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6. Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

Author

Guran, Tulay, Buonocore, Federica, Saka, Nurcin, Ozbek, Mehmet Nuri, Aycan, Zehra, Bereket, Abdullah, Bas, Firdevs, Darcan, Sukran, Bideci, Aysun, Guven, Ayla, Demir, Korcan, Akinci, Aysehan, Buyukinan, Muammer, Aydin, Banu Kucukemre, Turan, Serap, Agladioglu, Sebahat Yilmaz, Atay, Zeynep, Abali, Zehra Yavas, Tarim, Omer, Catli, Gonul, Yuksel, Bilgin, Akcay, Teoman, Yildiz, Metin, Ozen, Samim, Doger, Esra, Demirbilek, Huseyin, Ucar, Ahmet, Isik, Emregul, Ozhan, Bayram, Bolu, Semih, Ozgen, Ilker Tolga, Suntharalingham, Jenifer P., and Achermann, John C.

Published
2016

11. Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

Author

Cangul, Hakan, Morgan, Neil V., Forman, Julia R., Saglam, Halil, Aycan, Zehra, Yakut, Tahsin, Gulten, Tuna, Tarim, Omer, Bober, Ece, Cesur, Yasar, Kirby, Gail A., Pasha, Shanaz, Karkucak, Mutlu, Eren, Erdal, Cetinkaya, Semra, Bas, Veysel, Demir, Korcan, Yuca, Sevil A., Meyer, Esther, Kendall, Michaela, Hogler, Wolfgang, Barrett, Timothy G., and Maher, Eamonn R.

Published
2010
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13. Considerations about dietary fat restrictions for children

Author

Lifshitz, Fima and Tarim, Omer

Subjects
Dietary fat -- Analysis, Children -- Food and nutrition, Food/cooking/nutrition
Abstract

Expert panels recommend reduction of dietary fat and cholesterol, because excessive fat intake may lead to known health hazards. However, there are no data demonstrating beneficial effects of such diets starting in childhood for all children, including those with normal serum cholesterol levels. Dietary restrictions in early life may not necessarily induce a long-lasting decrease in blood cholesterol levels in children persisting into adulthood or reduce disease incidence. On the other hand, the result of such diets may be suboptimal growth and development. Furthermore, low fat diets may lower high density lipoprotein cholesterol levels and not specifically low density lipoprotein cholesterol. In addition, low serum cholesterol levels may be associated with increased mortality, including deaths due to accidents, which is most important in children. Recently, increased attention has been drawn to the association between short stature and/or nutritional status and deficiencies in intrauterine and early life with coronary artery disease in adulthood. Also, the problems of associated psychological consequences, family conflicts and cost should not be ignored while implementing a low fat diet. in this review, we discuss the controversies on dietary fat restrictions for children. J. Nutr. 126: 1031S-1041S, 1996. INDEXING KEY WORDS: diet, fat, cholesterol, growth, children

Published
1996

14. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

Author

Cangul, Hakan, Liao, Xiao-Hui, Schoenmakers, Erik, Kero, Jukka, Barone, Sharon, Srichomkwun, Panudda, Iwayama, Hideyuki, Serra, Eva G, Saglam, Halil, Eren, Erdal, Tarim, Omer, Nicholas, Adeline K, Zvetkova, Ilona, Anderson, Carl A, Frankl, Fiona E Karet, Boelaert, Kristien, Ojaniemi, Marja, Jääskeläinen, Jarmo, Patyra, Konrad, Löf, Christoffer, Williams, E Dillwyn, UK10K Consortium, Soleimani, Manoocher, Barrett, Timothy, Maher, Eamonn R, Chatterjee, V Krishna, Refetoff, Samuel, Schoenmakers, Nadia, Cangul, Hakan Istanbul Medipol Univ, Dept Med Genet, Int Sch Med, Istanbul, Turkey, Liao, Xiao-Hui, Srichomkwun, Panudda, Iwayama, Hideyuki, Refetoff, Samuel Univ Chicago, Dept Med, 5841 S Maryland Ave, Chicago, IL 60637 USA, Schoenmakers, Erik, Nicholas, Adeline K., Zvetkova, Ilona, Chatterjee, V. Krishna, Schoenmakers, Nadia Univ Cambridge, Metabol Res Labs, Wellcome Trust Med Res Council, Inst Metab Sci,Addenbrookes Hosp, Level 4,Box 289,Hills Rd, Cambridge CB2 0QQ, England, Kero, Jukka, Patyra, Konrad, Lof, Christoffer Univ Turku, Res Ctr Integrat Physiol & Pharmacol, Inst Biomed, Turku, Finland, Kero, Jukka Turku Univ Hosp, Dept Paediat, Turku, Finland, Barone, Sharon, Soleimani, Manoocher Univ Cincinnati, Cincinnati, OH USA, Soleimani, Manoocher Vet Adm Hosp, Cincinnati, OH USA, Serra, Eva G., Anderson, Carl A. Wellcome Trust Sanger Inst, Dept Human Genet, Cambridge, England, Saglam, Halil, Eren, Erdal, Tarim, Omer Uludag Univ, Sch Med, Dept Paediat Endocrinol, Bursa, Turkey, Frankl, Fiona E. Karet Univ Cambridge, Dept Med Genet, Cambridge, England, Frankl, Fiona E. Karet Univ Cambridge, Div Renal Med, Cambridge, England, Boelaert, Kristien Univ Birmingham, Inst Metab & Syst Res, Birmingham, W Midlands, England, Boelaert, Kristien Birmingham Hlth Partners, Ctr Endocrinol Diabet & Metab, Birmingham, W Midlands, England, Ojaniemi, Marja Univ Oulu, PEDEGO Res Ctr, Oulu, Finland, Ojaniemi, Marja Univ Oulu, MRC Oulu, Oulu, Finland, Ojaniemi, Marja Oulu Univ Hosp, Dept Children & Adolescents, Oulu, Finland, Jaaskelainen, Jarmo Univ Eastern Finland, Dept Pediat, Kuopio, Finland, Jaaskelainen, Jarmo Kuopio Univ Hosp, Kuopio, Finland, Williams, E. Dillwyn Univ Cambridge, Thyroid Carcinogenesis Grp, Strangeways Res Lab, Cambridge, England, Consortium, Ukk Univ Birmingham, Consortium Detailed Supplemental Acknowledgments, Birmingham, W Midlands, England, Barrett, Timothy Univ Birmingham, Inst Canc & Genom Sci, Coll Med & Dent Sci, Birmingham, W Midlands, England, Barrett, Timothy Birmingham Childrens Hosp, Dept Endocrinol, Birmingham, W Midlands, England, Maher, Eamonn R. Univ Cambridge, Dept Med Genet, Cambridge, England, Maher, Eamonn R. NIHR Cambridge Biomed Res Ctr, Cambridge, England, Refetoff, Samuel Univ Chicago, Dept Pediat, Chicago, IL 60637 USA, Refetoff, Samuel Univ Chicago, Comm Genet, Chicago, IL USA, Barrett, Timothy -- 0000-0002-6873-0750, MAHER, EAMONN R -- 0000-0002-6226-6918, Schoenmakers, Nadia -- 0000-0002-0847-2884, Eren, Erdal -- 0000-0002-1684-1053, Kelly, Kirsten -- 0000-0003-4234-543X, kero, jukka -- 0000-0001-8767-7222, Anderson, Carl -- 0000-0003-1719-7009, Schoenmakers, Erik [0000-0003-0674-8282], Karet, Fiona [0000-0002-2457-2869], Maher, Eamonn [0000-0002-6226-6918], Chatterjee, Krishna [0000-0002-2654-8854], Schoenmakers, Nadia [0000-0002-0847-2884], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, endocrine system, endocrine system diseases, DNA Mutational Analysis, Thyroid Gland, Antiporters, Vestibular Aqueduct, Monogenic diseases, Mice, Endocrinology, Exome Sequencing, Genetics, Congenital Hypothyroidism, otorhinolaryngologic diseases, Animals, Humans, Molecular genetics, Hearing Loss, Child, Mice, Knockout, Goiter, Homozygote, Middle Aged, Thyroid disease, Pedigree, HEK293 Cells, Codon, Nonsense, Sulfate Transporters, FOS: Biological sciences, Child, Preschool, Female, Aqueduct EVA
Abstract

