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1. Continuous glucose monitoring in children with glycogen storage disease type I

Author

Kasapkara, C.S., Demir, G. Cinasal, Hasanoglu, A., and Tumer, L.

Subjects
Medical research, Medicine, Experimental, Blood sugar -- Physiological aspects -- Health aspects, Glucose metabolism -- Research, Patient monitoring -- Methods, Food/cooking/nutrition, Health
Abstract

BACKGROUND/OBJECTIVES: Glycogen storage disease type I (GSD I) is an autosomal recessive metabolic disorder caused by defects in the glucose-6-phosphatase complex. Deficient activity in the glucose-6-phosphatase-α catalytic unit characterizes GSD Ia and defects in the glucose-6-phosphate transporter protein characterize GSD Ib. Type Ia involves the liver, kidney and intestine (and Ib also leukocytes), and the clinical manifestations are hepatomegaly, failure to thrive, severe fasting hypoglycemia within 3-4 h after a meal, hyperlactatemia, hyperuricemia and hyperlipidemia. The aim of the present study was to examine the safety and efficacy of a continuous subcutaneous glucose monitoring system to determine the magnitude and significance of hypoglycemia in GSD I and to evaluate the efficacy of the revised dietary treatment. SUBJECTS/METHODS: Sixteen children with GSD I were studied over a 72-h period. Continuous glucose monitoring (CGM) was repeated in all patients 3-6 months after the first monitoring to examine the effects of revised dietary instructions on glycemic control. RESULTS: All the patients completed the study without any major adverse events. Significant periods of asymptomatic hypoglycemia (below 4mmol/l, 70mg/dl) were noted. There was a close correlation between CGM sensor and capillary blood glucose values measured by a glucometer. CGM indicated a considerable reduction in duration of hypoglycemia, liver size and improvements in secondary metabolic derangements such as hyperlacticacidemia and hyperlipidemia. CONCLUSIONS: CGM could be applied in the clinical setting to help the physician to identify hypoglycemic events, and repeated CGM may serve as a safe and useful tool for the assessment of the long-term management of patients with GSD I. European Journal of Clinical Nutrition (2014) 68, 101-105; doi: 10.1038/ejcn.2013.186; published online 23 October 2013 Keywords: glycogen storage disease I; continuous glucose monitoring; metabolic parameters, INTRODUCTION Glycogen storage disease type I (GSD I), characterized by impaired production of glucose from glycogenolysis and gluconeogenesis, results from defects in the glucose 6-phosphate enzyme system. Glucose-6-phosphatase is affected [...]

Published
2014
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4. Management of phenylketonuria in Europe: Survey results from 19 countries

