A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
A characteristic symptom complex.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
'Elastin' is a highly elastic protein in connective tissue that allows many tissues in the body to resume their shape after stretching or contracting, such as the skin, lungs, and blood vessels.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
Serine protein kinases involved in the regulation of ACTIN polymerization and MICROTUBULE disassembly. Their activity is regulated by phosphorylation of a threonine residue within the activation loop by intracellular signaling kinases such as P21-ACTIVATED KINASES and by RHO KINASE.
A psychological theory based on dimensions or categories used by a given person in describing or explaining the personality and behavior of others or of himself. The basic idea is that different people will use consistently different categories. The theory was formulated in the fifties by George Kelly. Two tests devised by him are the role construct repertory test and the repertory grid test. (From Stuart Sutherland, The International Dictionary of Psychology, 1989)
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.
Time period from 1801 through 1900 of the common era.
Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.
The ability to generate new ideas or images.
The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.
'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.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
Time period from 1601 through 1700 of the common era.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
The part of the face above the eyes.
The part of the face that is below the eye and to the side of the nose and mouth.

Comparative mapping of the region of human chromosome 7 deleted in williams syndrome. (1/254)

Williams syndrome (WS) is a complex developmental disorder resulting from the deletion of a large (approximately 1.5-2 Mb) segment of human chromosome 7q11.23. Physical mapping studies have revealed that this deleted region, which contains a number of known genes, is flanked by several large, nearly identical blocks of DNA. The presence of such highly related DNA segments in close physical proximity to one another has hampered efforts to elucidate the precise long-range organization of this segment of chromosome 7. To gain insight about the structure and evolutionary origins of this important and complex genomic region, we have constructed a fully contiguous bacterial artificial chromosome (BAC) and P1-derived artificial chromosome (PAC) contig map encompassing the corresponding region on mouse chromosome 5. In contrast to the difficulties encountered in constructing a clone-based physical map of the human WS region, the BAC/PAC-based map of the mouse WS region was straightforward to construct, with no evidence of large duplicated segments, such as those encountered in the human WS region. To confirm this difference, representative human and mouse BACs were used as probes for performing fluorescence in situ hybridization (FISH) to metaphase and interphase chromosomes. Human BACs derived from the nonunique portion of the WS region hybridized to multiple, closely spaced regions on human chromosome 7q11.23. In contrast, corresponding mouse BACs hybridized to a single site on mouse chromosome 5. Furthermore, FISH analysis revealed the presence of duplicated segments within the WS region of various nonhuman primates (chimpanzee, gorilla, orangutan, and gibbon). Hybridization was also noted at the genomic locations corresponding to human chromosome 7p22 and 7q22 in human, chimpanzee, and gorilla, but not in the other animal species examined. Together, these results indicate that the WS region is associated with large, duplicated blocks of DNA on human chromosome 7q11.23 as well as the corresponding genomic regions of other nonhuman primates. However, such duplications are not present in the mouse.  (+info)

Williams-Beuren syndrome: genes and mechanisms. (2/254)

Williams-Beuren syndrome (WBS; OMIM 194050) is caused by heterozygous deletions of approximately 1.6 Mb of chromosomal sub-band 7q11.23. The deletions are rather uniform in size as they arise spontaneously by inter- or intrachromosomal crossover events within misaligned duplicated regions of high sequence identity that flank the typical deletion. This review will discuss the status of the molecular characterization of the deletion and flanking regions, the genes identified in the deletion region and their possible roles in generating the complex multi-system clinical phenotype.  (+info)

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. (3/254)

Williams-Beuren syndrome (WS) is a developmental disorder caused by a hemizygous microdeletion of approximately 1.4MB at chromosomal location 7q11.23. The transcription map of the WS critical region is not yet complete. We have isolated and characterised a 3.4 kb gene, GTF3, which occupies about 140 kb of the deleted region. Northern blot analysis showed that the gene is expressed in skeletal muscle and heart, and RT-PCR analysis showed expression in a range of adult tissues with stronger expression in foetal tissues. Part of the conceptual GTF3 protein sequence is almost identical to a recently reported slow muscle-fibre enhancer binding protein MusTRD1, and shows significant homology to the 90 amino-acid putative helix-loop-helix repeat (HLH) domains of the transcription factor TFII-I (encoded for by the gene GTF2I). These genes may be members of a new family of transcription factors containing this HLH-like repeated motif. Both GTF3 and GTF2I map within the WS deleted region, with GTF2I being positioned distal to GTF3. GTF3 is deleted in patients with classic WS, but not in patients we have studied with partial deletions of the WS critical region who have only supravalvular aortic stenosis. A feature of WS is abnormal muscle fatiguability, and we suggest that haploinsufficiency of the GTF3 gene may be the cause of this.  (+info)