WOS: 000447709700003 PubMed ID: 30333321 Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism also occurs in Slc26a7-null mice. In both species, the gene is expressed predominantly in the thyroid gland, and loss of function is associated with impaired availability of iodine for thyroid hormone synthesis, partially corrected in mice by iodine supplementation. SLC26A7 is a member of the same transporter family as SLC26A4 (pendrin), an anion exchanger with affinity for iodide and chloride (among others), whose gene mutations cause congenital deafness and dyshormonogenic goiter. However, in contrast to pendrin, SLC26A7 does not mediate cellular iodide efflux and hearing in affected individuals is normal. We delineate a hitherto unrecognized role for SLC26A7 in thyroid hormone biosynthesis, for which the mechanism remains unclear. Wellcome Trust; NIDDK NIH HHS [R37 DK015070, R01 DK015070]; Medical Research Council [MC_UU_12012/5, G0600717, G0502115]

Published
2018

15. Nationwide Hypophosphatemic Rickets Study

Author

Siklar, Zeynep, Turan, Serap, Abdullah Bereket, Abaci, Ayhan, Bas, Firdevs, Demir, Korcan, Guran, Tulay, Akberzade, Azad, Bober, Ece, Ozbek, Mehmet Nuri, Kara, Cengiz, Poyrazoglu, Sukran, Aydin, Murat, Kardelen, Asli, Tarim, Omer, Eren, Erdal, Hatipoglu, Nihal, Buyukinan, Muammer, Akyurek, Nesibe, Cetinkaya, Semra, Bayramoglu, Elvan, Eklioglu, Beray Selver, Ucakturk, Ahmet, Abali, Saygin, Goksen, Damla, Kor, Yilmaz, Unal, Edip, Esen, Ihsan, Yildirim, Ruken, Akin, Onur, Cay, Atilla, Dilek, Emine, Kirel, Birgul, Anik, Ahmet, Catli, Gonul, and Berberoglu, Merih

Published
2018

16. Fatal anaphylaxis in a very young infant possibly due to a partially hydrolyzed whey formula

Author

Tarim, Omer, Anderson, Virginia M., Lifshitz, Fima, and Harrison, Gail G.

Subjects
Anaphylaxis -- Causes of, Food allergy in children -- Complications, Infant formulas -- Health aspects, Health
Abstract

The case of a seven-week-old infant who died of an anaphylactic reaction to cow's milk illustrates that physicians must exert caution when changing feeding formulas in infants with food allergies. Anaphylaxis is a severe allergic reaction. After ingesting a cow's milk formula, the infant vomited and developed a body rash. The formula was switched to another cow-based product and then to a soy-based formula, both of which caused the rash to worsen and become crusty. The infant was then switched to a partially hydrolyzed whey formula. After two feedings, the infant had difficulty breathing and had watery stools. Blood testing revealed the presence of antibodies to proteins in milk, soybeans, and wheat which indicated an allergic reaction to these foods. In addition, there was a family history of allergies. Within eight hours after the first whey formula feeding, the infant suffered severe wheezing and respiratory distress. Upon arrival at the hospital, the infant's heart had stopped beating. Emergency medical treatment was unsuccessful and the infant died.

Published
1994

17. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

Author

Cangul, Hakan, primary, Liao, Xiao-Hui, additional, Schoenmakers, Erik, additional, Kero, Jukka, additional, Barone, Sharon, additional, Srichomkwun, Panudda, additional, Iwayama, Hideyuki, additional, Serra, Eva G., additional, Saglam, Halil, additional, Eren, Erdal, additional, Tarim, Omer, additional, Nicholas, Adeline K., additional, Zvetkova, Ilona, additional, Anderson, Carl A., additional, Frankl, Fiona E. Karet, additional, Boelaert, Kristien, additional, Ojaniemi, Marja, additional, Jääskeläinen, Jarmo, additional, Patyra, Konrad, additional, Löf, Christoffer, additional, Williams, E. Dillwyn, additional, Soleimani, Manoocher, additional, Barrett, Timothy, additional, Maher, Eamonn R., additional, Chatterjee, V. Krishna, additional, Refetoff, Samuel, additional, and Schoenmakers, Nadia, additional

Published
2018
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19. CLINICAL AND LABORATORY CHARACTERISTICS OF HYPERPROLACTINEMIC CHILDREN AND ADOLESCENTS: NATIONAL SURVEY

Author

Eren, Erdal, Ergur, Ayca Torel, Isguven, Sukriye Pinar, Bitkin, Eda Celebi, Berberoglu, Merih, Siklar, Zeynep, Genens, Mikayir, Dogan, Murat, Yel, Servet, Bas, Serpil, Sobu, Elif, Bereket, Abdullah, Turan, Serap, Saglam, Halil, Atay, Zeynep, Ercan, Oya, Guran, Tulay, Atabek, Mehmet Emre, Korkmaz, Huseyin Anil, Ugurlu, Aylin Kilinc, Aysehan Akinci, Doger, Esra, Simsek, Enver, Akbas, Emine Demet, Yesilkaya, Ediz, Abaci, Ayhan, Gul, Ulku, Acar, Sezer, Ucakturk, Eda Mengen, Yildiz, Melek, Unal, Edip, and Tarim, Omer

Published
2017

20. Effects of long-term consumption of high fructose corn syrup containing peach nectar on body weight gain in sprague dawley rats

