Hearing Loss, Sensorineural
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.
Hearing Loss, Noise-Induced
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)
The ability or act of sensing and transducing ACOUSTIC STIMULATION to the CENTRAL NERVOUS SYSTEM. It is also called audition.
Hearing Loss, Conductive
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.
Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways.
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.
Hearing Loss, Sudden
Measurement of hearing based on the use of pure tones of various frequencies and intensities as auditory stimuli.
Hearing Loss, Unilateral
Partial or complete hearing loss in one ear.
Gradual bilateral hearing loss associated with aging that is due to progressive degeneration of cochlear structures and central auditory pathways. Hearing loss usually begins with the high frequencies then progresses to sounds of middle and low frequencies.
Evoked Potentials, Auditory, Brain Stem
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.
Persons With Hearing Impairments
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.
Ear Protective Devices
Personal devices for protection of the ears from loud or high intensity noise, water, or cold. These include earmuffs and earplugs.
Correction of Hearing Impairment
Procedures for correcting HEARING DISORDERS.
Hearing Loss, Functional
Otoacoustic Emissions, Spontaneous
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.
Hearing Loss, Central
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.
Audiometry, Evoked Response
A form of electrophysiologic audiometry in which an analog computer is included in the circuit to average out ongoing or spontaneous brain wave activity. A characteristic pattern of response to a sound stimulus may then become evident. Evoked response audiometry is known also as electric response audiometry.
A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other noises in the ear. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; and other conditions.
Acoustic Impedance Tests
Objective tests of middle ear function based on the difficulty (impedance) or ease (admittance) of sound flow through the middle ear. These include static impedance and dynamic impedance (i.e., tympanometry and impedance tests in conjunction with intra-aural muscle reflex elicitation). This term is used also for various components of impedance and admittance (e.g., compliance, conductance, reactance, resistance, susceptance).
Hair Cells, Auditory
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.
Education of Hearing Disabled
The teaching or training of those individuals with hearing disability or impairment.
The audibility limit of discriminating sound intensity and pitch.
Transmission of sound waves through vibration of bones in the SKULL to the inner ear (COCHLEA). By using bone conduction stimulation and by bypassing any OUTER EAR or MIDDLE EAR abnormalities, hearing thresholds of the cochlea can be determined. Bone conduction hearing differs from normal hearing which is based on air conduction stimulation via the EAR CANAL and the TYMPANIC MEMBRANE.
Use of sound to elicit a response in the nervous system.
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.
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
Hearing Loss, Mixed Conductive-Sensorineural
Hearing loss due to damage or impairment of both the conductive elements (HEARING LOSS, CONDUCTIVE) and the sensorineural elements (HEARING LOSS, SENSORINEURAL) of the ear.
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).
The space and structures directly internal to the TYMPANIC MEMBRANE and external to the inner ear (LABYRINTH). Its major components include the AUDITORY OSSICLES and the EUSTACHIAN TUBE that connects the cavity of middle ear (tympanic cavity) to the upper part of the throat.
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.
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.
Organ of Corti
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.
Pathological processes of the inner ear (LABYRINTH) which contains the essential apparatus of hearing (COCHLEA) and balance (SEMICIRCULAR CANALS).
An oval semitransparent membrane separating the external EAR CANAL from the tympanic cavity (EAR, MIDDLE). It contains three layers: the skin of the external ear canal; the core of radially and circularly arranged collagen fibers; and the MUCOSA of the middle ear.
Ability to make speech sounds that are recognizable.
Hair Cells, Auditory, Outer
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.
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.
Speech Reception Threshold Test
A test to determine the lowest sound intensity level at which fifty percent or more of the spondaic test words (words of two syllables having equal stress) are repeated correctly.
An abnormally disproportionate increase in the sensation of loudness in response to auditory stimuli of normal volume. COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; FACIAL NERVE DISEASES; STAPES SURGERY; and other disorders may be associated with this condition.
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.
Hair Cells, Auditory, Inner
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.
Examination of the EAR CANAL and eardrum with an OTOSCOPE.
Speech Discrimination Tests
Tests of the ability to hear and understand speech as determined by scoring the number of words in a word list repeated correctly.
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.
A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)
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.
