CC Grand Rounds: 1) Sequencing Approaches to Understand Diamond Blackfan Anemia Syndrome 2) Deficiency of ADA2 (DADA2): The Expanding Spectrum of Phenotypes of a Not-so-Rare Monogenic Autoinflammatory Disease

Date: Wednesday, 06 27, 2018; Speaker: David Bodine, MD, Chief and Senior Investigator, , Genetics and Molecular Biology Branch and Head, Hematopoiesis Section, , Hematopoiesis Section, NHGRI; Ivona Aksentijevich, MD, Associate Investigator,, Inflammatory Disease Section, Metabolic, Cardiovascular , and Inflammatory Disease Genomics Branch, NHGRI; Building: Building 10 (Clinical Center); Lipsett Amphitheater; CME Credit; Videocast Event
Source: NIH Calendar of Events - Category: American Health Source Type: events

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WEDNESDAY, Sept. 18, 2019 -- Anemia diagnosed during the first 30 weeks of pregnancy is associated with an increased risk for autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and intellectual disability (ID),...
Source: - Pharma News - Category: Pharmaceuticals Source Type: news
Half a million Swedish children and their mothers were studied. Anaemia was also linked to higher rates of intellectual disability.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Conditions:   Sickle Cell Disease;   Sickle Cell Anemia Interventions:   Other: Chart Review;   Other: Survey Sponsors:   Children's Hospital Medical Center, Cincinnati;   University of Connecticut;   University of Colorado, Denver;   Guy's and St. Thomas' Hospital;   Duke University;   Children's Hospital of Philadelphia Recruiting
Source: - Category: Research Source Type: clinical trials
Background: Andrographis paniculata, Bryophyllum pinnatum and Clitoria ternatea are the nutritionally adequate herbs that are easily accessible and low cost. The presence of phytochemicals makes them helpful in the management of various diseases specifically being diabetes, anemia and hypertension leading to prevention of heart diseases. Objective: Current investigation is aimed to determine the nutritional and phytochemical composition of leaves of Andrographis paniculata, Bryophyllum pinnatum and Clitoria ternatea. Methods: All the experiments were done according to standard procedures of the Association of Analytical Co...
Source: Current Nutrition and Food Science - Category: Nutrition Source Type: research
Conclusion: The significantly high increase in platelet count in the VMD treated rats, indicative of anemia and other physiological imbalances, highlights the effect of micronutrient (mineral and vitamins) deficiencies in the diet. There is also the possibility that the anti-nutrients factors present in Moringa oleifera prevented uptake and bioavailability of nutrients, since the MOLM did not undergo any processing that could have removed or reduced these antinutrients. Further studies are still needed on Moringa oleifera leaves to validate the bioavailability of nutrients from the plant.
Source: Current Nutrition and Food Science - Category: Nutrition Source Type: research
This cohort study examines whether maternal anemia during pregnancy is associated with risk of autism spectrum disorder, attention-deficit/hyperactivity disorder, and intellectual disability in youths.
Source: JAMA Psychiatry - Category: Psychiatry Source Type: research
This report reviews what is known regarding MLASA1 and describes two brothers with MLASA1 who were cared for over the course of 10 years at the University of California Los Angeles. The brothers suffered from chronic anemia, transfusion dependency and muscle wasting that lead to respiratory insufficiency and death in one of the brothers.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Publication date: October 2019Source: The Lancet Global Health, Volume 7, Issue 10Author(s): Kathryn Maitland, Peter Olupot-Olupot, Sarah Kiguli, George Chagaluka, Florence Alaroker, Robert O Opoka, Ayub Mpoya, Kevin Walsh, Charles Engoru, Julius Nteziyaremye, Machpherson Mallewa, Neil Kennedy, Margaret Nakuya, Cate Namayanja, Julianne Kayaga, Eva Nabawanuka, Tonny Sennyondo, Denis Aromut, Felistas Kumwenda, Cynthia Williams MusikaSummaryBackgroundSevere anaemia is a leading cause of paediatric admission to hospital in Africa; post-discharge outcomes remain poor, with high 6-month mortality (8%) and re-admission (17%). We ...
Source: The Lancet Global Health - Category: International Medicine & Public Health Source Type: research
AbstractPremature ovarian insufficiency (POI) is a major cause of reduced female fertility and affects approximately 1% women under 40  years of age. Recent advances emphasize the genetic heterogeneity of POI. Fanconi anemia (FA) genes, traditionally known for their essential roles in DNA repair and cytogenetic instability, have been demonstrated to be involved in meiosis and germ cell development. Here, we conducted whole-exome s equencing (WES) in 50 Han Chinese female patients with POI. Rare missense variants were identified inFANCA (Fanconi anemia complementation group A): c.1772G  >  A (p.R591Q) ...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
AbstractBackgroundAnemia and elevated red cell distribution width (RDW) or mean corpuscular volume (MCV) are associated with an adverse prognosis in patients with cardiovascular disease and critical illness. Limited data exist regarding these associations in unselected cardiac intensive care unit (CICU) patients.MethodsRetrospective cohort study of CICU patients between January 1, 2007, and December 31, 2015, with a hemoglobin (Hb) level measured at admission. Multivariable regression was performed to determine predictors of hospital mortality, and Kaplan –Meier analysis was used to determine post-discharge survival....
Source: Clinical Research in Cardiology - Category: Cardiology Source Type: research
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