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Öğe Assessment of suicide probability and related factors in male incarcerated adolescents; a sample of reformatory center in Turkey(Pergamon-Elsevier Science Ltd, 2021) Karatoprak, Serdar; Ayaz, Nusret; Donmez, Yunus Emre; Dogan, MustafaObjective: Suicidal behavior in adolescents is an important public health problem, and it ranks first among the causes of prison deaths in incarcerated adolescents(IAs). The aim of this study is to determine the probability of suicide and associated risk factors in IAs. Method: Seventy-one male adolescents in a reformatory center were contrasted with a matched group of 71 male adolescent with no psychiatric disorder and no criminal record. Suicidal probability and psychiatric symptomatology were assessed with the Suicide Probability Scale, SA-45 Questionnaire, respectively. Results: It was determined that the probability of suicide was higher in IAs, and depression and hostility symptoms, the presence of another individual involved in delinquency in family had predictive effects. It was also found that there was a positive correlation between the probability of suicide and the number of delinquencies, the number of incarceration, and a negative correlation between attending to school or work while in reformatory and being visited by relatives while in reformatory. Conclusions: The results suggest that when assessing suicide risk for IAS, it may be useful to pay attention to those with symptoms of depression or hostility, those with multiple delinquencies or entrance to reformatory, and those who have family members involved in delinquency.Öğe Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene(Taylor & Francis Inc, 2021) Dogan, Mustafa; Eroz, Recep; Ozturk, EmrahPurpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by sanger sequencing. Also, review of 28 molecularly confirmed patients with BNHS from the literature was evaluated. Results: We identified a missense homozygous variant (c.3524 C > G (p.Ser1175Cys)) in the PNPLA6 gene, which explains the phenotype of the patient and neurologic, ophthalmologic, endocrine, and genetic evaluations established a diagnosis of BNHS. Symptoms, ethnicity, clinical and genetic findings of 28 molecularly confirmed patients with BNHS from the literature were also presented. Conclusion: We present the main findings of a Turkish family with BNHS together with detailed clinical and genetic profiles of patients diagnosed as BNHS that have been molecularly confirmed in the literature so far.Öğe Clinical and Molecular Findings in a Turkish Family Who Had a (c.869-1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis(Bentham Science Publ Ltd, 2022) Dogan, Mustafa; Eroz, Recep; Tecellioglu, Mehmet; Gezdirici, Alper; Cevik, Betul; Baris, IbrahimBackground: Early-onset Alzheimer's disease (EOAD) is commonly diagnosed with an onset age of earlier than 65 years and accounts for 5-10% of all Alzheimer's disease (AD) cases. To date, although only 10-15% of familial EOAD cases have been explained, the genetic cause of the vast proportion of cases has not been explained. The variant Alzheimer's disease with spastic paraparesis (varAD) is defined as a rare clinical entity characterized by early-onset dementia, spasticity of the lower extremities, and gait disturbance. Although the disease was first associated with variants in exon 9 of the PSEN1 gene, it was later shown that variations in other exons were also responsible for the disease. Objective: The current study aims to raise awareness of varAD, which occurs as a rare phenotype due to pathogenic variants in PSEN1. In addition, we aimed to evaluate the spectrum of mutations in varAD patients identified to date. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by Sanger sequencing. Also, a review of the molecularly confirmed patients with (varAD) from the literature was evaluated. Results: We identified a heterozygous splicing variant (c.869-1G>A) in the PSEN1 gene, in a family with two affected individuals who present with varAD. We reported the clinical and genetic findings from the affected individuals. Conclusion: We present the detailed clinical and genetic profiles of a Turkish patient with the diagnosis of varAD together with subjects from the literature. Together, we think that the clinical characteristics and the effect of the (c.869-1G>A) variant will facilitate our understanding of the PSEN1 gene in AD pathogenesis.