Ciuffo et al. (1985) reported a family in which the 62-year-old mother and her 36-year-old son and 28-year-old daughter had a seemingly 'new' syndrome of pulmonary valve stenosis, secundum type of atrial septal defect, and unique EKG changes: superior axis (-88 degrees in the mother) and absence of anterior forces in the precordial leads.
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. Molecular Genetics In a study of 28 unrelated Han Chinese families with atrial fibrillation, Yang et al. (2004) found an arginine-to-cysteine change at codon 27 (R27C; 603796.0004) of KCNE2 in 2 probands.
In 2013, Venezuela's currency lost value due to shortages in essentials such as staple foods and toiletries. [22] Since then, Venezuela has been in an economic crisis, where inflation has reached an all-time high. [23] [24] Maduro issued a state of emergency in 2016, allowing Venezuelans to cross Colombian borders for greater access to necessities, though for those in compromising situations this is not a possibility. [25] Maduro was re-elected to office in 2018, though some continue to deem it an illegitimate election. [26] There have been U.S. sanctions placed on oil export, preventing foreign entities from purchasing oil stock; this hurt Venezuela's economy because oil makes up so much of its GDP, which only aggravated the crisis. [27] Economic crisis [ edit ] The economic crisis In Venezuela has led to a decrease in access to contraceptives, and has caused many women to resort to sterilization and abortion as a family planning method. [28] [29] Since 2013, the crisis has left Venezuelans with a grim outlook on healthcare, as 90 percent of all citizens live in poverty. [30] Medicine is at a massive shortage, with over 80% of medicinal access restricted by the crisis. [31] Access to contraceptives [ edit ] Along with healthcare, particularly affected are Venezuelans’ access to contraceptives . ... Retrieved 15 October 2018 . ^ Zuniga, Mariana (28 November 2017). "Even sex is in crisis in Venezuela, where contraceptives are growing scarce" . ... Retrieved 20 October 2018 . ^ a b Zuniga, Mariana (28 November 2017). "Even sex is in crisis in Venezuela, where contraceptives are growing scarce" . ... "Clandestine Abortion Kills Latin American Women". Off Our Backs . 28 (11): 12–13. JSTOR 20836259 . ^ "Catholicism in Latin America" . 5 Facts for Pope Francis's Visit to South America . ... "Clandestine Abortion Kills Latin American Women". Off Our Backs . 28 (11): 12–13. JSTOR 20836259 . ^ Fisher, Ian (12 May 2006).
First, the patient is advised to enlist the help of an assistant who can help set-up the exposure environment, assist in handling the dog during sessions, and demonstrate modeling behaviors. [28] This should also be someone whom the patient trusts and who has no fear of dogs. [28] Then, the patient compiles a hierarchy of fear provoking situations based on their rating of each situation. [29] For example, on a scale from 0 to 100, a patient may feel that looking at photos of dogs may cause a fear response of only 50, however, petting a dog's head may cause of fear response of 100. [28] With this list of situations from least to most fearful the assistant helps the patient to identify common elements that contribute to the fear (i.e., size of the dog, color, how it moves, noise, whether or not it is restrained, etc.). [30] Next, the assistant helps the patient recreate the least fearful situation in a safe, controlled environment, continuing until the patient has had an opportunity to allow the fear to subside thus reinforcing the realization that the fear is unfounded. [28] Once a situation has been mastered, the next fearful situation is recreated and the process is repeated until all the situations in the hierarchy have been experienced. [28] Sample videos showing humans and dogs interacting without either exhibiting significant fear are available. [31] Recovery timeframe and maintenance [ edit ] Whether utilizing systematic desensitization therapy or exposure therapy, several factors will determine how many sessions will be required to completely remove the phobia; however, some studies (such as a follow-up study done by Dr. ... "Experiences, characteristics and treatment of women suffering from dog phobia". Anthrozoös . 16 (1): 28. CS1 maint: ref=harv ( link ) King, Neville J.; Clowes-Hollins, Viv; Ollendick, Thomas H. (1997).
