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137 results on '"Gülsev Kale"'

101. P.9.13 Congenital myopathies in a pediatric referral center

Author

Mert Karakaya, Haluk Topaloglu, Beril Talim, and Gülsev Kale

Subjects
Pathology, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, business.industry, Congenital fiber type disproportion, medicine.disease, Congenital myopathy, Nemaline myopathy, Neurology, Clinical diagnosis, Pediatrics, Perinatology and Child Health, medicine, Referral center, Neurology (clinical), medicine.symptom, Centronuclear myopathy, Myopathy, business, Genetics (clinical)
Abstract

Congenital myopathies are a group of inherited neuromuscular disorders presenting in childhood and mainly characterised by muscle biopsy features. Among them, nemaline myopathy, centronuclear/myotubular myopathy and core myopathy are the most common forms. Diagnosis is sometimes challenging since there is clinical and genetic overlap between different forms of congenital myopathies and some genetically confirmed patients may not show typical histopathological findings, at least in early stages. We aimed to document congenital myopathy cases diagnosed in our pediatric center in the last 10 years. We reviewed clinical and histopathological data of cases with a clinicopathological diagnosis of congenital myopathy. Of the 91 cases with a clinical diagnosis of congenital myopathy and compatible muscle biopsy features, mean age of diagnosis was 5 years, ranging from 6 days to 16 years. Classification according to histopathological features yielded 29 cases with nemaline myopathy, 12 myotubular/centronuclear myopathy, 9 core myopathy and 6 congenital fiber type disproportion. In 19 cases, muscle biopsy showed various combination of features compatible with congenital myopathy (increase in central or internal nuclei, uneven staining or core like areas in oxidative enzyme stains, type I fiber predominance) but not sufficient to classify into a typical subgroup. In 16 cases, histological findings were more subtle or showed non-specific myopathic findings. Our results show that nemaline myopathy is the most frequent congenital myopathy in our cohort (31%), while some cases could not be classified solely on histopathological grounds. Molecular analysis, especially in this group of un-classified patients, is important for definite diagnosis and better delineation of milder or earlier histopathological changes.

Published
2013
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102. Functional significance of dystrophin-positive fibers in Duchenne and Becker muscular dystrophy

Author

Taşdemir Ha, D P Dinçer, Kalbiye Yalaz, Yavuz Renda, Haluk Topaloglu, Kotiloğlu E, and Gülsev Kale

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, biology, business.industry, Duchenne muscular dystrophy, Muscle Fibers, Skeletal, General Medicine, medicine.disease, Immunohistochemistry, Muscular Dystrophies, Pathology and Forensic Medicine, Dystrophin, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Functional significance, Humans, Muscular dystrophy, Antibody, business
Abstract

In this study, the ratios of dystrophin-positive (+), partially deficient (+/-), and deficient (-) fibers were investigated immunohistochemically in 28 Duchenne muscular dystrophy (DMD) and 4 Becker muscular dystrophy (BMD) patients using Dys I (midrod), Dys II (COOH-terminal), and Dys III (NH2-terminal) antibodies. In the biopsies of DMD patients, Dys II was negative in all cases; the mean ratio of Dys I (+) fibers was 0.05%, Dys I (+/-) 1.02%, Dys III (+) 0.27%, and Dys III (+/-) 0.75%. There was no correlation between these (+) or (+/-) fibers and the severity of clinical or laboratory findings. In BMD patients, it was shown that amino and carboxyl terminals of dystrophin could be affected in addition to the midportion.

Published
1996

103. Nonlymphoid gastrointestinal malignancies in Turkish children

Author

Tezer Kutluk, Faik Sarialioĝlu, Münevver Büyükpamukçu, Gülsev Kale, Nebil Büyükpamukçu, Canan Akyüz, and Semha Berberoĝlu

Subjects
Male, Leiomyosarcoma, Cancer Research, Pathology, medicine.medical_specialty, Pancreatic disease, Adolescent, Turkey, Colorectal cancer, Carcinoid tumors, Rectum, Gastroenterology, Pancreatic tumor, Internal medicine, medicine, Humans, Mesothelioma, Child, Gastrointestinal Neoplasms, Retrospective Studies, Gastrointestinal tract, business.industry, medicine.disease, medicine.anatomical_structure, Oncology, Pediatrics, Perinatology and Child Health, Female, business
Abstract

Nonlymphoid gastrointestinal malignancies are not frequently encountered malignant tumors of childhood. From 1972 to 1994, at Hacettepe University Children's Hospital, there were 6,774 malignant tumors encountered in patients from birth to age 17. Thirty-five of them (0.5%) originated from the gastrointestinal tract. There were five carcinoid tumors, four pancreas tumors (two were solid-cystic tumors), four APUD-omas, three leiomyosarcomas, one mesothelioma, two carcinomas of the stomach and duodenum, and 16 colon and rectum carcinomas (12 were mucin-producing). These rare tumors are discussed according to the characteristics of the patients, therapy modalities applied, and outcome of the patients. (C) 1996 Wiley-Liss, Inc.

Published
1996

104. Solitary intestinal fibromatosis mimicking malabsorption syndromes

Author

Akgün Hiçsönmez, Esin Kotiloğlu, Aydin Türken, Mehmet Emin Şenocak, and Gülsev Kale

Subjects
medicine.medical_specialty, Pathology, Malabsorption, Diagnostico diferencial, Fibroma, Gastroenterology, Jejunum, Intestinal malabsorption, Diagnosis, Differential, Malabsorption Syndromes, Internal medicine, Medicine, Humans, Jejunal Neoplasms, business.industry, Fibromatosis, Infant, General Medicine, medicine.disease, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Surgery, Female, Malabsorption syndromes, Differential diagnosis, business, Rare disease
Abstract

A 17-month-old baby had symptoms of malabsorption and partial intestinal obstruction. These were found to be caused by obliteration of the jejunum by solitary intestinal fibromatosis. Solitary intestinal fibromatosis, which may imitate malabsorptive diseases of the intestine, is a rare cause of intestinal obstruction in the neonatal period and infancy. Diagnostic acids and differential diagnosis of this rare disease are discussed, and previously reported cases are reviewed.

Published
1995

105. Questions

Author

Rezan Topaloglu, Aysin Bakkaloglu, Mukaddes Kalyoncu, Seza Ozen, Gülsev Kale, and Diclehan Orhan

Subjects
medicine.medical_specialty, Pathology, Microscopic Polyarteritis, Nephrology, Polyarteritis nodosa, business.industry, Leukocytoclastic vasculitis, Pediatrics, Perinatology and Child Health, medicine, medicine.disease, business, Vasculitis, Surgery
Published
2003
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106. D.P.6 Whole exome sequencing applied to foetal akinesia

Author

Diclehan Orhan, Gülsev Kale, E. Sollis, Cathy Kiraly-Borri, Goknur Haliloglu, K. Riley, G. Ravenscroft, Elizabeth Thompson, Kyle S. Yau, Emily J. Todd, Victoria A. Fabian, Nigel G. Laing, Mark R. Davis, Padma Sivadorai, Nicholas Manton, Adrian Charles, Peter C. Blumbergs, Kathryn Friend, Nina Kresoje, and Richard J.N. Allcock

Subjects
Genetics, Pathology, medicine.medical_specialty, Splice site mutation, Biology, Compound heterozygosity, medicine.disease, Lethal Multiple Pterygium Syndrome, Frameshift mutation, Nemaline myopathy, Neurology, Pediatrics, Perinatology and Child Health, medicine, Missense mutation, Neurology (clinical), Nemaline bodies, Genetics (clinical), Exome sequencing
Abstract

Foetal akinesia/hypokinesia is an absence or decrease of movement in utero resulting in a spectrum of anomalies characterised by intrauterine growth retardation, contractures, craniofacial anomalies, limb anomalies, pulmonary hypoplasia and polyhydramnios. Despite a large number of disease genes (>30) being associated with this heterogenous group of disorders, the majority of cases are without a genetic diagnosis. The aim of this study was to investigate the use of whole exome sequencing (WES) to identify the causative gene/s in a preliminary set of four families with foetal akinesia. In three families presenting with foetal akinesia and nemaline bodies, all the known nemaline myopathy genes were excluded by WES. The fourth family presented with lethal multiple pterygium syndrome. WES of DNA from two affected sibs revealed compound heterozygous mutations in the glycogen branching enzyme-1 gene ( GBE1 ): a known splice site mutation (c.691+2T>C) and a novel missense mutation (c.956A>G; p.His319Arg) at a highly conserved residue. Each parent carried one of the mutations. GBE1 mutations are known to cause glycogen storage disease IV (GSD IV), a subset of which present with a severe neuromuscular foetal akinesia phenotype. In light of the genetic findings, the muscle pathology was reviewed and PAS positive, diastase resistant faintly refractile material was observed, consistent with GSD IV. Our data highlight that novel nemaline myopathy gene/s remain to be identified and that WES can be used successfully for the diagnosis of foetal akinesias. This study expands the genotype–phenotype correlation of GBE1 mutations: (1) since GSD IV should now be considered in cases presenting as lethal multiple pterygium syndrome and (2) since the vast majority of known foetal akinesia GSD IV cases are due to large indels or frameshift mutations and it is generally considered that the type of the mutations corresponds with clinical severity.

