Several patients became comatose, and all 6 died between 16 and 28 months of age. When performed, autopsy showed periventricular and cortical/subcortical encephalomalacia with massive brain edema, cystic alterations, and necrosis.
A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.
Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of Alaska Natives known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta. In Kuskokwim syndrome, contractures most commonly affect the knees, ankles, and elbows, although other joints, particularly of the lower body, can be affected. The contractures are usually present at birth and worsen during childhood. They tend to stabilize after childhood, and they remain throughout life.
"Cyclopean stimulation can influence sensations of self-motion in normal and stereoblind subjects" . Perception & Psychophysics . 28 (2): 139–142. doi : 10.3758/bf03204339 .
The mutation in individual 1, who was a 28-month-old girl born of unrelated parents from El Salvador, was found by a combination of homozygosity mapping and exome sequencing and confirmed by Sanger sequencing.
Archived from the original on 2005-04-08 . Retrieved 2008-12-28 . CS1 maint: archived copy as title ( link ) ^ a b c d e https://www.washingtonpost.com/news/worldviews/wp/2015/08/14/denied-an-abortion-11-year-old-rape-victim-in-paraguay-gives-birth/ v t e Abortion in South America Sovereign states Argentina Bolivia Brazil Chile Colombia Ecuador Guyana Paraguay Peru Suriname Uruguay Venezuela Dependencies and other territories Falkland Islands French Guiana South Georgia and the South Sandwich Islands v t e Abortion Main topics Definitions History Methods Abortion debate Philosophical aspects Abortion law Movements Abortion-rights movements Anti-abortion movements Issues Abortion and mental health Beginning of human personhood Beginning of pregnancy controversy Abortion-breast cancer hypothesis Anti-abortion violence Abortion under communism Birth control Crisis pregnancy center Ethical aspects of abortion Eugenics Fetal rights Forced abortion Genetics and abortion Late-term abortion Legalized abortion and crime effect Libertarian perspectives on abortion Limit of viability Malthusianism Men's rights Minors and abortion Natalism One-child policy Paternal rights and abortion Prenatal development Reproductive rights Self-induced abortion Sex-selective abortion Sidewalk counseling Societal attitudes towards abortion Socialism Toxic abortion Unsafe abortion Women's rights By country Africa Algeria Angola Benin Botswana Burkina Faso Burundi Cameroon Cape Verde Central African Republic Chad Egypt Ghana Kenya Namibia Nigeria South Africa Uganda Zimbabwe Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Brunei Cambodia China Cyprus East Timor Georgia India Iran Israel Japan Kazakhstan South Korea Malaysia Nepal Northern Cyprus Philippines Qatar Saudi Arabia Singapore Turkey United Arab Emirates Vietnam Yemen Europe Albania Andorra Austria Belarus Belgium Bosnia and Herzegovina Bulgaria Croatia Czech Republic Denmark Estonia Finland France Germany Greece Hungary Iceland Ireland Italy Kazakhstan Latvia Liechtenstein Lithuania Luxembourg Malta Moldova Monaco Montenegro Netherlands North Macedonia Norway Poland Portugal Romania Russia San Marino Serbia Slovakia Slovenia Spain Sweden Switzerland Ukraine United Kingdom North America Belize Canada Costa Rica Cuba Dominican Republic El Salvador Guatemala Mexico Nicaragua Panama Trinidad and Tobago United States Oceania Australia Micronesia Fiji Kiribati Marshall Islands New Zealand Papua New Guinea Samoa Solomon Islands Tonga Tuvalu Vanuatu South America Argentina Bolivia Brazil Chile Colombia Ecuador Guyana Paraguay Peru Suriname Uruguay Venezuela Law Case law Constitutional law History of abortion law Laws by country Buffer zones Conscientious objection Fetal protection Heartbeat bills Informed consent Late-term restrictions Parental involvement Spousal consent Methods Vacuum aspiration Dilation and evacuation Dilation and curettage Intact D&X Hysterotomy Instillation Menstrual extraction Abortifacient drugs Methotrexate Mifepristone Misoprostol Oxytocin Self-induced abortion Unsafe abortion Religion Buddhism Christianity Catholicism Hinduism Islam Judaism Scientology Category
Abortion in Ukraine is legal on request during the first twelve weeks of pregnancy. Between 12 and 28 weeks, abortion is available on a variety of grounds, including medical, social and personal grounds, and for any reason with the approval of a commission of physicians. [1] Prior to 1991, abortion in Ukraine was governed by the abortion laws of the Soviet Union .
