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Potocki–Shaffer Syndrome
Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, is a rare contiguous gene syndrome that results from the microdeletion of section 11.2 on the short arm of chromosome 11 (11p11.2). The syndrome has its name from Dr. Lorraine (Lori) Potocki and Dr. Lisa Shaffer who discovered the deletion on the 11th chromosome and studied the impacts. The deletion of this combination of genes results in several distinctive congenital features, occasional defects in the heart, kidneys, and urinary tract. The disorder is associated with an enlarged parietal foramina which can cause openings in the two bones that form the top and sides of the skull. These abnormal openings form extra "soft spots" on the head, in addition to the two that newborns normally have, and unlike the usual newborn soft spots, the enlarged parietal foramina remain open throughout life. Other signs can include multiple mostly noncancerous benign bone tumours called o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Contiguous Gene Syndrome
A contiguous gene syndrome (CGS), also known as a contiguous gene deletion syndrome, is a clinical phenotype caused by a chromosomal abnormality, such as a deletion or duplication that removes several genes lying in close proximity to one another on the chromosome. The combined phenotype of the patient is a combination of what is seen when any individual has disease-causing mutations in any of the individual genes involved in the deletion. While it can be caused by deleted material on a chromosome, it is not, strictly speaking, the same entity as a segmental aneuploidy syndrome. A segmental aneuploidy syndrome is a subtype of CGS that regularly recur, usually due to non-allelic homologous recombination between low copy repeats in the region. Most CGS involve the X chromosome and affect male individuals. One of the earliest and most famous examples of a CGS involves a male patient with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
INSERM
The (Inserm, ) is the French National Institute of Health and Medical Research. History and organisation Inserm was created in 1964 as a successor to the French National Institute of Health. Inserm is the only public research institution solely focused on human health and medical research in France. It is a public institution with a scientific and technical vocation under the dual auspices of the Ministry of Health and the Ministry of Research. Similarly to the US National Institutes of Health, Inserm conducts fundamental and translational research projects through 339 research units, run by around 13,000 scientists, including 5,100 permanent research staff members and 5,100 staff members co-affiliated with university hospitals and medicine faculties. Inserm's laboratories and research units are located all over France, mainly in the largest cities. Eighty percent of Inserm research units are embedded in research hospitals of French universities. In 1997, Inserm founded ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Parent
A parent is either the progenitor of a child or, in humans, it can refer to a caregiver or legal guardian, generally called an adoptive parent or step-parent. Parents who are progenitors are First-degree relative, first-degree relatives and have 50% genetic meet. A female can also become a parent through surrogacy. Some parents may be Adoption, adoptive parents, who nurture and raise an offspring, but are not related to the child. Orphans without adoptive parents can be raised by their grandparents or other family members. A parent can also be elaborated as an ancestor removed one generation. With recent medical advances, it is possible to have more than two biological parents. Examples of Third-party reproduction, third biological parents include instances involving surrogacy or a third person who has provided DNA samples during an assisted reproductive procedure that has altered the recipients' genetic material. The most common types of parents are mothers, fathers, step-paren ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 11 (human)
Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. The shorter arm (p arm) is termed 11p while the longer arm (q arm) is 11q. At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome. More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single-gene and multi-gene clusters along the chromosome. Gene Number of genes The following are some of the gene count estimates of human chromosome 11. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urinary Tract
The human urinary system, also known as the urinary tract or renal system, consists of the kidneys, ureters, bladder, and the urethra. The purpose of the urinary system is to eliminate waste from the body, regulate blood volume and blood pressure, control levels of electrolytes and metabolites, and regulate blood pH. The urinary tract is the body's drainage system for the eventual removal of urine. The kidneys have an extensive blood supply via the renal arteries which leave the kidneys via the renal vein. Each kidney consists of functional units called nephrons. Following filtration of blood and further processing, waste (in the form of urine) exits the kidney via the ureters, tubes made of smooth muscle fibres that propel urine towards the urinary bladder, where it is stored and subsequently expelled through the urethra during urination. The female and male urinary system are very similar, differing only in the length of the urethra. 8002,000 milliliters (mL) of urine are n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney
In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organ (anatomy), organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal artery, renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the urinary bladder, bladder. The kidney participates in the control of the volume of various body fluids, fluid osmolality, Acid-base homeostasis, acid-base balance, various electrolyte concentrations, and removal of toxins. Filtration occurs in the glomerulus (kidney), glomerulus: one-fifth of the blood volume that enters the kidneys is filtered. Examples of substances reabsorbed are solute-free water, sodium, bicarbonate, glucose, and amino acids. Examples of substances secreted are hy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart
The heart is a muscular Organ (biology), organ found in humans and other animals. This organ pumps blood through the blood vessels. The heart and blood vessels together make the circulatory system. The pumped blood carries oxygen and nutrients to the tissue, while carrying metabolic waste such as carbon dioxide to the lungs. In humans, the heart is approximately the size of a closed fist and is located between the lungs, in the middle compartment of the thorax, chest, called the mediastinum. In humans, the heart is divided into four chambers: upper left and right Atrium (heart), atria and lower left and right Ventricle (heart), ventricles. Commonly, the right atrium and ventricle are referred together as the right heart and their left counterparts as the left heart. In a healthy heart, blood flows one way through the heart due to heart valves, which prevent cardiac regurgitation, backflow. The heart is enclosed in a protective sac, the pericardium, which also contains a sma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vision Problems
Visual or vision impairment (VI or VIP) is the partial or total inability of visual perception. In the absence of treatment such as corrective eyewear, assistive devices, and medical treatment, visual impairment may cause the individual difficulties with normal daily tasks, including reading and walking. The terms ''low vision'' and ''blindness'' are often used for levels of impairment which are difficult or impossible to correct and significantly impact daily life. In addition to the various permanent conditions, fleeting temporary vision impairment, amaurosis fugax, may occur, and may indicate serious medical problems. The most common causes of visual impairment globally are uncorrected refractive errors (43%), cataracts (33%), and glaucoma (2%). Refractive errors include near-sightedness, far-sightedness, presbyopia, and astigmatism (eye), astigmatism. Cataracts are the most common cause of blindness. Other disorders that may cause visual problems include age-related macular ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Down-turned Mouth
A frown (also known as a scowl) is a facial expression in which the eyebrows are brought together, and the forehead is wrinkled, usually indicating displeasure, sadness or worry, or less often confusion or Attentional control, concentration. The appearance of a frown varies by culture. An alternative usage in North America is thought of as an expression of the mouth. In those cases when used iconically, as with an emoticon, it is entirely presented by the curve of the lips forming a down-open curve. The mouth expression is also commonly referred to in the colloquial English phrase, especially in the United States, to "turn that frown upside down" which indicates changing from sad to happy. Description Charles Darwin described the primary act of frowning as the furrowing of the brow which leads to a rise in the upper lip and a down-turning of the corners of the mouth. While the appearance of a frown varies from culture to culture, there appears to be some degree of universality t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brachycephaly
Brachycephaly (derived from the Ancient Greek '' βραχύς'', 'short' and '' κεφαλή'', 'head') is the shape of a skull shorter than average in its species. It is perceived as a cosmetically desirable trait in some domesticated dog and cat breeds, notably the pug and Persian, and can be normal or abnormal in other animal species. In humans, brachycephaly can appear both pathologically and non-pathologically as a result of normal human variation. It is particularly common in Mongolians and the Andamanese. In anthropology, human populations have been characterized as either dolichocephalic (long-headed), mesocephalic (moderate-headed), or brachycephalic (short-headed). The usefulness of the cephalic index was questioned by Giuseppe Sergi, who argued that cranial morphology provided a better means to model racial ancestry. When pathological, it is known as flat head syndrome, and it results from premature fusion of the coronal sutures, or from external deformation. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Social Skills
A social skill is any competence facilitating interaction and communication with others where social rules and relations are created, communicated, and changed in verbal and nonverbal ways. The process of learning these skills is called socialization. Lack of such skills can cause ''social awkwardness''. Interpersonal skills are actions used to effectively interact with others. Interpersonal skills relate to categories of dominance vs. submission, love vs. hate, affiliation vs. aggression, and control vs. autonomy (Leary, 1957). Positive interpersonal skills include entertainment, persuasion, active listening, showing care, delegation, hospitality and stewardship, among others. Social psychology, an academic discipline focused on research relating to social functioning, studies how interpersonal skills are learned through societal-based changes in attitude, thinking, and behavior. Enumeration and categorization Social skills are the tools that enable people to communicate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
