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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 PDFMaternal caffeine intake during pregnancy and the risk of childhood asthma by 10 years of age-Evidence from The Generation XXI birth cohort study.
Pediatr Allergy Immunol
January 2025
EPIUnit-Institute of Public Health, University of Porto, Porto, Portugal.
Background: We aimed to investigate the association between maternal caffeine intake during pregnancy and asthma in children by 10 years of age.
Methods: We considered 5585 mother-child pairs enrolled in a population-based birth cohort. Consumption of regular and decaffeinated coffee, black and green tea, and cola beverages before and during pregnancy was obtained through face-to-face interviews within 72 h after giving birth, and total caffeine intake (mg/day) was estimated.
Respiratory manifestations of sickle cell disease in children: a comprehensive review for the pediatrician.
Expert Rev Respir Med
January 2025
Department of Surgery, Dentistry, Pediatrics and Gynaecology, Pediatric Division, University of Verona, Verona, Italy.
Introduction: Sickle cell disease (SCD) is an inherited hemoglobinopathy characterized by the production of sickle hemoglobin, leading to red blood cells sickling and hemolysis in hypoxic conditions. The resulting acute and chronic endothelial inflammation leads to chronic organ damage. Respiratory manifestations in SCD usually start from childhood and represent the leading causes of morbidity and mortality.
View Article and Find Full Text PDFComplicated foregut duplication cyst presenting as broncho-oesophageal fistula.
BMJ Case Rep
January 2025
Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, Delhi, India.
Oesophageal duplication cysts are a subtype of foregut cysts, associated with the presence of ectopic gastric mucosa. Gastric acid secreted by this mucosa can lead to complications. We report one such unusual case of complication leading to the formation of broncho-oesophageal fistula in a duplication cyst.
View Article and Find Full Text PDFRespiratory insufficiency as a rare presentation in a child with vitamin D-dependent rickets type 1.
BMJ Case Rep
January 2025
Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India.
Rickets in children usually present with skeletal manifestations. However, they can also rarely present with extraskeletal manifestations, one of them being respiratory insufficiency. We present an unusual case of a girl in early childhood with respiratory insufficiency, which turned out to be due to the underlying vitamin D-dependent rickets (VDDR).
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