hyperhomocysteinemia/febre

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Severe thrombophilia with antiphospholipid syndrome and hyperhomocysteinemia in a patient with Schnitzler's syndrome.

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Schnitzler's syndrome is a rare condition with chronic urticaria, intermittent fever, bone pain, and a monoclonal IgM gammopathy. Most patients have a chronic and indolent course, but a small number ultimately progress to a lymphoplasmacytic malignancy. We describe a patient with Schnitzler's

Autopsy findings in an atypical case of occult massive fatal pulmonary embolism in a backdrop of hyperhomocysteinemia.

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A 43-year-old apparently healthy male presented with fever and presyncope. He was suspected to have massive pulmonary thromboembolism based on the clinico-biochemical profile. Despite aggressive thrombolytic therapy, he succumbed to his illness within 12 h of admission. Postmortem examination showed

Vitamin B12 and vitamin d deficiencies: an unusual cause of Fever, severe hemolytic anemia and thrombocytopenia.

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The array of diagnostic workup for pyrexia of unknown origin (PUO) generally revolves in searching for infections, inflammatory/autoimmune, and endocrine etiologies. A differential diagnosis of fever, hemolytic anemia, and thrombocytopenia can have etiologies varying from infections like malaria,

Acute pyelonephritis with renal vein and inferior vena cava thrombosis in a case of hyperhomocysteinemia.

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Acute pyelonephritis is not considered a common cause of renal vein (RVT) and inferior vena caval thrombosis (IVCT). Apart from malignancy, RVT is not an uncommon condition amongst patients with nephrotic syndrome, most commonly seen in patients with membranous glomerulonephritis. However, RVT

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

Epigenetics and the uremic phenotype: a matter of balance.

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Epigenetics, which is the study of changes in gene expression that occur without changes in DNA sequence, is a novel discipline that has languished in the shadow of its genomic big brother. So far, studies of the epigenome have attracted little interest in nephrology. Chronic kidney disease is an

Intracardiac thrombus in Behçet's disease: two case reports.

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Intracardiac thrombus in Behçet's disease is an extremely rare manifestation. We report two such cases. A 20-year-old man presented with dyspnoea, cough and haemoptysis. Right heart thrombus associated with pulmonary artery aneurysm and thromboembolism was identified by helical CT and

Mesenteric venous thrombosis: clinical and therapeutical approach.

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Mesenteric venous thrombosis (MVT), an unusual location of deep venous thrombosis, occurs especially on a predisposing terrain. Recently, hyperhomocysteinemia has been shown to be associated with venous thrombosis, often recurrent and located in an uncommon site. Hyperhomocysteinemia is mainly due

[THE DIFFERENTIATED APPROACH TO PREVENTION OF NEURAL TUBE DEFECTS IN CHILDREN].

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Neural tube defects occupy second place in frequency after the defects of the cardiovascular system. The folate metabolism violation and hyperhomocysteinemia in women are proved to be the leading risk factors for the NTD of the fetus. Polymorphism of the 5,10-methylenetetrahydrofolate reductase gene

Peripheral arterial disease in non-diabetics: don't miss vasculopathy of specific etiology--non atherosclerotic (VSE-NA) in young patients.

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OBJECTIVE To find out the proportion of non-diabetic peripheral arterial disease (PAD) attributable to systemic connective tissue diseases (CTD) or thrombophillic states as etiology and to identify clinical and laboratory features that would point towards systemic disease other than

A novel mutation of the transcobalamin II gene in an infant presenting with hemophagocytic lymphohistiocytosis.

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Transcobalamin II (TC II) deficiency is a rare disorder of cobalamin (CBL, vitamin B12) metabolism that occurs due to mutations in transcobalamin gene (TCN2). Hemophagocytic lymphohistiocytosis (HLH) in contrast is a syndrome characterized by uncontrolled immune response with hyperinflammation. A

Clinical profile and outcome of cerebral venous sinus thrombosis at tertiary care center.

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BACKGROUND Thrombosis of the cerebral venous sinuses (CVST) is an uncommon form of stroke, usually affecting young individuals. Clinical features of CVST are diverse, and for this reason, high degree of clinical suspect is mandatory to diagnose the conditions. METHODS This study was conducted over a

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