A number sign (#) is used with this entry because of evidence that susceptibility to glioma-9 (GLM9) is conferred by heterozygous mutation in the POT1 gene (606478) on chromosome 7q31. Mutation in the POT1 gene can also cause susceptibility to cutaneous malignant melanoma-10 (CMM10; 615848). For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800). Clinical Features Bainbridge et al. (2015) reported 3 unrelated families in which at least 2 members had adult-onset glioma, either an astrocytoma or an oligodendroglioma. In 2 families, several other family members had different cancers, including lung cancer, kidney cancer, and leukemia.
A rare glial tumor characterized by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.
Neurol . 60 (12): 1787–90. doi : 10.1001/archneur.60.12.1787 . PMID 14676058 . Retrieved 2008-12-28 . ^ Latin: myelitis transversa & the disorder's name is derived from Greek myelós referring to the "spinal cord", and the suffix -itis, which denotes inflammation.[1] ^ Dhandapani, S; et, al. (2013).
The cervix is dilated prior to the injection, and the chemical solution induces uterine contractions which expel the fetus . [1] Sometimes a dilation and curettage procedure is necessary to remove any remaining fetal or placenta tissue. [2] Instillation methods can require hospitalization for 12 to 48 hours. [2] In one study, when laminaria were used to dilate the cervix overnight, the time between injection and completion was reduced from 29 to 14 hours. [3] Usage [ edit ] The method of instillation abortion was first developed in 1934 by Eugen Aburel . [4] It is most frequently used between the 16th and 24th week of pregnancy , but its rate of use has declined dramatically in recent years. [2] In 1968, abortion by the instillation of saline solution accounted for 28% of those procedures performed legally in San Francisco, California . [5] Intrauterine instillation (of all kinds) declined from 10.4% of all legal abortions in the U.S. in 1972 to 1.7% in 1985, [6] falling to 0.8% of the total incidence of induced abortion in the United States during 2002, [7] and 0.1% in 2007. [8] In a 1998 Guttmacher Institute survey , sent to hospitals in Ontario , Canada , 9% of those hospitals in the province which offered abortion services used saline instillations, 4% used urea, and 25% used prostaglandin. [9] A 1998 study of facilities in Nigeria which provide abortion found that only 5% of the total number in the country use saline. [10] Complications [ edit ] Once in common practice, abortion by intrauterine instillation has fallen out of favor, due to its association with serious adverse effects and its replacement by procedures which require less time and cause less physical discomfort. [11] Saline is in general safer and more effective than the other intrauterine solutions because it is likely to work in one dose.
Nodding syndrome is a rare form of epilepsy that occurs in children between the ages of 5 and 16. It is seen almost exclusively in children living in specific regions of Tanzania, Uganda and the Republic of South Sudan. Signs and symptoms of the condition include head nodding, seizures, stunted growth, and deterioration of cognitive abilities. Nodding syndrome may lead to malnutrition or even death through seizure-associated accidents. Many studies have identified an association between Nodding syndrome and Onchocerca volvulus , a parasitic worm that can also cause a condition called river blindness .
"MD, PhD, FAAP" . Emedicine Medscape . Medscape. p. 28 . Retrieved 29 January 2015 . ^ "What You Should Know About Marasmus" . ^ "What You Should Know About Marasmus" .
Shellfish beds are subsequently opened after two weeks with confirmation of safety by mouse bioassay testing (mouse bioassay testing involves the injection of mice with shellfish extract with subsequent observation for mouse death [4] ). [7] Neurotoxic shellfish poisoning Other names NSP See also [ edit ] Amnesic shellfish poisoning Diarrheal shellfish poisoning Paralytic shellfish poisoning Ciguatera fish poisoning References [ edit ] ^ a b Zhang, Fan; Xu, Xunxun; Li, Tingting; Liu, Zhonghua (2013-11-28). "Shellfish Toxins Targeting Voltage-Gated Sodium Channels" .
Axis I disorders in subjects with and without depressive personality disorder [ citation needed ] Present (N=30) Absent (N=24) Disorder N % N % pa [ clarification needed ] Major depression Current 12 40% 7 29% 0.57 Lifetime 25 83% 17 71% 0.33 Bipolar disorder Current 2 7% 2 8% 1.00 Lifetime 2 7% 4 17% 0.39 Dysthymia All types 11 37% 8 33% 1.00 Primary early onset 5 17% 5 21% 0.74 Any mood disorder Current 20 67% 14 58% 0.58 Lifetime 28 93% 22 92% 1.00 Substance use disorders (lifetime) 11 37% 7 29% 0.77 Anxiety disorders (lifetime) 15 50% 11 46% 0.79 Somatoform disorders (lifetime) 2 7% 1 4% 1.00 Eating disorders (lifetime) 7 23% 1 4% 0.06 Millon’s subtypes [ edit ] Theodore Millon identified five subtypes of depression. [1] [3] Any individual depressive may exhibit none, or one or more of the following: Subtype Description Personality traits Ill-humored depressive Including negativistic features Patients in this subtype are often hypochondriacal, cantankerous and irritable, and guilt-ridden and self-condemning.
