Results 81 to 90 of about 4,991,463 (296)

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

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

Sickle Cell Safari [PDF]

Blood, 1973
Abstract A narrative concerning mass screening of a large population at risk for sickle hemolobin, glucose-6-phosphate dehydrogenase deficiency, anemia, and lead poisoning is presented. At the time of writing, more than one-tenth of a black community totaling over 104,000 individuals have been tested.
openaire   +2 more sources

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

Hydroxyurea mobile directly observed therapy versus standard monitoring in patients with sickle cell anemia: a phase 2 randomized trial

Communications Medicine
Background Sickle cell anemia (SCA) prevalence remains high in sub-Saharan Africa. Long-term treatment with hydroxyurea (HU) increases survival, however, poor adherence to treatment could limit effectiveness.
Philip Sasi, Abel Makubi, Raphael Z. Sangeda, Mariam Y. Ngaeje, Bruno P. Mmbando, Joseph Soka, Caterina Rosano, Alex S. Magesa, Sharon E. Cox, Julie Makani, Enrico M. Novelli   +10 more
doaj   +1 more source

Systematic Yersinia enterocolitica in an iron overloaded and immunocompromised thalassemic patient

Microbiologia Medica, 2017
We report the case of a 43-year-old woman who presented with lower abdominal pain, maculopapular rash, arthritis of the left knee and left ankle joints, with a history of thalassemia and heavy iron overload.
Sophia Delicou, Aikaterini Petrocheilou, Myria Pougiouka, Konstantinos Maragkos   +3 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

Clinical manifestations of sickle cell disease in Africa and its association with foetal haemoglobin parameters

Communications Medicine
Background Prevalence of sickle cell disease (SCD) across African countries ranges between 1–3% and contributes up to 7–16% of under-five mortality.
Evans Xorse Amuzu, Florence Urio, Elliot Eli Dogbe, Peter Ponsian, Suraj Yawnumah Abubakar, Chinedu Okeke, Olasinbo Olumuyiwa Balogun, Petronilla Jean Ozumba, Alex Osei-Akoto, Vivian Paintsil, Obiageli Nnodu, Emmanuel Balandya, Julie Makani, Madu Anazoeze, Daniel Ansong, Siana Nkya   +15 more
doaj   +1 more source

Awareness, attitude, and acceptance of newborn screening for sickle cell disease among health workers and caregivers at primary healthcare centers in Gwagwalada Area Council, Federal Capital Territory, Abuja, Nigeria

Frontiers in Public Health
IntroductionNewborn Screening (NBS) is a public health program designed to identify and provide early interventions for infants with genetic disorders such as Sickle Cell Disease (SCD).
Isa Hezekiah A, Chisomaga Ifeanyi Oparaugo, Grace Doyin Ajetomobi, Ayomide Esther Fasina, Reuben Ikechukwu Chianumba, Obiageli Eunice Nnodu, Obiageli Eunice Nnodu   +6 more
doaj   +1 more source

Haploidentical HSCT for hemoglobinopathies: improved outcomes with TCRαβ+/CD19+-depleted grafts

Blood Advances, 2018
: We examined outcomes of haploidentical hematopoietic cell transplantation (haplo-HCT) using T-cell receptor αβ+ (TCRαβ+)/CD19+-depleted grafts (TCR group, 14 patients) in children with hemoglobinopathies.
Javid Gaziev, Antonella Isgrò, Pietro Sodani, Katia Paciaroni, Gioia De Angelis, Marco Marziali, Michela Ribersani, Cecilia Alfieri, Alessandro Lanti, Tiziana Galluccio, Gaspare Adorno, Marco Andreani   +11 more
doaj   +1 more source