Author

OZCAN SINIR, Gulsah, primary, SUNA, Senem, additional, INAN, Sevda, additional, BAGDAS, Deniz, additional, TAMER, Canan Ece, additional, COPUR, Omer Utku, additional, SIGIRLI, Deniz, additional, SARANDOL, Emre, additional, SONMEZ, Gursel, additional, ERCAN, Ilker, additional, EVRENSEL, Turkkan, additional, TARIM, Omer Faruk, additional, EREN, Erdal, additional, UYLASER, Vildan, additional, and INCEDAYI, Bige, additional

Published
2017
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21. Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort

Author

Bolu, Semih, Ozhan, Bayram, Ucar, Ahmet, Demirbilek, Huseyin, Yavas Abali, Zehra, Bas, Firdevs, Berberoglu, Merih, Hacihamdioglu, Bulent, Achermann, John C., Eren, Erdal, Guran, Tulay, Buonocore, Federica, Saka, Nurcin, Özen, Samim, Ozbek, Mehmet Nuri, Aycan, Zehra, Bereket, Abdullah, Darcan, Sukran, Bideci, Aysun, Turan, Serap, Guven, Ayla, Tarim, Omer, ÖZGEN, İLKER TOLGA, Agladioglu, Sebahat Yilmaz, Isik, Emregul, Atay, Zeynep, Demir, Korcan, Akinci, Aysehan, Gurbuz, Fatih, Kucukemre Aydin, Banu, Buyukinan, Muammer, Yuksel, Bilgin, Doger, Esra, Yildiz, Metin, Akcay, Teoman, Kara, Cengiz, Catli, Gonul, and ÖZGEN, İLKER TOLGA

Subjects
Molecular and Clinical Characterisation of a Nationwide Cohort-, 54th Annual meeting of ESPE, Barcelona, İspanya, 01 October 2015 [Guran T., Buonocore F., Saka N., Ozbek M. N. , Aycan Z., Bereket A., Bas F., Darcan S., Bideci A., Turan S., et al., -Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia]
Published
2015

23. Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

Author

Meyer, Esther, Pasha, Shanaz, Kirby, Gail A., Kendall, Michaela, Barrett, Timothy G., Yuca, Sevil A., Tarim, Omer, BÖBER, ECE, Cesur, Yasar, Maher, Eamonn R., Karkucak, Mutlu, Cetinkaya, Semra, Forman, Julia R., Eren, Erdal, Hogler, Wolfgang, YAKUT, TAHSİN, Aycan, Zehra, Cangul, Hakan, Gulten, Tuna, DEMİR, KORCAN, Saglam, Halil, Morgan, Neil V., Bas, Veysel, and CESUR, YAŞAR

Subjects
Homeodomain Proteins, Models, Molecular, endocrine system, Turkey, genetic structures, endocrine system diseases, DNA Mutational Analysis, Receptors, Thyrotropin, Thyrotropin, beta Subunit, United Kingdom, eye diseases, Pedigree, Consanguinity, PAX8 Transcription Factor, Mutation, Congenital Hypothyroidism, Homeobox Protein Nkx-2.5, Humans, Paired Box Transcription Factors, Pakistan, hormones, hormone substitutes, and hormone antagonists, Transcription Factors
Abstract

Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Because consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inheritance and allows firmer correlations to be established between genotype and phenotype, we planned to execute our study in consanguineous families.Hundred and thirty-nine children with CHNG phenotype born to consanguineous families.First, we investigated cases for evidence of linkage to the four known CHNG genes by microsatellite marker analysis. Mutation analysis by direct sequencing was then performed in those cases in whom linkage to the relevant candidate gene could not be excluded. In addition, in silico analysis of the predicted structural effects of TSHR mutations was performed and related to the mutation-specific disease phenotype.Homozygous germline TSHR mutations were detected in six families (5%), but no mutations were detected in PAX8, TSHB and NKX2-5. Four of TSHR mutations had not previously been described. Genotype-phenotype correlations were established and found to be related to the predicted structural effects of the mutations.Known causative genes account for the development of CHNG only in a minority of cases, and our cohort should provide a powerful resource to identify novel causative genes and to delineate the extent of locus heterogeneity in autosomal recessively inherited CHNG.

Published
2010

24. Novel TSHR mutations in consanguineous families with congenital non-goitrous hypothyroidism

Author

Cangul, Hakan, Morgan, Neil V, Forman, Julia R, Saglam, Halil, Aycan, Zehra, Yakut, Tahsin, Gulten, Tuna, Tarim, Omer, Bober, Ece, CESUR, Yasar, Kirby, Gail A, Pasha, Shanaz, Karkucak, Mutlu, Eren, Erdal, Bas, Veysel, Demir, Korcan, Medical & Molecular Genetics, University of Birmingham, School of Clinical and Experimental Medicine, Atelier de BioInformatique (ABI), Université Pierre et Marie Curie - Paris 6 (UPMC), Department of Paediatric Endocrinology, Uludag University School of Medicine, Uludağ Üniversitesi = Uludag University-Uludağ Üniversitesi = Uludag University, Division of Paediatric Endocrinology, Dr Sami Ulus Woman Health, Children Research Hospital, Department of Medical Genetics, Department of Paediatrics, Division of Endocrinology, Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ), Departments of Pediatric Endocrinology, and Faculty of Medicine ,Yüzüncü Yıl University

Subjects
Medicine
Abstract

International audience; Objective: Non-syndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB, and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG. Design: Since consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inheritance and allows firmer correlations to be established between genotype and phenotype, we planned to execute our study in consanguineous families. Patients: 139 children with CHNG phenotype born to consanguineous families. Measurements: First we investigated cases for evidence of linkage to the four known-CHNG genes by microsatellite marker analysis. Mutation analysis by direct sequencing was then performed in those cases in whom linkage to the relevant candidate gene could not be excluded. In addition in silico analysis of the predicted structural effects of TSHR mutations was performed and related to the mutation specific disease phenotype. Results: Homozygous germline TSHR mutations were detected in 6 families (5%), but no mutations were detected in PAX8, TSHB, and NKX2-5. Four of TSHR mutations had not previously been described. Genotype-phenotype correlations were established and found to be related to the predicted structural effects of the mutations. Conclusions: Known-causative genes account for the development of CHNG only in a minority of cases and our cohort should provide a powerful resource to identify novel causative genes and to delineate the extent of locus heterogeneity in autosomal recessively inherited CHNG.

Published
2010
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29. TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis

Author

Cangul, Hakan, primary, Aycan, Zehra, additional, Saglam, Halil, additional, Forman, Julia R., additional, Cetinkaya, Semra, additional, Tarim, Omer, additional, Bober, Ece, additional, Cesur, Yasar, additional, Kurtoglu, Selim, additional, Darendeliler, Feyza, additional, Bas, Veysel, additional, Eren, Erdal, additional, Demir, Korcan, additional, Kiraz, Aslihan, additional, Aydin, Banu K., additional, Karthikeyan, Ambika, additional, Kendall, Michaela, additional, Boelaert, Kristien, additional, Shaw, Nick J., additional, Kirk, Jeremy, additional, Högler, Wolfgang, additional, Barrett, Timothy G., additional, and Maher, Eamonn R., additional

Published
2012
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37. An essential splice site mutation (c.317+1G>A) in the TSHRgene leads to severe thyroid dysgenesis

Author

Cangul, Hakan, Saglam, Halil, Saglam, Yaman, Eren, Erdal, Dogan, Durmus, Kendall, Michaela, Tarim, Omer, Maher, Eamonn R., and Barrett, Timothy G.

