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A New Risk-Scoring System for Colorectal Cancer and Polyp Screening by Turkish Colorectal Cancer and Polyp Study Group
No full textBackground: Colorectal cancer is one of the most commonly diagnosed types of cancer worldwide. An early diagnosis and detection of colon cancer and polyp can reduce mortality and morbidity from colorectal cancer. Even though there are a variety of options in screening tests, the question remains on which test is the most effective for the early detection of colorectal cancer. In this prospective study, we aimed to develop a simple, useful, effective, and reliable scoring system to detect colon polyp and colorectal cancer. Methods: We enrolled 6508 subjects over the age of 18 from 16 centers, with colonoscopy screening. The age, smoking status, alcohol consumption, body mass index polyp incidence, polyp size, number and localization, and pathologic findings were recorded. Results: The age, male gender, obesity, smoking, and family history were found as independent risk factors for adenomatous polyp. We have developed a new scoring system which can be used for these factors. With a score of 4 or above, we found the following: sensitivity 81%, specificity 40%, positive predictive value 25.68%, and negative predictive value 89.84%, for adenomatous polyp detection; and sensitivity 96%, specificity 39%, positive predictive value 3.35%, negative predictive value 99.29%, for colorectal cancer detection. Conclusion: Even though the first colorectal cancer screening worldwide is generally performed for individuals over 50 years of age, we recommend that screening for colorectal cancer might begin for those under 50 years of age as well. Individuals with a score >= 4 must be included in the screening tests for colorectal cancer
<p>Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1</p>
No full textIntroduction: Next generation sequencing technologies allow detection of very rare pathogenic gene variants and uncover cerebral palsy. Herein, we describe two siblings with cerebral palsy due to ELOVL1 splice site mutation in autosomal recessive manner. ELOVL1 catalyzes fatty acid elongation to produce very long-chain fatty acids (VLCFAs; > C21), most of which are components of sphingolipids such as ceramides and sphingomyelins. Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies & nbsp;Methods: We have studied a consanguineous family with whole exome sequencing (WES) and performed in depth analysis of cryptic splicing on the molecular level using RNA. Comprehensive analysis of ceramides in the skin stratum corneum of patients using liquid chromatography-tandem mass spectrometry (LC-MS/MS). ELOVL1 protein structure was computationally modelled.& nbsp;Results: The novel c.376-2A > G (ENST00000372458.8) homozygous variant in the affected siblings causes exon skipping. Comprehensive analysis of ceramides in the skin stratum corneum of patients using LC-MS/MS demonstrated significant shortening of fatty acid moieties and severe reduction in the levels of acylceramides.& nbsp;& nbsp;Discussion:It has recently been shown that disease associated variants ofELOVL1segregate in an autosomal dominant manner.However, our study for the first time demonstrates an alternative autosomal recessive inheritance model forELOVL1. In conclu-sion, we suggest that in ultra-rare diseases, being able to identify the inheritance patterns of the disease-associated gene or genes canbe an important guide to identifying the molecular mechanism of genetic cerebral palsy. (C) 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.KAKENHI [JP18H03876, JP19K07060]; Turkish Academy of SciencesThis work was supported by KAKENHI Grant Numbers JP18H03876 (to A.K.) and JP19K07060 (to T.S.) . We also thank to Turkish Academy of Sciences for the 2019 Distinguished Young Scientist Award to SAUI
Outcomes of carotid sparing intensity-modulated radiotherapy for early stage glottic cancer in 201 patients: Multicenter study of Turkish Radiation Oncology Society/TROD-01-007