Published
2012
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107. P04.8 Congenital muscular dystrophy with mitochondrial abnormalities

Author

Haluk Topaloglu, Çiğdem Genç Sel, Kader Karli Oguz, Beril Talim, and Gülsev Kale

Subjects
Pathology, medicine.medical_specialty, business.industry, Mitochondrial abnormalities, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Medicine, Neurology (clinical), General Medicine, business, medicine.disease
Published
2011
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108. Intestinal perforation as an initial presentation of polyarteritis nodosa in an 8-year-old boy

Author

H. Zehra Gündoǧdu, Nebil Büyükpamukçu, Gülsev Kale, F. Cahit Tanyel, and Akgün Hiçsönmez

Subjects
Male, medicine.medical_specialty, Polyarteritis nodosa, business.industry, Perforation (oil well), General Medicine, medicine.disease, Surgery, Polyarteritis Nodosa, Intestinal Perforation, Pediatrics, Perinatology and Child Health, medicine, Humans, Presentation (obstetrics), business, Child
Abstract

The cases of an 8-year-old boy who had two separate gangrenous intestinal segements with perforations during the early course of polyarteritis nodosa is presented.

Published
1993

110. PP-17. The effects of antenatal anticoagulants (low molecular weight heparin and aspirin) on neonatal pulmonary vasculature in rabbits

Author

Gülsev Kale, Gülsevin Tekinalp, Murat Yurdakök, Sule Yigit, Fuat Emre Canpolat, and Diclehan Orhan

Subjects
medicine.medical_specialty, Aspirin, business.industry, medicine.drug_class, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Medicine, Low molecular weight heparin, Pulmonary vasculature, Pharmacology, business, Surgery, medicine.drug
Published
2010
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111. Idiopathic interstitial pneumonias: Diagnosis, treatment and follow-up

Author

Nural Kiper, D. Dogru Ersoz, Güzin Cinel, Mithat Haliloglu, Gülsev Kale, E. Yalcyn, and U. Ozcelik

Subjects
Pulmonary and Respiratory Medicine, Pathology, medicine.medical_specialty, business.industry, Connective tissue, medicine.disease, Epithelium, Muscular layer, Lesion, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Medicine, Esophageal Cyst, Cyst, Esophagus, medicine.symptom, business, Idiopathic interstitial pneumonia
Abstract

tissue in the neighborhood of esophagus was detected. It was seen that the bottom of the cyst has extended to on the arch aortic and the cyst was connected to the esophagus muscular layer with the tight connective tissue. Microscopic appearance of lesion, smooth muscle tissue with double row in the wall of cystic tissue whose inner surface is paved with silial cylindrical epithelium, mononuclear inflammatory cells in these regions, congested vasculars are seen and these are found compatible with the esophageal cyst. The patient’s breathing and wheeze do not occur again after the operation. Although the diagnosises of asthma which do not heal and not respond the bronchodilator treatment in infant do not occur frequently, mediastinal masses should be kept in mind.

Published
2010
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113. P320 A treatable metabolic myopathy: riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency and coenzyme Q10 myopathy

Author

Goknur Haliloglu, Haluk Topaloglu, Meral Topçu, Gülsev Kale, and Beril Talim

Subjects
Coenzyme Q10, Chemistry, Riboflavin, General Medicine, Metabolic myopathy, medicine.disease, Acyl-CoA, chemistry.chemical_compound, Biochemistry, Pediatrics, Perinatology and Child Health, medicine, Dehydrogenation, Neurology (clinical), medicine.symptom, Myopathy
Published
2009
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114. P100 Congenital muscular dystrophy with rigid spine and early respiratory involvement: a distinct phenotype due to selenoprotein N1 (SEPN1)

Author

Haluk Topaloglu, Goknur Haliloglu, Beril Talim, and Gülsev Kale

Subjects
chemistry.chemical_classification, business.industry, General Medicine, Anatomy, medicine.disease, Rigid spine, Phenotype, chemistry, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Medicine, Neurology (clinical), Selenoprotein, Respiratory system, business
Published
2009
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115. Occidental type cerebromuscular dystrophy: a report of eleven cases

Author

Yavuz Renda, G Nurlu, Kalbiye Yalaz, Haluk Topaloglu, Kıvılcım Gücüyener, S. Göğüs, Melda Çağlar, and Gülsev Kale

Subjects
Male, Pathology, medicine.medical_specialty, Turkey, Biopsy, Chromosome Disorders, Genes, Recessive, Muscular Dystrophies, medicine, Humans, Muscular dystrophy, Chromosome Aberrations, medicine.diagnostic_test, business.industry, Muscles, Normal intelligence, Dystrophy, Dystrophic changes, Brain, Infant, Diffuse Cerebral Sclerosis of Schilder, Anatomy, Amyotrophy, medicine.disease, Psychiatry and Mental health, Facial muscles, medicine.anatomical_structure, Congenital muscular dystrophy, Surgery, Female, Neurology (clinical), business, Tomography, X-Ray Computed, Research Article
Abstract

Occidental type cerebromuscular dystrophy (OCMD) forms a substantial distinct group within congenital muscular dystrophy (CMD). These patients invariably present with amyotrophy, multiple joint contractures, facial muscle involvement, normal or nearly normal intelligence, leukodystrophic appearance on CT scan, and dystrophic changes in muscle.

Published
1991

116. Endomyocardial Biopsy In Children. Usefulness In Various Myocardial Disorders

Author

Gülsev Kale, Melda Çağlar, Funda Öztunç, Sema Özer, Türkan Küçükali, Süheyla Özkutlu, Alpay Celiker, Şencan Özme, and Çocuk Sağlığı ve Hastalıkları

Subjects
Cardiomyopathy, Dilated, Male, medicine.medical_specialty, Myocarditis, Adolescent, Biopsy, Cardiomyopathy, Mitochondria, Heart, medicine, Humans, Prospective Studies, Prospective cohort study, Child, medicine.diagnostic_test, business.industry, Myocardium, Restrictive cardiomyopathy, Myocardial Disorder, Cardiomyopathy, Hypertrophic, medicine.disease, Surgery, El Niño, Child, Preschool, Etiology, Female, Radiology, Cardiology and Cardiovascular Medicine, business, Cardiomyopathies, Endocardium
Abstract

Endomyocardial biopsy studies in adults have demonstrated the usefulness of this method. It is possible that studies will be more productive in determining the etiology and clinical status in patients with clinically diagnosed myocardial diseases. A prospective study conducted over 16 months included 17 children, aged 14 months to 18 years, with the diagnosis of dilated, restrictive cardiomyopathy and myocarditis. In 16 patients right, and in 1 patient left heart endomyocardial biopsies were performed. The specimens were evaluated by light and electron microscopy. There were no serious complications after the procedure. In 1 of 17 children histology showed no myocardial tissue. Electron microscopy evaluations were currently available in 9 patients. Endomyocardial biopsy findings were found to be diagnostic in 41.2%, helpful in 29.4% and of no help in 29.4% of patients. In conclusion, endomyocardial biopsy technique is highly sensitive in children with myocardial disorders. In future it will be the major diagnostic tool for invasive but safe detection of myocardial disease.

