Publications by authors named "Demirhan O"

Global developmental delay (GDD)/intellectual disability (ID) is common in children and its etiology is unknown in many cases. Chromosomal abnormalities are predominant genetic causes of GDD/ID. The aim of this study is to determine the genetic risk factors that may be involved in the etiology of GDD/ID.

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Cytogenetic analysis is helpful in diagnostic workup of patients having prenatal or early postnatal medical problems and provides a basis for genetic counseling or deciding on clinical treatment options. Chromosomal abnormalities (CAs) constitute one of the most important category of genetic defects which have the potential to cause irreversible disorders. In this study, chromosome analysis results of 11,420 patients having congenital malformations or suspected of having chromosomal abnormalities, who were referred to Çukurova University Research and Training Hospital Cytogenetic Laboratory over a 16-year period, were investigated, retrospectively.

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The acquisition of habitual bipedal locomotion, which resulted in numerous modifications of the skeleton was a crucial step in hominid evolution. However, our understanding of the inherited skeletal modifications versus those acquired while learning to walk remains limited. We here present data derived from X-rays and CT scans of quadrupedal adult humans and compare the morphology of the vertebral column, pelvis and femur to that of a bipedal brother.

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Sertraline (SRT) is an antidepressant agent used as a neuronal selective serotonin-reuptake inhibitor (SSRI). SRT blocks serotonin reuptake and increases serotonin stimulation of somatodendritic serotonin 1A receptor (5-HT1AR) and terminal autoreceptors in the brain. In the present study, the genotoxic potential of SRT was evaluated using cytokinesis-block micronucleus (CBMN) cytome assay in peripheral blood lymphocytes of healthy human subjects.

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We described disease characteristics, management and outcome of a group of Behçet's syndrome (BS) patients who underwent pulmonary lobectomy, segmentectomy or various pleura interventions for complications due to pulmonary artery or descending aorta involvement. There were 9 patients with BS (8 M/1 F; mean age: 24.8 ± 7.

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Background/aim: The genetic background of Turner syndrome (TS) is highly variable. The correlation between genotype and phenotype is not yet well understood. The aim of this study was to describe the frequencies and distributions of Turner karyotypes and to discuss the phenotype/genotype relation in a very large group of individuals with TS.

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Background/aim: Sagliker syndrome (SS) develops as a continuation of chronic kidney disease and secondary hyperparathyroidism conditions. It was thought that there are some genetic predisposition factors leading to SS. The calcium-sensing receptor (CaSR) is essential for calcium homeostasis in the body.

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Purpose: We compared open, video-assisted and robotic-assisted thoracoscopic surgical techniques in the dissection of N1 and N2-level lymph nodes during surgery for lung cancer.

Methods: This retrospective analysis is based on prospectively collected data of patients (excluding those with N2 or N3 diseases, and sleeve resections) undergoing mediastinal lymph node dissection via open (n = 96), video-assisted thoracoscopy (n = 68), and robotic-assisted thoracoscopy (n = 106). The groups are compared according to the number of lymph node stations dissected, the number of lymph nodes dissected, and the number of lymph nodes dissected by stations.

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Introduction: The aim of the study was to assess whether a cardiac troponin T (cTnT) level 1 ng/ml or below threshold is safe and to evaluate mid-term follow-up results in stable patients with non-ST-segment elevation after acute myocardial infarction.

Material And Methods: Among cTnT positive patients who presented to the emergency unit with chest pain and received coronary angiography, 100 patients who underwent isolated coronary artery bypass grafting (CABG) constituted the study group (group 1). The same number of patients (n = 100) who were cTnT negative and underwent an isolated CABG operation under elective conditions were selected as the control group (group 2).

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Introduction: The Nuss procedure is suitable for prepubertal and early pubertal patients but can also be used in adult patients.

Aim: To determine whether the minimally invasive technique (MIRPE) can also be performed successfully in adults.

Material And Methods: Between July 2006 and January 2016, 836 patients (744 male, 92 female) underwent correction of pectus excavatum with the MIRPE technique at our institution.

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Aim Of The Study: Sunitinib-related side effects may develop as a result of the pharmacokinetic pathway affects the of the drug.