Second-order belief attribution in Williams syndrome: intact or impaired? (4/254)

Second-order mental state attribution in a group of children with Williams syndrome was investigated. The children were compared to age, IQ, and language-matched groups of children with Prader-Willi syndrome or nonspecific mental retardation. Participants were given two trials of a second-order reasoning task. No significant differences between the Williams syndrome and Prader-Willi or mentally retarded groups on any of the test questions were found. Results contrast with the view that individuals with Williams syndrome have an intact theory of mind and suggest that in their attributions of second-order mental states, children with Williams syndrome perform no better than do other groups of children with mental retardation.  (+info)

Cognitive modularity and genetic disorders. (5/254)

This study challenges the use of adult neuropsychological models for explaining developmental disorders of genetic origin. When uneven cognitive profiles are found in childhood or adulthood, it is assumed that such phenotypic outcomes characterize infant starting states, and it has been claimed that modules subserving these abilities start out either intact or impaired. Findings from two experiments with infants with Williams syndrome (a phenotype selected to bolster innate modularity claims) indicate a within-syndrome double dissociation: For numerosity judgments, they do well in infancy but poorly in adulthood, whereas for language, they perform poorly in infancy but well in adulthood. The theoretical and clinical implications of these results could lead to a shift in focus for studies of genetic disorders.  (+info)

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23. (6/254)

Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes in a 2-cM region of chromosome band 7q11.23. With the exception of vascular stenoses due to deletion of the elastin gene, the various features of WBS have not yet been attributed to specific genes. Although >/=16 genes have been identified within the WBS deletion, completion of a physical map of the region has been difficult because of the large duplicated regions flanking the deletion. We present a physical map of the WBS deletion and flanking regions, based on assembly of a bacterial artificial chromosome/P1-derived artificial chromosome contig, analysis of high-throughput genome-sequence data, and long-range restriction mapping of genomic and cloned DNA by pulsed-field gel electrophoresis. Our map encompasses 3 Mb, including 1.6 Mb within the deletion. Two large duplicons, flanking the deletion, of >/=320 kb contain unique sequence elements from the internal border regions of the deletion, such as sequences from GTF2I (telomeric) and FKBP6 (centromeric). A third copy of this duplicon exists in inverted orientation distal to the telomeric flanking one. These duplicons show stronger sequence conservation with regard to each other than to the presumptive ancestral loci within the common deletion region. Sequence elements originating from beyond 7q11.23 are also present in these duplicons. Although the duplicons are not present in mice, the order of the single-copy genes in the conserved syntenic region of mouse chromosome 5 is inverted relative to the human map. A model is presented for a mechanism of WBS-deletion formation, based on the orientation of duplicons' components relative to each other and to the ancestral elements within the deletion region.  (+info)

Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I. (7/254)

Retinoblastoma protein (Rb) is an important regulator of vertebrate cell cycle and development. It functions through a direct interaction with protein factors involved in cell cycle progression and differentiation. In the present study we characterized a novel Rb-associated protein, Cream1, which bound to Rb specifically through a C-terminal region. Cream1 contained 959 amino acid residues and migrated as a protein of approx. 120 kDa on SDS/PAGE. It was a widely expressed nuclear protein with a nuclear localization signal resembling that of the large T antigen of simian virus 40. Its primary sequence was characteristic of five direct repeats that were similar to, but distinct from, those of TFII-I, a multifunctional transcription regulator. Three additional regions were also highly conserved in both proteins. Cream1 exhibited an activation activity that was attributed to its N-terminal portion when assayed in yeast. Its relationship with the muscle-enhancer-binding protein MusTRD1 further suggests a role in regulating gene expression. The structural gene, CREAM1, contained 27 exons and spanned more than 150 kb. It was located at human chromosome 7q11.23 in a region deleted for Williams' syndrome, a neurodevelopmental disease with multisystem abnormalities, implying its involvement in certain disorders. Taken together, our results suggest that Cream1 might serve as a positive transcription regulator under the control of Rb.  (+info)

A family of chromatin remodeling factors related to Williams syndrome transcription factor. (8/254)