Abstract

AbstractCongenital hypothyroidism (CH) is the most common neonatal endocrine disorder and 2% of cases have familial origin. Our aim in this study was to determine the genetic alterations in two siblings with CH coming from a consanguineous family. Because CH is often inherited in autosomal recessive manner in consanguineous/multicase-families, we first performed genetic linkage studies to all known causative CH loci followed by conventional sequencing of the linked gene. The family showed potential linkage to the TSHRlocus, and we detected an essential splice site mutation (c.317+1G>A) in both siblings. RT-PCR analysis confirmed the functionality of the mutation. The mutation was homozygous in the cases whereas heterozygous in carrier parents and an unaffected sibling. Here we conclude that thyroid agenesis in both siblings in this study originates from c.317+1G>A splice site mutation in the TSHRgene, and this study underlines the importance of detailed molecular genetic studies in the definitive diagnosis and classification of CH.

Published
2014
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38. A deletion including exon 2 of the TSHRgene is associated with thyroid dysgenesis and severe congenital hypothyroidism

Author

Cangul, Hakan, Schoenmakers, Nadia A., Saglam, Halil, Doganlar, Durmus, Saglam, Yaman, Eren, Erdal, Kendall, Michaela, Tarim, Omer, Barrett, Timothy G., Chatterjee, Krish, and Maher, Eamonn R.

Abstract

AbstractCongenital hypothyroidism (CH) is the most common neonatal endocrine disorder and 2% of cases have a familial origin. Our aim in this study was to determine the genetic alterations in two siblings with CH coming from a consanguineous family. As CH is often inherited in an autosomal recessive manner in consanguineous/multi case-families, we first performed genetic linkage studies to all known causative CH loci followed by conventional sequencing of the linked gene. The family showed potential linkage to the TSHRlocus and our attempts to amplify and sequence exon 2 of the TSHRgene continuously failed. Subsequent RT-PCR analysis using mRNA and corresponding cDNA showed a large deletion including the exon 2 of the gene. The deletion was homozygous in affected cases whilst heterozygous in carrier parents. Here we conclude that CH in both siblings of this study originates from a large deletion including the exon 2 of the TSHRgene. This study demonstrates that full sequence analysis in a candidate CH gene might not always be enough to detect genetic alterations, and additional analyses such as RT-PCR and MLPA might be necessary to describe putative genetic causes of the disease in some cases. It also underlines the importance of detailed molecular genetic studies in the definitive diagnosis and classification of CH.

Published
2014
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39. TSHRis the main causative locus in autosomal recessively inherited thyroid dysgenesis

Author

Cangul, Hakan, Aycan, Zehra, Saglam, Halil, Forman, Julia R., Cetinkaya, Semra, Tarim, Omer, Bober, Ece, Cesur, Yasar, Kurtoglu, Selim, Darendeliler, Feyza, Bas, Veysel, Eren, Erdal, Demir, Korcan, Kiraz, Aslihan, Aydin, Banu K., Karthikeyan, Ambika, Kendall, Michaela, Boelaert, Kristien, Shaw, Nick J., Kirk, Jeremy, Högler, Wolfgang, Barrett, Timothy G., and Maher, Eamonn R.

Abstract

AbstractCongenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. Eighty-five percent of CH cases are due to disruptions in thyroid organogenesis and are mostly sporadic, but about 2% of thyroid dysgenesis is familial, indicating the involvement of genetic factors in the aetiology of the disease. In this study, we aimed to investigate the Mendelian (single-gene) causes of non-syndromic and non-goitrous congenital hypothyroidism (CHNG) in consanguineous or multicase families. Here we report the results of the second part (n=105) of our large cohort (n=244), representing the largest such cohort in the literature, and interpret the overall results of the whole cohort. Additionally, 50 sporadic cases with thyroid dysgenesis and 400 unaffected control subjects were included in the study. In familial cases, first, we performed potential linkage analysis of four known genes causing CHNG (TSHR, PAX8, TSHB, and NKX2-5) using microsatellite markers and then examined the presence of mutations in these genes by direct sequencing. In addition, in silico analyses of the predicted structural effects of TSHRmutations were performed and related to the mutation specific disease phenotype. We detected eight new TSHRmutations and a PAX8mutation but no mutations in TSHBand NKX2-5. None of the biallelic TSHRmutations detected in familial cases were present in the cohort of 50 sporadic cases. Genotype/phenotype relationships were established between TSHRmutations and resulting clinical presentations. Here we conclude that TSHRmutations are the main detectable cause of autosomal recessively inherited thyroid dysgenesis. We also outline a new genetic testing strategy for the investigation of suspected autosomal recessive non-goitrous CH.

Published
2012
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45. Evaluation of patients with Graves' disease

Author

Poyrazoglu, Sukran, Saka, Nurcin, Bas, Firdevs, Isguven, Pinar, Dogu, Aysegul, Turan, Serap, Abdullah Bereket, Sarikaya, Sevil, Adal, Erdal, Cizmeci, Filiz, Saglam, Halil, Ercan, Oya, Memioglu, Nihal, Gunoz, Hulya, Bundak, Ruveyde, Darendeliler, Feyza, Yildiz, Metin, Guran, Tulay, Akcay, Teoman, Akin, Leyla, Hatun, Sukru, Tarim, Omer, and Onal, Hasan

46. Evaluation of Children with Goiter and Treatment Outcomes

Author

Karali, Yasin, Halil Sağlam, Kamber, Kadri, Karali, Zuhal, Sigirli, Deniz, and Tarim, Omer

Subjects
endocrine system, Goiter,euthyroid,childhood,hypothyroidism,hyperthyroidism,L-thyroxine, endocrine system diseases, Guatr,ötiroid,çocukluk çağı,hipotiroidizm,hipertiroidizm,L-tiroksin
Abstract

