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https://www.readbyqxmd.com/read/29442350/occult-phosphaturic-mesenchymal-tumor-of-femur-cortex-causing-oncogenic-osteomalacia-diagnostic-challenges-and-clinical-outcomes
#1
Deep Dutta, Raghuvansh Kumar Pandey, Rakhee Gogoi, Nagender Solanki, Renu Madan, Anupam Mondal, Shruti Dogra, Pradeep Thapa
BACKGROUND: Tumor induced osteomalacia (TIO) are extremely rare paraneoplastic syndrome with less than 300 reported cases. This report highlights the pitfalls and challenges in diagnosing and localizing TIO in patients with refractory and resistant osteomalacia. PATIENT AND METHODS: 41- year gentleman with 4-year history of musculoskeletal weakness and pathologic fractures presented in wheelchair bound incapacitated state of 1-year duration. Investigations were significant for severe hypophosphatemia, severe phosphaturia, normal serum calcium, reduced 1,25-dihydroxy vitamin-D, elevated ALP, elevated intact parathyroid hormone (iPTH), and pseudo-fractures involving pelvis and bilateral femur...
February 14, 2018: Endokrynologia Polska
https://www.readbyqxmd.com/read/29435763/functions-of-vitamin-d-in-bone
#2
REVIEW
D Goltzman
Vitamin D, synthesized in the skin or absorbed from the diet, undergoes multi-step enzymatic conversion to its active form, 1,25-dihydroxy vitamin D [1,25(OH) 2 D], followed by interaction with the vitamin D receptor (VDR), to modulate target gene expression. Loss-of function mutations in the genes encoding the enzymes regulating these processes, or in the VDR, result in human diseases, which have demonstrated the paramount role of 1,25(OH) 2 D in mineral and skeletal homeostasis. Mouse genetics has been used to create disease phenocopies which have produced considerable insight into the mechanisms of 1,25(OH) 2 D regulation of mineral and skeletal metabolism...
February 12, 2018: Histochemistry and Cell Biology
https://www.readbyqxmd.com/read/29417983/rare-genetically-conditioned-forms-of-rickets-differential-diagnosis-and-advances-in-diagnostics-and-treatment
#3
REVIEW
I Michałus, A Rusińska
Apart from the classic forms of rickets, there are rare genetic disorders from the group of vitamin D-resistant rickets where the clinical picture is very similar to the classic forms. Diagnosis of genetically conditioned rickets is often delayed. It is very important to know that a disorder of genetic background may be the cause of the failure of classic treatment in patients with rachitic symptoms. In the group of genetically conditioned rickets there are, among others, congenital hypophosphatemic rickets and vitamin D-dependent rickets type I and II...
February 8, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29416264/breath-holding-in-vitamin-d-deficiency-rickets-a-dilemma-for-the-anesthetist
#4
Madhu Rao, Deviprasad Shetty, Kush Ashokkumar Goyal, Lokvendra Singh Budania
No abstract text is available yet for this article.
October 2017: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/29416255/vitamin-d-resistant-rickets-what-an-anesthesiologist-should-know
#5
Priyanka Pradeep Karnik, Nandini Malay Dave, Madhu Garasia
No abstract text is available yet for this article.
October 2017: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/29409076/the-primary-physis
#6
James M Brian, David H Choi, Michael M Moore
The primary physis is responsible for long bone growth in children and adolescents. Injury and physiologic or metabolic stress to the primary physis present unique radiologic findings that are important for radiologists to recognize and diagnose. Appreciation of the anatomy and histology of the primary physis forms the basis for understanding the imaging findings associated with pathologic conditions affecting the primary physis. Salter-Harris injuries, physeal bars, growth arrest lines, rickets, and focal periphyseal edema zones are common conditions with recognizable radiologic presentations...
February 2018: Seminars in Musculoskeletal Radiology
https://www.readbyqxmd.com/read/29406999/serum-cholecalciferol-may-be-a-better-marker-of-vitamin-d-status-than-25-hydroxyvitamin-d
#7
Rolf Jorde, G Grimnes
Vitamin D is produced in the skin upon sun-exposure or obtained through the diet. Vitamin D is hydroxylated to 25-hydroxyvitamin D (25(OH)D) in the liver and to the active form 1,25-dihydroxyvitamin D (1,25(OH) 2 D) in the kidneys. To exert its effect 1,25(OH) 2 D has to bind to the nuclear vitamin D receptor VDR. Lack of vitamin D leads to rickets in children and to osteomalacia in adults. 25(OH)D is used as a marker of a subject's vitamin D status. Low serum 25(OH)D levels are associated with a number of diseases, risk factors for disease and increased mortality...
