Results 21 to 30 of about 2,781 (251)

Distribution of hemoglobinopathies in patients presenting for electrophoresis and comparison of result with High performance liquid chromatography

open access: yesJournal of Pathology of Nepal, 2015
Background: Nearly 226 million carriers of thalassemias and abnormal hemoglobin are present worldwide according to the World Health Organization (WHO). The laboratory plays an important role in the investigation of the thalassemias and hemoglobinopathies.
R Jha
doaj   +1 more source

Thalassemias: An Overview

open access: yesInternational Journal of Neonatal Screening, 2019
Thalassemia syndromes are among the most serious and common genetic conditions. They are indigenous in a wide but specific geographical area. However, through migration they are spreading across regions not previously affected. Thalassemias are caused by
Michael Angastiniotis, Stephan Lobitz
doaj   +1 more source

Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review

open access: yesFrontiers in Pediatrics, 2022
Thalassemias are a group of inherited blood disorders that affects 5–7% of the world population. Comprehensive screening strategies are essential for the management and prevention of this disorder.
Syahirah Amnani Suhaimi   +3 more
doaj   +1 more source

Phosphaturia in Thalassemia

open access: yesPediatrics, 1976
Thirteen phosphorus balances were performed in four thalassemic children aged 6 to 10 years. No correlation was found between phosphorus intake and serum level or between phosphorus intake and net absorption. There was a positive correlation among daily phosphorus intake, net absorption, and 24-hour urinary excretion.
Lapatsanis, P.   +4 more
openaire   +3 more sources

PREGNANCY IN THALASSEMIA

open access: yesMediterranean Journal of Hematology and Infectious Diseases, 2019
Therapeutic advances, including the availability of oral iron chelators and new non-invasive methods for early detection and treatment of iron overload, have significantly improved the life expectancy and quality of life of patients with thalassemia, with a consequent increase in their reproductive potential and desire to have children.
Raffaella Origa, Federica Comitini
openaire   +4 more sources

Recent advances in β-thalassemias

open access: yesPediatric Reports, 2011
β-thalassemias, a group of autosomal recessive disorders resulting from reduced or absent production of β-globin chains from the β-globin locus, are very heterogeneous at the molecular level (for review see Weatherall & Clegg, 2001 and Cao & Galanello).1-
Antonio Cao, Paolo Moi, Renzo Galanello
doaj   +1 more source

Pre-implantation Genetic Diagnosis of Thalassemias

open access: yesThai Journal of Obstetrics and Gynaecology, 2018
Beta-Thalassemia major, beta-thalassemia-Hb E disease and Hb Bart’s disease are severe hereditary anemia which are prevalent in Thailand and neighborhood countries.
Wirawit Piyamongkol
doaj   +1 more source

EDNRB‐dependent endothelin signaling reduces proliferation and promotes proneural‐to‐mesenchymal transition in gliomas

open access: yesMolecular Oncology, EarlyView.
Glioma cells mainly express the endothelin receptor EDNRB, while EDNRA is restricted to a perivascular tumor subpopulation. Endothelin signaling reduces glioma cell proliferation while promoting migration and a proneural‐to‐mesenchymal transition associated with poor prognosis. This pathway activates Ca2+, K+, ERK, and STAT3 signalings and is regulated
Donovan Pineau   +36 more
wiley   +1 more source

Management of the Thalassemias [PDF]

open access: yesCold Spring Harbor Perspectives in Medicine, 2013
During the last 30 years, in addition to the considerable progress made in control and prevention of thalassemias(3), there have also been major advances in their symptomatic management, at least in wealthier countries where appropriate facilities are available.
Nancy F, Olivieri, Gary M, Brittenham
openaire   +2 more sources

Chromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities

open access: yesAdvanced Science, EarlyView.
ABSTRACT Glioblastoma, the most aggressive and lethal form of brain cancer, is defined by profound genomic instability, with Chromosomal Instability (CIN) playing a central role in driving tumor progression, therapy resistance, and poor prognosis. CIN is characterized by numerical and structural alterations, is driven by mechanisms such as mitotic ...
Amarnath Pal   +3 more
wiley   +1 more source

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