She remained haemodynamically stable, with complete resolution of neurological symptoms and evolution to subacute myocardial infarction. Conclusions: The particularity of our case is represented by symultaneous thromboembolic events causing myocardial infarction and ischemic stroke in a patient with a history...
MTHFR mutationhypercoagulablevenogramThoracic outlet syndrome can present with a wide variety of upper extremity neurovascular symptoms. Timely clinical ... PEGJM Carpenetti - 《Jaapa Official Journal of the American Academy of Physician Assistants》 被引量: 0发表: 2018年 ...
Celiac disease (CD) is frequently associated with neurological disorders, but very few reports concern the association with ischemic stroke. A 26-year-old woman affected by CD with secondary amenorrhea, carrier of a homozygous 5,10-methylenetetrahydrofolate reductase mutation with hyperhomocysteinemia,...
Background:Opioid Use Disorder (OUD) has been linked to dopamine and the neurological reward centers. Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in the production of many neurotransmitters such as dopamine. As such, MTHFR variants that lead to decreased production of neurotransmi...
Aim: Remethylation disorders such as 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency reduce the remethylation of homocysteine to methionine. The resulting hyperhomocysteinemia can lead to serious neurological consequences and multisystem toxicity. The role ofMTHFRgenotypes has not been investigate...
SYMPTOMSNEWBORN screeningBackground: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop neurological disorders and ...
The resulting hyperhomo- cysteinemia can lead to serious neurological consequences and multisystem toxicity. The role of MTHFR genotypes has not been investigated in patients with Rett Syndrome (RTT). In this study, we sought to assess the impact of co-occurring MTHFR genotypes on symptom profiles...
combined mutations should not be overlooked as they are mainly associated with tumors, infertility in males, endometriosis, and neurological disorders [7,18]. MTHFR gene polymorphisms, when associated to FVL heterozygous variants, increased the risk of arterial ischemic stroke in young Tunisian adults ...
CVT presents with a wide spectrum of manifestations. The most common presenting symptom is headache, and other associated symptoms and signs are seizures, focal neurological deficits, papilloedema and impaired consciousness. The clinical picture is determined by the age of patient, site of CVT and ...