Results 71 to 80 of about 4,949,451 (244)
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 +2 more
wiley +1 more source
The Kaohsiung Journal of Medical Sciences, EarlyView.ABSTRACT Advances in therapy have extended the life expectancy of patients with thalassemia to near that of the general population; complications such as endocrine disorders and osteoporosis remain prevalent. This study aimed to identify endocrine complications, factors associated with endocrine complications, and changes in bone mineral density (BMD ...
Cheng‐Ying Hsu +7 more
wiley +1 more source
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 +4 more
wiley +1 more source
Depression in mothers of children with thalassemia or blood malignancies: a study from Iran [PDF]
Background Several studies have found that parents of children with chronic diseases or disabilities have higher depression scores than control parents. Mothers usually take on the considerable part of the extra care and support that these children need
AliReza Farrokhi +9 more
core +1 more source
, 2023 Allogeneic stem cell transplantation remains the only therapy for congenital, severe haemoglobinopathies that is able to reverse the pathological phenotype. In the severe form of thalassemia, regular transfusions are needed early in life. This population
Luca Castagna +5 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij +11 more
wiley +1 more source
Dermatoglyphs in patients with beta-thalassemia major and their thalassemia carrier parents [PDF]
, 2009 Dermatoglyphs are cutaneous ridges on the fingers, palms, and soles, formed during early intrauterine life. During this period, and only then, genetic and environmental factors can influence their formation.
SAVAŞ, NAZAN +2 more
core +2 more sources
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 +4 more
wiley +1 more source
The life of patients with thalassemia major
Haematologica, 2010 Andrea wakes up late, because the night before he went to a party with his girlfriend. He disconnects the needle and puts his desferal pump in the drawer. Then he rushes to work: he’s a computer designer and his job is quite safe, because it was granted under the law protecting thalassemia patients and other people with medical problems.
openaire +3 more sources
Non‐Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality
Prenatal Diagnosis, EarlyView.ABSTRACT Haemoglobinopathies are the most prevalent monogenic disorders worldwide, contributing significantly to childhood morbidity and mortality. Preventive strategies, including carrier screening and prenatal diagnosis, have successfully reduced disease incidence in regions with established programmes.
Irene Leonidou +7 more
wiley +1 more source