Material And Methods: Data on mRCC patients were obtained from the hospital archives. Outcomes of patients were evaluated in terms of related prognostic factors, sunitinib adverse events during the treatment, and two different sunitinib dosing schedules.

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We aimed to evaluate the effect of GSM-like radiofrequency electromagnetic radiation (RF-EMR) on the oogenesis, and spermiogenesis of Xenopus laevis, and so the development of the embryos obtained from Normal Females+Normal Males (i.e. "N(F)+N(M)"); Normal Females+RF-exposed Males (i.

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Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease.

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In this retrospective study, karyotype results of 1510 couples with a history of recurrent spontaneous abortion were evaluated. The study was conducted at Balcalı Hospital in Adana region of Turkey. For all cases, peripheral blood lymphocytes were cultured for chromosome study using the standard method.

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The aim of this study was to compare the mid and long term postoperative outcomes between the hemodialysis-dependent patients awaiting kidney transplantat who underwent open heart surgery in our department during the last five years, and those who did not receive a renal transplant, to determine the predictors of mortality, and assess the possible contribution of post heart surgery kidney transplantation to survival. The patients were separated into two groups: those who underwent a transplantation after open heart surgery were included in the Tp+ group, and those who did not in the Tp- group Between June 2008 and December 2012, 127 dialysis dependent patients awaiting kidney transplant and who underwent open heart surgery were separated into two groups. Those who underwent transplantation after open heart surgery were determined as Tp+ (n=33), and those who did not as Tp- (n=94).

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A 54-year-old man presented with sudden and severe abdominal pain, and vomiting. He had underwent a right pneumonectomy with bronchial stump reinforcement using diaphragmatic muscle flap 9 years ago, due to non-small cell lung cancer after neoadjuvant chemotherapy. A right partial visceral herniation had been detected 5 years ago during the follow-up which was not present at previous visits.

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Background: The aim of this study was to analyze our initial pulmonary resection experience with robotic surgery (Da Vinci, Intuitive Surgical, Inc., Mountain View, California, USA) and define the learning curve based on the duration of operations.

Methods: A retrospective review was conducted on patients undergoing robotic pulmonary resections from October 2011 to December 2014.

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The phenomenon of feta-maternal microchimerisms inspires numerous questions. Many questions remain to be answered regarding this new avenue of genetics. The X and Y chromosomes have been associated with malignancy in different types of human tumors.

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Jarcho-Levin syndrome (JLS) is a congenital disorder consisting of various vertebral and costal anomalies. Congenital heart defects, abdominal wall malformations, urogenital and anal abnormalities, multiple skeletal anomalies, upper limb anomalies, spina bifida, and inguinal, umbilical and diaphragmatic hernias can be seen as components of JLS. Spina bifida appears to be a common finding in reported JLS cases.

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Article Synopsis
  • Sagliker syndrome (SS) mainly develops before puberty and is linked to chronic kidney disease (CKD) that reaches stage 3 with secondary hyperparathyroidism.
  • In a study of 23 patients, genetic screening revealed mutations in the GNAS1, FGF23, and FGFR3 genes, with a significant 73.9% of patients showing abnormalities in the GNAS1 gene.
  • The findings suggest that these genetic mutations could be influencing the manifestation of bone deformities associated with SS, potentially acting as a link between different bone dysplasias and hereditary conditions related to CKD.
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The aim of this study was to investigate the effects of GSM-like radiofrequency electromagnetic radiation (RF EMR) and nicotine sulfate (NS) exposure on Xenopus embryonic development.The developmental effects of GSM-like RF-EMR (900-1800 MHz, at a SAR value of 1W/kg and NS on Xenopus laevis embryos were investigated). Following the application of radiofrequency radiation and/or NS administration, the embryos were closely examined in order to determine their possible teratogenic effects.

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Objective: Surgical use of robots has evolved over the last 10 years. However, the academic experience with robotic lung segmentectomy remains limited. We aimed to analyze our lung segmentectomy experience with robot-assisted thoracoscopic surgery.

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Study Objective: To estimate the frequency and the type of chromosomal abnormalities (CA) in patients with primary (PA) and secondary amenorrhea (SA).

Design: This retrospective study was comprised of patients had been referred to our laboratory between 1990 to 2008 and designed as original article.

Setting: Medical Faculty of Cukurova University in Turkey.

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