A general term for the complete loss of the ability to hear from both ears.
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
A general term for the complete or partial loss of the ability to hear from one or both ears.
The part of the inner ear (LABYRINTH) that is concerned with hearing. It forms the anterior part of the labyrinth, as a snail-like structure that is situated almost horizontally anterior to the VESTIBULAR LABYRINTH.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Genes that influence the PHENOTYPE only in the homozygous state.
The essential part of the hearing organ consists of two labyrinthine compartments: the bony labyrinthine and the membranous labyrinth. The bony labyrinth is a complex of three interconnecting cavities or spaces (COCHLEA; VESTIBULAR LABYRINTH; and SEMICIRCULAR CANALS) in the TEMPORAL BONE. Within the bony labyrinth lies the membranous labyrinth which is a complex of sacs and tubules (COCHLEAR DUCT; SACCULE AND UTRICLE; and SEMICIRCULAR DUCTS) forming a continuous space enclosed by EPITHELIUM and connective tissue. These spaces are filled with LABYRINTHINE FLUIDS of various compositions.
Electrical waves in the CEREBRAL CORTEX generated by BRAIN STEM structures in response to auditory click stimuli. These are found to be abnormal in many patients with CEREBELLOPONTINE ANGLE lesions, MULTIPLE SCLEROSIS, or other DEMYELINATING DISEASES.
A group of homologous proteins which form the intermembrane channels of GAP JUNCTIONS. The connexins are the products of an identified gene family which has both highly conserved and highly divergent regions. The variety contributes to the wide range of functional properties of gap junctions.
A characteristic symptom complex.
Partial or complete hearing loss in one ear.
Sensory cells in the organ of Corti, characterized by their apical stereocilia (hair-like projections). The inner and outer hair cells, as defined by their proximity to the core of spongy bone (the modiolus), change morphologically along the COCHLEA. Towards the cochlear apex, the length of hair cell bodies and their apical STEREOCILIA increase, allowing differential responses to various frequencies of sound.
A layer of stratified EPITHELIUM forming the endolymphatic border of the cochlear duct at the lateral wall of the cochlea. Stria vascularis contains primarily three cell types (marginal, intermediate, and basal), and capillaries. The marginal cells directly facing the ENDOLYMPH are important in producing ion gradients and endochoclear potential.
The sensory ganglion of the COCHLEAR NERVE. The cells of the spiral ganglion send fibers peripherally to the cochlear hair cells and centrally to the COCHLEAR NUCLEI of the BRAIN STEM.
The ability or act of sensing and transducing ACOUSTIC STIMULATION to the CENTRAL NERVOUS SYSTEM. It is also called audition.
Electronic hearing devices typically used for patients with normal outer and middle ear function, but defective inner ear function. In the COCHLEA, the hair cells (HAIR CELLS, VESTIBULAR) may be absent or damaged but there are residual nerve fibers. The device electrically stimulates the COCHLEAR NERVE to create sound sensation.
Partial hearing loss in both ears.
The testing of the acuity of the sense of hearing to determine the thresholds of the lowest intensity levels at which an individual can hear a set of tones. The frequencies between 125 and 8000 Hz are used to test air conduction thresholds and the frequencies between 250 and 4000 Hz are used to test bone conduction thresholds.
The magnitude of INBREEDING in humans.
Surgical insertion of an electronic hearing device (COCHLEAR IMPLANTS) with electrodes to the COCHLEAR NERVE in the inner ear to create sound sensation in patients with residual nerve fibers.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The process by which an observer comprehends speech by watching the movements of the speaker's lips without hearing the speaker's voice.
Part of an ear examination that measures the ability of sound to reach the brain.
Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss.
The lymph fluid found in the membranous labyrinth of the ear. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
A system of hand gestures used for communication by the deaf or by people speaking different languages.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
The cochlear part of the 8th cranial nerve (VESTIBULOCOCHLEAR NERVE). The cochlear nerve fibers originate from neurons of the SPIRAL GANGLION and project peripherally to cochlear hair cells and centrally to the cochlear nuclei (COCHLEAR NUCLEUS) of the BRAIN STEM. They mediate the sense of hearing.
A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.
The audibility limit of discriminating sound intensity and pitch.
The spiral EPITHELIUM containing sensory AUDITORY HAIR CELLS and supporting cells in the cochlea. Organ of Corti, situated on the BASILAR MEMBRANE and overlaid by a gelatinous TECTORIAL MEMBRANE, converts sound-induced mechanical waves to neural impulses to the brain.
Measurement of hearing based on the use of pure tones of various frequencies and intensities as auditory stimuli.
Auditory sensory cells of organ of Corti, usually placed in one row medially to the core of spongy bone (the modiolus). Inner hair cells are in fewer numbers than the OUTER AUDITORY HAIR CELLS, and their STEREOCILIA are approximately twice as thick as those of the outer hair cells.
A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
Mechanosensing organelles of hair cells which respond to fluid motion or fluid pressure changes. They have various functions in many different animals, but are primarily used in hearing.
Pathological processes of the snail-like structure (COCHLEA) of the inner ear (LABYRINTH) which can involve its nervous tissue, blood vessels, or fluid (ENDOLYMPH).
A membrane, attached to the bony SPIRAL LAMINA, overlying and coupling with the hair cells of the ORGAN OF CORTI in the inner ear. It is a glycoprotein-rich keratin-like layer containing fibrils embedded in a dense amorphous substance.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Pathological processes of the VESTIBULAR LABYRINTH which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.
Biochemical identification of mutational changes in a nucleotide sequence.
One of the three ossicles of the middle ear. It transmits sound vibrations from the INCUS to the internal ear (Ear, Internal see LABYRINTH).
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
A POU domain factor that activates neuronal cell GENETIC TRANSCRIPTION of GENES encoding NEUROFILAMENT PROTEINS, alpha internexin, and SYNAPTOSOMAL-ASSOCIATED PROTEIN 25. Mutations in the Brn-3c gene have been associated with DEAFNESS.
Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways.
Any method used for determining the location of and relative distances between genes on a chromosome.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
A family of delayed rectifier voltage-gated potassium channels that share homology with their founding member, KCNQ1 PROTEIN. KCNQ potassium channels have been implicated in a variety of diseases including LONG QT SYNDROME; DEAFNESS; and EPILEPSY.
A small bony canal linking the vestibule of the inner ear to the posterior part of the internal surface of the petrous TEMPORAL BONE. It transmits the endolymphatic duct and two small blood vessels.
Color of hair or fur.
Persons with any degree of loss of hearing that has an impact on their activities of daily living or that requires special assistance or intervention.
Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.
Pathological processes of the inner ear (LABYRINTH) which contains the essential apparatus of hearing (COCHLEA) and balance (SEMICIRCULAR CANALS).
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
Either of a pair of compound bones forming the lateral (left and right) surfaces and base of the skull which contains the organs of hearing. It is a large bone formed by the fusion of parts: the squamous (the flattened anterior-superior part), the tympanic (the curved anterior-inferior part), the mastoid (the irregular posterior portion), and the petrous (the part at the base of the skull).
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A spiral tube that is firmly suspended in the bony shell-shaped part of the cochlea. This ENDOLYMPH-filled cochlear duct begins at the vestibule and makes 2.5 turns around a core of spongy bone (the modiolus) thus dividing the PERILYMPH-filled spiral canal into two channels, the SCALA VESTIBULI and the SCALA TYMPANI.
Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency (HYPOTHYROIDISM), or hormone overproduction (HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic (GOITER, ENDEMIC).
Sensory cells of organ of Corti. In mammals, they are usually arranged in three or four rows, and away from the core of spongy bone (the modiolus), lateral to the INNER AUDITORY HAIR CELLS and other supporting structures. Their cell bodies and STEREOCILIA increase in length from the cochlear base toward the apex and laterally across the rows, allowing differential responses to various frequencies of sound.
Wearable sound-amplifying devices that are intended to compensate for impaired hearing. These generic devices include air-conduction hearing aids and bone-conduction hearing aids. (UMDNS, 1999)
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)
An oval, bony chamber of the inner ear, part of the bony labyrinth. It is continuous with bony COCHLEA anteriorly, and SEMICIRCULAR CANALS posteriorly. The vestibule contains two communicating sacs (utricle and saccule) of the balancing apparatus. The oval window on its lateral wall is occupied by the base of the STAPES of the MIDDLE EAR.
The hearing and equilibrium system of the body. It consists of three parts: the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR. Sound waves are transmitted through this organ where vibration is transduced to nerve signals that pass through the ACOUSTIC NERVE to the CENTRAL NERVOUS SYSTEM. The inner ear also contains the vestibular organ that maintains equilibrium by transducing signals to the VESTIBULAR NERVE.
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
Use of sound to elicit a response in the nervous system.
The region of the cerebral cortex that receives the auditory radiation from the MEDIAL GENICULATE BODY.
Component of the NATIONAL INSTITUTES OF HEALTH. It conducts and supports biomedical research and research training on normal mechanisms as well as diseases and disorders of hearing, balance, smell, taste, voice, speech, and language. It was established in 1988.
Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
An individual in which both alleles at a given locus are identical.
The brain stem nucleus that receives the central input from the cochlear nerve. The cochlear nucleus is located lateral and dorsolateral to the inferior cerebellar peduncles and is functionally divided into dorsal and ventral parts. It is tonotopically organized, performs the first stage of central auditory processing, and projects (directly or indirectly) to higher auditory areas including the superior olivary nuclei, the medial geniculi, the inferior colliculi, and the auditory cortex.

Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists. (1/1607)

We report here the results of a questionnaire survey of consultant clinical geneticists in the United Kingdom to which we had an 81% response rate. In this questionnaire we asked about: (1) the nature of services currently offered to families with hearing impaired children, (2) what recurrence risks they quoted in isolated non-syndromic cases, and (3) what they might suggest for improving the range of genetic services available at present. We noted great variation both in these services and in the recurrence risks quoted in isolated cases. Based on the results of the questionnaire, we have proposed a protocol for the investigation of permanent childhood hearing impairment, which we believe to be both comprehensive and practical in an outpatient clinic setting. It is only by improving existing clinical and social understanding and knowledge of childhood hearing impairment that it will become possible to use recent molecular advances to develop comprehensive and consistent services for these families.  (+info)

Human deafness dystonia syndrome is a mitochondrial disease. (2/1607)

The human deafness dystonia syndrome results from the mutation of a protein (DDP) of unknown function. We show now that DDP is a mitochondrial protein and similar to five small proteins (Tim8p, Tim9p, Tim10p, Tim12p, and Tim13p) of the yeast mitochondrial intermembrane space. Tim9p, Tim10p, and Tim12p mediate the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane and interact structurally and functionally with Tim8p and Tim13p. DDP is most similar to Tim8p. Tim8p exists as a soluble 70-kDa complex with Tim13p and Tim9p, and deletion of Tim8p is synthetically lethal with a conditional mutation in Tim10p. The deafness dystonia syndrome thus is a novel type of mitochondrial disease that probably is caused by a defective mitochondrial protein-import system.  (+info)

Contralateral deafness following unilateral suboccipital brain tumor surgery in a patient with large vestibular aqueduct--case report. (3/1607)

A 68-year-old female developed contralateral deafness following extirpation of a left cerebellopontine angle epidermoid cyst. Computed tomography showed that large vestibular aqueduct was present. This unusual complication may have been caused by an abrupt pressure change after cerebrospinal fluid release, which was transmitted through the large vestibular aqueduct and resulted in cochlear damage.  (+info)

Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. (4/1607)

A spontaneous mutation causing deafness and circling behavior was discovered in a C3H/HeJ colony of mice at the Jackson Laboratory. Pathological analysis of mutant mice revealed gross morphological abnormalities of the inner ear, and also dysmorphic or missing kidneys. The deafness and abnormal behavior were shown to be inherited as an autosomal recessive trait and mapped to mouse chromosome 1 near the position of the Eya1 gene. The human homolog of this gene, EYA1, has been shown to underly branchio-oto-renal (BOR) syndrome, an autosomal dominant disorder characterized by hearing loss with associated branchial and renal anomalies. Molecular analysis of the Eya1 gene in mutant mice revealed the insertion of an intracisternal A particle (IAP) element in intron 7. The presence of the IAP insertion was associated with reduced expression of the normal Eya1 message and formation of additional aberrant transcripts. The hypomorphic nature of the mutation may explain its recessive inheritance, if protein levels in homozygotes, but not heterozygotes, are below a critical threshold needed for normal developmental function. The new mouse mutation is designated Eya1(bor) to denote its similarity to human BOR syndrome, and will provide a valuable model for studying mutant gene expression and etiology.  (+info)

Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. (5/1607)

We have investigated the cellular pathology of the syndrome called thiamine-responsive megaloblastic anemia (TRMA) with diabetes and deafness. Cultured diploid fibroblasts were grown in thiamine-free medium and dialyzed serum. Normal fibroblasts survived indefinitely without supplemental thiamine, whereas patient cells died in 5-14 days (mean 9.5 days), and heterozygous cells survived for more than 30 days. TRMA fibroblasts were rescued from death with 10-30 nM thiamine (in the range of normal plasma thiamine concentrations). Positive terminal deoxynucleotide transferase-mediated dUTP nick end-labeling (TUNEL) staining suggested that cell death was due to apoptosis. We assessed cellular uptake of [3H]thiamine at submicromolar concentrations. Normal fibroblasts exhibited saturable, high-affinity thiamine uptake (Km 400-550 nM; Vmax 11 pmol/min/10(6) cells) in addition to a low-affinity unsaturable component. Mutant cells lacked detectable high-affinity uptake. At 30 nM thiamine, the rate of uptake of thiamine by TRMA fibroblasts was 10-fold less than that of wild-type, and cells from obligate heterozygotes had an intermediate phenotype. Transfection of TRMA fibroblasts with the yeast thiamine transporter gene THI10 prevented cell death when cells were grown in the absence of supplemental thiamine. We therefore propose that the primary abnormality in TRMA is absence of a high-affinity thiamine transporter and that low intracellular thiamine concentrations in the mutant cells cause biochemical abnormalities that lead to apoptotic cell death.  (+info)

Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene. (6/1607)

Despite the large number of genes that are expected to be involved in non-syndromal, recessive deafness, only a few have been cloned. One of these genes is GJB2, which encodes connexin 26. A frameshift mutation in this gene has been reported to be common in several populations and a carrier frequency of about 1 in 30 people has been detected in Italy and Spain. Mutation 35delG is difficult to detect because it lies within a stretch of six guanines flanked by thymines, so the deletion of one G does not create or destroy a restriction site and mutagenesis primers are not useful for this mutation. We have generated an allele specific oligonucleotide method that uses 12-mer oligonucleotides and easily discriminates between the normal and 35delG alleles. The method should permit a rapid analysis of this mutation in congenital cases (recessive or sporadic), including diagnosis and carrier detection of 35delG in the population.  (+info)

A comparison of language achievement in children with cochlear implants and children using hearing aids. (7/1607)

English language achievement of 29 prelingually deaf children with 3 or more years of cochlear implant (CI) experience was compared to the achievement levels of prelingually deaf children who did not have such CI experience. Language achievement was measured by the Rhode Island Test of Language Structure (RITLS), a measure of signed and spoken sentence comprehension, and the Index of Productive Syntax (IPSyn), a measure of expressive (signed and spoken) English grammar. When the CI users were compared with their deaf age mates who contributed to the norms of the RITLS, it was found that CI users achieved significantly better scores. Likewise, we found that CI users performed better than 29 deaf children who used hearing aids (HAs) with respect to English grammar achievement as indexed by the IPSyn. Additionally, we found that chronological age highly correlated with IPSyn levels only among the non-CI users, whereas length of CI experience was significantly correlated with IPSyn scores for CI users. Finally, clear differences between those with and without CI experience were found by 2 years of post-implant experience. These data provide evidence that children who receive CIs benefit in the form of improved English language comprehension and production.  (+info)

Can routine information systems be used to monitor serious disability? (8/1607)

OBJECTIVE: To determine whether reliable birth cohort prevalence rates of disabling conditions in early childhood can be obtained from child health information systems. DESIGN: Comparison of two sources of information on motor and sensory disabilities: from child health information systems held by health authorities, and a population register that uses multiple sources of ascertainment. SETTING: The counties of Oxfordshire, Buckinghamshire, and Northamptonshire. PARTICIPANTS: Children born to residents of the three counties between 1984 and 1989. RESULTS: Eight hundred and twenty children (6.0/1000 live births) were identified from the child health system as having one or more of the conditions, and 580 (4.2/1000 live births) were identified from the population register; however, only 284 children were identified by both sources. CONCLUSIONS: It is currently impossible to monitor trends in the prevalence rate of disabling disorders in childhood using the child health information systems. Agreement about ways of collecting, recording, and collating information on disability would be a useful step towards realising the full potential of these systems.  (+info)

Deafness is a hearing loss that is so severe that it results in significant difficulty in understanding or comprehending speech, even when using hearing aids. It can be congenital (present at birth) or acquired later in life due to various causes such as disease, injury, infection, exposure to loud noises, or aging. Deafness can range from mild to profound and may affect one ear (unilateral) or both ears (bilateral). In some cases, deafness may be accompanied by tinnitus, which is the perception of ringing or other sounds in the ears.

Deaf individuals often use American Sign Language (ASL) or other forms of sign language to communicate. Some people with less severe hearing loss may benefit from hearing aids, cochlear implants, or other assistive listening devices. Deafness can have significant social, educational, and vocational implications, and early intervention and appropriate support services are critical for optimal development and outcomes.

Sensorineural hearing loss (SNHL) is a type of hearing impairment that occurs due to damage to the inner ear (cochlea) or to the nerve pathways from the inner ear to the brain. It can be caused by various factors such as aging, exposure to loud noises, genetics, certain medical conditions (like diabetes and heart disease), and ototoxic medications.

SNHL affects the ability of the hair cells in the cochlea to convert sound waves into electrical signals that are sent to the brain via the auditory nerve. As a result, sounds may be perceived as muffled, faint, or distorted, making it difficult to understand speech, especially in noisy environments.

SNHL is typically permanent and cannot be corrected with medication or surgery, but hearing aids or cochlear implants can help improve communication and quality of life for those affected.

Hearing loss is a partial or total inability to hear sounds in one or both ears. It can occur due to damage to the structures of the ear, including the outer ear, middle ear, inner ear, or nerve pathways that transmit sound to the brain. The degree of hearing loss can vary from mild (difficulty hearing soft sounds) to severe (inability to hear even loud sounds). Hearing loss can be temporary or permanent and may be caused by factors such as exposure to loud noises, genetics, aging, infections, trauma, or certain medical conditions. It is important to note that hearing loss can have significant impacts on a person's communication abilities, social interactions, and overall quality of life.

The cochlea is a part of the inner ear that is responsible for hearing. It is a spiral-shaped structure that looks like a snail shell and is filled with fluid. The cochlea contains hair cells, which are specialized sensory cells that convert sound vibrations into electrical signals that are sent to the brain.

The cochlea has three main parts: the vestibular canal, the tympanic canal, and the cochlear duct. Sound waves enter the inner ear and cause the fluid in the cochlea to move, which in turn causes the hair cells to bend. This bending motion stimulates the hair cells to generate electrical signals that are sent to the brain via the auditory nerve.

The brain then interprets these signals as sound, allowing us to hear and understand speech, music, and other sounds in our environment. Damage to the hair cells or other structures in the cochlea can lead to hearing loss or deafness.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

The inner ear is the innermost part of the ear that contains the sensory organs for hearing and balance. It consists of a complex system of fluid-filled tubes and sacs called the vestibular system, which is responsible for maintaining balance and spatial orientation, and the cochlea, a spiral-shaped organ that converts sound vibrations into electrical signals that are sent to the brain.

The inner ear is located deep within the temporal bone of the skull and is protected by a bony labyrinth. The vestibular system includes the semicircular canals, which detect rotational movements of the head, and the otolith organs (the saccule and utricle), which detect linear acceleration and gravity.

Damage to the inner ear can result in hearing loss, tinnitus (ringing in the ears), vertigo (a spinning sensation), and balance problems.

Auditory brainstem evoked potentials (ABEPs or BAEPs) are medical tests that measure the electrical activity in the auditory pathway of the brain in response to sound stimulation. The test involves placing electrodes on the scalp and recording the tiny electrical signals generated by the nerve cells in the brainstem as they respond to clicks or tone bursts presented through earphones.

The resulting waveform is analyzed for latency (the time it takes for the signal to travel from the ear to the brain) and amplitude (the strength of the signal). Abnormalities in the waveform can indicate damage to the auditory nerve or brainstem, and are often used in the diagnosis of various neurological conditions such as multiple sclerosis, acoustic neuroma, and brainstem tumors.

The test is non-invasive, painless, and takes only a few minutes to perform. It provides valuable information about the functioning of the auditory pathway and can help guide treatment decisions for patients with hearing or balance disorders.

Connexins are a family of proteins that form the structural units of gap junctions, which are specialized channels that allow for the direct exchange of small molecules and ions between adjacent cells. These channels play crucial roles in maintaining tissue homeostasis, coordinating cellular activities, and enabling communication between cells. In humans, there are 21 different connexin genes that encode for these proteins, with each isoform having unique properties and distributions within the body. Mutations in connexin genes have been linked to a variety of human diseases, including hearing loss, skin disorders, and heart conditions.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Unilateral hearing loss is a type of hearing impairment that affects only one ear. This condition can be either sensorineural or conductive in nature. Sensorineural hearing loss results from damage to the inner ear or nerve pathways leading to the brain, while conductive hearing loss occurs when sound waves are not properly transmitted through the outer or middle ear. Unilateral hearing loss can result in difficulty hearing and understanding speech, particularly in noisy environments, and can also impact communication and quality of life. The cause of unilateral hearing loss can vary and may include factors such as infection, trauma, genetics, or exposure to loud noise. Treatment options depend on the underlying cause and severity of the hearing loss and may include hearing aids, cochlear implants, or surgical intervention.

Auditory hair cells are specialized sensory receptor cells located in the inner ear, more specifically in the organ of Corti within the cochlea. They play a crucial role in hearing by converting sound vibrations into electrical signals that can be interpreted by the brain.

These hair cells have hair-like projections called stereocilia on their apical surface, which are embedded in a gelatinous matrix. When sound waves reach the inner ear, they cause the fluid within the cochlea to move, which in turn causes the stereocilia to bend. This bending motion opens ion channels at the tips of the stereocilia, allowing positively charged ions (such as potassium) to flow into the hair cells and trigger a receptor potential.

The receptor potential then leads to the release of neurotransmitters at the base of the hair cells, which activate afferent nerve fibers that synapse with these cells. The electrical signals generated by this process are transmitted to the brain via the auditory nerve, where they are interpreted as sound.

There are two types of auditory hair cells: inner hair cells and outer hair cells. Inner hair cells are the primary sensory receptors responsible for transmitting information about sound to the brain. They make direct contact with afferent nerve fibers and are more sensitive to mechanical stimulation than outer hair cells.

Outer hair cells, on the other hand, are involved in amplifying and fine-tuning the mechanical response of the inner ear to sound. They have a unique ability to contract and relax in response to electrical signals, which allows them to adjust the stiffness of their stereocilia and enhance the sensitivity of the cochlea to different frequencies.

Damage or loss of auditory hair cells can lead to hearing impairment or deafness, as these cells cannot regenerate spontaneously in mammals. Therefore, understanding the structure and function of hair cells is essential for developing therapies aimed at treating hearing disorders.

Stria vascularis is a highly vascularized (rich in blood vessels) structure located in the cochlea of the inner ear. It plays a crucial role in the process of hearing by maintaining the endocochlear potential, which is essential for the conversion of sound waves into electrical signals that can be interpreted by the brain. The stria vascularis is composed of three layers: the marginal cells, intermediate cells, and basal cells, which work together to maintain the ionic balance and generate the endocochlear potential. Damage to the stria vascularis can result in hearing loss.

The spiral ganglion is a structure located in the inner ear, specifically within the cochlea. It consists of nerve cell bodies that form the sensory component of the auditory nervous system. The spiral ganglion's neurons are bipolar and have peripheral processes that form synapses with hair cells in the organ of Corti, which is responsible for converting sound vibrations into electrical signals.

