Tonguç Utku Yılmaz

Rett syndrome with colon cancer presented with sigmoid volvulus: Report of a case

INTRODUCTION Rett syndrome is a progressive neurodevelopment disorder in which MECP gene mutations are responsible and might be related to cancer. PRESENTATION OF CASE A 22 year-old girl with Rett syndrome was hospitalized for abdominal distention and shock. Abdominal tenderness and distention were revealed in physical examination. Radiological investigations revealed sigmoid volvulus and colonic obstruction. Sigmoid volvulus, sigmoid colon perforation due to sigmoid cancer with liver metastasis were observed at laparotomy. Hartman procedure performed. The patient died on the second postoperative day. DISCUSSION Rett syndrome has several gastrointestinal pathologies related with inadequate parasympathetic control. Genetic mutations in methyl-CpG-binding protein 2 (MECP2) which has role in several cancer mechanisms is the reason of Rett syndrome. Colon cancer with the underlying gastrointestinal pathologies complicated our case. CONCLUSION Rett syndrome patients need a high level of concern for gastrointestinal emergencies with cancer risk.

Massive lower gastrointestinal bleeding from a jejunal Dieulafoy lesion

Dieulafoy lesion should be considered in massive gastrointestinal bleeding that may be difficult to localize. If the endoscopic and angiographic approaches fail, surgery must be considered according to the patients clinical condition within an appropriate time. Although mostly seen in the stomach of old male patients with co-morbidities, here we presented a Dieulafoy lesion in the jejunum of a 21-year-old female patient without any significant comorbidity. After endoscopic and angiographic attempts, surgical resection with the help of intraoperative endoscopy was performed. It was shown that perioperative endoscopy may reveal the localization of jejunal bleedings and may guide the definitive treatment.

Role of atp-dependent k channels in the effects of erythropoietin in renal ischaemia injury.

Background & objectives: Erythropoietin (EPO) has cytoprotective and anti-apoptotic effects in pathological conditions, including hypoxia and ischaemia-reperfusion injury. One of the targets to protect against injury is ATP-dependent potassium (KATP) channels. These channels could be involved in EPO induced ischaemic preconditoning like a protective effect. We evaluated the cell cytoprotective effects of EPO in relation to KATP channel activation in the renal tubular cell culture model under hypoxic/normoxic conditions. Methods: Dose and time dependent effects of EPO, KATP channel blocker glibenclamide and KATP channel opener diazoxide on cellular proliferation were evaluated by colorimetric assay MTT [3-(4,5-dimethylthiazol-2-yl)-2,5 diphenyltetrazolium bromide] under normoxic and hypoxic conditions in human renal proximal tubular cell line (CRL-2830). Evaluation of the dose and time dependent effects of EPO, glibenclamide and diazoxide on apoptosis was done by caspase-3 activity levels. Hypoxia inducible factor-1 alpha (HIF-1 α) mRNA levels were measured by semi-quantative reverse transcription polymerase chain reaction (RT)-PCR. Kir 6.1 protein expresion was evalutaed by Western blot. Results: Glibenclamide treatment decreased the number of living cells in a time and dose dependent manner, whereas EPO and diazoxide treatments increased. Glibenclamide (100 μM) treatment significantly blocked the anti-apoptotic effects of EPO (10 IU/ml) under both normoxic and hypoxic conditions. EPO (10 IU/ml) and diazoxide (100 μM) treatments significantly increased (P<0.01) whereas glibenclamide decreased (P<0.05) HIF-1 α mRNA expression. Glibenclamide significantly (P<0.01) decreased EPO induced HIF-1 α mRNA expression when compared with the EPO alone group. Interpretation & conclusions: Our results showed that the cell proliferative, cytoprotective and anti-apoptotic effects of EPO were associated with KATP channels in the renal tubular cell culture model under hypoxic/normal conditions.

Factors affecting successful colonoscopy procedures: Single-center experience

Objective Colonoscopy is a gold standard procedure for several colon pathologies. Successful colonoscopy means demonstration of the ileocecal valve and determination of colon polyps. Here we aimed to evaluate our colonoscopy success and results. Material and Methods This retrospective descriptive study was performed in İstanbul Eren hospital endoscopy unit between 2012 and 2015. Colonoscopy results and patient demographics were obtained from the hospital database. All colonoscopy procedures were performed under general anesthesia and after full bowel preparation. Results In all, 870 patients were included to the study. We reached to the cecum in 850 (97.8%) patients. We were unable to reach the cecum in patients who were old and obese and those with previous lower abdominal operations. Angulation, inability to move forward, and tortuous colon were the reasons for inability to reach the cecum. Total 203 polyp samplings were performed in 139 patients. We performed 1, 2, and 3 polypectomies in 97, 28, and 10 patients, respectively. There were 29 (3.3%) colorectal cancers in our series. There was no mortality or morbidity in our study. Conclusion General anesthesia and full bowel preparation may be the reason for increased success of colonoscopy. Increased experience and patient-endoscopist cooperation increased the rate of cecum access and polyp resection and decreased the complication rate.

