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Your search keyword '"Sema Kabataş Eryılmaz"' showing total 3 results
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3 results on '"Sema Kabataş Eryılmaz"'

1. A Patient with 22q11.2 Deletion Syndrome: case report

Author

Nurçin Saka, Ali Satan, Feyza Darendeliler, Firdevs Bas, Rüveyde Bundak, Sema Kabataş Eryılmaz, and Hülya Günöz

Subjects
Male, Pediatrics, medicine.medical_specialty, Pathology, 22q11 Deletion Syndrome, Hypoparathyroidism, Chromosomes, Human, Pair 22, Endocrinology, Diabetes and Metabolism, Case Reports, Diagnosis, Differential, Endocrinology, Seizures, medicine, Humans, Deletion syndrome, Early childhood, Child, Hypocalcemia, business.industry, Age Factors, Heterozygote advantage, medicine.disease, Recurrent croup, Phenotype, 22q11.2 deletion syndrome, Pediatrics, Perinatology and Child Health, Chromosome Deletion, Differential diagnosis, 22q11 deletion, business
Abstract

22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech development due to velofacial dysfunction, recurrent croup attacks in early childhood due to latent hypocalcemia and mild dysmorphic features. The findings of this patient indicate that 22q11 deletion syndrome may present with a wide spectrum of clinical findings and that this diagnosis needs to be considered even in patients of older ages presenting with hypocalcemia. Conflict of interest:None declared.

Published
2011
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2. Ambulatory blood pressure monitoring and renal functions in term small-for-gestational age children

Author

Feyza Darendeliler, Selman Gökalp, Ilmay Bilge, Sema Kabataş Eryılmaz, Aydan Şirin, Nezih Hekim, Sevinç Emre, Firdevs Bas, and Sukran Poyrazoglu

Subjects
Male, Nephrology, medicine.medical_specialty, Pediatrics, Ambulatory blood pressure, Systolic hypertension, Birth weight, Renal function, Intrauterine growth restriction, Blood Pressure, Kidney Function Tests, Body Mass Index, Internal medicine, Acetylglucosaminidase, Prevalence, medicine, Albuminuria, Birth Weight, Humans, Urea, Child, reproductive and urinary physiology, Fetal Growth Retardation, business.industry, Body Weight, Infant, Newborn, Blood Pressure Monitoring, Ambulatory, medicine.disease, Body Height, female genital diseases and pregnancy complications, Blood pressure, Creatinine, Hypertension, Infant, Small for Gestational Age, Pediatrics, Perinatology and Child Health, Linear Models, Small for gestational age, Female, beta 2-Microglobulin, business, Glomerular Filtration Rate
Abstract

The aim of this study was to investigate the relationship between birth weight and blood pressure (BP) by means of ambulatory BP monitoring (ABPM) and renal functions in non-obese children who were born small-for-gestational age (SGA) at term. The study group consisted of 39 (19 female, 20 male; mean age 8.8 ± 2.6 years) children born SGA. Their data were compared to those of 27 (13 female, 14 male; mean age 8.2 ± 2.9 years) children born appropriate-for-gestational age (AGA). No difference between SGA and AGA children was observed based on office BP measurements and daytime, nighttime and 24-h ABPM. Seventeen SGA (48.6%) and nine AGA (37.5%) children had a 24-h systolic BP (SBP) load over 25%, and seven of these (5 SGA, 2 AGA) were hypertensive according to mean SBP values. The prevalence of the non-dipping phenomenon in SGA and AGA children was similar. Renal functions were normal and similar in both groups. Three children (2 SGA, 1 AGA) with normal glomerular filtration rate had higher microalbumin excretion and one SGA child had systolic hypertension according to the office BP. Our findings demonstrate that the influence of intrauterine growth restriction on BP is not manifested during the childhood period, and they do not support the existence of a negative relationship between birth weight and BP in children.

Published
2010
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3. Follow-up height after discontinuation of growth hormone treatment in children with intrauterine growth retardation

Author

Firdevs Bas, Feyza Darendeliler, Sema Kabataş Eryılmaz, Rüveyde Bundak, Nurçin Saka, and Hülya Günöz

Subjects
Male, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Growth, Endocrinology, Age Determination by Skeleton, Medicine, Humans, Insulin, Child, Acanthosis nigricans, Glycated Hemoglobin, Chemotherapy, Bone Development, Fetal Growth Retardation, Growth retardation, business.industry, Human Growth Hormone, Significant difference, Body Weight, Type 2 Diabetes Mellitus, medicine.disease, Body Height, Discontinuation, Growth hormone treatment, Clinical trial, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, Follow-Up Studies
Abstract

Growth hormone (GH) treatment has been used in children with intrauterine growth retardation (IUGR) to promote growth with success in several short- and long-term clinical trials. Intermittent GH therapy has also been advocated in children with IUGR. This study was designed to evaluate the growth of children with IUGR after discontinuation of a two-year trial of GH treatment. Sixteen children (12 F, 4 M) who had received GH (Genotropin®) at age 5.3 (1.3) years at a dose of 0.2 IU/kg/day for 2 years (Group 1) and 10 (6 F, 4 M) controls of age 4.3 (1.7) years without treatment (Group 2) were followed after completion of the trial over a median period of 4 years. Height SDS of the GH-treated group showed an increase from -3.0 (0.5) to -1.9 (0.7) (p

Published
2002

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