2402 results
Search Results
Now showing 1 - 10 of 2402
Item The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey(2015) Erol, Ilknur; 25296579Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies.Item The prevalence and diagnostic criteria of health-care associated infections in neonatal intensive care units in Turkey: A multicenter point- prevalence study(2021) Demirdag, Tugba Bedir; Koc, Esin; Tezer, Hasan; Oguz, Suna; Satar, Mehme; Saglam, Ozge; Uygun, Saime Sunduz; Onal, Esra; Hirfanoglu, Ibrahim Murat; Tekgunduz, Kadir; Oygur, Nihal; Bulbul, Ali; Zubarioglu, Adil Umut; Ustun, Nuran; Unal, Sezin; Aygun, Canan; Karagol, Belma Saygili; Zenciroglu, Aysegul; Oncel, M. Yekta; Saglik, Adviye Cakil; Okulu, Emel; Terek, Demet; Narli, Nejat; Aliefendioglu, Didem; Gursoy, Tugba; Unal, Sevim; Turkmen, Munevver Kaynak; Narter, Fatma Kaya; Ciftdemir, Nukhet Aladag; Beken, Serdar; Cakir, Salih Cagri; Yigit, Sule; Coban, Asuman; Ecevit, Ayse; Celik, Yalcin; Kulali, Ferit; 0000-0002-2232-8117; 33546932; AAJ-4616-2021Background: Healthcare-acquired infections (HAIs) in the neonatal period cause substantial morbidity, mortality, and healthcare costs. Our purpose was to determine the prevalence of HAIs, antimicrobial susceptibility of causative agents, and the adaptivity of the Centres for Disease Control and Prevention (CDC) criteria in neonatal HAI diagnosis. Methods: A HAI point prevalence survey was conducted in the neonatal intensive care units (NICUs) of 31 hospitals from different geographic regions in Turkey. Results: The Point HAI prevalence was 7.6%. Ventilator-associated pneumonia (VAP) and central line-associated bloodstream infections (CLABSI) and late onset sepsis were predominant. The point prevalence of VAP was 2.1%, and the point prevalence of CLABSI was 1.2% in our study. The most common causative agents in HAIs were Gram-negative rods (43.0%), and the most common agent was Klebsiella spp (24.6%); 81.2% of these species were extended spectrum beta-lactamase (ESBL) (& thorn;). Blood culture positivity was seen in 33.3% of samples taken from the umbilical venous catheter, whereas 0.9% of samples of peripherally inserted central catheters (PICCs) were positive. In our study, 60% of patients who had culture positivity in endotracheal aspirate or who had purulent endotracheal secretions did not have any daily FiO2 change (p = 0.67) and also 80% did not have any increase in positive end-expiratory pressure (PEEP) (p = 0.7). On the other hand, 18.1% of patients who had clinical deterioration compatible with VAP did not have endotracheal culture positivity (p = 0.005). Conclusions: Neonatal HAIs are frequent adverse events in district and regional hospitals. This at-risk population should be prioritized for HAI surveillance and prevention programs through improved infection prevention practices, and hand hygiene compliance should be conducted. CDC diagnostic criteria are not sufficient for NICUs. Future studies are warranted for the diagnosis of HAIs in NICUs.Item Postprandial Hypoglycemia: An Unusual Presentation for Insulinoma(2016) Haydardedeoglu, Filiz Eksi; Torun, Ayse Nur Izol; Andic, Cagatay; Bakiner, Okan; Bozkirli, Emre; kayaselcuk, Fazilet; Ertorer, Melek EdaInsulinoma is the most common type of islet cell tumor of the pancreas and its incidence is estimated at four per one million persons per year. Although fasting hypoglycemia is the typical presentation, cases with postprandial hypoglycemia have rarely been reported. A 48-year-old woman was admitted to our department for evaluation of hypoglycemia. Laboratory data suggested a state of postprandial endogenous hyperinsulinemic hypoglycemia. Abdominal computed tomography revealed a mass lesion measuring 20 mm at the distal pancreas. A decision was made to perform an arterial calcium-stimulated venous sampling for excluding nesidioblastosis coexisting with a pancreatic incidental mass. After that the patient was referred to surgery. Pathological examination revealed a low-grade well-differentiated neuroendocrine tumor with regional lymph node