Alpha-thalassemia. Case report alpha-thalassemia in a Costa Rican family, A case report. [PDF]
Clin Case Rep, 2021 AbstractThis case report highlights the importance for health care providers to be aware of the αlpha‐thalassemia syndromes, their relevance to clinical care and family counseling, appropriate diagnostic algorithm for definitive diagnosis.
Solano-Vargas M +2 more
europepmc +7 more sources
Alpha thalassemia genotypes in Kuwait. [PDF]
BMC Med Genet, 2020 Abstract Background: The frequency of alpha thalassemia trait is about 40% in the Kuwaiti population, but there has been no comprehensive study of the prevalent alleles. This is a report of the patients who were referred for molecular diagnosis over a 20-year period.Methods: This is a retrospective study of the a-globin genotypes obtained in ...
Adekile A +4 more
europepmc +5 more sources
Nutritional status of young children with inherited blood disorders in western Kenya. [PDF]
, 2014 To determine the association between a range of inherited blood disorders and indicators of poor nutrition, we analyzed data from a population-based, cross-sectional survey of 882 children 6–35 months of age in western Kenya.
Ruth, LJ +4 more
core +1 more source
Prevalence of Inherited Hemoglobin Disorders and Relationships with Anemia and Micronutrient Status among Children in Yaoundé and Douala, Cameroon. [PDF]
, 2017 Information on the etiology of anemia is necessary to design effective anemia control programs. Our objective was to measure the prevalence of inherited hemoglobin disorders (IHD) in a representative sample of children in urban Cameroon, and examine the ...
Brown, Kenneth H +8 more
core +1 more source
A case of recurrent epilepsy-associated rosette-forming glioneuronal tumor with anaplastic transformation in the absence of therapy. [PDF]
, 2019 Rosette-forming glioneuronal tumor (RGNT) most commonly occurs adjacent to the fourth ventricle and therefore rarely presents with epilepsy. Recent reports describe RGNT occurrence in other anatomical locations with considerable morphologic and genetic ...
Corless, Christopher L +14 more
core +1 more source
Models of preconception care implementation in selected countries. [PDF]
, 2006 Globally, maternal and child health faces diverse challenges depending on the status of the development of the country. Some countries have introduced or explored preconception care for various reasons.
Delvoye, Pierre +5 more
core +2 more sources
Hypoxia in the Initiation and Progression of Neuroblastoma Tumours [PDF]
, 2020 Neuroblastoma is the most frequent extracranial solid tumour in children, causing 10% of all paediatric oncology deaths. It arises in the embryonic neural crest due to an uncontrolled behaviour of sympathetic nervous system progenitors, giving rise to ...
Gómez Muñoz, María Ángeles +3 more
core +1 more source
A human complement receptor 1 polymorphism that reduces Plasmodium falciparum rosetting confers protection against severe malaria [PDF]
, 2003 Parasitized red blood cells (RBCs) from children suffering from severe malaria often adhere to complement receptor 1 (CR1) on uninfected RBCs to form clumps of cells known as "rosettes." Despite a well documented association between rosetting and severe ...
A. O'Donnell +49 more
core +2 more sources
Alpha-thalassemia in two Mediterranean populations [PDF]
Blood, 1982 Abstract We used restriction endonuclease analysis to determine the incidence of alpha-thalassemia in two Mediterranean islands. In a random population sample, the gene frequency of deletion-type alpha-thalassemia-2 (- alpha) was 0.18 in Sardinians and 0.07 in Greek Cypriots. All cases were the rightward crossover type.
PIRASTU M +10 more
openaire +4 more sources
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