Results 71 to 80 of about 158,916 (259)

High‐Altitude Hypoxemia in Adults With Sickle Cell Disease (SCD)

open access: yes
American Journal of Hematology, EarlyView.
Mofiyin A. Obadina   +4 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

PB2240: SILENT GLOBIN MUTATIONS. 10 YEARS REFERRALS FOR GENETIC COUNSELING.

open access: yesHemaSphere, 2022
S. Theodoridou   +7 more
doaj   +1 more source

BUSM News and Notes [PDF]

open access: yes, 1993
Monthly newsletter providing updates of interest to the Boston University School of Medicine ...
Boston University School of Medicine Office of Informational Services
core  

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

PB2541: RARE CAP +41 TO +44 [HBB:C.11_-8DELAAAC]/NI MUTATION IN THE 5;UTR OF THE Β GLOBIN GENE IN A GREEK MALE AND GENETIC COUNSELING.

open access: yesHemaSphere, 2023
Stamatia Theodoridou   +6 more
doaj   +1 more source

PAIN MANAGEMENT IN PATIENTS WITH SICKLE CELL DISEASE – A REVIEW [PDF]

open access: yesEuropean Medical Journal Hematology, 2013
Pain is defined, by the International Association for the Study of Pain (IASP), as an ‘unpleasant sensitive and emotional experience, associated with or described in terms of tissue lesion’.
Sophia Delicou, Konstantinos Maragkos
doaj  

Study of Pregnancy Outcome in E-Beta Thalassaemia Mothers [PDF]

open access: yes, 2009
Forty eight E-Beta thalassaemia patients were studied in NRS Medical College, Kolkata, West Bengal during the period from 2000-2006. In all patients Hb% ranged from 5.2g% - 9.6g%.
Bhattacharyaya, Maitryaee   +1 more
core   +1 more source

Randomized phase 2 trial of regadenoson for treatment of acute vaso-occlusive crises in sickle cell disease [PDF]

open access: yes, 2017
Key Points Regadenoson did not reduce iNKT cell activation to a prespecified level when administered to patients with SCD. Because iNKT cell activation was not reduced, the benefit of iNKT cell-based therapies in SCD cannot be determined.
Achebe, Maureen   +14 more
core   +2 more sources

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde   +4 more
wiley   +1 more source

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