metastasis. Herein, we report a case of malignant insulinoma presenting with postprandial hypoglycemia and discuss the differential diagnosis and possible mechanisms of postprandial hypoglycemia in insulinoma cases.Item Addition of gonadotropin releasing hormone agonist for luteal phase support in in-vitro fertilization: an analysis of 2739 cycles(2015) Simsek, Erhan; Kilicdag, Esra Bulgan; Aytac, Pinar Caglar; Coban, Gonca; Simsek, Seda Yüksel; Cok, Tayfun; Haydardedeoglu, Bulent; 26097392Objective: Luteal phase is defective in in vitro fertilization (IVF) cycles, and many regimens were tried for the very best luteal phase support (LPS). Gonadotropin releasing hormone (GnRH) agonist use, which was administered as an adjunct to the luteal phase support in IVF cycles, was suggested to improve pregnancy outcome measures in certain randomized studies. We analyzed the effects of addition of GnRH agonist to standard progesterone luteal support on pregnancy outcome measures, particularly the live birth rates. Material and Methods: This is a retrospective cohort study, including 2739 IVF cycles. Long GnRH agonist and antagonist stimulation IVF cycles with cleavage-stage embryo transfer were included. Cycles were divided into two groups: Group A included cycles with single-dose GnRH agonist plus progesterone LPS and Group B included progesterone only LPS. Live birth rates were the primary outcome measures of the analysis. Miscarriage rates and multiple pregnancy rates were the secondary outcome measures. Results: Live birth rates were not statistically different in GnRH agonist plus progesterone (Group A) and progesterone only (Group B) groups in both the long agonist and antagonist stimulation arms (40.8%/41.2% and 32.8%/34.4%, p<0.05 respectively). Moreover, pregnancy rates, implantation rates, and miscarriage rates were found to be similar between groups. Multiple pregnancy rates in antagonist cycles were significantly higher in Group A than those in Group B (12.0% and 6.9%, respectively). Conclusion: A beneficial effect of a single dose of GnRH agonist administration as a luteal phase supporting agent is yet to be determined because of the wide heterogeneity of data present in literature. Well-designed randomized clinical studies are required to clarify any effect of luteal GnRH agonist addition on pregnancy outcome measures with different doses, timing, and administration routes of GnRH agonists.Item The Evaluation of Clinical Signs in Patients with Suspected Renovascular Hypertension(2018) Tekkarismaz, Nihan; Torun, Dilek; Ozkan, Ugur; Zumrutdal, Aysegul; Acar, Fatma Nurhan Ozdemir; 0000-0001-7631-7395; 0000-0002-5682-0943; 0000-0002-6267-3695; AAD-9088-2021; AAK-1697-2021; AAD-9111-2021OBJECTIVE: Renovascular hypertension (RVH) is the most common yet correctable cause of secondary hypertension if diagnosed early. There are many clinical signs that can suggest RVH. The aim of this study was to find which clinical or laboratory signs are more indicative in diagnosing RVH and in determining which patients should go through renal angiography. MATERIAL and METHODS: The study included 184 patients who presented to our clinic due to hypertension and were under risk of RVH. All patients underwent three-dimensional time-of-flight Magnetic Resonance Angiography with phase-contrast. The patients were divided into two groups as with and without renal artery stenosis, supported by MRA. RESULTS: Advanced age, low body mass index, high serum creatinine level, presence of proteinuria, and patients with diabetes mellitus and coronary artery disease were found to be significant risk factors for RVH. Only the presence of renal asymmetry and the history of coronary artery disease were found to be independent risk factors. CONCLUSION: In conclusion, detailed patient history and the evaluation of renal size are very important for patients with hypertension. Coronary artery disease and a difference in renal size of more than 1.5 cm could be strong indicators of RVH.Item The effect of extracorporeal shock wave lithotripsy on distribution of