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

Development and Quality Characteristics of Sugar and Fat Free Muffins Utilising Stevia and Chia Mucilage

Cake is a popular bakery product consumed by almost everyone due to its low economic cost and shelflife, however, it is recognised unhealthy because of high fat and sugar contents. The aim of this study was to evaluate physicochemical and sensory properties of muffins baked using 100% of sugar and fat replacement as stevia sweetener (rebaudioside A and erythritol) and chia seed mucilage, respectively. The combination of sweetener with chia gel (SCC) had the highest moisture content, while the replacement of fat in muffin (CC) revealed similarity to the control in lightness and redness values. There was also no significant difference in terms of firmness when only the sweetener was replaced (SC). While the control muffin obtained the highest overall acceptability score, the lowest score was observed in CC. Thus, muffins with reduced fat and sugar contents can benefit the consumer in terms of health, but further optimisation of formulations for both replacers is needed for better sensory acceptance

Persistent elevated serum levels of intact parathyroid hormone after reoperatin for primary hyperparathyroidism and after pamidronate therapy

PubMed ID: 14696811Primary hyperparathyroidism is a life-threatening rare disorder. It is seen as a result of neonatal primary hyperparathyroidism, familial hypocalciuric hypercalcemia, increased vitamin D levels and inactivation of calcium sensing receptor mutations. The clinical findings are hypotonia, bone demineralization, hypercalcemia and parathyroid hyperplasia. We present a six-month-old female patient, the first child of nonconsanguineous parents, who was referred for the investigation of failure to thrive, vomiting, constipation, fever, abdominal distention and hypotonia. Physical examination revealed weight under 3rd percentile, height 3rd-10th percentile, decreased subcutaneous fat, and distention of the abdomen. In neurological examination, hypotonia, motor-mental retardation, and active deep tendon reflexes were found. The biochemical values at the time of admission revealed primary hperparathyroidism. Since hypercalcemia did not respond to calcitonin therapy and due to the mortality of hypercalcemia, parathyroidectomy was performed. Because hyperparathyroidism and hypercalcemia continued, angiography was done which revealed increased parathyroid hormone levels in the periphery of the innominate vein. Exploratory surgery followed, but hyperparathyroidism and hypercalcemia persisted after all of these procedures. Calcium-sensing receptor mutations and supernumerary gland were considered. Because hypercalcemia persisted, pamidronate therapy was initiated on a monthly basis

Fracture history in osteoporosis: Risk factors and its effect on quality of life

Background: Fractures are one of the main outcomes in osteoporosis and have an important effect on the general health status. Aims: The purpose of this study was to determine the effect of major fracture history on quality of life. We also investigated the important risk factors and their effect on bone mineral density and fracture history. Study Design: Cross-sectional study. Methods: We recruited 105 patients who were admitted to an osteoporosis outpatient clinic. Medical history, family history, calcium intake, physical activity level and biochemical tests were evaluated. Lumbar spine and femur neck bone mineral density were measured. The Qualeffo- 41 questionnaire was also used for evaluating quality of life. Results: The average age of the 105 patients included in the study was 56.04±13.73 and 89% of them were post-menopausal women. The average body mass index was 26.84±5.99, which means that the women were overweight. Also, 48.5% of the patients were diagnosed with osteoporosis and 51.5% of them were diagnosed as low bone density. A total of 34 patients had a fracture history with minor trauma and some of the patients had more than one fracture (12 ankle and foot, 10 forearm, 9 vertebral, 4 hand, 3 hip, 2 rib, 1 tibial). When the patients with and without fracture history were compared, the mean Qualeffo-41 score in patients with fracture was 43.85±2.57 and in the non-fracture group was 36.27±2.01. Conclusion: Forearm, ankle and foot fractures can be commonly seen in osteoporosis patients with fracture history. We suggest that it is important to recognise osteoporosis prior to first fracture and disease-specific quality of life assessment should be done