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 methionine level, high homocysteine level, homocystinuria, and hyperhomocysteinemia (1, 2). MTHFR gene is responsible for the assembly of MTHFR enzyme, which plays a very important role in the catalysis of 5,10-methyltetrahydrofolate (THF) to 5-methyltetrahydrofolate (an NADPH-dependent irreversible reduction) to obtain methionine from homocysteine (Supplementary Figure 1). Methyl THF is the most common form of folate in tissues and the plasma and serves as the methyl group donor in the methyl THF-homocysteine S-methyltransferase reaction involving remethylation of homocysteine to methionine (3). The deficiency of MTHFR enzyme causes an increase in the concentration of homocysteine and methionine, resulting in severe neurological phenotypes. Patients having neonatal onset (i.e., early onset 99% of regions in the consensus coding sequence, RefSeq, and Gencode data...
Source: Frontiers in Neurology - Category: Neurology Source Type: research

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Publication date: Available online 17 September 2019Source: Orthopaedics &Traumatology: Surgery &ResearchAuthor(s): Yacine Carlier, Hubert Lenoir, Dominique M. Rouleau, Pierre Mansat, Anne Vidil, Matthieu Ferrand, Rémy Bleton, Olivier Herrisson, Vincent Salabi, Fabrice Duparc, François Kelberine, Pierre Desmoineaux, The French Arthroscopy Society (SFA)AbstractIntroductionOsteoarthritis is the second most frequent cause of elbow stiffness, after trauma sequelae. Surgical treatment mainly consists of debridement. The main aim of the present study was to assess the efficacy of arthroscopic treatment of o...
Source: Orthopaedics and Traumatology: Surgery and Research - Category: Orthopaedics Source Type: research
Publication date: Available online 4 September 2019Source: Progress in Retinal and Eye ResearchAuthor(s): M. Elizabeth Fini, Shinwu Jeong, Haiyan Gong, Rafael Martinez-Carrasco, Nora M.V. Laver, Minako Hijikata, Naoto Keicho, Pablo ArgüesoAbstractThe mucosal glycocalyx of the ocular surface constitutes the point of interaction between the tear film and the apical epithelial cells. Membrane-associated mucins (MAMs) are the defining molecules of the glycocalyx in all mucosal epithelia. Long recognized for their biophysical properties of hydration, lubrication, anti-adhesion and repulsion, MAMs maintain the wet ocular su...
Source: Progress in Retinal and Eye Research - Category: Opthalmology Source Type: research
Publication date: Available online 17 September 2019Source: European Journal of Obstetrics &Gynecology and Reproductive BiologyAuthor(s): Virginia Benito, Amina Lubrano, Miguel Andújar, Marta Mori, Mario FedericoAbstractObjectiveThe goal of this study was to evaluate the demographic characteristics, pathology, treatment, prognostic factors and survival rates in elderly patients with endometrial cancer, and to compare their results with those of younger ones, in order to define the specific characteristics of this malignancy in this population.Study design: Retrospective analysis of all endometrial cancer patient...
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
ConclusionsIntrauterine Bigatti Shaver® is a feasible technique for placental remnants removal. Further studies comparing various surgical treatment are needed to define which technique is the safest and completely remove placental remnants.
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
Source: BMJ Comments - Category: General Medicine Source Type: forums
In this study, the trends of risk factors and macrovascular complications were examined in patients with DM in Taiwan.MethodsHealth care information and International Classification of Diseases, Ninth Revision diagnostic codes were retrieved from the Taiwan Bureau of National Health Insurance claims files between 2005 and 2014. Using these data, the number of cases and annual prevalence of diabetic macrovascular complications in individuals with DM were stratified by age and sex.ResultsThe prevalence of DM with either stroke or cardiovascular disease (CVD) showed a decreasing trend in enrolled patients with DM (p for trend 
Source: Journal of the Formosan Medical Association - Category: General Medicine Source Type: research
Source: BMJ - Category: General Medicine Source Type: research
ConclusionsPreoperative periosteal reaction is a predictor of a poor outcome after surgical treatment for MRONJ. Clinicians should consider complete resection of the bone showing periosteal reaction.
Source: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology - Category: ENT & OMF Source Type: research
Publication date: October 2019Source: Canadian Journal of Diabetes, Volume 43, Issue 7, SupplementAuthor(s): Gail Macneill, Sabrina Agostini, Victoria Antoniu
Source: Canadian Journal of Diabetes - Category: Endocrinology Source Type: research
Publication date: October 2019Source: Canadian Journal of Diabetes, Volume 43, Issue 7, SupplementAuthor(s): David Campbell, Rachel Campbell, Gillian L. Booth, Stephen Hwang, Kerry Mcbrien
Source: Canadian Journal of Diabetes - Category: Endocrinology Source Type: research
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