The central processes of these neurons then coalesce to form the cochlear nerve, which transmits these electrical signals to the brainstem and ultimately to the auditory cortex for processing and interpretation as sound. Damage to the spiral ganglion or its associated neural structures can lead to hearing loss or deafness.

Hearing is the ability to perceive sounds by detecting vibrations in the air or other mediums and translating them into nerve impulses that are sent to the brain for interpretation. In medical terms, hearing is defined as the sense of sound perception, which is mediated by the ear and interpreted by the brain. It involves a complex series of processes, including the conduction of sound waves through the outer ear to the eardrum, the vibration of the middle ear bones, and the movement of fluid in the inner ear, which stimulates hair cells to send electrical signals to the auditory nerve and ultimately to the brain. Hearing allows us to communicate with others, appreciate music and sounds, and detect danger or important events in our environment.

Cochlear implants are medical devices that are surgically implanted in the inner ear to help restore hearing in individuals with severe to profound hearing loss. These devices bypass the damaged hair cells in the inner ear and directly stimulate the auditory nerve, allowing the brain to interpret sound signals. Cochlear implants consist of two main components: an external processor that picks up and analyzes sounds from the environment, and an internal receiver/stimulator that receives the processed information and sends electrical impulses to the auditory nerve. The resulting patterns of electrical activity are then perceived as sound by the brain. Cochlear implants can significantly improve communication abilities, language development, and overall quality of life for individuals with profound hearing loss.

Bilateral hearing loss refers to a type of hearing loss that affects both ears equally or to varying degrees. It can be further categorized into two types: sensorineural and conductive hearing loss. Sensorineural hearing loss occurs due to damage to the inner ear or nerve pathways from the inner ear to the brain, while conductive hearing loss happens when sound waves are not properly transmitted through the outer ear canal to the eardrum and middle ear bones. Bilateral hearing loss can result in difficulty understanding speech, localizing sounds, and may impact communication and quality of life. The diagnosis and management of bilateral hearing loss typically involve a comprehensive audiological evaluation and medical assessment to determine the underlying cause and appropriate treatment options.

Audiometry is the testing of a person's ability to hear different sounds, pitches, or frequencies. It is typically conducted using an audiometer, a device that emits tones at varying volumes and frequencies. The person being tested wears headphones and indicates when they can hear the tone by pressing a button or raising their hand.

There are two main types of audiometry: pure-tone audiometry and speech audiometry. Pure-tone audiometry measures a person's ability to hear different frequencies at varying volumes, while speech audiometry measures a person's ability to understand spoken words at different volumes and in the presence of background noise.

The results of an audiometry test are typically plotted on an audiogram, which shows the quietest sounds that a person can hear at different frequencies. This information can be used to diagnose hearing loss, determine its cause, and develop a treatment plan.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

Cochlear implantation is a surgical procedure in which a device called a cochlear implant is inserted into the inner ear (cochlea) of a person with severe to profound hearing loss. The implant consists of an external component, which includes a microphone, processor, and transmitter, and an internal component, which includes a receiver and electrode array.

The microphone picks up sounds from the environment and sends them to the processor, which analyzes and converts the sounds into electrical signals. These signals are then transmitted to the receiver, which stimulates the electrode array in the cochlea. The electrodes directly stimulate the auditory nerve fibers, bypassing the damaged hair cells in the inner ear that are responsible for normal hearing.

The brain interprets these electrical signals as sound, allowing the person to perceive and understand speech and other sounds. Cochlear implantation is typically recommended for people who do not benefit from traditional hearing aids and can significantly improve communication, quality of life, and social integration for those with severe to profound hearing loss.

Usher Syndromes are a group of genetic disorders that are characterized by hearing loss and visual impairment due to retinitis pigmentosa. They are the most common cause of deafblindness in developed countries. There are three types of Usher Syndromes (Type 1, Type 2, and Type 3) which differ in the age of onset, severity, and progression of hearing loss and vision loss.

Type 1 Usher Syndrome is the most severe form, with profound deafness present at birth or within the first year of life, and retinitis pigmentosa leading to significant vision loss by the teenage years. Type 2 Usher Syndrome is characterized by moderate to severe hearing loss beginning in childhood and vision loss due to retinitis pigmentosa starting in adolescence or early adulthood. Type 3 Usher Syndrome has progressive hearing loss that begins in adolescence and vision loss due to retinitis pigmentosa starting in the third decade of life.

The diagnosis of Usher Syndromes is based on a combination of clinical examination, audiological evaluation, and genetic testing. There is currently no cure for Usher Syndromes, but various assistive devices and therapies can help manage the symptoms and improve quality of life.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Lipreading, also known as speechreading, is not a medical term per se, but it is a communication strategy often used by individuals with hearing loss. It involves paying close attention to the movements of the lips, facial expressions, and body language of the person who is speaking to help understand spoken words.

While lipreading can be helpful, it should be noted that it is not an entirely accurate way to comprehend speech, as many sounds look similar on the lips, and factors such as lighting and the speaker's articulation can affect its effectiveness. Therefore, lipreading is often used in conjunction with other communication strategies, such as hearing aids, cochlear implants, or American Sign Language (ASL).

A hearing test is a procedure used to evaluate a person's ability to hear different sounds, pitches, or frequencies. It is performed by a hearing healthcare professional in a sound-treated booth or room with calibrated audiometers. The test measures a person's hearing sensitivity at different frequencies and determines the quietest sounds they can hear, known as their hearing thresholds.

There are several types of hearing tests, including:

1. Pure Tone Audiometry (PTA): This is the most common type of hearing test, where the person is presented with pure tones at different frequencies and volumes through headphones or ear inserts. The person indicates when they hear the sound by pressing a button or raising their hand.
2. Speech Audiometry: This test measures a person's ability to understand speech at different volume levels. The person is asked to repeat words presented to them in quiet and in background noise.
3. Tympanometry: This test measures the function of the middle ear by creating variations in air pressure in the ear canal. It can help identify issues such as fluid buildup or a perforated eardrum.
4. Acoustic Reflex Testing: This test measures the body's natural response to loud sounds and can help identify the location of damage in the hearing system.
5. Otoacoustic Emissions (OAEs): This test measures the sound that is produced by the inner ear when it is stimulated by a sound. It can help identify cochlear damage or abnormalities.

Hearing tests are important for diagnosing and monitoring hearing loss, as well as identifying any underlying medical conditions that may be causing the hearing problems.

Central hearing loss is a type of hearing disorder that occurs due to damage or dysfunction in the central auditory pathways of the brain, rather than in the ear itself. This condition can result from various causes, such as stroke, tumors, trauma, infection, or degenerative diseases affecting the brain.

In central hearing loss, the person may have difficulty understanding and processing speech, even when they can hear sounds at normal levels. They might experience problems with sound localization, discriminating between similar sounds, and comprehending complex auditory signals. This type of hearing loss is different from sensorineural or conductive hearing loss, which are related to issues in the outer, middle, or inner ear.

Endolymph is a specific type of fluid that is found within the inner ear, more specifically in the membranous labyrinth of the inner ear. This fluid plays a crucial role in maintaining balance and hearing functions. It helps in the stimulation of hair cells present in the inner ear which then transmit signals to the brain, enabling us to hear and maintain our balance. Any disturbance or changes in the composition or flow of endolymph can lead to various vestibular disorders and hearing problems.

Wolfram Syndrome is a rare, progressive, genetic disorder that affects multiple organ systems, particularly the eyes, brain, endocrine system, and hearing. It is characterized by the combination of several features including diabetes insipidus (DI), diabetes mellitus (DM), optic nerve atrophy, and various neurological symptoms. The onset of this syndrome typically occurs in childhood.

The two major types of Wolfram Syndrome are WFS1 and WFS2, with WFS1 being the most common form. They are caused by mutations in different genes (WFS1 and CISD2 respectively), both of which play a role in maintaining the health of cells in the body, particularly those in the pancreas, eyes, and ears.

The symptoms of Wolfram Syndrome can vary widely among affected individuals, but often include:
- Diabetes insipidus (DI): This is characterized by excessive thirst and urination due to problems with the body's regulation of fluids.
- Diabetes mellitus (DM): This type of diabetes results from issues with insulin production or usage, leading to high blood sugar levels.
- Optic nerve atrophy: This can cause vision loss, typically starting in early childhood and progressing over time.
- Neurological symptoms: These may include hearing loss, problems with balance and coordination, difficulty swallowing, and neuropsychiatric issues such as depression and anxiety.

Currently, there is no cure for Wolfram Syndrome, and treatment primarily focuses on managing the individual symptoms of the disorder.

Sign language is not considered a medical term, but it is a visual-manual means of communication used by individuals who are deaf or hard of hearing. It combines hand shapes, orientation, and movement of the hands, arms, or body, along with facial expressions and lip patterns. Different sign languages exist in various countries and communities, such as American Sign Language (ASL) and British Sign Language (BSL).

However, I can provide a definition related to medical terminology that involves the use of gestures for communication purposes:

Gesture (in medical context): A bodily action or movement, often used to convey information or communicate. In some medical situations, healthcare professionals may use simple, predefined gestures to elicit responses from patients who have difficulty with verbal communication due to conditions like aphasia, dysarthria, or being in a coma. These gestures can be part of a more comprehensive system called "gesture-based communication" or "nonverbal communication."

For sign language specifically, you may consult resources related to linguistics, special education, or deaf studies for detailed definitions and descriptions.

Waardenburg Syndrome is a genetic disorder that affects the development of melanin, a pigment responsible for hair, skin, and eye color. Named after the Dutch ophthalmologist Petrus Waardenburg who first described it in 1907, this syndrome is characterized by distinctive physical features and hearing loss.

There are four types of Waardenburg Syldrome (WS1, WS2, WS3, and WS4), each with varying degrees of symptoms. Common features include:

1. Differential coloring of the hair, skin, and eyes (poliosis, vitiligo, and heterochromia)
2. Distinctive facial features (wide-set eyes, broad nasal root, and a high arched or cleft palate)
3. Hearing loss, which can be unilateral (one-sided) or bilateral (both-sided), conductive, sensorineural, or mixed
4. Pigmentary changes in the iris, such as different colors between the eyes or within one eye
5. Sometimes, musculoskeletal abnormalities and/or developmental delays

WS1 and WS2 are more common than WS3 and WS4. The genetic causes of Waardenburg Syndrome involve mutations in several different genes associated with melanin production and transport. These include PAX3, MITF, SNAI2, EDN3, and EDNRB.

Diagnosis is typically based on clinical findings, including physical features and hearing tests. Genetic testing can confirm the diagnosis and help determine the specific type of Waardenburg Syndrome. Treatment usually involves addressing individual symptoms, such as using hearing aids or cochlear implants for hearing loss and managing any skin or eye concerns.

The cochlear nerve, also known as the auditory nerve, is the sensory nerve that transmits sound signals from the inner ear to the brain. It consists of two parts: the outer spiral ganglion and the inner vestibular portion. The spiral ganglion contains the cell bodies of the bipolar neurons that receive input from hair cells in the cochlea, which is the snail-shaped organ in the inner ear responsible for hearing. These neurons then send their axons to form the cochlear nerve, which travels through the internal auditory meatus and synapses with neurons in the cochlear nuclei located in the brainstem.

Damage to the cochlear nerve can result in hearing loss or deafness, depending on the severity of the injury. Common causes of cochlear nerve damage include acoustic trauma, such as exposure to loud noises, viral infections, meningitis, and tumors affecting the nerve or surrounding structures. In some cases, cochlear nerve damage may be treated with hearing aids, cochlear implants, or other assistive devices to help restore or improve hearing function.

Hypoparathyroidism is a medical condition characterized by decreased levels or insufficient function of parathyroid hormone (PTH), which is produced and released by the parathyroid glands. These glands are located in the neck, near the thyroid gland, and play a crucial role in regulating calcium and phosphorus levels in the body.

