Kyriakie Sarafoglou

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BACKGROUND Recent data indicate that the risk of developing a thyroid neoplasm clearly is increased after high-dose, therapeutic radiation therapy during childhood. To better understand the time course, natural history, and histopathology of thyroid lesions that develop after high-dose irradiation, the authors undertook a retrospective study of all(More)
We report a fetus with radiological features of the four established types of short rib-polydactyly syndrome (SRPS). The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity.
Thyroid dysfunction has been reported following single dose and fractionated radiation in the context of bone marrow transplantation (BMT). Limited data are available regarding this complication following hyperfractionated radiation. We undertook a retrospective analysis of thyroid function in 150 patients who received BMT at our institution, and who were(More)
useful addition to the recommendation made in the Institute of Medicine report that journals require sex-specific analyses for publication. However, if the assertion that a coverage requirement is the “best way” to ensure adequately powered tests of men and women implies that a coverage requirement will be more effective than a publication requirement, I(More)
OBJECTIVE To assess the validity of bone age assessment by ultrasonography (US). STUDY DESIGN Wrist US was performed on children (n = 100) undergoing radiographic bone age and compared with bone age estimation by a radiologist in the clinic and by endocrinologists under blinded conditions with Greulich and Pyle (GP) and Tanner and Whitehouse (TW3)(More)
Newborn screening (NBS) identifies the majority of classical [salt-wasting (SW) and simple-virilizing (SV)] cases of congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase (21α-OHase) during the first days of life. Diagnosis of classical CAH is confirmed by follow-up serum 17-hydroxyprogesterone and/or the adrenocorticotropin stimulation test; however,(More)
BACKGROUND Lesch-Nyhan disease is an inborn error of purine metabolism that results from deficiency of the activity of hypoxanthine phosphoribosyltransferase (HPRT). The heterogeneity of clinical phenotypes seen in HPRT deficiency corresponds to an inverse relationship between HPRT enzyme activity and clinical severity. With rare exception, each mutation(More)
Information on the hypothalamic pituitary ovarian axis in congenital disorders of glycosylation (CDG) females is scarce. Varying hormonal profiles and degrees of virilization in CDG females suggest a spectrum of yet unidentified mechanisms affected by impaired N-glycosylation. We describe an ALG6D woman who completed puberty with normal gonadotropins and(More)
BACKGROUND Newborn screening (NBS) for the classic forms of congenital adrenal hyperplasia (CAH) is mandated in all states in the United States. Compared with other NBS disorders, the false-positive rate (FPR) of CAH screening remains high and has not been significantly improved by adjusting 17α-hydroxyprogesterone cutoff values for birth weight and/or(More)