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761“…The recent re-emergence of vitamin D deficiency (VDD) and rickets among breastfed infants without adequate sunlight exposure and vitamin D supplementation has been reported worldwide. …”
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762por Huang, Ping, Ke, Gang, Lin, Xinmei, Wang, Quansheng, Lu, Wei, Zeng, Li, Xu, Shiying“…OBJECTIVE: We attempted to understand the status of vitamin (Vit) A, D, and E in children aged 0–6 living in the Tibetan plateau areas of Ganzi prefecture, to provide the basis for relevant government departments to carry out physical examinations of these children and to prevent and cure four key diseases (Infantile diarrhea, nutritional anemia, rickets, and infantile pneumonia). METHODS: Serum retinol and tocopherol levels were detected using high‐performance liquid chromatography (HPLC). …”
Publicado 2022
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763por Mohamed, Fatma F., Chavez, Michael B., de Oliveira, Flavia Amadeu, Narisawa, Sonoko, Farquharson, Colin, Millán, José Luis, Foster, Brian L.“…Genetic mutations in the ALPL gene-encoding TNAP lead to hypophosphatasia (HPP), characterized by low circulating TNAP levels (ALP), rickets in children and/or osteomalacia in adults, and a spectrum of dentoalveolar defects, the most prevalent being lack of acellular cementum leading to premature tooth loss. …”
Publicado 2022
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764“…She had tachycardia, tachypnea, severe pallor, stunting, rickets, and bilateral fine lung crepitations. Peripheral smear and blood indices revealed dimorphic anemia. …”
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765por Kamiya, Yasunari, Matsushita, Masaki, Mishima, Kenichi, Ohkawara, Bisei, Michigami, Toshimi, Imagama, Shiro, Ohno, Kinji, Kitoh, Hiroshi“…X-linked hypophosphatemic rickets (XLH) is characterized by hypo-mineralization of the bone due to hypophosphatemia. …”
Publicado 2022
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766por Unsal, Yagmur, Gozmen, Onur, User, İdil Rana, Hızarcıoglu, Hayriye, Gulhan, Bora, Ekinci, Saniye, Karagoz, Tevfik, Ozon, Z. Alev, Gonc, E. Nazlı“…During 34 months of follow-up, in addition to CS due to MAS, fibrous dysplasia, hypophosphatemic rickets, and peripheral precocious puberty were detected. …”
Publicado 2023
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767“…Moreover, emerging evidence demonstrates that heterozygous and compound heterozygous ENPP1 pathogenic variants inducing ‘Autosomal Recessive Hypophosphatemic Rickets Type 2’ (ARHR2) also place patients at risk for DISH and OPLL, possibly due to the loss of inhibitory plasma pyrophosphate (PP(i)) which suppresses ectopic calcification and enthesis mineralization. …”
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768por Segre, Giulia, Cargnelutti, Cecilia, Bersani, Carlotta, Njogu, Washington, Roberti, Elisa, Campi, Rita, De Vita, Maria Vittoria, Morino, Gianfranco, Canevini, Maria Paola, Bonati, Maurizio“…Significant risk factors are history of low birth weight and Apgar score, presence of neurological disorders, malnutrition and/or rickets, younger age of the child and older age of the mother. …”
Publicado 2023
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769“…Dent’s disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is due to mutations of the chloride/proton antiporter 5, CLC-5; ADHH is associated with activating mutations of the CaSR, which is a G-protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium–phosphate co-transporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia. …”
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770“…Complications such as rickets or osteomalacia may occur. The disease is caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes that are located on chromosome Xp11.22 and Xq25, respectively. …”
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771por Bhadada, Sanjay Kumar, Bhansali, Anil, Das, Sambit, Singh, Ramanbir, Sen, R., Agarwal, A., Mittal, B.R., Nahar, Uma, Dutta, Pinaki, Khandelwal, Niranjan“…Eight patients had endocrinopathies: five had acromegaly, one each had gonadotropin independent precocious puberty (GIPP), hyperthyroidism and hypophosphatemic rickets. One child with GIPP later developed hyperthyroidism. …”
