نتایج جستجو برای: hypophosphatemic rickets

تعداد نتایج: 5798  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1976
E M Eicher J L Southard C R Scriver F H Glorieux

A new dominant mutation in the laboratory mouse, hypophosphatemia (gene symbol Hyp), has been identified. The Hyp gene is located on the X-chromosome and maps at the distal end. Mutant mice are characterized by hypophosphatemia, bone changes resembling rickets, diminished bone ash, dwarfism, and high fractional excretion of phosphate anion (low net tubular reabsorption). Phosphate supplementati...

Journal: :Journal of musculoskeletal & neuronal interactions 2005
S T Tournis P V Giannikou I N Paspati E A Katsalira I C Voskaki G P Lyritis

X-linked hypophosphatemic rickets (XLH) is a dominant disorder characterized by hypophosphatemia due to impaired renal tubular reabsorption of inorganic phosphate. Cardinal manifestations include defective calcification of cartilage and bone, growth retardation and resistance to phosphorus and vitamin D therapy. Although secondary hyperparathyroidism (HPT) is a common complication of treatment,...

Journal: :PLoS Medicine 2006
Jose Luis Portero Maria Rubio

Bill Anderson Escobar et al.’s discussion of medically unexplained physical symptoms is useful, and could trigger a renewal of how the medical profession works [1]. We are in transition at the present, and what we have been trained for is less and less relevant. This disjunction between our training and practise has given rise to a generation of unhappy doctors. The traditional “doctor” dealt w...

2012
Aoife Howard Michael O’Donoghue Audrey Feeney Roy D. Sleator

Acinetobacter baumannii is an opportunistic bacterial pathogen primarily associated with hospital-acquired infections. The recent increase in incidence, largely associated with infected combat troops returning from conflict zones, coupled with a dramatic increase in the incidence of multidrug-resistant (MDR) strains, has significantly raised the profile of this emerging opportunistic pathogen. ...

Journal: :Journal of Pediatric Endocrinology and Metabolism 2021

Abstract Objectives X-linked hypophosphatemic rickets (XLH) is a congenital fibroblast growth factor (FGF)23-related metabolic bone disease that treated with active vitamin D and phosphate as conventional therapies. Complications of these therapies include nephrocalcinosis (NC) caused by excessive urine calcium concentrations. Recently, an anti-FGF23 antibody, burosumab, was developed reported ...

2014
Sang-Heon Song Hanna Lee Ji-Min Jeong Woo-In Cho Sung Eun Kim Hae-Ryong Song

The aim of this study was to find out the ideal cut-off level of phosphate for safe healing when deformity correction and concomitant lengthening are indicated in the two different skeletal maturity groups of patients with rickets. Thirty-nine hypophosphatemic rickets patients were selected for the study and were divided into two groups: 27 skeletally immature (group IM) and 12 skeletally matur...

Journal: :Endocrines 2022

Since phosphate is indispensable for skeletal mineralization, chronic hypophosphatemia causes rickets and osteomalacia. Fibroblast growth factor 23 (FGF23), which mainly produced by osteocytes in bone, functions as the central regulator of metabolism increasing renal excretion suppressing production 1,25-dihydroxyvitamin D. The excessive action FGF23 results hypophosphatemic diseases, include a...

Journal: :The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease 2013
M Gegia H E Jenkins I Kalandadze J Furin

BACKGROUND Drug-resistant tuberculosis (DR-TB) is a major public threat in countries of the former Soviet Union, including Georgia. There are few studies of pediatric DR-TB cases, especially at a national level. OBJECTIVE To report the characteristics and treatment outcomes of pediatric multidrug-resistant TB (MDR-TB) cases in Georgia. METHODS We extracted data on all pediatric (age <16 yea...

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