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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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 8, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28600887/therapeutic-effects-of-fgf23-c-tail-fc-in-a-murine-pre-clinical-model-of-x-linked-hypophosphatemia-via-the-selective-modulation-of-phosphate-reabsorption
#10
Kristen Johnson, Kymberly Levine, Joseph Sergi, Jean Chamoun, Rachel Roach, Jackie Vekich, Mike Favis, Mark Horn, Xianjun Cao, Brian Miller, William Snyder, Dikran Aivazian, William Reagan, Edwin Berryman, Jennifer Colangelo, Victoria Markiewicz, Cedo Bagi, Thomas P Brown, Anthony Coyle, Moosa Mohammadi, Jeanne Magram
Fibroblast growth factor 23 (FGF23) is the causative factor of X-linked hypophosphatemia (XLH), a genetic disorder effecting 1:20,000 that is characterized by excessive phosphate excretion, elevated FGF23 levels and a rickets/osteomalacia phenotype. FGF23 inhibits phosphate reabsorption and suppresses 1α,25-dihydroxyvitamin D (1,25D) biosynthesis, analytes that differentially contribute to bone integrity and deleterious soft tissue mineralization. As inhibition of ligand broadly modulates downstream targets, balancing efficacy and unwanted toxicity is difficult when targeting the FGF23 pathway...
June 10, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28594291/rickets-in-a-6-year-old-girl-resulting-in-extreme-deformities
#11
Asad Abbas, Zeeba Zaka-Ur-Rab
Rickets remains endemic in low- and middle-income countries (LMIC) and has re-emerged in high-income countries. Poverty, ignorance and poor healthcare in LMIC still contribute to development of the disease and, if untreated, its progression to severe forms. A 6-year-old girl from a poor background presented with malnutrition, anaemia, rachitic rosary and severe deformities of the upper and lower limbs owing to vitamin D deficiency. Although she responded well to treatment initially, some of the deformities required surgical intervention...
June 8, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28587998/clinical-and-genetic-analysis-of-two-chinese-families-with-vitamin-d-dependent-rickets-type-ia-and-follow-up
#12
Chen Ruimin, Li Yunfei, Yuan Xin, Lin Xiangquan, Yang Xiaohong, Zhang Ying
OBJECTIVE: Vitamin D-dependent rickets type IA (VDDR-IA) is a rare autosomal recessive disorder characterized by the early onset of severe rickets. The objectives of this study were twofold: 1) to analyze the clinical characteristics and therapy of two patients with VDDR-IA from two separate Chinese family, and 2) investigate the CYP27B1 gene in two large pedigrees. METHODS: Medical history, clinical manifestations, physical examination, radiological findings and laboratory data were analyzed from two patients with VDDR-IA...
June 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28554929/nutritional-rickets-in-norway-a-nationwide-register-based-cohort-study
#13
Haakon E Meyer, Kristina Skram, Ingvill Almås Berge, Ahmed A Madar, Hilde Johanne Bjørndalen
OBJECTIVES: Poor vitamin D status has been reported to be highly prevalent in many non-western immigrant groups living in Norway and other western countries. However, data on rickets are scarce, and the aim of the current study was to identify new cases of nutritional rickets in Norway in the period 2008-2012 among children under the age of 5 years. DESIGN: Register-based cohort study. SETTING: The Norwegian population from 2008 to 2012. PARTICIPANTS: Children with nutritional rickets under the age of 5 years...
May 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/28548312/vitamin-d-dependent-rickets-type-1b-25-hydroxylase-deficiency-a-rare-condition-or-a-misdiagnosed-condition
#14
Molin A, Wiedemann A, Demers N, Kaufmann M, Do Cao J, Mainard L, Dousset B, Journeau P, Abeguile G, Coudray N, Mittre H, Richard N, Weryha G, Sorlin A, Jones G, Kottler Ml, Feillet F
Vitamin D requires a two-step activation by hydroxylation: the first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2), and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH)2 D. Mutations of CYP2R1 have been associated with Vitamin D-dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported to affect 4 families to date. We describe 7 patients from two unrelated families who presented with homozygous loss-of-function mutations of CYP2R1...