Relationship of functional constipation and anal-retentive behavior features

OBJECTIVES Constipation is the most commonly seen defecation problem and related with several environmental factors. Learning defecation is learned in the childhood anal period in which anal characteristic features appear. Problems in the anal period of childhood may affect not only the characters but also the defecation function. We aimed to evaluate the relationship between constipation and anal characteristic features of participants with functional constipation. MATERIAL AND METHODS Patients with functional constipation were included in the study according to the ROME III criteria. Patients with irritable bowel disease, slow transit constipation, outlet obstruction constipation, malignancy, and psychiatric diseases were excluded from the study. Patients filled out the Personality Belief Questionnaire, Hospital Anxiety and Depression Scale, and Obsessive Belief Questionnaire. The results were compared with healthy individuals. RESULTS A total of 47 patients with functional constipation were included in the study. The avoidant, obsessive-compulsive, antisocial, narcissistic, and paranoid personality beliefs were found to be higher in patients with constipation than in the control group. Perfectionism/certainty, importance and control, and hospital anxiety scores were found to be higher in patients with constipation than in the control group. CONCLUSION Constipation may be related to several factors, such as socioeconomic environment, emotional stress, age, and diet, among others. Here we found that anal-retentive behavior features are prominent in functional constipation. Biofeedback, which can be regarded as psychotherapy of defecation control, can be used for treatment.

Scoring Idiopathic Granulomatous Mastitis: An Effective System for Predicting Recurrence?

Objective Idiopathic granulomatous mastitis is a breast disease without a definitive etiology. There are no definitive classifications, scoring systems or certitudes. The aim of this study is to define the factors related to the recurrence and design a scoring system. Material and Methods Patients who were admitted to the general surgery department with symptoms of granulomatous mastitis were evaluated by ultrasonography and underwent antibiotic therapy. Granulomatous mastitis is diagnosed by core biopsy and treated with steroid therapy. Patients without improvement underwent surgery and were included in the study. In total, 53 patients were included in the study. There were 8 recurrent cases. Factors related with recurrences were defined. Results Number of births over 2, duration of lactation more than 18 months, body mass index greater than 31, having fistula in physical examination, abscess collection in ultrasonographic examination, and luminal inflammation score over 2 were scored as 1. Severity score in recurrent cases were 5.1±0.6 whereas 1.9±1.0 in nonrecurrent cases. Conclusion Granulomatous mastitis score is a tool targeted at predicting the risk of recurrences. The patients with these factors are more prone for recurrences.

Characteristics of Special Type Breast Tumors in Our Center

Objective Breast cancer is a heterogeneous disease with different histological types. Ductal breast cancer constitutes the vast majority of the breast cancers. However limited data are present in the rest of breast cancers called special or rare type breast cancers. Here in this study, we tried to describe the clinical features of special type breast cancers in our center. Materials and Methods Retrospective descriptive study was performed in Kocaeli University School of Medicine, Department of General Surgery between January 2000 and January 2016. Women diagnosed with primary breast cancer other than ductal carcinoma were included to the study. In total, 101 patients were evaluated according to histologic types, molecular types, Tumor Node Metastasis (TNM) stages, and grades. Survival of the patients was also evaluated. Results Medullary and metaplastic types showed basal type; tubular, mucinous, micropapillary carcinoma, cribriform, lobular and apocrine tumors showed luminal type molecular pattern. Neither the existence of ductal carcinoma nor any histologic types had any effects on survival. Apocrine tumors were presented in younger ages. Conclusion Histologic types of breast cancer are closely related with the molecular types of the breast cancer. Tumor size, grade, stage of the disease can show differences among histological types which might be due to the genetic background, late onset or limited number of patients. In order to achieve more significant results, multicenter national studies are needed.

Early Outcomes in Patients Treated with Stapled Hemorrhoidopexy

Hemorrhoidal disease is quite common among benign anorectal diseases. Clinical methods such as lifestyle changes, medical therapies, band ligation, sclerotherapy, cryotherapy, and infrared photocoagulation are frequently used at its early stage, during which its symptoms do not disturb patients (1). Surgical treatment alternatives become prominent in patients not giving any response to conservative treatment and in those with advanced-stage hemorrhoidal disease. Stapler hemorrhoidopexy (SH) was first described by Longo in 1998 as an alternative to other methods for the surgical treatment of stage 3 and 4 hemorrhoidal disease and rectal mucosal prolapse (2). Although this technique is used commonly, it is still questioned in terms of its complications (36). Severe complications including anal stenosis, difficult defecation, bleeding, fistula, recurrent proctitis, and incontinence can decrease the level of interest shown for this method. In this study, we present our clinical experience gained from patients that underwent SH and analyze it in light of the available literature.

Duodenal and jejunal Dieulafoy’s lesions: optimal management

Dieulafoy’s lesions (DLs) are rare and cause gastrointestinal bleeding resulting from erosion of dilated submucosal vessels. The most common location for DL is the stomach, followed by duodenum. There is little information about duodenal and jejunal DLs. Challenges for diagnosis and treatment of Dieulafoy’s lesions include the rare nature of the disease, asymptomatic patients, bleeding symptoms often requiring rapid diagnosis and treatment in symptomatic patients, variability in the diagnosis and treatment methods resulting from different lesion locations, and the risk of re-bleeding. For these reasons, there is no universal consensus about the diagnosis and treatment approach. There are few published case reports and case series recently published. Most duodenal DLs are not evaluated seperately in the studies, which makes it difficult to determine the optimal model. In this study, we summarize the general aspects and recent approaches used to treat duodenal DL.

Laparoscopic treatment of ileal intussusception due to heterotopic gastric mucosa in an adult patient

Adult intussusception, which is a rare condition, generally requires surgical treatment. A 25-year-old-male with abdominal pain was diagnosed as ileal intussusception with computerized tomography. The patient underwent diagnostic laparoscopy, laparoscopic small bowel resection and anastomosis. The pathologic evaluation revealed heterotopic gastric mucosa. Heterotopic gastric mucosa is rarely seen in ileum and is difficult to diagnose preoperatively. Excision is the choice of treatment. Laparoscopic treatment can be preferred in adult intussusception even in urgent cases.