Results 81 to 90 of about 5,627,179 (327)
Craniofacial Characteristics of Thalassemia Major Patients.
Eurasian Journal of Medicine, 2017 OBJECTIVE Thalassemias major are the most common autosomal recessive disorders; they are characterized by anomalies in the synthesis of the beta chains of hemoglobin and are often associated with varying degrees of craniofacial anomalies.
S. Karakaş +5 more
semanticscholar +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Evaluation of QT interval in β thalassemia major patients in comparison with control group
Heart Views, 2012 Background: Cardiac complications are the primary cause of death in patients with b thalassemia major. QTc interval is an indicator of variability of ventricular repolarization and is supposed to be prominent in high risk patients.
Behzad Farahani +3 more
doaj +1 more source
Effect of zinc supplementation on serum mlondealdehyde and lipid profiles on beta thalassemia major patients [PDF]
, 2012 Objectives: Thalassemic patients are seriously at risk of serum dislipidemia, zinc deficiency and tissue damage due to oxidative stress induced by iron storage.
Aboomardani, M. +3 more
core
Hematology/Oncology and Stem Cell Therapy, 2017 Thalassemia is the most common monogenic hematologic disease that affects millions in the world and kills thousands of patients every year. Without transfusion or transplantation, patients with thalassemia major are expected to die within months of diagnosis.
openaire +2 more sources
Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman +6 more
wiley +1 more source
Genetic Disease Burden, Nutrition and Determinants of Tribal Health Care in Chhattisgarh State of Central-East India: A Status Paper [PDF]
, 2011 Tribal health is an important aspect of development and progress of the people. This study pertaining to genetic disease burden, nutritional status and biomedical anthropological assessment with particular reference to determinants of tribal health care ...
Balgir, RS
core +1 more source
The human ankyrin 1 promoter insulator sustains gene expression in a β-globin lentiviral vector in hematopoietic stem cells. [PDF]
, 2015 Lentiviral vectors designed for the treatment of the hemoglobinopathies require the inclusion of regulatory and strong enhancer elements to achieve sufficient expression of the β-globin transgene.
Baldwin, Kismet M +12 more
core +4 more sources
Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives
Pediatric Investigation, EarlyView.Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley +1 more source