Ruveyde Bundak | Istanbul University (original) (raw)

Papers by Ruveyde Bundak

Journal of Clinical Research in Pediatric Endocrinology, 2015

Children with Turner syndrome (TS) have a specific growth pattern that is quite different from th... more Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3 rd , 10 th , 25 th , 50 th , 75 th , 90 th and 97 th percentile values for defined ages and to construct growth curves for height-forage , weight-forage and BMI-forage of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.

Hormone Research in Paediatrics

Background: Diabetes diagnosed within the first 6 months of life is defined as neonatal diabetes ... more Background: Diabetes diagnosed within the first 6 months of life is defined as neonatal diabetes mellitus (NDM). Mutations in the KCNJ11, ABCC8, and INS genes are the most common cause of permanent NDM. In populations with a high rate of consanguinity, Wolcott-Rallison syndrome caused by biallelic EIF2AK3 mutations is common. Methods: We studied the clinical characteristics and underlying genetic cause of disease in 15 individuals with diabetes onset before 6 months of age as defined by sustained hyperglycaemia requiring insulin treatment. Patients who had a remission of the diabetes, defined by a normal blood glucose and HbA1c value without insulin or sulphonylurea (SU) treatment, within the first 18 months of life were classified as having transient NDM (TNDM). Results: We report 15 patients with NDM from 14 unrelated families, including 10 with reported parental consanguinity. 1/15 patients had a remission of diabetes, leading to a diagnosis of TNDM. Mutations were detected in 80...

BMJ Case Reports

Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple conge... more Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain–hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature. Here, we presented an unusual presentation of JS in a newborn with MPHD. This case is intended to draw attention to the rare association of JS and MDPH by increasing the awareness of this syndrome.

Journal of Clinical Research in Pediatric Endocrinology

What is already known on this topic? It has been demonstrated that mesangial expansion in diabeti... more What is already known on this topic? It has been demonstrated that mesangial expansion in diabetic nephropathy begins before microalbuminuria occurs. Only a few studies reported to have some alteration of urine levels of Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases levels in patients with type 1 diabetes mellitus and these studies have conflicting results. What this study adds? Our results demonstrated that the indicators of fibrosis in urine do not increase in early stage of the disease. This finding suggests that the chronic changes in the kidney occurs over a long time.

The Journal of steroid biochemistry and molecular biology, 2018

Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11BOHD) is a rare autosom... more Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11BOHD) is a rare autosomal recessive disorder and the second most common form of CAH. To investigate genotype-phenotype correlation and to evaluate clinical characteristics and long-term outcomes of patients with 11BOHD. A total of 28 patients (n = 14, 46,XX; n = 14, 46,XY) with classical 11BOHD from 25 unrelated families were included in this study. Screening of CYP11B1 is performed by Sanger sequencing. Pathogenic features of novel variants are investigated by the use of multiple in silico prediction tools and with family based co-segregation studies. Protein simulations were investigated for two novel coding region alterations. The age at diagnosis ranged from 6 days to 12.5 years. Male patients received diagnose at older ages than female patients. The rate of consanguinity was high (71.4%). Five out of nine 46,XX patients were diagnosed late (age 2-8.7 years) and were assigned as male due to severe masculin...

Journal of clinical research in pediatric endocrinology, Nov 23, 2018

To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years of age in t... more To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. 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. There were 1773 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 (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...

Journal of clinical research in pediatric endocrinology, Jan 29, 2018

17-α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia ... more 17-α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed pu-berty. The disease is associated with bi-allelic mutations in the gene located on chromosome 10q24.3. We aimed to present clinical and genetic findings and follow-up and treatment of 17-OHD patients. We evaluated six patients with 17OHD from five families at presentation and at follow up. Standard deviation score of all auxological measurements was calculated according to national data and karyotype status. gene sequence alterations were investigated in all of the patients. The mean age of patients at presentation was 14.6±4.2 years and mean follow-up time was 5.0±2.7 years. Five patients were referred to us because of delayed puberty and primary amenorrhea and four for hypertension. One novel single nucleotide insertion leading to frame shift and another ultra rare nucleotide alteration leadin...

Pediatric cardiology, 2018

Factors associated with aortic dilation and dissection in patients with Turner syndrome (TS) rema... more Factors associated with aortic dilation and dissection in patients with Turner syndrome (TS) remain unclear. We assessed magnetic resonance imaging-based aortic diameters at nine predefined anatomic positions and examined associations of increased aortic diameters with B-type natriuretic peptide (BNP), A-type NP (ANP), growth hormone treatment, insulin-like growth factor 1 (IGF1), and estrogen status. Forty-seven patients with TS aged 7.3-21 years and 34 healthy peers were enrolled in this study. Aortic diameters were higher in patients with TS at three positions than in controls (p < 0.05). History of GH treatment, pubertal status, and serum estradiol levels were not associated with increased aortic diameters. Patients with TS had higher plasma BNP and ANP levels than controls. BNP and IGF1 were independently associated with the increase in aortic diameters in TS at three positions of the ascending aorta (R2 = 0.361-0.458, p < 0.05 for all). At two positions of the descending...

