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Williams Syndrome
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed, particularly challenges with visual spatial tasks such as drawing. Verbal skills are relatively unaffected. Many people have an outgoing personality, a happy disposition, an openness to engaging with other people, increased empathy and decreased aggression. Medical issues with teeth, heart problems (especially supravalvular aortic stenosis), and periods of hypercalcemia, high blood calcium are common. Williams syndrome is caused by a genetic abnormality, specifically a Deletion (genetics), deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, i ...
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Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ...
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Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ...
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MedlinePlus
MedlinePlus is an online information service produced by the United States National Library of Medicine. The service provides curated consumer health information in English and Spanish with select content in additional languages. The site brings together information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), other U.S. government agencies, and health-related organizations. There is also a site optimized for display on mobile devices, in both English and Spanish. In 2015, about 400 million people from around the world used MedlinePlus. The service is funded by the NLM and is free to users. MedlinePlus provides encyclopedic information on health and drug issues, and provides a directory of medical services. MedlinePlus Connect links patients or providers in electronic health record (EHR) systems to related MedlinePlus information on conditions or medications. PubMed Health was another NLM site that offered consumer health information, in ...
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Nasal Bridge
The nasal bridge is the upper part of the nose, where the nasal bones and surrounding soft tissues provide structural support. While commonly discussed in human anatomy, nasal bridges exist in various forms across many vertebrates, particularly mammals. The shape, size, and function of the nasal bridge are influenced by evolutionary adaptations, playing a key role in Respiration (physiology), respiration, sense of smell, and thermoregulation. Anatomy Humans In humans, the nasal bridge is the elevated region of the human nose, nose between the eyes. It is primarily formed by the two small, oblong nasal bones, which meet at the midline to form the internasal suture. The nasal bridge extends from the nasal root, where the nose meets the forehead, to the lower edge of the nasal bones. Laterally, it reaches the inner canthi, the medial corners of the eyes, creating a saddle-shaped contour across the upper nose. The height and shape of the nasal bridge vary among individuals and ...
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Philtrum
The philtrum (, from Ancient Greek , lit. 'love charm') or medial cleft is a vertical indentation in the middle area of the upper lip, common to therian mammals, extending in humans from the nasal septum to the tubercle of the upper lip. Together with a glandular rhinarium and slit-like nostrils, it is believed to constitute the primitive condition for at least therian mammals. Monotremes lack a philtrum, though this could be due to the specialised, beak-like jaws in living species. Function In most mammals, the philtrum is a narrow groove that may carry dissolved odorants from the rhinarium or nose pad to the vomeronasal organ via ducts inside the mouth. For humans and most primates, the philtrum survives only as a vestigial medial depression between the nose and upper lip. The human philtrum, bordered by a pair of ridges known as the ''philtral columns'', is also known as the ''infranasal depression'', but has no apparent function. That may be because most higher pri ...
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Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves, and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but medical diagnosis, diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the mus ...
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Failure To Thrive
Failure to thrive (FTT), also known as weight faltering or faltering growth, indicates insufficient weight gain or absence of appropriate physical growth in children. FTT is usually defined in terms of weight, and can be evaluated either by a low weight for the child's age, or by a low rate of increase in the weight. The term "failure to thrive" has been used in different ways, as no single objective standard or universally accepted definition exists for when to diagnose FTT. One definition describes FTT as a fall in one or more weight centile spaces on a World Health Organization (WHO) growth chart depending on birth weight or when weight is below the 2nd percentile of weight for age irrespective of birth weight. Another definition of FTT is a weight for age that is consistently below the fifth percentile or weight for age that falls by at least two major percentile lines on a growth chart. While weight loss after birth is normal and most babies return to their birth weight by t ...
