Results 81 to 90 of about 70,815 (255)

Plummer–Vinson syndrome in a 10‐year‐old boy from Côte d'Ivoire: An exceptional paediatric case with African context

JPGN Reports, EarlyView.
Abstract Plummer–Vinson syndrome (PVS) is characterised by the triad of dysphagia, iron‐deficiency anaemia, and proximal oesophageal webs. While well described in adults, paediatric cases remain exceptionally rare, particularly in sub‐Saharan Africa.
Paul Mike Tayou Mbobda, Hatrydt Guillaume Dimitri Kouamé, Amadou Ouattara   +2 more
wiley   +1 more source

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

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

Sickle-cell disease [PDF]

Nature, 2014
Lauren, Gravitz, Stephen, Pincock
openaire   +4 more sources

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

A study of 28 pregnant women with sickle cell disease and COVID-19: elevated maternal and fetal morbidity rates

Haematologica, 2023
Laure Joseph, Gonzalo De Luna, Emmanuelle Bernit, Pierre Cougoul, Aline Santin, Benoit Faucher, Anoosha Habibi, Alain Garou, Gylna Loko, Sarah Mattioni, Sandra Manceau, Jean Benoit Arlet, François Lionnet   +12 more
doaj   +1 more source

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

Sickle Cell Disease: Historical Overview and Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide, yet the limited treatment options currently available do not always adequately control the disease and carry significant side effects. At present, the only curative treatment is hematopoietic stem cell (HSC) transplantation, a procedure that carries considerable challenges and numerous ...
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Fonio (Digitaria exilis and Digitaria iburua) in Nigeria: Regional cultivation patterns, landrace diversity, and farmer knowledge for conserving a climate‐resilient indigenous cereal

PLANTS, PEOPLE, PLANET, EarlyView.
Fonio (Digitaria exilis and Digitaria iburua) cereals are valued for their drought resilience, adaptability to poor soils, and cultural importance. In Nigeria, where both species are cultivated, fonio has declined due to labor‐intensive processing, lower yields, and changing livelihood choices. By documenting 21 landraces (15 D. exilis and 6 D. iburua),
Ishaq Muawiyya, Abubakar Bello, George P. Burton, Philippa Ryan, Maria S. Vorontsova   +4 more
wiley   +1 more source