UNLABELLED Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, a...

The evaluation of hematologic disorders after solid organ transplantation (SOT) must take into account issues unique to the post-transplant setting that influence the development of anemia and single or multi-lineage cytopenias. Attention to the time of onset of cytopenia(s) is important, because the disorders of passenger lymphocyte syndrome, transplant-related thrombotic microangiopathy, hemo...

Polycystic ovarian syndrome (PCOS) is the most common female endocrine disorder, affecting approximately 5%-10% of all females and 4-6% of adolescent girls and young women. PCOS is a hormonal disorder that involves multiple organ systems within the body and is believed to be fundamentally caused by insensitivity to insulin.1 It can be diagnosed in all phases of life in girls as young as 8-9 yea...

This study aimed to investigate tourniquet-induced compartment syndrome of the limb, consequential development multiple organ dysfunction syndrome, and its counteraction with pentadecapeptide BPC 157 therapy.

This paper focused on analysis of fatty acids of erythrocytes and blood plasma in patients with multiple organ dysfunction syndrome. For the study, fatty acids ethyl esters, obtained during sample preparation from blood plasma and erythrocytes, were analyzed by capillary gas-liquid chromatography. Statistical analysis was performed using the Mann-Whitney U test (p<0.05). The conducted research ...

DNA rearrangement rather than point mutation is an emerging hypothesis for human carcinogenesis. Although there is no direct evidence for this hypothesis, indirect evidence is provided by cancer cytogenetics and genetics. It has been suggested that patients with Bloom's syndrome, a disorder of spontaneous chromosomal rearrangement, develop the common fatal internal cancers and thus that genetic...

triple a syndrome (allgrove syndrome) is a rare inherited autosomal recessive disease with a typical triad including adrenocorticotrophic-hormone-resistant glucocorticoid insufficiency, reduced or absent tearing (alacrima) and achalasia and a wide range of symptoms can be detected due to multi organ involvement. this report describes the case of a triple asyndrome, a12 year-old boy with a histo...

DNA rearrangement rather than point mutation is an emerg ing hypothesis for human carcinogenesis. Although there is no direct evidence for this hypothesis, indirect evidence is pro vided by cancer cytogenetics and genetics. It has been sug gested that patients with Bloom's syndrome, a disorder of spontaneous chromosomal rearrangement, develop the com mon fatal internal cancers and thus that gen...

Stevens-Johnson syndrome (SJS) is systemic immune reactions (type IV hypersensitivity) that are usually present by blistering and erosions of skin mucous membranes with involvement multiple organ systems. The incidence SJS rare, the common comorbidities diabetes mellitus, epilepsy, hypertension, stroke. This condition associated proinflammatory state. Diabetes mellitus a metabolic disorder char...