Published
1991

117. Assessment of children presenting with rheumatic complaints to a tertiary center in Turkey: differences in an Eastern Mediterranean population

Author

Gülsev Kale, Aysin Bakkaloglu, Orhan Derman, Ali Duzova, Ö Bircan Cavkaytar, N Aktay Ayaz, Ozlem Teksam, Seza Ozen, and Çocuk Sağlığı ve Hastalıkları

Subjects
Pediatrics, medicine.medical_specialty, lcsh:Diseases of the musculoskeletal system, Population, Familial Mediterranean fever, Rheumatology, Fibromyalgia, Synovitis, Internal medicine, medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, education, education.field_of_study, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, Overlap syndrome, Dermatomyositis, medicine.disease, Pediatrics, Perinatology and Child Health, Poster Presentation, lcsh:RC925-935, Vasculitis, business
Abstract

Results From 01st December 2007 to 29th February 2008, a total of 241 children (M/F: 124/117; mean age 8.0 ± 4.0 years) were enrolled. Knee, ankle, hip and wrist were the most frequently involved joints. 61.8% had rheumatic diseases, and 38.2% had non-rheumatic diseases. The common causes constituted of familial Mediterranean fever (12.0%), other periodic fever syndromes (2.1%), HSP (8.7%) and other vasculitides (3.7%), JIA (10.0%), toxic synovitis (6.6%), rheumatic complaints during the course of an infectious disease (7.9%), growth pain (12.9%), orthopedic problems (18.7%); acute rheumatic fever (1.7%), malignancy (1.7%), SLE (1.2%), dermatomyositis (0.4%), overlap syndrome (0.4%) and fibromyalgia (0.8%) were rare. Conclusion This is the first study assessing the profile of rheumatic complaints in this part of the world. Our results have showed that auto-inflammatory diseases are strikingly high. Vasculitides and HSP are higher, whereas fibromyalgia is very rare compared to Western Europe. The frequency of ARF has decreased. from 15th Paediatric Rheumatology European Society (PreS) Congress London, UK. 14–17 September 2008

Published
2008

118. Gastric teratoma in children including the third reported female case

Author

Akgün Hiçsönmez, Nebil Büyükpamukçu, Gülsev Kale, M. Emin Şenocak, and Melda Çǧlar

Subjects
Male, endocrine system, Pathology, medicine.medical_specialty, endocrine system diseases, business.industry, Stomach, digestive, oral, and skin physiology, Teratoma, Infant, General Medicine, medicine.disease, female genital diseases and pregnancy complications, Benign tumor, medicine.anatomical_structure, Stomach Neoplasms, Pediatrics, Perinatology and Child Health, medicine, Humans, Surgery, Female, Gastric Teratoma, business, neoplasms
Abstract

Gastric teratoma is a very rare benign tumor. Fifty-three cases, only two of which were females, have previously been reported. This report concerns two cases of teratoma arising from stomach. One of them is the third female case described in the literature.

Published
1990

119. C.P.2.12 Congenital muscular dystrophy with mental retardation, dilated cardiomyopathy and abnormally located mitochondria

Author

Haluk Topaloglu, Meral Topçu, Dursun Alehan, B. Koksal, Zuhal Akçören, Beril Talim, and Gülsev Kale

Subjects
Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Medicine, Dilated cardiomyopathy, Neurology (clinical), Mitochondrion, business, medicine.disease, Genetics (clinical)
Published
2007
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120. G.P.3 01 Isolated myopathy with muscle coenzyme Q10 deficiency

Author

Gülsev Kale, Beril Talim, Goknur Haliloglu, Haluk Topaloglu, Diclehan Orhan, and R. Horwath

Subjects
medicine.medical_specialty, business.industry, medicine.disease, Endocrinology, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), medicine.symptom, Coenzyme Q10 deficiency, business, Myopathy, Genetics (clinical)
Published
2006
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121. Obstructive jaundice resulting from adenocarcinoma of the ampulla of vater in an 11-year-old boy

Author

Zuhal Akçören, Okan Akhan, Fatih Andiran, F. Cahit Tanyel, Gülsev Kale, and Akgün Hiçsönmez

Subjects
Male, Ampulla of Vater, medicine.medical_specialty, animal structures, Common Bile Duct Neoplasms, Adenocarcinoma, digestive system, Duodenectomy, medicine, Humans, Child, Cholestasis, business.industry, General surgery, General Medicine, Jaundice, medicine.disease, digestive system diseases, Surgery, medicine.anatomical_structure, Whipple operation, Pediatrics, Perinatology and Child Health, Obstructive jaundice, medicine.symptom, Complication, business, Biliary tract disease
Abstract

Adenocarcinoma of ampulla of Vater causing obstructive jaundice in an 11-year-old boy is reported. He first underwent pylorus-preserving duodenectomy, which later necessitated classical Whipple operation because of the microscopical evidence of the disease beyond surgical margins. This child is the youngest case of adenocarcinoma of ampulla of Vater in the English-language literature.

Published
1997
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123. High-dose methylprednisolone and VP-16 in treatment of griscelli syndrome with central nervous system involvement

Author

Meral Gumay, Türkan Küçükali, Fügen Ersoy, Tülin R. Sayli, Melda Çağlar, Avtemz Gurgey, and Gülsev Kale

Subjects
Pediatrics, medicine.medical_specialty, medicine.anatomical_structure, business.industry, Central nervous system, Immunology, medicine, High dose methylprednisolone, Hematology, medicine.disease, business, Griscelli syndrome
Published
1994
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124. Nucleolar organizer regions in small round cell tumors of childhood

Author

E Kotiloğlu, Melda Çağlar, Gülsev Kale, and Göğüş S

Subjects
Sarcoma, Ewing, Biology, medicine.disease, Sarcoma ewing, Pathology and Forensic Medicine, Neuroblastoma, Child, Preschool, Rhabdomyosarcoma, Nucleolus Organizer Region, Cancer research, medicine, Round cell, Humans, Nucleolus organizer region
Published
1993
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125. LARGE expression in different types of muscular dystrophies other than dystroglycanopathy

Author

Burcu Balci-Hayta, Beril Talim, Gulsev Kale, and Pervin Dincer

Subjects
LARGE, Alpha-dystroglycan, Hypoglycosylation, Muscular dystrophy, Skeletal muscle, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses. An important enzyme, known as Like-acetylglucosaminyltransferase (LARGE), has been shown to transfer repeating units of -glucuronic acid-β1,3-xylose-α1,3- (matriglycan) to αDG that is required for functional receptor as an extracellular matrix protein scaffold. The reduction in the amount of LARGE-dependent matriglycan result in heterogeneous forms of dystroglycanopathy that is associated with hypoglycosylation of αDG and a consequent lack of ligand-binding activity. Our aim was to investigate whether LARGE expression showed correlation with glycosylation of αDG and histopathological parameters in different types of muscular dystrophies, except for dystroglycanopathies. Methods The expression level of LARGE and glycosylation status of αDG were examined in skeletal muscle biopsies from 26 patients with various forms of muscular dystrophy [Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), sarcoglycanopathy, dysferlinopathy, calpainopathy, and merosin and collagen VI deficient congenital muscular dystrophies (CMDs)] and correlation of results with different histopathological features was investigated. Results Despite the fact that these diseases are not caused by defects of glycosyltransferases, decreased expression of LARGE was detected in many patient samples, partly correlating with the type of muscular dystrophy. Although immunolabelling of fully glycosylated αDG with VIA4–1 was reduced in dystrophinopathy patients, no significant relationship between reduction of LARGE expression and αDG hypoglycosylation was detected. Also, Merosin deficient CMD patients showed normal immunostaining with αDG despite severe reduction of LARGE expression. Conclusions Our data shows that it is not always possible to correlate LARGE expression and αDG glycosylation in different types of muscular dystrophies and suggests that there might be differences in αDG processing by LARGE which could be regulated under different pathological conditions.

Published
2018
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126. Scleroderma-like skin lesions in two patients with phenylketonuria

Author

Turgay Coşkun, Imran Özalp, Gülsev Kale, and S Göğüş

Subjects
medicine.medical_specialty, Pathology, Collagen disease, integumentary system, business.industry, Phenylketonurias, Infant, medicine.disease, Dermatology, Scleroderma, Scleroderma, Localized, Pediatrics, Perinatology and Child Health, Humans, Medicine, Female, skin and connective tissue diseases, business, Skin lesion, Skin
Abstract

Two patients with phenylketonuria and scleroderma-like skin lesions are presented. Since scleroderma is a rare collagen disease of childhood, the occurrence of these two disorders in the same patient does not seem to be coincidental but raises the possibility of a causal relationship. Improvement in the skin lesions of the patients after the commencement of a low-phenylalanine diet supports this hypothesis.

Published
1990
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127. Munchausen syndrome by proxy presented as recurrent respiratory arrest and thigh abscess: a case study and overview.