In hypoparathyroidism, low PTH levels result in decreased absorption of calcium from the gut, increased excretion of calcium through the kidneys, and impaired regulation of bone metabolism. This leads to low serum calcium levels (hypocalcemia) and high serum phosphorus levels (hyperphosphatemia).

Symptoms of hypoparathyroidism can include muscle cramps, spasms, or tetany (involuntary muscle contractions), numbness or tingling sensations in the fingers, toes, and around the mouth, fatigue, weakness, anxiety, cognitive impairment, and in severe cases, seizures. Hypoparathyroidism can be caused by various factors, including surgical removal or damage to the parathyroid glands, autoimmune disorders, radiation therapy, genetic defects, or low magnesium levels. Treatment typically involves calcium and vitamin D supplementation to maintain normal serum calcium levels and alleviate symptoms. In some cases, recombinant PTH (Natpara) may be prescribed as well.

The auditory threshold is the minimum sound intensity or loudness level that a person can detect 50% of the time, for a given tone frequency. It is typically measured in decibels (dB) and represents the quietest sound that a person can hear. The auditory threshold can be affected by various factors such as age, exposure to noise, and certain medical conditions. Hearing tests, such as pure-tone audiometry, are used to measure an individual's auditory thresholds for different frequencies.

The Organ of Corti is the sensory organ of hearing within the cochlea of the inner ear. It is a structure in the inner spiral sulcus of the cochlear duct and is responsible for converting sound vibrations into electrical signals that are sent to the brain via the auditory nerve.

The Organ of Corti consists of hair cells, which are sensory receptors with hair-like projections called stereocilia on their apical surfaces. These stereocilia are embedded in a gelatinous matrix and are arranged in rows of different heights. When sound vibrations cause the fluid in the cochlea to move, the stereocilia bend, which opens ion channels and triggers nerve impulses that are sent to the brain.

Damage or loss of hair cells in the Organ of Corti can result in hearing loss, making it a critical structure for maintaining normal auditory function.

Pure-tone audiometry is a hearing test that measures a person's ability to hear different sounds, pitches, or frequencies. During the test, pure tones are presented to the patient through headphones or ear inserts, and the patient is asked to indicate each time they hear the sound by raising their hand, pressing a button, or responding verbally.

The softest sound that the person can hear at each frequency is recorded as the hearing threshold, and a graph called an audiogram is created to show the results. The audiogram provides information about the type and degree of hearing loss in each ear. Pure-tone audiometry is a standard hearing test used to diagnose and monitor hearing disorders.

Auditory inner hair cells are specialized sensory receptor cells located in the inner ear, more specifically in the organ of Corti within the cochlea. They play a crucial role in hearing by converting mechanical sound energy into electrical signals that can be processed and interpreted by the brain.

Human ears have about 3,500 inner hair cells arranged in one row along the length of the basilar membrane in each cochlea. These hair cells are characterized by their stereocilia, which are hair-like projections on the apical surface that are embedded in a gelatinous matrix called the tectorial membrane.

When sound waves cause the basilar membrane to vibrate, the stereocilia of inner hair cells bend and deflect. This deflection triggers a cascade of biochemical events leading to the release of neurotransmitters at the base of the hair cell. These neurotransmitters then stimulate the afferent auditory nerve fibers (type I fibers) that synapse with the inner hair cells, transmitting the electrical signals to the brain for further processing and interpretation as sound.

Damage or loss of these inner hair cells can lead to significant hearing impairment or deafness, as they are essential for normal auditory function. Currently, there is no effective way to regenerate damaged inner hair cells in humans, making hearing loss due to their damage permanent.

Jervell-Lange Nielsen Syndrome (JLNS) is a rare inherited disorder characterized by the combination of congenital deafness and prolongation of the QT interval on an electrocardiogram (ECG), which can lead to life-threatening cardiac arrhythmias. It is caused by mutations in the KCNQ1 or KCNE1 genes, which are responsible for the potassium ion channels in the heart that help maintain a regular heart rhythm.

There are two types of JLNS: type 1 and type 2. Type 1 is characterized by profound congenital deafness and severe, life-threatening cardiac arrhythmias, while type 2 has less severe hearing loss and fewer cardiac complications. The syndrome can be diagnosed through genetic testing and ECG monitoring. Treatment typically involves the use of beta blockers to regulate heart rhythm, as well as the implementation of measures to manage the risk of sudden death, such as the implantation of a pacemaker or defibrillator.

Stereocilia are hair-like projections found in the inner ear, more specifically in the organ of Corti within the cochlea. They are present on the sensory cells known as hair cells and are involved in hearing by converting sound vibrations into electrical signals that can be transmitted to the brain.

Stereocilia are arranged in rows of graded height, with the tallest ones located near the opening of the cochlea (the base) and the shortest ones closer to the apex. When sound waves reach the inner ear, they cause the fluid within the cochlea to move, which in turn causes stereocilia to bend. This bending action triggers the release of chemical signals that stimulate nerve fibers connected to the hair cells, ultimately transmitting information about the sound to the brain.

Damage or loss of stereocilia can result in hearing impairment or deafness, as seen in various forms of hearing disorders and age-related hearing loss.

Cochlear diseases refer to conditions that affect the structure or function of the cochlea, which is a part of the inner ear responsible for hearing. These diseases can cause various types and degrees of hearing loss, ranging from mild to profound. Some common cochlear diseases include:

1. Cochlear otosclerosis: A condition where there is abnormal bone growth in the cochlea, which can lead to conductive or sensorineural hearing loss.
2. Cochlear Meniere's disease: A disorder that affects the inner ear and causes vertigo, tinnitus, and fluctuating hearing loss.
3. Cochlear damage due to exposure to loud noises: Prolonged or sudden exposure to loud noises can cause permanent cochlear damage and hearing loss.
4. Presbycusis: Age-related hearing loss that affects the cochlea and other structures of the auditory system.
5. Cochlear nerve tumors: Rare benign or malignant growths on the cochlear nerve can cause hearing loss, tinnitus, and balance problems.
6. Infections: Bacterial or viral infections such as meningitis, labyrinthitis, or otitis media can damage the cochlea and lead to hearing loss.
7. Ototoxicity: Certain medications can be toxic to the cochlea and cause hearing loss, tinnitus, or balance problems.
8. Genetic factors: Inherited genetic mutations can cause various types of cochlear diseases, such as connexin 26 deficiency, Waardenburg syndrome, or Usher syndrome.

It is important to note that early diagnosis and treatment of cochlear diseases can help prevent or minimize hearing loss and other complications.

The tectorial membrane is a specialized structure in the inner ear, more specifically in the cochlea. It is a gelatinous, hair-like structure that is located above and parallel to the organ of Corti, which contains the sensory hair cells responsible for hearing. The tectorial membrane is composed of collagen fibers and a glycoprotein matrix.

The main function of the tectorial membrane is to deflect the stereocilia (hair-like projections) of the inner and outer hair cells as sound waves pass through the cochlea, which in turn triggers nerve impulses that are sent to the brain and interpreted as sound. The tectorial membrane moves in response to sound-induced vibrations of the fluid within the cochlea, causing shearing forces on the stereocilia, leading to the initiation of the hearing process.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Vestibular diseases are a group of disorders that affect the vestibular system, which is responsible for maintaining balance and spatial orientation. The vestibular system includes the inner ear and parts of the brain that process sensory information related to movement and position.

These diseases can cause symptoms such as vertigo (a spinning sensation), dizziness, imbalance, nausea, and visual disturbances. Examples of vestibular diseases include:

1. Benign paroxysmal positional vertigo (BPPV): a condition in which small crystals in the inner ear become dislodged and cause brief episodes of vertigo triggered by changes in head position.
2. Labyrinthitis: an inner ear infection that can cause sudden onset of vertigo, hearing loss, and tinnitus (ringing in the ears).
3. Vestibular neuronitis: inflammation of the vestibular nerve that causes severe vertigo, nausea, and imbalance but typically spares hearing.
4. Meniere's disease: a disorder characterized by recurrent episodes of vertigo, tinnitus, hearing loss, and a feeling of fullness in the affected ear.
5. Vestibular migraine: a type of migraine that includes vestibular symptoms such as dizziness, imbalance, and disorientation.
6. Superior canal dehiscence syndrome: a condition in which there is a thinning or absence of bone over the superior semicircular canal in the inner ear, leading to vertigo, sound- or pressure-induced dizziness, and hearing loss.
7. Bilateral vestibular hypofunction: reduced function of both vestibular systems, causing chronic imbalance, unsteadiness, and visual disturbances.

Treatment for vestibular diseases varies depending on the specific diagnosis but may include medication, physical therapy, surgery, or a combination of these approaches.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

The stapes is the smallest bone in the human body, which is a part of the middle ear. It is also known as the "stirrup" because of its U-shaped structure. The stapes connects the inner ear to the middle ear, transmitting sound vibrations from the ear drum to the inner ear. More specifically, it is the third bone in the series of three bones (the ossicles) that conduct sound waves from the air to the fluid-filled inner ear.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Transcription Factor Brn-3C, also known as POU4F3, is a protein involved in the regulation of gene expression. It belongs to the class IV POU domain transcription factor family and plays crucial roles in the development, maintenance, and function of inner ear hair cells, which are essential for hearing. Mutations in the Brn-3C gene have been associated with deafness disorders in humans. The protein works by binding to specific DNA sequences in the promoter regions of target genes and controlling their transcription into messenger RNA (mRNA). This process is critical for various cellular functions, including cell growth, differentiation, and survival.

Hearing disorders, also known as hearing impairments or auditory impairments, refer to conditions that affect an individual's ability to hear sounds in one or both ears. These disorders can range from mild to profound and may result from genetic factors, aging, exposure to loud noises, infections, trauma, or certain medical conditions.

There are mainly two types of hearing disorders: conductive hearing loss and sensorineural hearing loss. Conductive hearing loss occurs when there is a problem with the outer or middle ear, preventing sound waves from reaching the inner ear. Causes include earwax buildup, fluid in the middle ear, a perforated eardrum, or damage to the ossicles (the bones in the middle ear).

Sensorineural hearing loss, on the other hand, is caused by damage to the inner ear (cochlea) or the nerve pathways from the inner ear to the brain. This type of hearing loss is often permanent and can be due to aging (presbycusis), exposure to loud noises, genetics, viral infections, certain medications, or head injuries.

Mixed hearing loss is a combination of both conductive and sensorineural components. In some cases, hearing disorders can also involve tinnitus (ringing or other sounds in the ears) or vestibular problems that affect balance and equilibrium.

Early identification and intervention for hearing disorders are crucial to prevent further deterioration and to help individuals develop appropriate communication skills and maintain a good quality of life.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

KCNQ potassium channels, also known as Kv7 channels, are a type of voltage-gated potassium channel that play important roles in regulating electrical excitability in various tissues, including the heart and nervous system. These channels are composed of several subunits, typically formed by combinations of KCNQ1 to KCNQ5 proteins, which form a pore through which potassium ions can flow in response to changes in membrane voltage.

KCNQ channels are characterized by their slow activation and deactivation kinetics, which contribute to their role in setting the resting membrane potential and modulating the frequency of action potentials in neurons. In the heart, KCNQ channels help to regulate the duration of the cardiac action potential and are therefore important for maintaining normal heart rhythm.

Mutations in KCNQ channel genes have been associated with a variety of inherited disorders, including long QT syndrome, a condition characterized by abnormalities in the electrical repolarization of the heart that can lead to life-threatening arrhythmias. Other diseases associated with KCNQ channel dysfunction include epilepsy, migraine, and various forms of hearing loss.

The vestibular aqueduct is a bony canal that runs from the inner ear to the brain. It contains a membranous duct, called the endolymphatic duct, which is filled with a fluid called endolymph. The vestibular aqueduct plays a role in the maintenance of balance and hearing by regulating the pressure and composition of the endolymph. Abnormalities or damage to the vestibular aqueduct can lead to conditions such as endolymphatic hydrops, which can cause symptoms like vertigo, dizziness, and hearing loss.

I'm sorry for any confusion, but "hair color" is not a term that has a medical definition in the same way that a term like "myocardial infarction" (heart attack) does. Hair color can be described in various ways, such as being a natural hair color (like blonde, brunette, red, or black) or describing a change in hair color due to factors like aging (gray or white hairs) or hair dye usage.