Pediatric Research

BACKGROUND: In this study, we examined the hypothesis that weight gain and linear growth during t... more BACKGROUND: In this study, we examined the hypothesis that weight gain and linear growth during the first years of life influence the onset of puberty both in girls and in boys. METHODS: A cohort of 157 healthy children, aged 6-9 years, was evaluated and their growth patterns were analyzed retrospectively. Repeated measures mixed model was used to examine the longitudinal anthropometric data. RESULTS: Girls with pubertal signs were heavier than their peers starting at 9 months of age (P = 0.02), and the difference became more evident over time (Po0.001). Accelerated weight gain between 6 and 15 months of age was found to increase the odds of having a pubertal sign at the study visit (odds ratio (OR) = 34.5) after adjusting for birth weight, gestational age and current age, height, weight, and BMI (P = 0.004). Anthropometric indices of boys with or without pubertal signs were not significantly different at the study visit, but boys with accelerated height gain between 9 and 15 months of age were more likely to have pubertal signs (OR = 15.8) after adjusting for birth weight, gestational age and current age, height, weight, and BMI (P = 0.016). CONCLUSION: Early growth acceleration might be important for the timing of puberty in both genders.

Frontiers in Endocrinology, 2017

Introduction: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease... more Introduction: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD. Case presentation: A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits. His ACTH and cortisol levels were persistently low. All other pituitary hormone levels, and adrenal ultrasound and pituitary magnetic resonance imaging results, were normal. Molecular analyses confirmed the diagnosis of CIAD by identifying compound heterozygosity for two mutations in the TBX19 gene. The first was a novel frameshift c.665delG variant in exon 4 of the TBX19 gene, leading to premature termination that was predicted to result in a non-functional truncated protein. The second was a nonsense C-toT transition in exon 6 of the TBX19 gene, resulting in an arg286-to-ter mutation (dbSNP: rs74315376). Both parents were heterozygous for one of the mutations. Conclusion: Here, we presented a new mutation in the TBX19 gene in a patient with CIAD who presented with recurrent respiratory tract infections. This expands the mutation spectrum in this disorder. To conclude, adrenal insufficiency should be considered in patients with unexplained recurrent infections to prevent a delay in diagnosis.

Journal of pediatric and adolescent gynecology, Jan 3, 2017

To investigate the characteristics of children with ovarian cysts at presentation and during foll... more To investigate the characteristics of children with ovarian cysts at presentation and during follow up, and evaluate treatment strategies. Retrospective Study SETTING: Eight Pediatric Endocrinology Clinics, Turkey PARTICIPANTS: A total of 100 children and adolescents with ovarian cysts. Patient data collected via retrospective chart review. Patients were stratified by age into 4 groups (newborns, 1-12 months, 1-8 years, and 8-18 years). Special emphasis was given to torsion and tumor cases, concomitant diseases, treatment modalities and problems during long term follow-up. Most newborns and infants were asymptomatic with the cysts being discovered incidentally; in girls ages 1-8, symptoms were common, including breast budding (47.1%) and vaginal bleeding (29.4%). Girls older than 8 years mostly presented with abdominal pain (31.6%) and menstrual irregularity (21.1%). The vast majority of our patients were diagnosed with a simple ovarian cyst, but 9 patients were found to have ovaria...

Turkiye Klinikleri Journal of Pediatrical Sciences, 2012

Diabetes Research and Clinical Practice, 2016

To evaluate the management strategies, glycemic control and complications of pediatric type 1 dia... more To evaluate the management strategies, glycemic control and complications of pediatric type 1 diabetes mellitus (T1DM) patients in Turkey. Study included 498 patients with T1DM between the ages 1-18. Data provided from patients&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; hospital files were recorded on standard case report forms by applicant clinicians within the 3months of data collection period between October 2012 and July 2013. Mean age of patients was 11.3±3.8years. Mean duration of DM was determined as 3.7±3.1years. Majority of patients (85.5%) used basal/bolus injection (BBI), and 6.5% used continuous subcutaneous insulin infusion pump. Assessment of glycemic control based on HbA1c levels showed that 29.1% of patients had an HbA1c value &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;7.5% (58mmol/mol), 16.1% had a value between 7.5% (58mmol/mol) and 8% (64mmol/mol), 19.1% had a value between 8.1% (64mmol/mol) and 9%(75mmol/mol) and 35.7% a value &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;9%(75mmol/mol). Hypoglycemia was reported in 145 (29.1%) patients and the number of severe hypoglycemic attacks in the last 3months was 1.0±2.4. Taking into consideration the carbohydrate count and insulin correction dose and parents with high socioeconomic status was related to have better glycemic control. The most common comorbidities were Hashimoto&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s thyroiditis/hypothyroidism (6.2%) followed by celiac disease (3.8%), epilepsy(1.2%), and asthma(1.0%). BBI insulin therapy is widely used among pediatric T1DM patients in Turkey. However, despite improvements in treatment facilities and diabetic care, glycemic control is not at a satisfactory level. Therefore, new and comprehensive initiatives require for pediatric T1DM patients with poor glycemic control. Promoting use of carbohydrate count and insulin correction doses may improve the glycemic control of pediatric T1DM in Turkey.

