Results 81 to 90 of about 42,354 (173)

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Assessment of Grades of Recommendations and Applicability of Royal College of Obstetricians and Gynaecologists Green‐Top Guidelines: A Cross‐Sectional Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Background Royal College of Obstetricians and Gynaecologists (RCOG) Green‐top Guidelines (GTGs) provide evidence‐based recommendations in women's health. Even where evidence is considered high quality, it is uncertain whether factors known to influence maternity outcomes are reflected in study design.
Anangsha Kumar, Alexandra Cocking, Megan Hall, James Morris, Srividhya Sankaran, Holly Lovell, Andrew Shennan, Kypros Nicolaides, Lisa Story   +8 more
wiley   +1 more source

Cascade Screening of β-Thalassemia in an Indian Family Using Flow Injection Analysis–Triple Quadrupole Mass Spectrometry: Comparison of Micro Sampling Approaches with Conventional Electrophoresis

Thalassemia Reports
Background: β-thalassemia is a rare genetic disorder affecting 1–5% of the global population and poses a health burden due to migration of individuals from endemic regions. Identifying asymptomatic β-thalassemia carriers is essential to prevent the birth
Ankitha K. Puthiyaveettil, Harshini K. Musuvathi, Deepalakshmi D. Putchen   +2 more
doaj   +1 more source

Iron Physiology and Its Impact on Atopic Diseases: An EAACI Taskforce Report

Allergy, EarlyView.
ABSTRACT Iron is essential for oxygen transport, energy metabolism, and immune regulation. Yet iron deficiency is the most common micronutrient disorder across all age groups, affecting nearly one quarter of the global population. Iron deficiency triggers nutritional immunity, a host defense mechanism that withholds and redistributes iron, contributing
Franziska Roth‐Walter, Ioana Agache, Beatriz Cabanillas, Roberto Berni Canani, Pasquale Comberiati, Holger Garn, Cristina Gomez‐Casado, Karin Hufnagl, Ekaterina Khaleva, Gregorio P. Milani, Daniel Munblit, Nikolaos Douladiris, Liam O'Mahony, Frank Redegeld, Carmen Riggioni, Peter K. Smith, Betty van Esch, Emilia Vassilopoulou, Carina Venter, Diego G. Peroni   +19 more
wiley   +1 more source

PBI22 Rethinking the Health-Economic Evaluation Framework for GENE Therapies: The Betibeglogene Autotemcel (BETI-CEL) Case in Î’-Thalassemia [PDF]

Value in Health, 2020
L. Undreiner, M. Caillon, C. Paramore, S. Roze   +3 more
openaire   +1 more source

The role of iron in normal and impaired testicular function

Andrology, EarlyView.
Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer, Esther G. Meyron‐Holtz, Andreas Meinhardt   +2 more
wiley   +1 more source

Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia

Haematologica, 2009
Ten patients with thalassemia intermedia with variable severity and apparent simple heterozygosis for β0 39 C>T nonsense mutation were submitted to clinical, hematologic and molecular studies.
Maria Carla Sollaino, Maria Elisabetta Paglietti, Lucia Perseu, Nicolina Giagu, Daniela Loi, Renzo Galanello   +5 more
doaj   +1 more source

Neutrophil extracellular traps induced by activated platelets as a cause of neutrophil–platelet aggregation in β‐thalassaemia/haemoglobin E patients

British Journal of Haematology, EarlyView.
Abnormal neutrophils and platelets in splenectomised β‐thalassaemia/haemoglobin E (HbE) disease contribute to neutrophil–platelet aggregation, leading to a high risk of thrombus formation. Activated platelets induce neutrophils to generate neutrophil extracellular trap (NETs) via the P‐selectin–P‐selectin glycoprotein ligand‐1 (PSGL1) pathway, which ...
Rattanawan Thubthed, Rattanaporn Praneetponkang, Potchaman Sittipaisankul, Chayada Thiengtavor, Suwathida Chumpuchanaphai, Kittiphong Paiboonsukwong, Suthat Fucharoen, Kovit Pattanapanyasat, Jim Vadolas, Duncan R. Smith, Saovaros Svasti, Pornthip Chaichompoo   +11 more
wiley   +1 more source

Thrombocytosis and the generation of platelet‐derived microparticles in the pathophysiology of sickle cell disease

British Journal of Haematology, EarlyView.
Thrombocytosis is associated with an increased production of platelet‐derived microparticles from activated platelets, which contribute to vaso‐occlusion in sickle cell disease by perpetuating the cycle of inflammation, procoagulant state and endothelial dysfunction.
Giao N. Lê, Anna Dillon, Owen P. Smith, Corrina McMahon   +3 more
wiley   +1 more source

Hydroxyurea (hydroxycarbamide) use in adults with haemoglobin SC disease: A real‐world study in Quebec

British Journal of Haematology, EarlyView.
Summary Haemoglobin SC (HbSC) disease is the second most prevalent form of sickle cell disease, but evidence for hydroxyurea (hydroxycarbamide; HU) to prevent pain episodes was limited until the prospective identification of variables as outcomes for treatment (PIVOT) trial.
Alice Girard, Laurianne Charette, Mélissa Haouchine, Laurence Bozec, Mohamed Zakaria Bachir Bouyadjera, Mariane Poitras, Vincent‐Thierry Taillefer, Chloé Trudeau, Yves Pastore, Nathalie Letarte, Stéphanie Forté   +10 more
wiley   +1 more source