However, it's worth noting that changes in hair color can sometimes be associated with certain medical conditions. For example, premature graying of the hair before the age of 30 can be a feature of certain genetic disorders or vitamin B12 deficiency. Similarly, some skin conditions like alopecia areata or vitiligo can cause patchy changes in hair color. But these associations don't provide a medical definition for 'hair color'.

According to the World Health Organization (WHO), "hearing impairment" is defined as "hearing loss greater than 40 decibels (dB) in the better ear in adults or greater than 30 dB in children." Therefore, "Persons with hearing impairments" refers to individuals who have a significant degree of hearing loss that affects their ability to communicate and perform daily activities.

Hearing impairment can range from mild to profound and can be categorized as sensorineural (inner ear or nerve damage), conductive (middle ear problems), or mixed (a combination of both). The severity and type of hearing impairment can impact the communication methods, assistive devices, or accommodations that a person may need.

It is important to note that "hearing impairment" and "deafness" are not interchangeable terms. While deafness typically refers to a profound degree of hearing loss that significantly impacts a person's ability to communicate using sound, hearing impairment can refer to any degree of hearing loss that affects a person's ability to hear and understand speech or other sounds.

Conductive hearing loss is a type of hearing loss that occurs when there is a problem with the outer or middle ear. Sound waves are not able to transmit efficiently through the ear canal to the eardrum and the small bones in the middle ear, resulting in a reduction of sound that reaches the inner ear. Causes of conductive hearing loss may include earwax buildup, fluid in the middle ear, a middle ear infection, a hole in the eardrum, or problems with the tiny bones in the middle ear. This type of hearing loss can often be treated through medical intervention or surgery.

Labyrinth diseases refer to conditions that affect the inner ear's labyrinth, which is the complex system of fluid-filled channels and sacs responsible for maintaining balance and hearing. These diseases can cause symptoms such as vertigo (a spinning sensation), dizziness, nausea, hearing loss, and tinnitus (ringing in the ears). Examples of labyrinth diseases include Meniere's disease, labyrinthitis, vestibular neuronitis, and benign paroxysmal positional vertigo. Treatment for these conditions varies depending on the specific diagnosis but may include medications, physical therapy, or surgery.

Ichthyosis is a group of skin disorders that are characterized by dry, thickened, scaly skin. The name "ichthyosis" comes from the Greek word "ichthys," which means fish, as the skin can have a fish-like scale appearance. These conditions can be inherited or acquired and vary in severity.

The medical definition of ichthyosis is a heterogeneous group of genetic keratinization disorders that result in dry, thickened, and scaly skin. The condition may affect any part of the body, but it most commonly appears on the extremities, scalp, and trunk. Ichthyosis can also have associated symptoms such as redness, itching, and blistering.

The severity of ichthyosis can range from mild to severe, and some forms of the condition may be life-threatening in infancy. The exact symptoms and their severity depend on the specific type of ichthyosis a person has. Treatment for ichthyosis typically involves moisturizing the skin, avoiding irritants, and using medications to help control scaling and inflammation.

The temporal bone is a paired bone that is located on each side of the skull, forming part of the lateral and inferior walls of the cranial cavity. It is one of the most complex bones in the human body and has several important structures associated with it. The main functions of the temporal bone include protecting the middle and inner ear, providing attachment for various muscles of the head and neck, and forming part of the base of the skull.

The temporal bone is divided into several parts, including the squamous part, the petrous part, the tympanic part, and the styloid process. The squamous part forms the lateral portion of the temporal bone and articulates with the parietal bone. The petrous part is the most medial and superior portion of the temporal bone and contains the inner ear and the semicircular canals. The tympanic part forms the lower and anterior portions of the temporal bone and includes the external auditory meatus or ear canal. The styloid process is a long, slender projection that extends downward from the inferior aspect of the temporal bone and serves as an attachment site for various muscles and ligaments.

The temporal bone plays a crucial role in hearing and balance, as it contains the structures of the middle and inner ear, including the oval window, round window, cochlea, vestibule, and semicircular canals. The stapes bone, one of the three bones in the middle ear, is entirely encased within the petrous portion of the temporal bone. Additionally, the temporal bone contains important structures for facial expression and sensation, including the facial nerve, which exits the skull through the stylomastoid foramen, a small opening in the temporal bone.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

The cochlear duct, also known as the scala media, is a membranous duct located within the cochlea of the inner ear. It is one of three fluid-filled compartments in the cochlea, along with the vestibular duct (scala vestibuli) and the tympanic duct (scala tympani).

The cochlear duct contains endolymph, a specialized fluid that carries electrical signals to the auditory nerve. The organ of Corti, which is responsible for converting sound vibrations into electrical signals, is located within the cochlear duct.

The cochlear duct runs along the length of the cochlea and is separated from the vestibular duct by Reissner's membrane and from the tympanic duct by the basilar membrane. These membranes help to create a highly sensitive and selective environment for sound perception, allowing us to hear and distinguish different frequencies and intensities of sound.

Ataxia is a medical term that refers to a group of disorders affecting coordination, balance, and speech. It is characterized by a lack of muscle control during voluntary movements, causing unsteady or awkward movements, and often accompanied by tremors. Ataxia can affect various parts of the body, such as the limbs, trunk, eyes, and speech muscles. The condition can be congenital or acquired, and it can result from damage to the cerebellum, spinal cord, or sensory nerves. There are several types of ataxia, including hereditary ataxias, degenerative ataxias, cerebellar ataxias, and acquired ataxias, each with its own specific causes, symptoms, and prognosis. Treatment for ataxia typically focuses on managing symptoms and improving quality of life, as there is no cure for most forms of the disorder.

Goiter is a medical term that refers to an enlarged thyroid gland. The thyroid gland is a small, butterfly-shaped gland located in the front of your neck below the larynx or voice box. It produces hormones that regulate your body's metabolism, growth, and development.

Goiter can vary in size and may be visible as a swelling at the base of the neck. It can be caused by several factors, including iodine deficiency, autoimmune disorders, thyroid cancer, pregnancy, or the use of certain medications. Depending on the underlying cause and the severity of the goiter, treatment options may include medication, surgery, or radioactive iodine therapy.

Auditory outer hair cells are specialized sensory receptor cells located in the cochlea of the inner ear. They are part of the organ of Corti and play a crucial role in hearing by converting sound energy into electrical signals that can be interpreted by the brain.

Unlike the more numerous and simpler auditory inner hair cells, outer hair cells are equipped with unique actin-based molecular motors called "motile" or "piezoelectric" properties. These motors enable the outer hair cells to change their shape and length in response to electrical signals, which in turn amplifies the mechanical vibrations of the basilar membrane where they are located. This amplification increases the sensitivity and frequency selectivity of hearing, allowing us to detect and discriminate sounds over a wide range of intensities and frequencies.

Damage or loss of outer hair cells is a common cause of sensorineural hearing loss, which can result from exposure to loud noises, aging, genetics, ototoxic drugs, and other factors. Currently, there are no effective treatments to regenerate or replace damaged outer hair cells, making hearing loss an irreversible condition in most cases.

Hearing aids are electronic devices designed to improve hearing and speech comprehension for individuals with hearing loss. They consist of a microphone, an amplifier, a speaker, and a battery. The microphone picks up sounds from the environment, the amplifier increases the volume of these sounds, and the speaker sends the amplified sound into the ear. Modern hearing aids often include additional features such as noise reduction, directional microphones, and wireless connectivity to smartphones or other devices. They are programmed to meet the specific needs of the user's hearing loss and can be adjusted for comfort and effectiveness. Hearing aids are available in various styles, including behind-the-ear (BTE), receiver-in-canal (RIC), in-the-ear (ITE), and completely-in-canal (CIC).

Mitochondrial DNA (mtDNA) is the genetic material present in the mitochondria, which are specialized structures within cells that generate energy. Unlike nuclear DNA, which is present in the cell nucleus and inherited from both parents, mtDNA is inherited solely from the mother.

MtDNA is a circular molecule that contains 37 genes, including 13 genes that encode for proteins involved in oxidative phosphorylation, a process that generates energy in the form of ATP. The remaining genes encode for rRNAs and tRNAs, which are necessary for protein synthesis within the mitochondria.

Mutations in mtDNA can lead to a variety of genetic disorders, including mitochondrial diseases, which can affect any organ system in the body. These mutations can also be used in forensic science to identify individuals and establish biological relationships.

Hereditary nephritis is a genetic disorder that causes recurring inflammation of the kidneys' glomeruli, which are the tiny blood vessel clusters that filter waste from the blood. This condition is also known as hereditary glomerulonephritis.

The inherited form of nephritis is caused by mutations in specific genes, leading to abnormalities in the proteins responsible for maintaining the structural integrity and proper functioning of the glomeruli. As a result, affected individuals typically experience hematuria (blood in urine), proteinuria (protein in urine), hypertension (high blood pressure), and progressive kidney dysfunction that can ultimately lead to end-stage renal disease (ESRD).

There are different types of hereditary nephritis, such as Alport syndrome and thin basement membrane nephropathy. These conditions have distinct genetic causes, clinical presentations, and inheritance patterns. Early diagnosis and appropriate management can help slow the progression of kidney damage and improve long-term outcomes for affected individuals.

Progressive bulbar palsy (PBP) is a form of motor neuron disease (MND), also known as Amyotrophic Lateral Sclerosis (ALS). It is characterized by the progressive degeneration of the motor neurons in the brainstem, which control vital functions such as swallowing, speaking, chewing, and breathing.

In PBP, these symptoms gradually worsen over time, often resulting in severe disability and ultimately death due to respiratory failure. The progression of the disease can vary from person to person, but it typically advances more slowly than other forms of ALS. There is currently no cure for PBP or any other form of MND, and treatment is focused on managing symptoms and maintaining quality of life.

The vestibular system is a part of the inner ear that contributes to our sense of balance and spatial orientation. It is made up of two main components: the vestibule and the labyrinth.

The vestibule is a bony chamber in the inner ear that contains two important structures called the utricle and saccule. These structures contain hair cells and fluid-filled sacs that help detect changes in head position and movement, allowing us to maintain our balance and orientation in space.

The labyrinth, on the other hand, is a more complex structure that includes the vestibule as well as three semicircular canals. These canals are also filled with fluid and contain hair cells that detect rotational movements of the head. Together, the vestibule and labyrinth work together to provide us with information about our body's position and movement in space.

Overall, the vestibular system plays a crucial role in maintaining our balance, coordinating our movements, and helping us navigate through our environment.

The ear is the sensory organ responsible for hearing and maintaining balance. It can be divided into three parts: the outer ear, middle ear, and inner ear. The outer ear consists of the pinna (the visible part of the ear) and the external auditory canal, which directs sound waves toward the eardrum. The middle ear contains three small bones called ossicles that transmit sound vibrations from the eardrum to the inner ear. The inner ear contains the cochlea, a spiral-shaped organ responsible for converting sound vibrations into electrical signals that are sent to the brain, and the vestibular system, which is responsible for maintaining balance.

A coloboma is a congenital condition that results from incomplete closure of the optic fissure during fetal development. This results in a gap or hole in one or more structures of the eye, such as the iris, retina, choroid, or optic nerve. The size and location of the coloboma can vary widely, and it may affect one or both eyes.

Colobomas can cause a range of visual symptoms, depending on their size and location. Some people with colobomas may have no visual impairment, while others may experience reduced vision, double vision, or sensitivity to light. In severe cases, colobomas can lead to blindness.

Colobomas are usually diagnosed during routine eye exams and are typically not treatable, although some visual symptoms may be managed with glasses, contact lenses, or surgery in certain cases. Colobomas can occur as an isolated condition or as part of a genetic syndrome, so individuals with colobomas may benefit from genetic counseling to understand their risk of passing the condition on to their offspring.

Acoustic stimulation refers to the use of sound waves or vibrations to elicit a response in an individual, typically for the purpose of assessing or treating hearing, balance, or neurological disorders. In a medical context, acoustic stimulation may involve presenting pure tones, speech sounds, or other types of auditory signals through headphones, speakers, or specialized devices such as bone conduction transducers.

