6112 results
Search Results
Now showing 1 - 10 of 6112
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 Effect of Levatirecetam Monotherapy on Complete Blood Count, Immunoglobulin Levels and Lymphocyte Subsets in Children and Adolescents with Epilepsy(2017) Misirlioglu, P. K.; Erol, I.; Savas, T.; Cagla, S.; Kozanoglu, I.; 0000-0002-3530-0463; 0000-0002-5268-1210; AAK-4825-2021; AAE-1241-2021Item Metastatik beyin tümörlerinde diffüzyon mr görüntüleme bulguları(Başkent Üniversitesi Tıp Fakültesi, 2016) Öztürk, Özge; Yıldırım, TülinGünümüzde kanser insidansı giderek artmaktadır. Hastaların prognozunu belirleyen birçok faktör olmakla beraber, intrakranial metastazlar en önemli prognostik faktörlerden biridir. Erişkin hastalarda, metastatik intrakranial tümörler primer beyin tümörlerine oranla 10 kat daha sık izlenmektedir. Metastatik tümörler orjin aldıkları dokuların özelliklerini yansıtmaktadır. Bu çalışmanın amacı; kanserli olgularda solid beyin metastazlarının primer malignite tanılarına göre gruplandırılarak difüzyon ağırlıklı görüntüler (DAG) ile değerlendirilmesi, kantitatif olarak saptanmış difüzyon katsayısı (ADC) değerlerinin, karşı taraf normal beyaz cevher ADC’si ölçülerek hesaplanan ADC oranı ve T2 ağırlıklı (T2A) görüntülerdeki sinyal intensitesinin (SI)’nin karşılaştırılması ile DAG’ın beyin metastazlarının değerlendirilmesinde rutin manyetik rezonans görüntüleme (MRG) tetkikine katkılarını belirlemektir. Retrospektif olarak yapılan bu çalışmada, Ocak 2011 – Mayıs 2016 tarihleri arasında Başkent Üniversitesi Tıp Fakültesi Ankara Hastanesi ile Başkent Üniversitesi Adana Uygulama ve Araştırma Hastanesine başvuran, primer malignite öyküsü olan veya başvuru esnasında malignite tanısı almamış olup santral sinir sistemi ile ilgili şikayetleri nedeniyle beyin MRG çekilen ve metastaz saptanan, 172’si erkek, 127’si kadın 299 hasta dahil edilmiştir. Hastalar, primer malignitelerine göre gruplandırıldı. 1,5 Tesla (T) cihaz ile alınan DAG’da ADC haritaları ve T2A serilerde metastatik lezyonun en çok kontrast tutan solid kesiminden ortalama ADC değeri (mADC), bu değerin karşı taraf normal beyaz cevher ADC’sine oranı ile hesaplanan ADC oranı (rADC) ve T2A’daki ortalama SI (mT2) değerleri ölçüldü. Ölçümler deneyimli bir radyolog tarafından yapıldı. Hastaların büyük bir kesiminin lezyonu akciğer karsinomu metastazı olduğu için, elde edilen veriler bu grupta ayrı olarak da analiz edildi. Ortalama mADC değerleri primer tanı grupları arasında karşılaştırıldığında küçük hücreli akciğer karsinomu (KHAK) ortalama mADC değerinin, küçük hücre dışı akciğer karsinomu (KHDAK), meme karsinomu ve renal hücreli karsinom (RHK) ortalama mADC değerinden daha düşük olduğu gösterildi. Ayrıca, rADC değeri KHAK’de, KHDAK’ye göre anlamlı olarak daha düşük (p<0,01) olup diğer tanı grupları rADC değerleri arasında anlamlı istatistiksel ilişki saptanmadı. Tüm metastazların ortalama mADC değeri benzer çalışmalardan daha düşük olarak izlendi. Primer malignite tanı grupları ile intrakranial metastatik lezyon sayısı arasında anlamlı ilişki saptanmadı. mADC değeri ve mT2 değeri lezyon sayısına göre değişkenlik göstermezken rADC değeri multipl lezyonu olanlarda daha düşük olarak saptandı. Akciğer karsinomu subtiplerine göre yapılan analizlerde KHAK mADC değerinin akciğer adenokarsinomu ve skuamöz hücreli karsinom (SHK)’dan, KHAK rADC değerinin ise akciğer adenokarsinomundan daha düşük olduğu belirlendi. Diğer değişkenlerin gruplar arasında farklılık göstermediği belirlendi. Ölçüm yapılan parametrelerin birbirleriyle ilişkisi analiz edildiğinde mADC-mT2 arasında ve rADC –mT2 arasında pozitif korelasyon olup, rADC –mT2 arasındaki ilişki daha zayıf olarak bulundu (p<0,05). Sonuç olarak intrakranial metastazların difüzyon MRG bulgularının incelendiği çalışmamızda, lezyonların ADC özelliklerinin primer malignite tanılarına göre değişkenlik gösterdiği saptanmıştır. Non-invaziv olması, kolay ve kısa sürede uygulanması ve kantitatif ölçümlere olanak vermesi nedeniyle DAG’ın intrakranial metastatik lezyonların ayırıcı tanısında, takibinde, tedaviye yanıtında, konvansiyonel MRG’ye eklenmesinin gerekli olduğu sonucuna varılmıştır. Cancer incidence is increasing