Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Salvador Castells"'
Autor:
Dawn Hagerty, Vatcharapan Umpaichitra, Swashti Agarwal, Jamila Cooper, Salvador Castells, Aditi Khokhar, Laura Dunkley, Albara Marwa, Sheila Perez-Colon, Vivian L. Chin
Publikováno v:
Journal of the National Medical Association. 111:37-45
Objective With the rising incidence of Type 1 diabetes (T1DM), it is important to recognize deficiencies in care and areas of improvement to provide better access to resources and education for T1DM patients. The objective of this study was to recogn
Publikováno v:
Clinical Pediatrics. 55:404-414
Autor:
Keiko Aso, Ilaria Sani, Raoul C.M. Hennekam, Jan M. Wit, Silvia Einaudi, Yinya Li, Ulla Sankilampi, Yukiko Katagiri, Anita C. S. Hokken-Koelega, Patrizia Bruzzi, Malgorzata Wasniewska, Chengchen Zhang, Francesco Massart, Anders Kämpe, Satz Mengensatzproduktion, Régine P.M. Steegers-Theunissen, Assunta Albanese, Werner Druck Medien Ag, Sinian Pan, Mario Miccoli, Riikka E. Mäkitie, Paula van Dommelen, Mari Satoh, Ilse Hellinga, Frans B. Plötz, Min Zhang, Sheila Perez-Colon, Gerdine A Kamp, Daniela Briceno, Donald J. McMahon, Kristen M. Williams, Leo Dunkel, Shipra Bansal, Antti Saari, Outi Mäkitie, Silvano Bertelloni, Sharon E. Oberfield, Giampiero I. Baroncelli, Laura M Breij, Susanne E. Stalman, Vatcharapan Umpaichitra, Salvador Castells, Aviva B. Sopher
Publikováno v:
Hormone Research in Paediatrics. 84:I-V
Publikováno v:
Hormone research in paediatrics. 84(6)
Background: X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency (PAI) in children due to mutations in NR0B1/DAX1 (nuclear receptor subfamily 0, group B, member 1/dosage-sensitive sex reversal-adrenal hypoplasia cong
Publikováno v:
Pediatric Research. 58:483-487
Increased plasminogen activator inhibitor-1 (PAI-1) and decreased tissue-plasminogen activator (t-PA) activities lead to impaired fibrinolysis, which is critical for cardiovascular disease. We studied these hemostatic factors at fasting state and aft
Publikováno v:
Clinical Dysmorphology. 11:53-56
Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. Radiological findings include a conca
Publikováno v:
Clinical Pediatrics. 40:441-445
We describe a patient with leukemia in remission for 7 years who developed growth hormone (GH) deficiency and was treated with recombinant human growth hormone (rhGH). We compare her growth with that of patients from the National Cooperative Growth S
Publikováno v:
Clinical Pediatrics. 40:305-312
Hypocalcemia can be devastating if unrecognized. Neuromuscular dysfunction occurs in severe cases. A review and an update on the topic may assist general pediatricians. The authors provide a general overview of pathogenesis and management of hypocalc
Publikováno v:
American Journal of Medical Genetics. 61:111-116
A substitution of arginine for glycine at amino acid position 154 of the alpha 1(I) collagen chain was found in a father and his three children. The phenotype of the patients includes manifestations of types I and III/IV osteogenesis imperfecta, but
Autor:
Gerard Tromp, Jiapiao Zhuang, Darwin J. Prockop, Helena Kuivaniemi, Salvador Castells, Merete Bugge
Publikováno v:
Human Mutation. 7:89-99
More than 150 mutations in the genes for type I procollagen have been found in unrelated patients with osteogenesis imperfecta (OI), but mutations have been difficult to define in many patients with the mildest forms of the disease. Here, we have use