Evoked Potentials, Auditory
The electric response evoked in the CEREBRAL CORTEX by ACOUSTIC STIMULATION or stimulation of the AUDITORY PATHWAYS.
Round Window, Ear
Fenestra of the cochlea, an opening in the basal wall between the MIDDLE EAR and the INNER EAR, leading to the cochlea. It is closed by a secondary tympanic membrane.
NEURAL PATHWAYS and connections within the CENTRAL NERVOUS SYSTEM, beginning at the hair cells of the ORGAN OF CORTI, continuing along the eighth cranial nerve, and terminating at the AUDITORY CORTEX.
The graphic registration of the frequency and intensity of sounds, such as speech, infant crying, and animal vocalizations.
Inflammation of the inner ear (LABYRINTH).
Genes that influence the PHENOTYPE only in the homozygous state.
Vestibulocochlear Nerve Diseases
Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS.
Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.
Otitis Media with Effusion
Inflammation of the middle ear with a clear pale yellow-colored transudate.
The science or study of speech sounds and their production, transmission, and reception, and their analysis, classification, and transcription. (Random House Unabridged Dictionary, 2d ed)
An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)
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.
The science pertaining to the interrelationship of psychologic phenomena and the individual's response to the physical properties of sound.
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.
Otologic Surgical Procedures
Surgery performed on the external, middle, or internal ear.
Ability to determine the specific location of a sound source.
The perceived attribute of a sound which corresponds to the physical attribute of intensity.
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.
A dimension of auditory sensation varying with cycles per second of the sound stimulus.
The acoustic aspects of speech in terms of frequency, intensity, and time.
A mobile chain of three small bones (INCUS; MALLEUS; STAPES) in the TYMPANIC CAVITY between the TYMPANIC MEMBRANE and the oval window on the wall of INNER EAR. Sound waves are converted to vibration by the tympanic membrane then transmitted via these ear ossicles to the inner ear.
Cochlear Microphonic Potentials
The electric response of the cochlear hair cells to acoustic stimulation.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
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.
Tympanic Membrane Perforation
A temporary or persistent opening in the eardrum (TYMPANIC MEMBRANE). Clinical signs depend on the size, location, and associated pathological condition.
National Institute for Occupational Safety and Health (U.S.)
Vestibular Function Tests
A number of tests used to determine if the brain or balance portion of the inner ear are causing dizziness.
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.
United States Occupational Safety and Health Administration
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.
Surgical reconstruction of the hearing mechanism of the middle ear, with restoration of the drum membrane to protect the round window from sound pressure, and establishment of ossicular continuity between the tympanic membrane and the oval window. (Dorland, 28th ed.)
Inflammation of the MIDDLE EAR including the AUDITORY OSSICLES and the EUSTACHIAN TUBE.
Threshold Limit Values
Standards for limiting worker exposure to airborne contaminants. They are the maximum concentration in air at which it is believed that a particular substance will not produce adverse health effects with repeated daily exposure. It can be a time-weighted average (TLV-TWA), a short-term value (TLV-STEL), or an instantaneous value (TLV-Ceiling). They are expressed either as parts per million (ppm) or milligram per cubic meter (mg/m3).
Labyrinth Supporting Cells
Cells forming a framework supporting the sensory AUDITORY HAIR CELLS in the organ of Corti. Lateral to the medial inner hair cells, there are inner pillar cells, outer pillar cells, Deiters cells, Hensens cells, Claudius cells, Boettchers cells, and others.
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)
The lymph fluid found in the membranous labyrinth of the ear. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
Saccule and Utricle
Two membranous sacs within the vestibular labyrinth of the INNER EAR. The saccule communicates with COCHLEAR DUCT through the ductus reuniens, and communicates with utricle through the utriculosaccular duct from which the ENDOLYMPHATIC DUCT arises. The utricle and saccule have sensory areas (acoustic maculae) which are innervated by the VESTIBULAR NERVE.
The 8th cranial nerve. The vestibulocochlear nerve has a cochlear part (COCHLEAR NERVE) which is concerned with hearing and a vestibular part (VESTIBULAR NERVE) which mediates the sense of balance and head position. The fibers of the cochlear nerve originate from neurons of the SPIRAL GANGLION and project to the cochlear nuclei (COCHLEAR NUCLEUS). The fibers of the vestibular nerve arise from neurons of Scarpa's ganglion and project to the VESTIBULAR NUCLEI.