Allelic losses on 1p and 19q, either separately or combined, are more common in classic oligodendrogliomas than in either astrocytomas or oligoastrocytomas. [5] In one study, classic oligodendrogliomas showed 1p loss in 35 of 42 (83%) cases, 19q loss in 28 of 39 (72%), and these were combined in 27 of 39 (69%) cases; there was no significant difference in 1p/19q loss of heterozygosity status between low-grade and anaplastic oligodendroglioma . [5] 1p/19q co-deletion has been correlated with both chemosensitivity and improved prognosis in oligodendrogliomas. [6] [7] The gene products lost as a consequence of this codeletion may include mediators of resistance to genotoxic therapies. ... The standard dosing schedule of temozolomide is 5 consecutive days of daily dosing during 28-day cycles. However, different dosing schedules may produce better results, such as continuous daily dosing using lower amounts of drug (e.g. 21-day dosing during 28-day cycles). ... In one study, researchers compared patients who received temozolomide for at least 12 months on the 5/28 day cycle, dividing such patients into two groups: "short term" patients receiving temozolomide for 12–18 cycles and those "long term" patients receiving 19 or more cycles (range was 19 to 32 cycles). ... "Allelic losses at 1p36 and 19q13 in gliomas: correlation with histologic classification, definition of a 150-kb minimal deleted region on 1p36, and evaluation of CAMTA1 as a candidate tumor suppressor gene" . Clin. Cancer Res . 11 (3): 1119–28. PMID 15709179 . ^ Laigle-Donadey F, Benouaich-Amiel A, Hoang-Xuan K, Sanson M (2005). ... "Role of exclusive chemotherapy as first line treatment in oligodendroglioma". J. Neurooncol . 85 (3): 319–28. doi : 10.1007/s11060-007-9422-3 .
A rare glial tumor characterized by a highly cellular lesion that is diffusly infiltrating at the periphery and consists of evenly-spaced monomorphic cells with the oligodendroglial phenotype. It typically occurs in the supratentorial white matter. Histologically, the cells are uniformly round to oval with round nuclei, delicate chromatin and small nucleoli. Most patients present with seizures.
Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas). Epidemiology Until now, the incidence of these tumors has been largely underestimated. Oligodendrogliomas may represent up to 30% of all adult gliomas. Annual incidence can therefore be estimated at around one new case per 100,000 individuals per year. Prevalence is estimated at 1/300,000. Clinical description Low grade tumors are usually diagnosed after a prolonged history of seizures and headaches.
Oligodendrogliomas are brain tumors arising from oligodendrocytes, a type of cell that makes up the supportive (glial) tissue of the brain. They can be low-grade (grade II) or high-grade (grade III, also called anaplastic). While they can be found anywhere within the cerebral hemisphere, they are most common in the frontal and temporal lobes. They are generally soft, grayish-pink tumors that often contain mineral deposits (calcifications), areas of hemorrhage, and/or cysts. They tend to grow slowly and may be present for many years before they are diagnosed.
The trend of piercing or tattooing the navel became popular in the 1990s. [25] It is popular among middle-aged women. [26] [27] Some belly chains attach to a navel piercing; they are called "pierced belly chains". [28] Similar to navel piercings, hip piercings are also popular among women to express a bold personality. [29] Some get stomach tattoos to attract attention of the onlookers, [30] but these tattoos are more commonly preferred by women than men. ... "Sari Gone West: 4 Innovative Ways to Style a Classic" . india.com . Archived from the original on 28 September 2016 . Retrieved 29 May 2016 . ^ a b "Rocked the body chain yet?" ... Retrieved 29 May 2016 . ^ a b SHILPA SEBASTIAN R (March 28, 2016). "Work that belly flat" . The Hindu . ... Retrieved 1 August 2015 . ^ Charlene Chua (Mar 28, 2012). "Belly sexy dancing" . Asia One . ... TimesNow.com . Archived from the original on 28 January 2019 . Retrieved 28 January 2019 . ^ Rachel Vara.
