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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
#1
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 17, 2017: Bone
https://www.readbyqxmd.com/read/28724169/the-spectrum-of-vitamin-d-deficiency-description-of-a-family
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28642858/pathological-fracture-of-femoral-neck-leading-to-a-diagnosis-of-wilson-s-disease-a-case-report-and-review-of-literature
#12
Nishit Bhatnagar, Purushotham Lingaiah, Jeetendra Singh Lodhi, Yugal Karkhur
Wilson's disease (WD) is a rare inherited disorder of copper metabolism. It chiefly has hepatic, neurological and ophthalmic manifestations. Although osteoporosis, rickets and early arthritis are common features of WD, they are under-recognized. Musculoskeletal manifestations very rarely lead to diagnosis of the disease. Here we present a case of a 12-year-old girl who presented with a 3-month-old pathological fracture of neck of femur. WD was diagnosed on investigating the cause of the pathological fracture, which was managed by performing a conventional McMurray's intertrochanteric osteotomy...
May 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/28620554/clinical-phenotype-in-a-toddler-with-a-novel-heterozygous-mutation-of-the-vitamin-d-receptor
#13
Preneet Cheema Brar, Elena Dingle, John Pappas, Manish Raisingani
We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D).
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28620422/special-considerations-for-vitamin-d-in-the-south-asian-population-in-the-uk
#14
REVIEW
Nicola M Lowe, Issak Bhojani
The human requirement for vitamin D is achieved primarily through the synthesis of this prehormone in the skin during exposure to ultraviolet B (UVB) radiation, with only a minor contribution from the diet, year round. Achieving optimal vitamin D status is therefore largely dependent upon adequate exposure of the skin to sunlight, however, the length of exposure required varies with latitude and season, and is also dependent upon skin pigmentation, with darker skin requiring greater exposure than fair skin due to the protective effects of melanin against UVB radiation...
June 2017: Therapeutic Advances in Musculoskeletal Disease
https://www.readbyqxmd.com/read/28617182/simultaneous-bilateral-correction-of-genu-varum-with-smart-frame
#15
Barış Özkul, Yalkin Çamurcu, Sami Sokucu, Umut Yavuz, Yunus Emre Akman, Bilal Demir
PURPOSE: The aim of this study is to evaluate clinical and radiological results of simultaneous bilateral correction of genu varum with Smart frame. METHODS: Between 2011 and 2015, a total of 25 patients (10 females, 15 males) who had bilateral genu varum deformity were operated bilaterally with tibial and fibular osteotomy in the same session, using Smart frame. The mean follow-up period was 28.7 (range, 13-45) months. All patients had bilateral tibial varus deformity...
May 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28612338/nutritional-rickets-and-osteomalacia-in-the-twenty-first-century-revised-concepts-public-health-and-prevention-strategies
#16
REVIEW
Suma Uday, Wolfgang Högler
PURPOSE OF REVIEW: Nutritional rickets and osteomalacia are common in dark-skinned and migrant populations. Their global incidence is rising due to changing population demographics, failing prevention policies and missing implementation strategies. The calcium deprivation spectrum has hypocalcaemic (seizures, tetany and dilated cardiomyopathy) and late hypophosphataemic (rickets, osteomalacia and muscle weakness) complications. This article reviews sustainable prevention strategies and identifies areas for future research...
June 13, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28608052/craniofacial-and-dental-characteristics-of-patients-with-vitamin-d-dependent-rickets-type-1a-compared-to-controls-and-patients-with-x-linked-hypophosphatemia
#17
Hans Gjørup, Signe Sparre Beck-Nielsen, Dorte Haubek
ᅟOBJECTIVES: Vitamin-D-dependent rickets type 1A (VDDR1A) is a rare inherited disease caused by defective activation of vitamin D. The aim of the study was to describe the craniofacial characteristics and the dental phenotype of patients with genetically confirmed VDDR1A. The VDDR1A findings were compared to findings in patients with X-linked hypophosphatemia (XLH) and healthy controls. MATERIAL AND METHODS: Ten patients with VDDR1A were identified. The reference group for the comparison of cephalometric findings was 49 adults without chronic disease...
June 12, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28607944/vitamin-d-deficient-rickets-in-japan
#18
Mitsuko Itoh, Jun Tomio, Satoshi Toyokawa, Mayuko Tamura, Tsuyoshi Isojima, Sachiko Kitanaka, Yasuki Kobayashi
Objectives: Our study aimed to clarify the trend of vitamin D deficiency and rickets diagnosed in the past 10 years. Methods: This observational study used health insurance claims data from 2005 to 2014. The number of beneficiaries for 2005 and 2014 were 91 617 and 365 800, respectively. We included children aged 0 to 15 years diagnosed with vitamin D deficiency or vitamin D-deficient rickets; those with congenital/secondary rickets and low-birth-weight infants were excluded. We analyzed the number of patients and the temporal trend of these diseases in Japan...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28603080/a-novel-auditory-ossicles-membrane-and-the-development-of-conductive-hearing-loss-in-dmp1-null-mice
#19
Kun Lv, Haiyang Huang, Xing Yi, Mark E Chertoff, Chaoyuan Li, Baozhi Yuan, Robert J Hinton, Jian Q Feng
Genetic mouse models are widely used for understanding human diseases but we know much less about the anatomical structure of the auditory ossicles in the mouse than we do about human ossicles. Furthermore, current studies have mainly focused on disease conditions such as osteomalacia and rickets in patients with hypophosphatemia rickets, although the reason that these patients develop late-onset hearing loss is unknown. In this study, we first analyzed Dmp1 lac Z knock-in auditory ossicles (in which the blue reporter is used to trace DMP1 expression in osteocytes) using X-gal staining and discovered a novel bony membrane surrounding the mouse malleus...
June 8, 2017: Bone
https://www.readbyqxmd.com/read/28602960/the-impact-of-vdr-expression-and-regulation-in-vivo
#20
Seong Min Lee, Mark B Meyer, Nancy A Benkusky, Charles A O'Brien, J Wesley Pike
The vitamin D receptor (VDR) mediates the pleiotropic biological actions of 1,25-dihydroxyvitamin D3 (1,25(OH)2D3). These actions include orchestration of mineral homeostasis which is coordinated by the kidney, intestine, bone and parathyroid gland wherein the VDR transcriptionally regulates expression of the genes involved in this complex process. Mutations in human VDR (hVDR) cause hereditary vitamin D resistant rickets, a genetic syndrome characterized by hypocalcemia, hyperparathyroidism and rickets resulting from dysregulation of mineral homeostasis...
June 9, 2017: Journal of Steroid Biochemistry and Molecular Biology
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