Chromatin remodeling complexes have been implicated in the disruption or reformation of nucleosomal arrays resulting in modulation of transcription, DNA replication, and DNA repair. Here we report the isolation of WCRF, a new chromatin-remodeling complex from HeLa cells. WCRF is composed of two subunits, WCRF135, the human homolog of Drosophila ISWI, and WCRF180, a protein related to the Williams syndrome transcription factor. WCRF180 is a member of a family of proteins sharing a putative heterochromatin localization domain, a PHD finger, and a bromodomain, prevalent in factors involved in regulation of chromatin structure.  (+info)

Williams Syndrome is a rare genetic disorder caused by the deletion of a small portion of chromosome 7. This results in various developmental and medical problems, which can include:

1. Distinctive facial features such as a broad forehead, wide-set eyes, short nose, and full lips.
2. Cardiovascular disease, particularly narrowed or missing blood vessels near the heart.
3. Developmental delays and learning disabilities, although most people with Williams Syndrome have an IQ in the mild to moderate range of intellectual disability.
4. A unique pattern of strengths and weaknesses in cognitive skills, such as strong language skills but significant difficulty with visual-spatial tasks.
5. Overly friendly or sociable personality, often displaying a lack of fear or wariness around strangers.
6. Increased risk of anxiety and depression.
7. Sensitive hearing and poor depth perception.
8. Short stature in adulthood.

Williams Syndrome affects about 1 in every 10,000 people worldwide, regardless of race or ethnic background. It is not an inherited disorder, but rather a spontaneous genetic mutation.

Supravalvular Aortic Stenosis (SVAS) is a rare congenital heart defect that affects the narrowing of the aorta just above the aortic valve. This condition is caused by a genetic disorder that affects the development of the elastic fibers in the media layer of the artery.

In SVAS, the narrowing or obstruction can occur in various locations along the aorta and its major branches, leading to varying degrees of severity. The aortic valve itself is usually normal, but the narrowing can affect the blood flow from the heart to the rest of the body, causing the left ventricle to work harder and potentially leading to heart failure over time.

Symptoms of SVAS may include chest pain, shortness of breath, fatigue, and poor growth in children. The diagnosis is typically made through imaging tests such as echocardiography or cardiac catheterization. Treatment options for SVAS may include medication to manage symptoms, balloon dilation or surgical repair to widen the narrowed area, or in severe cases, heart transplantation.

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.

Human chromosome pair 7 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are identical in size, shape, and banding pattern and are therefore referred to as homologous chromosomes.

Chromosome 7 is one of the autosomal chromosomes, meaning it is not a sex chromosome (X or Y). It is composed of double-stranded DNA that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 contains several important genes associated with human health and disease, including those involved in the development of certain types of cancer, such as colon cancer and lung cancer, as well as genetic disorders such as Williams-Beuren syndrome and Charcot-Marie-Tooth disease.

Abnormalities in chromosome 7 have been linked to various genetic conditions, including deletions, duplications, translocations, and other structural changes. These abnormalities can lead to developmental delays, intellectual disabilities, physical abnormalities, and increased risk of certain types of cancer.

Elastin is a protein that provides elasticity to tissues and organs, allowing them to resume their shape after stretching or contracting. It is a major component of the extracellular matrix in many tissues, including the skin, lungs, blood vessels, and ligaments. Elastin fibers can stretch up to 1.5 times their original length and then return to their original shape due to the unique properties of this protein. The elastin molecule is made up of cross-linked chains of the protein tropoelastin, which are produced by cells called fibroblasts and then assembled into larger elastin fibers by enzymes called lysyl oxidases. Elastin has a very long half-life, with some estimates suggesting that it can remain in the body for up to 70 years or more.

"Facies" is a medical term that refers to the typical appearance of a person or part of the body, particularly the face, which may provide clues about their underlying medical condition or genetic background. A specific facies is often associated with certain syndromes or disorders. For example, a "downsyndrome facies" refers to the distinctive facial features commonly found in individuals with Down syndrome, such as a flattened nasal bridge, almond-shaped eyes, and an upward slant to the eyelids.

It's important to note that while facies can provide valuable diagnostic information, it should be used in conjunction with other clinical findings and genetic testing to make a definitive diagnosis. Additionally, facies should be described objectively and without judgment, as they are simply physical characteristics associated with certain medical conditions.

LIM kinases are a group of serine/threonine protein kinases that play important roles in various cellular processes, including actin dynamics, microtubule organization, and cell motility. They are named after their conserved N-terminal LIM domains, which are zinc-finger domains involved in protein-protein interactions.