Öğe Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism(Galenos Publ House, 2023) Ciftci, Nurdan; Akinci, Aysehan; Akbulut, Ekrem; Camtosun, Emine; Dundar, Ismail; Dogan, Mustafa; Kayas, LemanObjective: Idiopathic hypogonadotropic hypogonadism (IHH) is classified into two groups-Kalman syndrome and normosmic IHH (nIHH). Half of all cases can be explained by mutations in >50 genes. Targeted gene panel testing with nexrt generation sequencing (NGS) is required for patients without typical phenotypic findings. The aim was to determine the genetic etiologies of patients with IHH using NGS, including 54 IHH-associated genes, and to present protein homology modeling and protein stability analyzes of the detected variations.Methods: Clinical and demographic data of 16 patients (eight female), aged between 11.6-17.8 years, from different families were assessed. All patients were followed up for a diagnosis of nIHH, had normal cranial imaging, were without anterior pituitary hormone deficiency other than gonadotropins, had no sex chromosome anomaly, had no additional disease, and underwent genetic analysis with NGS between the years 2008-2021. Rare variants were classified according to the variant interpretation framework of the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology. Changes in protein structure caused by variations were modeled using RoseTTAFold and changes in protein stability resulting from variation were analyzed.Results: Half of the 16 had no detectable variation. Three (18.75%) had a homozygous (pathogenic) variant in the GNRHR gene, one (6.25%) had a compound heterozygous [likely pathogenic-variants of uncertain significance (VUS)] variant in PROK2 and four (25%) each had a heterozygous (VUS) variant in HESX1, FGF8, FLRT3 and DMXL2. Protein models showed that variants interpreted as VUS according to ACMG could account for the clinical IHH.Conclusion: The frequency of variation detection was similar to the literature. Modelling showed that the variant in five different genes, interpreted as VUS according to ACMG, could explain the clinical IHH.Öğe Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism (vol 15, pg 160, 2023)(Galenos Publ House, 2023) Ciftci, Nurdan; Akinci, Aysehan; Akbulut, Ekrem; Camtosun, Emine; Dundar, Ismail; Dogan, Mustafa; Kayas, Leman[Abstract Not Available]Öğe Clinical results of primary repair with silicone tube intubation after traumatic injury of lacrimal canalicular system(2021) Erogul, Ozgur; Dogan, Mustafa; Hamisi Gobeka, HamiduAim: To evaluate clinical results of primary repair with silicone tube intubation after traumatic injury of lacrimal canalicular system. Materials and Methods: Fifteen patients applied to ophthalmology clinic at Afyonkarahisar Health Sciences University between January 2010 and May 2020 with traumatic injury of lacrimal canaliculi were included in the study. Data including the patients’ demographic characteristics, causes of injury, time between trauma and surgery, surgical technique, post-operative time of silicone tube removal, post-operative follow-up period, and anatomical as well as functional outcomes were retrieved from the patients’ clinical records. Results: Mean age of the patients was 26±22.5 (3 to 70 years) years (13 males, 2 females). Ten patients (66.6%) had blunt trauma, whereas penetrating injury was detected as causative factor of trauma in five patients (33.3%). Twelve patients (80%) had isolated lower canalicular injury, two (13.3%) had upper canalicular injury, and the remaining one (6.7%) had both lower and upper canalicular injury. The primary surgical repair with silicone tube intubation was performed in all patients. Twelve patients (80%) had successful anatomical and functional outcomes. Post-operative ptosis was detected in one patient. Although two patients (13.3%) underwent re-operation at another center, status their functional success could not be acquired. Conclusion: Annular intubation with the silicon tube can be used as an effective method for providing anatomical and functional integrity of the drainage system after blunt and / or penetrating traumatic injuries of the lacrimal canaliculi.