Abstract Background A case of thyroid hormone deficiency which presented at birth. Thyroid hormones are essential for brain development and normal cognitive function. Common symptoms congenital hypothyroidism (CH) include constipation, decreased activity, increased sleep feeding difficulty. signs dry skin, macroglossia umbilical hernia. If is left untreated after birth, it can lead to permanent...

BACKGROUND Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atre...

A newborn mass-screening program for the early detection of phenylketonuria, maple syrup urine disease, homocystinuria, galactosemia, congenital hypothyroidism, congenital adrenal hyperplasia, using filter paper blood specimens, was started throughout Japan in 1977. The total number of newborns screened by March 2000 reached 29,657,738; this represents 95% of the newborns during this period. A ...

Pulmonary artery sling is an uncommon entity in the neonatal period. It defined as abnormally originated left pulmonary arising from posterior aspect of right artery. Because associated structures this region, mostly originating sixth aortic arch, tracheobronchial anomalies and congenital heart defects, it frequently accompanies sling. Etiology has not been determined to date. Surgical correcti...

The objective of this research is to propose and to validate two different statistical techniques to test the hypothesis of an association between surnames and pathologies, in a population participating in a screening procedure for a given pathology. We propose two statistical methods: a first technique is based on the rarefaction method, and second one is based on the principle of resampling, ...