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ST-elevation myocardial infarction, pulmonary embolism, and cerebral ischemic stroke in a patient with critically low levels of natural anticoagulants
Publication date: Available online 22 November 2019Source: Journal of Cardiology CasesAuthor(s): Elena Vladimirovna Reznik, Ekaterina Sergeevna Shcherbakova, Svetlana Vasilievna Borisovskaya, Yurij Valerevich Gavrilov, Tatyana Mikhailovna Pajeva, Sergey Vladislavovich Lepkov, Aleksej Borisovich Mironkov, Eliso Murmanovna Dzhobava, Igor Gennadievich NikitinAbstractThis clinical case report describes the simultaneous development of an acute myocardial infarction, stroke, and a massive pulmonary thromboembolism in a 44-year-old patient — a carrier of the thrombophilia gene polymorphisms: MTHFR C677T, А1298C, PAI-1 4G/5G, I...
Source: Journal of Cardiology Cases - November 23, 2019 Category: Cardiology 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

A True Hematologic Emergency
​BY GREGORY TAYLOR, DO, & JACKLYN M​CPARLANE, DO​A 33-year-old woman with a past medical history of sickle cell SS presented to the emergency department with chest pain, difficulty breathing, and a cough for two days. Her chest pain was diffuse, without radiation, and partially reproducible. Her cough was nonproductive, and she also reported fever and chills.The patient noted this was different from her normal back and leg pain from past sickle cell crises. She was following up with a sickle cell specialist, and was compliant with her hydroxyurea treatment.Her temperature was 102.8°F, blood pressure was 94/60 mm...
Source: The Case Files - June 26, 2018 Category: Emergency Medicine Tags: Blog Posts Source Type: research

Elevated Homocysteine Concentrations Decrease the Antihypertensive Effect of Angiotensin-Converting Enzyme Inhibitors in Hypertensive Patients.
CONCLUSIONS: Elevated Hcy concentrations significantly decreased the antihypertensive effect of the short-term and long-term enalapril-based antihypertensive treatment in previously untreated hypertensive patients. PMID: 27834686 [PubMed - as supplied by publisher]
Source: Arteriosclerosis, Thrombosis and Vascular Biology - November 9, 2016 Category: Cardiology Authors: Qin X, Li Y, Sun N, Wang H, Zhang Y, Wang J, Li J, Xu X, Liang M, Nie J, Wang B, Cheng X, Li N, Sun Y, Zhao L, Wang X, Hou FF, Huo Y Tags: Arterioscler Thromb Vasc Biol Source Type: research

Interventions for lowering plasma homocysteine levels in dialysis patients.
CONCLUSIONS: Homocysteine-lowering therapies were not found to reduce mortality (cardiovascular and all-cause) or cardiovascular events among people with ESKD. PMID: 27243372 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - May 30, 2016 Category: Journals (General) Authors: Nigwekar SU, Kang A, Zoungas S, Cass A, Gallagher MP, Kulshrestha S, Navaneethan SD, Perkovic V, Strippoli GF, Jardine MJ Tags: Cochrane Database Syst Rev Source Type: research

A Case of Transient Global Amnesia: A Review and How It May Shed Further Insight into the Neurobiology of Delusions
Conclusion In closing, our patient’s episode of TGA combined with her emotional and perceptual response lends credence to the proposal of a “fear/paranoia” circuit in the genesis of paranoid delusions—a circuit incorporating amygdala, frontal, and parietal cortices. Here, neutral or irrelevant stimuli, thoughts, and percepts come to engender fear and anxiety, while dysfunction in frontoparietal circuitry engenders inappropriate social predictions and maladaptive inferences about the intentions of others.[54] Hippocampus relays information about contextual information based on past experiences and the current situat...
Source: Innovations in Clinical Neuroscience - April 1, 2016 Category: Neuroscience Authors: ICN Online Editor Tags: Anxiety Disorders Behavioral and Cognitive Neurology Case Report Cognition Current Issue Dementia Medical Issues Neurologic Systems and Symptoms Psychiatry Schizophrenia delusions hippocampus neurobiology Transient global amnesia Source Type: research

Multidisciplinary approach and anesthetic management of a surgical cancer patient with methylene tetrahydrofolate reductase deficiency: a case report and review of the literature
Conclusions Neoplastic disease and related surgery followed by the administration of chemotherapeutic drugs alter the hemostatic balance in cancer patients. Those suspected of also having a thrombophilic disease require a thorough laboratory diagnostic workup, including a molecular analysis aimed at identifying the genetic mutation responsible for the hyperhomocysteinemia, as indicated. The case described in this report highlights the importance of a multidisciplinary approach that includes expertise in peri-operative anesthesia, surgery, oncology, and hematology.
Source: Journal of Medical Case Reports - August 20, 2015 Category: Journals (General) Source Type: research

Homocysteine, Ischemic Stroke, and Coronary Heart Disease in Hypertensive Patients: A Population-Based, Prospective Cohort Study Clinical Sciences
Conclusions— Hyperhomocysteinemia in Chinese hypertensive patients is significantly associated with IS risk but not coronary heart disease susceptibility, and folic acid supplementation can efficiently reduce tHcy levels.
Source: Stroke - June 22, 2015 Category: Neurology Authors: Han, L., Wu, Q., Wang, C., Hao, Y., Zhao, J., Zhang, L., Fan, R., Liu, Y., Li, R., Chen, Z., Zhang, T., Chen, S., Ma, J., Liu, S., Peng, X., Duan, S. Tags: Myocardial cardiomyopathy disease, Valvular heart disease, Clinical Studies, Acute Cerebral Hemorrhage, Cerebral Venous Thrombosis Clinical Sciences Source Type: research