Author

Dil±ad Foto-Özdemir, Sıdıka Songül Yalçın, Ay±e Zeki, Kadriye Yurdakök, Şeniz Özusta, Aslıhan Köse, Ferda Karadağ, İrem Yıldız, Aysun Balseven-Odaba±ı, and Gülsev Kale

Abstract

While many physicians are familiar with the sexual or physical abuse of children, there is little awareness about Munchausen syndrome by proxy (MSBP). As case reports of MSBP increase, awareness among physicians is thought to increase as well. We thus present herein a 16-month-old girl who admitted to Hacettepe University İhsan Doğramacı Children's Hospital with the complaint of seizure, recurrent apnea and thigh abscess, who was later diagnosed as MSBP. The case was being followed by the Child Protection Team of the hospital (Haceteppe University Child Protection Unit [HU-CPU]). HU-CPU contributed to the early detection of this case and protected the child from a possible fatal outcome. The mother was confronted for MSBP and refused to take responsibility for her child's symptoms. As seen in this case, when MSBP is suspected, psychiatric evaluation of the mother, evaluation of the mother-child interaction and collection of a detailed family and social history can have a positive impact on the prognosis in these cases. This case report underlines the importance of multidisciplinary team work to share the responsibility and reduce the burden during the treatment process of these difficult and complicated cases. [ABSTRACT FROM AUTHOR]

Published
2013

128. Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI

Author

Pascale Guicheney, Haluk Topaloglu, Anne Helbling-Leclerc, M.Z. Akçören, Beril Talim, Melda Çağlar, Nicolas Vignier, Gülsev Kale, and Mürüvet Yetük

Subjects
Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, Genetics (clinical), Merosin deficient congenital muscular dystrophy
Published
1997
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129. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Author

