Goztepe Educational and Research Hospital

İstanbul, Turkey

Goztepe Educational and Research Hospital

İstanbul, Turkey
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Acar C.,Acibadem University | Bilen C.,Hacettepe University | Bayazit Y.,Cukurova University | Aslan G.,Dokuz Eylül University | And 3 more authors.
Urology Journal | Year: 2014

Purpose: To compare the quality of life (QoL) of renal cancer patients following laparoscopic and open radical nephrectomy. Materials and Methods: Seventy-two (64.9%) patients who were treated with open radical nephrectomy (ORN group) and 39 (35.1%) patients who were treated with laparoscopic radical nephrectomy (LRN group) were included in this study. QoL was evaluated by Short Form-36 (SF-36) physical domain scores obtained before surgery, 1 and 6 months after surgery. Analgesic requirement and visual analog scale (VAS) pain scores following surgeries were recorded. Results: The demographic features of the groups were similar. There was a significant difference in tumor size between the ORN group (71.59 ± 29.83 mm) and LRN group (57.08 ± 19.33 mm) (P = .011). In the LRN group there was less blood loss, a lower transfusion rate, earlier ambulation, more rapid convalescence and shorter hospitalization; however, the difference in surgical duration between the ORN group (122.86 ± 36.8 min) and LRN group (140.17 ± 50.71 min) was not significant (P = .383). Analgesic requirement and VAS pain scores were similar in both groups. In terms of SF-36 physical domain scores, the general health perception score in the LRN group was higher than that in the ORN group at pre-surgery, 1 and 6 months after surgery. SF-36 physical functioning and general health perception scores in both groups were significantly lower in 1 month after surgery and were higher in 6 months after surgery, as compare to before surgery. Bodily pain scores in LRN group did not change significantly after surgery (P = .376). Conclusion: LRN exhibited some technical advantages, including less blood loss, shorter hospitalization and more rapid recovery. Although the ORN patients had relatively larger tumors, analgesic requirement, postoperative complications, body pain, and physical functioning weren't significantly different between the groups. QoL was higher 6 months after surgery than before surgery in both groups.


Flanagan S.E.,University of Exeter | Xie W.,University of Exeter | Caswell R.,University of Exeter | Damhuis A.,Royal Devon and Exeter National Health Service Foundation Trust | And 22 more authors.
American Journal of Human Genetics | Year: 2013

Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing. Exome sequencing of the coding regions and conserved splice sites has been very successful in the identification of disease-causing mutations, and targeting of these regions has extended clinical diagnostic testing from analysis of fewer than ten genes per phenotype to more than 100. Noncoding mutations have been less extensively studied despite evidence from mRNA analysis for the existence of deep intronic mutations in >20 genes. We investigated individuals with hyperinsulinaemic hypoglycaemia and biochemical or genetic evidence to suggest noncoding mutations by using NGS to analyze the entire genomic regions of ABCC8 (117 kb) and HADH (94 kb) from overlapping ∼10 kb PCR amplicons. Two deep intronic mutations, c.1333-1013A>G in ABCC8 and c.636+471G>T HADH, were identified. Both are predicted to create a cryptic splice donor site and an out-of-frame pseudoexon. Sequence analysis of mRNA from affected individuals' fibroblasts or lymphoblastoid cells confirmed mutant transcripts with pseudoexon inclusion and premature termination codons. Testing of additional individuals showed that these are founder mutations in the Irish and Turkish populations, accounting for 14% of focal hyperinsulinism cases and 32% of subjects with HADH mutations in our cohort. The identification of deep intronic mutations has previously focused on the detection of aberrant mRNA transcripts in a subset of disorders for which RNA is readily obtained from the target tissue or ectopically expressed at sufficient levels. Our approach of using NGS to analyze the entire genomic DNA sequence is applicable to any disease. © 2013 The American Society of Human Genetics.


Verim A.,Haydarpasa Numune Educational and Research Hospital | Faruk Calim O.,Bezmialem Foundation University | Yenigun A.,Bezmialem Foundation University | Kocagoz G.D.,Bezmialem Foundation University | And 2 more authors.
Journal of Cranio-Maxillofacial Surgery | Year: 2012

Malformation of the inner nose is often found in conjunction with different types of cleft palate or may be seen with severe and complex craniofacial anomalies. Among such malformations, however, isolated vomer aplasia is rarely reported in the literature. This study sets forth our findings that congenital vomeral defect of the nasal septum is an isolated disorder with hereditary characteristics. Between 2001 and 2009, nine cases of isolated congenital vomeral bone defect were detected on endoscopic examination of patients referred to our clinic with nasal and otologic complaints. The files of these patients were reviewed and vomer aplasia was identified as an isolated hereditary condition with concomitant sinonasal symptoms. The defect of the posteroinferior part of the nasal septum was defined as a genetic disease presenting with no significant medical problems. Chromosomal analysis of these patients may help to reveal the relationship of this anomaly with different malformations of the maxillofacial complex. © 2011 European Association for Cranio-Maxillo- Facial Surgery.