No full textBackground To assess and report clinical outcomes after carotid sparing intensity-modulated radiotherapy for early stage laryngeal cancer. Methods We retrospectively analyzed 201 patients with early stage glottic laryngeal cancer treated with carotid sparing intensity-modulated radiotherapy (IMRT)/volumetric modulated arc therapy (VMAT) techniques in six TROD centers. Results After a median follow-up of 31 months the actuarial 1- and 3-year local and locoregional control rates were 99.4% and 94.7%, 98.4% and 93%, respectively. T classification, anterior commissure involvement, IMRT technique, and type of fractionation were not found to be prognostic for local control. Overall, eight patients had lost their organ function due to recurrence or toxicity. Grade 3 and 4 acute laryngeal edema was seen in eight (4%) and one (0.5%) of patients, respectively. Grade 3 and 4 late laryngeal edema developed in two (1%) and one patient (0.5%), respectively. Conclusion Oncologic outcomes of patients treated with carotid sparing IMRT were excellent; comparable with historical series, with acceptable side effects. Longer follow-up is needed to estimate long term effect on stroke
Comparison of ceftazidime-avibactam susceptibility testing methods against OXA-48-like carrying Klebsiella blood stream isolates
No full textCeftazidime-avibactam exhibits good in vitro activity against carbapenem resistant Klebsiella carrying OXA-48-like enzymes. We tested two hundred unique carbapenem resistant Klebsiella blood stream isolates (71% with single OXA-48-like carbapenemases, including OXA-48, n = 62; OXA-232, n = 57; OXA-244, n = 17; OXA-181, n = 5) that were collected as part of a multicentre study against ceftazidime-avibactam using Etest (bioMerieux, Marcyl'Etoile, France), 10/4 mg disc (Thermo Fisher) and Sensititre Gram Negative EURGNCOL Plates (Lyophilized panels, Sensititre, Thermo Fisher) with the aim of comparing the performances of the Etest and disc to that of Sensititre. Ceftazidime-avibactam MIC50/90 was 2/> 16 mg/L for the entire collection and was 2/4 mg/L for single OXA-48-like producers. Categorical and essential agreements between the Etest and Sensititre were 100% and 97%, respectively. Categorical agreement between the disc and Sensititre was 100%. Etest and 10/4 mg discs are suitable alternatives to Sensititre for ceftazidime-avibactam sensitivity testing for OXA-48-like producers. (C) 2022 Elsevier Inc. All rights reserved.Pfizer Global Medical Grants [56644459]; Advance Queensland Industry Research Fellowship from the Queens-land GovernmentFunding This work was supported by Pfizer Global Medical Grants (grant number 56644459) . Dr Brian Forde?s research is supported by Advance Queensland Industry Research Fellowship from the Queens-land Government
General movements assessment and Alberta Infant Motor Scale in neurodevelopmental outcome of preterm infants
No full textAim: We aimed to compare the General Movement Assessment (GMA) and the Alberta Infant Motor Scale (AIMS) in preterm infants for the prediction of cerebral palsy (CP) and neurodeve-lopmental delay (NDD). Additionally, we aimed to evaluate the diagnostic compatibility of the General Movement Optimality Score (GMOS), the Motor Optimality Score (MOS), and AIMS for detecting CP and NDD.Method: Seventy-five preterm infants with gestational age (GA) 24-37 weeks were enrolled. Group 1 was composed of infants with 24-28 GA (n = 22); groups 2 and 3 consisted of infants with 29-32 GA weeks (n = 23) and 33-37 GA (n = 30) weeks, respectively. The infants were assessed during the writhing period, the fidgety period, and at 6-12 months of corrected age with GMOS, MOS, and AIMS, respectively.Results: In the writhing period, a cramped-synchronized pattern was observed in 17 (22%) in-fants, whereas a poor repertoire pattern was observed in 34 (45%) infants. In the fidgety period of the 63 infants, 29 (46%) presented with fidgety movements absent. The MOS and AIMS scores of the infants in group 1 were significantly lower than the other groups, which were statisti-cally significant (p = 0.004, p<0.00 1). High and positive compatibility (Kappa coefficient: 0.709; p = 0.001) was found between AIMS and GMOS scores and between AIMS and MOS scores (Kappa coefficient: 0.804; p < 0.001). In all groups, a statistically significant association was found between total GMOS scores (p = 0.003) and the presence of fidgety movements (p = 0.003). GMOS, MOS, and AIMS were found to be associated with CP and NDD (p < 0.001).Conclusion: GMA is an important tool for the prediction of CP and NDD. The combined use of GMOS, MOS, and AIMS may guide the clinical practice for the valid and reliable diagnosis of CP and NDD.Copyright 2022, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/ by-nc-nd/4.0/)
