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Pallister–Killian Syndrome
The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of virtually any other chromosome and, depending on the genetic material they carry, can cause various genetic disorders and neoplasms. The sSMC in PKS consists of multiple copies of the short (i.e. "p") arm of chromosome 12. Consequently, the multiple copies of the genetic material in the sSMC plus the two copies of this genetic material in the two normal chromosome 12's are overexpressed and thereby cause the syndrome. Due to a form of genetic mosaicism, however, individuals with PKS differ in the tissue distributions of their sSMC and therefore show different syndrome-related birth defects and disease severities. For example, individuals with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics 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 specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Calcifications
Calcification is the accumulation of calcium salts in a body tissue. It normally occurs in the formation of bone, but calcium can be deposited abnormally in soft tissue,Miller, J. D. Cardiovascular calcification: Orbicular origins. ''Nature Materials'' 12, 476-478 (2013). causing it to harden. Calcifications may be classified on whether there is mineral balance or not, and the location of the calcification. Calcification may also refer to the processes of normal mineral deposition in biological systems, such as the formation of stromatolites or mollusc shells (see Biomineralization). Signs and symptoms Calcification can manifest itself in many ways in the body depending on the location. In the pulpal structure of a tooth, calcification often presents asymptomatically, and is diagnosed as an incidental finding during radiographic interpretation. Individual teeth with calcified pulp will typically respond negatively to vitality testing; teeth with calcified pulp often lack sen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Philtrum
The philtrum ( la, philtrum from Ancient Greek ''phíltron,'' 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 ridges, is also known as the ''infranasal depression'', but has no apparent function. That may be because most higher primates rely more on vision ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertelorism
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased but the distances between the outer eye corners and the pupils remain unchanged.Michael L. Bentz: ''Pediatric Plastic Surgery''; Chapter 9 Hypertelorism by Renato Ocampo, Jr., MD/ John A. Persing, MD Hypertelorism is a symptom in a variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys–Dietz syndrome. Hypertelorism can also be seen in Apert syndrome, Autism spectrum disorder, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome, Crouzon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Temple (anatomy)
The temple is a latch where four skull bones fuse: the frontal, parietal, temporal, and sphenoid. It is located on the side of the head behind the eye between the forehead and the ear. The temporal muscle covers this area and is used during mastication. Cladists classify land vertebrates based on the presence of an upper hole, a lower hole, both, or neither in the cover of dermal bone that formerly covered the temporalis muscle, whose origin is the temple and whose insertion is the jaw. The brain has a lobe called the temporal lobe. Etymology The word "templar" as used in anatomy has a separate etymology from the other meaning of word ''temple'', meaning "place of worship". Both come from Latin, but the word for the place of worship comes from ', whereas the word for the part of the head comes from Vulgar Latin *', modified from ', plural form ("both temples") of ', a word that meant both "time" and the part of the head. Due to the common source with the word for time, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skull Bossing
Skull bossing is a descriptive term in medical physical examination indicating a protuberance of the skull, most often in the frontal bones of the forehead ("frontal bossing"). Although prominence of the skull bones may be normal, skull bossing may be associated with certain medical conditions, including nutritional, metabolic, hormonal, and hematologic disorders. Frontal bossing Frontal bossing is the development of an unusually pronounced forehead which may also be associated with a heavier than normal brow ridge. It is caused by enlargement of the frontal bone, often in conjunction with abnormal enlargement of other facial bones, skull, mandible, and bones of the hands and feet. Frontal bossing may be seen in a few rare medical syndromes such as acromegaly – a chronic medical disorder in which the anterior pituitary gland produces excess growth hormone (GH). Frontal bossing may also occur in diseases resulting in chronic anemia, where there is increased hematopoiesis and e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Supernumerary Nipples