Retrieved 29 January 2020 . ^ "Diesem „Whistleblower" sollte man keinen Glauben schenken" . Der Tagesspiegel (in German). 28 January 2020 . Retrieved 29 January 2020 . ^ "Estonian skiers, coaches hit with four-year bans after doping investigation" . ... Retrieved 26 August 2019 . ^ a b Ballinger, Alex (28 November 2019). "UCI request anti-doping samples from 2016 and 2017 be re-tested in wake of Operation Aderlass scandal" . Cycling Weekly . Retrieved 28 November 2019 . ^ Weislo, Laura (22 July 2020). ... Bayerischer Rundfunk (in German). 30 September 2020 . Retrieved 28 October 2020 . ^ Krause, Sebastian (10 October 2020). " " Operation Aderlass": Bizarre Einblicke in ein Doping-Netzwerk" ["Operation Aderlass": Bizarre Insights into a Doping Network]. Bayerischer Rundfunk (in German) . Retrieved 28 October 2020 . ^ Wozny, Peter (29 October 2020).
Systematic reviews (including a Cochrane review ) indicate that the addition of radiation therapy to lumpectomy reduces recurrence of DCIS or later onset of invasive breast cancer in comparison with breast-conserving surgery alone, without affecting mortality. [27] [28] [29] The Cochrane review did not find any evidence that the radiation therapy had any long-term toxic effects . [27] While the authors caution that longer follow-up will be required before a definitive conclusion can be reached regarding long-term toxicity, they point out that ongoing technical improvements should further restrict radiation exposure in healthy tissues. [27] They do recommend that comprehensive information on potential side effects is given to women who receive this treatment. [27] The addition of radiation therapy to lumpectomy appears to reduce the risk of local recurrence to approximately 12%, of which approximately half will be DCIS and half will be invasive breast cancer; the risk of recurrence is 1% for women undergoing mastectomy. [30] Mastectomy [ edit ] There is no evidence that mastectomy decreases the risk of death over a lumpectomy. [31] Mastectomy; however, may decrease the rate of the DCIS or invasive cancer occurring in the same location. [6] [31] Mastectomies remain a common recommendation in those with persistent microscopic involvement of margins after local excision or with a diagnosis of DCIS and evidence of suspicious, diffuse microcalcifications. [32] Sentinel node biopsy [ edit ] Some institutions that have encountered high rates of recurrent invasive cancers after mastectomy for DCIS have endorsed routine sentinel node biopsy (SNB). [33] However, research indicates that sentinel node biopsy has risks that outweigh the benefits for most women with DCIS. [34] SNB should be considered with tissue diagnosis of high risk DCIS (grade III with palpable mass or larger size on imaging) as well as in people undergoing mastectomy after a core or excisional biopsy diagnosis of DCIS. [35] [36] Prognosis [ edit ] With treatment, the prognosis is excellent, with greater than 97% long-term survival. ... ISBN 9780387752464 . ^ "Breast Cancer" . Retrieved 2010-06-28 . ^ "Signs and Symptoms" . Retrieved 2010-06-28 . ^ "After the mammogram" . Archived from the original on 2010-04-07 . Retrieved 2010-06-28 . ^ "Intraductal Carcinoma of the Breast" . Archived from the original on 2010-06-11 . Retrieved 2010-06-28 . ^ "Ductal Carcinoma In Situ" . cancer.gov . ... Archived from the original on 2016-04-10 . Retrieved 2010-06-28 . ^ Tan JC, McCready DR, Easson AM, Leong WL (February 2007).
Overview Ductal carcinoma in situ (DCIS) is the presence of abnormal cells inside a milk duct in the breast. DCIS is considered the earliest form of breast cancer. DCIS is noninvasive, meaning it hasn't spread out of the milk duct and has a low risk of becoming invasive. DCIS is usually found during a mammogram done as part of breast cancer screening or to investigate a breast lump. While DCIS isn't an emergency, it does require an evaluation and a consideration of treatment options. Treatment may include breast-conserving surgery combined with radiation or surgery to remove all of the breast tissue.