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Williams SyndromeCCBY
Williams may refer to: People * Williams (surname), a surname English in origin, but popular in Wales, 3rd most common in the United Kingdom * Williams Nwaneri, American football player Places Astronomy * Williams (lunar crater) * Williams (Martian crater) Australia * Williams, Western Australia * Shire of Williams * Williams River (other) Canada * Williams Cone, a volcanic cone in British Columbia United States * Williams Gap, a mountain pass in Nebraska * Williams River (other) Communities *Williams, Arizona *Williams, California, in Colusa County * Williams, Adams County, Indiana * Williams, Lawrence County, Indiana *Williams, Iowa *Williams, Minnesota * Williams, Nebraska * Williams, Oregon *Williams, South Carolina *Williams County, North Dakota *Williams County, Ohio *Williams Township, Michigan *Williams Township, Minnesota *Williams Township, Dauphin County, Pennsylvania *Williams Township, Northampton County, Pennsylvania *Williams Bay, Wisco ...
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Life Expectancy
Human life expectancy is a statistical measure of the estimate of the average remaining years of life at a given age. The most commonly used measure is ''life expectancy at birth'' (LEB, or in demographic notation ''e''0, where ''e''x denotes the average life remaining at age ''x''). This can be defined in two ways. ''Cohort'' LEB is the mean length of life of a birth Cohort (statistics), cohort (in this case, all individuals born in a given year) and can be computed only for cohorts born so long ago that all their members have died. ''Period'' LEB is the mean length of life of a hypothetical cohort assumed to be exposed, from birth through death, to the mortality rates observed at a given year. National LEB figures reported by national agencies and international organizations for human populations are estimates of ''period'' LEB. Human remains from the early Bronze Age indicate an LEB of 24. In 2019, world LEB was 73.3. A combination of high infant mortality and d ...
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New York Times
''The New York Times'' (''NYT'') is an American daily newspaper based in New York City. ''The New York Times'' covers domestic, national, and international news, and publishes opinion pieces, investigative reports, and reviews. As one of the longest-running newspapers in the United States, the ''Times'' serves as one of the country's Newspaper of record, newspapers of record. , ''The New York Times'' had 9.13 million total and 8.83 million online subscribers, both by significant margins the List of newspapers in the United States, highest numbers for any newspaper in the United States; the total also included 296,330 print subscribers, making the ''Times'' the second-largest newspaper by print circulation in the United States, following ''The Wall Street Journal'', also based in New York City. ''The New York Times'' is published by the New York Times Company; since 1896, the company has been chaired by the Ochs-Sulzberger family, whose current chairman and the paper's publ ...
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John C
John is a common English name and surname: * John (given name) * John (surname) John may also refer to: New Testament Works * Gospel of John, a title often shortened to John * First Epistle of John, often shortened to 1 John * Second Epistle of John, often shortened to 2 John * Third Epistle of John, often shortened to 3 John People * John the Baptist (died ), regarded as a prophet and the forerunner of Jesus Christ * John the Apostle (died ), one of the twelve apostles of Jesus Christ * John the Evangelist, assigned author of the Fourth Gospel, once identified with the Apostle * John of Patmos, also known as John the Divine or John the Revelator, the author of the Book of Revelation, once identified with the Apostle * John the Presbyter, a figure either identified with or distinguished from the Apostle, the Evangelist and John of Patmos Other people with the given name Religious figures * John, father of Andrew the Apostle and Saint Peter * Pope John ( ...
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Therapy
A therapy or medical treatment is the attempted remediation of a health problem, usually following a medical diagnosis. Both words, ''treatment'' and ''therapy'', are often abbreviated tx, Tx, or Tx. As a rule, each therapy has indications and contraindications. There are many different types of therapy. Not all therapies are effective. Many therapies can produce unwanted adverse effects. ''Treatment'' and ''therapy'' are often synonymous, especially in the usage of health professionals. However, in the context of mental health, the term ''therapy'' may refer specifically to psychotherapy. Semantic field The words ''care'', ''therapy'', ''treatment'', and ''intervention'' overlap in a semantic field, and thus they can be synonymous depending on context. Moving rightward through that order, the connotative level of holism decreases and the level of specificity (to concrete instances) increases. Thus, in health-care contexts (where its senses are always nonc ...
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