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Hyperhomocysteinemia in cardiovascular diseases: revisiting observational studies and clinical trials
In conclusion, revisiting observational studies and clinical trials suggests that cardiovascular patients should be screened for hyperhomocysteinemia, when no other risk factor is found. Patients with intermediate/major hyperhomocysteinemia should be properly assessed and treated for vitamin B deficiencies and inherited disorders according to current guidelines. Further trials are needed to assess the lowering homocysteine effect according to hyperhomocysteinemia categories at baseline.PMID:36170884 | DOI:10.1055/a-1952-1946
Source: Thrombosis and Haemostasis - September 28, 2022 Category: Hematology Authors: Jean-Louis Gueant Rosa-Maria Gueant-Rodriguez Abderrahim Oussalah Stephane Zuily Irwin Rosenberg Source Type: research

Thromboembolic complications of recreational nitrous oxide (ab)use: a systematic review
We report on the thromboembolic complications, a less known side effect, associated with recreational inhalation of nitrous oxide. An extensive literature search was performed for publications reporting on the thromboembolic complications associated with recreational nitrous oxide abuse. Data about sex, age, location of thrombosis, laboratory findings, therapy and outcome were collected. A total of 13 case reports or case series were identified comprising a total of 14 patients. The reported thromboembolic side effects included deep venous thrombosis, pulmonary embolism, mesenterial-, portal and splenic vein thrombosis, ce...
Source: Journal of Thrombosis and Thrombolysis - June 27, 2022 Category: Hematology Source Type: research

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

Recurrent stroke in a patient with vitamin B12 deficiency and MTHFR mutation
We report an unusual case of recurrent stroke in a patient with vitamin B12 deficiency who was also homozygous for the methylene tetrahydrofolate reductase (MTHFR) gene mutation. The patient was a 35-year-old male vegetarian with no known medical history who initially presented with global aphasia, slurred speech, right facial weakness, and right-sided hemiplegia and was found to have a stroke (NIH Stroke Scale score of 25). At that time a CT scan of the head ruled out intracranial hemorrhage and a CT angiogram of the head and neck was done. The patient was found to have occlusion of the M1 segment of the left middle cereb...
Source: Neurology Clinical Practice - February 12, 2017 Category: Neurology Authors: Zacharia, G., Shani, D., Ortiz, R. A. Tags: Stroke in young adults, Stroke prevention, Hematologic, All Cerebrovascular disease/Stroke Case Source Type: research

Elevated fibrinogen and lowered homocysteine-vitamin determinants and their association with left atrial thrombus in patients with rheumatic mitral stenosis.
In this study, fibrinogen, vitamin B12 and folate were independently associated with the occurrence of thrombus in patients with rheumatic MS. Hence, our results suggest that increase in procoagulant mechanisms contribute to increased risk of thrombosis in the left atrium in patients with rheumatic MS. PMID: 26510264 [PubMed - indexed for MEDLINE]
Source: British Journal of Biomedical Science - December 2, 2015 Category: Laboratory Medicine Tags: Br J Biomed Sci Source Type: research