In 2 patients with type I CD36 deficiency, Kashiwagi et al. (1995) identified the P90S mutation in both platelets and monocytes. Among 28 Japanese patients with type I CD36 deficiency, Kashiwagi et al. (2001) found that the P90S mutation had a greater than 50% frequency.
For subfertility , treatment may include clomiphene citrate or gonadotropins . [13] See also [ edit ] Hypothalamic–pituitary–prolactin axis Hyperprolactinemia References [ edit ] ^ a b c Jerome F. Strauss III; Robert L. Barbieri (28 August 2013). Yen & Jaffe's Reproductive Endocrinology: Physiology, Pathophysiology, and Clinical Management .
Isolated prolactin deficiency is a clear entity (Turkington, 1972) which may be an autosomal recessive trait. The affected females are generally healthy but are unable to nurse following parturition and have no detectable prolactin secretion after stimulation with phenothiazine. Falk (1992), who stated that only 3 cases had previously been reported, described a 36-year-old gravida 2, para 2 who had experienced normal childhood and adolescent development. After spontaneous menarche at age 13, her menses were grossly irregular, for which oral contraceptives were started at age 16. With the help of clomiphene, she conceived at the age of 30 and had an uneventful pregnancy which was followed, however, by failure of lactation during the puerperium.
Armanini et al. (1985) studied the original patient of Cheek and Perry (1958), then 28 years old, and found absent or greatly reduced high-affinity receptor binding sites for aldosterone on monocytes, suggesting that the basic defect resides in the aldosterone receptor.
Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. Epidemiology Prevalence is unknown. Clinical description Clinical expression of renal PHA1 is variable: in general, patients present with a salt wasting syndrome in the neonatal period, with weight loss, failure to thrive, vomiting and dehydration. Occasionally, polyhydramnios has been noted. Symptoms of renal PHA1 usually improve in early childhood and older children are generally asymptomatic with normal growth and psychomotor development. Etiology Renal PHA1 results from a defect in the tubular response to aldosterone caused by inactivating mutations in the NR3C2 gene (4q31) encoding the mineralocorticoid receptor. Diagnostic methods Diagnosis is based on the disease history and clinical examination, family history, detection of NR3C2 mutations, and biological findings (hyponatremia, hyperkalemia and inappropriately high urinary sodium excretion, low urinary potassium excretion with reduced fractional potassium excretion and transtubular potassium gradient, and, occasionally, hypercalciuria).
Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration . Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. Autosomal dominant pseudohypoaldosteronism type 1 (PHA1A) exhibits autosomal dominant inheritance with variable expression . It is caused by by mutations in the mineralocorticoid receptor gene ( NR3C2 ).
Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the sweat glands and colon. Pseudohypoaldosteronism type 1 is named for its characteristic signs and symptoms, which mimic (pseudo) low levels (hypo) of a hormone called aldosterone that helps regulate sodium levels. However, people with PHA1 have high levels of aldosterone. There are two types of PHA1 distinguished by their severity, the genes involved, and how they are inherited.
