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Four Cases of X-Linked Hypophosphatemic Rickets, Clinical Description and Genetic Testing
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作者 David Vila-Pérez Sílvia Marín-del-Barrio +3 位作者 Jordi Vila-Cots Jose Antonio Camacho-Díaz Marcos Morey Lourdes Loidi 《Open Journal of Genetics》 2014年第1期40-45,共6页
One of the major causes of congenital hypophosphatemic rickets is the X-linked hypophosphatemic rickets (XHR), due to a defect on PHEX gene. The XHR increases the renal elimination of phosphate, that condition leads a... One of the major causes of congenital hypophosphatemic rickets is the X-linked hypophosphatemic rickets (XHR), due to a defect on PHEX gene. The XHR increases the renal elimination of phosphate, that condition leads a defective mineralization of bones and also affects the growth in children. Clinical diagnosis should be suspected in children with signs of rickets and hypophosphatemia with normal calcium levels. We describe clinical characteristics and genetic results of four patients diagnosed and treated in our Nephrology Section. All patients have a “de novo” XHR as none familiars are affected. Early diagnosis should be suspected before the bone deformities have been submitted and the growth would have been impaired. 展开更多
关键词 rickets X-LINKED Hypophosphatemic rickets XHR PHEX Gene
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Amorphous Calcium Salt Composition Bioavailability Evaluation in Chickens
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作者 D. Babarykin M. Mutalova +5 位作者 G. Smirnova S. Vasiljeva G. Krumina N. Basova V. Agejchenko R. Simanis 《Journal of Biosciences and Medicines》 2019年第2期15-25,共11页
Despite the market saturation with a wide range of calcium preparations in dietary supplements as well as in pharmaceuticals, calcium product safety and efficacy remain an item for further optimization. Bones and teet... Despite the market saturation with a wide range of calcium preparations in dietary supplements as well as in pharmaceuticals, calcium product safety and efficacy remain an item for further optimization. Bones and teeth mainly consist of calcium phosphate, but tablets and capsules are predominantly produced from calcium carbonate. On the other hand, in human food Ca2+ is bound with a lot of anions—carbonates, sulphates, chlorides, phosphates, citrates, oxalates etc. It seems that traditional calcium formulations due its low bioavailability cannot provide all spectra of biological calcium-dependant effects and dietary calcium might be safer and more effective than traditional calcium supplements and medicines. To increase calcium salt efficacy a new formulation of calcium salts has been developed. It is a mixture (water suspension) of amorphous calcium carbonate, citrate, hydrocarbonate, as well as magnesium hydrocarbonate and hydrocitrate as stabilizers. The capacity of a cockerel’s duodenal mucosa to absorb Ca2+ after peroral ingestion of the mentioned composition in vivo was as much as 126% higher in comparison with CaCO3 suspension intake. Vitamin D3 enhanced the amorphous antirachitic activity of calcium salts. The aim of the study was to compare original amorphous calcium salt composition bioavailability with Ca salts most often in food and medicines, as well as to evaluate the antirachitic activity of the mentioned composition in combination with vitamin D3 in chickens. 展开更多
关键词 CALCIUM ABSORPTION AMORPHOUS CALCIUM Experimental rickets CHICKEN
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Vitamin D Status among Infants Attending a Reproductive and Child Health Clinic in Arusha, Tanzania: A Cross-Sectional Study
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作者 Victor Urio Victor Musiime +2 位作者 Thereza Piloya Phillip Kasirye Stephen Swanson 《Open Journal of Pediatrics》 2021年第3期421-437,共17页
<p> <b><span style="font-family:Verdana;">Background: </span></b><span style="font-family:;" "=""><span style="font-family:Verdana;"&... <p> <b><span style="font-family:Verdana;">Background: </span></b><span style="font-family:;" "=""><span style="font-family:Verdana;">Globally there is a high burden of low serum vitamin D deficiency (VDD) with children being acknowledged at risk due to low vitamin D content in both breastmilk and available foods and inadequate cutaneous synthesis of vitamin D. Even in countries with abundant sunshine, vitamin D deficiency (VDD) remains a problem. There is little characterization of the status of vitamin D among infants in East Africa. This study aimed to determine the prevalence and factors associated with vitamin D deficiency among infants attending the Reproductive and Child Health (RCH) Clinic in Arusha, Tanzania. </span><b><span style="font-family:Verdana;">Methods: </span></b><span style="font-family:Verdana;">A cross-sectional study of 304 infants aged 6 weeks to 12 months was conducted at Arusha Lutheran Medical Centre (ALMC). Infants were enrolled during the warm season between November 2018 and January 2019. A pre-coded questionnaire was used to collect data on sociodemographic characteristics of the infant with consent from their caretakers. Physical examination was done for anthropometric measures and signs of rickets. Blood was drawn for assessment of serum 25-hydroxyvitamin D 25(OH)D, calcium, phosphorus and alkaline phosphate. Vitamin D deficiency was defined as 25(OH)D level below 20 ng/ml (<50 nmol/L) and Vitamin D insufficiency defined as a 25(OH)D level 20 - 30 ng/ml (50 - 75 nmol/L). Statistical </span><span><span style="font-family:Verdana;">analysis was performed using STATA 14 version and factors associated with VDD explored with multivariate analysis. </span><b><span style="font-family:Verdana;">Results:</span></b><span style="font-family:Verdana;"> The mean serum 25(OH)D </span></span><span style="font-family:Verdana;">among infants was 34.51 ng/ml (±15.53). Vitamin D deficiency was found in 67/304 (22%) infants and Vitamin D insufficiency in 50 (16.5%) infants. Hypocalcemia was observed in 33 (10.9%) infants and clinical findings of rickets were found in 11 infants (3.6%). Factors independently associated with VDD included age < 6 months (Adjusted Odds Ratio (AOR) 1.56, 95% CI 1.19 - 4.0, p value < 0.026), serum signs of rickets and serum hypocalcemia (p-value < 0.001 and <0.002, respectively). </span><b><span style="font-family:Verdana;">Conclusion and Recommendation: </span></b><span style="font-family:Verdana;">A high prevalence of Vitamin D deficiency (22%) and insufficiency (16.5%) was observed among infants attending RCH Clinic in Arusha, Tanzania. Age < 6 months, a single serum measurement of hypocalcemia and the presence of the clinical sign of rickets were independently associated with VDD. Clinicians should actively assess for VDD and supplement with vitamin D as indicated, especially among infants < 6 months.</span></span> </p> 展开更多
关键词 Vitamin D Deficiency rickets INFANTS RCH Clinic Tanzania
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