Unique Characteristics of the X Chromosome and Related Disorders

This article reviews these unique characteristics and applies their guiding principles in a broad overview to Klinefelter syndrome, ornithine transcarbamylase (OTC) deficiency, hemophilia, and fragile X syndrome.
Source: NeoReviews recent issues - Category: Pediatrics Authors: Tags: Pediatric Drug Labeling Update Articles Source Type: news

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Condition:   Haemophilic Pseudotumour Intervention:   Drug: Emicizumab Sponsors:   Indiana Hemophilia &Thrombosis  Center, Inc.;   Genentech, Inc. Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conditions:   Hypofibrinogenemia, Congenital;   Afibrinogenemia, Congenital;   Dysfibrinogenemia, Congenital Intervention:   Sponsors:   University Hospital, Geneva;   Swiss Hemophilia Network Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Publication date: Available online 17 April 2019Source: Biosensors and BioelectronicsAuthor(s): Seongjae Jo, Insu Kim, Wonseok Lee, Minwoo Kim, Joohyung Park, Gyudo Lee, Dae Sung Yoon, Jinsung ParkAbstractFibrinogen, which is a glycoprotein that circulates in the blood, plays various important biological roles, e.g., in blood coagulation, fibroblast proliferation, angiogenesis, and wound healing. Abnormal levels of fibrinogen in plasma have been identified as a key biomarker of a variety of disorders from cardiovascular diseases to hemophilia. Therefore, the development of a quantitative assay for fibrinogen in the blood h...
Source: Biosensors and Bioelectronics - Category: Biotechnology Source Type: research
[Cameroon Tribune] Sensitisation activities to commemorate the day end today in Yaounde.
Source: AllAfrica News: Health and Medicine - Category: African Health Source Type: news
In the first three months of 2019, Group sales rose 8% to CHF 14.8 billion. Sales in the Pharmaceuticals Division increased 10% to CHF 11.9 billion. Key growth drivers were the multiple sclerosis medicine Ocrevus and cancer medicines Perjeta and Tecentriq as well as the new haemophilia medicine Hemlibra.
Source: World Pharma News - Category: Pharmaceuticals Tags: Featured Roche Business and Industry Source Type: news
Publication date: Available online 16 April 2019Source: The Lancet HaematologyAuthor(s): Margaret V Ragni
Source: The Lancet Haematology - Category: Hematology Source Type: research
Publication date: Available online 16 April 2019Source: The Lancet HaematologyAuthor(s): Steven W Pipe, Midori Shima, Michaela Lehle, Amy Shapiro, Sammy Chebon, Katsuyuki Fukutake, Nigel S Key, Agnès Portron, Christophe Schmitt, Maria Podolak-Dawidziak, Nives Selak Bienz, Cedric Hermans, Avrita Campinha-Bacote, Anna Kiialainen, Kathelijne Peerlinck, Gallia G Levy, Victor Jiménez-YusteSummaryBackgroundEmicizumab, a subcutaneously administered, humanised, bispecific, monoclonal antibody, is approved to treat people with haemophilia A of all ages with and without coagulation factor VIII (FVIII) inhibitors. HAVEN...
Source: The Lancet Haematology - Category: Hematology Source Type: research
On World Hemophilia Day April 17th, the global bleeding disorders community unites to raise awareness and understanding of hemophilia and areas of unmet needs for patients. Hemophilia is a rare, genetic bleeding disorder in which the ability of a person's blood to clot is impaired, which can lead to bleeding episodes that can cause pain, irreversible joint damage, and life-threatening hemorrhages.
Source: World Pharma News - Category: Pharmaceuticals Tags: Featured Sanofi Business and Industry Source Type: news
Conclusions: Despite the research of literature has produced few results, it was nevertheless possible to draw up a guideline thanks to additional information extrapolated from textbooks and other scientific articles. According to the guidelines, it is possible to proceed to the treatment of these patients, if with appropriate therapy in a safe and risk-free manner.
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
Conclusion In Table 1, an overview is presented of the complex roles of AAs described in this review regarding the microbiome-gut-immune-brain axis in ASD. Besides behavioral deficits, people with ASD are characterized by systemic inflammation, gastrointestinal immune-related disturbances and changes in the gut microbiota composition. Moreover, differences in levels of specific AAs in various body compartments, including the intestinal tract, blood, urine and brain have been reported in patients with ASD, as well as in rodent models for ASD. This review described that specific AAs can modulate the intestinal epithelial im...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
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