The response to acoustic stimulation can be measured using various techniques, including electrophysiological tests like auditory brainstem responses (ABRs) or otoacoustic emissions (OAEs), behavioral observations, or functional imaging methods like fMRI. Acoustic stimulation is also used in therapeutic settings, such as auditory training programs for hearing impairment or vestibular rehabilitation for balance disorders.

It's important to note that acoustic stimulation should be administered under the guidance of a qualified healthcare professional to ensure safety and effectiveness.

The auditory cortex is the region of the brain that is responsible for processing and analyzing sounds, including speech. It is located in the temporal lobe of the cerebral cortex, specifically within the Heschl's gyrus and the surrounding areas. The auditory cortex receives input from the auditory nerve, which carries sound information from the inner ear to the brain.

The auditory cortex is divided into several subregions that are responsible for different aspects of sound processing, such as pitch, volume, and location. These regions work together to help us recognize and interpret sounds in our environment, allowing us to communicate with others and respond appropriately to our surroundings. Damage to the auditory cortex can result in hearing loss or difficulty understanding speech.

Keratoderma, palmoplantar is a medical term that refers to a group of skin conditions characterized by thickening and hardening (hyperkeratosis) of the skin on the palms of the hands and soles of the feet. This condition can affect people of all ages, but it's most commonly seen in children.

The thickening of the skin is caused by an overproduction of keratin, a protein that helps to form the tough, outer layer of the skin. In palmoplantar keratoderma, this excess keratin accumulates in the stratum corneum, the outermost layer of the epidermis, leading to the formation of rough, scaly, and thickened patches on the palms and soles.

There are several different types of palmoplantar keratoderma, each with its own specific symptoms and causes. Some forms of the condition are inherited and present at birth or develop in early childhood, while others may be acquired later in life as a result of an underlying medical condition, such as atopic dermatitis, lichen planus, or psoriasis.

Treatment for palmoplantar keratoderma typically involves the use of emollients and keratolytic agents to help soften and remove the thickened skin. In some cases, oral retinoids or other systemic medications may be necessary to manage more severe symptoms. It's important to consult with a healthcare provider for an accurate diagnosis and treatment plan.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

A LOD (Logarithm of Odds) score is not a medical term per se, but rather a statistical concept that is used in genetic research and linkage analysis to determine the likelihood of a gene or genetic marker being linked to a particular disease or trait. The LOD score compares the odds of observing the pattern of inheritance of a genetic marker in a family if the marker is linked to the disease, versus the odds if the marker is not linked. A LOD score of 3 or higher is generally considered evidence for linkage, while a score of -2 or lower is considered evidence against linkage.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

The cochlear nucleus is the first relay station in the auditory pathway within the central nervous system. It is a structure located in the lower pons region of the brainstem and receives sensory information from the cochlea, which is the spiral-shaped organ of hearing in the inner ear.

The cochlear nucleus consists of several subdivisions, each with distinct neuronal populations that process different aspects of auditory information. These subdivisions include the anteroventral cochlear nucleus (AVCN), posteroventral cochlear nucleus (PVCN), dorsal cochlear nucleus (DCN), and the granule cell domain.

Neurons in these subdivisions perform various computations on the incoming auditory signals, such as frequency analysis, intensity coding, and sound localization. The output of the cochlear nucleus is then sent via several pathways to higher brain regions for further processing and interpretation, including the inferior colliculus, medial geniculate body, and eventually the auditory cortex.

Damage or dysfunction in the cochlear nucleus can lead to hearing impairments and other auditory processing disorders.