Amaç: Guatr etiyolojik nedene bakılmaksızın tiroid bezinin büyümesi olaraktanımlanır. Çocukluk yaş grubunda, özellikle ergenlerde yaygındır. Ülkemizdeyapılan değişik çalışmalarda 6-12 yaş arası çocuklarda guatr prevalansı%24,9-92 arasında saptanmıştır. Endemik bölgelerde guatrın en sık nedeniiyot eksikliği iken endemik olmayan bölgelerde kronik lenfositik tiroidittir. Buçalışmanın amacı guatr tanısı konan hastalarımızın demografik ve tanısalözellikleri, izlem süresince muayene, radyoloji, laboratuvar bulguları ve uygulanan tedavilerin etkinliğinin değerlendirilmesidir.Gereç ve Yöntem: Ocak 2000-Aralık 2005 tarihleri arasında Uludağ Üniversitesi Tıp Fakültesi Çocuk Endokrinoloji Bilim Dalı polikliniğinden fizik muayene vetiroid ultrasonografisi bulgularına göre 116 hasta guatr tanısı aldı. Hastalarınverileri dosya kayıtlarından geriye dönük olarak incelendi. Guatr evresi Dünya Sağlık Örgütü WHO evrelemesine göre yapıldı. Tiroid hacimleri tiroid boyutlarının ultrasonografik ölçümü ile hesaplandı. Ötiroid ve hipotiroid hastalarL-tiroksin tedavisi, hipertiroid olgular propiltiourasil ve propranolol tedavilerialdı. Bulgular: Çocukların 80’i %69 kız, 36’sı %31 erkek idi. Tanı anında kızlarınve erkeklerin yaş ortalaması sırasıyla 10,1±2,9 yıl, 9,02 ± 3,6 yıl idi. Ortalama takip süresi 3,18 ± 1,83 yıl idi. Tanı anında hastaların çoğu %76,7 , Evre Ib %38,8 ve Evre II %37,9 guatr evresindeydi. Tüm çocuklardan 62’si %53,4 ötiroid, 47’si %40,5 hipotiroid ve 7’si %6,0 hipertiroid idi. Hastalardan 79’unda %68,1 ailede tiroid hastalığı öyküsü mevcuttu. Ayrıca, 11 hastada % 9,5 eşlik eden başka bir endokrinolojik hastalık mevcut iken 11’inde % 9,5 epilepsi öyküsü ve 7’sinde %6 ise başka bir sistemik hastalık mevcuttu. Basit difüz guatrlı 83 %71,6 hasta mevcut iken, 18 Hashimoto tiroiditli 4’ünde nodülmevcut , 11 %9,4 izole nodüler ya da multinodüler guatrlı, 1 %0,9 papiller tiroid kanserli ve 3 %2,6 Graves hastalığı olan olgu vardı. Ortalama tiroid hacmi tedaviyle 12,68±6,48 3,4-35,7 ml’den anlamlı bir şekilde 9,2±3,57 3,19-22,1 ml’ye azalmıştır p, Aim: Goiter is defined as the enlargement of thyroid gland independent of the etiology. It is common in childhood, especially in adolescence. The prevalence of goiter in children aged 6 to 12 years of age was found as 24.9 to 92% indifferent studies performed in different regions of Turkey. The most common cause in endemic regions is iodine deficiency and it is chronic lymphocytic thyroiditis in non-endemic areas. The aim of this study was to evaluate the demographic and diagnostic characteristics; and physical, laboratory and radiological findings of the children who were presented and followed-up with goiter, and the efficacy of the treatments applied was also assessed.Materials and Methods: A total of 116 children diagnosed as having goiter by physical and ultrasonographic examination in the outpatient clinic of Pediatric Endocrinology Division of Uludag University Faculty of Medicine, betweenJanuary 2000 and December 2005. Data of the patient were collected retrospectively from the files/records of the patients. Goiter grades of the patients were determined according to that recommended by WHO. Thyroid volumes were calculated from the ultrasonographic measurement of thyroid dimensions. Patients with euthyroid or hypothyroidgoiter had L-thyroxine therapy and those with hyperthyroidism had propiltiourasil and/or propranolol. Results: Of all children, 80 69% were girls and the remaining 36 were boys 31% . At the time of initial diagnosis, the mean ages of the girls and the boys were 10.1±2.9 years and 9.02± years, respectively. The mean followup period was 3.18±1.83 years. Most children 76.7% had grade Ib 38.8% or II 37.9% goiter at the time of diagnosis. Of all children with goiter, 62 53.4% were euthyroid, 47 40.5% were hypothyroid and 7 6.0% werehyperthyroid. Seventy nine 68.1% patients had history of thyroid disease in their families. There were additionalendocrinological disturbances, epilepsy and other systemic diseases in 11 9.5% , 11 9.5% and 7 6.0% patients,respectively. Eighty three 71.6% patients had simple diffuse goiter, 18 had Hashimoto thyroiditis 4 of whom also having nodules , 11 10.4% had isolated nodüler/multinodüler goiter, 3 2.6% had Graves disease and 1 0.9% had papillary thyroid carcinoma. Mean thyroid volume by ultrasonography was significantly decreased from12.68±3.57 3.4 to 35.7 ml to 9.2±3.57 3.19 to 22.1 ml with the treatment p

48. Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey

Author

Tulay Guran, Ilknur Arslanoglu, Ala Üstyol, Sukran Poyrazoglu, Derya Karaman Aksakal, Songül Karadeniz, Nurcan Cebeci, Olcay Evliyaoğlu, Halim Issever, Nihal Memioglu, Ahmet Uçar, Serap Semiz, Firdevs Bas, Didem Bezen, Feyza Darendeliler, Erdal Adal, Gül Yeşiltepe Mutlu, Hasan Önal, Saygin Abali, Abdurrahman Akgun, Serpil Bas, Nese Akcan, Sevil Sarikaya, Gulcan Seymen Karabulut, Ayla Güven, Ömer Tarım, Elif Sagsak, Melek Yildiz, Esra Deniz Papatya Cakir, Havva Nur Peltek, Bahar Ozcabi, Teoman Akcay, Aysegul Yuksel, Şükrü Hatun, Zeynep Atay, Hüseyin Anıl Korkmaz, Mehmet Azizoğlu, Oya Ercan, Pinar Isguven, Aydilek Dağdeviren, Abdullah Bereket, Filiz Tutunculer, Erdal Eren, Semih Bolu, Serap Turan, Tolga Özgen, Filiz Mine Çizmecioğlu, Emine Dilek, Yaşar Cesur, Heves Kırmızıbekmez, Metin Yildiz, Zehra Yavas Abali, Rüveyde Bundak, Cigdem Binay, Fatma Dursun, Acibadem University Dspace, YILDIZ, Mehmet, Tıp Fakültesi, Poyrazoglu, Sukran, Bundak, Ruveyde, Abali, Zehra Yavas, Onal, Hasan, Sarikaya, Sevil, Akgun, Abdurrahman, Bas, Serpil, Abali, Saygin, Bereket, Abdullah, Eren, Erdal, Tarim, Omer, Guven, Ayla, Yildiz, Metin, Aksakal, Derya Karaman, Yuksel, Aysegul, Karabulut, Gulcan Seymen, Hatun, Sukru, Ozgen, Tolga, Cesur, Yasar, Azizoglu, Mehmet, Dilek, Emine, Tutunculer, Filiz, Cakir, Esra Papatya, Ozcabi, Bahar, Evliyaoglu, Olcay, Karadeniz, Songul, Dursun, Fatma, Bolu, Semih, Arslanoglu, Ilknur, Mutlu, Gul Yesiltepe, Kirmizibekmez, Heves, Isguven, Pinar, Ustyol, Ala, Adal, Erdal, Ucar, Ahmet, Cebeci, Nurcan, Bezen, Didem, Binay, Cigdem, Semiz, Serap, Korkmaz, Huseyin Anil, Memioglu, Nihal, Sagsak, Elif, Peltek, Havva Nur, Yildiz, Melek, Akcay, Teoman, Turan, Serap, Guran, Tulay, Atay, Zeynep, Akcan, Nese, Cizmecioglu, Filiz, Ercan, Oya, Dagdeviren, Aydilek, Bas, Firdevs, Issever, Halim, Darendeliler, Feyza, Darendeliler, Feyza Istanbul Univ, Dept Pediat Endocrinol, Istanbul Fac Med, Istanbul, Turkey, Bundak, Ruveyde Univ Kyrenia, Dept Pediat Endocrinol, Fac Med, Kyrenia, North Cyprus, Turkey, Yildiz, Melek Kanuni Sultan Suleyman Training & Res Hosp, Clin Pediat Endocrinol & Metab Dis, Istanbul, Turkey, Atay, Zeynep Marmara Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Abali, Saygin Kartal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Tarim, Omer Uludag Univ, Dept Pediat Endocrinol, Fac Med, Bursa, Turkey, Guven, Ayla Amasya Univ, Dept Pediat Endocrinol, Fac Med, Amasya, Turkey, Akcan, Nese Goztepe Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Cizmecioglu, Filiz Kocaeli Univ, Dept Pediat Endocrinol, Fac Med, Kocaeli, Turkey, Hatun, Sukru Koc Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Cesur, Yasar Bezmialem Vakif Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Tutunculer, Filiz Trakya Univ, Dept Pediat Endocrinol, Fac Med, Edirne, Turkey, Cakir, Esra Papatya Bakirkoy Dr Sadi Konuk Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Cakir, Esra Papatya Sevket Yilmaz Training & Res Hosp, Clin Pediat Endocrinol, Bursa, Turkey, Dagdeviren, Aydilek Istanbul Univ, Dept Pediat Endocrinol, Cerrahpasa Fac Med, Istanbul, Turkey, Kirmizibekmez, Heves Zeynep Kamil Womens & Childrens Dis Training & Re, Clin Pediat Endocrinol, Istanbul, Turkey, Dursun, Fatma Umraniye Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Arslanoglu, Ilknur Duzce Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Isguven, Pinar Sakarya Univ, Dept Pediat Endocrinol, Fac Med, Sakarya, Turkey, Ustyol, Ala Haseki Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Atay, Zeynep Medipol Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Ucar, Ahmet Sisli Etfal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Cebeci, Nurcan Derince Training & Res Hosp, Clin Pediat Endocrinol, Kocaeli, Turkey, Bezen, Didem Okmeydani Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Binay, Cigdem Corlu State Hosp, Clin Pediat Endocrinol, Tekirdag, Turkey, Semiz, Serap Acibadem Univ, Clin Pediat Endocrinol, Fac Med, Istanbul, Turkey, Korkmaz, Huseyin Anil Balikesir Ataturk State Hosp, Clin Pediat Endocrinol, Balikesir, Turkey, Memioglu, Nihal Amer Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Sagsak, Elif Gaziosmanpasa Taksim Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Peltek, Havva Nur Edirne Sultan 1 Murat State Hosp, Clin Pediat Endocrinol, Edirne, Turkey, Akcay, Teoman Med Pk Gaziosmanpasa Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Akcan, Nese Univ Near East, Dept Pediat Endocrinol, Fac Med, Nicosia, North Cyprus, Turkey, Issever, Halim Istanbul Univ, Dept Publ Hlth, Istanbul Fac Med, Istanbul, Turkey, ABALI, SAYGIN -- 0000-0001-6552-2801, Turan, Serap -- 0000-0002-5172-5402, Hatun, Sukru -- 0000-0003-1633-9570, yesiltepe mutlu, gul -- 0000-0003-3919-7763, and [Poyrazoglu, Sukran -- Bundak, Ruveyde -- Abali, Zehra Yavas -- Bas, Firdevs -- Darendeliler, Feyza] Istanbul Univ, Dept Pediat Endocrinol, Istanbul Fac Med, Istanbul, Turkey -- [Bundak, Ruveyde] Univ Kyrenia, Dept Pediat Endocrinol, Fac Med, Kyrenia, North Cyprus, Turkey -- [Onal, Hasan -- Sarikaya, Sevil -- Akgun, Abdurrahman -- Yildiz, Melek] Kanuni Sultan Suleyman Training & Res Hosp, Clin Pediat Endocrinol & Metab Dis, Istanbul, Turkey -- [Bas, Serpil -- Abali, Saygin -- Bereket, Abdullah -- Turan, Serap -- Guran, Tulay -- Atay, Zeynep] Marmara Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Abali, Saygin] Kartal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Eren, Erdal -- Tarim, Omer] Uludag Univ, Dept Pediat Endocrinol, Fac Med, Bursa, Turkey -- [Guven, Ayla] Amasya Univ, Dept Pediat Endocrinol, Fac Med, Amasya, Turkey -- [Guven, Ayla -- Yildiz, Metin -- Aksakal, Derya Karaman -- Akcan, Nese] Goztepe Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Yuksel, Aysegul -- Karabulut, Gulcan Seymen -- Hatun, Sukru -- Mutlu, Gul Yesiltepe -- Cizmecioglu, Filiz] Kocaeli Univ, Dept Pediat Endocrinol, Fac Med, Kocaeli, Turkey -- [Hatun, Sukru] Koc Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Ozgen, Tolga -- Cesur, Yasar] Bezmialem Vakif Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Azizoglu, Mehmet -- Dilek, Emine -- Tutunculer, Filiz] Trakya Univ, Dept Pediat Endocrinol, Fac Med, Edirne, Turkey -- [Cakir, Esra Papatya] Bakirkoy Dr Sadi Konuk Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Cakir, Esra Papatya] Sevket Yilmaz Training & Res Hosp, Clin Pediat Endocrinol, Bursa, Turkey -- [Ozcabi, Bahar -- Evliyaoglu, Olcay -- Karadeniz, Songul -- Ercan, Oya -- Dagdeviren, Aydilek] Istanbul Univ, Dept Pediat Endocrinol, Cerrahpasa Fac Med, Istanbul, Turkey -- [Ozcabi, Bahar -- Mutlu, Gul Yesiltepe -- Kirmizibekmez, Heves] Zeynep Kamil Womens & Childrens Dis Training & Re, Clin Pediat Endocrinol, Istanbul, Turkey -- [Dursun, Fatma] Umraniye Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Bolu, Semih -- Arslanoglu, Ilknur] Duzce Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Isguven, Pinar] Sakarya Univ, Dept Pediat Endocrinol, Fac Med, Sakarya, Turkey -- [Ustyol, Ala] Haseki Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Adal, Erdal -- Atay, Zeynep] Medipol Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Ucar, Ahmet] Sisli Etfal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Cebeci, Nurcan] Derince Training & Res Hosp, Clin Pediat Endocrinol, Kocaeli, Turkey -- [Bezen, Didem] Okmeydani Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Binay, Cigdem] Corlu State Hosp, Clin Pediat Endocrinol, Tekirdag, Turkey -- [Semiz, Serap] Acibadem Univ, Clin Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Korkmaz, Huseyin Anil] Balikesir Ataturk State Hosp, Clin Pediat Endocrinol, Balikesir, Turkey -- [Memioglu, Nihal] Amer Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Sagsak, Elif] Gaziosmanpasa Taksim Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Peltek, Havva Nur] Edirne Sultan 1 Murat State Hosp, Clin Pediat Endocrinol, Edirne, Turkey -- [Akcay, Teoman] Med Pk Gaziosmanpasa Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Akcan, Nese] Univ Near East, Dept Pediat Endocrinol, Fac Med, Nicosia, North Cyprus, Turkey -- [Issever, Halim] Istanbul Univ, Dept Publ Hlth, Istanbul Fac Med, Istanbul, Turkey

