Results 71 to 80 of about 38,246 (331)

Flowcytometric assessment of fetomaternal hemorrhage during external cephalic version at term [PDF]

open access: yes, 2008
External cephalic version (ECV) at term is a safe procedure and reduces the incidence of cesarean sections for breech presentation. One of the known complications, however, is an ECV-related disruption of the placental barrier and a subsequent ...
Friese, Klaus   +6 more
core   +2 more sources

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson   +3 more
wiley   +1 more source

Role of novel and rare nucleotide substitutions of the β-globin gene

open access: yesThalassemia Reports, 2012
The Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies at the Villa Sofia-Cervello Hospital in Palermo, Italy, carries out an intensive screening program aimed at identifying the healthy carriers of thalassemia and, consequently, the ...
Margherita Vinciguerra   +6 more
doaj   +1 more source

Significance of the mathematically calculated red cell indices in patients with qualitative and quantitative hemoglobinopathies

open access: yesThe Egyptian Journal of Internal Medicine, 2022
Background Hemoglobinopathies represent a set of inherited red blood cell (RBCs) disorders, characterized by abnormal hemoglobin molecule. They include qualitative and quantitative hemoglobinopathies, with a structurally abnormal globin chain in the ...
Heba A. Ahmed   +4 more
doaj   +1 more source

Sickle cell disease status among school adolescents and their tribal community in South Gujarat [PDF]

open access: yes, 2009
Objectives: to create awareness, to screen samples of school adolescents and then to reach their community through them by doing surveillance for sickle cell disease. Design: Field based cross-sectional study. Settings: St Xavier`s high school and Vanraj
Chudasama, Rajesh K   +3 more
core   +1 more source

Prediction of neutrophil nadir and recovery following paediatric haematopoietic cell transplantation with busulfan conditioning

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aims In haematopoietic cell transplantation (HCT), neutropenia resulting from myelosuppression is an expected endpoint following busulfan‐based conditioning. However, if prolonged, neutropenia can lead to complications like serious infection and death.
Beth Apsel Winger   +6 more
wiley   +1 more source

Prevalence of hemoglobinopathies in different regions and castes of Uttar Pradesh, India -A hospital based study

open access: yesAsian Journal of Medical Sciences, 2015
Background: Thalasemia and other hemoglobinopathies are found in all the states of India and their prevalence is quite variable. In Uttar Pradesh very few studies are found which explore the spectrum of hemoglobinopathies.
Pratima Verma
doaj   +1 more source

Genetic Disease Burden, Nutrition and Determinants of Tribal Health Care in Chhattisgarh State of Central-East India: A Status Paper [PDF]

open access: yes, 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

Ground state naïve pluripotent stem cells and CRISPR/Cas9 gene correction for β-thalassemia [PDF]

open access: yes, 2016
The β-thalassemias are a group of hereditary diseases caused by more than 300 mutations of the adult β-globin gene, leading to low or absent production of adult hemoglobin (HbA) (1-3).
Borgatti, Monica   +2 more
core   +1 more source

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