February 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29405935/hypophosphatasia-in-children-and-adolescents-clinical-features-and-treatment
#8
A Rothenbuhler, A Linglart
Hypophosphatasia (HPP) is a rare genetic disease due to loss of function mutations in the gene that encodes for Alkaline Phosphatase-Liver (ALPL) that encodes for tissue non-specific alkaline phosphatase (TNSALP) or ALP. Juvenile HPP is, by definition, diagnosed between 6 months of age and adulthood. The clinical signs and symptoms of juvenile HPP are very heterogeneous in their presentation, severity and course. The bone (impaired bone mineralization, leg deformations, pain, rickets, growth abnormalities) and dental (premature loss of deciduous teeth) abnormalities are the best known...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29402113/-state-school-polyclinic-in-petrinja-1925-1945
#9
Boris Vrga, Tatjana Vrga
What has been researched and reconstructed, based on archival documents and data from professional literature, is the activity of the State school-polyclinic in Petrinja, from its foundation in 1925 to its termination in 1945. Key figures taking part in its activity have also been highlighted. Founded as one of the first school-polyclinics in Croatia, the State school-polyclinic in Petrinja developed complete preventive and curative health activities aimed at school population in Petrinja as well as at pupils from the village schools in Petrinja County...
December 2017: Acta Medico-historica Adriatica: AMHA
https://www.readbyqxmd.com/read/29393614/hypocalcaemia-leading-to-supra-ventricular-tachycardia-in-a-three-month-old-sri-lankan-infant-with-vitamin-d-deficient-rickets-a-case-report
#10
M P Fernando, P J Perera, O J Muthukumarana, K Uyangoda
No abstract text is available yet for this article.
December 26, 2017: Ceylon Medical Journal
https://www.readbyqxmd.com/read/29393334/two-novel-variants-of-the-phex-gene-in-patients-with-x%C3%A2-linked-dominant-hypophosphatemic-rickets-and-prenatal-diagnosis-for-fetuses-in-these-families
#11
Hong Liao, Hong-Mei Zhu, Hong-Qian Liu, Ling-Ping Li, Shan-Ling Liu, He Wang
X‑linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X‑linked dominant disorder caused by mutations in the phosphate‑regulating neutral endopeptidase homolog X‑linked (PHEX) gene, which is located at Xp22.11. In the present study, two novel variants of the PHEX gene were identified in two unrelated families with XLHR by directly sequencing all 22 exon regions and intron/exon boundaries of the PHEX gene. One missense variant, NM_000444.5: c.1721T>A, was identified in exon 17 of the PHEX gene in Family 1, which led to an amino acid change in the p...
January 18, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29388405/-vitamin-d-deficiency-during-pregnancy-what-s-the-local-situation
#12
L Vranken, P Emonts, O Bruyère, E Cavalier
Vitamin D deficiency is a worldwide health problem, also during pregnancy. Inadequate maternal vitamin D status in pregnancy is associated with poor fetal growth, impaired bone development and rickets in infants after birth. Furthermore, higher rates of preeclampsia and gestational diabetes are associated with low maternal vitamin D status during pregnancy. Toxicity of vitamin D is rare. Most countries recommend vitamin D supplementation during pregnancy but guidelines are controversial and inadequate compared to real mother's and child's needs...
January 2018: Revue Médicale de Liège
https://www.readbyqxmd.com/read/29381780/x-linked-hypophosphatemia-and-fgf23-related-hypophosphatemic-diseases-prospect-for-new-treatment
#13
Yuka Kinoshita, Seiji Fukumoto
Phosphate plays essential roles in many biological processes, and the serum phosphate level is tightly controlled. Chronic hypophosphatemia causes impaired mineralization of the bone matrix and results in rickets and osteomalacia. Fibroblast growth factor 23 (FGF23) is a bone-derived hormone that regulates phosphate metabolism. FGF23 excess induces hypophosphatemia via impaired phosphate reabsorption in the renal proximal tubules and decreased phosphate absorption in the intestines. There are several types of genetic and acquired form of FGF23-related hypophosphatemic diseases...
