Obstructive sleep apnea syndrome (OSA) is a highly prevalent disorder affecting approximately 4 to 10% of adults that has been implicated in a large spectrum of end-organ morbidities. OSA is characterized by repetitive obstructions of the upper airway during sleep that result in intermittent hypoxia (IH), increased inspiratory efforts, and ultimately sleep fragmentation (SF). A large body of re...

Alagille syndrome (AGS) is an autosomal-dominant multi-organ disorder involving the liver, heart, eyes, face and skeleton. In addition, various renal abnormalities have also been reported in several cases. We describe a patient with a novel frameshift mutation in exon 12 of the JAG1 gene who presented with chronic renal failure. In this family, five members of three generations had clinical fea...

MELAS syndrome is a mitochondrial disorder with progressive nature, because adequate treatment is not available. Diagnosis of this mitochondrial disorder depends initially on clinical suspicion, which is strengthened by additional metabolic evidence of impaired oxidative metabolism such as high serum or C.S.F. lactate levels and confirmed by demonstration of mitochondrial abnormalities-in ...

allgrove syndrome also known as triple-a syndrome is an autosomal recessive disorder characterized by alacremia, achalasia and acth-resistant adrenal insufficiency. although this syndrome is rare, herein we report four cases with different clinical manifestations. they were referred to the gastrointestinal ward during a one year period with complaints of vomiting and dysphagia. the diagnosis of...

scleromyxedema is a rare, chronic, progressive, fibromucinous disorder of unknown etiology, characterized by lichenoid waxy papules and firm induration of skin of trunk, face, forearm and hands; fibroblast proliferation and mucin deposition in the upper dermis. cutaneous involvement is characteristic but there are several associated systemic manifestations: we observed a case of scleromyxedema ...

Background: In traditional medicine, “kidney dominate reproduction”, kidney deficiency is the main cause of polycystic ovary syndrome and infertility. Objective: To survey on organ function characteristics according to medicine find out some related factors in infertile patients with syndrome. Method: This cross-sectional descriptive study recruited 110 women who visited Center for Reproductive...

Multiple organ dysfunction syndrome (MODS) is a systemic, dysfunctional inflammatory response that requires long intensive care unit (ICU) stay. It is characterized with high mortality rate depending on the number of organs involved. It has been recognized that organ failure does not occur as an all-or-none rule, but rather a range of organ dysfunction exists resulting in clinical organ failure...