May 26, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28538069/normocephalic-pancraniosynostosis-a-report-of-a-surgical-technique
#15
Marcin Czerwinski, Sharon Monsivais
Normocephalic pancraniosynostosis is defined as the premature fusion of 3 or, more major sutures in the absence of another primary etiology, including primary, microcephaly, ventriculoperitoneal shunting, hypothyroidism, rickets, mucopolysaccharidoses, or other lysosomal storage diseases. It is very rare, thus far only 6 patients have been reported in the literature. Patients tend to present much later than those with single sutural, synostoses, and up to half have evidence of elevated intracranial pressure...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28509123/serum-calcitriol-levels-in-a-patient-with-x-linked-hypophosphatemia-complicated-by-autosomal-dominant-polycystic-kidney-disease
#16
Satomi Kajita, Takehisa Yamamoto, Naoko Tsugawa, Hirohumi Nakayama, Takuo Kubota, Toshimi Michigami, Keiichi Ozono
Serum calcitriol [1,25(OH)2D] levels are low normal in the presence of hypophosphatemia in X-linked dominant hypophosphatemic rickets (XLH) due to elevated serum fibroblast growth factor 23 (FGF23) levels. We report a peculiar finding of markedly elevated serum 1,25(OH)2D levels in a patient with XLH complicated by autosomal dominant polycystic kidney disease (ADPKD) and retinitis pigmentosa (RP). She was diagnosed with XLH, ADPKD and RP at the age of 5, 13 and 15 years, respectively. After the diagnosis of ADPKD, the 1,25(OH)2D levels increased up to 282 pg/mL treated with a pharmacological dose of 1αOHD3 (1αOHD3)...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28506344/-novel-phex-gene-mutations-in-patients-with-x-linked-hypophosphatemic-rickets-an-analysis-of-2-cases
#17
Qing Ran, Feng Xiong, Min Zhu, Lei-Li Deng, Pei-Yun Lei, Yan-Hong Luo, Yan Zeng, Gao-Hui Zhu, Cui Song
OBJECTIVE: To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology. METHODS: A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH. PCR-Sanger sequencing was used to verify the distribution of mutations in families. RESULTS: Both patients had novel mutations in the PHEX gene; one patient had a frameshift mutation, c...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28501532/targeted-inhibition-of-klotho-binding-to-fibroblast-growth-factor-23-prevents-hypophosphetemia
#18
Muhammad Fakhar, Sajid Rashid
Klotho is a transmembrane protein which plays significant role in the pathogenesis of phosphate ion (Pi)-related disorders. Pi accumulation in human kidney tissues results in the major metabolic disorders due to malfunctioning of Klotho-FGFR1-FGF23 trimeric complex. The potential role of Klotho in Pi metabolism was elaborated through modeling and interaction analysis of glycosyl hydrolase (GS1 and GS2) domains with Fibroblast growth factor 23 (FGF23). In order to inhibit the association of Klotho and FGF23, binding patterns of three reported hits (N-(2-chlorophenyl)-1H-indole-3-carboxamide, N-[2-(1-cyclohexen-1-yl)ethyl]-6,7,8,9-tetrahydropyrido[1,2-e]purin-4-amine and 2-(1-propyl)amino-11-chlorothiazolo[5,4-a]acridine) were evaluated through molecular docking analysis...
April 27, 2017: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/28493372/glycosuria-and-hyperglycemia-in-the-neonatal-period-as-the-first-clinical-sign-of-fanconi-bickel-syndrome
#19
María Pilar Bahíllo-Curieses, Rebeca Garrote-Molpeceres, María Miñambres-Rodríguez, M Rosa Del Real-Llorente, Cristina Tobar-Mideros, Sara Rellán-Rodríguez
Fanconi-Bickel syndrome is a rare inherited disease characterized by the combination of hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. The first symptoms of the disorder are recognized in late infancy as clinical characteristics appear. Therapeutic approach is mainly conservative with supplements of calcium, phosphate and vitamin D and small frequent feedings to avoid hypoglycemia. We report 1 clinical case of very early diagnosis, a 19 days old baby girl, in which the first clinical sign of the disease was the detection of glycosuria and vomits...
May 11, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28481882/vitamin-d-supplementation-and-growth-in-urban-mongol-school-children-results-from-two-randomized-clinical-trials
#20
Davaasambuu Ganmaa, Jennifer J Stuart, Nyamjav Sumberzul, Boldbaatar Ninjin, Edward Giovannucci, Ken Kleinman, Michael F Holick, Walter C Willett, Lindsay A Frazier, Janet W Rich-Edwards
BACKGROUND: Symptomatic vitamin D deficiency is associated with slowed growth in children. It is unknown whether vitamin D repletion in children with asymptomatic serum vitamin D deficiency can restore normal growth. OBJECTIVE: We tested the impact of vitamin D-supplementation on serum concentrations of 25-hydroxyvitamin D [25(OH)D] and short-term growth in Mongol children, with very low serum vitamin D levels in winter. DESIGN: We conducted two randomized, double-blind, placebo-controlled trials in urban school age children without clinical signs of rickets...
2017: PloS One
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