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https://www.readbyqxmd.com/read/28548312/vitamin-d-dependent-rickets-type-1b-25-hydroxylase-deficiency-a-rare-condition-or-a-misdiagnosed-condition
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28470840/vitamin-d-deficiency-causes-rickets-in-an-urban-informal-settlement-in-kenya-and-is-associated-with-malnutrition
#8
Kelsey D J Jones, C Ulrich Hachmeister, Maureen Khasira, Lorna Cox, Inez Schoenmakers, Caroline Munyi, H Samira Nassir, Barbara Hünten-Kirsch, Ann Prentice, James A Berkley
The commonest cause of rickets worldwide is vitamin D deficiency, but studies from sub-Saharan Africa describe an endemic vitamin D-independent form that responds to dietary calcium enrichment. The extent to which calcium-deficiency rickets is the dominant form across sub-Saharan Africa and in other low-latitude areas is unknown. We aimed to characterise the clinical and biochemical features of young children with rickets in a densely populated urban informal settlement in Kenya. Because malnutrition may mask the clinical features of rickets, we also looked for biochemical indices of risk in children with varying degrees of acute malnutrition...
May 3, 2017: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/28470390/biallelic-mutations-in-cyp24a1-or-slc34a1-as-a-cause-of-infantile-idiopathic-hypercalcemia-iih-with-vitamin-d-hypersensitivity-molecular-study-of-11-historical-iih-cases
#9
Ewa Pronicka, Elżbieta Ciara, Paulina Halat, Agnieszka Janiec, Marek Wójcik, Elżbieta Rowińska, Dariusz Rokicki, Paweł Płudowski, Ewa Wojciechowska, Aldona Wierzbicka, Janusz B Książyk, Agnieszka Jacoszek, Martin Konrad, Karl P Schlingmann, Mieczysław Litwin
Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by "hypersensitivity to vit...
May 3, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28452729/quality-of-life-of-children-with-rickets-in-young-age-in-armenia
#10
R Dunamalyan, M Mardiyan, L Danielyan, S Mkrtchyan, A Chopikyan
Quality of Life (QL) currently is one of the most important criteria for evaluating a child's function. The main characteristics of QL in pediatrics are the psychological, physical and social functioning of the body. Integral characteristics of QOL based on the subjective perception of the components of the child and his parents. As a result of the official statistics and our research it turned out that children in this age-group more often suffer from intestinal infections, anemia, hypertrophy, rickets, skin and subcutaneous fiber disease, deficiencies occurring in prenatal period...
February 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28448761/sleeping-cupid-by-caravaggio-what-diagnosis
#11
Paolo Pozzilli, Marco Cappa
The Sleeping Cupid, by Italian painter Caravaggio is a masterpiece painted in 1608. Signs of an endocrine disease are hidden among the shadows of the painting. We decided to conduct a survey among endocrinologists practicing in Italy and asked them if they could identify a specific disease condition in Caravaggio's Sleeping Cupid. A total of 86 members from two Italian endocrine societies completed the survey, 67 from the Society of Endocrinology and 19 from the Society of Paediatric Endocrinology and Diabetology...
April 27, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28440087/cervical-dural-calcification-and-cervical-myelopathy-in-x-linked-hypophosphataemic-rickets-a-case-report-and-review-of-the-literature
#12
Ali A Najefi, Daniel B Beder, Shiraz A Sabah, Kia Rezajooi
X-linked hypophosphataemic rickets (XLHR) is a genetic disorder resulting from a genetic mutation in the PHEX gene. This may cause ossification of soft tissue structures risking spinal cord compression. We present the first known case of cervical dural calcification secondary to XLHR to cause myelopathic symptoms due to cord compression.
April 25, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28431765/immune-modulation-by-vitamin-d-special-emphasis-on-its-role-in-prevention-and-treatment-of-cancer
#13
REVIEW
Franco Pandolfi, Laura Franza, Claudia Mandolini, Pio Conti
PURPOSE: Vitamin D has been known to be involved in mineral and bone homeostasis for many years. In the past its main use was in treating osteoporosis and rickets. In recent years it was found that vitamin D is an immune-modulating agent and may also have a role in several diseases, including autoimmune diseases. The immune-modulating effects appear to be mediated by vitamin D interaction with the vitamin D receptor (VDR) that has transcriptional effects and is expressed on various cell types, especially those of the immune system...
