conclusions the patients with diffuse pjs may be asymptomatic and without gastrointestinal or extragastrointestinal malignancies. introduction peutz-jeghers syndrome (pjs) is a rare disorder characterized by mucocutaneous perioral pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk of malignancy. families with pjs may show a variable spectrum of manifestations in spite...

Steroidogenic acute regulatory protein (STAR) is a key protein for the intracellular transport of cholesterol to the mitochondrium in endocrine organs (e.g. adrenal gland, ovaries, testes) and essential for the synthesis of all steroid hormones. Several mutations have been described and the clinical phenotype varies strongly and may be grouped into classic lipoid congenital adrenal hyperplasia ...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical shifts in production glucocorticoids, mineralocorticoids, or sex steroids cholesterol by glands. Universal newborn screening CAH recommended early diagnosis and initiation therapy. The development due a defect CYP21 gene, which encodes 21-hydroxylase e...

Negative Concord (NC) is the phenomenon where not every morphosyntactically negative element corresponds to a semantic negation. It has long been noted that NC languages appear to be of different types. Giannakidou (2000) distinguishes Strict NC from Non-strict NC languages. In Strict NC languages every negative indefinite (henceforth n-word, following Laka’s (1990) terminology) must be accompa...

The bosonic second invariant of SuperLiouville models in supersymmetric classical mechanics is described.

Monitoring, control and improvement of quality are  important  for companies.  Process capability indices (PCIs) are tools widely used by the industries to determine  the quality of their products and the performance of their manufacturing processes. Classic versions of  these  indices were constructed for processes whose quality characteristics have  a  normal distribution. But, many of these ...