Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Von Economo neurons (VENs) are large spindle-shaped neurons localized to anterior cingulate cortex (ACC) and fronto-insular cortex (FI). VENs appear late in development in humans, are a recent phylogenetic specialization, and are selectively destroyed in frontotemporal dementia, a disease which profoundly disrupts social functioning and self-awareness. Agenesis of the corpus callosum (AgCC) is a congenital disorder that can have significant effects on social and emotional behaviors, including alexithymia, difficulty intuiting the emotional states of others, and deficits in self- and social-awareness that can impair humor, comprehension of non-literal or affective language, and social judgment. To test the hypothesis that VEN number is selectively reduced in AgCC, we used stereology to obtain unbiased estimates of total neuron number and VEN number in postmortem brain specimens of four normal adult controls, two adults with isolated callosal dysgenesis, and one adult whose corpus callosum and ACC were severely atrophied due to a non-fatal cerebral arterial infarction. The partial agenesis case had approximately half as many VENs as did the four normal controls, both in ACC and FI. In the complete agenesis case the VENs were almost entirely absent. The percentage of neurons in FI that are VENs was reduced in callosal agenesis, but was actually slightly above normal in the stroke patient. These results indicate that the VEN population is selectively reduced in AgCC, but that the VENs do not depend on having an intact corpus callosum. We conclude that in agenesis of the corpus callosum the reduction in the number of VENs is not the direct result of the failure of this structure to develop, but may instead be another consequence of the genetic disruption that caused the agenesis. The reduction of the VEN population could help to explain some of the social and emotional deficits that are seen in this disorder.
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PMID:Selective reduction of Von Economo neuron number in agenesis of the corpus callosum. 1881 97

Sturge-Weber syndrome is a rare congenital disorder. Seizures, stroke-like episodes, glaucoma, headache, and developmental delay are frequently associated features. An Internet-based questionnaire was designed to assess the frequency of use, effectiveness, and safety of aspirin treatment in Sturge-Weber syndrome. Thirty-four of 98 subjects who completed the survey reported having used aspirin. The mean number of reported stroke-like episodes was reduced from 1.1 to 0.3 per month in the year after starting aspirin (n = 26, p = .014). The median number of seizures was significantly reduced from 3 to 1 episodes per month (n = 21, p = .002). Thirty-nine percent of subjects reported a history of complications (predominantly increased bruising or gum/nose bleeding) while on aspirin; however, none reported discontinuing aspirin because of side effects. Our study showed a significant relative reduction in both self-reported seizure frequency and stroke-like episodes after starting aspirin. It also suggests that low-dose aspirin can be safely used in these patients.
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PMID:Survey of aspirin use in Sturge-Weber syndrome. 2142 42

Chronic renal failure in childhood is mostly caused by a congenital disorder or an acquired form of glomerulonephritis. We describe a case of a 13-year-old boy from Africa who presented with a cerebrovascular accident, malignant hypertension and renal insufficiency. Aetiological workup of his hypertension revealed underlying chronic renal failure due to histologically confirmed haemolytic uraemic syndrome. This case serves to remind clinicians of the serious complications of undiagnosed chronic renal failure in a child.
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PMID:Chronic renal failure: an unexpected presentation. 2191 68

Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle dystrophies), strokes and stroke-like episodes, epileptic seizures, developmental delay, and demyelinating neuropathy. Patients can also have neurological symptoms associated with coagulopathies, immune dysfunction with or without infections, and cardiac, renal, or hepatic failure, which are common features of glycosylation disorders. The diagnosis of congenital disorder of glycosylation should be considered for any patient with multisystem disease and in those with more specific phenotypic features. Measurement of concentrations of selected glycoconjugates can be used to screen for many of these disorders, and molecular diagnosis is becoming more widely available in clinical practice. Disease-modifying treatments are available for only a few disorders, but all affected individuals benefit from early diagnosis and aggressive management.
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PMID:Neurology of inherited glycosylation disorders. 2251 80

Homocystinuria is a congenital disorder of methyonine metabolism that leads to increased plasmatic, urinary and tissue deposits of methyonine and its main metabolite: homocysteine. Homocysteine deposits are toxic for the skeletal system (osteoporosis), the eyes (lens dislocation), central nervous system (seizures, psychiatric disorders) and also induce vascular damage (stroke and other cardiovascular events). This article reports two patients with homocystinuria in two siblings, followed by a concise review on the therapeutic strategies available for this disorder.
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PMID:[Clinical management of homocystinuria: case report and review of the literature]. 2358 68

PMM2-CDG (PMM2 gene mutations) is the most common congenital disorder of N-glycosylation. We conducted a nationwide survey to characterize the frequency, clinical features, glycosylation and genetic correlates in Italian patients with PMM2-CDG. Clinical information was obtained through a questionnaire filled in by the referral physicians including demographics, neurological and systemic features, neuroimaging data and genotype. Glycosylation analyses of serum transferrin were complemented by MALDI-Mass Spectrometry (MALDI-MS). Between 1996 and 2012, data on 37 Italian patients with PMM2-CDG were collected. All the patients with a severe phenotype were unable to walk unaided, 84 % had severe intellectual disability and 81 % microcephaly. Conversely, among 17 mildly affected patients 82 % had independent ambulation, 64 % had borderline to mild intellectual disability and 35 % microcephaly. Epilepsy and stroke-like events did not occur among patients with the mild phenotype. The rate and extent of systemic involvement were more pronounced in severely affected patients. The L32R misfolding mutation of the PMM2 gene occurred in 70 % of the patients with the mild phenotype and was associated with a less severe underglycosylation of serum Tf at MALDI-MS analyses. Despite their different disease severity, all patients had progressive (olivo)ponto-cerebellar atrophy that was the hallmark clinical feature for the diagnosis. A mild neurological phenotype of PMM2-CDG marked by preserved ambulatory ability and autonomy and associated with L32R mutation is particularly frequent in Italy. PMM2-CDG should be considered in patients with even mild developmental disability and/or unexplained progressive cerebellar atrophy.
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PMID:A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 2535 54

Thalassemia is a congenital disorder of hemoglobin synthesis which can lead to thromboembolic events and stroke in the brain. In this work we propose to use a functional connectivity model to discriminate between control and diseased subjects. Our connectivity measure is based on functional magnetic resonance imaging, and hence common variations of the blood oxygenation level in spatially distant areas. Analyzing this connectivity could highlight abnormal neuronal activation and provide us with a descriptor (bio-marker) of the disease. To estimate the connectivity, we propose a robust learning scheme based on the graphical lasso model, whose hyperparameter is validated within a cross-validation scheme. To analyze model fit, we transfer the mean connectivity from the control group to the thalassemic patient group. Our null hypothesis is that the model learned on control subjects is perfectly adequate (in the maximum likelihood sense) to describe the patients. The results of the permutation test suggest that the some patients with thalassemia do not have the same connectivity structure as the control.
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PMID:FUNCTIONAL CONNECTIVITY ANALYSIS FOR THALASSEMIA DISEASE BASED ON A GRAPHICAL LASSO MODEL. 3034 91


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