F. De Benedetti, J. Anton, M. Gattorno, H. Lachmann, I. Kone-Paut, S. Ozen, J. Frenkel, A. Simon, A. Zeft, E. Ben-Chetrit, H. M. Hoffman, Y. Joubert, K. Lheritier, A. Speziale, J. Guido, Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Maria Alessio, Giovanni Conti, Federico Marchetti, Alberto Tommasini, Silvana Martino, Romina Gallizzi, Annalisa Salis, Francesca Schena, Francesco Caroli, Alberto Martini, Gianluca Damonte, Isabella Ceccherini, Marco Gattorno, Marie-Louise Frémond, Carolina Uggenti, Lien Van Eyck, Isabelle Melki, Darragh Duffy, Vincent Bondet, Yoann Rose, Bénédicte Neven, Yanick Crow, Mathieu P. Rodero, Yvonne Kusche, Johannes Roth, Katarzyna Barczyk-Kahlert, Giovanna Ferrara, Annalisa Chiocchetti, Silvio Polizzi, Josef Vuch, Diego Vozzi, Anna Mondino, Erica Valencic, Serena Pastore, Andrea Taddio, Flavio Faletra, Umberto Dianzani, Ugo Ramenghi, Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Natalie Deuitch, Deborah Stone, Wanxia Tsai, Amanda Ombrello, Tina Romeo, Elaine F. Remmers, JaeJin Chae, Massimo Gadina, Steven Welch, Seza Ozen, Rezan Topaloglu, Mario Abinun, Daniel L. Kastner, Ivona Aksentijevich, Donatella Vairo, Rosalba Monica Ferraro, Giulia Zani, Jessica Galli, Micaela De Simone, Marco Cattalini, Elisa Fazzi, Silvia Giliani, Ebun Omoyinmi, Ariane Standing, Dorota Rowczenio, Annette Keylock, Sonia Melo Gomes, Fiona Price-Kuehne, Sira Nanthapisal, Claire Murphy, Thomas Cullup, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen Lachmann, Philip Hawkins, Nigel Klein, Paul Brogan, Anita Dhanrajani, Mercedes Chan, Stephanie Pau, Janet Ellsworth, Jaime Guzman, Florence A. Aeschlimann, Marinka Twilt, Simon W. Eng, Shehla Sheikh, Ronald M. Laxer, Diane Hebert, Damien Noone, Christian Pagnoux, Susanne M. Benseler, Rae S. Yeung, Christoph Kessel, Katrin Lippitz, Toni Weinhage, Claas Hinze, Helmut Wittkowski, Dirk Holzinger, Niklas Grün, Dirk Föll, Pieter Van Dijkhuizen, Federica Del Chierico, Clara Malattia, Alessandra Russo, Denise Pires Marafon, Nienke M. ter Haar, Silvia Magni-Manzoni, Sebastiaan J. Vastert, Bruno Dallapiccola, Berent Prakken, Fabrizio De Benedetti, Lorenza Putignani, Berna Eren Fidanci, Kenan Barut, Serap Arıcı, Dogan Simsek, Mustafa Cakan, Ezgi D. Batu, Sezgin Şahin, Ayşenur Kısaarslan, Ebru Yilmaz, Özge Basaran, Ferhat Demir, Kubra Ozturk, Zübeyde Gunduz, Betül Sozeri, Balahan Makay, Nuray Ayaz, Onder Yavascan, Ozlem Aydog, Yelda Bilginer, Zelal Ekinci, Dilek Yıldız, Faysal Gök, Muferret Erguven, Erbil Unsal, Ozgur Kasapcopur, For the FMF Arthritis Vasculitis and Orphan Disease Research in Paediatric Rheumatology (FAVOR), Hafize E. Sönmez, Betül Sözeri, Yonatan Butbul, Seza Özen, Claudia Bracaglia, Giusi Prencipe, Manuela Pardeo, Geneviève Lapeyre, Emiliano Marasco, Walter Ferlin, Robert Nelson, Cristina de Min, N. Ruperto, H. I. Brunner, P. Quartier, T. Constantin, E. Alexeeva, K. Marzan, N. Wulffraat, R. Schneider, S. Padeh, V. Chasnyk, C. Wouters, J. B. Kuemmerle-Deschner, T. Kallinich, B. Lauwerys, E. Haddad, E. Nasonov, M. Trachana, O. Vougiouka, K. Leon, E. Vritzali, A. Martini, D. Lovell, PRINTO/PRCSG, Stefano Volpi, Claudia Pastorino, Francesca Kalli, Alessia Omenetti, Sabrina Chiesa, Arinna Bertoni, Paolo Picco, Gilberto Filaci, Elisabetta Traggiai, Marie-Louise Fremond, Naoki Kitabayashi, Olivero Sacco, Isabelle Meyts, Marie-Anne Morren, Carine Wouters, Eric Legius, Isabelle Callebaut, Christine Bodemer, Frederic Rieux-Laucat, Mathieu Rodero, Nadia Jeremiah, Alexandre Belot, Eric Jeziorski, Didier Bessis, Guilhem Cros, Gillian I. Rice, Bruno Charbit, Anne Hulin, Nihel Khoudour, Consuelo Modesto Caballero, Monique Fabre, Laureline Berteloot, Muriel Le Bourgeois, Philippe Reix, Thierry Walzer, Despina Moshous, Stéphane Blanche, Alain Fischer, Brigitte Bader-Meunier, Frédéric Rieux-Laucat, K. Annink, N. ter Haar, S. Al-Mayouf, G. Amaryan, K. Barron, S. Benseler, P. Brogan, L. Cantarini, M. Cattalini, A. Cochino, F. Dedeoglu, A. De Jesus, O. Dellacasa, E. Demirkaya, P. Dolezalova, K. Durrant, G. Fabio, R. Gallizzi, R. Goldbach-Mansky, E. Hachulla, V. Hentgen, T. Herlin, M. Hofer, H. Hoffman, A. Insalaco, A. Jansson, I. Koné-Paut, A. Kozlova, J. Kuemmerle-Deschner, R. Laxer, S. Nielsen, I. Nikishina, A. Ombrello, E. Papadopoulou-Alataki, A. Ravelli, D. Rigante, R. Russo, Y. Uziel, Nienke ter Haar, Jerold Jeyaratnam, Anna Simon, Matteo Doglio, Jordi Anton, Consuelo Modesto, Pierre Quartier, Esther Hoppenreijs, Luca Cantarini, Loredana Lepore, Inmaculada Calvo Penades, Christina Boros, Rita Consolini, Donato Rigante, Ricardo Russo, Jana Pachlopnik Schmid, Thirusha Lane, Nicolino Ruperto, Joost Frenkel, Chiara Passarelli, Elisa Pisaneschi, Virginia Messia, Antonio Novelli, Fabrizio Debenedetti, P. A. Brogan, X. Wei, Martina Finetti, Francesca Orlando, Elisabetta Cortis, Angela Miniaci, Nicola Ruperto, Charlotte Eijkelboom, Pavla Dolezalova, Isabelle Koné-Paut, Marija Jelusic-Drazic, Liliana Bezrodnik, Mari Carmen Pinedo, Valda Stanevicha, Marielle van Gijn, Silvia Federici, Hermann Girschick, Gerd Ganser, Susan Nielsen, Troels Herlin, Sulaiman Mohammed Al-Mayouf, Michael Hofer, Jasmin Kuemmerle-Deschner, Susanne Schalm, Annette Jansson, on behalf of PRINTO and Eurofever registry, Marta Marchi, Chiara Marini, Angelo Ravelli, Alberto Garaventa, Sonia Carta, Enrica Balza, Patrizia Castellani, Caterina Pellecchia, Silvia Borghini, Maria Libera Trotta, Anna Rubartelli, Andrew Henrey, Thomas Loughin, Roberta Berard, Natalie Shiff, Roman Jurencak, Susanne Benseler, Lori Tucker, on behalf of ReACCh-Out Investigators, Charalampia Papadopoulou, Ying Hong, Petra Krol, Yiannis Ioannou, Clarissa Pilkington, Hema Chaplin, Stephania Simou, Marietta Charakida, Lucy Wedderburn, Lynn R. Spiegel, Sara Ahola Kohut, Jennifer Stinson, Paula Forgeron, Miriam Kaufman, Nadia Luca, Khush Amaria, Mary Bell, J Swart, F. Boris, E. Castagnola, A. Groll, G. Giancane, G. Horneff, H. I. Huppertz, T. Wolfs, E. Alekseeva, V. Panaviene, F. Uettwiller, V. Stanevicha, L. M. Ailioaie, E. Tsitami, S. Kamphuis, G. Susic, F. Sztajnbok, B. Flato, A. Pistorio, Stephanie J. W. Shoop, Suzanne M. M. Verstappen, Janet E. McDonagh, Wendy Thomson, Kimme L. Hyrich, CAPS, Maarit Tarkiainen, Pirjo Tynjala, Pekka Lahdenne, Janne Martikainen, Acute-JIA Study Group, Meredyth Wilkinson, Christopher Piper, Georg Otto, Claire T. Deakin, Stefanie Dowle, Stefania Simou, Daniel Kelberman, Claudia Mauri, Elizabeth Jury, David Isenberg, Lucy R. Wedderburn, Kiran Nistala, I. Foeldvari, D. J. Lovell, G. Simonini, M. Bereswill, J. Kalabic, Kiem Oen, Brian M. Feldman, Brenden Dufault, Jennifer Lee, Karen Watanabe Duffy, Ciaran Duffy, ReACCh-Out Investigators, N. Tzaribachev, G. Vega-Cornejo, I. Louw, A. Berman, I. Calvo, R. Cuttica, F. Avila-Zapata, R. Cimaz, E. Solau-Gervais, R. Joos, G. Espada, X. Li, M. Nys, R. Wong, S. Banerjee, For Pediatric Rheumatology International Trials Organization (PRINTO)/Pediatric Rheumatology Collaborative Study Group (PRCSG), Rebecca Nicolai, Margherita Verardo, Adele D’Amico, Luisa Bracci-Laudiero, Gian Marco Moneta, Gillian Rice, Anne-Laure Mathieu, Sulliman O. Omarjee, Tracy A. Briggs, James O’Sullivan, Simon Williams, Rolando Cimaz, Eve Smith, Michael W. Beresford, Yanick J. Crow, GENIAL Investigators, UK JSLE Study Group, Madeleine Rooney, Nick Bishop, joyce davidson, Clarissa pilkington, Michael Beresford, Jacqui Clinch, Rangaraj Satyapal, Helen Foster, Janet Gardner Medwin, Janet McDonagh, Sue Wyatt, On Behalf of the British Society for Paediatric and Adolescent Rheumatology, Valentina Litta Modignani, Francesco Baldo, Stefano Lanni, Alessandro Consolaro, Giovanni Filocamo, Helen J. Lachmann, on behalf of Eurofever Registry, Gianmarco Moneta, Camilla Celani, Bilade