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https://www.readbyqxmd.com/read/28818584/-neonatal-intoxication-to-vitamin-d-in-premature-babies-a-series-of-16%C3%A2-cases
#1
M Vierge, S Laborie, A Bertholet-Thomas, M-C Carlier, J-C Picaud, O Claris, J Bacchetta
INTRODUCTION: Preterm neonates are particularly at risk of vitamin D (25-D) deficiency. To prevent rickets and osteopenia in this population, international guidelines vary between 800 and 1000IU per day of vitamin D in Europe and recommend 400IU per day in the USA. Target levels of circulating 25-D are not well identified, with the lower target level 50-75nmol/L and the upper target level probably 120nmol/L. METHODS: Between 2013 and 2015, 16 premature infants (born<35WG) were referred to pediatric nephrology clinics because of symptoms secondary to 25-D overdose during the neonatal period...
August 14, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28808956/erratum-to-nutritional-rickets-and-osteomalacia-in-the-twenty-first-century-revised-concepts-public-health-and-prevention-strategies
#2
Suma Uday, Wolfgang Högler
No abstract text is available yet for this article.
August 14, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28781857/it-is-not-always-child-abuse-multiple-fractures-due-to-hypophosphatemic-rickets-associated-with-elemental-formula-use
#3
Kamal Abulebda, Samer Abu-Sultaneh, Riad Lutfi
Rickets is not a disease of the past. We described a toddler who developed hypophosphatemic rickets associated with the use of elemental formula. This case highlights the importance of frequent monitoring of mineral metabolism in children receiving elemental formula and considering rickets in the workup of child abuse.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28769581/clinical-utility-of-nitisinone-for-the-treatment-of-hereditary-tyrosinemia-type-1-ht-1
#4
REVIEW
Anibh Martin Das
Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product of agrochemistry. It blocks the catabolic pathway of tyrosine, thereby leading to a reduction in the accumulation of toxic metabolites in HT-1. It has to be combined with a low-protein diet supplemented with amino acid mixtures devoid of tyrosine and phenylalanine. This treatment option has completely changed the clinical course of patients suffering from HT-1 who used to die in the first few months to years of life from liver failure, renal dysfunction, and/or hepatocellular carcinoma (HCC)...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28761972/evaluation-of-a-new-fully-automated-assay-for-plasma-intact-fgf23
#5
Jean-Claude Souberbielle, Dominique Prié, Marie-Liesse Piketty, Anya Rothenbuhler, Pierre Delanaye, Philippe Chanson, Etienne Cavalier
Several FGF23 immunoassays are available. However, they are reserved for research purposes as none have been approved for clinical use. We evaluated the performances of a new automated assay for intact FGF23 on the DiaSorin Liaison platform which is approved for clinical use. We established reference values in 908 healthy French subjects aged 18-89 years, and measured iFGF23 in patients with disorders of phosphate metabolism and in patients with chronic kidney disease (CKD). Intra-assay CV was 1.04-2.86% and inter-assay CV was 4...
July 31, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28755194/hereditary-tyrosinemia-type-1-in-turkey
#6
Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M Serif Cansever
Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755187/ntbc-and-correction-of-renal-dysfunction
#7
Arianna Maiorana, Carlo Dionisi-Vici
Hereditary tyrosinemia type 1 (HT1) is characterized by severe progressive liver disease and renal tubular dysfunction. Kidney involvement is characterized by hypophosphatemic rickets and Fanconi syndrome. Different animal models were useful to investigate the pathophysiology of the disease and the effects of NTBC therapy on liver and kidney function. NTBC has revolutionized the prognosis of HT1 and its acute and chronic effects on renal tubular function have been proved, with normalization of tubular function within a few weeks, particularly hypophosphatemia and proteinuria...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28737142/prevention-and-treatment-of-vitamin-d-and-calcium-deficiency-in-children-and-adolescents-indian-academy-of-pediatrics-iap-guidelines
#8
Anuradha Khadilkar, Vaman Khadilkar, Jagdish Chinnappa, Narendra Rathi, Rajesh Khadgawat, S Balasubramanian, Bakul Parekh, Pramod Jog
JUSTIFICATION: Vitamin D deficiency (VDD) is being increasingly reported from India from all age-groups. Reports suggest that VDD affects all age groups, from neonates to adolescents. Further, habitually low calcium intakes are also reported in Indian children. Given the multiple guidelines, peculiarities of Indian circumstances, changing lifestyles, and lack of fortification, the Indian Academy of Pediatrics (IAP) felt the need for a Practice Guideline for Pediatricians for the prevention and treatment of vitamin D and calcium deficiency in children and adolescents...