day after day. There is so many prognostic factors for cancer patients but intracranical metastasis is one of the most important prognostic factor for quality of life. For adult patients, metastatic intracranial tumors seen 10 times more common than primary brain tumors. Metastatic tumors reflect the characteristics of primer tumor. The aim of this study, to compare quantitative apparent diffusion coefficient (ADC) values, signal intensity (SI) at T2 sequance and ADC ratio between calculated the counterpart of normal white matter ADC value and solid brain metastases which grouped primary malignancy diagnosis and also to determine the contribution of the diffusion MRI on routine magnetic resonance imaging (MRI) in the evaluation of brain metastases. This retrospective study, included 172 male, 127 women, total 299 patients who were applicant to Ankara Baskent University Hospital and Baskent University Adana Teaching and Research Hospital between January 2011 - May 2016. Patients choosed from a variety of clinical, primary malignancy with brain metastasis or first diagnosis applicant with complaints about the central nervous system, brain MRI taken and metastasis identified. The patients were classified according to their primary cancer. We measured mean ADC values (mADC), mean SI at T2 weighted sequences (mT2) and ADC ratio (rADC) that calculated mADC ratio the counterparty normal white matter’s ADC value from the solid part of tumor which show the most contrast enhancement by using 1,5 Tesla (T) magnetic resonance (MR) scanner. The measurements were made by an experienced radiologist. ADC and T2 SI values of lung carcinoma were analyzed also because of the patients with metastatic carcinoma of the lung were a large portion of our patients. When compared between the groups of patients mADC average values of primary; small cell lung carcinoma (SCLC) mADC average value was shown to be lower than non-small cell lung carcinoma (NSCLC), breast carcinoma and renal cell carcinoma (RCC). In addition, the ADC rate that rADC value in SCLC was significantly lower than NSCLC (p <0.01) and no significant statistical relationship between the value of other diagnostic groups rADC. mADC average value of all metastases were observed to be lower than those of similar studies. There is no significant relationship between primary malignancy diagnosis and the number of intracranial metastatic lesions were not detected. When there was no relationship the number of lesions with mT2 and mADC value, rADC value was lower in patients with multiple lesions. Analysis conducted by the subtypes of lung carcinoma, SCLC’s mADC value was lower than the value of lung adenocarcinoma and squamous cell carsinoma (SCC) and SCLC’s rADC value was lower than the value of adenocarcinoma’s. It was determined that no significant differences among groups of other variables. When the measurement of parameters analyzed the relationship between each other mADC-mT2 and rADC –mT2 has a positive corelation, but correlation between rADC -mT2 is weaker than mADC-mT2 (p <0.05). In conclusion, diffusion MRI findings of intracranial metastases, ADC features vary for primary malignancy diagnosis in our study. Because of applying in short time, be a non-invasive method,easy way and allows the quantitative measurement, DWI should be added conventional MRI for differential diagnosis of intracranial metastatic lesions for follow-up and response to treatment.Item The Effect of Modified Ultrafiltration Duration on Pulmonary Functions and Hemodynamics in Newborns and Infants Following Arterial Switch Operation(2014) Turkoz, Ayda; Tuncay, Ezgi; Balci, Sule Turgut; Can, Meltem Guner; Altun, Dilek; Turkoz, Riza; Undar, Akif; 24977688; AAR-7467-2020Objectives: Modified ultrafiltration is used to ameliorate the deleterious effects of cardiopulmonary bypass in pediatric cardiac surgery patients. The ideal duration of modified ultrafiltration has not been established yet. We investigated the effects of extended duration of modified ultrafiltration on pulmonary functions and hemodynamics in the early postoperative period in newborns and infants who had transposition of great arteries