China
Africa
Explore chapters and articles related to this topic
Amino acid disorders and urea cycle disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
There are other forms of homocystinuria that are caused by the following enzyme deiciencies: methylene tetrahydrofolate reductase deficiencya defect in either cobalamin E or cobalamin G that causes methylcobalamin deficiencya defect in either cobalamin C, cobalamin D or cobalamin F that causes a deficiency in both adenosylcobalamin and methylcobalamin, leading to combined methyl-malonic acidaemia and homocystinuria.
Recurrent Pregnancy Loss
Published in Steven R. Bayer, Michael M. Alper, Alan S. Penzias, The Boston IVF Handbook of Infertility, 2017
Benjamin Lannon, Alison E. Zimon
The decision to include screening for inheritable thrombophilias in RPL is not straightforward. Causality between these conditions and adverse pregnancy outcomes early in gestation has not been established and the cost-effectiveness of ordering the thrombophilia testing panel in the RPL evaluation is questionable. Based on current opinions from ASRM and ACOG (American College of Obstetricians and Gynecologists), routine screening for inherited thrombophilias in women with RPL is not recommended. Nevertheless, one may consider inclusion of this laboratory screening in RPL, particularly when additional risk factors for coagulapathy are supported by the patients’ personal or familial history or in patients with recurrent late fetal loss (>10 weeks) or with evidence of placental ischemia, infarction, or thrombosis. Testing should be limited to screening for abnormalities associated with thromboembolic events, and these include testing for Factor V Leiden gene mutation, prothrombin G20210A gene mutation, protein C and protein S deficiency via functional activity assays, and anti-thrombin III levels. Insufficient evidence exists to link hyperhomocysteinemia or methylene tetrahydrofolate reductase deficiency with RPL or VTE, and therefore testing for these is not currently recommended.
Rapid improvement in severe long COVID following perispinal etanercept
Published in Current Medical Research and Opinion, 2022
Edward Tobinick, Robert N. Spengler, Tracey A. Ignatowski, Manar Wassel, Samantha Laborde
The patient’s past medical history included mild asthma treated occasionally with an albuterol inhaler; seasonal allergic rhinitis; hypothyroidism treated with thyroid replacement; gastrointestinal reflux disease treated with pantoprazole; methylenetetrahydrofolate reductase deficiency treated with chronic methylfolate supplementation; post-hysterectomy bladder dysfunction treated with tamsulosin; hypertriglyceridemia; obesity; chronic neck, upper back and mid-back pain; a history of a carcinoid tumor of the appendix that was surgically removed; and a history of repeated nephrolithiasis. There was no history of pre-existing cognitive dysfunction, fatigue, depression or other psychiatric disorder, drug or alcohol abuse, smoking, head trauma, immunosuppression, autoimmune disease, tuberculosis or a positive test for latent tuberculosis, or frequent infection.