Öğe Colistin nephrotoxicity increases with age(Informa Healthcare, 2014) Balkan, Ilker Inanc; Dogan, Mustafa; Durdu, Bulent; Batirel, Ayse; Hakyemez, Ismail N.; Cetin, Birsen; Karabay, OguzBackground: Colistin (COL) has become the backbone of the treatment of infections due to extensively drug-resistant (XDR) Gram-negative bacteria. The most common restriction to its use is acute kidney injury (AKI). Methods: We conducted a retrospective cohort study to evaluate risk factors for new-onset AKI in patients receiving COL. The cohort consisted of 198 adults admitted to 9 referral hospitals between January 2010 and October 2012 and treated with intravenous COL for >= 72 h. Patients with no pre-existing kidney dysfunction were compared in terms of risk factors and outcomes of AKI graded according to the RIFLE criteria. Logistic regression analysis was used to identify associated risk factors. Results: A total of 198 patients met the inclusion criteria, of whom 167 had no pre-existing kidney dysfunction; the mean patient age was 58.77 (+/- 18.98) y. Bloodstream infections (34.8%) and ventilator-associated pneumonia (32.3%) were the 2 most common indications for COL use. New-onset AKI developed in 46.1% of the patients, graded as risk (10%), injury (15%), and failure (21%). Patients with high Charlson co-morbidity index (CCI) scores (p = 0.001) and comparatively low initial glomerular filtration rate (GFR) estimations (p < 0.001) were more likely to develop AKI, but older age (p = 0.001; odds ratio 5.199, 95% confidence interval 2.684-10.072) was the major predictor in the multivariate analysis. In-hospital recovery from AKI occurred in 58.1%, within a median of 7 days. Conclusions: COL-induced nephrotoxicity occurred significantly more often in patients older than 60 y of age and was related to low initial GFR estimations and high CCI scores, which were basically determined by age.Öğe Does transcription factor, induced by daptomycin and vancomycin, affect HIF-1α, Chondroadherin, and COL2A1?(2018) Karaarslan, Numan; Yilmaz, Ibrahim; Yasar Sirin, Duygu; Ozbek, Hanefi; Kaya, Yasin Emre; Akyuva, Yener; Kaplan, Necati; Dogan, Mustafa; Gumustas, Seyit Ali; Erdem, Ilknur; Ates, OzkanAim: In this study, it was firstly aimed to investigate the effect of Daptomycin (DAP) on the proliferation in Vancomycin (VCM)- administered primary chondrocyte cultures and non-drug-administered primary chondrocyte cultures. Our second objective was to investigate the effects of DAP and VCM on the NP-specific marker protein chondroadherin (CHAD), which is associated with spinal cord and dorsal column growth, on the transcription factor-1 alpha (HIF-1α), which is induced by hypoxia, and on a type II collagen (COL2A1), which is also known to play a significant role in the development of extracellular matrix, at the pharmaco-molecular level. Material and Methods: Standard human primary chondrocyte cultures were established. DAP and VCM were added to the samples. In all groups, molecular analysis was performed at 0th, 24th and 48th hours. In addition, the surface morphology of the cells was evaluated. Results: Changes in cell morphology and cell death in cultures were observed 24 hours after administration of antibiotics to cell cultures. It was observed that drug administration was associated with the cell viability and that cell viability rate for two antibiotics was similar at the 0th and 48th hours. The expression of three genes decreased at the 24th hour in the experimental group where DAP was administered. Conclusion: Thanks to this molecular-based research, it should not be forgotten that DAP and VCM active pharmacological agents, especially used in the treatment of Methicillin-resistant Staphylococcus aureus induced surgical infections, have a negative effect on human chondrocyte and ECM components.