Clinical Picture at Attendance and Response to Flexible Family-Based Low-Carb Life Style Change in Children With Obesity

Aim: The study aims 1) to determine the clinical status of obese children at the admittance to the pediatric endocrinology referral center 2) to investigate the efficiency and compliance of the low-carb diet in a pediatric population with or without exercise, metformin Material and Methods: All subjects with the complaint of obesity and BMI percentile >95 were recruited from January 2012-August 2014. We evaluated basal retrospectively, recommended low carbohydrate family-wide eating practice and exercise to all, and metformin to selected cases, and recorded Self-reported adherence at first, third, sixth, and twelfth months. Results: Thirty-six subjects used metformin with a higher ratio of weight loss (90.0%, p=0.010) without a difference in the number of lost kilograms. In 160 cases without metformin; diet only, exercise only, and both diet and exercise groups lost weight significantly according to neither diet nor exercise group (OR:12.08, 95% CI 3.93-41.66, p<0.001; OR:3.04, 95% CI 1.18-7.84, p=0.022 and OR:32.80, 95% CI 7.14-150.77, p<0.001 respectively). Exercise plus diet (95.3%, p=0,002) and only diet (88.9%, p=0,023) were even more efficient than exercise alone (65.5%). In the twelfth month, 13.8% were on follow-up. Conclusion: Obesity gives rise to metabolic complications in the very early stages. A low carbohydrate diet proved to be acceptable and useful. Long-term consistency remains a challenge

The Predictors of Pneumonia in Children with COVID-19

The purpose of this study was to evaluate the relationship between the presence of pneumonia and blood parameters in cases of Coronavirus disease (COVID-19) and to examine their predictive characteristics in terms of pneumonia. We reviewed the file records of 151 pediatric patients with a diagnosis of COVID-19 confirmed by the real time-reverse transcription polymerase chain reaction test in nasopharyngeal swabs. The patients were divided into two groups based on direct chest X-ray and computed tomography results in [Group 1 (n:41), with pneumonia findings, and Group 2 (n:110), with no pneumonia findings]. The groups’ demographic data, clinical and laboratory findings were compared. Pulmonary involvement was determined in 41 (27.1%) of the 151 patients. The [body mass index (BMI) Z-score], red blood cell distribution width (RDW), mean platelet volume (MPV), neutrophil lymphocyte ratio, passive leg raise, and D-dimer levels were significantly higher in patients with pneumonia than those without pneumonia in our study. Based on multivariate logistic regression analysis, BMI Z-score, MPV, and RDW were found to be independent risk factors of pneumonia in patients. The current study showed higher levels of blood parameters in patients with coronavirus disease 2019 (COVID -19) presenting with pneumonia than those without pneumonia. We suggest that BMI-Z score and MPV value may assist in predicting pulmonary involvement in patients with COVID-19

Clinical characteristics and growth hormone treatment in patients with prader-willi syndrome

Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated. Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged. Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start. Keywords: Prader-Willi syndrome, endocrine dysfunction, growth hormone treatment, body compositio

Volume CXIV, Number 4, November 7, 1996

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa

The epidemiological characteristics of diabetic children in the province of Adıyaman

