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Hereditary haemorrhagic telangiectasia.
Nat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
View Article and Find Full Text PDFClaudin 18.2-targeting antibody-drug conjugate CMG901 in patients with advanced gastric or gastro-oesophageal junction cancer (KYM901): a multicentre, open-label, single-arm, phase 1 trial.
Lancet Oncol
January 2025
Department of Medical Oncology, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University, Research Unit of Precision Diagnosis and Treatment for Gastrointestinal Cancer, Chinese Academy of Medical Sciences, Guangzhou, China. Electronic address:
Background: CMG901 is a novel first-in-class antibody-drug conjugate with a humanised anticlaudin 18.2 antibody linked to microtubule-disrupting agent monomethyl auristatin E. We aimed to assess the antitumour activity and safety of CMG901 in patients with advanced gastric or gastro-oesophageal junction cancer and other solid tumours.
View Article and Find Full Text PDFApproach to anaemia in gastrointestinal disease: A position paper by the ESPGHAN Gastroenterology Committee.
J Pediatr Gastroenterol Nutr
January 2025
Department of Paediatrics, University Medical Centre Maribor, Maribor, Slovenia.
Anaemia is a frequent consequence of many gastrointestinal (GI) diseases in children and it can even be the initial presenting symptom of underlying chronic GI disease. The definition of anaemia is age and gender-dependent and it can be classified based on pathophysiology, red cell morphology, and clinical presentation. Although nutritional deficiencies, including GI malabsorption of nutrients and GI bleeding, play a major role, other pathophysiologic mechanisms seen in chronic GI diseases, whether inflammatory (e.
View Article and Find Full Text PDFThe modern use of hydroxyurea for children with sickle cell anemia.
Haematologica
January 2025
Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati OH; University of Cincinnati College of Medicine, Cincinnati OH; Global Health Center, Cincinnati Children's Hospital Medical Center, Cincinnati OH.
Over the past 40 years, the introduction and refinement of hydroxyurea therapy has led to remarkable progress for the care of individuals with sickle cell anemia (SCA). From initial small proof-of-principle studies to multi-center Phase 3 controlled clinical trials and then numerous open-label studies, the consistent benefits of once-daily oral hydroxyurea have been demonstrated across the lifespan. Elevated fetal hemoglobin (HbF) serves as the most important treatment response, as HbF delays sickle hemoglobin polymerization and reduces erythrocyte sickling.
View Article and Find Full Text PDFPercutaneous Transhepatic Venous Embolization and Portal Vein Stenting for Ectopic Variceal Bleeding at Choledochojejunostomy After Pancreaticoduodenectomy With Portal Vein Stenosis: A Case Report.
Cureus
December 2024
Department of Surgery, Tokyo Saiseikai Central Hospital, Tokyo, JPN.
Ectopic varices can result from portal vein stenosis following pancreaticoduodenectomy with concomitant portal vein resection reconstruction, and they can cause gastrointestinal bleeding. Although they can sometimes be fatal, various treatments have been reported. This report describes a case in which a percutaneous transhepatic approach was used to simultaneously perform variceal embolization and portal vein stenting in which a favorable outcome was achieved.
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