Results 71 to 80 of about 38,246 (331)
Flowcytometric assessment of fetomaternal hemorrhage during external cephalic version at term [PDF]
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
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
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
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]
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
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
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]
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]
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

