Frank-ter Haar syndrome (FTHS) is a rare autosomal recessive syndrome resulting from mutations in the SH3PXD2B gene involved in the formation of podosomes and invadopodia which have a role in extracellular matrix remodelling and cell migration. FTHS is characterized by facial dysmorphism, megalocornea, inconstant glaucoma, variable developmental delay, skeletal and cardiac anomalies. To date, 40 patients have been reported in the literature with a clinical diagnosis of FTHS, only 20 patients having identified mutations.
View Article and Find Full Text PDFAlthough controversy over the role of flexible versus rigid bronchoscopy for airway foreign body management persists, the effort should focus on prevention of aspiration of foreign bodies instead. This article discusses several recent advances in the bronchoscopic management of congenital tracheal stenosis, pediatric airway stenting, and the use of different types of lasers in children. The lack of randomized clinical trials leaves pediatric interventional bronchoscopic procedures without much national or international standards or guidelines.
View Article and Find Full Text PDFPediatric interventional bronchoscopy includes a variety of diagnostic and therapeutic procedures. Restoration of airway patency, management of tracheoesophageal fistula, and difficult airway intubation are just a few pertinent examples. This review discusses the most recently introduced techniques in pediatric bronchology.
View Article and Find Full Text PDFIn France, the incidence of tuberculosis has been in constant decline over recent decades which has resulted in the lifting of mandatory vaccination as well as a growing lack of awareness of the action to take with a "suspect" child. Treatment should be coordinated between doctors from anti-tuberculosis centres and specialised hospital departments.
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