... has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss ... "International Deafness Symbol". Deafness Forum Australia. Retrieved 2022-11-18. Campbell, Ruth; et al. (29 June 2007). "Sign ... In profound deafness, even the highest intensity sounds produced by an audiometer (an instrument used to measure hearing by ... In total deafness, no sounds at all, regardless of amplification or method of production, can be heard. Neurologically, ...
Tone deafness is a related, but distinct disorder from beat deafness. People with tone deafness can recognize beat and can move ... Researchers theorize that tone deafness can potentially be from any of these sections. Both beat deafness and tone deafness are ... Those with beat deafness are also unable to dance in step to any type of music. Even people who do not dance well can at least ... Beat deafness is a newly discovered form of congenital amusia, in which people lack the ability to identify or "hear" the beat ...
... thus producing the change deafness phenomenon. Additional studies of change deafness have generated evidence in support of the ... Change deafness is a perceptual phenomenon that occurs when, under certain circumstances, a physical change in an auditory ... The phenomenon of change deafness is thought to be related to the interactions between high and low level processes that ... In both cases, inattention to the relevant segment of the auditory scene results in more occurrences of change-deafness, where ...
DFNA: nonsyndromic deafness, autosomal dominant DFNB: nonsyndromic deafness, autosomal recessive DFNX: nonsyndromic deafness, X ... This type of deafness is not inherited from fathers. Late onset progressive deafness is the most common neurological disability ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness ... Nonsyndromic deafness can occur at any age. Hearing loss that is present before a child learns to speak is classified as ...
Verbal deafness and auditory agnosia are disorders of a selective, perceptive and associative nature whereas cortical deafness ... Cortical deafness is an auditory disorder where the patient is unable to hear sounds but has no apparent damage to the ... Cortical deafness is most often caused by stroke, but can also result from brain injury or birth defects. More specifically, a ... Patients with cortical deafness cannot hear any sounds, that is, they are not aware of sounds including non-speech, voices, and ...
... refers to deafness that occurs before learning speech or language. Speech and language typically begin to ... Therefore, prelingual deafness is considered to occur before the age of one, where a baby is either born deaf (known as ... This means that deafness, by itself, does not determine academic success or failure but rather interacts with many other ... "Deafness and hearing loss". www.who.int. Retrieved 2020-03-18. "Audiology Information Series: Childhood Hearing Loss" (PDF). ...
Deafness in Benin Deafness in the Democratic Republic of the Congo Deafness in Egypt History of deaf education in Africa "Being ... "A speechless collaboration: Deafness in Tunisia". InSPIRES. Retrieved October 12, 2022. "Tunisia , INCLUSION". Education ... "Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness". Genetic Epidemiology. 27 (1): 74-79. ...
... is a condition characterized by congenital neural deafness and a severe or extreme piebald-like ... July 1990). "Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I". Am. J. Hum. Genet. 47 (1): 20-7. ... Zlotogora J (November 1995). "X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis". Am. J. Med. ...
... carries with it a large social stigma. Deafness in Ghana is also a variegated subject, in large part due to ... Many hearing Ghanaians think deafness is a curse, sometimes handed down as punishment for a sin made in a previous life. This ... A source close to the situation indicates the primary solution to deafness in Ghana is the teaching of sign language in schools ... Experts believe that a lack of understanding of deafness at a popular level leads to ostracization of deaf children, preventing ...
There is limited information on the extent of Deafness in Haiti, due mainly to the lack of census data. Haiti's poor ... Furthermore, HSL is threatened by societal and cultural beliefs about deafness. These beliefs result in a lack of availability ... Upon discovering their child's deafness, some families take their children to hospitals to receive medications, and others to ... Articles with short description, Short description with empty Wikidata description, Deafness by country, Disability in Haiti). ...
... is a deafness which develops after the acquisition of speech and language, usually after the age of six. ... Certain genetic conditions can also lead to post-lingual deafness. In contrast to genetic causes of pre-lingual deafness, which ... When the loss is due to heredity, total deafness is often the result. On the one hand, persons who experience gradual ... Post-lingual hearing impairments are far more common than prelingual deafness. Typically, hearing loss is gradual, and often ...
Deafness in Poland Deafness in France "Italy Population (2023) - Worldometer". www.worldometers.info. Retrieved 2023-10-12. EUD ... "Mason Perkins Deafness Fund Onlus". Mason Perkins Deafness Fund Onlus. Retrieved 2022-10-24. "Accessibilità". www.fiaddatoscana ...
... is a topic that is relevant to individuality, education, and community. France has a long-running history of ... Many children who are born in France are actually screened for deafness within the first week of their lives, and many doctors ... All of these instances help form a community around deafness, and there are many who shy away from the societally-enforced ... The FNSF (Fédération Nationale des Sourds de France, National Federation of Deafness in France) is a federation involved in 89 ...
"Microcephaly-Deafness Syndrome". OMIM. Retrieved 5 May 2022. "Microcephaly-deafness-intellectual disability syndrome". Orphanet ... "Microcephaly Deafness Syndrome". MediFind. Retrieved 5 May 2022. "Microcephaly-deafness-intellectual disability syndrome". ... Microcephaly deafness syndrome is an extremely rare genetic disorder which consists of microcephaly, congenital hearing loss, ... "Microcephaly-Deafness Syndrome". MalaCards. Retrieved 5 May 2022. (Articles with short description, Short description is ...
... (The Hearing Research Trust) was the leading national British medical research charity working in the ... "Deafness Research UK (The Hearing Research Trust)". Useful contacts. Directgov. Archived from the original on 15 October 2012. ... It was founded as Defeating Deafness in 1985 by the late British Member of Parliament Jack Ashley and his wife Pauline. It ... Deafness organizations, Health charities in the United Kingdom, Health in the London Borough of Camden, Organisations based in ...
... refers to the population and culture of Deaf Hard of Hearing people in Thailand. Deafness in Thailand ... In the early 1930s, the deaf population in Ban Khor grew due to hereditary deafness in the population. BKSL began as a deaf ...
She concluded that families and people of the DHH community, either late-deafened or born deaf, were ashamed of deafness and ... These are people who became deaf after the language acquisition period or have acquired deafness later in life in some way. ... Disability in India Education in India § Deaf education in India Varshney, Saurabh (2016-04-01). "Deafness in India". Indian ... many families visited physicians to try to remedy their child's deafness. They also experimented on the deaf with traditional ...
... involves several elements such as the history, education, community, and medical treatment that must be ... "DFNB1-associated deafness in Portuguese cochlear implant users: Prevalence and impact on oral outcome". International Journal ... Deafness by country, Disability in Portugal, Deaf culture in Portugal). ...
Deafness in Poland Uzbekistan at the Deaflympics "Uzbek Sign Language (USL): to be, or not to be?". Dilmurad Yusupov. 2020-09- ... Deafness in Uzbekistan has cultural and medical implications. In 2019, the Society of the Deaf of Uzbekistan recorded that ...
Deafness in the Democratic Republic of the Congo Deafness in Egypt Deafness in Tunisia History of deaf education in Africa " ... revealed that Beninese views on deafness still remain mostly negative. Deafness is seen as a curse that is brought onto the ... In Benin, deafness affects 12,500 people out of their total population of 10 million. Since the late 1900s, there has been a ... This isn't seen as much anymore since the creation of the school in Louho and increased community awareness on deafness. As of ...
Rather than embrace the view that deafness is a "personal tragedy", the Deaf community contrasts the medical model of deafness ... Schein J (1987). "The demography of deafness". In Higgins FC, Nash JE (eds.). Understanding Deafness Socially. Springfield, IL ... to distinguish cultural Deafness from deafness as a pathology. Deaf culture is distinct in that the inability to hear is not ... In the medical model, deafness is viewed undesirable, and it is to the advantage of the individual as well as society as a ...
This is due to the fact that deafness rarely gets passed down in families, so many deaf and hard-of-hearing children in ...
... is a topic relevant to education and communities. Poland has a history with DHH (Deaf or Hard of hearing) ...
... encompasses many different topics. There are approximately 109,000 deaf people in Cuba. Some Cuban deaf people ... Deafness by country, Cuban culture, Disability in Cuba). ...
Deafness in Benin Deafness in the Democratic Republic of the Congo Deafness in Tunisia History of deaf education in Africa "The ... Deafness can be detected in certain cases at birth or throughout childhood in terms of communication delays and detecting ... Articles with specifically marked weasel-worded phrases from November 2022, Deafness by country, Disability in Egypt). ...
The lack of knowledge and awareness about deafness, as well as stigma against deafness, often leads to inadequate treatment. ... Deafness in Bangladesh is a major health issue. About 9.6% of the population of Bangladesh (about 13.7 million people as ... Deaf people in Bangladesh often attempt to hide their Deafness and may refuse to use hearing aids so as not to reveal their ... Sound Hearing by 2030 is an initiative proposed by the World Health Organization to eliminate 90% of deafness and hearing ...
... (DAD) or maternally inherited diabetes and deafness (MIDD) or mitochondrial diabetes is a subtype of ... This does not last long before the person has to be started on insulin (within 2 years of diagnosis). Deafness Diabetes Murphy ... diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point ... Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial ...
In Ireland, 8% of adults are affected by deafness or severe hearing loss. In other words, 300,000 Irish require supports due to ... In 2018 they were renamed Chime, and their mission statement is "to limit the impact of deafness and hearing loss through ... According to the "Initial Report of Ireland under the CRPD" in 2016, someone with deafness or a serious hearing impairment was ... Deafness by country, Deaf culture in Ireland). ...
During the hiring process, deaf people have reported unfair application rejections, sometimes expressly due to their deafness. ... CS1 Danish-language sources (da), Deaf culture in Denmark, Deafness by country). ...
The history of deafness in Iceland includes the history of Icelandic Sign Language (ISL) and its status as the first language ... or as soon as deafness, hearing impairment or deaf-blindness has been diagnosed. Their immediate family members shall have the ... Deafness by country, Disability in Iceland, Deaf culture in Iceland). ...
Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss ... "International Deafness Symbol". Deafness Forum Australia. Retrieved 2022-11-18. Campbell, Ruth; et al. (29 June 2007). "Sign ... In profound deafness, even the highest intensity sounds produced by an audiometer (an instrument used to measure hearing by ... In total deafness, no sounds at all, regardless of amplification or method of production, can be heard. Neurologically, ...
Cases of non-syndromic deafness are classified by the mode of inheritance (DFNA, dominant; DFNB, recessive; DFN, X-linked), ... We have identified mutations in four of those 17 deafness genes in Japanese families. Clinical and genetic findings of the ... Deafness genes J Med Dent Sci. 2000 Mar;47(1):1-11. ...
Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. Explore symptoms, inheritance, ... Deafness and myopia syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily ... Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have ... The prevalence of deafness and myopia syndrome is unknown. Only a few affected families have been described in the medical ...
Deafness impact on family and friends. Hearing loss and self-esteem. Related Articles. Editors Picks Articles. Top Ten ...
The U-M research could lead to a way to eliminate the threat of deafness to individuals treated with a common class of ... University of Michigan scientists have found that iron chelators can prevent deafness in guinea pigs exposed to antibiotics ... A Genetic Patch to Prevent Hereditary Deafness. Mar. 2, 2021 They can hear well up to about forty years old, but then suddenly ... Common Drugs May Prevent Antibiotic-Induced Deafness. Date:. October 6, 1997. Source:. University of Michigan. Summary:. ...
... at BellaOnline ... Subscribe for free weekly updates from this Deafness site.. ... 90% of deaf children are born to hearing parents(3). These people usually have no experience of deafness and have no idea how ...
Deafness, and the Body was published by Verso in 1995. The very concept of normalcy by which most people (by definition) shape ... If we focus on the former, we can trace lines of inherited deafness, as does Nora Ellen Groce in her study of deafness on ... but there was no discourse about deafness, no public policy on deafness, no educational institutions - and therefore the deaf ... In the exerpt below, Davis considers Deafness - and disibility more broadly - as nationality. ...
Deafness in the Genomics Era. Comprehensive clinical genetic testing did not exist when Shearer began graduate study at the UI ... "In order to do this we needed to isolate the genes known to cause deafness from the rest of the genome with a method called ... Shearers dissertation, "Deafness in the Genomics Era" has contributed to a paradigm shift in the care of patients with hearing ... "Instead of going one gene at a time, we wanted to sequence all the deafness genes at once," says Shearer, whose research was ...
... covers deafness as such.. I have Menieres Disease, which makes my hearing fluctuate from a 60dB loss to profound deafness. The ... Deafness as a disability:. Tina writes:. ,,Dear Dr. Vicars,. I am a severely hard of hearing individual (who is oral - but used ... I also believe that in the outside "Hearing world," there are exceptions where deafness is a disability, which is why the ADA ...
CMS can cause both sensorineural deafness and unilateral deafness, and may affect balance ... is a virus which can cause childhood deafness, ... Childhood deafness * What is deafness? * Levels of deafness * ... When might deafness happen? Half of all children with deafness caused by cCMV have a degree of deafness at birth and this may ... What type of deafness does CMV cause? cCMV causes sensorineural deafness. This type of deafness is permanent and can affect one ...
By Abigail Pattenden, Frontiers Science Writer A new discovery could help people suffering with single-sided deafness (SSD) ... By Abigail Pattenden, Frontiers Science Writer A new discovery could help people suffering with single-sided deafness (SSD) ... Preventing childhood deafness following treatment with life-saving cancer drugs. Dysfunction in mitochondria could be root ... New brain research may help treat single-sided deafness. By Abigail Pattenden, Frontiers Science Writer ...
Learn more about the various treatment options available for single sided deafness, a hearing impairment that occurs when one ... Single sided deafness. Single-sided deafness (SSD) is also known as profound unilateral hearing loss. It is a type of hearing ...
autosomal dominant nonsyndromic deafness 49 (DOID:0110572) Alliance: disease page Synonyms: autosomal dominant deafness 49; ... Definition: An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and ...
Find out about sensory loss, sight, hearing loss, deafness and deafblindness and the challenges faced for people with dementia. ... Deafness. We are learning more about the particular issues faced by deaf people with dementia, but still there is no real ... Dementia and deafness: What you need to know This 2005 booklet from Deaf Action in Scotland is based on an exploratory study ... This 2013 report from Action on Hearing Loss and the Deafness Cognition and Language Research Centre (UCL) argues that a joined ...
autosomal recessive nonsyndromic deafness 91 (DOID:0110536) Alliance: disease page Synonyms: autosomal recessive deafness 91; ... Definition: An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome ...
Webradio dedicated to the sonic dimension of contemporary art and culture. It is an open archive for soundart, interviews, documentaries and music.
About 38 million people in the Region have bilateral hearing loss. Two-thirds of these people are in developing countries and most would benefit from hearing aids. WHO estimates that nearly 40% of people over 65 have a disabling hearing impairment. It has launched an initiative to develop appropriate assistive devices for rapidly ageing populations. The World Report on Disability, 2011, highlights that 62 million people over the age of 60 experience hearing loss, of whom 70% live in low and middle-income countries.. Providing diagnostic procedures with appropriate professional education and affordable hearing aid services worldwide is the most effective and cost-effective way of reducing the burden of hearing impairment. Early identification through screening and the integration of ear care in primary health care could further reduce the burden. WHO Regional Office provides technical support to Member States in reducing avoidable hearing impairment and disability through appropriate preventive ...
Chest pain, deafness, shivering among top symptoms that could be Omicron BF.7. 1 min read 17 Oct 2022, 07:43 PM IST Meghna Sen ... Business News/ Science / Health/ Chest pain, deafness, shivering among top symptoms that could be Omicron BF.7 ...
Not every form of deafness in dogs is pigment-related. However, this is the most likely cause of congenital deafness in ... Deafness & White. This dogs left ear is white; she is deaf in her right ear.. Rev. Nov. 2013 ... The deafness is caused by lack of pigment in the inner ear. The genes which determine white markings impact pigment cells ... White on and around the ear is associated with deafness in many breeds of dog. Most double merles with white on or around the ...