Author

Ozturk, YEŞİM, Niinikoski, H., Bonnemains, C., Marioli, S., Barat, P., De Parscau, L., Meyer, M., Bedu, A., Güttler, F., Pazdirkova, R., Prochazkova, D., Sarnavka, V., Baric, I., Toromanovic, A., Tahirovic, H., Scholl-Bürgi, S., Karall, D., Van Spronsen, F.J., Trefz, Friedrich K., Giovannini, Marcello, Feillet, François, Demirkol, M., Bélanger-Quintana, A., Blau, Nenad, Aydin, H., Coskun, T., Dursun, A., Kalkanoglu, S.H.S., Tokatli, A., Eminoglu, F.T., Hasanoglu, A., Baumgartner, M., Onenli-Mungan, N., Yüksel, B., Gil-Ortega, D., Odent, S., Eyer, D., Labarthe, F., Hennermann, J.B., Mönch, E., Stolz, S., Spiekerkötter, U., Knerr, I., Schwab, K.O., Kreuder, J., Ullrich, K., Das, A.M., Burgard, P., Kon-Stantopoulou, V., Lindner, M., Müller, E., Haase, C., Beblo, S., Weigel, J., Plötzch, S., Muntau, A., Weglage, J., Marquardt, J., Scheible, D., Clemens, P., Schulpis, K.H., Papadia, F., Salardi, S., Meli, C., Donati, M.A., Procopio, E., Cerone, R., Riva, E., Giovannini, M., Paci, S., Carbone, M.T., Burlina, A., Lapichino, L., Cotugno, G., Leuzzi, V., Rubio-Gozalbo, E., De Vries, M., De Klerk, J.B.C., Walter, J., Cleary, M.A., Schwann, B., Robinson, P., Galloway, P., Hendriksz, C.J., Iversen, K., Wiig, I., Jørgensen, J., Milanowski, A., Nowacka, M., Djordjevic, M., Laketa, C., Gutiérrez-Junquera, C., Márquez-Armenteros, A., Vilaseca Busca, M.A., Campistol Plana, J., Peña-Quintana, L., Valverde, F.S., Gonzalez-Lamuno, D., Couce-Pico, M.L., Dalmau Serra, J., Baldellou-Vazquez, A., Garcia-Jimenez, M.C., Papadopoulou, D., Almm, J., Okur, I., Süheyl, E.F., Tumer, L., Aydogdu, S., Aktuglu-Zeybek, A.C., Cansever, S., Arslan, N., Erdur, B., Coker, M., Kalkan, U.S., Hizel-Bülbül, S., Tanzer, F., MacDonald, Anita, MacDonald, A., Chakrapani, A., Gomez, A.R., Fouilhoux, A., Chabrol, B., Wagner, K., Billette De Villemeur, T., De Lonlay-Debeney, P., Ogier De Baulny, H., Halldin Stenlid, M., Nuoffer, J.M., Rohrbach, M., Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM), Kindergeneeskunde, RS: GROW - School for Oncology and Reproduction, University of Zurich, and Blau, N

Subjects
Dieticians, Pediatrics, 1303 Biochemistry, phenylalanine, Endocrinology, Diabetes and Metabolism, Prevalence, CHILDREN, Biochemistry, RECOMMENDATIONS, Endocrinology, Hyperphenylalaninemia, DIETARY CONTROL, Phenylketonurias, Surveys and Questionnaires, Epidemiology, Registries, guidelines, BH4, 1310 Endocrinology, Europe, 2712 Endocrinology, Diabetes and Metabolism, Child, Preschool, 10076 Center for Integrative Human Physiology, CONCURRENT PHENYLALANINE LEVELS, PKU, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Health Planning Guidelines, NEUTRAL AMINO-ACIDS, MEDLINE, 610 Medicine & health, Survey result, 1311 Genetics, Age groups, 1312 Molecular Biology, Genetics, medicine, Humans, Molecular Biology, hyperphenylalaninemia, business.industry, Infant, Newborn, nutritional and metabolic diseases, bh4, diet, pku, Guideline, medicine.disease, TRANSPORT, phenylketonuria, European countries, tetrahydrobiopterin, 10036 Medical Clinic, Health Care Surveys, 570 Life sciences, biology, business, Follow-Up Studies
Abstract

To gain better insight in the most current diagnosis and treatment practices for phenylketonuria (PKU) from a broad group of experts, a European PKU survey was performed. The questionnaire, consisting of 33 questions, was sent to 243 PKU professionals in 165 PKU centers in 23 European countries. The responses were compiled and descriptive analyses were performed. One hundred and one questionnaires were returned by 93/165 centers (56%) from 19/23 European countries (83%). The majority of respondents (77%) managed patients of all age groups and more than 90% of PKU teams included physicians or dieticians/nutritionists. The greatest variability existed especially in the definition of PKU phenotypes, therapeutic blood phenylalanine (Phe) target concentrations, and follow-up practices for PKU patients. The tetrahydrobiopterin (BH4 ; sapropterin) loading test was performed by 54% of respondents, of which 61% applied a single dose test (20mg/kg over 24h). BH4 was reported as a treatment option by 34%. This survey documents differences in diagnostic and treatment practices for PKU patients in European centers. In particular, recommendations for the treatment decision varied greatly between different European countries. There is an urgent need to pool long-term data in PKU registries in order to generate an evidence-based international guideline. Copyright (c) 2009 Elsevier Inc. All rights reserved.

Published
2010

5. COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS A UNIQUE CASE

Author

Arhan, E., Aydin, K., Hirfanoglu, T., Tumer, L., Okur, İLYAS, Serdaroglu, A., Akbas, Y., Karaoglu, B., and Ozturk, Z.