İSTANBUL’DA YAŞAYAN TÜRK NÜFUSUNDA 15 STR LOKUSUNDA GENETİK POLİMORFİZMLER
No full textObjective: Short:tandem repeats (STRs) are short sequences of nucleotides that are repeated and distributed all over the genome. These polymorphisms enable investigation of the forensic, ancestral lineage and evolutionary studies in human population. Owing to the historical migration and ethnic groups, it is very valuable to evaluate genetic distances in Turkey. The aim of the present study is to examine the STR data of Istanbul and compare the genetic distances and allele frequency with the previously published data of 27 countries from Europe, Asia, America, Africa and Middle East. Material and Method: Peripheral blood samples were obtained from 400 healthy individuals. DNA samples were amplified using a commercial kit. Multiplex STR-PCR (Applied Biosystems, Foster City, CA, USA) was used and the amplicons were evaluated on an ABI 3130 Genetic Analyzer. Results: Among all loci, D21S11 and D18S51 were the most polymorphic loci. The power of discrimination (PD) ranged from 0.8329 (TPDX) to 0.9722 (D18S51). The combined PD and probability of exclusion (PE) were found to he >0.99999999 and 0.99999671. respectively. Conclusion: In this study, six STR markers were selected to compare the genetic distances and allele frequency of the present results with the results of twenty-seven studies which were published previously. This study indicates that the population in Turkey is an intermediate between Europe, Middle East and Central Asia.related to the ethnic origins of the volunteers could not be obtained. This is a limitation of the study. The median age in the subject group was 46.3 (min.21, max.91 y) years. All subjects volunteered to participate in the study and were informed about the study. Written informed consent was obtained from all subjects. The procedures were carefully explained to all volunteers. The study was performed according to the amended Declaration of Helsinki and approved by the Clinical Research Ethics Committee of Haliç University (17.03.2011, 2011-03/02). This study was supported by the Scientific Research Fund of Haliç University
The effect of clinicopathologic findings of hepatocellular carcinoma on posttransplant survival: a multcenter cohort from TASL liver transplantation special interest group
No full text[No Abstract Available
Çocukluk Çaǧl ALL Hastalarlnda HLA DRB1 Alelleri, IFN-γve TGF-β Gen Varyantları
No full textGraft-versus-host disease (GvHD) is a complex clinical syndrome with organ dysfunction as a consequence of a severe immunological reaction mediated by mainly T cells after hematopoietic stem cell transplantation. Our aim is to evaluate the association of HLA-DRB1 alleles, IFN-γand TGF-β gene variations, with childhood ALL (c-ALL) patients and with GvHD after transplantation. This study included 30 high-risk c-ALL patients and 100 controls. HLA-DRB1 alleles were studied by the NGS method, and TGF-β and IFN-γvariations were studied by the PCR-RFLP method. The rates of HLA-DRB1∗15 alleles and IFN-gamma CC genotype were significantly higher in c-ALL patients (p=0.004, p=0.036 respectively). Association of the HLA-DRB1∗15 alleles with the TGF-β TC genotype was found with a higher rate in the patient group (p=0.031). Association of the DRB1∗04 allele with the IFN-γCC genotype was found with a higher rate in the patient group (p=0.028). Acute GvHD developed in eight of 19 patients who underwent transplantation. IFN-γCT was found to have a protective role in occurrence of aGvHD (p=0.044). Association of the DRB1∗15 allele with IFN-γTT was found with a higher rate in a GvHD (p=0.050). It is thought that polymorphism of HLA-DR15 and IFN-γCC may contribute to the development of c-ALL, while IFN-γCT might be protective for aGvHD. © 2022Istanbul Üniversitesi: 13.11.2020Ethical approval: Ethics committee approval was not received due to the retrospective nature of the study. This work was supported by the Clinical Research Ethics Committee of Istanbul University (13.11.2020, no:28). This study was approved by the ethical review boards of the Istanbul University, Istanbul, Turkey, and conducted in accordance with the standards of the Declaration of Helsinki