LIM kinase 1 (LIMK1) and LIM kinase 2 (LIMK2) are the two main isoforms found in mammals. They are activated by upstream regulators such as Rho GTPases, PAK kinases, and ROCK kinases, which bind to and activate the LIM kinases in response to various cellular signals.

Once activated, LIM kinases phosphorylate and regulate the activity of cofilin, an actin-binding protein that severs and depolymerizes actin filaments. By inhibiting cofilin's activity, LIM kinases promote the stabilization and bundling of actin filaments, which is important for various cellular functions such as cell migration, cytokinesis, and neurite outgrowth.

Dysregulation of LIM kinases has been implicated in various diseases, including cancer, neurodegenerative disorders, and cardiovascular diseases. Therefore, understanding the regulation and function of LIM kinases is an important area of research with potential therapeutic implications.

Personal Construct Theory (PCT) is not a medical term per se, but rather a psychological theory developed by George Kelly in the 1950s. It is a theory of personality and psychotherapy that emphasizes an individual's unique way of construing or making sense of their experiences. According to PCT, people are active scientists who constantly test their assumptions about the world through their personal construct systems.

In medical settings, PCT may be used as a framework for understanding patients' perspectives and beliefs about their illnesses and treatments. This can help healthcare professionals tailor interventions to individual patients' needs and improve communication and collaboration between patients and healthcare providers. However, it is important to note that PCT is not a widely recognized or established medical concept, but rather a psychological theory that has been applied in various fields, including healthcare.

Nervous system malformations, also known as nervous system dysplasias or developmental anomalies, refer to structural abnormalities or defects in the development of the nervous system. These malformations can occur during fetal development and can affect various parts of the nervous system, including the brain, spinal cord, and peripheral nerves.

Nervous system malformations can result from genetic mutations, environmental factors, or a combination of both. They can range from mild to severe and may cause a wide variety of symptoms, depending on the specific type and location of the malformation. Some common examples of nervous system malformations include:

* Spina bifida: a defect in the closure of the spinal cord and surrounding bones, which can lead to neurological problems such as paralysis, bladder and bowel dysfunction, and hydrocephalus.
* Anencephaly: a severe malformation where the brain and skull do not develop properly, resulting in stillbirth or death shortly after birth.
* Chiari malformation: a structural defect in the cerebellum, the part of the brain that controls balance and coordination, which can cause headaches, neck pain, and difficulty swallowing.
* Microcephaly: a condition where the head is smaller than normal due to abnormal development of the brain, which can lead to intellectual disability and developmental delays.
* Hydrocephalus: a buildup of fluid in the brain that can cause pressure on the brain and lead to cognitive impairment, vision problems, and other neurological symptoms.

Treatment for nervous system malformations depends on the specific type and severity of the condition and may include surgery, medication, physical therapy, or a combination of these approaches.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

In medical terms, the face refers to the front part of the head that is distinguished by the presence of the eyes, nose, and mouth. It includes the bones of the skull (frontal bone, maxilla, zygoma, nasal bones, lacrimal bones, palatine bones, inferior nasal conchae, and mandible), muscles, nerves, blood vessels, skin, and other soft tissues. The face plays a crucial role in various functions such as breathing, eating, drinking, speaking, seeing, smelling, and expressing emotions. It also serves as an important identifier for individuals, allowing them to be recognized by others.

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

Cardiovascular abnormalities refer to structural or functional anomalies in the heart or blood vessels. These abnormalities can be present at birth (congenital) or acquired later in life. They can affect the heart's chambers, valves, walls, or blood vessels, leading to various complications such as heart failure, stroke, or even death if left untreated.

Examples of congenital cardiovascular abnormalities include:

1. Septal defects - holes in the walls separating the heart's chambers (atrial septal defect, ventricular septal defect)
2. Valvular stenosis or insufficiency - narrowing or leakage of the heart valves
3. Patent ductus arteriosus - a persistent opening between the aorta and pulmonary artery
4. Coarctation of the aorta - narrowing of the aorta
5. Tetralogy of Fallot - a combination of four heart defects, including ventricular septal defect, overriding aorta, pulmonary stenosis, and right ventricular hypertrophy

Examples of acquired cardiovascular abnormalities include:

1. Atherosclerosis - the buildup of plaque in the arteries, leading to narrowing or blockage
2. Cardiomyopathy - disease of the heart muscle, causing it to become enlarged, thickened, or stiffened
3. Hypertension - high blood pressure, which can damage the heart and blood vessels over time
4. Myocardial infarction (heart attack) - damage to the heart muscle due to blocked blood supply
5. Infective endocarditis - infection of the inner lining of the heart chambers and valves

These abnormalities can be diagnosed through various tests, such as echocardiography, electrocardiogram (ECG), stress testing, cardiac catheterization, or magnetic resonance imaging (MRI). Treatment options depend on the type and severity of the abnormality and may include medications, medical procedures, or surgery.