Abstract

Cobalamin C deficiency with infantile spasm and cutaneous findings; a unique case: Cobalamin C (CblC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms methylcobalamin and adenosylcobalamin. Early onset cblC typically presents in the first year of life with hypotonia, lethargy, seizures, microcephaly, hydrocephalus, developmental delay and other multisystem involvement including hematologic, ocular, renal, hepatic and cardiac symptoms. We report a case of a female infant with cblC deficiency who presented with seizures, developmental delay and hypopigmented cutaneous lesions. To our knowledge, the patient is the first diagnosed with cblC deficiency who had skin hypopigmentation.

Published
2015

6. A case with rare type of congenital disorder of glycosylation: PGM1-CDG

Author

EZGÜ, FATİH SÜHEYL, Hasanoglu, A., Kasapkara, C. Seher, Tumer, L., Kucukcongar, A., Matthijs, G., Rymen, D., Dalgic, B., Bideci, A., and Jaeken, J.

Abstract

ispartof: Genetic Counseling vol:26 issue:1 pages:87-90 ispartof: location:Switzerland status: published

Published
2015

7. DGUOK RELATED MITOCHONDRIAL DEPLETION SYNDROME IN A CHILD WITH AN EARLY DIAGNOSIS OF GSDS

Author

De Meirleir, L., Hasanoglu, A., Kucukcongar, A., Tumer, L., Kasapkara, C. S., Seneca, S., Department of Embryology and Genetics, Reproduction and Genetics, Pediatrics, and Neurogenetics

Subjects
mtDNA depletion, DGUOK
Abstract

Mitochondrial DNA (mtDNA) depletion syndrome encompasses a clinically heterogeneous group of disorders sharing marked reduction of mtDNA copy number in one or more tissues. DGUOK (deoxyguanosine kinase, dGK), MPV17, POLG1(polymerase gamma), C100RF2 and RRM2B mutations are the major causes of mitochondrial DNA (mtDNA) depletion associated with hepatocerebral syndromes and mutations in DGUOK are the most commonly reported. Deoxyguanosine kinase catalyzes the first step of the mitochondrial deoxypurine salvage pathway, the phosphorylation of purine deoxyribonucleosides. The two forms of DGUOK deficiency are a hepatocerebral mitochondrial DNA depletion syndrome and isolated hepatic disease. Herein, we describe a homozygous stop codon mutation in the DGUOK gene found in a male patient with a severe clinical phenotype who died of liver failure at the age of four months.

Published
2012

24. CANAVAN DISEASE: CASE REPORT

Author

Ezgu, FATİH SÜHEYL, Hasanoglu, A., Salomons, G. S., Biberoglu, G., Tumer, L., Kasapkara, C. S., and Kucukcongar, A.

Published
2011

27. A NOVEL MUTATION OF THE CLAUDIN 16 GENE IN FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS MIMICKING RICKETS

Author

Cs, Kasapkara, Tumer L, ILYAS OKUR, and Hasanoglu A

Subjects
Renal Tubular Transport, Inborn Errors, Turkey, endocrine system diseases, Homozygote, Hypercalciuria, Membrane Proteins, urologic and male genital diseases, female genital diseases and pregnancy complications, Diagnosis, Differential, Nephrocalcinosis, Phenotype, Child, Preschool, Claudins, Mutation, Humans, Female, Rickets
Abstract

A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FH HNC) is caused by a mutation in the gene CLDN16, which encodes paracellin 1 (claudin-16), a tight junction protein mediating paracellular transport which is expressed in the thick ascending loop of Henle and in the distal convoluted tubule, where reabsorption of magnesium occurs. We present a 4 years old Turkish female child with a chief complaint of hypocalcemic tetany. A diagnosis of FHHNC was confirmed by genetic testing for a mutation in claudin 16 gene. Claudin 16 gene revealed homozygosity for the p.K183E(AAA>GAA) C.547A>G indicating the diagnosis of hypomagnesemia with hypercalciuria and nephrocalcinosis. To our knowledge, this is the first case of FHHNC reported in Turkish population diagnosed at molecular level.

Published
2011

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