نتایج جستجو برای: 3849

تعداد نتایج: 83  

2018
Cynthia Lucero-Obusan Patricia L Schirmer Aaron Wendelboe Gina Oda Mark Holodniy

We describe influenza activity in the US Veterans Affairs (VA) population for the 2010-2011 through 2015-2016 seasons and compare with national CDC FluView data. VA confirmed influenza cases ranged from 1005 to 11 506 per season; triage calls from 6090 to 10 346; outpatient visits from 3849 to 13 406; antiviral prescriptions from 3650 to 32 826; hospitalizations from 546 to 4673; and deaths in ...

Journal: :Revista do Hospital das Clinicas 2003
Luiz Vicente Ferreira da Silva Filho Maria Helena de Carvalho Ferreira Bussamra Cleyde Miriam Aversa Nakaie Fabíola Villac Adde Joaquim Carlos Rodrigues Salmo Raskin Tatiana Rozov

Cystic fibrosis is a genetic disease usually diagnosed by abnormal sweat testing. We report a case of an 18-year-old female with bronchiectasis, chronic P. aeruginosa infection, and normal sweat chloride concentrations who experienced rapid decrease of lung function and clinical deterioration despite treatment. Given the high suspicion of cystic fibrosis, broad genotyping testing was performed,...

Journal: :Journal of medical genetics 1998
A Gilfillan J P Warner J M Kirk T Marshall A Greening L P Ho T Hargreave B Stack D McIntyre R Davidson J C Dean W Middleton D J Brock

Only three mutant cystic fibrosis (CF) alleles have to date been established as conferring a dominant mild effect on affected subjects who are compound heterozygotes. We now add a fourth, P67L, which occurs on about 1.4% of Scottish CF chromosomes. Among 13 patients (12 unrelated) with this allele, the average age at diagnosis was 22.5 +/- 11.3 years. None of the cases had consistently raised s...

2015
Taha Resid Ozdemir Ali Kanik

Cystic Fibrosis is an autosomal recessive disorder, which is caused by mutations in CFTR gene on chromosome 7q31.2. The prevalence of CF is approximately 1 in 2500 in Caucasians. In other populations, it has been seen less frequently. Characteristic features include chronic pulmonary disease, pancreatic exocrine insuf-ficiency and secretory systems such as gastro-intestinal and reproductive sys...

Journal: :Journal of medical genetics 2008
F Stanke M Ballmann I Bronsveld T Dörk S Gallati U Laabs N Derichs M Ritzka H-G Posselt H K Harms M Griese H Blau G Mastella J Bijman H Veeze B Tümmler

BACKGROUND Knowledge of how CFTR mutations other than F508del translate into the basic defect in cystic fibrosis (CF) is scarce due to the low incidence of homozygous index cases. METHODS 17 individuals who are homozygous for deletions, missense, stop or splice site mutations in the CFTR gene were investigated for clinical symptoms of CF and assessed in CFTR function by sweat test, nasal pote...

Journal: :EMBO reports 2004
Malka Nissim-Rafinia Micha Aviram Scott H Randell Liat Shushi Efrat Ozeri Ornit Chiba-Falek Ofer Eidelman Harvey B Pollard James R Yankaskas Batsheva Kerem

A significant fraction of disease-causing mutations affects pre-mRNA splicing. These mutations can generate both aberrant and correct transcripts, the level of which varies among different patients. An inverse correlation was found between this level and disease severity, suggesting a role for splicing regulation as a genetic modifier. Overexpression of splicing factors increased the level of c...

Journal: :Physical review. E 2017
Kevin Roth Flaviano Morone Byungjoon Min Hernán A Makse

A model of interdependent networks of networks (NONs) was introduced recently [Proc. Natl. Acad. Sci. (USA) 114, 3849 (2017)PNASA60027-842410.1073/pnas.1620808114] in the context of brain activation to identify the neural collective influencers in the brain NON. Here we investigate the emergence of robustness in such a model, and we develop an approach to derive an exact expression for the rand...

Journal: :Iranian journal of biotechnology 2016
Maryam Mirzaei Behnaz Saffar Behzad Shareghi

BACKGROUND Phytate is an anti-nutritional factor in plants, which catches the most phosphorus contents and some vital minerals. Therefore, Phytase is added mainly as an additive to the monogastric animals' foods to hydrolyze phytate and increase absorption of phosphorus. OBJECTIVES Y. intermedia phytase is a new phytase with special characteristics such as high specific activity, pH stability...

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