April 18, 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/28431446/-vitamin-d-in-clinic-and-practice
#14
Armin Zittermann, Stefan Pilz
Vitamin D is unique among the vitamins, since its major source is skin synthesis by solar UVB exposure, whereas dietary intake plays only a minor role. In the general population, cutaneous vitamin D synthesis is clearly below the recommended amount. Dietary vitamin D does not fill this gap. Severe vitamin D deficiency results in rickets in infants and osteomalacia in adults. In the absence of endogenous vitamin D synthesis (e. g. during winter), oral supplements should ensure adequate daily vitamin D intake, where appropriate...
April 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28430915/genetic-knockout-and-rescue-studies-in-mice-unravel-abnormal-phosphorus-threshold-in-hypophosphatemic-rickets
#15
Cheryl P Sanchez, Subburaman Mohan
No abstract text is available yet for this article.
March 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28412519/vitamin-d-signaling-in-intestinal-innate-immunity-and-homeostasis
#16
REVIEW
Vassil Dimitrov, John H White
The lumen of the gut hosts a plethora of microorganisms that participate in food assimilation, inactivation of harmful particles and in vitamin synthesis. On the other hand, enteric flora, a number of food antigens, and toxins are capable of triggering immune responses causing inflammation, which, when unresolved, may lead to chronic conditions such as inflammatory bowel disease (IBD). It is important, therefore, to contain the gut bacteria within the lumen, control microbial load and composition, as well as ensure adequate innate and adaptive immune responses to pathogenic threats...
April 12, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28401345/vitamin-d-in-european-children-statement-from-the-european-academy-of-paediatrics-eap
#17
Zachi Grossman, Adamos Hadjipanayis, Tom Stiris, Stefano Del Torso, Jean-Christophe Mercier, Arunas Valiulis, Raanan Shamir
Vitamin D is synthesized in human skin upon sun exposure and is also a nutrient. It regulates calcium and phosphate metabolism and is essential for the maintenance of bone health. Vitamin D supplementation during infancy, in order to prevent rickets, is universally accepted. Many human cell types carry vitamin D receptor, this being a drive for conducting studies on the possible association between vitamin D status and other diseases. Studies have affirmed that a considerable number of healthy European children may be vitamin D deficient, especially in high-risk groups (darker pigmented skin, living in areas with reduced sun exposure and other disorders)...
June 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28396719/case-of-hepatocellular-carcinoma-in-a-patient-with-hereditary-tyrosinemia-in-the-post-newborn-screening-era
#18
Essam M Imseis, John S Bynon, Chad Thornhill
Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn screening initiatives have resulted in a sharp decline in morbidity and mortality associated with this disease. We present a case report of a 7-year-old patient with HT-1 who was born prior to the addition of tyrosinemia to the newborn screening in her birth area...
March 28, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28383812/mutational-analysis-of-phex-fgf23-and-clcn5-in-patients-with-hypophosphataemic-rickets
#19
Ayla Guven, Roua A Al-Rijjal, Huda A BinEssa, Durmuş Dogan, Yılmaz Kor, Minjing Zou, Namik Kaya, Anwar F Alenezi, Suna Hancili, Ömer Tarım, Essa Y Baitei, Walaa E Kattan, Brian F Meyer, Yufei Shi
CONTEXT: Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3. OBJECTIVE: To investigate underlying genetic defects in patients with hypophosphataemic rickets. METHODS: We analysed genomic DNA from nine unrelated families for mutations in the entire coding region of PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3 by PCR sequencing and copy number analysis...
April 6, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28382841/hepatocellular-carcinoma-in-fanconi-bickel-syndrome
#20
Jennifer Pogoriler, Allison F O'Neill, Stephan D Voss, Robert C Shamberger, Antonio R Perez-Atayde
Fanconi-Bickel syndrome is a rare autosomal recessive disorder due to mutations in the facilitative glucose transporter 2 ( GLUT2 or SLC2A2) gene resulting in excessive glycogen storage predominantly in the liver and kidney. Previous case reports of this condition have described liver biopsies with glycogen storage and variable steatosis and/or fibrosis. Unlike in other types of glycogen storage disease, hepatocellular adenomas and carcinomas have not been described to date in this syndrome. A 6-year-old boy with consanguineous parents had short stature, poorly controlled rickets, hepatosplenomegaly, and renal tubular dysfunction clinically consistent with Fanconi-Bickel Syndrome...
January 1, 2017: Pediatric and Developmental Pathology
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