operations. Design: Single-center prospective randomized study. Setting: Pediatric cardiac surgery operating room and ICU. Patients: Sixty newborns and infants who had been scheduled to undergo transposition of great arteries operation. Interventions: None. Measurements and Main Results: Modified ultrafiltration was applied to all patients following the termination of cardiopulmonary bypass (for 10, 15, and 20 min in groups 1, 2, and 3, respectively). Pulmonary compliance, gas exchange capacity, hemodynamic measurements, inotropic support, blood loss, transfusion requirements, hematocrit level, and duration of ventilatory support were measured after intubation, at termination of cardiopulmonary bypass, at the end of modified ultrafiltration, and in the 1st, 6th, 12th, and 24th hours after admission to ICU. The amount of fluid removed by modified ultrafiltration in groups 2 and 3 was larger than that of group 1 (p < 0.01). Systolic blood pressure was significantly increased at the end of modified ultrafiltration in group 3 compared to groups 1 and 2 (p < 0.05). Hematocrit levels were significantly increased at the end of modified ultrafiltration in groups 2 and 3 compared to group 1 (p < 0.01). Therefore, RBCs were transfused less after modified ultrafiltration in groups 2 and 3 compared to group 1 (p < 0.05). Static and dynamic compliance, oxygen index, and ventilation index had improved similarly in all three groups at the end of modified ultrafiltration (p > 0.05) Conclusions: Modified ultrafiltration acutely improved pulmonary compliance and gas exchange in all groups. Increased hematocrit and blood pressure levels were also observed in the longer modified ultrafiltration group. However, extended duration of modified ultrafiltration did not have a significant impact on duration of intubation or the stay in ICU.Item Kidney Weight and Recipient Body Weight Ratio Predict Long-Term Graft Outcome(2014) Akdur, A.; Kirnap, M.; Kolsarici, E.; Yildirim, S.; Moray, G.; Haberal, M.; https://orcid.org/0000-0002-8726-3369; https://orcid.org/0000-0002-5735-4315; https://orcid.org/0000-0003-2498-7287; https://orcid.org/0000-0002-3462-7632; AAA-3068-2021; AAH-9198-2019; AAF-4610-2019; AAE-1041-2021; AAJ-8097-2021Item The Use of Mycophenolate Mofetil in Experimental Encapsulating Peritoneal Sclerosis(2015) Huddam, Bulent; Basaran, Murat; Kocak, Gulay; Azak, Alper; Yalcin, Funda; Reyhan, Nihan Haberal; Duranay, Murat; 0000-0001-9852-9911; 26159779; AAK-4587-2021Encapsulated peritoneal sclerosis (EPS) is a rare complication of long-term peritoneal dialysis usually associated with the inadequacy and early termination of dialysis modality. Adequate treatment of peritoneal fibrosis has not been achieved by medical intervention so far. Mycophenolate mofetil (MMF), which inhibits inosine monophosphate dehydrogenase reversibly and highly selectively, is the most widely used drug for maintenance immunosupression in renal transplantation. Recent studies have shown that MMF has also antifibrotic effects. In this study, we evaluated the effects of MMF on EPS model in rats based on antifibrotic effects. Twenty-four Wistar albino rat have been randomly divided into four groups. Group I (control group) received isotonic saline intraperitoneally (i.p) 2 ml/day for (0-3rd weeks). Group II (chlorhexidine (CG) group) received CG 2 ml/day i.p. for (0-3rd weeks). Group III (chlorhexidine + MMF group) received CG (2 ml/day) i.p. for (0-3rd weeks) plus MMF 30 mg/kg/day peroral (4th-6th weeks). Group IV (resting group) received CG 2 ml/day) i.p. (0-3rd weeks) plus peritoneal resting without any treatment (4th-6th weeks) At the end of the sixth weeks, all of the rats were killed. All of the groups were analyzed in terms of peritoneal thickness, degree of inflammation, vasculopathy, neovascularization and fibrosis. Also, the parietal peritoneal tissue samples were evaluated for matrix metalloproteinase 2 (MMP-2) by using the immunohistochemical analysis. When the CG group was compared with the MMF group, the medication resulted in a statistically significant reduction in peritoneal thickness, inflammation and fibrosis score (53.23 +/- A 16.24 vs. 17.22 +/- A 