"Traumatic subarachnoid hemorrhage: Our current understanding and its evolution over the past half century". Neurol. Res . 28 (4): 445–52. doi : 10.1179/016164106X115053 .
"Scale for the assessment of positive symptoms" Archived 2010-12-28 at the Wayback Machine ; The Movement Disorder Society. ^ Lenzenweger, MF, Bennett, ME, & Lilenfeld, LR (1997).
A number sign (#) is used with this entry because adenylosuccinase deficiency (ADLSD) is caused by homozygous or compound heterozygous mutation in the ADSL gene (608222) on chromosome 22q13. Description Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. ADSL deficiency leads to the accumulation of toxic intermediates, including succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) in body fluids. There are 3 major phenotypic forms of the disorder that correlate with different values of the S-Ado and SAICAr concentration ratios (S-Ado/SAICAr) in the cerebrospinal fluid. These include the most severe fatal neonatal encephalopathy (S-Ado/SAICAr ratio less than 1); childhood form (type I) with severe psychomotor retardation (S-Ado/SAICAr ratio close to 1), and a milder form (type II) with psychomotor retardation or hypotonia (S-Ado/SAICAr ratio greater than 2) (summary by Baresova et al., 2012).
A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. Epidemiology The prevalence and incidence of ADSL deficiency are unknown. More than 80 cases have been reported to date, mostly from Europe and the Mediterranean region. The disorder may be underdiagnosed as it is probably panethnic. Clinical description ADSL covers a continuous clinical spectrum with three major forms: fatal neonatal, severe (type I), and mild to moderate form (type II). Clinical variability is found, even in patients from the same family.
Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids. Adenylosuccinate lyase deficiency is classified into three forms based on the severity of the signs and symptoms. The most severe is the neonatal form. Signs and symptoms of this form can be detected at or before birth and can include impaired growth during fetal development and a small head size (microcephaly ). Affected newborns have severe encephalopathy, which leads to a lack of movement, difficulty feeding, and life-threatening respiratory problems.
Adenylosuccinase deficiency impacts the way the body breaks down certain chemicals and results in damage to the nervous system. There are several types of adenylosuccinase deficiency. Symptoms vary greatly from person to person. In general, adenylosuccinase deficiency causes intellectual and movement disabilities, autistic features , epilepsy, low muscle tone, and feeding problems. In the most severe form of this condition, symptoms begin in infancy and death usually occurs in early childhood. Adenylosuccinase deficiency occurs due to a ADSL gene that is not working correctly and is inherited in an autosomal recessive fashion.
There is debate as to whether these should be viewed as separate diseases, or part of a continuum. [10] Consuming foods containing serotonin has been suggested to aid in the treatment of NES, [11] but other research indicates that diet by itself cannot appreciably raise serotonin levels in the brain. [12] A few foods (for example, bananas [12] ) contain serotonin, but they do not affect brain serotonin levels, [12] and various foods contain tryptophan , but the extent to which they affect brain serotonin levels must be further explored scientifically before conclusions can be drawn, [12] and "the idea, common in popular culture, that a high-protein food such as turkey will raise brain tryptophan and serotonin is, unfortunately, false." [12] Contents 1 Presentation 1.1 Comorbidities 2 See also 3 References 4 External links Presentation [ edit ] Comorbidities [ edit ] NES is sometimes comorbid with excess weight ; as many as 28% of individuals seeking gastric bypass surgery were found to suffer from NES in one study. [13] However, not all individuals with NES are overweight. [9] [14] Night eating has been associated with diabetic complications . [15] Many people with NES also experience depressed mood [9] [16] [17] [18] [19] [20] [21] [22] [23] and anxiety disorders . [21] [22] [24] [25] See also [ edit ] Nocturnal sleep related eating disorder References [ edit ] ^ a b c Allison; et al. (2010).
"Immunohistologic analysis of the organization of normal lymphoid tissue and non-Hodgkin's lymphomas" . J. Histochem. Cytochem . 28 (8): 746–60. doi : 10.1177/28.8.7003001 .
This vulnerability may have developed during childhood if they grew up being told by their parents that sex and its physiological functions be evil, sinful and dirty, but were subsequently unable to detach such shameful feelings nor reverse it upon reaching adulthood, even when romantic initiatives were subsequently approved of or encouraged by their parents. [26] [27] Behavior [ edit ] Sometimes the word is used in a sense wherein it is metaphorical and unrelated to its etymological origins, as in for instance when a man sees another man as a rival and a potential source of infidelity for his spouse. [28] Other reviews have applied the term as a euphemism or allegory to indicate that society is in contemporary times less willing to be objective and straightforward in discussions of the physiological aspects of the young male body in general due to prudery, or a celibacist and puritan standpoint that in particular targets men and boys.