Publicado 2011
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772por Duka, Ykateryna D., Ilchenko, Svetlana I., Kharytonov, Mykola M., Vasylyeva, Tetyana L.“…RESULTS: Impaired growth and rickets-like skeletal deformities were observed in 33% of the children. …”
Publicado 2011
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773“…CONCLUSION: This study demonstrated that approximately 30% of children aged ≤2 years experienced vitamin D insufficiency associated with subclinical rickets. Many children also experienced concurrent IDA. …”
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774por Mutlu, Ajda, Yeşiltepe Mutlu, Gül, Özsu, Elif, Çizmecioğlu, Filiz Mine, Hatun, Şükrü“…Vitamin D status should be assessed also in patients who do not have signs of rickets. Conflict of interest:None declared.…”
Publicado 2011
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775por Crocker, Barbara, Green, Tim J, Barr, Susan I, Beckingham, Bridgid, Bhagat, Radhika, Dabrowska, Beata, Douthwaite, Rachel, Evanson, Carmen, Friesen, Russell, Hydamaka, Kathy, Li, Wangyang, Simmons, Kelly, Tse, Lillian“…BACKGROUND: Vitamin D deficiency during infancy may lead to rickets and possibly other poor health outcomes. The World Health Organization recommends exclusive breastfeeding for the first 6 months. …”
Publicado 2011
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776por Heo, Ju Sun, Choi, Ka Young, Sohn, Se Hyoung, Kim, Curie, Kim, Yoon Joo, Shin, Seung Han, Lee, Jae Myung, Lee, Juyoung, Sohn, Jin A, Lim, Byung Chan, Lee, Jin A, Choi, Chang Won, Kim, Ee-Kyung, Kim, Han-Suk, Kim, Beyong Il, Choi, Jung-Hwan“…At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. …”
Publicado 2012
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777por Salmon, Benjamin, Bardet, Claire, Khaddam, Mayssam, Naji, Jiar, Coyac, Benjamin R., Baroukh, Brigitte, Letourneur, Franck, Lesieur, Julie, Decup, Franck, Le Denmat, Dominique, Nicoletti, Antonino, Poliard, Anne, Rowe, Peter S., Huet, Eric, Vital, Sibylle Opsahl, Linglart, Agnès, McKee, Marc D., Chaussain, Catherine“…Mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X-chromosome) cause X-linked familial hypophosphatemic rickets (XLH), a disorder having severe bone and tooth dentin mineralization defects. …”
Publicado 2013
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778por Bose, Sonali, Breysse, Patrick N, McCormack, Meredith C, Hansel, Nadia N, Rusher, Robert R, Matsui, Elizabeth, Peng, Roger, Curtin-Brosnan, Jean, Diette, Gregory B“…RESULTS: In a predominantly black population of preschool children, the median 25-OH vitamin D level was 28 ng/mL (IQR 21.2-36.9), with 54% of the children below the traditionally sufficient level of 30 ng/mL and 7.4% in the range associated with risk of rickets (< 15 ng/mL). The median time spent outdoors was 3 hours/day (IQR 2–4), and greater time spent outdoors was not associated with higher vitamin D levels. 25-OH vitamin D did not show seasonal variation in our cohort (p = 0.66). …”
Publicado 2013
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779por Al-Haggar, Mohammad, Sakamoto, Osamu, Shaltout, Ali, El-Hawary, Amany, Wahba, Yahya, Abdel-Hadi, Dina“…Two unrelated Egyptian families having suspected cases of FBS were enrolled after taking a written informed consent; both had positive consanguinity, and index cases had evidences of proximal renal tubular defects with hepatomegaly; they were subjected to history taking, signs of rickets as well as anthropometric measurements. Laboratory workup included urinalysis, renal and liver function tests including fasting and postprandial blood sugar; serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile, and detailed blood gas. …”
Publicado 2011
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780por Wu, Zhe“…Vitamin D deficiency may lead to the development of rickets. In our paediatrics department in a major London hospital, we audited the number of babies with low vitamin D levels attending our prolonged jaundice clinic. …”
Publicado 2014
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