Acta Paediat, 2007

To construct the body mass index reference curves for Turkish children aged 6 to 18 y, and to det... more To construct the body mass index reference curves for Turkish children aged 6 to 18 y, and to determine the prevalence of overweight and obesity. Height and weight measurements of healthy schoolchildren (1,100 boys, 1,019 girls) were obtained biannually. Body mass index was calculated from 11,648 height and weight measurements. Centile curves were constructed using the LMS method. The smoothed percentile values and curves for body mass index in Turkish children show that there is a constant increase in body mass index values towards adulthood, especially during the pubertal years, in both sexes. The prevalence of overweight is 25% and obesity 4% in boys at age 18 y. The percentage of overweight and obesity in girls at age 14 was 15% and 1%, respectively. The sample size was too small to come to any conclusion regarding these rates at 18 y of age. This study presents data and curves for body mass index values in healthy Turkish children aged 6 to 18 y. The values are in compliance with those of Western countries.

Acta Diabetol, 2005

Our aim was to evaluate prospectively, in our diabetic patients, the impacts of a summer camp and... more Our aim was to evaluate prospectively, in our diabetic patients, the impacts of a summer camp and intensive insulin treatment (IIT) on both metabolic control and disease-related educational level. Twenty-five patients participated in a 7-day-long summer camp. Before the camp, all patients were on therapy with shortacting human insulin (SAI) and intermediate-acting insulin (IAI) twice daily. On arrival, their insulin therapy regimen was changed by IIT including either SAI or rapid-acting insulin analogue (RAI) three times before meals supplemented by IAI at bedtime. Following the camp, all participants were given IIT with RAI plus IAI. Frequency of hypoglycaemia, insulin dose, body mass index (BMI) and glycohaemoglobin (HbA1c) levels were assessed at pre-camp and post-camp controls. To evaluate the effectiveness of camp-assisted education, all participants were regularly tested. We observed significant elevations in total daily dose of insulin and BMI at months 3 and 6 when compared with the pre-camp values but, by month 12, they were not significantly different from precamp values. The mean HbA 1c level decreased significantly at months 6 and 12. Severe hypoglycaemic episodes and ketoacidosis were not detected during the camp and the following year. Significant improvements in knowledge about diabetes and self-management were determined at the end of the camp, after 6 and 12 months. Camp-assisted IIT with RAI improved metabolic control of diabetic children. Additionally, camp-assisted education has a positive effect on disease-related educational level and self-management.

Hormone Research in Paediatrics, Feb 1, 2009

It was the aim of this study to evaluate adult height (AH) and different methods used for estimat... more It was the aim of this study to evaluate adult height (AH) and different methods used for estimation of target height (TH) in children with idiopathic short stature (ISS). Eighty-five ISS children (36 female, 49 male) were followed until AH was evaluated retrospectively. TH was calculated according to the following 4 methods: (1) as +/-6.5 cm to the mean parental heights for boys or girls, respectively, (2) as the mean standard deviation score (SDS) of the parents&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; heights, (3) as the sum of the SDS of the parents&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; heights divided by 1.61, and (4) as the mean SDS of the parents&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; heights multiplied by 0.72. ISS was classified as familial short stature (FSS) if the height was within the TH range and as nonfamilial short stature (NFSS) if it was below the TH range. The number of FSS and NFSS children differed by the method chosen. The mean AH SDS was lower than the TH SDS in FSS in all methods, except in method 3. NFSS children did not attain their TH in either of the methods. Classification of ISS depends on the method of the TH range chosen. ISS children reach a mean AH SDS lower than the mean TH SDS. Only FSS children classified by method 3 reached a mean AH SDS close to the mean TH SDS.

Human Biology, Jul 1, 1987

1. Hum Biol. 1987 Jun;59(3):387-98. Relationships between some maternal factors and pregnancy out... more 1. Hum Biol. 1987 Jun;59(3):387-98. Relationships between some maternal factors and pregnancy outcome. Neyzi O, Günöz H, Celenk A, Dindar A, Bundak R, Sağlam H. Erratum in: Hum Biol 1988 Apr;60(2):following 359. ...