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https://www.readbyqxmd.com/read/29027817/oral-supplementation-of-parturient-mothers-with-vitamin-d-and-its-effect-on-25ohd-status-of-exclusively-breastfed-infants-at-6-months-of-age-a-double-blind-randomized-placebo-controlled-trial
#1
Prasanna Naik, M M A Faridi, Prerna Batra, S V Madhu
BACKGROUND: Exclusively breastfed infants are at increased risk of vitamin D deficiency and many lactating mothers have been found deficient in 25OHD stores. OBJECTIVE: To compare serum vitamin D levels in exclusively breastfed infants at 6 months of age with or without oral supplementation of 600,000 IU of vitamin D3 to mothers in early postpartum period. METHODS: Exclusively breastfeeding term parturient mothers were randomized 24-48 hours following delivery to receive either 600,000 IU of vitamin D3 (Cholecalciferol) over 10 days in a dose of 60,000 IU/day or placebo...
October 13, 2017: Breastfeeding Medicine: the Official Journal of the Academy of Breastfeeding Medicine
https://www.readbyqxmd.com/read/29027126/etiology-and-risk-factors-determining-poor-outcome-of-severe-pneumonia-in-under-five-children
#2
Suresh Kumar Jakhar, Mukul Pandey, Dheeraj Shah, V G Ramachandran, Rumpa Saha, Natasha Gupta, Piyush Gupta
OBJECTIVES: To determine the etiology of severe pneumonia (pneumonia with chest indrawing) in under-five children, and to study the risk factors for poor outcomes viz., 'treatment failure', 'need for change in antibiotics', 'prolonged hospital stay', 'need for mechanical ventilation' and 'mortality.' METHODS: Children (age 2 mo to 5 y) with pneumonia and chest drawing were enrolled prospectively from October 2012 through September 2013. Clinical history was recorded, and examination, anthropometry and investigations (including chest X-ray, blood culture and nasopharyngeal swab culture) were performed...
October 13, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29026270/longitudinal-study-on-the-effectiveness-of-vitamin-d-supplements-in-exclusively-breast-fed-infants
#3
Shintaro Terashita, Taichi Nakamura, Noboru Igarashi
Vitamin D deficiency is a common health problem in infancy. Breast-fed infants are at a higher risk of rickets than formula-fed infants. We observed fluctuations in vitamin D levels in infancy (phase I, 2009-2010) and considered the benefits of vitamin D supplementation specifically in exclusively breast-fed infants in Japan (phase II, 2015). Infants born at our hospital were enrolled in this study. In phase I, we measured 25-hydroxyvitamin D [25(OH)D] levels at 1- to 6-mo intervals from birth. In phase II, we measured 25(OH)D levels before and after supplementation...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28982589/identification-of-a-novel-loss-of-function-phex-mutation-ala720ser-in-a-sporadic-case-of-adult-onset-hypophosphatemic-osteomalacia
#4
Katarzyna Goljanek-Whysall, Andreas Tridimas, Rachel McCormick, Nicki-Jayne Russell, Melissa Sloman, Alan Sorani, William D Fraser, Fadil M Hannan
Adults presenting with sporadic hypophosphatemia and elevations in circulating fibroblast growth factor-23 (FGF23) concentrations are usually investigated for an acquired disorder of FGF23 excess such as tumor induced osteomalacia (TIO). However, in some cases the underlying tumor is not detected, and such patients may harbor other causes of FGF23 excess. Indeed, coding-region and 3'UTR mutations of phosphate-regulating neutral endopeptidase (PHEX), which encodes a cell-surface protein that regulates circulating FGF23 concentrations, can lead to alterations in phosphate homeostasis, which are not detected until adulthood...
October 3, 2017: Bone
https://www.readbyqxmd.com/read/28981921/-mutational-analysis-and-prenatal-diagnosis-in-a-family-affected-with-hypophosphatemic-rickets
#5
Zhaotang Luan, Huanzheng Li, Lin Hu, Chong Chen, Xueqin Xu, Yanbao Xiang, Shaohua Tang
OBJECTIVE: To explore the clinical characteristics and genetic mutation in a family affected with hypophosphatemic rickets. METHODS: Whole exome sequencing (WES) was used to screen potential mutations in genomic DNA extracted from peripheral venous blood sample from the proband. Suspected mutation was confirmed with Sanger sequencing. Amniotic fluid was sampled from the proband for prenatal diagnosis. Potential maternal contamination was excluded by analysis of short tandem repeat (STR) markers...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28954742/outcomes-of-orthopedic-surgery-in-a-cohort-of-49-patients-with-x-linked-hypophosphatemic-rickets-xlhr
#6
A Gizard, A Rothenbuhler, Z Pejin, G Finidori, C Glorion, B de Billy, A Linglart, P Wicart
BACKGROUND: X-linked hypophosphatemic rickets (XLHR) is due to mutations in PHEX leading to unregulated production of FGF23 and hypophosphatemia. XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral vitamin analogs, partially or, in some cases, fully restore the limb straightness. Surgery is the alternative for severe or residual limb deformities. OBJECTIVE: To retrospectively assess the results of surgical limb correction in XLHR (osteotomies and bone alignment except for 3 transient hemiepiphysiodesis)...
