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781por Thiering, E., Brüske, I., Kratzsch, J., Hofbauer, L. C., Berdel, D., von Berg, A., Lehmann, I., Hoffmann, B., Bauer, C. P., Koletzko, S., Heinrich, J.“…Severe vitamin D deficiency is known to cause rickets, however epidemiological studies and RCTs did not reveal conclusive associations for other parameters of bone health. …”
Publicado 2015
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782por Murali, Sathish K., Andrukhova, Olena, Clinkenbeard, Erica L., White, Kenneth E., Erben, Reinhold G.“…X-linked hypophosphatemia (XLH) is the most frequent form of inherited rickets in humans caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX). …”
Publicado 2016
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783“…Patients were divided into four groups: 13 with post-traumatic malunions, 18 with tibia vara, six with rickets, and 14 with miscellaneous deformities. Correction goal was determined as correction of deformities to population-average parameters of the lower limbs in frontal and sagittal views and normal mechanical axis deviation. …”
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784por Zhang, Qian, Doucet, Michele, Tomlinson, Ryan E, Han, Xiaobin, Quarles, L Darryl, Collins, Michael T, Clemens, Thomas L“…Recent studies have implicated the hypoxia-inducible factor-1α (HIF-1α) in other phosphate wasting disorders caused by elevated FGF23, including X-linked hypophosphatemic rickets and autosomal dominant hypophosphatemia. Here we provide evidence that HIF-1α mediates aberrant FGF23 in TIO by transcriptionally activating its promoter. …”
Publicado 2016
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785por Chiappini, Elena, Vierucci, Francesco, Ghetti, Francesca, de Martino, Maurizio, Galli, Luisa“…Median 25(OH)D level was 22.0 ng/mL (IQR:15.0–30.0 ng/mL); 710/962 (73.8%) children showed hypovitaminosis D (<30 ng/mL), 388/962 (40.3%) had vitamin D deficiency (<20 ng/dL), and 92/962 (9.6%) had severe vitamin D deficiency (<10ng/mL). No case of clinical rickets was observed. Hypovitaminosis D was particularly frequent (>90%) in children adopted from Ethiopia, Peru, India, Bulgaria and Lithuania. …”
Publicado 2016
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786“…The Enpp1(asj) mutant mouse provides a new animal model for studying tympanosclerotic otitis and otitis media with effusion, and also provides a specific model for the hearing loss recently reported to be associated with human ENPP1 mutations causing generalized arterial calcification of infancy and hypophosphatemic rickets.…”
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787por Sambandam, Yuvaraj, Reddy, Sakamuri V., Mulligan, Jennifer L., Voelkel-Johnson, Christina, Wagner, Carol L.“…Vitamin D deficient mothers’ infants are prone to rickets. While tumor necrosis factor-related apoptosis inducing ligand (TRAIL) has been implicated in cellular growth/apoptosis, immune cell function and bone-resorbing osteoclast formation, the expression of TRAIL in human milk as a function of vitamin D status in mothers remains unknown. …”
Publicado 2017
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788por Pronicka, Ewa, Ciara, Elżbieta, Halat, Paulina, Janiec, Agnieszka, Wójcik, Marek, Rowińska, Elżbieta, Rokicki, Dariusz, Płudowski, Paweł, Wojciechowska, Ewa, Wierzbicka, Aldona, Książyk, Janusz B., Jacoszek, Agnieszka, Konrad, Martin, Schlingmann, Karl P., Litwin, Mieczysław“…The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. …”
Publicado 2017
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789“…BACKGROUND: Nutritional rickets is a growing global public health concern despite existing prevention programmes and health policies. …”
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790“…PTH‐dependent hypercalcemia is usually caused by parathyroid tumors, which may give rise to primary hyperparathyroidism (PHPT) or tertiary hyperparathyroidism, which usually arises in association with chronic renal failure and in the treatment of hypophosphatemic rickets. Acquired causes of PTH‐dependent hypercalcemia in neonates include maternal hypocalcemia and extracorporeal membrane oxygenation. …”
