Hale Gokcan

Detection of MEFV Gene Mutations in Patients with Inflammatory Bowel Disease

Inflammatory bowel disease (IBD) with ulcerative colitis (UC) and Crohns disease (CD) as the most common forms is an inflammation of the gastrointestinal tract. Familial Mediterranean fever (FMF) is another inflammatory disease as well. In the current study we studied FMF gene mutations in 47 patients with IBD and 25 healthy individuals to investigate the effects of these mutations on the clinical status of IBD. Twelve mutations were analyzed by reverse hybridization after multiplex PCR amplification of DNA samples. We did not find an association between FMF gene mutations and IBD phenotypic characteristics. However, in patients without Mediterranean fever (MEFV) mutations, extraintestinal disease frequencies were higher (p<0.05). IBD has a genetic basis with multiple genes probably playing a role via several pathways during disease progression. Studying other genes interacting with FMF gene in a larger group of patients will add to the knowledge of disease pathogenesis.

Pregabalin: A New Adjunct in Calcineurin Inhibitor Pain Syndrome Treatment.

Tacrolimus and cyclosporin are calcineurin inhibitors (CIs) commonly used in organ transplants. These agents rarely cause a severe, debilitating pain syndrome of especially lower extremities, known as CI pain syndrome (CIPS). Although the pathogenesis is not well understood, neuropathic pain mechanisms have started to be discussed in the recent literature. Here, presenting a 48-year-old male with CIPS who recovered after pregabalin 150 mg twice daily, we aimed to emphasize the importance of this syndrome and offer a new approach for the treatment. This is the first report in the literature where pregabalin is demonstrated to be effective in CIPS.

Metastases of malignant melanoma to stomach

Malignant melanoma (MM) is one of the most common tumours that metastasises to the gastrointestinal (GI) tract. The small intestines are the most common site for this metastasis; however, the stomach is also a rare site [1, 2]. A 58-year-old male patient applied to the gastroenterology outpatient clinic with nausea and epigastric pain. He had a history of localised cutaneous MM excision from the right thigh 5 years earlier. Lab work showed no significant abnormality on blood biochemistry. His esophagogastroduodenoscopy showed multiple, black-pigmented lesions of various sizes (Figure 1). A biopsy from these lesions revealed MM metastasis (Figure 2). Figure 1 A–C. Malignant melanoma metastasis in stomach; diffusely spread black-pigmented lesions at gastric mucosa in esophagogastroduodenoscopy Figure 2 A – Gastric mucosa with evident black pigmentation (haematoxylin and eosin stain, 100×). B – HMB-45 positivity in neoplastic cells (immunohistochemical stain, 200×) Malignant melanoma may involve the GI tract as a metastatic lesion, or rarely as a primary tumour. Gastrointestinal tract metastasis can be seen synchronous with the primary tumour, or as a recurrent tumour years later [1, 2]. Gastric involvement may be seen as a black-pigmented ulcer or as diffusely spread black-pigmented lesions, as in our case [3]. However, a histopathological exam may not differentiate a primary lesion from a metastatic one [4]. Immunohistochemistry should be employed to prove MM with markers such as HMB-45 and S100 [5]. Treatment options for metastatic involvement of the GI tract with MM are surgery, chemotherapy, immunotherapy, and palliative therapy. Only surgery is reported to increase survival to some extent [1]. As a result, because MM metastasis may show up years later, we suggest screening of GI tract in MM patients if there is the presence of GI symptoms.

GASTROINTESTINAL STROMAL TUMOR IN A YOUNG MAN WITH SEVERE HEMATEMESIS: A CASE STUDY.

397 Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors that are localized in the gastrointestinal system and have unique histological findings. It is mostly defined in patients after the fourth decade. The most common involvement of tumor is seen in the stomach and small intestines, and the most common clinical presentation is gastrointestinal bleeding and abdominal pain. In this study, we present a 22-year-old patient with unprovoked hematemesis, who was discovered to have GIST at the gastric corpus by esophagogastroduodenoscopy. A 22-year-old male patient with abdominal pain and hematemesis was admitted to the emergency department with laboratory tests results as GASTROINTESTINAL STROMAL TUMOR IN A YOUNG MAN WITH SEVERE HEMATEMESIS : A CASE STUDY

Fractalkine receptor polymorphism may not be associated with the development and clinical course of ulcerative colitis

Fractalkine (CX3C), a chemokine expressed by epithelial cells within normal and inflamed colorectal mucosa, induces leukocyte adhesion and migration via fractalkine receptor. The aim of this study was to investigate two single nucleotide polymorphisms of the fractalkine receptor gene as a risk factor both for the development and clinical findings of ulcerative colitis. In this study, 51 patients with ulcerative colitis (UC) and 80 controls were recruited. Genotypes of fractalkine receptorc.745G>A (V249I) and c.839C>T (T280M) polymorphisms were identified by restriction fragment length polymorphism analyses after polymerase chain reaction.Genotype distribution and allele frequencies of V249I and T280M were not statistically significantly different between UC and control groups (p>0.05). No statistically significant relationship was found between fractalkine receptor polymorphisms and clinical findings of UC. We observed no significant difference in fractalkine receptor polymorphism between patients and control group and no genotype-phenotype relation. Therefore, we concluded that fractalkine receptor polymorphisms may not contribute to the molecular pathogenesis of UC.