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.
A surgical specialty concerned with the study and treatment of disorders of the ear, nose, and throat.
Severity of Illness Index
The yellow or brown waxy secretions produced by vestigial apocrine sweat glands in the external ear canal.
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.
Transcription Factor Brn-3C
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.
Otitis Media, Suppurative
Inflammation of the middle ear with purulent discharge.
Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.
The narrow passage way that conducts the sound collected by the EAR AURICLE to the TYMPANIC MEMBRANE.
The blind pouch at the end of the endolymphatic duct. It is a storage reservoir for excess ENDOLYMPH, formed by the blood vessels in the membranous labyrinth.
Spiral Ligament of Cochlea
A spiral thickening of the fibrous lining of the cochlear wall. Spiral ligament secures the membranous COCHLEAR DUCT to the bony spiral canal of the COCHLEA. Its spiral ligament fibrocytes function in conjunction with the STRIA VASCULARIS to mediate cochlear ion homeostasis.
KCNQ Potassium Channels
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.
The part of the membranous labyrinth that traverses the bony vestibular aqueduct and emerges through the bone of posterior cranial fossa (CRANIAL FOSSA, POSTERIOR) where it expands into a blind pouch called the endolymphatic sac.
Disease Models, Animal
Any enterprise centered on the processing, assembly, production, or marketing of a line of products, services, commodities, or merchandise, in a particular field often named after its principal product. Examples include the automobile, fishing, music, publishing, insurance, and textile industries.
Speech Production Measurement
Measurement of parameters of the speech product such as vocal tone, loudness, pitch, voice quality, articulation, resonance, phonation, phonetic structure and prosody.
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
Language Development Disorders
Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors.
Hair Cells, Vestibular
Sensory cells in the acoustic maculae with their apical STEREOCILIA embedded in a gelatinous OTOLITHIC MEMBRANE. These hair cells are stimulated by the movement of otolithic membrane, and impulses are transmitted via the VESTIBULAR NERVE to the BRAIN STEM. Hair cells in the saccule and those in the utricle sense linear acceleration in vertical and horizontal directions, respectively.
Auditory Perceptual Disorders
Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech.
An implant used to replace one or more of the ear ossicles. They are usually made of plastic, Gelfoam, ceramic, or stainless steel.
An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.
Three long canals (anterior, posterior, and lateral) of the bony labyrinth. They are set at right angles to each other and are situated posterosuperior to the vestibule of the bony labyrinth (VESTIBULAR LABYRINTH). The semicircular canals have five openings into the vestibule with one shared by the anterior and the posterior canals. Within the canals are the SEMICIRCULAR DUCTS.
A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss.
The dense rock-like part of temporal bone that contains the INNER EAR. Petrous bone is located at the base of the skull. Sometimes it is combined with the MASTOID PROCESS and called petromastoid part of temporal bone.
The posterior part of the temporal bone. It is a projection of the petrous bone.
Disorders of the quality of speech characterized by the substitution, omission, distortion, and addition of phonemes.
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Cryopyrin-Associated Periodic Syndromes
A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.
Auditory Diseases, Central
Disorders of hearing or auditory perception due to pathological processes of the AUDITORY PATHWAYS in the CENTRAL NERVOUS SYSTEM. These include CENTRAL HEARING LOSS and AUDITORY PERCEPTUAL DISORDERS.
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.
An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)
Oval Window, Ear
Cholesteatoma, Middle Ear
A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Vestibular Evoked Myogenic Potentials
Recorded electrical responses from muscles, especially the neck muscles or muscles around the eyes, following stimulation of the EAR VESTIBULE.
Anion Transport Proteins
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
A basement membrane in the cochlea that supports the hair cells of the ORGAN OF CORTI, consisting keratin-like fibrils. It stretches from the SPIRAL LAMINA to the basilar crest. The movement of fluid in the cochlea, induced by sound, causes displacement of the basilar membrane and subsequent stimulation of the attached hair cells which transform the mechanical signal into neural activity.
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.
Hereditary Sensory and Autonomic Neuropathies
A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)