Attenuated familial adenomatous polyposis (AFAP) is an inherited condition that increases the chance to develop cancer of the large intestine ( colon ) and rectum. It is a milder form of classic familial adenomatous polyposis (FAP) and is characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer (average age 50 to 55 years). Other signs and symptoms may include benign or malignant tumors of the duodenum (a section of the small intestine) and, in rare cases, other symptoms of FAP. AFAP is caused by mutations in the APC gene and is inherited in an autosomal dominant manner. AFAP is generally managed with regular screening to detect if and when polyps develop.
A number sign (#) is used with this entry because of evidence that autosomal recessive familial adenomatous polyposis-2 (FAP2) is caused by homozygous or compound heterozygous mutation in the MUTYH (MYH) gene (604933) on chromosome 1p34. Description Autosomal recessive colorectal adenomatous polyposis is a disorder characterized by adult-onset of multiple colorectal adenomas and adenomatous polyposis. Affected individuals have a significantly increased risk of colorectal cancer (summary by Sieber et al., 2003). Cheadle and Sampson (2003) reviewed the molecular pathology and biochemistry of MYH colonic polyposis. For a discussion of genetic heterogeneity of FAP, see 175100. Clinical Features Autosomal recessive FAP is characterized by multiple colorectal adenomas and a high risk of colorectal cancer (summary by Sampson et al., 2003).
A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.
A number sign (#) is used with this entry because susceptibility to the development of colorectal cancer-10 (CRCS10) is conferred by heterozygous mutation in the POLD1 gene (174761) on chromosome 19q13. For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500. Clinical Features Palles et al. (2013) reported 2 large multigenerational families with a predisposition for the development of multiple colorectal adenomas and carcinomas between the ages of 26 and 68 years. In addition, 7 patients also developed endometrial carcinoma, and 1 patient had 2 primary brain tumors. All tumors showed microsatellite stability. Valle et al. (2014) reported a woman who was diagnosed with colorectal cancer (CRC) without polyps at age 36 years.
Hoffmann and Brooke (1970) described a family in which 6 persons in 3 generations had FAP and a mother and son had sarcoma of bone leading to death from metastases at 28 and 13 years of age, respectively. ... Dunlop et al. (1991) performed presymptomatic analysis of DNA from 41 individuals at risk for FAP. Of these, 28 individuals were informative, and 14 whose probe-derived risk was greater than 0.93 were subsequently demonstrated to be affected by clinical screening. ... Only 18.6% (33 of 177) received genetic counseling before the tests, and only 16.9% (28 of 166) provided written informed consent. ... Traverso et al. (2002) purified DNA from routinely collected stool samples and screened for APC mutations by a novel approach called digital protein truncation. Stool samples from 28 patients with nonmetastatic colorectal cancers, 18 patients with adenomas that were at least 1 cm in diameter, and 28 control patients without neoplastic disease were studied. APC mutations were identified in 26 of the 46 patients with neoplasia and in none of the 28 control patients. The authors emphasized, however, that their study had not established that the digital protein truncation test is a clinically useful screening procedure.
A number sign (#) is used with this entry because of evidence that familial adenomatous polyposis-3 (FAP3) is caused by homozygous or compound heterozygous mutation in the NTHL1 gene (602656) on chromosome 16p13. Description Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015). For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100). Clinical Features Weren et al. (2015) reported 3 unrelated families in which a total of 7 individuals had multiple colonic adenomas (range, 8-50 adenomas).
Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.
Attenuated familial adenomatous polyposis Other names Attenuated familial polyposis coli Specialty Oncology Attenuated familial adenomatous polyposis is a form of familial adenomatous polyposis , a cancer syndrome . It is a pre-malignant disease that can develop into colorectal cancer . A patient will have fewer than a hundred polyps located typically in right side of the colon. Cancer might develop as early as the age of five, though typically presents later than classical FAP. [1] See also [ edit ] Familial adenomatous polyposis Birt–Hogg–Dubé syndrome Cowden syndrome Cronkhite–Canada syndrome Juvenile polyposis MUTYH Peutz–Jeghers syndrome References [ edit ] ^ Herold, Gerd (2012). Innere Medizin : eine vorlesungsorientierte Darstellung (2012 ed.). Köln: Herold.