Cherqaoui, Linda Rossi-Semerano, Perrine Dusser, Véronique Hentgen, Claire Grimwood, Linda Rossi, Isabelle Kone Paut, Veronique Hentgen, Denise Lasigliè, Denise Ferrera, Giulia Amico, Marco Di Duca, Laura Obici, Roberto Ravazzolo, Ryuta Nishikomori, Juan Arostegui, Andrea Petretto, Chiara Lavarello, Elvira Inglese, Federica Vanoni, Michaël Hofer, on behalf of EUROFEVER PROJECT, P. N. Hawkins, T. van der Poll, U. A. Walker, H. H. Tilson, Pascal N. Tyrrell, Raphaela Goldbach-Mansky, Norbert Blank, Hal M. Hoffman, Elisabeth Weissbarth-Riedel, Boris Huegle, Tilmann Kallinich, Ahmet Gul, Marlen Oswald, Fatma Dedeoglu, Aki Hanaya, Takako Miyamae, Manabu Kawamoto, Yumi Tani, Takuma Hara, Yasushi Kawaguchi, Satoru Nagata, Hisashi Yamanaka, Almira Ćosićkić, Fahrija Skokić, Belkisa Čolić, Sanimir Suljendić, Anna Kozlova, Irina Mersiyanova, Mariya Panina, Lily Hachtryan, Vasiliy Burlakov, Elena Raikina, Alexey Maschan, Anna Shcherbina, Banu Acar, Meryem Albayrak, Betul Sozeri, Sezgin Sahin, Amra Adrovic, Nese Inan, Serhan Sevgi, Caroline M. Andreasen, Anne Grethe Jurik, Mia B. Glerup, Christian Høst, Birgitte T. Mahler, Ellen-Margrethe Hauge, Cecilia Lazea, Laura Damian, Calin Lazar, Rodica Manasia, Chloe M. Stephenson, Vimal Prajapati, Paivi M. Miettunen, Dilek Yılmaz, Yavuz Tokgöz, Yasin Bulut, Harun Çakmak, Ferah Sönmez, Elif Comak, Gülşah Kaya Aksoy, Mustafa Koyun, Sema Akman, Yunus Arıkan, Ender Terzioğlu, Osman Nidai Özdeş, İbrahim Keser, Hüseyin Koçak, Ayşen Bingöl, Aygen Yılmaz, Reha Artan, X. Xu, Fatemeh F. Mehregan, Vahid Ziaee, Mohammad H. Moradinejad, Francesco La Torre, Clotilde Alizzi, Pio D’Adamo, G. Junge, J. Gregson, Hasmik Sargsyan, Hulya Zengin, Berna E. Fidanci, Cagla Kaymakamgil, Dilek Konukbay, Dilek Yildiz, Faysal Gok, Iris Stoler, Judith Freytag, Banu Orak, Christine Seib, Lars Esmann, Eva Seipelt, Faekah Gohar, Dirk Foell, Ismail Dursun, Sebahat Tulpar, Sibel Yel, Demet Kartal, Murat Borlu, Funda Bastug, Hakan Poyrazoglu, Zubeyde Gunduz, Kader Kose, Mehmet E. Yuksel, Abdullah Calıskan, Ahmet B. Cekgeloglu, Ruhan Dusunsel, Katerina Bouchalova, Jana Franova, Marcel Schuller, Marie Macku, Katerina Theodoropoulou, Raffaella Carlomagno, Annette von Scheven-Gête, Claudia Poloni, Laura O. Damian, Dan Cosma, Amanda Radulescu, Dan Vasilescu, Liliana Rogojan, Simona Rednic, Mihaela Lupse, Lien De Somer, Pierre Moens, Rocio Galindo Zavala, Laura Martín Pedraz, Esmeralda Núñez Cuadros, Gisela Díaz-Cordovés Rego, Antonio L. Urda Cardona, Ilaria Dal Forno, Sara Pieropan, Ombretta Viapiana, Davide Gatti, Gloria Dallagiacoma, Paola Caramaschi, Domenico Biasi, Daniel Windschall, Ralf Trauzeddel, Hartwig Lehmann, Rainer Berendes, Maria Haller, Manuela Krumrey-Langkammerer, Antje Nimtz-Talaska, Philipp Schoof, Ralf Felix Trauzeddel, Christine Nirschl, Estefania Quesada-Masachs, Carla Aguilar Blancafort, Sara Marsal Barril, Francisca Aguiar, Rita Fonseca, Duarte Alves, Ana Vieira, Alberto Vieira, Jorge A. Dias, Iva Brito, Gordana Susic, Vera Milic, Goran Radunovic, Ivan Boricic, Pauline Marteau, Catherine Adamsbaum, Michel De Bandt, Irène Lemelle, Chantal Deslandre, Tu Anh Tran, Anne Lohse, Elisabeth Solau-Gervais, Pascal Pillet, Julien Wipff, Cécile Gaujoux-Viala, Sylvain Breton, Valérie Devauchelle-Pensec, Sandra Gran, Olesja Fehler, Stefanie Zenker, Michael Schäfers, Thomas Vogl, Severine Guillaume Czitrom, EH Pieter Van Dijkhuizen, Silvia Magni Manzoni, Francesca Magnaguagno, Laura Tanturri de Horatio, Nienke M. Ter Haar, Annemieke S. Littooij, Vitor A. Teixeira, Raquel Campanilho-Marques, Ana F. Mourão, Filipa O. Ramos, Manuela Costa, Wafa A. Madan, Orla G. Killeen, Adriana Rodriguez Vidal, Diana Sueiro Delgado, Maria Isabel Gonzalez Fernandez, Berta Lopez Montesinos, Aleksey Kozhevnikov, Nina Pozdeeva, Mikhail Konev, Evgeniy Melchenko, Vladimir Kenis, Gennadiy Novik, Aysenur Pac Kısaarslan, Butsabong Lerkvaleekul, Suphaneewan Jaovisidha, Witaya Sungkarat, Niyata Chitrapazt, Praman Fuangfa, Thumanoon Ruangchaijatuporn, Soamarat Vilaiyuk, Dan Ø. Pradsgaard, Arne Hørlyck, Anne H. Spannow, Carsten W. Heuck, Talia Diaz, Fernando Garcia, Lorenia De La Cruz, Nadina Rubio, Joanna Świdrowska-Jaros, Elzbieta Smolewska, Mirta Lamot, Lovro Lamot, Mandica Vidovic, Edi Paleka Bosak, Ivana Rados, Miroslav Harjacek, Nikolay Tzaribachev, Polymnia Louka, Romiesa Hagoug, Chiara Trentin, Olga Kubassova, Mark Hinton, Mikael Boesen, Olena A. Oshlianska, Illya A. Chaikovsky, G. Mjasnikov, A. Kazmirchyk, Umberto Garagiola, Irene Borzani, Paolo Cressoni, Fabrizia Corona, Eszter Dzsida, Giampietro Farronato, Antonella Petaccia, Alenka Gagro, Agneza Marija Pasini, Goran Roic, Ozren Vrdoljak, Lucija Lujic, Matija Zutelija-Fattorini, Monika M. Esser, Deepthi R. Abraham, Craig Kinnear, Glenda Durrheim, Mike Urban, Eileen Hoal, Victoria B. Nikolayenko, Kubilay Şahin, Yasar Karaaslan, Adele Civino, Giovanni Alighieri, Sergio Davì, Roberto Rondelli, Andrea Magnolato, Francesca Ricci, Alma Olivieri, Valeria Gerloni, Bianca Lattanzi, Francesca Soscia, Alessandro De Fanti, Stefania Citiso, Lorenzo Quartulli, Maria Cristina Maggio, Manuela Marsili, Maria Antonietta Pelagatti, Valentino Conter, Franca Fagioli, Andrea Pession, Marco Garrone, Mariangela Rinaldi, Jaime De Inocencio, Stella Garay, Daniel J. Lovell, Berit Flato, EPOCA Study Group, Angela Aquilani, Simona Cascioli, Ivan Caiello, Denise Pires-Marafón, Rita Carsetti, Emily Robinson, Salvatore Albani, Wilco de Jager, Sytze de Roock, Trang Duong, Justine Ellis, Kimme Hyrich, Laetitia Jervis, Daniel Lovell, Lucy Marshall, Elizabeth D. Mellins, Kirsten Minden, Jane Munro, Peter A. Nigrovic, Jason Palman, Sunil Sampath, Laura E. Schanberg, Susan D. Thompson, Richard Vesely, Chris Wallace, Chris Williams, Qiong Wu, Nico Wulffraat, Rae S. M. Yeung, M. B. Seyger, D. Arikan, J. K. Anderson, A. Lazar, D. A. Williams, C. Wang, R. Tarzynski-Potempa, J. S. Hymans, Gabriele Simonini, Erika Scoccimarro, Irene Pontikaki, Teresa Giani, Alessandro Ventura, Pier Luigi Meroni, Gaetana Minnone, Marzia Soligo, Luigi Manni, Luisa Bracci Laudiero, Noortje Groot, I. Grein, N. M. Wulffraat, R. Schepp, G. Berbers, C. C. Barbosa Sandoval de Souza, V. Paes Leme Ferriani, G. Pileggi, S. de Roock, Ingrid H. R. Grein, Silvia Scala, Elisa Patrone, Casper Schoemaker, on behalf of Dutch JIA patient organization, Wendy Costello, on behalf of ENCA, Suzanne Parsons, Jean-David Cohen, Damien Bentayou, Marc-Antoine Bernard Brunel, Sonia Trope, Jens Klotsche, Miriam Listing, Martina Niewerth, Gerd Horneff, Angelika Thon, Hans-Iko Huppertz, Kirsten Mönkemöller, Ivan Foeldvari, ICON study group, Achille Marino, Stefano Stagi, Niccolò Carli, Federico Bertini, Adriana S. Díaz-Maldonado, Sally Pino, Pilar Guarnizo, Alfonso Ragnar Torres-Jimenez, Berenice Sanchez-Jara, Eunice Solis-Vallejo, Adriana Ivonne Cespedes-Cruz, Maritza Zeferino-Cruz, Julia Veronica Ramirez-Miramontes, Ankur Kumar, Anju Gupta, Deepti Suri, Amit Rawat, Nandita Kakkar, Surjit Singh, Özge A. Gücenmez, Erbil Ünsal, Bo Magnusson, Karina Mördrup, Anna Vermé, Christina Peterson, Board of the Swedish Pediatric Rheumatology Registry, Caroline Freychet, Jean Louis Stephan, Cathryn E. Harkness, Leanne Foster, Emma Henry, Pauline Taggart, Coskun F. Ozkececi, Esra Kurt, Gokalp Basbozkurt, Daiva Gorczyca, Jacek Postępski, Aleksandra Czajkowska, Bogumiła Szponar, Mariola Paściak, Anna Gruenpeter, Iwona Lachór-Motyka, Daria Augustyniak, Edyta Olesińska, Emediong S. Asuka, Tatyana Golovko, Samuel U. Aliejim, Emilio Inarejos Clemente, Estibaliz Iglesias Jimenez, Joan Calzada Hernandez, Sergi Borlan Fernandez, Clara Gimenez Roca, David Moreno Romo, Natalia Rodriguez Nieva, Juan Manuel Mosquera Angarita, Jordi Anton Lopez, Esmeralda Nuñez-Cuadros, Gisela