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791por Utriainen, Pauliina, Valta, Helena, Björnsdottir, Sigridur, Mäkitie, Outi, Horemuzova, Eva“…Mild hypophosphatemia was common (11/16), but none had signs of hypophosphatemic rickets. Craniofacial bone involvement was found in 12 patients (75%); in 5 of these, skeletal lesions were limited to craniofacial area. …”
Publicado 2018
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792“…A tight regulation of Pi is critical, since hyperphosphataemia is associated with increased cardiovascular morbidity in chronic kidney disease (CKD) and hypophosphataemia with rickets and growth retardation. This short review considers the control of Pi balance by vitamin D, PTH and Pi itself, with an emphasis on the insights gained from human genetic disorders and genetically modified mouse models.…”
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793“…Vitamin D deficiency may lead to osteoporosis (osteomalacia in adults and rickets in children) along with calcium deficiency. …”
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794por Beck-Nielsen, Signe Sparre, Mughal, Zulf, Haffner, Dieter, Nilsson, Ola, Levtchenko, Elena, Ariceta, Gema, de Lucas Collantes, Carmen, Schnabel, Dirk, Jandhyala, Ravi, Mäkitie, Outi“…BACKGROUND: X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction. …”
Publicado 2019
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795por Cuomo, Alessandro, Maina, Giuseppe, Bolognesi, Simone, Rosso, Gianluca, Beccarini Crescenzi, Bruno, Zanobini, Francesco, Goracci, Arianna, Facchi, Edvige, Favaretto, Ettore, Baldini, Irene, Santucci, Aurora, Fagiolini, Andrea“…VDID has been correlated to a host of adverse conditions, including rickets, osteoporosis, osteomalacia, muscle diseases, depression, cognitive dysfunction, and even certain cancers. …”
Publicado 2019
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796por Phillips, Dawn, Tomazos, Ioannis C, Moseley, Scott, L'Italien, Gil, Gomes da Silva, Hugo, Lerma Lara, Sergio“…In children, the 6MWT correlated significantly with scores on measures of skeletal disease, which included the Radiographic Global Impression of Change scale (r = 0.50; p < 0.0001) and the Rickets Severity Scale (r = −0.78; p < 0.0001), such that distance walked increased as the severity of skeletal disease decreased. …”
Publicado 2019
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797por Schönauer, Ria, Petzold, Friederike, Lucinescu, Wilhelmina, Seidel, Anna, Müller, Luise, Neuber, Steffen, Bergmann, Carsten, Sayer, John A., Werner, Andreas, Halbritter, Jan“…Loss-of-function mutations of SLC34A3 represent an established cause of a distinct renal phosphate wasting disorder termed hereditary hypophosphatemic rickets with hypercalciuria (HHRH). SLC34A3 encodes the renal phosphate transporter NaPi2c expressed at the apical brush border of proximal renal tubules. …”
Publicado 2019
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798“…Severe vitamin D deficiency may cause rickets. While this point is not disputed, the use of vitamin D in the elderly to prevent fractures has been challenged recently by a meta‐analysis of 81 RCTs, suggesting that the effects of vitamin D were trivial. …”
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799por Hanazaki, Ai, Ikuta, Kayo, Sasaki, Shohei, Sasaki, Sumire, Koike, Megumi, Tanifuji, Kazuya, Arima, Yuki, Kaneko, Ichiro, Shiozaki, Yuji, Tatsumi, Sawako, Hasegawa, Tomoka, Amizuka, Norio, Miyamoto, Ken‐ichi, Segawa, Hiroko“…Mutation of human NPT2c causes hereditary hypophosphatemic rickets with hypercalciuria. Mice with Npt2c knockout, however, exhibit normal Pi metabolism. …”
Publicado 2020
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800por Hohenfellner, Katharina, Rauch, Frank, Ariceta, Gema, Awan, Atif, Bacchetta, Justine, Bergmann, Carsten, Bechtold, Susanne, Cassidy, Noelle, Deschenes, Geroges, Elenberg, Ewa, Gahl, William A., Greil, Oliver, Harms, Erik, Herzig, Nadine, Hoppe, Bernd, Koeppl, Christian, Lewis, Malcolm A., Levtchenko, Elena, Nesterova, Galina, Santos, Fernando, Schlingmann, Karl P., Servais, Aude, Soliman, Neveen A., Steidle, Guenther, Sweeney, Clodagh, Treikauskas, Ulrike, Topaloglu, Rezan, Tsygin, Alexey, Veys, Koenraad, v. Vigier, Rodo, Zustin, Jozef, Haffner, Dieter“…Manifestations of CMBD include hypophosphatemic rickets in infancy, and renal osteodystrophy associated with CKD resulting in bone deformities, osteomalacia, osteoporosis, fractures, and short stature. …”
Publicado 2019
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