interstitial cells of Cajal in rabbit renal pelvis and proximal ureter(2015) Boybeyi, Ozlem; Fedakar Senyucel, Mine; Ayva, Ebru Sebnem; Soyer, Tutku; Aslan, Mustafa Kemal; Basar, Mehmet Murad; Cakmak, Ahmet Murat; 25790556Background/aim: An experimental study was performed to evaluate the effect of extracorporeal shock wave lithotripsy (ESWL) on the distribution of interstitial cells of Cajal (ICC) in rabbit renal pelvis and proximal ureter. Materials and methods: Six New Zealand rabbits were included. Right kidneys were exposed to a total of 3000 shock waves (14 kV) by using an electrohydraulic-type ESWL device. Right sides were allocated as the ESWL group (EG, n = 6) and left sides as the control group (CG, n = 6). Tissues were harvested on day 7. Tissues were examined histopathologically for the presence of edema, inflammation, congestion, hemorrhage, fibrosis, and vascularization. Mast cell tryptase and CD117 (c-kit) staining was performed for ICC distribution. Results: Although increased tissue edema in renal pelvises and increased inflammation in ureters were observed in EG, no statistical difference was detected between groups (P > 0.05). In CG, positive CD117 staining was detected in 2 renal pelvises and ureters. None of the EG samples showed CD117 staining and no statistical difference was detected between groups (P > 0.05). Conclusion: Rabbit does not appear to be a good model for investigating ICCs. ESWL may cause histopathological alterations in the renal pelvis and ureter. Since it has not been statistically proven, reduced contractility of the ureter after ESWL may not be attributed to altered distribution of ICCs in the renal pelvis and ureter.Item A. Lazer ve Isik Sistemleri(2020) Ozcan, HamdiLaser and light systems are being used and demanded by patients more and more everyday in the treatment of acne and scars. Various devices are used in active acne and scar treatment. The effects of light systems on acne and scar tissue have been reported in different magnitudes. Since there are differences in practice and methodology, no judgement can be made on the success of treatment methods. The effectiveness of light systems increases with combined therapies. Their use in combination with medical therapies may increase the rate of success.Item Comparison of three different risk-stratification models for predicting lymph node involvement in endometrioid endometrial cancer clinically confined to the uterus(2017) Haberal, Ali; Kocaman, Eda; Dursun, Polat; Ayhan, Ali; Korkmaz, Vakkas; Meydanli, Mehmet Mutlu; Yalcin, Ibrahim; Sari, Mustafa Erkan; Sahin, Hanifi; Gungor, Tayfun; 0000-0002-1741-7035; 0000-0002-1486-7209; 0000-0002-7869-9662; 29027396; AAI-9331-2021; AAJ-5802-2021Objective: To compare the clinical validity of the Gynecologic Oncology Group-99 (GOG-99), the Mayo-modified and the European Society for Medical Oncology (ESMO)-modified criteria for predicting lymph node (LN) involvement in women with endometrioid endometrial cancer (EC) clinically confined to the uterus. Methods: A total of 625 consecutive women who underwent comprehensive surgical staging for endometrioid EC clinically confined to the uterus were divided into low- and high-risk groups according to the GOG-99, the Mayo-modified, and the ESMO-modified criteria. Lymphovascular space invasion is the cornerstone of risk stratification according to the ESMO-modified criteria. These 3 risk stratification models were compared in terms of predicting LN positivity. Results: Systematic LN dissection was achieved in all patients included in the study. LN involvement was detected in 70 (11.2%) patients. LN involvement was correctly estimated in 51 of 70 LN-positive patients according to the GOG-99 criteria (positive likelihood ratio [LR+], 3.3; negative likelihood ratio [LR-], 0.4), 64 of 70 LN-positive patients according to the ESMO-modified criteria (LR+, 2.5; LR-, 0.13) and 69 of the 70 LN-positive patients according to the Mayo-modified criteria (LR+, 2.2; LR-, 0.03). The area under curve of the Mayo-modified, the GOG-99 and the ESMO-modified