GİRİŞ ve AMAÇ: Retrospektif olarak planlanan çalışma ile diyabetes mellitus (DM) tanısı alan 0-18 yaş arası hastaların klinik ve laboratuvar bulguları ile epidemiyolojik özelliklerinin değerlendirilmesi amaçlanmıştır. YÖNTEM ve GEREÇLER: Çalışmaya Ekim 2016 ile Ağustos 2018 tarihleri arasında Adıyaman Eğitim ve Araştırma Hastanesi Çocuk Endokrinolojisi Kliniği’nde yeni DM tanısı konulan 78 olgu alındı. Hastalar, tanı yaşına ve diyabet türüne [Neonatal DM, Tip 1 DM, Tip 2 DM, Gençlikte Ortaya Çıkan Erişkin Tip Diyabet (MODY)] göre dört gruba ayrıldı. BULGULAR: Diyabet tipleri açısından hastalar incelendiğinde 45 hastada Tip 1DM (%57,7), 13 hastada Tip 2DM (%16,7), 15 hastada MODY tip 2 (%19,2), üç hastada MODY tip 3 (%3,9) ve 2 hastada neonatal DM (%2,5) tespit edildi. Tip 1 DM’nin görülme yaşının sırasıyla 10-14 yaş (%35,6) ve 5-9 yaş (%31,1) grubunda zirve yaptığı görüldü. Cinsiyet açısından gruplar karşılaştırıldığında 0-4 yaş ile 5-9 yaş grubunda kız cinsiyet, 10-14 yaş ile 15-17 yaş grubunda erkek cinsiyet üstünlüğü mevcuttu. Tip 2DM’li hastaların 9’u (%69,2) kız, 4’ü (%30,8) erkek ve tanı anındaki yaş ortalaması 13,2±2,4 yıl idi. MODY olgularının 15’ini (%83,3) GCK-MODY ve 3’ünü (%16,7) HNF1A-MODY olgularının oluşturduğu görüldü. TARTIŞMA ve SONUÇ: Çalışmamızda Adıyaman ilindeki T1DM’li çocukların en sık 10-14 yaş arasında tanı aldığını ve hastalığın 10 yaş altında kızlarda, 10 yaş üzerinde ise erkeklerde daha sık ortaya çıktığını saptadık. T2DM’li çocukların ise ortalama 13,2 yaşında tanı aldığını ve bu hastalarda kız cinsiyet üstünlüğü olduğunu belirledik. Bölgemizde tüm diyabet nedenleri içinde monogenik diyabetin, özellikle de GCK-MODY’nin önemli bir yer işgal ettiğini gösterdik.INTRODUCTION: This retrospective study evaluated the clinical and laboratory findings and epidemiological characteristics of children diagnosed with diabetes mellitus (DM) aged 0-18 years. METHODS: Seventy-eight subjects newly diagnosed with DM at the Adıyaman Training and Research Hospital between October 2016 and August 2018 were enrolled. Patients were divided into four groups based on age at diagnosis and type of diabetes [neonatal DM, Type 1 DM, Type 2 DM, and maturity onset diabetes of the young [MODY]). RESULTS: Type 1 DM was determined in 45 patients (57.7%), Type 2 DM in 13 (16.7%), MODY type 2 in 15 (19.2%), MODY type 3 in three (3.9%) and neonatal DM in two (2.5%). The prevalence of type 1 DM peaked in the 10-14 (35.6%) and 5-9 (31.1%) age groups. Female gender predominated in the 0-4 and 5-9 age groups, and male gender in the 10-14 and 15-17 age groups. Nine (69.2%) patients with type 2 DM were girls and four (30.8%) were boys, and mean age at diagnosis was 13.2±2.4 years. GCK-MODY constituted 15 (83.3%) of the 18 MODY cases, and HNF1A-MODY was diagnosed in three (16.7%). DISCUSSION AND CONCLUSION: Patients with type 1 DM in Adıyaman province were most commonly diagnosed at 10-14 years. The disease more commonly emerged in girls under 10 and in boys over 10. Children with type 2 DM were diagnosed at a mean age of 13.2 years, and female gender predominated among these. Monogenic diabetes, and particularly GCK-MODY, occupies an important place among all causes of diabetes in our region

The Effect of Specialized Education Programs in Diabetic Patients on the Metabolic Parameters

