Turner syndrome and associated problems in turkish children: A multicenter study

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 stenosi) 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 lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Lipoid proteinosis: Urbach-Wiethe disease

PubMedID: 8241657Lipoid proteinosis (Urbach-Wicthe disease) is a rare autosomal recessive disorder in which hyalinized material is deposited in the skin, mucous membranes and brain. Laryngeal changes resulting in hoarseness may be present at birth or in early infancy, often being the first sign of the discase. A typical case is presented. Copyright © 1993, Wiley Blackwell. All rights reserve

LIPOID PROTEINOSIS - URBACH-WIETHE DISEASE

WOS: A1993MA60200024PubMed ID: 8241657Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder in which hyalinized material is deposited in the skin, mucous membranes and brain. Laryngeal changes resulting in hoarseness may be present at birth or in early infancy, often being the first sign of the disease. A typical case is presented

The follow-up results of insulin pump use in Turkish children with type I diabetes mellitus

Purpose: Although its use is increasing in children, there are no data about pump use in Turkish children with diabetes. The aim of this study was to investigate the outcome measures of insulin pump use in diabetic Turkish children. Materials and Methods: Ten children (age; 14.7±2.6 years, pump therapy duration; 3-24 months) were prospectively studied. Main outcome measures were compared with those of the 12 months prior to pump therapy. Results: Although statistically insignificant, HbA1c tended to be lower compared to the pre-pump period. Body mass index Z scores remained similar (0.45±0.76 vs. 0.54±0.53 kg/m2, p>0.05). Insulin doses decreased (1.1±0.2 vs. 0.9±0.1 U/kg/day, p0.05). Conclusion: The consistency of the improvements in main outcome measures and their maintenance over time in our study suggest that pump therapy is safe and effective in diabetic Turkish children

EFFECTS OF INDOOR ENVIRONMENTAL-FACTORS ON RESPIRATORY SYSTEMS OF CHILDREN

WOS: A1994NL79800012PubMed ID: 8015025Effects of indoor environmental factors on children's respiratory system and pulmonary function tests were investigated in this study. A total of 617 primary school children aged between 9-12 years were included. A standard questionnaire, which includes questions about respiratory symptoms and illness, indoor environmental determinants, family history of respiratory diseases, and smoking habits of the parents, was sent to homes of all children and information was obtained from parents. Children with a family history of asthma, bronchitis, or other chest troubles suffered morning and day/night coughs, shortness of breath, wheezing and asthma, bronchitis, or pneumonia more frequently. Children whose mothers smoked complained of blocked-runny nose and sinusitis more frequently. Pulmonary function levels were diminished in passive smokers and in children whose houses were heated by a wood-burning stove. As a result, passive smoking, using a wood-burning stove for heating, and family history of respiratory diseases are to be considered risk factors for the respiratory system

A new case of hairy elbows syndrome (hypertrichosis cubiti)

A new case of hairy elbows syndrome (hypertrichosiscubii): Hairy Elbows Syndrome (Hypertrichosis Cubiti; OMIM# 139600) is a rare syndrome, and characterized by the presence of long vellus hair localized on the extensor surfaces of the distal third of the arms and proximal third of the forearm bilaterally. Occasionally hypertrichosis of other body regions may accompany hairy elbows. About half of the reported patients have short stature. Aside from short stature other relatively rare abnormalities related with this syndrome were also described. Most of the reported cases were sporadic, but autosomal dominant as well as autosomal recessive inheritance patterns have also been postulated. In this report, we present a girl with Hairy Elbows syndrome who has both characteristic and uncommon findings of the syndrome. She has excessive hair on her elbows, along with short stature, microcephaly, joint hyperlaxity, thin-long-webbed neck, dysmorphic facial features and mental retardation

Cutaneous anthrax

PubMedID: 2124398[No abstract available