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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 PDFSystemic Epstein-Barr virus-positive T-cell lymphoma of childhood combined with hemophagocytic lymphohistiocytosis: a case report.
AME Case Rep
August 2024
Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China.
Article Synopsis
- Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoma of childhood (STCLC) is a rare and highly fatal disease, often linked to acute EBV infection and hemophagocytic lymphohistiocytosis (HLH).
- A case study of a 5-year-old Chinese girl illustrates swift diagnosis through various tests revealing STCLC, but despite chemotherapy, she succumbed to the disease within six days of hospital admission.
- The condition is characterized by aggressive growth of EBV-positive T-cells and is marked by a nearly 100% mortality rate, highlighting the necessity for pediatricians to recognize and understand this critical illness.
Efficiency of Topical Beta-Blockers for Epistaxis Control in Ulcerated Infantile Hemangioma.
Cureus
August 2024
Otolaryngology, University of Florida, Gainesville, USA.
Article Synopsis
- Infantile hemangiomas (IHs) are common, benign tumors in children that can lead to complications like pain and disfigurement, but often resolve on their own.
- A case study describes a two-month-old girl with epistaxis due to an ulcerating hemangioma in her nasal passage, initially treated with nasal saline.
- The topical beta-blocker Timolol effectively stopped her bleeding, but further treatment with oral propranolol was required for better tumor management, highlighting the importance of topical treatments as a first-line option for IHs in infants.
Hereditary hemorrhagic telangiectasia - pediatric review.
Curr Opin Pediatr
December 2024
Pediatrics Cancer and Blood Diseases Institute, Division of Hematology, HHT Center of Excellence, Sturge-Weber Center of Excellence Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Article Synopsis
- Recent advancements in the diagnosis and management of hereditary hemorrhagic telangiectasia (HHT) in children have led to new guidelines focusing on pediatric care released in 2020.
- The Curacao criteria for diagnosing HHT are less sensitive in children, prompting a recommendation for genetic testing for all family members, even those without symptoms.
- Early screening for pulmonary and brain arteriovenous malformations (AVMs) is critical, with suggested regular checks every 5 years, as well as specialized treatment options for high-risk cases in pediatric patients.
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