"History, 19th Century" is not a medical term or concept. It refers to the historical events, developments, and figures related to the 1800s in various fields, including politics, culture, science, and technology. However, if you are looking for medical advancements during the 19th century, here's a brief overview:

The 19th century was a period of significant progress in medicine, with numerous discoveries and innovations that shaped modern medical practices. Some notable developments include:

1. Edward Jenner's smallpox vaccine (1796): Although not strictly within the 19th century, Jenner's discovery laid the foundation for vaccination as a preventive measure against infectious diseases.
2. Germ theory of disease: The work of Louis Pasteur, Robert Koch, and others established that many diseases were caused by microorganisms, leading to the development of antiseptic practices and vaccines.
3. Anesthesia: In 1842, Crawford Long first used ether as an anesthetic during surgery, followed by the introduction of chloroform in 1847 by James Simpson.
4. Antisepsis and asepsis: Joseph Lister introduced antiseptic practices in surgery, significantly reducing postoperative infections. Later, the concept of asepsis (sterilization) was developed to prevent contamination during surgical procedures.
5. Microbiology: The development of techniques for culturing and staining bacteria allowed for better understanding and identification of pathogens.
6. Physiology: Claude Bernard's work on the regulation of internal body functions, or homeostasis, contributed significantly to our understanding of human physiology.
7. Neurology: Jean-Martin Charcot made significant contributions to the study of neurological disorders, including multiple sclerosis and Parkinson's disease.
8. Psychiatry: Sigmund Freud developed psychoanalysis, a new approach to understanding mental illnesses.
9. Public health: The 19th century saw the establishment of public health organizations and initiatives aimed at improving sanitation, water quality, and vaccination programs.
10. Medical education reforms: The Flexner Report in 1910 led to significant improvements in medical education standards and practices.

Perceptual disorders are conditions that affect the way a person perceives or interprets sensory information from their environment. These disorders can involve any of the senses, including sight, sound, touch, taste, and smell. They can cause a person to have difficulty recognizing, interpreting, or responding appropriately to sensory stimuli.

Perceptual disorders can result from damage to the brain or nervous system, such as from a head injury, stroke, or degenerative neurological condition. They can also be caused by certain mental health conditions, such as schizophrenia or severe depression.

Symptoms of perceptual disorders may include:

* Misinterpretations of sensory information, such as seeing things that are not there or hearing voices that are not present
* Difficulty recognizing familiar objects or people
* Problems with depth perception or spatial awareness
* Difficulty judging the size, shape, or distance of objects
* Trouble distinguishing between similar sounds or colors
* Impaired sense of smell or taste

Perceptual disorders can have a significant impact on a person's daily life and functioning. Treatment may involve medication, therapy, or rehabilitation to help the person better cope with their symptoms and improve their ability to interact with their environment.

Creativity is not a term that is typically defined in a medical context, as it is more commonly associated with the arts, humanities, and certain fields of psychology. However, creativity can be generally described as the ability to generate ideas, solutions, or expressions that are both original and valuable. It involves the use of imagination, innovation, and inventiveness, and often requires the ability to think outside of the box and make connections between seemingly unrelated concepts or ideas.

In a medical context, creativity may be discussed in relation to its potential impact on health outcomes, such as its role in promoting mental well-being, reducing stress, and enhancing cognitive function. Some research has suggested that engaging in creative activities can have positive effects on physical health as well, such as by boosting the immune system and reducing the risk of chronic diseases.

It's worth noting that while creativity is often associated with artistic or intellectual pursuits, it can manifest in many different forms and contexts, from problem-solving and innovation in the workplace to everyday decision-making and social interactions.

I must clarify that I cannot provide a "medical definition" of intelligence, as intelligence is not a concept that is typically defined within the field of medicine. Intelligence is a term used to describe the ability to learn, understand, and make judgments or decisions based on reason, experience, and information. It is often measured through various cognitive abilities such as problem-solving, critical thinking, creativity, and knowledge acquisition.

