Results 31 to 40 of about 25,718 (237)

The Virginia Sickle Cell Anemia Awareness Program: Education, Screening, and Counseling [PDF]

open access: yes, 1977
In 1968, a program of screening for sickle trait carriers was begun as part of the work of the Hematology Division, Department of Medicine, at the Medical College of Virginia.
Cooper, Florence N., Scott, Robert B.
core   +1 more source

Technical and Legal Aspects of a German Pilot Study with 38,220 Participants [PDF]

open access: yes, 2014
Sickle cell disease (SCD) does not occur in the indigenous German population, but with the increasing number of immigrants from countries at high risk for hemoglobinopathies, the question emerges whether or not a newborn screening program (NBS) for SCD ...
Blankenstein, Oliver   +4 more
core   +1 more source

Oral Cryptococcosis due to Naganishia diffluens in a Patient With Thalassemia: A Case Report and a Literature Review

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Naganishia diffluens, a rare non‐neoformans cryptococcal species, was identified by PCR sequencing as the causative agent of oral cryptococcosis in a 31‐year‐old Iranian man with β‐thalassemia. This case represents the first documented instance of oral infection by N.
Zahra Yahyazadeh   +13 more
wiley   +1 more source

A Lucky Mistake: The Splenic Glands of Marcello Malpighi [PDF]

open access: yes, 2017
PURPOSE OF THE REVIEW: More than 50% of all gynaecological cancers can be classified as rare tumours (defined as an annual incidence of
Chaviano, Felicia   +3 more
core   +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

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear   +6 more
wiley   +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

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

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

open access: yesPrenatal 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

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