criteria was 0.763, 0.753, and 0.780, respectively. Conclusion: The ESMO-modified classification seems to be the risk-stratification model that most accurately predicts LN involvement in endometrioid EC clinically confined to the uterus. However, the Mayo-modified classification may be an alternative model to achieve a precise balance between the desire to prevent over-treatment and the ability to diagnose LN involvement.Item Could radial extracorporeal shock wave therapy have an effect on wound healing in clinical practice by creating genotoxic damage? An in-vitro study in mouse fibroblasts(2021) Simsek, Ekin Kaya; Haberal, Bahtiyar; Kasap, Yesim Korkmaz; Yurtcu, Erkan; 0000-0003-3438-1633; 0000-0002-1668-6997; 34842098; AAV-8821-2021; W-9080-2019Objectives: This study aims to evaluate wound healing effects of in vitro radial extracorporeal shock wave (rESW) application on mouse fibroblasts and whether the cytotoxic effect of extracorporeal shock wave (ESW) was due to a possible genotoxic effect. Patients and methods: After creating an in vitro wound healing model in L929 mouse fibroblast culture, fibroblasts were stimulated with a frequency of 3 Hz, and 100, 250, 500, 1,000 and 1,500 pulses shock waves were applied. Energy flux densities ranging from 0.01 to 0.23 mJ/mm2 (14.3 MPa) at a constant pressure level of 0.5 and 1 bar were applied. Wound healing, cell viability, and genotoxicity were evaluated at 24 and 48 h. Results: All shot numbers for both pressures significantly reduced cell viability (p<0.05). For both 0.5 and 1 bar pressures, in both intervals, the rate of wound healing decreased, regardless of the number of shots (p<0.05). In vitro genotoxic damage was detected at both 0.5 and 1 bar pressures, in both time intervals, regardless of the number of shots. The genotoxic damage increased from 24 h to 48 h. Conclusion: The study results suggest that, when ESWT is applied in this in vitro experimental setup, cell viability decreases and wound healing is delayed under all conditions. Furthermore, genotoxic damage can be prevented by using shots below 1,000 pulses. Therefore, while investigating the therapeutic effect of ESW therapy in vitro, the upper limit for the number of shots should be 1,000 pulses.Item Effects of Cardiopulmonary Bypass on Mediastinal Drainage and the Use of Blood Products in the Intensive Care Unit in 60-to 80-Year-Old Patients Who Have Undergone Coronary Artery Bypass Grafting(2015) Aygun, Fatih; Ozuklu, Mehmet; Gunday, Murat; 26934397Objective: The present study consisted of patients who underwent on-pump coronary artery bypass grafting (CABG) and off-pump CABG and investigated effect of using cardiopulmonary bypass (CPB) on the amount of postoperative drainage and blood products, red blood cell (RBC), free frozen plasma (FFP) given in the intensive care unit in 60-80-year-old patients who underwent CABG. Methods: The present study comprises a total of 174 patients who have undergone coronary artery bypass graft (off-pump or on-pump CABG) surgery in our clinic in between 2012-2015 year. Results: It was observed that the amount of drainage in the first 24 postoperative hours was lower in the on-pump CABG group (Group 1) when compared to off-pump group (Group 2) (Group 1 vs. Group 2; 703.5 +/- 253.8 ml vs. 719.6 +/- 209.4 ml; P=0.716). However, the amount of drainage in the second 24 hours was statistically significantly lower in the off-pump CABG group (Group 1 vs. Group 2; 259.8 +/- 170.6 ml vs. 190.1 +/- 129.1 ml; P=0.016). With regard to the amount of overall drainage, no statistically significant difference was observed between the two groups. Group 1 needed RBC transfusion higher than Group 2 (Group 1 vs. Group 2; 2.2 +/- 1.3 bag vs. 1.2 +/- 0.9 bag; P<0.001). Conclusion: We can say that CPB influences the amount of second 24-hour drainage which indexed body surface area. In addition, CPB decreases hct, hb, thrombocyte count in ICU arrived, after 24 hours in postoperative period. Reduced thrombocyte counting effect can be appeared after 48 hours in the postoperative period of CPB.