The concept of intelligence is studied in many fields, including psychology, neuroscience, and education. In medicine, healthcare professionals may assess a person's cognitive abilities to better understand their health status or develop treatment plans. However, there is no specific "medical definition" for intelligence. Instead, it is a multifaceted concept that can be influenced by various genetic, environmental, and experiential factors.

'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.

In situ hybridization, fluorescence (FISH) is a type of molecular cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes through the use of fluorescent probes. This technique allows for the direct visualization of genetic material at a cellular level, making it possible to identify chromosomal abnormalities such as deletions, duplications, translocations, and other rearrangements.

The process involves denaturing the DNA in the sample to separate the double-stranded molecules into single strands, then adding fluorescently labeled probes that are complementary to the target DNA sequence. The probe hybridizes to the complementary sequence in the sample, and the location of the probe is detected by fluorescence microscopy.

FISH has a wide range of applications in both clinical and research settings, including prenatal diagnosis, cancer diagnosis and monitoring, and the study of gene expression and regulation. It is a powerful tool for identifying genetic abnormalities and understanding their role in human disease.

I believe there might be a bit of confusion in your question. A "history" in medical terms usually refers to the detailed account of a patient's symptoms, illnesses, and treatments received, which is used by healthcare professionals to understand their health status and provide appropriate care. It is not typically associated with a specific century like the 17th century.

If you are asking for information about the medical practices or significant developments in the field of medicine during the 17th century, I would be happy to provide some insight into that. The 17th century was a time of great advancement in medical knowledge and practice, with several key figures and events shaping the course of medical history.

Some notable developments in medicine during the 17th century include:

1. William Harvey's discovery of the circulation of blood (1628): English physician William Harvey published his groundbreaking work "De Motu Cordis" (On the Motion of the Heart and Blood), which described the circulatory system and the role of the heart in pumping blood throughout the body. This discovery fundamentally changed our understanding of human anatomy and physiology.
2. The development of the microscope (1600s): The invention of the microscope allowed scientists to observe structures that were previously invisible to the naked eye, such as cells, bacteria, and other microorganisms. This technology opened up new avenues of research in anatomy, physiology, and pathology, paving the way for modern medical science.
3. The establishment of the Royal Society (1660): The Royal Society, a prominent scientific organization in the UK, was founded during this century to promote scientific inquiry and share knowledge among its members. Many notable scientists and physicians, including Robert Hooke and Christopher Wren, were part of the society and contributed significantly to the advancement of medical science.
4. The Smallpox Vaccination (1796): Although this occurred near the end of the 18th century, the groundwork for Edward Jenner's smallpox vaccine was laid during the 17th century. Smallpox was a significant public health issue during this time, and Jenner's development of an effective vaccine marked a major milestone in the history of medicine and public health.
5. The work of Sylvius de le Boe (1614-1672): A Dutch physician and scientist, Sylvius de le Boe made significant contributions to our understanding of human anatomy and physiology. He was the first to describe the circulation of blood in the lungs and identified the role of the liver in metabolism.

These are just a few examples of the many advancements that took place during the 17th century, shaping the course of medical history and laying the foundation for modern medicine.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

A forehead, in medical terms, refers to the portion of the human skull that lies immediately above the eyes and serves as an attachment site for the frontal bone. It is a common area for the examination of various clinical signs, such as assessing the level of consciousness (by checking if the patient's eyebrows or eyelids twitch in response to a light touch) or looking for signs of increased intracranial pressure (such as bulging fontanelles in infants). Additionally, the forehead is often used as a site for non-invasive procedures like Botox injections.

A "cheek" is the fleshy, muscular area of the face that forms the side of the face below the eye and above the jaw. It contains the buccinator muscle, which helps with chewing by moving food to the back teeth for grinding and also assists in speaking and forming facial expressions. The cheek also contains several sensory receptors that allow us to perceive touch, temperature, and pain in this area of the face. Additionally, there is a mucous membrane lining inside the mouth cavity called the buccal mucosa which covers the inner surface of the cheek.

