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Biomedical subjects

F Bury

Publications and source records attributed to F Bury.

9 recordsLinked to original sources
PubMed2004

[Case report: congenital adrenal hyperplasia and ambiguous genitalia due to 3 beta-hydroxysteroid dehydrogenase deficiency].

3 beta-hydroxysteroid dehydrogenase deficiency is a disorder of steroid biosynthesis resulting in decreased production of all 3 groups of adrenal steroids. The symptomatology includes congenital adrenal hyperplasia disorders and ambiguous genitalia in 46, XY males. 3beta-HSD deficiency is a rare autosomal recessive genetic disorder. Much heterogeneity exists in the clinical presentation of this disorder.

3-Hydroxysteroid Dehydrogenases↗
PubMed2001

Nail matrix arrest in the course of hand, foot and mouth disease.

UNLABELLED: Onychomadesis describes complete nail shedding from the proximal portion; it is consecutive to a nail matrix arrest and can affect both fingernails and toenails. It is a rare disorder in children. Except for serious generalised diseases or inherited forms, most cases are considered to be idiopathic. Few reports in literature concern common triggering phenomena. We present four patients in whom the same benign viral condition in childhood appeared as a stressful event preceding onychomadesis. In each case, spontaneous complete healing of the nails was achieved within a few weeks. CONCLUSION: Onychomadesis and/or onycholysis is a newly recognised complication in the course of viral infections presenting clinically as hand, foot and mouth disease, and because of mild forms, is probably underestimated.

Adolescent↗
PubMed2001

[Pneumomediastinum in children].

Pneumomediastinum in children is diagnosed in two circumstances: cervical subcutaneous emphysema or radiological findings. The predominant symptoms are dyspnoea, stabbing chest pain, sore throat and dysphagia. Traumatic injuries and pulmonary diseases such as asthma are the most common causes of pneumomediastinum. It may rarely result from iatrogenic manoeuvres or acidocetosis. Spontaneous mediastinal emphysema is seldom reported in children. Chest X-ray films are essential investigations. The treatment is directed towards the underlying cause, with conservative management being sufficient in most cases. However, the risk of surveying of pneumothorax or tension pneumomediastinum justifies close clinical follow-up in a specialised care unit. The onset of these pathologies necessitates a more aggressive therapy by aspiration through percutaneous catheter placed in the mediastinum.

Asthma↗
PubMedDate not supplied

[Aglossia-adactylia with jejunal atresia].

Case report of a newborn with the aglossy-adactyly syndrome associated with complete jejunal atresia. Review of the literature does not allow any conclusion concerning the etiology of the observed malformations. The jejunal atresia, present in this case is probably coincidental. Attention is drawn on the possibility of prenatal diagnosis of obstruction of the digestive tract by ultrasound whenever pregnancy is complicated by hydramnios.

Abnormalities, Multiple↗