Gastroesophageal reflux disease (GERD) is a common gastrointestinal disorder with an increasing prevalence. GERD develops when the reflux of stomach contents causes troublesome typical and atypical symptoms and/or complications. Several risk factors of GERD have been identified and evaluated over the years, including a considerable amount of genetic factors. Multiple mechanisms are involved in the pathogenesis of GERD including: (1) motor abnormalities, such as impaired lower esophageal sphincter (LES) resting tone, transient LES relaxations, impaired esophageal acid clearance and delayed gastric emptying; and (2) anatomical factors, such as hiatal hernia and obesity. Genetic contribution seems to play a major role in GERD and GERD- related disorders development such Barrett’s esophagus and esophageal adenocarcinoma. Twin and family studies have revealed an about 31% heritability of the disease. Numerous single-nucleotide polymorphisms in various genes like FOXF1, MHC, CCND1, anti-inflammatory cytokine and DNA repair genes have been strongly associated with increased GERD risk. GERD, Barrett’s esophagus and esophageal adenocarcinoma share several genetic loci. Despite GERD polygenic basis, specific genetic loci such as rs10419226 on chromosome 19, rs2687201 on chromosome 3, rs10852151 on chromosome 15 and rs520525 on the paired related homeobox 1 gene have been mentioned as potential risk factors. Further investigation on the risk genes may elucidate their exact function and role and demonstrate new therapeutic approaches to this increasingly common disease.
The correct application of SH reduces the possible complications. The advantages of the stapled procedure are reduced postoperative pain, the minimal hospital stay and early return to work.
Background/Aims Gastroesophageal reflux disease (GERD) represents a common condition having a substantial impact on the patients’ quality of life, as well as the health system. According to many studies, the BARX1 and ADAMTS17 genes have been suggested as genetic risk loci for the development of GERD and its complications. The purpose of this study is to investigate the potential association between GERD and BARX1 and ADAMTS17 polymorphisms. Methods The present is a prospective cohort study of 160 GERD patients and 180 healthy control subjects of Greek origin, examined for BARX1 and ADAMTS17 polymorphisms (rs11789015 and rs4965272) and a potential correlation to GERD. Results The rs11789015 AG and GG genotypes were found to be significantly associated with GERD ( P = 0.032; OR, 1.65; 95% CI, 1.06–2.57 and P = 0.033; OR, 3.00; 95% CI, 1.15–7.82, respectively), as well as the G allele ( P = 0.007; OR, 1.60; 95% CI, 1.14–2.24). Concerning the rs4965272, only the GG genotype was significantly associated with GERD ( P = 0.035; OR, 3.42; 95% CI, 1.06–11.05). Conclusions This is a study investigating the potential correlation between BARX1 and ADAMTS17 polymorphisms and the development of GERD, showing a considerable association between both polymorphisms and the disease. This finding suggests that esophageal differentiation or altered regulation on microfibrils in the cell environment could be implicated as possible mechanisms in the pathogenesis of GERD.
Synovial sarcoma is a high-grade soft tissue sarcoma, divided histologically into 3 types: Monophasic, biphasic and poorly differentiated. An extremely rare case of obstructive ileus due to monophasic synovial sarcoma in a 54-year-old male patient is reported in the present study. The patient presented to the emergency department with signs and symptoms of obstructive ileus. Computer Tomography (CT) scan showed a pelvic mass (20x17x12 cm) causing obstruction at the sigmoid colon. An exploratory laparotomy through a midline incision was performed. The described mass was unresectable as it was infiltrating major vessels. Therefore, a diverting loop descending colostomy and biopsy of the solid mass were performed. Pathological examination revealed a monophasic synovial sarcoma. The patient was referred to the Department of Oncology and started treatment with doxorubicin and ifosfamide.
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