"Diagnosing Williams Syndrome". Guide to Williams Syndrome. Williams Syndrome Association. Archived from the original on 2011-12 ... including the Canadian Association for Williams Syndrome and the Williams Syndrome Registry. Williams syndrome has historically ... The syndrome was first described in 1961 by New Zealander John C. P. Williams. Williams syndrome affects between one in 20,000 ... Williams syndrome (WS), also Williams-Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial ...
Williams syndrome is a rare disorder that can lead to problems with development. ... Williams syndrome is a rare disorder that can lead to problems with development. ... Williams-Beuren syndrome; WBS; Beuren syndrome; 7q11.23 deletion syndrome; Elfin facies syndrome ... More information and support for people with Williams syndrome and their families can be found at:. Williams Syndrome ...
Williams syndrome (WS) is a rare genetic condition. The clinical manifestations include a distinct facial appearance, ... Originally described independently by Williams and Beuren in 1961, ... encoded search term (Williams Syndrome) and Williams Syndrome What to Read Next on Medscape ... They generated pooled prevalence estimates of anxiety disorders for Williams syndrome based upon 16 papers on Williams syndrome ...
Open because of an autoimmune disorder called Sjogrens syndrome. An autoimmune disorder is a condition in which your bodys ... Tennis star Venus Williams has announced shes dropping out of the U.S. ... Why Sjogrens Syndrome Caused Venus Williams to Quit US Open. News By Live Science Staff ... How Williams and other patients with Sjogrens syndrome can perform as professional athletes, Lozada said, depends on how well ...
And the process is the same, no matter who we are, and whether or not we have Williams syndrome. It begins with a basic ... And the process is the same, no matter who we are, and whether or not we have Williams syndrome. It begins with a basic ... Your input is invaluable as we gear up for the WSAs 2024 Williams Syndrome Convention! We aim to include everything you want ...
The cognitive profiles of both individuals with Williams Syndrome (WS) and individuals with development coordination disorder ( ...
You may donate here electronically or Text GIVEWSA to 41444 or mail a check, payable to Williams Syndrome Association, to 243 ...
Complementary to the Williams Syndrome Associations efforts to build a nationwide registry of patient information, Penn is ... Penn will be collecting important biological, clinical, and genomic data that can be used to study Williams Syndrome. More ... building a robust biobank with biological samples from Williams Syndrome patients and their families. ...
Louis Childrens Hospital have expertise in diagnosing Williams syndrome. In addition to a physical examination to look for the ... typical features of the syndrome, they will investigate your childs blood vessels through an echocardiogram and EKG. ... Physicians at the Williams Syndrome Center at St. ... Williams Syndrome Center * Why Choose the Williams Syndrome ... Physicians at the Williams Syndrome Center at St. Louis Childrens Hospital have expertise in diagnosing Williams syndrome. In ...
Williams Syndrome Foundation, Box 103, Charter House, Lord Montgomery Way, Portsmouth, PO1 2SN. ...
Williams Syndrome Family of Hope, Inc.. The Williams Syndrome Family of Hope, Inc. is a grassroots not for profit organization ... Williams Syndrome Family of Hope, Inc. has been created to enhance the lives of individuals living with Williams syndrome. We ... of Williams Syndrome Family of Hope is in loving memory of the children who have died from complications of Williams syndrome ... Our mission is to provide support, resources, education and financial assistance to those affected by Williams syndrome. ...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
... known as Williams Syndrome.. Williams Syndrome is a rare genetic disorder that occurs in one in 10,000 - 20,000 births in the U ... She has Williams Syndrome. A lot of people dont know that. She was the face of everything," Borrego said. ... Rare genetic disorder Williams Syndrome can mimic autism; advocates say its often diagnosed late. Local family explains what ... During Williams Syndrome Awareness Month in May, she wants to educate the public about people like Daisy. ...
These multiple hernias suggest that patients with Williams syndrome may have some connective tissue disorder which makes them ... This 49-year-old woman with Williams syndrome, cognitive impairment and aortic stenosis presented to physicians with right- ... Williams syndrome is rare genetic disorder resulting in neurodevelopmental problems. Hernias of the foramen of Morgagni are ... Williams syndrome is caused by a deletion in the 7q11.23 region which includes at least 17 genes, resulting in a ...
Neil Williams. Click to view the search field Click to view the navigation. ... Nothing doesnt go in here, imposter syndrome, choosing to work in pre-internet organisations. ... Tag: imposter syndrome. Week notes: 1-12 November 2023. November 12, 2023 ...
