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Öğe Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis(WALTER DE GRUYTER GMBH, 2015) Cimbek, Emine Ayca; Sen, Yasar; Yuca, Sevil Ari; Peru, HarunCalcium pyrophosphate dehydrate (CPPD) crystal deposition disease (also known as chondrocalcinosis, CC) is a rare metabolic arthropathy mostly seen in elderly patients. Chondrocalcinosis may be associated with metabolic diseases such as hypomagnesemia when it occurs in young people. We report here a case with hypomagnesemia due to familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) who developed CC during clinical follow-up. To our best knowledge this is the first case of a young patient with CPPD associated with FHHNC.Öğe The effects of omega-3 fatty acids on exercise induced bronchospasm in nonasthmatic obese and non-obese children(WILEY-BLACKWELL, 2015) Ozdemir, Ayse; Okudan, Nilsel; Yuca, Sevil Ari; Belviranli, Muaz; Gokbel, Hakki[Abstract not Available]Öğe Growth Patterns of Children of Same Geographic Background Reared in Different Environments(GALENOS YAYINCILIK, 2014) Yuca, Sevil Ari; Cesur, Yasar; Kurtoglu, Selim; Mazicioglu, Mustafa Mumtaz; Cimbek, Emine AycaObjective: Growth charts are essential tools used to assess children's health status. The aim of the present study was to determine the effect of environmental factors on the growth of children of a common geographic background. We constructed growth charts for children living in the East of Turkey and compared them with those for Turkish children living in other regions or countries. Methods: Growth data were obtained from 6 917 school children living in Eastern Turkey. The median values on smoothed percentile curves for the study subjects were compared with those for Turkish children living in the West of Turkey, in Western Europe and in Germany. Results: Children living in Turkey were lighter than their European peers at early ages. Weight curves of children living in the West of Turkey reached those of their European peers, after 11 years of age in boys and after 12 years of age in girls. At all ages, girls and boys in our region had the lowest weight values. Between 7 and 11 years of age, the median height in boys and girls were similar in the West of Turkey and in Europe. At older ages, median height was higher in Turkey. Girls and boys living in Eastern Turkey were the shortest children until 16 years of age; after that age, their height was similar to their peers. Conclusions: Weight may interact with environmental factors, but genetic potential appears to be the most important factor determining height at 17 years of age. Growth patterns of children should be evaluated using specific reference values for specific regions.Öğe Kocher-Debre-Semelaigne syndrome with rhabdomyolysis and increased creatinine(WALTER DE GRUYTER GMBH, 2015) Cimbek, Emine Ayca; Sen, Yasar; Yuca, Sevil Ari; Cam, Demet; Gur, Celal; Peru, HarunAssociation of Kocher-Debre-Semelaigne syndrome-a myopathy of hypothyroidism in childhood characterized by muscular hypertrophy, with rhabdomyolysis is very rare. We present a case of Kocher-Debre-Semelaigne syndrome with rhabdomyolysis secondary to Hashimoto's thyroiditis. He had muscular symptoms simulating poly/dermatomyositis, massively elevated creatine kinase (CK) levels and high creatinine levels. All of the findings reversed on treatment of hypothyroidism. The response to the therapy strongly suggested that Kocher-Debre-Semelaigne (KDS) syndrome was the underlying etiology. Serum thyroid- stimulating hormone levels should be routinely determined in all patients with muscular symptoms and/or elevation of CK and creatinine, keeping KDS syndrome in mind.Öğe Marine-Lenhart syndrome in a young girl(WALTER DE GRUYTER GMBH, 2014) Sen, Yasar; Cimbek, Emine Ayca; Yuca, Sevil Ari; Gedik, Gonca Kara; Sari, OktayGraves' disease is the most common reason of hyperthyroidism in children. Graves' disease with accompanying functioning nodules is defined as Marine-Lenhart syndrome. This syndrome has not been described in children before. Here, a 15-year-old girl with Graves' disease and a coexisting cold nodule is presented. A thyroid scan showed diffuse uptake of Tc-99m pertechnatate in both lobes and decreased uptake in accordance with the left lobe nodule. The nodule was histologically diagnosed as benign. The patient was diagnosed with type 1 diabetes mellitus and polyglandular autoimmune syndrome during clinical follow-up. The differential diagnoses of Graves' disease with coexisting nodules should include the Marine-Lenhart syndrome. Treatment options should be determined taking this rare condition into account.Öğe Vitamin D-Dependent Rickets: Eight Cases(MODESTUM LTD, 2016) Cesur, Yasar; Yuca, Sevil Ari; Bektas, Selcuk; Yilmaz, Cahide; Dulger, Haluk; Temel, HayrettinObjective: Vitamin D is essential for bone development and health, and deficiency resulting in rickets and skeletal deformities is seen mainly during rapid growth. Hereditary vitamin D dependent rickets type I and type II rickets is a very rare form of rickets, characterized by 1-alpha-hydroxylase deficiency or end-organ resistance to vitamin D. We aimed to investigate, clinical and laboratory characteristics of eight cases with Vitamin D-dependent rickets (VDRR). Method: The mean age of patients during diagnosis was 2.6 years. Excluding one patient, others were males (87.5%). Results: Mean laboratory values during referral was calcium 7.5 +/- 1,5 mg/dl, phosphorus 4 +/- 1.2 mg/dl, alkaline phosphatase (ALP) 1679 +/- 641 U/L and parathyroid hormone (PTH) 524 +/- 498 pg/ml. Patients received 1.2 mu g/kg/day calcitriol. During follow-ups serum ALP and PTH values of patients turned to normal levels. Conclusion: In rickets, cases with persistent increased serum ALP and PTH levels it will be appropriate to investigate serum 25 (OH) D levels in cases diagnosed with vitamin D-dependent rickets even though hypocalcaemia is absent. Administration of adequate doses of calcitriol in some cases is able to clinical and laboratory values return to normal.