July 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28732535/case-report-rare-skeletal-manifestations-in-a-child-with-primary-hyperparathyroidism
#9
Maulee Hiromi Arambewela, Kamani Danushka Liyanarachchi, Noel P Somasundaram, Aruna S Pallewatte, Gamini L Punchihewa
BACKGROUND: Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma. CASE PRESENTATION: A 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum...
July 21, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28728941/comparison-of-calcimimetic-r568-and-calcitriol-in-mineral-homeostasis-in-the-hyp-mouse-a-murine-homolog-of-x-linked-hypophosphatemia
#10
Maren Leifheit-Nestler, Julia Kucka, Emi Yoshizawa, Geert Behets, Patrick D'Haese, Christian Bergen, Martin Meier, Dagmar-Christiane Fischer, Dieter Haffner
X-linked hypophosphatemia (XLH) caused by mutations in the Phex gene is the most common human inherited phosphate wasting disorder characterized by enhanced synthesis of fibroblast growth factor 23 (FGF23) in bone, renal phosphate wasting, 1,25(OH)2D3 (1,25D) deficiency, rickets and osteomalacia. Here we studied the effects of calcimimetic R568 and calcitriol treatment in the Hyp mouse, a murine homolog of XLH. We hypothesized that mineral homeostasis is differentially affected by R568 and 1,25D with respect to the PTH-vitamin D-FGF23-Klotho axis and bone health...
July 18, 2017: Bone
https://www.readbyqxmd.com/read/28724169/the-spectrum-of-vitamin-d-deficiency-description-of-a-family
#11
Francesco Vierucci, Marta Del Pistoia, Emioli Randazzo, Francesco Massart, Giovanni Federico
Background Vitamin D deficiency represents a global health problem, affecting children and adolescents worldwide. Objects To confirm that vitamin D deficiency can present as a spectrum of clinical pictures. Methods We diagnosed nutritional rickets in a 10-month-old infant of Senegal origin with several risk factors for vitamin D deficiency. As many of these factors affected also his cohabitant relatives, we evaluate infant's family members (mother and 4 brothers) looking for other vitamin D deficiency-related comorbidities...
July 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28698609/functional-analyses-of-a-novel-missense-and-other-mutations-of-the-vitamin-d-receptor-in-association-with-alopecia
#12
Mayuko Tamura, Michiyasu Ishizawa, Tsuyoshi Isojima, Samim Özen, Akira Oka, Makoto Makishima, Sachiko Kitanaka
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is a rare disorder, caused by bialellic mutations of the vitamin D receptor (VDR) gene, sometimes associated with alopecia. The aim of this study is to elucidate the mechanism of functional disruption of a novel mutation, detected in a patient with HVDRR, comparing to other mutations with or without alopecia. The patient was a 2-year-old girl with alopecia, who was clinically diagnosed as HVDRR. Genetic analysis revealed a novel homozygous mutation, S360P, located in ligand binding domain (LBD)...
July 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28693088/-study-of-the-relevant-factors-of-behavioral-development-among-30-month-old-infants-in-rural-area-of-shaanxi-province
#13
X Yang, Z H Zhu, M Zhang, D Y Li, D L Liu, Y Cheng, H Yan, L X Zeng
Objective: To explore the relevant factors of behavioral development among 30-month-old infants in rural area, Shaanxi Province. Methods: The behavioral development among 977 infants aged 30-month-old was evaluated in Changwu and Binxian of Shaanxi province from July 2006 to August 2008. The inclusion criteria included single live birth between January 2004 and February 2006, mother had participated in a community-based intervention study named "Impact of multi-micronutrient supplementation during pregnancy on low birth weight and premature delivery" ...
July 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/28690912/atypical-skeletal-manifestations-of-rickets-in-a-familial-hypocalciuric-hypercalcemia-patient
#14
Bo Wu, Ou Wang, Yan Jiang, Mei Li, Xiaoping Xing, Weibo Xia
Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating mutations in the calcium-sensing receptor (CaSR) gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy with FHH who presented with skeletal manifestations of rickets. To identify the possible pathogenic mutation, the patient was evaluated clinically, biochemically, and radiographically. The patient and his family members were screened for genetic mutations...
