Tbbi Biyokimya Laboratuvar
Tbbi Biyokimya Laboratuvar
Sahin K.,Haseki Egitim ve Arastrma Hastanesi |
Keskin Osmanoglu N.,Haseki Egitim ve Arastrma Hastanesi |
Ozturk Emre H.,Tbbi Biyokimya Laboratuvar |
Kalkan T.,Haseki Egitim ve Arastrma Hastanesi |
Elevli M.,Haseki Egitim ve Arastrma Hastanesi
Haseki Tip Bulteni | Year: 2017
Touraine-Solente-Gole syndrome, also known as pachydermoperiostosis, is transmitted as an autosomal recessive trait. It is characterized by enlargement of fingers and toes, pachyderma, excessive sweating, and pain. In this paper, we present a 9-year-old patient to attract attention to this rare disease. A 9-year-old female patient was brought to our outpatient clinics with sweating and enlargement of hands and feet. She was the fourth child born to consanguineous parents. Her 26-year-old elder sister also had the same symptoms. Her physical examination revealed clubbing of the hands, and thick and sweating fingers. Her test results were unremarkable. Hand x-ray revealed epiphyseal, and metaphyseal thickening of the hands, and periostal hyperosteosis. Pachydermoperiostosis usually begins in childhood, progresses till 20 years of age, then, ceases. Delayed closure of fontanelles, and patent ductus arteriosus may be symptoms of the disease. Patients with deletions and mutations in HPGD (15-hydroxy prostaglandin dehydrogenase) gene (4q33-q34) demonstrate this phenotype. This syndrome is more frequent in females, and mimics rheumatic diseases. Ibuprofen therapy may be used for bone pain. Colchicine is the alternative treatment. In cases of excessive hand and feet sweating associated with clubbed fingers pachydermoperiostosis should be brought to mind. © 2017 by The Medical Bulletin of Haseki Training and Research Hospital The Medical Bulletin of Haseki published by Galenos Yayınevi.
Turkmen S.,Tbbi Biyokimya Laboratuvar |
Yldrmak S.T.,Tbbi Biyokimya Laboratuvar |
Yekrek M.,Tbbi Biyokimya Laboratuvar |
Cimen B.,Tbbi Biyokimya Laboratuvar |
And 4 more authors.
Turkish Journal of Biochemistry | Year: 2014
Objective: Accreditation practices that are considered in the scope of quality in laboratories are rapidly becoming widespread. Measurement uncertainty (u) provides information about the quality and reliability of test results. Among biochemical tests prostate specific antigen (PSA) and thyroid stimulating hormone (TSH) with their low and high reference interval limits have prognostic value for treatment. The aim of this study was to determine the measurement uncertainties of these two analytes by illustrating the reliability of lower and upper reference limits and the differences other than biological changes for treatment follow up. Methods: Calibrator and calibration drift uncertainty, reagent certificate uncertainty, and reproducibility uncertainty were calculated as components of uncertainty. Standard combined uncertainty relative to mean (uc/C analysis) was found by taking square roots of squares of uncertainty components relative to mean. The enlarged uncertainty (U=k×uc) was obtained by multiplying the standard combined uncertainty (uc) with an appropriate k factor (scope factor). Results: The obtained results of measurement uncertainty were lower than limits of total allowable error. Conclusion: The measurement uncertainty results of total PSA, free PSA and TSH were found within the limits of biological variation in accordance with good clinical laboratory practices under GUM (Guide to the Expression of Uncertanty in Measurement) and EUROCAM (A Focus for Analytical Chemistry in Europe). © TurkJBiochem.com.