Diaz-Cordovés, Rocío Galindo-Zavala, Antonio Urda-Cardona, Antonio Fernández-Nebro, Daniel Álvarez de la Sierra, Marina Garcia Prat, Mónica Martínez Gallo, Ricardo Pujol Borrell, Ana M. Marín Sánchez, Etienne Merlin, Sylvie Fraitag, Jean-Louis Stephan, Federico Annoni, Giancarla Di Landro, Sofia Torreggiani, Marta Torcoletti, Georgina Tiller, Jo Buckle, Angela Cox, Peter Gowdie, Roger C. Allen, Jonathan D. Akikusa, Hayde G. Hernández-Huirache, Edel R. Rodea-Montero, William Fahy, Christelle Sordet, Karin B. Berggren, Johanna T. Kembe, Joyce Bos, Wineke Armbrust, Marco van Brussel, Jeanette Cappon, Pieter Dijkstra, Jan Geertzen, Elizabeth Legger, Marion van Rossum, Pieter Sauer, Otto Lelieveld, Levent Buluc, Gur Akansel, Bahar Muezzinoglu, Ljubov Rychkova, Tatyana Knyazeva, Anna Pogodina, Tatyana Belova, Tamara Mandzyak, Ekaterina Kulesh, Alessandro Cafarotti, Cosimo Giannini, Roberta Salvatore, Giuseppe Lapergola, Caterina Di Battista, Maria Loredana Marcovecchio, Raffaella Basilico, Piernicola Pelliccia, Francesco Chiarelli, Luciana Breda, Beverley Almeida, Sarah Tansley, Harsha Gunawardena, Neil McHugh, Juvenile Dermatomyositis Research Group (JDRG), Jessie Aouizerate, Marie De Antonio, Christine Barnerias, Guillaume Bassez, Isabelle Desguerre, Romain Gherardi, Jean-Luc Charuel, François-Jérôme Authier, Cyril Gitiaux, C. H. Spencer, Rabheh Abdul Aziz, Chack-Yung Yu, Brent Adler, Sharon Bout-Tabaku, Katherine Lintner, Melissa Moore-Clingenpeel, Liza McCann, Nicola Ambrose, Mario Cortina-Borja, Juvenile Dermatomyositis Cohort and Biomarker Study (JCDBS), Prasad T. Oommen, Fabian Speth, Johannes-Peter Haas, Working Group “Juvenile Dermatomyositis” of the German Society for Paediatric and Adolescent Rheumatology (GKJR), Claudio Lavarello, Gabriella Giancane, Angela Pistorio, Lisa Rider, Rohit Aggarwal, Sheila K. Oliveira, Ruben Cuttica, Michel Fischbach, Gary Sterba, Karine Brochard, Frank Dressler, Patrizia Barone, Ruben Burgos-Vargas, Elizabeth Candell Chalom, Marine Desjonqueres, Graciela Espada, Anders Fasth, Stella Maris Garay, Rose-Marie Herbigneaux, Claire Hoyoux, Chantal Job Deslandre, Frederick W. Miller, Jiri Vencovsky, Erdal Sag, Gulsev Kale, Haluk Topaloglu, Beril Talim, Francesco Zulian, Tadej Avcin, Roberto Marini, Anne Pagnier, Michel Rodiere, Christine Soler, Rebecca Ten Cate, Yosef Uziel, Jelena Vojinovic, Ana V. Villarreal, Nydia Acevedo, Yuridiana Ramirez, Enrique Faugier, Rocio Maldonado, Bita Arabshahi, John H. Lee, Ian Leibowitz, Lawrence O. Okong’o, Jo Wilmshurst, Monika Esser, Christiaan Scott, Ezgi Deniz Batu, Nagehan Emiroglu, Hafize Emine Sonmez, Gokcen Dilsa Tugcu, Zehra Serap Arici, Ebru Yalcin, Deniz Dogru, Ugur Ozcelik, Mithat Haliloglu, Nural Kiper, Masato Yashiro, Mutsuko Yamada, Toshihiko Yabuuchi, Tomonobu Kikkawa, Nobuyuki Nosaka, Yosuke Fujii, Yukie Saito, Hirokazu Tsukahara, Sulaiman M. Al-Mayouf, Nora AlMutiari, Mohammed Muzaffer, Rawiah shehata, Adel Al-Wahadneh, Reem Abdwani, Safia Al-Abrawi, Mohammed Abu-shukair, Zeyad El-Habahbeh, Abdullah Alsonbul, Aleksandra Szabat, Monika Chęć, Violetta Opoka-Winiarska, Biman Saikia, Ranjana W. Minz, Christine Arango, Clara Malagon, Maria D. P. Gomez, Angela C. Mosquera, Ricardo Yepez, Tatiana Gonzalez, Camilo Vargas, GRIP study group, Marta Balzarin, Biagio Castaldi, Elena Reffo, Francesca Sperotto, Giorgia Martini, Alessandra Meneghel, Ornella Milanesi, Ozgur Kasapçopur, Maria Teresa Terreri, Ekaterina Alexeeva, Maria Katsicas, Mikhail Kostik, Thomas Lehman, W.-Alberto Sifuentes-Giraldo, Vanessa Smith, Flavio Sztajnbok, Tadey Avcin, Maria Jose Santos, Dana Nemcova, Cristina Battagliotti, Liora Harel, Mahesh Janarthanan, Kathryn Torok, Nicola Helmus, Eileen Baildem, Michael Blakley, Kim Fligelstone, Antonia Kienast, Clare Pain, Amanda Saracino, Gabriele Simoni, Lisa Weibel, Maria K. Osminina, Nathalia A. Geppe, Olga V. Niconorova, Olesya V. Karashtina, Oksana V. Abbyasova, Olga V. Shpitonkova, Sinem Durmus, Hafize Uzun, Angela Mauro, Eleonora Fanti, Fabio Voller, Franca Rusconi, Fernando Garcia-Rodriguez, Ana V. Villarreal-Treviño, Angel J. Flores-Pineda, Paola B. Lara-Herrea, Diego R. Salinas-Encinas, Talia Diaz-Prieto, Maria R. Maldonado-Velazquez, Sarbelio Moreno-Espinosa, Enrique Faugier-Fuentes, Mirella Crapanzano, Ilaria Parissenti, Man S. Parihar, Pandiarajan Vignesh, ManojKumar Rohit, Kavitha Gopalan, Savita V. Attri, Alan Salama, David Jayne, Mark Little, Yulia Kostina, Galina Lyskina, Olga Shpitonkova, Alena Torbyak, Olga Shirinsky, Maria Francesca Gicchino, Maria Cristina Smaldone, Mario Diplomatico, Alma Nunzia Olivieri, C H. Spencer, Richard McClead, Hiren Patel, Chung-Yung Yu, Dita Cebecauerová, Tomáš Dallos, Edita Kabíčková, Martin Kynčl, Daniela Chroustová, Jozef Hoza, Dana Němcová, Vladimír Tesař, Pavla Doležalová, Tuncay Hazirolan, Fatih Ozaltin, Fabiola Almeida, Isabela H. Faria de Paula, Maíra M. Sampaio, Fernando N. Arita, Andressa G. Alves, Maria Carolina Santos, Eunice M. Okuda, Silvana B. Sacchetti, Fernanda Falcini, Marini Francesca, Gemma Lepri, Marco Matucci-Cerinic, Maria Luisa Brandi, Hakan Kisaoglu, Sema Misir, Selim Demir, Yuksel Aliyazicioglu, Mukaddes Kalyoncu, Carlos Eduardo Ramalho, Fabiola D. Almeida, Joan Calzada-Hernández, Rosa Bou, Estíbaliz Iglesias, Judith Sánchez-Manubens, Fredy Hermógenes Prada Martínez, Clara Giménez Roca, Sergi Borlan Fernández, Marek Bohm, Kamran Mahmood, Valentina Leone, Mark Wood, Ken-Ichi Yamaguchi, Satoshi Fujikawa, Working Group of Behçet’s Disease, Pediatric Rheumatology Association of Japan (PRAJ), Kyu Yeun Kim, Do Young Kim, Dong Soo Kim, Maka Ioseliani, Ivane Chkhaidze, Maia Lekishvili, Nana Tskhakaia, Shorena Tvalabeishvili, Aleksandre Kajrishvili, Maiko Takakura, Masaki Shimizu, Natsumi Inoue, Mao Mizuta, Akihiro Yachie, Giovanni Corsello, Maryam Piram, Carla Maldini, Sandra Biscardi, Nathalie Desuremain, Catherine Orzechowski, Emilie Georget, Delphine Regnard, Isabelle Kone-Paut, Alfred Mahr, Mihaela Sparchez, Zeno Sparchez, Nydia Acevedo Silva, Ana V. Villarreal Treviño, Yuridiana Ramirez Loyola, Talia Diaz Prieto, Enrique Faugier Fuentes, Maria D. R. Maldonado Velazquez, Pilar Perez, Sagar Bhattad, Ranjana Minz, Jitendra Shandilya, Pediatric Allergy and Immunology Unit, PGIMER, Chandigarh, Ana Villarreal, Yuridiana Ramírez, Zeynep Birsin Özçakar, Suat Fitoz, Fatos Yalcinkaya, Annacarin Horne, Francesca Minoia, Francesca Bovis, Sergio Davi, Priyankar Pal, Kimo Stein, Sandra Enciso, Michael Jeng, Despoina Maritsi, Randy C. Cron, Anne Thorwarth, Sae Lim von Stuckrad, Angela Rösen-Wolff, Hella Luksch, Patrick Hundsdoerfer, Peter Krawitz, Nuray Aktay Ayaz, Doğan Simsek, Şebnem Sara Kılıc, Emine Sonmez, Aysenur Pac Kisaarslan, Ozge Altug Gucenmez, Z. Serap Arıcı, Fatih Kelesoglu, Zelal Ekinci Ekinci, Maria Miranda-Garcia, Carolin Pretzer, Michael Frosch, F. Gohar, Angela McArdle, Niamh Callan, Belinda Hernandez, Miha Lavric, Oliver FitzGerald, Stephen R. Pennington, Joachim Peitz, Joern Kekow, Ariane Klein, Anna C. Schulz, Frank Weller-Heinemann, Anton Hospach, J-Peter Haas, BIKER collaborative group, Karen Put, Jessica Vandenhaute, Anneleen Avau, Annemarie van Nieuwenhuijze, Ellen Brisse, Tim Dierckx, Omer Rutgeerts, Josselyn E. Garcia-Perez, Jaan Toelen, Mark Waer, Georges Leclercq, An Goris, Johan Van Weyenbergh, Adrian Liston, Patrick Matthys, Carine H. Wouters, Yasuo Nakagishi, Michael J. Ombrello, Victoria Arthur, Anne Hinks, Patricia Woo, International Childhood Arthritis Genetics (INCHARGE) Consortium, Barbara Stanimirovic, Biljana Djurdjevic-Banjac, Olivera Ljuboja, Boris Hugle, MArgarita Onoufriou, Olga Vougiouka, Kenza Bouayed, Sanae El Hani, Imane Hafid, Nabiha Mikou, Nunu Shelia, Mari Laan, Jaanika Ilisson, and Chris Pruunsild

