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hyperhomocysteinemia/opkast
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Portal, superior mesenteric and splenic vein thrombosis secondary to hyperhomocysteinemia with pernicious anemia: a case report.
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BACKGROUND
Acute portomesenteric vein thrombosis is an uncommon but serious condition with potential sequelae, such as small-bowel gangrene and end-stage hepatic failure. It is known to be caused by various pro-thrombotic states, including hyperhomocysteinemia. We describe what is, to the best of
A Rare Case of Hyperhomocysteinemia-associated Thrombotic Stroke in the Pediatric Age Group.
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Association between hyperhomocysteinemia and stroke has been well documented in the literature. However, there are limited reports revealing stroke events in the pediatric population affected by hyperhomocysteinemia. Herein, we present a case which shows genetically inherited hyperhomocysteinemia
[Hyperhomocysteinemia-related cerebral venous thrombosis].
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BACKGROUND
Moderate hyperhomocysteinemia is a causal risk factor for atherosclerosis and venous thromboembolism. Recent researches have tried to find out a causal relationship. However, only a small number of cases have been reported on hyperhomocysteinemia and cerebral venous thrombosis in the
Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report.
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[Clinical studies on fifty-seven Chinese patients with combined methylmalonic aciduria and homocysteinemia].
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OBJECTIVE
Methylmalonic aciduria (MMA) is a common one of the congenital disorders of organic acids metabolism. Some of the patients with the disorder are complicated with homocysteinemia. Recently, gas chromatography-mass spectrometry (GCMS) has been used to diagnose MMA in China. However, the
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
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The most common inborn error of cobalamin (cbl) metabolism in China is the cblC type characterized by combined methylmalonic acidemia and hyperhomocysteinemia. The clinical presentation is relatively nonspecific, such as feeding difficulty, recurrent vomiting, hypotonia, lethargy, seizures,
Reversible diencephalic dysfunction as presentation of deep cerebral venous thrombosis due to hyperhomocysteinemia and protein S deficiency: Documentation of a case.
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A 45-year-old man presented with global headache, vomiting and abnormal behavior after cross-country run at high altitude. There was no seizure, loss of consciousness, fever or head injury. He was conscious, abulic and uncooperative with normal vitals. There was no focal neurological deficit. Non
Clinical presentation and outcome of mesenteric vein thrombosis: a single-center experience.
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Mesenteric venous thrombosis (MVT) is an uncommon event. We retrospectively analyzed data for patients who were admitted with MVT between June 2005 and May 2012 in Qatar. The study included 35 patients with a mean age of 45 ± 11 years. The risk of MVT was significantly high among males who smoked
Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis.
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OBJECTIVE
To summarize the electroclinical features and prognosis of epilepsy in children with methylmalonic acidemia (MMA).
METHODS
The medical records of hospitalized MMA patients associated with epilepsy were retrospectively reviewed. The clinical manifestations, laboratory examination results,
Isolated methylmalonic acidemia: a case report.
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Isolated methylmalonic acidemia (AMR) is an inborn error of metabolism due to an enzymatic deficit in methylmalonyl-CoA mutase. AMR lead to increased methylmalonic acid in plasma and urine without hyperhomocysteinemia. The clinical signs are recurrent episodes of ketoacidosis and bouts of vomiting,
Outcome of organic acidurias in China.
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From June 1998 to May 2007, 9566 urine samples were collected from patients with psychomotor deficits, seizures, vomiting and unconsciousness in Peking University First Hospital. Their urine organic acids profiles were analysed using gas chromatography - mass spectrometry (GCMS), GCMS solution and
Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.
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Hypoglycemia is the usual feature of commonly occurring organic acidemias. Organic acidemias manifesting as hyperglycemia or diabetic ketoacidosis are rare and only a few cases have been reported. We report a 13-month-old boy who presented with vomiting, dehydration, coma, hyperglycemia, high anion
Spontaneous regression of pancreatic cancer with liver metastases.
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Spontaneous cancer regression is a rare event, scarcely reported among gastrointestinal malignancies. Pancreatic adenocarcinoma regression has been documented in five previous cases, none of which included liver metastases, and the mechanism by which this occurs is not known. A 56-year-old woman
Periconceptional folic acid containing multivitamin supplementation.
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OBJECTIVE
A summary about the final results of the Hungarian double-blind placebo controlled randomised trial of periconceptional folic acid containing multivitamin and trace element supplementation.
RESULTS
The major finding is a significant prevention of the first occurrence of neural-tube defect,
Central retinal artery occlusion, an early sign of crizotinib resistance in an alk positive adenocarcinoma of lung: A rare case report.
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About 4% of non-small-cell lung carcinomas involve an EML4-ALK tyrosine kinase fusion gene and occur almost absolutely in carcinomas arising in non-smokers. Crizotinib, the first inhibitor of anaplastic lymphoma kinase (ALK), ROS1 and c-Met receptor kinase, has been used in the treatment of
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