Search Results - "Scommegna, S"

Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: response to 12-month triiodothyroacetic acid (TRIAC) therapy by Torre, P, Bertoli, M, Di Giovanni, S, Scommegna, S, Conte, C, Novelli, G, Cianfarani, S

“…To determine the endocrine, neuropsychological and genetic features of a child with resistance to thyroid hormone (RTH), and his response to long-term…”
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Molecular Characterization of 6 Unrelated Italian Patients With 5α‐Reductase Type 2 Deficiency by Baldinotti, F., Majore, S., Fogli, A., Marrocco, G., Ghirri, P., Vuerich, M., Tumini, S., Boscherini, B., Vetri, M., Scommegna, S., Rinaldi, R., Simi, P., Grammatico, P.

“…Steroid 5α‐reductase (5αR) deficiency (OMIM number #264600) is a rare 46,XY disorder of sex differentiation caused by mutations in the 5αR type 2 gene (SRD5A2)…”
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Bone mineral density at diagnosis and following successful treatment of pediatric Cushing's disease by Scommegna, S, Greening, J P, Storr, H L, Davies, K M, Shaw, N J, Monson, J P, Grossman, A B, Savage, M O

“…Bone mineral density (BMD) is frequently reduced in children and adolescents with Cushing's disease (CD), but there is little follow-up data after cure. BMD…”
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An overview of flash architectural developments by Campardo, G., Scotti, M., Scommegna, S., Pollara, S., Silvagni, A.

“…This paper presents a survey of the principal architectures and blocks building up a flash memory, describing how these blocks are designed and how their…”
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Growth in disorders of adrenal hyperfunction by Savage, M O, Scommegna, S, Carroll, P V, Ho, J T F, Monson, J P, Besser, G M, Grossman, A B

“…Growth is disturbed by adrenal hypersecretion of androgens or cortisol. Androgen excess in virilizing adrenal tumours causes advanced growth and bone age. In 9…”
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Alloimmune neonatal neutropenia treated with rHuG-CSF by Ruggiero, A, Pesaresi, A, Scommegna, S, Giordano, P, Mastrangelo, S, Riccardi, R

“…Infants with alloimmune neonatal neutropenia (ANN) may be at risk of life-threatening infection. Various modalities of treatment have been attempted but with…”
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Neonatal identification of pituitary aplasia: a life-saving diagnosis. Review of five cases by Scommegna, Salvatore, Galeazzi, Daniela, Picone, Simonetta, Farinelli, Edoardo, Agostino, Rocco, Bozzao, Alessandro, Boscherini, Brunetto, Cianfarani, Stefano

“…Neonatal onset hypopituitarism is a life-threatening, potentially treatable endocrine disease. A possible cause is congenital absence of the anterior pituitary…”
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Diagnosis of Prader-Willi syndrome. Considerations on a case of erroneous diagnosis by Scommegna, S, Zollino, M, Paolone, G

“…Prader-Willi syndrome is a genetic disease, which is clinically characterized by neonatal hypotonia, feeding problems in the first year of life, excessive…”
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Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency by Baldinotti, F, Majore, S, Fogli, A, Marrocco, G, Ghirri, P, Vuerich, M, Tumini, S, Boscherini, B, Vetri, M, Scommegna, S, Rinaldi, R, Simi, P, Grammatico, P

“…Steroid 5alpha-reductase (5alphaR) deficiency (OMIM number #264600) is a rare 46,XY disorder of sex differentiation caused by mutations in the 5alphaR type 2…”
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Rhabdoid tumor of the kidney: a rare malignant neoplasm of infancy. A case report and review of the literature by Scommegna, S, Mastrangelo, S, Lazzareschi, I, Ruggiero, A

“…Rhabdoid tumor of the kidney (RTK) is a quite rare malignant neoplasm of early childhood. It has a very unfavourable prognosis, since it tends to give early…”
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Intracranial hemorrhage in Schoenlein-Henoch syndrome by Chiaretti, A, Scommegna, S, Castorina, M, Piastra, M, Tortorolo, L, Villani, A, Polidori, G

“…Henoch-Schoenlein syndrome (HSS) is one of the most common vasculitis in childhood. It is characterized by non-thrombocytopenic purpura, arthritis, abdominal…”
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Molecular Characterization of 6 Unrelated Italian Patients With 5{alpha}-Reductase Type 2 Deficiency by Baldinotti, F, Majore, S, Fogli, A, Marrocco, G, Ghirri, P, Vuerich, M, Tumini, S, Boscherini, B, Vetri, M, Scommegna, S, Rinaldi, R, Simi, P, Grammatico, P

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Haemophilus influenzae disease in childhood. Comment about case reports of meningitis by Ranno, O, Scommegna, S, Valentini, P, Segni, G

“…The authors describe a series of Haemophilus influenzae meningitis in childhood, obtained with a retrospective analysis of the cases of bacterial meningitis…”
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