Subjects
Male, Turkey, Epidemiology, Endocrinology, Diabetes and Metabolism, Cohort Studies, MELLITUS, 0302 clinical medicine, Endocrinology, Rapidly Rising Incidence, Diagnosis, Prevalence, EPIDEMIOLOGY, Registries, 030212 general & internal medicine, Child, Geography, Incidence, Incidence (epidemiology), PREVALENCE, TIME, Seasonal-Variatin, Child, Preschool, Original Article, Female, Seasons, Male predominance, Cohort study, Adolescent, SEASONAL-VARIATION, Type 1 diabetes mellitus, 030209 endocrinology & metabolism, RAPIDLY RISING INCIDENCE, DIAGNOSIS, NATIONWIDE INCIDENCE, World health, Time, Nationwide Incidence, 03 medical and health sciences, Diabetes mellitus, POYRAZOĞLU Ş., BUNDAK R., Yavaş A., ÖNAL H., SARıKAYA S., AKGÜN A., BAŞ S., ABALı S., BEREKET A., EREN E., et al., -Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey-, Journal of clinical research in pediatric endocrinology, cilt.10, ss.336-342, 2018, medicine, Humans, childhood, Onset, Type 1 diabetes, Standard Population, business.industry, Mellitus, Infant, Newborn, Infant, Type 1 Diabetes Mellitus, medicine.disease, TRENDS, Childhood, Confidence interval, Diabetes Mellitus, Type 1, ONSET, Pediatrics, Perinatology and Child Health, incidence, Trends, business, Demography
Abstract

ABALI, SAYGIN/0000-0001-6552-2801; Turan, Serap/0000-0002-5172-5402; Hatun, Sukru/0000-0003-1633-9570; Akgun, Abdurrahman/0000-0002-2917-2469; yesiltepe mutlu, gul/0000-0003-3919-7763; Ozgen, Ilker Tolga/0000-0001-6592-9652 WOS: 000451667000006 PubMed: 29789274 Objective: To assess the incidence of type I diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9. 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6 %) were girls and 911 (51.4%)were boys. The mean age at diagnosis was 9.2 +/- 4.2 years and it was not significantly different between girls (9.0 +/- 4.1 years) and boys (9.4 +/- 4.4 years) (p = 0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95% CI: 8.58-9.42). Although mean incidence was similar between boys [8.98/100.000 (CI: 8.40 to 9.58)] and girls [9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/1 00.000 respectively. The incidence of T1DM was similar over the course of three years (p = 0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study.

Published
2018

49. Nationwide Turkish cohort study of hypophosphatemic rickets

Author

Saygin Abali, Ihsan Esen, Ahmet Uçaktürk, Semra Cetinkaya, Ayhan Abacı, Azad Akberzade, Korcan Demir, Gönül Çatlı, Tulay Guran, Serap Turan, Damla Gökşen, Birgül Kirel, Yilmaz Kor, Ömer Tarım, Nihal Hatipoglu, Mehmet Nuri Ozbek, Zeynep Şıklar, Aslı Derya Kardelen, Ahmet Anık, Nesibe Akyürek, Atilla Cayir, Elvan Bayramoğlu, Murat Aydin, Ece Böber, Sukran Poyrazoglu, Erdal Eren, Onur Akın, Merih Berberoğlu, Edip Unal, Cengiz Kara, Ruken Yıldırım, Beray Selver Eklioğlu, Abdullah Bereket, Firdevs Bas, Emine Dilek, Muammer Buyukinan, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı., Tarım, Ömer, CCU-8073-2022, Siklar, Zeynep, Turan, Serap, Bereket, Abdullah, Bas, Firdevs, Guran, Tulay, Akberzade, Azad, Abaci, Ayhan, Demir, Korcan, Bober, Ece, Ozbek, Mehmet Nuri, Kara, Cengiz, Poyrazoglu, Sukran, Aydin, Murat, Kardelen, Asli, Tarim, Omer, Eren, Erdal, Hatipoglu, Nihal, Buyukinan, Muammer, Akyurek, Nesibe, Cetinkaya, Semra, Bayramoglu, Elvan, Eklioglu, Beray Selver, Ucakturk, Ahmet, Abali, Saygin, Goksen, Damla, Kor, Yilmaz, Unal, Edip, Esen, Ihsan, Yildirim, Ruken, Akin, Onur, Cayir, Atilla, Dilek, Emine, Kirel, Birgul, Anik, Ahmet, Catli, Gonul, Berberoglu, Merih, Ege Üniversitesi, OMÜ, Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı, and Ünal, Edip

Subjects
Fibroblast growth factor 23, Male, Turkey, Endocrinology, Diabetes and Metabolism, Parathyroid hormone, Gene sequence, Treatment response, Gastroenterology, Pediatrics, Gene, 0302 clinical medicine, Endocrinology, Medicine, Child, Endocrinology & metabolism, Linear growth, Dentin matrix protein 1, Depression, Parathyroid hyperplasia, Phosphorus, Hip dysplasia, Management, Osteotomy, Hypophosphatemic rickets, Tooth abscess, Blood, Cohort studies, Cohort analysis, Cohort study, Human, medicine.medical_specialty, Entesopathy, Phosphate, Major clinical study, Article, 0-Belirlenecek, 03 medical and health sciences, Sodium phosphate cotransporter 2c, Alkaline phosphatase, Genetic screening, Wrist disease, Genetics, Humans, Short children, Cross-sectional study, Growth-hormone treatment, Questionnaire, PHEX, Puberty, Infant, Frontal bossing, lcsh:Pediatrics, Follow up, medicine.disease, 030104 developmental biology, Albright syndrome, Calcium-regulating hormones and agents, 0301 basic medicine, Cystinosis, Rickets, hypophosphatemic, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Bone pain, Turkey (bird), PHEX protein, Hyperparathyroidism, Phosphaturia, Genetic analysis, Kidney tubule absorption, lcsh:RJ1-570, Tyrosinemia, Combination drug therapy, Hypertension, Lordosis, Original Article, Female, Nephrocalcinosis, medicine.drug, Phosphate regulating neutral endopeptidase, Kidney tubule disorder, Ligament disease, Calcitriol, Adolescent, Child, preschool, CLCN5 gene, Oncogenic Osteomalacia, Familial Hypophosphatemic Rickets, Cancer, Drug therapy, combination, 030209 endocrinology & metabolism, Administration and dosage, Follow-up studies, Widening of wrist, Phosphates, PHEX phosphate regulating neutral endopeptidase, Internal medicine, Valgus knee, Gene mutation, Growth hormone, Craniofacial synostosis, Outcome assessment, health care, Kidney calcification, Prepuberty, lcsh:RC648-665, business.industry, Treatment, Hypophosphatemic Rickets, 25 hydroxyvitamin D, Clinical feature, Preschool child, Pediatrics, Perinatology and Child Health, business
Abstract