WOS: 000501578900005Amaç: HbA1c metabolik kontrolün ölçüsü olarak kullanılmakta olup, üç aylık ortalama kan şekeri değerini göstermektedir. Diyabet eğitiminin metabolik kontrol, duygusal durum ve öz-bakım üzerine uzun vadeli yararları gösterilmiştir. Bu çalışmada, diyabet kongresi ve yaz okulu öncesi ile sonrasında ölçülen HbA1c düzeyleri karşılaştırılarak, eğitim programının metabolik kontrol üzerindeki etkisinin incelenmesi amaçlandı. Yöntem: Bu çalışmada, diyabet kongresine ve yaz okuluna katılan, diyabetli çocuk ve aileleri ile erişkin diyabetlilere diyabet eğitimi verildi. Katılımcıların eğitim öncesi ve sonrası HbA1c ölçümleri yapıldı. Başka bir klinikten takip edilen hastaların söyledikleri HbA1c değerleri kabul edildi. Bulgular: Bu çalışmada, diyabet kongresine katılan 91 diyabetli arasından, 57 kişi çalışmaya dahil edildi. Yaz okuluna ise 58 diyabetli hasta katıldı. Kongre öncesi ortalama HbA1c değeri 8,88, kongre sonrası 8,76 iken, yaz okulu öncesi ortalama HbA1c değeri 9,94, sonrası ise 9,6 olarak bulundu. Kongre ve yaz okulunun öncesindeki ve sonrasındaki HbA1c düzeyleri arasında istatistiksel olarak anlamlı fark bulunmadı. Sonuç: Çalışmamızda, diyabetli bireylerde komplikasyonların azaltılması için iyi HbA1c değerleri hedeflenmektedir. Bu hedefi tutturmak için bireylerin motivasyonlarının artırılması, hastaların ve ailelerin diyabet eğitimlerinin tekrarlanması ve eğitimin sürekliliği gerekmektedir.Objective: In diabetes mellitus, HbA1c is used as an indicator for metabolic control and shows the average of blood glucose levels over the past three months. Long-term benefits of diabetes education on metabolic control, emotional state and self-care have been shown. In this study, we have compared HbA1c levels measured before and after diabetes congress and summer school and aimed to investigate the effect of the training program on metabolic control. Methods: Diabetes education was provided for diabetic children, their families and adults that attended diabetes congress and summer school. HbA1c levels of the participants were measured before and after diabetes education. For patients followed from another clinics, declared HbA1c values were accepted. Results: Fifty-seven individuals among 91 diabetic patients who attended the Diabetes Congress were included in the study Fifty-eight diabetic patents participated in summer school. Average HbA1c levels of the participants before, and after the congress were found to be 8.88%, and 8.76%, respectively. Average HbA1c levesl were found to be 9.94%, and 9.6% before, and after the summer school trainings, respectively. There was no statistical significant differences between the HbA1c values before and after the education programmes. Conclusion: In diabetic individuals good HbA1c values were targeted to reduce complications. In order to achieve this goal, it is necessary to increase the motivation of the individuals, to repeat, and sustain the diabetes education programs of the patients and their families

Assesment of the effect of summer camp on the life quality of diabetic children

Aim: Type 1 diabetes which is a chronic metabolic disease can affect the quality of life of a person. The aim of this study is to evaluate the life quality of diabetic children and adolescents who are diagnosed with type 1 diabetes mellitus and compare the perceptions of life quality through the life quality scale before and after summer camp.Materials and Method: A scale of life quality was applied to 31 children/adolescents with type 1 Diabetes Mellitus between ages 9-16 years in the Diabetes Summer Camp.Results: The perceived quality of life of children / adolescents with type 1 diabetes were better after diabetes camp (p 0.05). When the Quality of Life Scale scores compared by gender, it was found that the emotional well being and self esteem subscale scores and the total scores of boys were statistically significantly higher after diabetes camp. But the Quality of Life Scale scores of girls did not show a significant increase.Conclusion: This study showed that the diabetes camp, which promoted the ability of diabetic children and adolescents to manage their illnesses, changed the perception of quality of life of male diabetic patients in particular. However, repeating similar studies involving a larger number of cases will allow better evaluation of the results of such activities

Atypical presentation in patients with 17 ?-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature

Background. Patients with 17?-hydroxylase deficiency (17 OHD) usually present with tall stature and eunuchoid features, rather than growth retardation. However, unlike the classic form of the disease, short stature due to a lack of pubertal growth spurt and sex hormone deficiency was present in our four cases. We wanted to emphasize that short stature might be the cause of first presentation in patients with 17 OHD. Cases. We report five patients of Kurdish origin with 17 OHD, four of whom had short stature; two presented because of short stature and two were detected as having short stature. The external genitalia had a female appearance and was prepubertal in all cases. Hypertension was also detected in four of the patients. Serum biochemical and hormonal analyses were performed for each patient. Laboratory data suggesting severe growth hormone (GH) deficiency were obtained from one patient, while the other had a familial history suggesting constitutional delay of growth and puberty (CDGP). Whole exome sequence analysis of the CYP17A1 gene was performed on all patients. STR fragment analysis and multiplex ligation dependent probe amplification (MLPA) analysis was also performed to detect mutations associated with congenital adrenal hyperplasia (CAH) in the CYP17A1 gene. No mutation was detected in the whole exome sequence analysis of the CYP17A1 gene in all five patients, although wide deletions were identified in the 1st–6th exons of this gene at MLPA analysis. Conclusions. Patients with 17?-hydroxylase deficiency can present with short stature because they have no pubertal growth spurt during adolescence. Therefore, 17 OHD should be considered in the differential diagnosis of patients with delayed puberty and short stature.WOS:0005824946000182-s2.0-8509418282

