Long-term follow-up of patients with triple A syndrome revealed a variety of the clinical features involving many systems. Progressive natural course of the disease may seriously affect quality of life and even be life-threatening in patients with severe neurological impairment.
Excess weight and obesity are common health problems with multifactorial and polygenic causes. Abdominal or visceral obesity is associated with a higher risk of obesity related complications. The aim of the study was to evaluate differentially expressed genes in visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT) of 10 overweight women undergoing elective laparoscopic cholecystectomy. Following expression profiling using microarrays, a set of 294 genes that exhibited differential expression between VAT and SAT was further analyzed to test the functional correlation of gene sets using the Gene Set Enrichment Analysis method. To confirm the functional pathways involved in differential expression between SAT and VAT, additional pathway analysis was done using the GeneGo MetaCore software and the Ingenuity Pathway Analysis. Ten differentially expressed genes were selected according to the microarray data, with seven exhibiting significant differential expression in the RT-PCR experiments. The data from this preliminary study suggest enrichment of inflammation and oxidative stress related pathways in VAT, while insulin homeostasis pathways as well as pathways pertaining to several growth factors are enriched in SAT.
Inflammatory myofibroblastic tumors (IMTs) are rare soft-tissue tumors that can occur at virtually any anatomical site. We report the case of a 58-year-old male with an IMT of the fourth part of the duodenum who presented with signs and symptoms of high intestinal obstruction and bilious vomiting. The patient underwent a surgical resection of the fourth part of the duodenum with end-to-end duodenojejunal anastomosis. The follow-up period of 6 months was uneventful with no evidence of recurrence. According to our knowledge, only six cases of duodenal IMTs have been reported in the literature thus far, and this is the first report of a duodenal IMT sited at the fourth part of the duodenum. The duodenum is among the rarest sites of IMTs. Signs and symptoms resulting from diagnostic imaging investigations are nonspecific and inadequate to obtain diagnosis accurately. In most cases, surgical treatment is considered a cure for IMTs. There is no evidence of deaths caused by duodenal IMT. IMT of the duodenum is a possible diagnosis in differential diagnosis of tumor-like lesions of the duodenum.
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