Compounding this tone-deafness? Santee Coopers board approved Bonsalls incentives - and Duckworths salary - behind closed ... Santee Coopers Tone Deafness Continues With Exorbitant Executive Salaries. What are they thinking? ...
Genetic deafness is caused by the babys genes. Non-genetic deafness includes deafness caused by infections during pregnancy, ... 2. Aetiology and types of deafness. /2.2. Causes of deafness. /2.2. Causes of deafness. ... Deafness can be further described with the following definitions.. Genetic. Genetic deafness can be passed on or inherited via ... Paediatric deafness can be generally described as congenital or acquired.. Congenital. Congenital deafness is present from ...
You may be aware that Lilian Lawson OBE, Director of the Scottish Council on Deafness (SCoD), is retiring in December. ...
Deafness is a decreased ability or complete inability to hear. It may be partial or total and affect one or both ears. ... Risk factors are a family history of deafness and having a job or hobby with exposure to high noise levels (such as rock ... For profound hearing loss (deafness), a cochlear implant can sometimes help. This implant, placed inside the ear, is a type of ... National Institute on Deafness and Other Communication Disorders. Tel: (800) 241-1044. Website: http://www.nidcd.nih.gov/health ...
... Understanding Single Sided Deafness: ... Causes of Single-Sided Deafness. This discussion will not be an exhaustive list by any means, but one of the known causes of ... Solutions for Single-Sided Deafness. We have come to a point in technology where we have viable solutions for SSD. ... The term single-sided deafness was actually coined by the predecessor company, Entific, when they started offering Baha for SSD ...
Infantile X‐linked ataxia and deafness. A new clinicopathologic entity?. James W. Schmidley, Morris W. Levinsohn, Valeria ...
Woman Healed of Fibromyalgia & Deafness!. 2014, 2014 thru 2018, Brazil / By Trips Department ...
deafness answers are found in the Tabers Medical Dictionary powered by Unbound Medicine. Available for iPhone, iPad, Android, ... "Deafness." Tabers Medical Dictionary, 24th ed., F.A. Davis Company, 2021. Tabers Online, www.tabers.com/tabersonline/view/ ... Tabers-Dictionary/730897/all/deafness. Deafness. In: Venes DD, ed. Tabers Medical Dictionary. F.A. Davis Company; 2021. https ... Deafness [Internet]. In: Venes DD, editors. Tabers Medical Dictionary. F.A. Davis Company; 2021. [cited 2023 September 27]. ...
FERRETS - Deafness. by HART Kahuna , posted in: Pet Training Videos , 0 In this video of EVERYTHING ABOUT YOUR PET we explain ... Did you know that deafness is quite usual in this type of animal? ... everything that refers to the ferret deafness and the tricks ...
Deafness in Three Movementss production, company, and contact information. Explore Moonlight Sonata: Deafness in Three ... Become a member to see MOVIEmeter and news information about Moonlight Sonata: Deafness in Three Movements. ... Become a member to see Box Office information about Moonlight Sonata: Deafness in Three Movements. ... Become a member to see contact information for Moonlight Sonata: Deafness in Three Movements. ...
Representations of Deafness and Deaf People in Young Adult Fiction Authors. *Sharon Pajka-West Gallaudet University ... Bergman, E. "Literature, Fictional characters in." In J.V. Van Cleve (ed.), Gallaudet Encyclopedia of Deaf People & Deafness. ... Krentz, C. "Exploring the Hearing Line: Deafness, Laughter, and Mark Twain." In S. L. Snyder, B. J. Brueggemann, and R. ... She did not want to read didactic books about deafness but wanted books with unpredictable plots and believable characters. ...
  • cCMV causes sensorineural deafness . (ndcs.org.uk)
  • SSD is an indication for a Baha for patients who suffer from unilateral sensorineural deafness on one ear, while the other ear has normal hearing of no worse than 20 dB. (audiologyonline.com)
  • This results in eight possible combinations, such as acquired later-onset sensorineural deafness. (vin.com)
  • The most commonly seen forms of deafness in companion animals are (1) hereditary congenital sensorineural deafness, (2) acquired later-onset sensorineural deafness, and (3) acquired later-onset conductive deafness. (vin.com)
  • Allport syndrome, which presents with both sensorineural deafness and kidney disease, is an example. (vin.com)
  • Finally, sensorineural deafness can be primary or secondary. (vin.com)
  • A new discovery could help people suffering with single-sided deafness (SSD) find a treatment quicker - and could potentially lead to a cure. (frontiersin.org)
  • Single-sided deafness (SSD) is also known as profound unilateral hearing loss. (sunnybrook.ca)
  • As a matter of disclaimer, I am going be talking about a number of devices that Cochlear does not manufacture or distribute, because the purpose of this presentation is to show the landscape of what is available for patients with single-sided deafness (SSD). (audiologyonline.com)
  • The term single-sided deafness was actually coined by the predecessor company, Entific, when they started offering Baha for SSD. (audiologyonline.com)
  • Children with cCMV may also experience glue ear , which causes temporary conductive deafness. (ndcs.org.uk)
  • Conductive deafness is blockage of sound transmission through the outer and/or middle ear without damage to the cochlea. (vin.com)
  • Acquired conductive deafness may result from otitis externa, otitis media, excess cerumen production, or congenital defects in the ossicles (rare). (vin.com)
  • One fulltime tractor driver was diagnosed with nerve conductive deafness. (cdc.gov)
  • However, this is the most likely cause of congenital deafness in Australian Shepherds. (ashgi.org)
  • Congenital deafness is present from birth and can be classified as genetic or non-genetic. (batod.org.uk)
  • Congenital deafness occurs during pregnancy or delivery and in such syndromes as neurofibromatosis or Usher syndrome. (tabers.com)
  • Most congenital deafness is hereditary, and most later-onset deafness (as far as we know) is acquired, although there are human forms of inherited later-onset deafness. (vin.com)
  • The brains of people with congenital deafness may be rewiring themselves in ways that affect how those people learn, suggesting a need to develop new teaching techniques tailored toward those who have never been able to hear. (reachmd.com)
  • There may not be any known family history of deafness, depending on whether the gene is dominant or recessive. (batod.org.uk)
  • Risk factors are a family history of deafness and having a job or hobby with exposure to high noise levels (such as rock musicians or jackhammer operators). (carle.org)
  • For profound hearing loss (deafness), a cochlear implant can sometimes help. (carle.org)
  • Sensorineural (nerve) deafness is loss of auditory function because of loss of cochlear hair cells or auditory nerve neurons. (vin.com)
  • The results suggest that duration of deafness in the severe-to-profoundly deaf ear and hearing sensitivity in the better (non-implanted) ear may be relevant when seeking to identify those candidates who are likely to obtain benefit following cochlear implantation. (nottingham.ac.uk)
  • In profound deafness, even the highest intensity sounds produced by an audiometer (an instrument used to measure hearing by producing pure tone sounds through a range of frequencies) may not be detected. (wikipedia.org)
  • I have Meniere's Disease, which makes my hearing fluctuate from a 60dB loss to profound deafness. (lifeprint.com)
  • cCMV may cause unilateral deafness (deafness in one ear). (ndcs.org.uk)
  • Unilateral deafness and highly-asymmetric hearing loss can impair listening abilities in everyday situations, create substantial audiological handicap, and reduce overall quality of life. (nottingham.ac.uk)
  • An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25. (jax.org)
  • An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. (jax.org)
  • In human audiology deafness is also classified as syndromic (associated with other disorders) or nonsyndromic. (vin.com)
  • We have identified mutations in four of those 17 deafness genes in Japanese families. (nih.gov)
  • Using recent advances in DNA sequencing, University of Iowa medical student Eliot Shearer helped create a single test that screens for all 70 known deafness-causing genes, making diagnostic testing more cost-effective for patients. (scienceblog.com)
  • Instead of going one gene at a time, we wanted to sequence all the deafness genes at once," says Shearer, whose research was funded by an NIH F30 Predoctoral Fellowship. (scienceblog.com)
  • In order to do this we needed to isolate the genes known to cause deafness from the rest of the genome with a method called targeted sequence capture. (scienceblog.com)
  • Eliot utilized cutting edge advances in DNA sequencing to simultaneously screen a large number of known deafness-causing genes," says Michael Anderson, associate professor of molecular physiology and biophysics and member of Shearer's dissertation review committee. (scienceblog.com)
  • Genetic deafness is caused by the baby's genes. (batod.org.uk)
  • 1 Forty recessive deafness loci (DFNB) have been mapped and the genes responsible at 20 of these loci have been reported. (bmj.com)
  • In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. (wikipedia.org)
  • The two definitions overlap but are not identical, as hearing loss includes cases that are not severe enough to impact spoken language comprehension, while cultural Deafness includes hearing people who use sign language, such as children of deaf adults. (wikipedia.org)
  • Deafness can be broken down into four different types of hearing loss: conductive hearing loss, sensorineural hearing loss, mixed hearing loss, and auditory neuropathy spectrum disorder. (wikipedia.org)
  • Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth, resulting in the hearing loss and nearsightedness that occur in deafness and myopia syndrome. (medlineplus.gov)
  • Shearer's dissertation, "Deafness in the Genomics Era" has contributed to a paradigm shift in the care of patients with hearing loss. (scienceblog.com)
  • This 2013 report from Action on Hearing Loss and the Deafness Cognition and Language Research Centre (UCL) argues that a joined-up approach is needed to the assessment, diagnosis and management of both hearing loss and dementia. (scie.org.uk)
  • People who suffer from hearing loss or deafness have an option for getting implants installed . (indiatimes.com)
  • deafness and hearing loss are a significant global public health issue, and it's time to act worldwide. (cochlear.com)
  • The deafness segregating in family PKSN32 was not linked to any of the known recessive or dominant deafness loci (Hereditary Hearing Loss Homepage, http://dnalab-www.uia.ac.be/dnalab/hhh/ ). (bmj.com)
  • Mutations in the otoferlin gene are linked to severe congenital hearing loss, a common type of deafness in which patients can hear almost nothing. (reachmd.com)
  • Children with hearing loss and deafness in developing countries rarely receive any schooling. (who.int)
  • The prevalence of deafness and myopia syndrome is unknown. (medlineplus.gov)
  • Non-genetic deafness includes deafness caused by infections during pregnancy, infections the newborn baby has, trauma, prematurity, low birth weight, or hyperbilirubinemia. (batod.org.uk)
  • Genetic deafness can be passed on or inherited via DNA due to a mutated gene. (batod.org.uk)
  • Deafness and myopia syndrome is caused by mutations in the SLITRK6 gene. (medlineplus.gov)
  • SLITRK6 gene mutations that cause deafness and myopia syndrome result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane. (medlineplus.gov)
  • SLITRK6 mutations cause myopia and deafness in humans and mice. (medlineplus.gov)
  • The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness. (bmj.com)
  • Because large numbers of deaf puppies and kittens get put down, it is important to identify animals affected by the hereditary forms of deafness B both unilaterally and bilaterally deaf B and remove them from the potential breeding pool to reduce the number of future deaf animals. (vin.com)
  • This occurs in hereditary deafness in Doberman pinchers, some forms of ototoxicity, and presbycusis. (vin.com)
  • Despite there being very little public awareness, CMV is more common than many other conditions associated with deafness such as Down's syndrome, spina bifida, toxoplasmosis and cystic fibrosis. (ndcs.org.uk)
  • Members of the Deaf community tend to view deafness as a difference in human experience rather than a disability or disease. (wikipedia.org)
  • I also believe that in the outside "Hearing world," there are exceptions where deafness is a disability, which is why the ADA covers deafness as such. (lifeprint.com)
  • RCW 46.20.161: Issuance-Contents-Fee-Veterans, individuals meeting criteria for veterans-Medical alert designation, developmental disability designation, or deafness designation-Self-attestation. (wa.gov)
  • The paper reflects some of the main reasons for such marginalisation and argues how marginalisation is a result of some crucial misunderstandings in relation to (signed) languages, language learning, deafness, and disability. (degruyter.com)
  • A range of different diseases of the ear have the potential to cause deafness, for example, cholesteatoma, Meniere's disease, mastoiditis, and persistent otitis media with effusion (glue ear). (batod.org.uk)
  • This is more common in children with asymptomatic (showing no other symptoms) cCMV, and some may develop deafness in the other ear later. (ndcs.org.uk)
  • Results of search for 'au:'WHO Programme for the Prevention of Blindness and Deafness. (who.int)
  • ESPN , a gene in the DFNB36 critical interval at 1p36.3, was a good positional candidate because a mutation of Espn is known to cause deafness and vestibular dysfunction in the jerker mouse. (bmj.com)
  • In the exerpt below, Davis considers Deafness - and disibility more broadly - as nationality. (versobooks.com)
  • This article, which forms the basis of the first chapter of Shearer's dissertation, has been broadly cited by scientists within and outside the deafness field, according to Smith. (scienceblog.com)
  • Toxic deafness may result from exposure to such agents as salicylates, diuretics, or aminoglycoside antibiotics, or be due to infections of the central nervous system (meningococcal meningitis, syphilis) or of the eighth cranial nerve. (tabers.com)
  • Nine part time tractor drivers had equivocal evidence of nerve deafness. (cdc.gov)
  • If clinical trials show that iron chelators work as well in humans as they do inguinea pigs, the U-M research could lead to a safe and inexpensive way toeliminate the threat of deafness to individuals treated with a common class ofbroad-spectrum antibiotics called aminoglycosides. (sciencedaily.com)
  • Deafness has varying definitions in cultural and medical contexts. (wikipedia.org)
  • Deafness can be further described with the following definitions. (batod.org.uk)
  • Half of all children with deafness caused by cCMV have a degree of deafness at birth and this may be picked up following newborn hearing screening. (ndcs.org.uk)
  • The other half go on to develop deafness after birth and will have had no problems identified on their newborn hearing screen. (ndcs.org.uk)
  • Not every form of deafness in dogs is pigment-related. (ashgi.org)
  • Before you rack your brain to consider the disadvantages of his position, you should know that LeBlanc does not view his deafness as a burden. (mic.com)
  • The biggest thing that I want to communicate through the show is that I don't perceive my deafness as a burden, but as an opportunity to show people that there are ways to make things work. (mic.com)
  • There are millions of people in the world who are living with deafness or hearing impairments. (wikipedia.org)
  • These people usually have no experience of deafness and have no idea how to treat it. (bellaonline.com)
  • However, in some babies and older people, use of the drug can result in sensori-neural deafness. (batod.org.uk)
  • Some children born with cCMV may develop deafness later in childhood. (ndcs.org.uk)
  • Half of the children whose deafness is caused by cCMV will have progressive or late onset deafness (becoming worse over time). (ndcs.org.uk)
  • This type of deafness is permanent and can affect one or both ears. (ndcs.org.uk)
  • Deafness means partial or complete loss of hearing in one or both ears and can range from mild to severe to profound. (medlineplus.gov)
  • Cisplatin-based chemotherapy agents used in childhood cancer treatment can result in sensori-neural deafness. (batod.org.uk)
  • In a medical context, deafness is defined as a degree of hearing difference such that a person is unable to understand speech, even in the presence of amplification. (wikipedia.org)
  • Most deafness caused by cCMV develops during the first three years of life and so may affect speech and language development. (ndcs.org.uk)
  • University of Michigan scientists have found that iron chelators can prevent deafness in guinea pigs exposed to antibiotics that damage delicate hair cells in the inner ear. (sciencedaily.com)
  • ANN ARBOR---University of Michigan scientists have found that ironchelators---medications used to "soak up" excess iron in the bloodstream---canprevent deafness in guinea pigs exposed to antibiotics that damage delicate haircells in the inner ear. (sciencedaily.com)
  • The deafness is caused by lack of pigment in the inner ear. (ashgi.org)
  • Deafness can be caused by structural abnormalities of the outer, middle, or inner ear. (batod.org.uk)
  • We mapped a human deafness locus DFNB36 to chromosome 1p36.3 in two consanguineous families segregating recessively inherited deafness and vestibular areflexia. (bmj.com)
  • Did you know that deafness is quite usual in this type of animal? (petlvr.com)
  • The U-M research could lead to a way to eliminate the threat of deafness to individuals treated with a common class of antibiotics. (sciencedaily.com)
  • We're working hard on the biology of deafness and also trying to work our research into the other areas to come up with new ways of improving things. (reachmd.com)
  • Primary deafness results from destruction of hair cells in the cochlea without antecedent events. (vin.com)
  • It includes the set of social beliefs, behaviors, art, literary traditions, history, values, and shared institutions of communities that are influenced by deafness and which use sign languages as the main means of communication. (wikipedia.org)
  • Forms of deafness can be sorted into three complimentary categories, each with two types. (vin.com)
  • The aetiology of deafness can influence how we work with a child or young person and impact the advice that we may give, eg communication style, placement options, and additional professionals. (batod.org.uk)