Weismann-Netter-Stuhl Syndrome:A family report

Weismann-Netter-Stuhl (WNS) syndrome is a rare skeletal anomaly that affects the diaphyseal part of both the tibiae and fibulae with posterior cortical thickening and anteroposterior bowing. This anomaly is usually bilateral and symmetrical. The patients are generally of short stature. In some cases, a family history suggesting genetic transmission of a mutation with an unknown locus has been reported. In this paper we present an infant with WNS syndrome with bilateral involvement of the femur. Similar clinical findings were defined in three other family members

Atherogenic Lipid Profile and Systolic Blood Pressure are Associated with Carotid Artery Intima-media Thickness in Children with Turner Syndrome

Objective: Women with Turner syndrome (TS) have greater carotid artery intima-media thickness (cIMT) known to be a risk factor for atherosclerosis in adults. To determine whether there are risk factors for atherosclerosis in children with TS, we compared cIMT, anthropometric and metabolic parameters between children with TS and healthy controls

The relationship between serum ghrelin levels and hair zinc concentrations in children

Background: Zinc (Zn) plays a central role in the activation of numerous enzyme systems that synthesize and degrade bioactive peptides. Some of these bioactive peptides, also called neuropeptides, are involved in the regulation of food intake

Al-Awadi/Raas-Rothschild Syndrome in a Newborn with Additional Anomalies

Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14th week of gestation. This report emphasizes the importance of recognizing severe pelvic and limb deficiencies in newborns with AARR syndrome and differentiating the syndrome from other multiple malformation syndromes. Fetal ultrasonography at 15th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus

Association Between Apolipoprotein E Polymorphism and Subclinic Atherosclerosis in Patients with Type 1 Diabetes Mellitus

Objective The most important cause of morbidity and mortality in type 1 diabetes mellitus (DM) is atherosclerosis. Apolipoprotein E (Apo E) polymorphism is accused of being the genetic risk factor for atherosclerosis. The aim of the present study was to determine which Apo E polymorphism was related to atherosclerosis in patients with type 1 DM

Evaluation of Electrocardiographic Markers for the Risk of Cardiac Arrhythmia in Children with Obesity

Aim:This study was conducted to examine the electrocardiographic markers used in the risk assessment of cardiac arrhythmia in children with obesity.Materials and Methods:In this prospective study, 60 children aged 3-17 years with exogenous obesity and 60 age and sex-matched healthy controls were included. Demographic data, assessment of atrial and ventricular arrhythmia risk markers in electrocardiography, and standard echocardiography measurements were performed. Values of p<0.05 were considered significant.Results:The mean ages of the study and control groups were 11.51±3.48 years and 10.74±3.72 years, respectively. Both groups had 30 males and 30 females. The study group had significantly higher average mean body mass index (BMI) compared to the control group. In electrocardiographic examinations, P-wave dispersion, QT dispersion (QTd), corrected QTd (QTcd), Tpeak-Tend (Tp-e), Tp-e/QT, and Tp-e/QTc values were significantly higher in the obese group compared to the control group. In echocardiographic examinations, the dimensions of the heart chambers and vascular structure and wall thicknesses were found to be significantly higher in those children with obesity.Conclusion:The electrocardiographic risk markers used to predict cardiac arrhythmias were found to be increased in those children with obesity. This may suggest that increased body weight and adiposity may have unfavorable effects on the cardiac conduction system

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

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

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

Akut romatizmal ateş etyopatogenezinde serbest radikallerin rolü

Bu çalışmada çocukluk çağında Akut Romatizmal Ateş (ARA) etyopatogenezinde serbest oksijen radikallerinin rolü ve klinik bulgularla ilişkileri araştırılmıştır. Bu çalışmayı Selçuk Üniversitesi Tıp Fakültesi Pediatrik Kardioloji Ünitesinde 1996 ile 1997 yıllan arasında yaptık. 5 ile 15 yaşlarında 23 hasta ve 25 sağlam çocuk araştırmaya dahil edildi. Hastaların 17'sinde kardit gözlendi. ROM düzeyleri tanımında ve daha sonra da periyodik olarak belirlendi. Serbest oksijen radikalleri ve ürünleri dROM kiti (d-ROMs test, Diacron s.r.I. Diagnostics Division, Via Zircone n.8-58100 Grosseto-İtaly) kullanılarak ve kolorimetrik olarak ölçüldü. Tanı anındaki plazma ROM düzeyi kontrol grubundaki ile karşılaştırıldığında istatistiksel olarak anlamlı yüksek bulundu (P<0.05). 15, 30 ve 90. günlerde plazma ROM düzeylerinin giderek azaldığını gözledik. Karditi olmayanlarla kıyaslandığında karditli hastaların plazma ROM düzeyleri istatistik olarak anlamlı bir farklılık göstermiyordu. Anlamlı olmamakla birlikte, 90. günde plazma ROM düzeyi hâlâ yüksekti. Biz bu çalışmada serbest oksijen radikallerinin ARA etyopatogenezinde önemli bir rol oynadıkları sonucuna vardık.In this study the role of oxygen free radicals in the etiopathogenesis of Acute Rheumatic Fever (ARF) in childhood and its relationship between the clinical findings were investigated. We conducted this study in the Department of Pediatric Cardiology in Selçuk University, Faculty of Medicine, from 1996 to 1997. Twenty three patients with an age range of 5 to 15 years and 25 healthy children were included. Carditis was observed in 17 of the patients. The ROM levels were determined at the time of diagnosis and periodically after than. Oxygen free radicals and its products were measured colorimetrically using dROM's kit (d-ROMs test, Diacron s.r.I. Diagnostics Division, Via Zircone n.8-58100 Grosseto-İtaly). The plasma ROM level at the time of diagnosis compared to that of control group was found statistically significant (PO.05). We observed a progressive decrease in plasma ROM levels at days 15, 30 and 90. The patients with carditis didn't have statistically different plasma ROM levels compared to the patients without carditis. The plasma ROM level at day 90 was still higher, though unsignificant, than that of the control group. In this study, we conclude that the oxygen free radicals may play an important role in the etiopathogenesis of ARF