Archived from the original on 2007-09-28 . Retrieved 2011-11-28 . ^ Dissociative Amnesia, DSM-IV Code 300.12 ( PsychNet-UK.com ) Archived November 28, 2010, at the Wayback Machine ^ Complete List of DSM-IV Codes ( PsychNet-UK.com ) Archived January 6, 2011, at the Wayback Machine ^ "Background to Dissociation ( The Pottergate Centre for Dissociation & Trauma )" . ... Archived from the original on 2012-01-14 . Retrieved 2011-11-28 . ^ a b Merck Manual 1999 section 15 (Psychiatric Disorders), chapter 188 (Dissociative Disorders) ^ "Experts say that Roberts may indeed have amnesia | Juneau Empire - Alaska's Capital City Online Newspaper" . ... Archived from the original on 2011-11-20 . Retrieved 2011-11-28 . ^ "Shows" . Five . ^ a b The Associated Press (2008-09-16).
The objective of the program is to "sharply" reduce obesity rates by the year 2020. [5] [6] The program will try and meet the target by improving the quality of food offered in schools and hospitals along with increasing exercise levels in children. [5] [6] Bundeswehr's fitness camp [ edit ] As of 2007, forty percent of the Bundeswehr 's 300,000 conscripts doing military service are considered overweight. [25] [26] A 2007 report declared "excessive bureaucracy" for limiting the time soldiers have to exercise. [26] As a result, an anti-obesity fitness camp opened in Warendorf , North Rhine-Westphalia . [25] Projekt Kugelblitz [ edit ] A hospital in Leverkusen , North Rhine-Westphalia started Projekt Kugelblitz to help obese children and adolescence. [27] The aim of the program is to "improve the self-perception, so that the participants develop more sensitive to the context of frustration and compulsive eating, and the selection and preparation of foods and of exercise and well-being". [27] Anti-obesity clinic [ edit ] An anti-obesity clinic in Wesseling , North Rhine-Westphalia works with a maximum of eight participants for 27 months. [28] The program is about nutrition counseling, physical exercise and behavior therapy . [28] Each week they are cared for in highly structured and interlinked courses and motivated. [28] Up to 80 appointments are intended per year. [28] School involvement and funding [ edit ] North Rhine-Westphalia introduced fitness test for students in the second grade due to an increase of children and adolescents being overweight. [29] The students will be weighed and be put through a series of eight exercises. [29] The state government also wants to fund sports for children who have a weight problem. [29] Forbes 2007 ranking [ edit ] Source : Forbes.com [30] The following list reflects the percentage of overweight adults aged 15 and over. ... Deutsche Welle . 30 January 2008 . Retrieved 28 June 2010 . ^ a b c "Fast jedes Kinder-Produkt ist zu süß und zu fett" .
The affected female and her mother had X-inactivation ratios of 28:72 and 63:37, respectively. The variant was not found in approximately 67,600 control samples.
International Society for Infectious Diseases . Retrieved 28 September 2016 . ^ "Scombroid fish poisoning - Australia: (NS) canned tuna 2015-03-01 12:51:27" . www.promedmail.org . International Society for Infectious Diseases . Retrieved 28 September 2016 . ^ "26 People Were Poisoned Because of Eating Stale Mackerel | Shenzhen Post" . Retrieved 28 September 2016 . ^ "013-04-05 23:00:36 Scombroid fish poisoning - UK (Scotland) tuna sandwiches" . www.promedmail.org . Retrieved 28 September 2016 . ^ "2011-10-22 16:44:38 Scombroid poisoning, tuna - Sweden: (Stockholm) restaurant" . www.promedmail.org .
Autopsy showed fibrosis of the coronary arteries with calcifications involving the intima, internal elastic lamina, and media, and medium-sized arteries in the adrenal glands, pancreas, thyroid, and testes also showed extensive arterial calcification. At 28 years of age, the older brother presented for evaluation of yellowish papules on his neck; he had no cardiovascular symptoms and cardiac examination and echocardiography were normal. ... Nitschke et al. (2012) restudied this patient and identified compound heterozygosity for splice site mutations in the ABCC6 gene (603234.0015 and 603234.0029). In a 28-year-old French man with pseudoxanthoma elasticum (PXE; 264800), who had a younger brother who died of GACI at age 15 months, Le Boulanger et al. (2010) identified compound heterozygosity for missense mutations in the known causative gene for PXE, ABCC6 (603234.0025 and 603234.0026), which were also found in heterozygosity in each of his unaffected parents, respectively. ... Nitschke et al. (2012) analyzed the ABCC6 gene in 28 GACI patients from 25 unrelated families who were negative for mutation in the ENNP1 gene, as well as 2 unrelated GACI patients in whom only 1 ENNP1 mutation had been detected.