A supernumerary nipple is an additional instance of nipple occurring in mammals, including humans. They are often mistaken for moles. Studies variously report the prevalence of supernumerary nipples as approximately 1 in 18 and 1 in 40. https://link.springer.com/article/10.1007/s004310050944 Supernumerary nipples: prevalence, size, sex and side predilection – a prospective clinical study, H. Schmidt, European Journal of Pediatrics volume 157, pages 821–823 (1998). https://jamanetwork.com/journals/jamapediatrics/article-abstract/511138 Occurrence of Supernumerary Nipples in Newborns Francis Mimouni, MD; Paul Merlob, MD; Salomon H. Reisner, MB, ChB, Am J Dis Child. 1983;137(10):952-953. The nipples appear along the two vertical " milk lines", which start in the armpit on each side, run down through the typical nipples and end at the groin. They are classified into eight levels of completeness from a simple patch of hair to a milk-bearing breast in miniature. Types ''Pol ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diaphragmatic Hernia
Diaphragmatic hernia is a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity. Treatment is usually surgical. Types * Congenital diaphragmatic hernia ** Morgagni's hernia ** Bochdalek hernia * Hiatal hernia * Iatrogenic diaphragmatic hernia * Traumatic diaphragmatic hernia Signs and symptoms A scaphoid abdomen (sucked inwards) may be the presenting symptom in a newborn. Diagnosis Diagnosis can be made by either CT or X-ray. Treatment Treatment for a diaphragmatic hernia usually involves surgery, with acute injuries often repaired with monofilament permanent sutures. Other animals Peritoneopericardial diaphragmatic hernia is a type of hernia more common in other mammals Mammals () are a group of vertebrate animals constituting the class Mammalia (), characterized by the presence of mammary glands which in females produce milk for feeding (nursing) their young, a neocortex (a region of the brain), fur or .... This is us ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizures
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or neural oscillation, synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness (tonic-clonic seizure), to shaking movements involving only part of the body with variable levels of consciousness (focal seizure), to a subtle momentary loss of awareness (absence seizure). Most of the time these episodes last less than two minutes and it takes some time to return to normal. Urinary incontinence, Loss of bladder control may occur. Seizures may be provoked and unprovoked. Provoked seizures are due to a temporary event such as low blood sugar, alcohol withdrawal, abusing alcohol together with prescription medication, low blood sodium, fever, brain infection, or concussion. Unprovoked seizures occur without a known or fixable cause such that ongoing seizures are likely. Unprovoked seizur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tethered Spinal Cord Syndrome
Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord.Tethered Spinal Cord Columbia University Department of Neurosurgery Various forms include tight , , split cord malformations (), occult, |
Hyperventilation
Hyperventilation is irregular breathing that occurs when the rate or tidal volume of breathing eliminates more carbon dioxide than the body can produce. This leads to hypocapnia, a reduced concentration of carbon dioxide dissolved in the blood. The body normally attempts to compensate for this homeostatically, but if this fails or is overridden, the blood pH will rise, leading to respiratory alkalosis. The symptoms of respiratory alkalosis include: dizziness, tingling in the lips, hands or feet, headache, weakness, fainting, and seizures. In extreme cases it may cause carpopedal spasms, a flapping and contraction of the hands and feet. Factors that may induce or sustain hyperventilation include: physiological stress, anxiety or panic disorder, high altitude, head injury, stroke, respiratory disorders such as asthma, pneumonia, or hyperventilation syndrome, cardiovascular problems such as pulmonary embolisms, anemia, an incorrectly calibrated medical respirator, and adverse ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypohidrosis
Hypohidrosis is a disorder in which a person exhibits diminished sweating in response to appropriate stimuli. In contrast with hyp''er''hidrosis, which is a socially troubling yet often benign condition, the consequences of untreated hypohidrosis include hyperthermia, heat stroke and death. An extreme case of hypohidrosis in which there is a complete absence of sweating and the skin is dry is termed anhidrosis. Causes Diagnosis Sweat is readily visualized by a topical indicator such as iodinated starch ( Minor test) or sodium alizarin sulphonate, both of which undergo a dramatic colour change when moistened by sweat. A thermoregulatory sweat test can evaluate the body’s response to a thermal stimulus by inducing sweating through a hot box ⁄ room, thermal blanket or exercise. Failure of the topical indicator to undergo a colour change during thermoregulatory sweat testing indicates hypohidrosis, and further tests may be required to localize the lesion. Magnetic resonance i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