Çalışmada 24 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır. Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods: Here we present nationwide initial and follow-up data on HR. Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n = 75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7 +/- 2.4 years. During the first 3-years of treatment (n = 91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38, -2.77, -2.72, -2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p > 0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year Pill was higher. However, higher treatment doses of phosphate and calcitriol were Found in the NC group. Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.

Published
2019

50. Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

Author

Ömer Tarım, Aylin Kılınç Uğurlu, Hüseyin Anıl Korkmaz, Serap Turan, Emine Demet Akbaş, Esra Döğer, Zeynep Atay, Sezer Acar, Mehmet Emre Atabek, Serpil Bas, Ayhan Abaci, Ayça Törel Ergür, Melek Yildiz, Halil Saglam, Oya Ercan, Tulay Guran, Eda Celebi Bitkin, Ulku Gul, Zeynep Şıklar, Merih Berberoğlu, Eda Mengen Uçaktürk, Abdullah Bereket, Edip Unal, Elif Söbü, Firdevs Bas, Servet Yel, Ayşehan Akıncı, Enver Simsek, Erdal Eren, Şükriye Pınar İşgüven, OMÜ, Kırıkkale Üniversitesi, Eren, Erdal, Ergur, Ayca Torel, Isguven, Sukriye Pinar, Bitkin, Eda Celebi, Berberoglu, Merih, Siklar, Zeynep, Bas, Firdevs, Yel, Servet, Bas, Serpil, Sobu, Elif, Bereket, Abdullah, Turan, Serap, Saglam, Halil, Atay, Zeynep, Ercan, Oya, Guran, Tulay, Atabek, Mehmet Emre, Korkmaz, Huseyin Anil, Ugurlu, Aylin Kilinc, Akinci, Aysehan, Doger, Esra, Simsek, Enver, Akbas, Emine Demet, Abaci, Ayhan, Gul, Ulku, Acar, Sezer, Ucakturk, Eda Mengen, Yildiz, Melek, Unal, Edip, Tarim, Omer, İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Eren, E, Ergur, AT, Isguven, SP, Bitkin, EC, Berberoglu, M, Siklar, Z, Bas, F, Yel, S, Bas, S, Sobu, E, Bereket, A, Turan, S, Saglam, H, Atay, Z, Ercan, O, Guran, T, Atabek, ME, Korkmaz, HA, Ugurlu, AK, Akinci, A, Doger, E, Simsek, E, Akbas, ED, Abaci, A, Gul, U, Acar, S, Ucakturk, EM, Yildiz, M, Unal, E, Tarim, O, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, İşgüven, Şükriye Pınar, and Çukurova Üniversitesi

Subjects
Male, Pediatrics, Turkey, Endocrinology, Diabetes and Metabolism, lcsh:Diseases of the endocrine glands. Clinical endocrinology, surgery, 0302 clinical medicine, Endocrinology, Surveys and Questionnaires, 030212 general & internal medicine, Child, microadenomas, lcsh:RJ1-570, Prognosis, Gynecomastia, Child, Preschool, OBESITY, Cohort, cabergoline, Female, Original Article, macroadenomas, medicine.symptom, Headaches, medicine.drug, Adenoma, Galactorrhea, medicine.medical_specialty, prolactin, Adolescent, 030209 endocrinology & metabolism, Short stature, 03 medical and health sciences, children, Cabergoline, medicine, Humans, Retrospective Studies, lcsh:RC648-665, business.industry, Infant, lcsh:Pediatrics, medicine.disease, PROLACTIN RECEPTOR, Bromocriptine, Hyperprolactinemia, Pituitary, Pediatrics, Perinatology and Child Health, Etiology, business, MACROPROLACTINOMAS, Biomarkers, Follow-Up Studies
Abstract

siklar, zeynep/0000-0003-0921-2694; Eren, Erdal/0000-0002-1684-1053; Turan, Serap/0000-0002-5172-5402; Bas, Firdevs/0000-0001-9689-4464; Ercan, Oya/0000-0001-7397-2837; Bas, Serpil/0000-0001-6210-4807; berberoglu, merih/0000-0003-3102-0242; Torel Ergur, Ayca/0000-0002-7792-1727; Yel, Servet/0000-0001-6889-4504; Mengen, Eda/0000-0003-1597-8418 WOS:000469271100006 PubMed ID: 30396878 Objective: We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study. Methods: We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia. Complaints of the patients, their mode of treatment (medication and/or surgery) and outcomes were evaluated in detail. Results: The mean age of the patients with hyperprolactinemia was 14.5 years, and 88.4% were females. In terms of etiology, microadenomas were observed in 32.6 %, macroadenomas in 27 %, idiopathic hyperprolactinemia in 22.7% and drug-induced hyperprolactinemia in 6.4 %. Other causes of hyperprolactinemia were defined in 11.3%. Common complaints in females (n = 206) were sorted into menstrual irregularities, headaches, galactorrhea, primary or secondary amenorrhea and weight gain, whereas headache, gynecomastia, short stature and blurred vision were common in males (n = 27). Median prolactin levels were 93.15 ng/mL, 241.8 ng/ml, 74.5 ng/mL, 93.2 ng/mL, and 69 ng/mL for microadenomas, macroadenomas, idiopathic hyperprolactinemia, drug-induced hyperprolactinemia, and other causes of hyperprolactinemia, respectively. Of 172 patients with hyperprolactinemia, 77.3 % were treated with cabergoline and 13.4 % with bromocriptine. 20.1 % of the patients with pituitary adenomas underwent pituitary surgery. Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised. Turkish Pediatric Endocrinology and Diabetes Society [2015-1136]; National Pediatric Endocrinology Society This work was supported by a grant from the Turkish Pediatric Endocrinology and Diabetes Society (2015-1136). The authors would like to thank the National Pediatric Endocrinology Society for financial and technical support for the paper.

Published
2019

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