Demonstration of ameliorating effect of vardenafil through its anti-inflammatory and neuroprotective properties in autism spectrum disorder induced by propionic acid on rat model
No full textIntroduction Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex etiology. In this study, we aimed to determine the ameliorating effects of vardenafil in the ASD rat model induced by propionic acid (PPA) in terms of neurobehavioral changes and also support these effects with histopathological changes, brain biochemical analysis and magnetic resonance spectroscopy (MRS) findings. Materials and methods Twenty-one male rats were randomly assigned into three groups. Group 1 (control, 7 rats) did not receive treatment. Rats in groups 2 and 3 were given PPA at the dose of 250 mg/kg/day intraperitoneally for 5 days. After PPA administration, animals in group 2 (PPAS, 7 rats) were given saline and animals in group 3 (PPAV, 7 rats) were given vardenafil. Behavioral tests were performed between the 20th and 24th days of the study. The rats were taken for MRS on the 25(th) day. At the end of the study, brain levels of interleukin-2 (IL-2), IL-17, tumor necrosis factor-alpha, nerve growth factor, cGMP and lactate levels were measured. In the cerebellum and the CA1 and CA3 regions of the hippocampus, counts of neurons and Purkinje cells and glial fibrillary acidic protein (associated with gliosis) were evaluated histologically. Results Three chamber sociability and passive avoiding test, histopathological results, lactate levels derived from MRS, and biochemical biomarkers revealed significant differences among the PPAV and PPAS groups. Conclusion We concluded that vardenafil improves memory and social behaviors and prevent loss of neuronal and Purkinje cell through its anti-inflammatory and neuroprotective effect
Evaluation of ganglion cell complex and retinal nerve fiber layer in children with spina bifida using optical coherence tomography
No full textPurpose: Spina bifida (SB) is a congenital disorder caused by the incomplete fusion of the embryonic neural tube during spinal cord development. In this study, we used Spectral Domain Optic Coherence Tomography (SD-OCT) for retinal nerve fibre layer (RNFL) and ganglion cell complex (GCC) analyses and compared the results of healthy children and SB patients in a similar age group. Methods: Our study was planned prospectively and conducted between June 2017 and July 2019. One hundred eyes of 50 participants, consisting of 28 SB patients and 22 healthy children were included. In all cases, RNFL and GCC measurements were undertaken using SD-OCT. The circumpapillary RNFL analysis was conducted by examining the circular area of 3.45 mm in diameter around the centre of the optic disc. GCC parameters were determined with MM7 protocols by taking 15 vertical sections from a 7-mm macular square centred in the fovea. Results: The mean GCC thickness of the participants was 91.120 ± 5.224 µm in the control group and 91.696 ± 7.410 µm in the SB group. The difference between the two groups was not statistically significant (p > 0.05). The mean RNFL thickness was 102.499 ± 11.250 µm in the control group and 99.549 ± 15.235 µm in the SB group. The mean RNFL thickness of the patients in the SB group was lower than that of the control group, but the difference was not statistically significant (p > 0.05). Conclusions: In this study, the lack of a statistically significant difference in the RNFL and GCC values between the SB and control groups can be attributed to successful clinical management. © 2022The author(s) received no financial support for the research, authorship, and/or publication of this article