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2017
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130. Low-pressure hydrocephalus in tuberculous meningitis

Author

Bülent Sekerel, Keriman Tinaztepe, Gülsev Kale, and Sabiha Ayusn

Subjects
medicine.medical_specialty, Developmental Neuroscience, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Low pressure hydrocephalus, business, medicine.disease, Tuberculous meningitis, Surgery
Published
1992
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131. Classification of congenital muscular dystrophy

Author

Safiye Göüş, Melda çalar, Haluk Topalolu, Yavuz Renda, Kalbiye Yalaz, Kıvılcım Gücüyener, and Gülsev Kale

Subjects
Pediatrics, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Medicine, business, medicine.disease
Published
1990
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132. Different features of lung involvement in Niemann-Pick disease and Gaucher disease

Author

Ebru Yalcin, Nural Kiper, Bora Gülhan, Güzin Cinel, Deniz Dogru Ersoz, Figen Gürakan, Ugur Ozcelik, Safak Gucer, Diclehan Orhan, Gülsev Kale, Aysel Yüce, and Çocuk Sağlığı ve Hastalıkları

Subjects
Pulmonary and Respiratory Medicine, Lung Diseases, Male, Pathology, medicine.medical_specialty, Respiratory System, Atelectasis, Niemann Pick disease, Lung biopsy, Gaucher disease, Lung involvement, medicine, Humans, Hepatopulmonary syndrome, Child, Respiratory Tract Infections, Retrospective Studies, Niemann-Pick Diseases, Bronchiectasis, Lung, medicine.diagnostic_test, business.industry, Bronchial cast, Interstitial lung disease, Infant, Flexible bronchoscopy, respiratory system, medicine.disease, Respiration Disorders, respiratory tract diseases, Radiography, Bronchoalveolar lavage, medicine.anatomical_structure, Child, Preschool, Cardiovascular System & Cardiology, Female, Differential diagnosis, business
Abstract

Background: Niemann-Pick disease (NPD) and Gaucher disease (GD) are well-known lysosomal storage diseases. Respiratory system involvement is an important cause of morbidity and mortality in patients with NPD and GD. Objectives: We tried to assess the clinical, radiological, and histological features of GD and NPD patients with lung involvement. Methods: We reviewed medical history, physical examination, radiological, and histological data of 10 NPD and 7 GD patients. Results: The most common respiratory symptoms were recurrent lung infection and dyspnea. Although lung examination results in 6 NPD patients were normal, they had lung involvement; 3 patients were diagnosed as NPD directly via lung biopsy during investigation of recurrent lung infection or interstitial lung disease. All GD patients but 1 had respiratory system symptoms at the time of diagnosis. Hepatopulmonary syndrome was present in 4 GD patients. A ground-glass pattern and atelectasis were 2 important high-resolution computed tomography features in the NPD and GD patients. Flexible bronchoscopy and bronchoalveolar lavage were used for emergency extraction of bronchial casts in 1 NPD patient. Conclusions: Lung involvement in NPD and GD patients should be included in the differential diagnosis of interstitial lung disease. Besides interstitial appearance on HRCT, atelectasis related to bronchial cast and bronchiectasis are other radiological findings in these group of patients. Analysis of bronchoalveolar fluid and lung biopsy provide very important clues for diagnosis. Hepatopulmonary syndrome is an important vascular complication observed in GD patients. (C) 2012 Elsevier Ltd. All rights reserved.

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133. Congenital muscular dystrophy (non-Fukuyama type) in Turkey: a clinical and pathological evaluation

Author

Haluk Topaloglu, Kalbiye Yalaz, Gülsev Kale, Göğüş S, Yavuz Renda, and Melda Çağlar

Subjects
Male, Pediatrics, medicine.medical_specialty, Pathology, Turkey, business.industry, Infant, General Medicine, medicine.disease, Muscular Dystrophies, Geographic distribution, Developmental Neuroscience, Child, Preschool, Pediatrics, Perinatology and Child Health, medicine, Congenital muscular dystrophy, Humans, Female, Neurology (clinical), Muscular dystrophy, business, Child, Pathological
Abstract

Congenital muscular dystrophy (CMD) is a heterogenous group of disorders. In the majority of cases the intelligence is preserved, which comprises the classic "occidental" (type 1) form. This type appears to be prevalent in the west. We report a five-case series in Turkey, confirming its geographical distribution.

Published
1989

134. Fatal mumps myocarditis

Author

Süheyla Özkutlu, A S Calikoglu, Gülsev Kale, O Soylemezoglu, and E Karaaslan

Subjects
Male, Pathology, medicine.medical_specialty, Pediatrics, Myocarditis, Conduction disorders, Interstitial nephritis, Refractory, Heart Conduction System, Heart Rate, medicine, Humans, Child, Mumps, business.industry, Myocardium, Mumps myocarditis, Acute Kidney Injury, medicine.disease, Clinical diagnosis, Nephritis, Interstitial, Viral disease, Cardiology and Cardiovascular Medicine, business, Nephritis
Abstract

The case of a 9 year old boy with acute renal failure and myocarditis as complications of mumps is reported. The cardiac rhythm and conduction disorders which appeared after admission were refractory to treatment and the outcome was fatal. On necropsy, minimal interstitial nephritis and myocarditis were seen, confirming the clinical diagnosis.

Published
1989

135. CLINICAL FEATURES AND TREATMENT RESULTS OF CHILDREN WITH DIFFUSE LARGE B CELL LYMPHOMA

Author

Erman Ataş, Ali Varan, M. Tezer Kutluk, Gülsev Kale, Canan Akyüz, Bilgehan Yalçın, Münevver Büyükpamukçu, and Burca Aydin

Subjects
Male, medicine.medical_specialty, Multivariate analysis, Adolescent, Turkey, Disease, Treatment results, Disease-Free Survival, hemic and lymphatic diseases, Internal medicine, medicine, Advanced disease, Humans, Stage (cooking), Child, Survival rate, business.industry, Infant, Hematology, medicine.disease, Surgery, Lymphoma, Treatment Outcome, Oncology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Lymphoma, Large B-Cell, Diffuse, business, Diffuse large B-cell lymphoma
Abstract

The demographic, clinical characteristics, and treatment groups of 33 children with diffuse large B-cell lymphoma (DLBCL) were recorded and analyzed among 1486 non-Hodgkin lymphoma (NHL) cases since 1972. The median age was 9.7 years (range 1.4-16.9) and male/female ratio was 24/9 = 2.6. Kaplan-Meier methods and logrank tests were used in treatment analysis. The frequency of DLBCL among 1486 NHL cases was 2.2%, however, the percentage was 9.3% in cases diagnosed after 2000. The event-free survival (EFS) and overall survival (OS) rates for 33 children were 61% and 65.1% at 5 years, respectively. The EFS and OS rates of low stage (stages I and II) disease decreased to lower level in advanced stage (stages III and IV) disease. Associated conditions and ages older than 14 years were found as poor prognostic factors in multivariate analysis. The survival rates in children with DLBCL need further improvement. This is mainly related with late referral of those children with advanced disease. The proper diagnosis and early referral is essential in these children for a better survival rate. The children with associated conditions and older children must be handled with care since these are found as poor prognostic factors.

136. MUSCULAR DYSTROPHY OR SPINAL MUSCULAR ATROPHY?

Author

Haluk Topaloglu, Kivilcim Gucuyener, Yavuz Renda, and Gülsev Kale

Subjects
business.industry, medicine, General Medicine, Spinal muscular atrophy, Anatomy, Muscular dystrophy, medicine.disease, business, Muscle contracture
Published
1989
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137. Achondrogenesis type II

Author

H. Copur, Gülsev Kale, Mehmet Ceyhan, Ergul Tuncbilek, U. Dilmen, and I. S. Kaya

Subjects
Pediatrics, medicine.medical_specialty, Achondrogenesis, business.industry, Radiography, Infant, Newborn, Dwarfism, Enchondromatosis, Osteochondrodysplasias, medicine.disease, Infant newborn, Pediatrics, Perinatology and Child Health, medicine, Humans, Female, Radiology, Nuclear Medicine and imaging, business, Neuroradiology
Published
1988
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