Results 81 to 90 of about 88,496 (299)

Growth and Pubertal Development in Children With Sickle Cell Anaemia at Muhimbili National Hospital 2010 [PDF]

, 2011
Sickle cell anaemia (SCA) is a genetic disorder with multisystem manifestations. Paediatricians and general practitioners dealing with these patients need to know the overview of the genetics, diagnosis, clinical manifestations, and treatment of sickle ...
Jacob, Theopista
core  

SURMOUNT‐REAL UK: A Pragmatic Randomized Clinical Trial to Assess the Effectiveness of Tirzepatide in Adults With Obesity

Obesity, EarlyView.
ABSTRACT Objective SURMOUNT‐REAL UK will evaluate the effectiveness of tirzepatide when offered in addition to standard‐of‐care (SoC) in adults with Class I obesity (BMI ≥ 30 and ≤ 34.9 kg/m2) and without diabetes in a UK primary care setting. Methods A 5‐year, phase 4, multicenter, open‐label, pragmatic randomized clinical trial is enabled through ...
Martin K. Rutter, Julie Mount, J. Martin Gibson, Joanne Webb, Cheryl Marler, Catherine Reed, Mugdha Gore, Wenyu Ye, Elisa Gomez Valderas, John Wilding, Naveed Sattar, Melanie J. Davies, Kamlesh Khunti, Richard Haynes, Rachel L. Batterham   +14 more
wiley   +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

Prenatal 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, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Targeting the Non-catalytic RVxF Site of Protein Phosphatase-1 With Small Molecules for Ebola Virus Inhibition

Frontiers in Microbiology, 2019
Ebola virus (EBOV) is a non-segmented negative-sense RNA virus that causes a severe human disease. The ongoing EBOV outbreak in the Eastern part of Democratic Republic of the Congo has resulted to date in over 2500 confirmed cases including over 1500 ...
Xionghao Lin, Xionghao Lin, Tatiana Ammosova, Tatiana Ammosova, Tatiana Ammosova, Meng S. Choy, Colette A. Pietzsch, Andrey Ivanov, Asrar Ahmad, Yasemin Saygideğer, Namita Kumari, Dmytro Kovalskyy, Aykut Üren, Wolfgang Peti, Alexander Bukreyev, Sergei Nekhai, Sergei Nekhai   +16 more
doaj   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

SICKLE CELL DISEASE [PDF]

British Journal of Haematology, 1981
openaire   +4 more sources

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

Prenatal 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, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Natural History of Chronic Kidney Disease in Sickle Cell Disease. [PDF]

Am J Hematol
ABSTRACT Kidney complications, referred to as nephropathy, develop early in sickle cell disease (SCD). In addition to its known morbidity, abundant data show that chronic kidney disease (CKD) is associated with an increased mortality risk in SCD. Increasing evidence suggests that the natural history of SCD nephropathy is progressive. Initial glomerular
Ataga KI.
europepmc   +2 more sources

The Sickle Cell Disease Ontology: Enabling universal sickle cell-based knowledge representation

, 2020
© The Author(s) 2019. Sickle cell disease (SCD) is one of the most common monogenic diseases in humans with multiple phenotypic expressions that can manifest as both acute and chronic complications.
Sickle Cell Disease Ontology Working Group
core   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source