Hubert Ythier

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Thyroid transcription factor 1 (NKX2-1/TITF1) mutations cause brain-lung-thyroid syndrome, characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). The objectives of the present study were (i) detection of NKX2-1 mutations in patients with CH associated with pneumopathy and/or BHC, (ii)(More)
BACKGROUND NKX2.1 mutations have been identified in patients displaying complete or partial brain-lung-thyroid syndrome, which can include benign hereditary chorea (BHC), hypothyroidism and/or lung disease. AIMS AND METHODS We evaluated the recently developed Multiplex Ligation-dependent Probe Amplification (MLPA) method to assess the relative copy number(More)
Varicella is a common disease characterized by a typical presentation. We report a case of an atypical presentation of varicella with a centrifugal distribution, eruption with many vesicles, no pustular stage in evolution and distal involvement. There were none of the known modifying factors (immunosuppression, skin disease, injury or sun exposure). To(More)
Bullous pemphigoid is an autoimmune subepidermal blistering disorder that typically affects elderly adults but can also occur in childhood. We report on a 3-month-old boy who developed bullous pemphigoid 1 week after the second routine administration of a hexavalent vaccine. The disease was resistant to standard therapies (including oral and topical(More)
[51Cr]EDTA was used as a probe molecule to assess intestinal permeability in 7 healthy control adults, 11 control children, 17 children with Crohn's disease, and 6 children with untreated celiac disease. After subjects fasted overnight, 75 kBq/kg (= 2 microCi/kg) 51Cr-labeled EDTA was given by mouth; 24-h urinary excretion of [51 Cr]EDTA was measured and(More)
We report on a boy, born on term, presenting with a weight loss and a persistent failure to thrive after 10 days despite a normal behavior under bottle-feeding. The clinical examination was normal and biological assessment revealed hyponatremia with hyponatriuria, normal kaliemia and elevated aldosterone values, leading to type I pseudohypoaldosteronism(More)
We analyzed the results of dual photon absorptiometry measurements in 43 normal children. Results were correlated with age, body weight, and stature. Reference stature-specific values for bone mineral content in children are proposed. Furthermore, our results show that mineralization continues beyond the end of statural growth.