November 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28943082/nutritional-rickets-in-taiwanese-children-experiences-at-a-single-center
#7
Li-Hsin Chuang, Yi-Ching Tung, Shih-Yao Liu, Cheng-Ting Lee, Huey-Ling Chen, Wen-Yu Tsai
BACKGROUND/PURPOSE: The number of children with nutritional rickets in Taiwan has increased over the last decade. The aim of this study was to present our experiences in the management of patients with this condition. PATIENTS AND METHODS: From 2011 to 2016, 10 children (3 boys and 7 girls) with nutritional rickets were enrolled in this study. Their clinical and biochemical data were analyzed. RESULTS: The median age of the 10 patients was 21 months (range, 12-25 months)...
September 21, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28939209/calcium-and-bone-metabolism-indices
#8
Lu Song
Calcium and inorganic phosphate are of critical importance for many body functions, thus the regulations of their plasma concentrations are tightly controlled by the concerted actions of reabsorption/excretion in the kidney, absorption in the intestines, and exchange from bone, the major reservoir for calcium and phosphate in the body. Parathyroid hormone (PTH) and 1,25-dihydroxyvitamin D (1,25(OH)2D) control calcium homeostasis, whereas PTH, 1,25(OH)2D, and bone-derived fibroblast growth factor 23 (FGF 23) control phosphate homeostasis...
2017: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/28938491/inhibition-of-fgfr-signaling-partially-rescues-hypophosphatemic-rickets-in-hmwfgf2-tg-male-mice
#9
Liping Xiao, Erxia Du, Collin Homer-Bouthiette, Marja M Hurley
Transgenic mice harboring high molecular weight fibroblast growth factor (FGF)2 isoforms (HMWTg) in osteoblast lineage cells phenocopy human X-linked hypophosphatemic rickets (XLH) and Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic rickets. Because HMWFGF2 was upregulated in bones of Hyp mice and abnormal FGF receptor (FGFR) signaling is important in XLH, HMWTg mice were used to examine the effect of the FGFR inhibitor NVP-BGJ398, now in clinical trials for cancer therapy, on hypophosphatemic rickets...
October 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938396/transgenic-expression-of-the-vitamin-d-receptor-restricted-to-the-ileum-cecum-and-colon-of-vitamin-d-receptor-knockout-mice-rescues-vitamin-d-receptor-dependent-rickets
#10
Puneet Dhawan, Vaishali Veldurthy, Ghassan Yehia, Connie Hsaio, Angela Porta, Ki-In Kim, Nishant Patel, Liesbet Lieben, Lieve Verlinden, Geert Carmeliet, Sylvia Christakos
Although the intestine plays the major role in 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) action on calcium homeostasis, the mechanisms involved remain incompletely understood. The established model of 1,25(OH)2D3 regulated intestinal calcium absorption postulates a critical role for the duodenum. However it is the distal intestine where 70 -80% of the ingested calcium is absorbed. In order to test directly the role of 1,25(OH)2D3 and the vitamin D receptor (VDR) in the distal intestine, 3 independent knockout (KO) /transgenic (TG) lines expressing VDR exclusively in the ileum, cecum and colon were generated by breeding VDR KO mice with TG mice expressing human (h)VDR under the control of the 9...
September 11, 2017: Endocrinology
https://www.readbyqxmd.com/read/28937539/congenital-diarrhea-from-dgat1-mutation-leading-to-electrolyte-derangements-protein-losing-enteropathy-and-rickets
#11
Thomas L Ratchford, Amelia J Kirby, Hailey Pinz, Dhiren R Patel
No abstract text is available yet for this article.
September 20, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28924529/anterior-fontanelle-wormian-bone-fontanellar-bone-a-review-of-this-rare-anomaly-with-case-illustration
#12
Jaspreet Johal, Joe Iwanaga, Marios Loukas, R Shane Tubbs
Wormian bones are a relatively rare skeletal anomaly that present as accessory bone(s) within the sutures of the cranium and even more rarely within the fontanelles. It is believed that they arise from the formation of abnormal cranial ossification centers. Although not extensively reported in the literature, this anomaly is thought to be associated with other anatomical anomalies such as osteogenesis imperfecta, rickets, and other bone dysplasias. When located within the fontanelles, the most likely site of occurrence is the posterior fontanelle...
July 7, 2017: Curēus
https://www.readbyqxmd.com/read/28924002/variations-in-infant-and-childhood-vitamin-d-supplementation-programs-across-europe-and-factors-influencing-adherence
#13
Suma Uday, Ardita Kongjonaj, Magda Aguiar, Ted Tulchinsky, Wolfgang Hoegler
BACKGROUND: Nutritional rickets is a growing global public health concern despite existing prevention programs and health policies. We aimed to compare infant and childhood vitamin D supplementation policies, implementation strategies and practices across Europe and explore factors influencing adherence. METHODS: European Society for Paediatric Endocrinology Bone and Growth Plate Working Group members and other specialists completed a questionnaire on country-specific vitamin D supplementation policy and child healthcare programs, socioeconomic factors, policy implementation strategies, and adherence...
