a known case of nephrotic syndrome aged 32 months was admitted to icu because of loss of consciousness. in physical exam he had tachycardia, tachypnea and hypotension. lab data showed metabolic alkalosis and hypoxia. in cxr, vascular cut off was seen in right lung and perfusion lung scan showed absence of perfusion in the right lung.treatment was started with heparin and streptokinase, but unfo...

Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0) and after o...

Background: A fault in chromosome distribution during cell division leads to aneuploidy, which can be associated with thrombocytopenia. Various hematological abnormalities have been reported among neonates with Down syndrome (DS). Neutrophilia, thrombocytopenia and polycythemia were the most common hematological abnormalities observed among neonates with Down syndrome. In particular, thrombocyt...

objective: hypoxia-inducible factor (hif)-1 plays an essential role in the body’s response to low oxygen concentrations and regulates expression of several genes implicated in homeostasis, vascularization, anaerobic metabolism as well as immunological responses. increased levels of hif-1α are associated with increased proliferation and more aggressive breast tumor development. lactobacilli have...

The purpose of the current study was to propose a Korean-specific parameter set for calculating the risk of Down syndrome in the second trimester of pregnancy and to determine the screening performances of triple and quadruple tests in Korean women. Using the data on triple or quadruple screening from three hospitals in Korea during 7 yr, we re-converted the concentrations of four serum markers...

Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency co...

Triple X syndrome 47XXX is a sex chromosome abnormality characterized by presence of an extra X chromosome. Most of the girls born with triple X chromosomes have no signs or symptoms at birth. The condition often remains undiagnosed until adulthood when the genetic defect is discovered on investigation for other reasons as in this case of a young girl who presented with primary amenorrhoea. Cli...

BACKGROUND Triple X syndrome (47,XXX or trisomy X) is a relatively frequent cytogenetic condition with a large variety of physical and behavioural phenotypes. METHOD Two adult patients with a triple X karyotype are described. RESULTS Their karyotype was unknown until some years ago. What these patients have in common is that they were diagnosed with a broader autism phenotype, they were sex...

RATIONALE Neonatal respiratory distress syndrome is a restrictive lung disease characterized by surfactant deficiency. Decreased vascular endothelial growth factor (VEGF), which demonstrates important roles in angiogenesis and vasculogenesis, has been implicated in the pathogenesis of restrictive lung diseases. Current animal models investigating VEGF in the etiology and outcomes of RDS require...

Posterior Reversible Encephalopathy Syndrome (PRES), also known as Leukoencephalopathy Syndrome, presents with rapid onset symptoms, including headache, seizures, altered consciousness, and visual disturbance. It is seen most frequently in settings of acute hypertension usually related to eclampsia. Only a few cases the literature described PRES syndrome following benzodiazepines. We present yo...