2017: Bone Research
https://www.readbyqxmd.com/read/28688105/intussusception-in-celiac-disease-is-it-a-common-feature-in-children
#15
Vibhor V Borkar, Ujjal Poddar, Anuj Thakral, Jaya Agarwal, Anshu Srivastava, Surender Kumar Yachha, Sheo Kumar
BACKGROUND/AIMS: There are sporadic reports of occurrence of intussusception in celiac disease (CD) but no systematic study yet. We prospectively studied the prevalence and natural history of intussusception in newly diagnosed CD. METHODS: From January 2010 to October 2013, 150 children, diagnosed to have CD on the basis of positive serology and duodenal biopsy, were recruited in this study. Abdominal ultrasonography was done before starting gluten-free diet (GFD) and repeated in those who had intussusception, on day three and then weekly till the resolution of intussusception...
July 7, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28687698/cupping-at-the-ends-of-ribs-is-not-always-rickets
#16
Ankur Kumar Jindal, Amit Rawat
No abstract text is available yet for this article.
July 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28686309/absence-of-calcitriol-causes-increased-lactational-bone-loss-and-lower-milk-calcium-but-does-not-impair-post-lactation-bone-recovery-in-cyp27b1-null-mice
#17
Brittany R Gillies, Brittany A Ryan, Brett A Tonkin, Ingrid J Poulton, Yue Ma, Beth J Kirby, René St-Arnaud, Natalie A Sims, Christopher S Kovacs
We hypothesized that adaptation to calcium supply demands of pregnancy and lactation do not require calcitriol. Adult Cyp27b1 null mice lack calcitriol and have hypocalcemia, hypophosphatemia, and rickets. We studied wild-type (WT) and null sister pairs raised on a calcium-, phosphorus-, and lactose-enriched "rescue" diet that prevents hypocalcemia and rickets. Bone mineral content (BMC) increased >30% in pregnant nulls, declined 30% during lactation, and increased 30% by 4 weeks post-weaning. WT showed less marked changes...
July 7, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28668218/-severe-nutritional-rickets-in-young-children-resurgence-of-an-old-disease
#18
S Estrade, C Majorel, N Tahhan, Y Dulac, C Baunin, I Gennero, Y Chaix, J-P Salles, T Edouard
Nutritional rickets remains a significant public health issue for children worldwide. Although it has almost disappeared in industrialized countries following routine vitamin D supplementation, recent evidence suggests an increasing incidence, especially in young children. In addition to the classical clinical consequences on bone and the growth plate, rickets may also be associated with life-threatening neurological and cardiac complications in the most severe forms. Consequently, early screening and treatment are required...
June 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28664247/association-between-leg-bowing-and-serum-alkaline-phosphatase-level-regardless-of-the-presence-of-a-radiographic-growth-plate-abnormality-in-pediatric-patients-with-genu-varum
#19
Yuko Sakamoto, Muneaki Ishijima, Mayuko Kinoshita, Lizu Liu, Mitsuyoshi Suzuki, Sung-Gon Kim, Koichi Kamata, Akifumi Tokita, Haruka Kaneko, Toshiaki Shimizu, Kazuo Kaneko, Masahiko Nozawa
When children around 2 years of age show leg bowing and diseases are ruled out based on radiographic findings without conducting blood tests, they are classified as "physiologic" genu varum. Since whether or not physiologic genu varum is associated with bone metabolism is unclear, this study was conducted to clarify the association between genu varum and bone metabolism in children. Thirty-five pediatric patients with genu varm who visited our out-patient clinic were enrolled. While two of the 35 children had nutritional rickets, showing abnormalities on both blood test (ALP, ≥1000 IU/L; iPTH, >65 pg/mL and 25(OH)D, ≤20 ng/mL) and radiographs (such as cupping, fraying or splaying), five of 35 children showed abnormalities on blood tests but not radiographs...
June 29, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28659589/vitamin-d-modulation-of-trail-expression-in-human-milk-and-mammary-epithelial-cells
#20
Yuvaraj Sambandam, Sakamuri V Reddy, Jennifer L Mulligan, Christina Voelkel-Johnson, Carol L Wagner
The vitamin D levels in mothers affect the health status of both the mother and breastfeeding infant. 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. We hypothesized that vitamin D deficiency alters TRAIL protein levels in human breast milk and mammary epithelial cells...
June 28, 2017: Scientific Reports
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