a] beautiful young lady who happens to have Williams syndrome ... that she lives and deals with courageously every day.. Taken ... Williams syndrome can affect the student cognitively, socially and behaviourally, while motor difficulties may also present. ... Despite the tendency for the student with Williams syndrome to have an overtly sociable nature, they can have difficulties ... Characteristics of the syndrome are distinctive elfin features, good auditory skills, love of music, an outgoing social ...
The Williams syndrome theory. The rare condition Williams Beurens Syndrome was listed as of interest to scientists studying ... The syndrome is characterized by a lack of elastin in the body which gives a certain look to the features. ... Further reading after quick Internet searches revealed that people with this syndrome are exceptionally kind, highly verbally ... The syndrome is described as a combination of about 26 missing genes. ...
To provide support and information to people with Williams Syndrome (WS), their families, guardians and care providers. To ...
A parent or guardian of a person with Williams Syndrome. * An adult with Williams Syndrome, or * A person who can demonstrate ... The service aims to improve the lives of individuals with Williams Syndrome and their families, to locate individuals with the ... syndrome and their families and to disseminate medical, educational and assistance group information. ...
Williams syndrome. Autism. Eye-tracking. Social cognition. Eye Movements. Autism Social aspects. Williams Syndrome. Cognitive ... The genetic disorder Williams syndrome (WS) is associated with a propulsion towards social stimuli and interactions with people ... Riby D & Hancock PJB (2008) Viewing it differently: social scene perception in Williams syndrome and Autism. Neuropsychologia, ...
Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader - Willi syndrome * Marianne ... Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader - Willi syndrome. Food & ... Keywords: Diet, carotenoids, omega-3 fatty acids, obesity, intellectual disability, autonomy, Williams syndrome, Down syndrome ... Down syndrome (DS), and Williams syndrome (WS), and investigate the association with body mass index (BMI). To explore food- ...
Neural correlates of abstract social cognition in Williams syndrome and 7q11.23 Duplication syndrome. Thursday, September 14, ... 25 genes at chromosomal location 7q11.23 causes Williams syndrome (WS) or 7q11.23 Duplication syndrome (DUP7), respectively. ...
Understanding Strategic Information Use During Emotional Expression Judgments in Williams Syndrome. Louise Ewing, Emily K. ... The diagnostic visual information is also notably less interlinked in Williams syndrome, consistent with reports of diminished ... The diagnostic visual information is also notably less interlinked in Williams syndrome, consistent with reports of diminished ... The diagnostic visual information is also notably less interlinked in Williams syndrome, consistent with reports of diminished ...
... a 22 year old Dallas woman with Williams Syndrome. The disorder ... One of the trademark features of Williams Syndrome is an ... Inspiring Young Woman Opens Up About Living With Williams Syndrome and Her Need to Hug Everyone. *. January 21, 2020. ... Alexandra is diagnosed with Williams syndrome, a condition known to cause a friendly personality. She has an unconditional love ... She also explained that people with Williams Syndrome are very sensitive and sometimes have trouble making friends. ...
... the relationship between quantitative gene expression and intelligence in a cohort of 65 patients with Williams Syndrome (WS), ... the relationship between quantitative gene expression and intelligence in a cohort of 65 patients with Williams Syndrome (WS), ...
SALVADOR, Larissa de Souza et al. Investigation of Cognitive Domains in Williams Syndromes Patients Using Wechslers Scales. ... Williams Syndrome (WS) is a disease of genetic etiology caused by micro-deletions at the 7q11.23 region. WSs patients may ...
What is williams syndrome and what are the features common to children born with williams syndrome. Is it treatable? ... Williams Syndrome. What is williams syndrome and what are the features common to children born with williams syndrome. Is it ... The syndrome almost affects every 1 in 20,000 newborns.. What is causes Williams Syndrome?. Williams Syndrome is a condition ... What is Williams Syndrome?. Williams Syndrome is a development disorder. This condition affects almost every part of the human ...
What causes Williams Syndrome? Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7. The ... They are both gifts of Williams syndrome. FAQs about Williams SyndromeInsights to commonly asked questions. ... Is it my fault that my child has Williams Syndrome? No, nothing you have done or not done has caused your child to have WS, ... Is there a cure for Williams Syndrome? No, there is no cure for WS; it is a lifelong condition but a number of the conditions ...
... printable. Download, print and start playing. You can add your own words to customize or ... Williams Syndrome is a _________________ disorder. Rare: Williams Syndrome is _____ Children: This syndrome is most commonly ... Williams Syndrome Crossword Puzzle. Williams Syndrome crossword puzzle printable. Download, print and start playing. You can ... Williams Syndrome effects many parts of the human ________ Fifty: More than ________ percent of children with Williams Syndrome ...

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