National Endocrine and Metabolic Diseases Information Service. Archived from the original on 28 October 2007 . Retrieved 14 August 2013 . ^ Muls, E.; Bouillon, R.; Boelaert, J.; Lamberigts, G.; Van Imschoot, S.; Daneels, R.; De Moor, P. (1982).
A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. Epidemiology Acute adrenal insufficiency (AAI) exact prevalence is unknown. Clinical description The disease may occur at any age. The onset is often sudden. The initial presentation may be non specific and may be limited to abdominal pain, nausea, vomiting, weight loss, tachycardia, and fever.
As such, caution must be exercised when interpreting the results from animal models. [18] Helminthic therapy is currently being studied as a treatment for several (non-viral) autoimmune diseases in humans including celiac disease , [26] [27] Crohn's disease , [28] [29] [30] [31] multiple sclerosis , [7] ulcerative colitis , [32] and atherosclerosis . [33] It is currently unknown which clinical dose or species of helminth is the most effective method of treatment. ... "Parasitic worms and inflammatory diseases" . Parasite Immunology . 28 (10): 515–23. doi : 10.1111/j.1365-3024.2006.00879.x . ... "A prescription for clinical immunology: The pills are available and ready for testing. A review". Curr Med Res Opin . 28 (7): 1193–202. doi : 10.1185/03007995.2012.695731 .
These include large tumor size, ciliary body involvement, presence of orange pigment overlying the tumor, and older patient age. [25] [26] Likewise several histological and cytological factors are associated with higher risk of metastasis, including presence and extent of cells with epithelioid morphology, presence of looping extracellular matrix patterns, increased infiltration of immune cells , [17] and staining with several immunohistochemical markers. [27] The most important genetic alteration associated with poor prognosis in uveal melanoma is inactivation of BAP1 , which most often occurs through mutation of one allele and subsequent loss of an entire copy of chromosome 3 ( monosomy 3) to unmask the mutant copy. [13] Because of this function in inactivation of BAP1, monosomy 3 correlates strongly with metastatic spread [28] Where BAP1 mutation status is not available, gains on chromosomes 6 and 8 can be used to refine the predictive value of the monosomy 3 screen, with gain of 6p indicating a better prognosis and gain of 8q indicating a worse prognosis in disomy 3 tumors. [29] In rare instances, monosomy 3 tumors may duplicate the BAP1-mutant copy of the chromosome to return to a disomic state referred to as isodisomy . [30] Thus, isodisomy 3 is prognostically equivalent to monosomy 3, and both can be detected by tests for chromosome 3 loss of heterozygosity . [31] Monosomy 3, along with other chromosomal gains, losses, amplifications, and LOH, can be detected in fresh or paraffin-embedded samples by virtual karyotyping . ... "Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variants". Hum Mutat . 28 (6): 578–88. doi : 10.1002/humu.20481 . ... "Choroidal nevus: a review of prevalence, features, genetics, risks, and outcomes". Curr Opin Ophthalmol . 28 (3): 228–37. doi : 10.1097/ICU.0000000000000361 .
Intraocular melanoma is a cancer of the pigment-producing cells (melanocytes) in the middle layer of the eye, called the uveal tract . The uveal tract has 3 main parts: (1) the choroid (the tissue layer filled with blood vessels); (2) the ciliary body (the ring of muscle tissue that changes the size of the pupil and the shape of the lens); and (3) the iris (the colored part of the eye). Most cases (90%) of intraocular melanoma develop in the choroid, called choroidal melanoma; the ciliary body is less commonly a site of origin, and the iris is the least common. Each manifests with different clinical features and symptoms. Treatment depends on the site of origin (choroid, ciliary body, or iris), size and location of the tumor, the age of the individual, and other factors.
Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.