Öğe Early Stage Pulmonary Embolism Because of Stab Wound Injury Without Vascular Penetration(Aves, 2017) Petekkaya, Semih; Ayaz, Nusret; Dogan, Mustafa; Oruc, Mucahit; Okdemir, Erdem; Celbis, OsmanIntroduction: Pulmonary embolism, occurring as a result of acute obstruction of the pulmonary artery system, may vary from the frequently observed asymptomatic clinical state to sudden death and is a disease with high morbidity and mortality rates. Pulmonary embolism is most commonly observed within 5-7 days of trauma and has been occasionally reported before 4 days. Case Report: A 40-years-old female was admitted to emergency service with a knife wound injury. Her vital and laboratory values were normal. Physical examination revealed a knife wound injury, measuring 2 x 1 cm, on the femoral midline of the left leg. Then, she was discharged. After approximately 6 h, she presented to another emergency service with complaints of chest pain and syncope. During evaluation, she developed cardiopulmonary arrest and died because of pulmonary embolism. Conclusion: This report presents a case of early stage pulmonary embolism that developed because of circulation disruption caused by the effect of pressure as a result of a localized hematoma owing to an indirect effect of a stab wound injury with no vascular penetration injury.Öğe Evaluation of neutrophil-to-lymphocyte ratio as a marker of inflammatory response in spondylodiscitis(2018) Karaarslan, Numan; Yilmaz, Ibrahim; Caliskan, Tezcan; Akgun, Feride Sinem; Bilir, Bulent; Dogan, Mustafa; Ates, OzkanAim: Spondylodiscitis, if not diagnosed on time, can cause morbidity or mortality at high rates. This study was carried out with the aim of testing the hypothesis that “neutrophil-to-lymphocyte ratio can be used” especially in cases where it is difficult to diagnose spondylodiscitis. Material and Methods: This study involved 24 patients admitted to the State Hospital of Ministry of Health and Namik Kemal University for spondylodiscitis between January2014 and June2017. After excluding the cases that did not meet the inclusion criteria (n=6), the remaining cases (n=24) were referred to as the study group. A control group was created from healthy volunteers (n=24) who applied for routine physical checkups at the clinic between the same dates and who were similar in terms of age, sex, and body mass index to the study group. Hemogram parameters of the cases in both groups; white blood cell, C-reactive protein, erythrocyte sedimentation rate, and neutrophil-to-lymphocyte ratio were statistically compared. Results: Patients in the spondylodiscitis group, compared to healthy volunteers had statistically significant neutrophil-to-lymphocyte ratio value. Conclusion: Especially in cases where the diagnosis of spondylodiscitis is not assured, the neutrophil-to-lymphocyte ratio parameter, which is less costly than other diagnostic methods and the analysis results of which can be obtained in a shorter time, may be used to support clinical diagnosis.Öğe Impacts of intravitreal anti-VEGF therapy on retinal anatomy and neurophysiology in diabetic macular edema(Springer, 2021) Yozgat, Zubeyir; Dogan, Mustafa; Sabaner, Mehmet Cem; Gobeka, Hamidu Hamisi; Yazgan Akpolat, SerpilPurpose To evaluate anatomical and neuroretinal functional aspects in patients with diabetic macular edema (DME) after intravitreal anti-vascular endothelial growth factor (VEGF) therapy, in particular aflibercept. Materials and methods This prospective single-centered interventional study was performed at Afyonkarahisar Health Science University Faculty of Medicine, Department of Ophthalmology, where 32 eyes of 32 patients with DME were investigated. All patients received five intravitreal aflibercept injections on a monthly basis and were followed up for >= 6 months. After a comprehensive ophthalmological examination, including the measurements of visual acuity and intraocular pressure, and an antero-posterior segment slit-lamp biomicroscopy before and after full pupil dilation, fundus fluorescein angiography and optical coherence tomography were performed at baseline and during the third and sixth months post-therapy. Microperimetry and multifocal electroretinography were also performed at baseline and during the sixth months. Results Mean visual acuity increased from 0.73 to 0.57 and 0.33 logarithm of the minimum angle of resolution (logMAR) during the third and sixth months, respectively (p < 0.001). Changes in intraocular pressure were not statistically significant (p = 0.472). There was statistically significantly decreased mean central macular thickness from 390.2 mu m to 242.6 and 289.7 mu m during the third and sixth months, respectively (p < 0.001). Significantly improved fixation patterns during the sixth month, along