September 18, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#14
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28914205/vitamin-d-and-depression-the-evidence-from-an-indirect-clue-to-treatment-strategy
#15
Sok Kuan Wong, Kok Yong Chin, Soelaiman Ima-Nirwana
Depression is a common psychiatric disorder that decreases the quality of life and increases the mortality of patients. It incurs significant healthcare costs if left untreated. Even though intervention with antidepressants can reduce depressive symptoms, side effects are often an issue and relapse is very common. Vitamin D, commonly known as the sunshine vitamin, is an essential fat-soluble vitamin for the absorption of calcium to prevent rickets (children) and osteomalacia (adults). Evidence on a possible relationship between vitamin D deficiency and depression is growing...
September 13, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28904636/the-orthopaedic-management-of-lower-limb-deformity-in-hypophosphataemic-rickets
#16
A Horn, J Wright, D Bockenhauer, W Van't Hoff, D M Eastwood
BACKGROUND: Many patients with X-linked hypophosphataemic rickets (X-LHPR) demonstrate significant lower limb deformity despite optimal medical management. This study evaluates the use of guided growth by means of hemi-epiphysiodesis to address coronal plane deformity in the skeletally immature child. METHODS: Since 2005, 24 patients with X-LHPR have been referred to our orthopaedic unit for evaluation. All patients had standardised long leg radiographs that were analysed sequentially before and after surgery if any was performed...
August 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28902093/bile-acid-synthesis-disorders-in-arabs-a-10-year-screening-study
#17
Abdulrahman Al-Hussaini, Kenneth D R Setchell, Bader AlSaleem, James E Heubi, Khurram Lone, Anne Davit-Spraul, Emmanuel Jacquemin
OBJECTIVES: Early diagnosis of bile acid synthesis disorders (BASD) is important because, untreated, these conditions can be fatal. Our objectives were to screen children with cholestasis or unexplained liver disease for BASD and in those with confirmed BASD to evaluate the effectiveness of cholic acid therapy. METHODS: A routine serum total bile acid measurement was performed on children with cholestasis, liver cirrhosis, and liver failure. Patients were screened for BASD by fast atom bombardment ionization-mass spectrometry (FAB-MS) analysis of urine, and molecular analysis confirmed diagnosis...
September 9, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28873969/clinical-practice-recommendations-for-native-vitamin-d-therapy-in-children-with-chronic-kidney-disease-stages-2-5-and-on-dialysis
#18
Rukshana Shroff, Mandy Wan, Evi V Nagler, Sevcan Bakkaloglu, Dagmar-C Fischer, Nicholas Bishop, Mario Cozzolino, Justine Bacchetta, Alberto Edefonti, Constantinos J Stefanidis, Johan Vande Walle, Dieter Haffner, Günter Klaus, Claus Peter Schmitt
Vitamin D deficiency is widely prevalent and often severe in children and adults with chronic kidney disease (CKD). Although native vitamin D {25-hydroxyvitamin D [25(OH)D]} is thought to have pleiotropic effects on many organ systems, its skeletal effects have been most widely studied. The 25(OH)D deficiency is causally linked with rickets and fractures in healthy children and those with CKD, contributing to the CKD-mineral and bone disorder (MBD) complex. There are few studies to provide evidence for vitamin D therapy or guidelines for its use in CKD...
July 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28833384/primary-hyperparathyroidism-in-chinese-children-and-adolescents-a-single-center-experience-at-peking-union-medical-college-hospital
#19
Wenbo Wang, Jing Kong, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Xiaoping Xing, Ou Wang
OBJECTIVE: Primary hyperparathyroidism (PHPT) in children is thought to be extremely rare. Our study aimed to summarize the clinical characteristics and the molecular genetics in patients with pediatric PHPT in China. DESIGN: Retrospective observational study. METHODS: A total of 59 pediatric PHPT patients (onset age <18 years) admitted to Peking Union Medical College Hospital from 1975 to 2015 were retrospectively identified. A group of 118 adult PHPT patients who presented during the same period were selected for comparing clinical characteristics between the two groups...
August 22, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28822957/two-year-recombinant-human-growth-hormone-rhgh-treatment-is-more-effective-in-pre-pubertal-compared-to-pubertal-short-children-with-x-linked-hypophosphatemic-rickets-xlhr
#20
Anya Rothenbuhler, Laure Esterle, Iva Gueorguieva, Jean-Pierre Salles, Brigitte Mignot, Michel Colle, Agnes Linglart
CONTEXT: Twenty-five to 40% of patients with well-controlled X-linked hypophosphatemic rickets (XLHR) have a final height under -2 SDS. Previous studies have shown that recombinant human growth hormone (rhGH) treatment improves linear growth in short children with XLHR. OBJECTIVE: We studied the effectiveness of rhGH treatment in children with XLHR in a larger cohort. DESIGN: Monocentric, prospective, non-randomized trial. SETTING: University hospital in France...
August 15, 2017: Growth Hormone & IGF Research
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