نتایج جستجو برای: familial hypophosphatemic rickets
تعداد نتایج: 58833 فیلتر نتایج به سال:
A man with hereditary hypophosphatemic rickets presented with seizures and coma. Brain MRI revealed edema typical of posterior reversible encephalopathy syndrome (PRES) and ECG showed ST elevations (figure). Coronary angiography was normal. Blood pressure was 165/90 mm Hg on admission; other known causes of PRES were absent. Severe hypercalcemia (3.83 mmol/L) was detected while parathyroid horm...
Human disorders of phosphate (Pi) handling and hypophosphatemic rickets have been shown to result from mutations in PHEX, FGF23, and DMP1, presenting as X-linked recessive, autosomal-dominant, and autosomal-recessive patterns, respectively. We present the identification of an inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene causing autosomal-recessiv...
Recent studies have changed the commonly held view that phosphate is mostly needed for normal skeletal growth and development. Extensive research in the last decade has identified numerous other essential dynamic functions for phosphate, ranging from signalling to energy metabolism. Abnormal phosphate homeostasis potentially affects functional activities of almost any organ system. Despite its ...
To understand use of tuberculosis (TB) services for migrant workers, we conducted a cross-sectional census of 95 migrant workers with TB from Armenia by using medical record reviews and face-to-face interviews. Prolonged time between diagnosis and treatment, treatment interruption, and treatment defaults caused by migrant work might increase the risk for multidrug-resistant TB.
The emergence and spread of colistin resistance among multidrug-resistant (MDR) Klebsiella pneumoniae represent a critical threat to global health. Here, we report the complete genome sequences of 10 MDR, colistin-susceptible and -resistant K. pneumoniae clinical isolates obtained in Pakistan between 2010 and 2013.
We conducted nationwide surveillance to investigate regional differences in macrolide-resistant (MR) Mycoplasma pneumoniae strains in Japan. The prevalence of MR M. pneumoniae in pediatric patients gradually increased between 2008 and 2012. Although regional differences were observed, high levels of MR genes were detected in all seven surveillance areas throughout Japan and ranged in prevalence...
Enterococci have become increasingly important nosocomial pathogens in many hospitals in the United States within the past few years. This is a result of an increased incidence of enterococci resistance to many antimicrobials. Drugs that were once the mainstay in the treatment of enterococci, including penicillins, aminoglycosides, and vancomycin, are no longer effective in many situations wher...
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