Results 41 to 50 of about 140,103 (295)
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
BMC Public Health, 2021 Background Thalassemia, an inherited hemoglobin disorder, has become a global public health problem due to population migration. Evidence-based strategies for thalassemia prevention in migrants are lacking.
Julia Z. Xu +6 more
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng +8 more
wiley +1 more source
Time to Do Something for Vitamin D Deficiency; A Review
Journal of Pediatrics Review, 2015 Context: Vitamin D deficiency is a common nutritional disorder in Iran. Vitamin D is an essential health factor from birth onward. This study was conducted to summarize epidemiologic researches regarding vitamin D deficiency in different parts of the ...
Mehrnoush Kosaryan +3 more
doaj +3 more sources
BMEMat, EarlyView.Multifunctional nano‐networks (NNWs) are prepared via reaction‐induced self‐assembly (RISA) of spermidine (SPD), epigallocatechin gallate (EGCG), 2‐formylphenylboronic acid (2‐FPBA), and deferoxamine (DFO) through dynamic iminoboronate bonds. These NNWs leverage the oxidative AKI microenvironment to trigger disintegration, enabling site‐specific ...
Juan Jin +17 more
wiley +1 more source
International Journal of Hematology-Oncology and Stem Cell Research, 2012 While thalassemia major (TM) used to be a prevalent genetic disease in the past, however, Phenylketonuria (PKU) is quite rare in spite of consanquiness marriage rate of about 40% in the region. Preventive efforts for TM started >20 years ago but neonatal
Hossein Karami +5 more
doaj
Treatment Status of Patients with Β-Thalassemia Major in Northern Iran: Thalassemia Registry System
Iranian Journal of Public Health, 2019 Background: Electronic registry system of beta-thalassemia patients was run by Thalassemia Research Center (TRC) in 2017. The aim of the current study was presentation of therapeutic status in these patients at Mazandaran Province, Iran.
Mehrnoush KOSARYAN +5 more
doaj +1 more source
Canadian Medical Association Journal, 2020 Hayley, Merkeley, Lauren, Bolster
openaire +2 more sources
Food Chemistry International, EarlyView.After collecting Musa paradisiaca leaves, some were dried and others were used to produce aqueous extracts. The extracts and powders were characterized and then administered to rats made anaemic by PHZ. After 14 days of administration of the two samples, the rats were euthanized and it was observed that after 9 days of treatment, the aqueous extract ...
Josée Rebeca Nombo +8 more
wiley +1 more source
Validation of Gazelle Microchip Electrophoresis for Premarital Hemoglobinopathy Screening in Türkiye. [PDF]
EJHaemABSTRACT Introduction Hemoglobinopathies, the most prevalent recessive monogenic disorders globally, encompass thalassemia syndromes and structural hemoglobin variants, affecting approximately 5% of the world's population as carriers, with around 315,000 affected births annually.
Canatan D +8 more
europepmc +2 more sources