3.62, 1 +/- A 1.225 vs. 1 +/- A 0, 1.6 +/- A 0.548 vs. 0.2 +/- A 0.447, respectively, all p < 0.05). In the resting group, no beneficial effects on morphological abnormality of the peritoneum were observed as compared with MMF group. However, according to immunohistochemical analysis of the expression of MMP-2 on peritoneal samples, the highest expression of MMP-2 was observed in the MMF group. MMF was effective for the treatment of encapsulating peritoneal fibrosis in our rat model. Most recently, MMF may be first choice for EPS due to antifibrotic effect.Item Histologic Evaluation of the Effect of Mecsina Hemostopper on Bone Regeneration for Critical-Size Defects(2022) Aydin, Pelin; Akdeniz, Sidika Sinem; Akcay, Eda Yilmaz; 35904834Purpose: Acceleration of the bone healing period and/or increasing the quality of newly formed bone still have great importance in the field of oral and maxillofacial surgery. The aim of this study was to evaluate the effect of isolated liquid Mecsina (herbal extract) and its combination with xenogeneic graft material (bovine bone graft) on bone regeneration. Materials and Methods: Full-thickness critical-size defects with 10-mm diameter and 2-mm depth were created on the calvarial bone region in 28 Sprague Dawley male rats. Four groups were generated: Mecsina Hemostopper, Mecsina Hemostopper + graft group, only graft group, and empty control group. On the 28th day following surgery, all animals were sacrificed. The calvarial samples were evaluated both histopathologically and histomorphometrically. Results: According to the histopathologic evaluation result, vascular proliferation was significantly higher in the groups in which Mecsina Hemostopper was used as a single material or in combination with graft material (P<.05). Histomorphometric evaluation showed that trabecular and osteoid thickness were significantly higher in all Mecsina application groups (P<.05). Conclusion: Mecsina Hemostopper was found to be an effective agent in increasing cell proliferation and providing more qualified bone formation. The combination of Mecsina and xenogeneic bone graft was found to be one of the most effective augmentation options for critical-size defects in rats. Mecsina Hemostopper could be used to get more qualified bone formation clinically, but more clinical research is needed in the future.Item Risk Factors for Lymph Node Metastasis among Lymphovascular Space Invasion-Positive Women with Endometrioid Endometrial Cancer Clinically Confined to the Uterus(2018) Sari, Mustafa Erkan; Meydanli, Mehmet Mutlu; Yalcin, Ibrahim; Sahin, Hanifi; Coban, Gonca; Celik, Husnu; Kuscu, Esra; Gungor, Tayfun; Ayhan, Ali; 0000-0002-3285-5519; 0000-0002-0992-6980; 30419557; AAD-8494-2019; AAI-9974-2021; AAL-1923-2021; AAI-8792-2021; AAJ-5802-2021Introduction: We aimed to assess risk factors for lymph node (LN) metastasis among lymphovascular space invasion(LVSI)-positive women with pure endometrioid endometrial cancer (EC) clinically confined to the uterus. Methods: Medical records of women who underwent primary surgery for EC between 2007 and 2016 at either of 2 gynecological oncology centers were retrospectively reviewed. Patient data were analyzed with respect to LN involvement, and predictive factors for LN metastasis were investigated. Results: 280 patients with surgically staged endometrioid-type EC with LVSI were identified. LN involvement was detected in 88 patients (31.4%) with a systematic LN dissection. In multivariate analysis, elevated baseline serum CA 125 levels, deep myometrial invasion (MMI), adnexal involvement and positive peritoneal cytology were found to be independent risk factors for LN metastasis. In women without deep MMI and elevated baseline serum CA 125 levels, the rate of LN metastasis was 19%. The presence of solely deep MMI increased this probability up to 29.1%. The rate of LN metastasis was found to be 46.8% for women with both deep MMI and elevated baseline serum CA 125 levels. Conclusion: These findings may be useful in the decision- making process for LVSI-positive women who are unstaged. (c) 2018 S. Karger GmbH, FreiburgItem 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.