A number sign (#) is used with this entry because of evidence that generalized arterial calcification of infancy-1 (GACI1) is caused by homozygous or compound heterozygous mutation in the ENPP1 gene (173335) on chromosome 6q23. Mutation in ENPP1 also causes an autosomal recessive form of hypophosphatemic rickets (see ARHR2, 613312). Description Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). Genetic Heterogeneity of Arterial Calcification Generalized arterial calcification of infancy-2 (GACI2; 614473) is caused by mutation in the ABCC6 gene (603234) on chromosome 16p13.
A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. Epidemiology LCMN has a prevalence of about 1/20,000, while GCMN is estimated to occur in 1/50,000 to 1/500,000 births, becoming increasingly rare as more body surface is implicated. While present in all ethnic groups examined to date and in both genders, there is a slight female predominance. Clinical description CMN develop during the first trimester of pregnancy. An LCMN is a darkly colored, circumscribed area of the skin sometimes covered with dense hair or proliferative nodules, and/or accompanied by multiple small satellite nevi that develop at birth or during early childhood (tardive satellites).
A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. Giant congenital nevi can occur in people of any racial or ethnic background and on any area of the body. They result from localized genetic changes in the fetus that lead to excessive growth of melanocytes, the cells in the skin that are responsible for skin color. People with giant congenital nevi may have no other symptoms or may have several symptoms such as fragile, dry, or itchy skin.
A number sign (#) is used with this entry because congenital melanocytic nevus syndrome (CMNS) is caused by somatic mutation in the NRAS gene (164790) on chromosome 1p13. Two other forms of benign melanocytic proliferation, nevus spilus and Spitz nevus, are caused by somatic mutation in the HRAS gene (190020) on chromosome 11p15. Description Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth. Most individuals have 1 or more large or giant lesions greater than 20 cm and up to over 60 cm in diameter, which may cover up to 80% of total body area. These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body.
Laplanche et al. (1999) described a 5-generation French kindred in which 11 members were affected by a form of spongiform encephalopathy which was originally diagnosed as Gerstmann-Straussler-Scheinker disease (137440). Mean age at onset was 28 years (range, 21 to 34 years). In 6 instances, the patients were hospitalized in psychiatric institutions with various diagnoses, the most frequent being mania or mania-like symptoms. ... INHERITANCE - Autosomal dominant NEUROLOGIC Central Nervous System - Cognitive decline - Dementia - Difficulties in coordination - Unsteady gait - Ataxia - Rigidity - Chorea - Grimacing - Dysarthria - Dysmetria - Diffuse brain atrophy - Cell loss and gliosis in the basal ganglia - Fibrillary plaques in the cerebellar cortex - Spongiosis, mild Behavioral Psychiatric Manifestations - Personality changes - Aggression - Anxiety - Restlessness - Depression - Delusions MISCELLANEOUS - Mean age at onset 28 years - Prominent psychiatric symptoms MOLECULAR BASIS - Caused by insertion of 8 extra octapeptide repeats in the prion protein gene (PRNP, 176640.0001 ) ▲ Close
A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.
As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease. Researchers have described four HDL syndromes, designated Huntington disease-like 1 (HDL1) through Huntington disease-like 4 (HDL4). These progressive brain disorders are characterized by uncontrolled movements, emotional problems, and loss of thinking ability. HDL syndromes occur in people with the characteristic features of Huntington disease who do not have a mutation in HD, the gene typically associated with that disorder. HDL1, HDL2, and HDL4 usually appear in early to mid-adulthood, although they can begin earlier in life.
In a subset of 490 individuals with UGT1A1*28 (191740.0011) and rs6742078 genotypes available, they found the markers to be in high linkage disequilibrium, suggesting the signal may be attributed to the UGT1A1*28 polymorphism.