January 26, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29360619/hypophosphatasia-biochemical-hallmarks-validate-the-expanded-pediatric-clinical-nosology
#14
Michael P Whyte, Stephen P Coburn, Lawrence M Ryan, Karen L Ericson, Fan Zhang
Hypophosphatasia (HPP) is the inborn-error-of-metabolism due to loss-of-function mutation(s) of the ALPL (TNSALP) gene that encodes the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP). TNSALP represents a family of cell-surface phosphohydrolases differing by post-translational modification that is expressed especially in the skeleton, liver, kidney, and developing teeth. Thus, the natural substrates of TNSALP accumulate extracellularly in HPP including inorganic pyrophosphate (PPi), a potent inhibitor of mineralization, and pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B6...
January 19, 2018: Bone
https://www.readbyqxmd.com/read/29354161/atypical-femur-fractures-a-distinctive-tract-of-adult-hypophosphatasia
#15
REVIEW
Francesca Marini, Maria Luisa Brandi
Hypophosphatasia (HPP) is a congenital, rare and heterogeneous bone disorder, characterized by a deficit of calcified tissue mineralization, leading to skeletal deformities and osteomalacia in adults, rickets in infants and children, and fragility fractures and premature loss of dentition in children and adults. The disease is caused by a reduced or absent expression and activity of the tissue non-specific alkaline phosphatase (TNSALP) enzyme, derived from inactivating mutations of the alkaline phosphatase (ALPL) gene...
September 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/29344330/developments-in-rare-bone-diseases-and-mineral-disorders
#16
REVIEW
Siobhan Bacon, Rachel Crowley
In the last decade, there have been a number of significant advances made in the field of rare bone diseases. In this review, we discuss the expansion of the classification system for osteogenesis imperfecta (OI) and the resultant increase in therapeutic options available for management of OI. Bisphosphonates remain the most widely used intervention for OI, although the effect on fracture rate reduction is equivocal. We review the other therapies showing promising results, including denosumab, teriparatide, sclerostin, transforming growth factor β inhibition and gene targeted approaches...
January 2018: Therapeutic Advances in Chronic Disease
https://www.readbyqxmd.com/read/29302503/celiac-disease-in-south-jordan
#17
Eyad Altamimi
Purpose: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. Methods: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015...
December 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29297597/validation-of-a-novel-scoring-system-for-changes-in-skeletal-manifestations-of-hypophosphatasia-in-newborns-infants-and-children-the-radiographic-global-impression-of-change-scale
#18
Michael P Whyte, Kenji P Fujita, Scott Moseley, David D Thompson, William H McAlister
Hypophosphatasia (HPP) is the heritable metabolic disease characterized by impaired skeletal mineralization due to low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Although HPP during growth often manifests with distinctive radiographic skeletal features, no validated method was available to quantify them, including changes over time. We created the Radiographic Global Impression of Change (RGI-C) scale to assess changes in the skeletal burden of pediatric HPP. Site-specific pairs of radiographs of newborns, infants, and children with HPP from 3 clinical studies of asfotase alfa, an enzyme replacement therapy for HPP, were obtained at Baseline and during treatment...
January 3, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29282177/vitamin-d-deficiency-and-atopic-dermatitis-consider-disease-race-and-body-mass
#19
Kavita Darji, Courtney Tobin, Zachary T Bryan, Mathew Jansenn, Eric Armbrecht, Elaine Siegfried
Vitamin D deficiency causes rickets, but has been associated with various diseases, including atopic dermatitis (AD). This study analyzes serum vitamin D in pediatric medical center patients with AD and potential confounding factors. At Cardinal Glennon Children's Hospital, charts of 665 children with serum 25-hydroxyvitamin D levels taken between 2009 and 2013 were retrospectively reviewed. Defining vitamin D deficiency as <20 ng/mL, neither average 25-hydroxyvitamin D nor deficiency prevalence varied among disease groups, except for cystic fibrosis (CF), which demonstrated significantly higher average vitamin D and lower deficiency prevalence...
2017: Skinmed
https://www.readbyqxmd.com/read/29280738/genetic-causes-of-rickets
#20
Sezer Acar, Korcan Demir, Yufei Shi
Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B)...
December 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
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