with significantly increased macular sensitivity from 8.2 to 14.2 dB (p < 0.001) and significantly decreased local deficit from - 10.3 to 5.5 dB (p < 0.001) were observed. Further, there was a significantly increased N1 amplitude in the first ring and significantly increased P1 amplitude in all rings (p for each parameter < 0.05). There was also significantly decreased N1 wave implicit time in all rings and significantly decreased P1 wave in the second, third, fourth and fifth rings (p for each parameter < 0.05). Conclusions Patients with DME showed profound improvement in the retinal neurophysiological function, which was also accompanied by anatomical and ultrastructural integrity recovery after intravitreal aflibercept therapy. In the pathogenesis of DME, the influence of neurodegeneration has been increasingly gaining significant attention. Consequently, the need to assess neurophysiological effects of anti-VEGF therapy using a variety of diagnostic measures like electrophysiological studies and multimodal imaging technologies is undeniably growing.Öğe An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants(Springernature, 2021) Gezdirici, Alper; Terali, Kerem; Gulec, Elif Yilmaz; Bornaun, Helen; Dogan, Mustafa; Eroz, RecepMarfan syndrome (MFS) is an autosomal dominant genetic condition that mainly affects connective tissue in many parts of the body. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. The diagnosis of MFS relies on the revised Ghent criteria, outlined by international expert opinion to facilitate accurate recognition of this syndrome as well as to improve patient management and counseling. However, it may not always be possible to make a definitive diagnosis according to these criteria in each patient and thus molecular confirmation is necessary in subjects with suspected MFS. This debilitating, if not fatal, disorder is caused by mutations in FBN1, which encodes a major constitutive element of extracellular microfibrils. Here, we present a detailed clinical and molecular analysis of 76 Turkish patients with definitive or suspected MFS diagnosed at our center between 2014 and 2019. We were able to identify a total of 51 different FBN1 variants in our cohort, 31 of which have previously been reported in the relevant scientific literature. The remaining 20 variants have not been documented to date. In one patient, we detected a large deletion including the entire FBN1 gene using the array CGH approach. Currently, there are very few studies on the genotype-phenotype correlation of patients with MFS, and no clear genotype-phenotype maps for MFS have been constructed so far, except for some cases. We believe that our findings will make a rich and peculiar contribution to the elusive genotype-phenotype relationship in MFS, especially in this large and populous ethnic group.Öğe The relationship between phenotypical findings and different karyotypes in children with turner syndrome(2021) Bolu, Semih; Eroz, Recep; Arslanoglu, Ilknur; Dogan, MustafaAim: Turner syndrome (TS) is the most common chromosomal disorder in girls. Several systems can be adversely affected in association with genetic disorders. The purpose of this study was to examine the karyotype distribution in patients with TS, frequently seen clinical characteristics, and their relations with the karyotypes.Materials and Methods: Fifty-four cases ranging in age between two and 40 years and diagnosed with TS at three different centers in Turkey between May 2013 and June 2019 were evaluated retrospectively. Results: The patients’ mean age was 17.5±9.3 years. The most common chromosomal anomaly was 45,X (35.2%), followed by low-level mosaic (20.4%), isochromosome (18.5%), deletion (9.3%) and other chromosomal disorders (16.7%). The most common presentation symptom was short stature (66.6%), followed by infertility (12.9%). Cardiovascular pathology was determined in 33.3% of cases, hypothyroidism in 25.9%, ophthalmological problems in 24.1%, renal anomaly in 18.5%, hearing loss in 12.9%, and scoliosis in 9.3% and mental retardation in 16.6%. Obesity was present in 33.3% of cases.Conclusion: Turner Syndrome is a chromosomal disorder affecting several systems. Clinical manifestations in patients with TS can be affected to varying degrees depending on the karyotype.