Guven A.,Goztepe Educational and Research Hospital | Hancili S.,Goztepe Educational and Research Hospital | Karatoprak E.Y.,Goztepe Educational and Research Hospital | Tasel B.,Goztepe Educational and Research Hospital
Journal of Pediatric Endocrinology and Metabolism | Year: 2014

Background: Diabetic ketoacidosis (DKA) is a common initial presentation of pediatric type 1 diabetes mellitus. Intracerebral complications of DKA pose significant mortality and morbidity rates. Objective: Our aim is to emphasize the importance of early identification, investigation, and treatment for patients who present with DKA and stroke. Case report: Here, we report a case of a 4-year-old female patient who presented with ischemic-hemorrhagic stroke as a complication of DKA. Conclusion: Cerebrovascular complications of DKA in children are a rare condition; however, higher risks take place in their youngest age. Clinicians should be aware of these complications so as to develop appropriate approach for its management. © 2014 by De Gruyter.


Cakir F.B.,Bezmialem Foundation University | Baysal B.,Goztepe Educational and Research Hospital | Dogan O.,Istanbul University
Wspolczesna Onkologia | Year: 2013

Granulocyte-colony stimulating factor (G-CSF) increases the proliferation and maturation of committed polymorphonuclear leukocyte precursors, as well as the function of mature polymorphonuclear leukocytes. It has previously been shown in pediatric patients that G-CSF induces reconversion of fatty bone marrow to hematopoietic bone marrow in the pelvis and lower extremities that is detectable by magnetic resonance imaging (MRI). Here, we report a 13-year-old Burkitt leukemia patient with bone pain while he was in remission. He was on G-CSF after cessation of high-dose and low-dose cytarabine chemotherapy. He was suspected to have a leukemia relapse. Pelvic MRI was consistent with leukemic infiltration. However, the pathology of bonemarrow biopsy resulted in normal findings. Thus it was suggested that concurrent administration of G-CSF could be the causative agent for both bone pain and false-positive MRI findings. The control MRI after interruption of G-CSF revealed normal findings. In conclusion, radiologists should be informed about the type of therapy, including G-CSF administration, in order to overcome misinterpretation of bone marrow MRI.


Guven A.,Goztepe Educational and Research Hospital | Cebeci A.N.,Goztepe Educational and Research Hospital
JCRPE Journal of Clinical Research in Pediatric Endocrinology | Year: 2011

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 4 11/12 and 10 11/12 years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.


Dursun F.,Goztepe Educational and Research Hospital | Guven A.,Goztepe Educational and Research Hospital | Ayhan Y.I.,Goztepe Educational and Research Hospital
Journal of Pediatric Endocrinology and Metabolism | Year: 2011

Kocher-Debré-Sémélaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report an 11-year-old female child with hypothyroidism and limb muscle pseudohypertrophy with pericardial effusion. The patient presented with hypertrichosis only. She had dull facies and marked hypertrophy of both calves and cervical muscles. Pericardial effusion was confirmed on investigations. Muscle pseudohypertrophy was a striking feature, and hypothyroidism was confirmed on thyroid studies. Pericardial effusion is known in hypothyroidism but has been very rarely reported with KDSS. © 2011 by Walter de Gruyter Berlin Boston.


PubMed | Goztepe Educational and Research Hospital
Type: Case Reports | Journal: Journal of clinical research in pediatric endocrinology | Year: 2011

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 4(11/12) and 10(11/12) years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes.


PubMed | Goztepe Educational and Research Hospital
Type: Case Reports | Journal: Journal of pediatric endocrinology & metabolism : JPEM | Year: 2012

Multiple pterygium syndrome (MPS or Escobar syndrome) is a rare, generally autosomal recessive disorder characterized by multiple congenital joint contractures and multiple skin webs. An 11.5-year-old girl with a working diagnosis of Turner syndrome (TS) was referred for her phenotypic features and growth retardation. Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, downturning corners of the mouth, long philtrum, high-arched palate, digital and intercrural webbings, and aplasia of the labia majora were indicative of MPS (Escobar syndrome). Her mental status was normal. Facial asymmetry was present due to cervical webs. Normal karyotype, gonadal functions, and cardiac and urinary system findings helped in excluding TS. Genetic diseases associated with skin webs were revised in differential diagnosis.


PubMed | Goztepe Educational and Research Hospital
Type: Journal Article | Journal: Journal of clinical research in pediatric endocrinology | Year: 2011

Sudden death has been reported in asymptomatic obese adults and the mechanism is unclear. In recent years, obesity has shown a dramatic increase in children and this enhances the risk factors for the development of cardiovascular disease. The aim of this study was to investigate whether there is repolarization abnormality and any potential risk factor such as increase in intima-media thickness (IMT) of carotid artery for corrected QT (QTc) prolongation among obese children.A total of 60 obese children, 30 of which had features of metabolic syndrome (MS), and 23 age-matched controls were included in the study. QTc interval was calculated at rest. The IMT of both common carotid arteries (CCA) was measured. The relationship between QTc, IMT of right and left CCA and insulin sensitivity indices were evaluated in the study group.The QTc interval of the children with simple exogenous obesity (SEO) were longer than in the controls (p=0.024). The IMT of both carotid arteries of the obese girls and boys with and without MS were higher than the controls (p=<0.001). The QTc was significantly affected by the parameters pertaining to the right carotid artery IMT, to chronologic age and HDL-C.Since obesity may cause subclinical atherosclerotic disease regardless of sex, obese children must be followed closely for early cardiovascular problems.

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