A Seven Years Old Girl with Klippel-Feil Syndrome, Bilateral Sprengel Deformity, Congenital Unilateral Renal Agenesis and A Heterozygous Mutation M680I(G > C)in The MEFV Gene

WOS: 000419627200015KFS is characterized by fusion of cervical vertebrae that restricts the range of motion of the neck, short neck and low posterior hairline. We presented at a female KFS case within bilateral Sprengel deformity, congenital unilateral renal agenesis and correlation by MEFV gene mutation. Physical examination, routin biochemical evaluation, radiological evaluation of the case were performed and family history was taken. Additionally, chromosomal analysis, complete exom sequencing analysis of MEFV gene and the sequencing analysis of GDF6 gene were conducted. She had short neck, limitation of the movement of head and neck and a low posterior hairline, bilateral sprengel deformity, mild scoliosis and congenital unilateral renal agenesis. Also, she had partial vertebral body fusion. She had cervical kyphosis, the fusiform enlargement of the spinal canal, increased thickness of the cervical spinal cord, cystic enlargement, which reached about 1.5cm long in central of the spinal cord and normal caryotype. She had M680I(G>C) mutation. The patient analysis result was normal for GDF6 gene. To our knowledge, this is the first reported case together with KFS, bilateral Sprengel deformity, congenital unilateral renal agenesis and FMF mutation. Due to neurological deficits can be seen after minor trauma in cases with KFS, she should be careful and avoid from heavy exercise. She had cysts in her liver and spleen and had renal failure her family history. Thus the case has been evaluated for policystic kidney disorder. Additionally, she had MEFV gene mutation, she should be followed for kidney failure during her life for amyloidosis risk

The case of cystic fibrosis presenting with Pseudo-Bartter sydnrome

Psödo-Bartter sendromu (PBS), hipokalemik, hipokloremik metabolik alkaloz ile karakterize klinik bir tablodur. PBS, Bartter sendromunun aksine idrar elektrolit düzeylerinin normal olması ile ayrılır. Huzursuzluk, kilo alamama yakınması ile getirilen iki buçuk aylık kız hastada inatçı hiponatremi, hipokalemi, hipokloremi ve metabolik alkaloz tespit edildi. Yapılan araştırma sonunda hastadaki bulgular Pseudo-bartter sendromuyla uyumlu olarak değerlendirildi. Bu tablonun sık nedenlerinden biri olan kistik fibrozis (KF) düşünülerek iki kez yapılan ter testinin sonucu pozitif olarak saptandı. Gen analizinde G85E/G542X bileşik heterozigot mutasyonlarının gösterilmesi üzerine hasta KF tanısıyla takibe alındı. KF'e bağlı Pseudo-Bartter sendromu, erken sütçocukluğu döneminde hastalığın ilk bulgusu olarak ortaya çıkabilmektedirPseudo-Bartter syndrome (PBS) is a clinical condition characterized by hypokalemic, hypochloremic metabolic alkalosis. PBS is discriminated from the Bartter syndrome with normal urine electrolyte levels. Persistent hyponatremia, hypokalemia, metabolic alkalosis and hypocalcemia was detected in a two and a half month-old girl patient brought with complaints of weight loss.and restlessness. At the end of the researches the findings were evaluated to be consistent with Pseudo-Bartter syndrome. In consideration of cystic fibrosis (CF) which is one of the common causes of this condition, Alındığı tarih: 02.09.2015 two times sweat test was performed which yielded positive results. After the demonstration of G542X/G85E combined heterozygous mutations in the patient were followed with the diagnosis of CF. Pseudo-Bartter's syndrome related CF, may occur as the first sign of the disease in early infancy