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  • Cystic Fibrosis - Diagnosis - NHLBI, NIH
    Sweat chloride test results for diagnosing cystic fibrosis The table shows how much chloride in a person’s sweat sample must be present in order to determine whether the diagnosis for cystic fibrosis is positive, unclear, or unlikely A chloride level of 60 millimoles per liter (mmol L) or greater indicates cystic fibrosis
  • Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and . . .
    Abstract Identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its numerous variants opened the way to fantastic breakthroughs in diagnosis, research and treatment of cystic fibrosis (CF) The current and future challenges of molecular diagnosis of CF and CFTR-related disorders and of genetic counseling are here reviewed
  • Cystic Fibrosis Imaging - Medscape
    The diagnosis of cystic fibrosis is based on compatible clinical findings, with biochemical or genetic confirmation So far, the sweat chloride test is the mainstay of laboratory confirmation However, CF is a complex syndrome, and the clinical manifestations are sometimes subtle
  • Diagnostic Testing - Johns Hopkins Cystic Fibrosis Center
    Cystic fibrosis is caused by abnormalities in salt transport into and out of cells due to a defective CFTR protein This chloride channel regulates the salt content in the fluid that covers cell surfaces in the nose and lungs Transport of ions such as sodium and chloride creates an electrical potential difference across the airway lining
  • Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic . . .
    Even in the presence of a positive sweat test, the identification of 2 CF-causing mutations should be confirmed in a clinical genetics laboratory capable of performing in-depth genetic analysis when required to further define CF risk (eg, the length of polyT tracts with the c 350G>A [legacy: R117H] CFTR mutation) 54,55 Confirmation of genetic
  • Multisystem Imaging Findings of Cystic Fibrosis in Adults . . . - AJR
    OBJECTIVE There is an expanding and increasingly heterogeneous population of adult patients with cystic fibrosis (CF) Although CF is usually diagnosed in children with progressive multisystem involvement, up to 7% of CF cases are currently diagnosed de novo in adults with subtle manifestations distinct from the typical features of classic CF The purpose of this article is to present the
  • Diagnosis of cystic fibrosis - Cystic Fibrosis - NCBI Bookshelf
    Today, most people with cystic fibrosis will be diagnosed at birth as part of the national Newborn Screening Programme using the blood spot immunoreactive trypsin test Screening was introduced UK-wide in 2006 and so there remains a cohort of young people and adults with cystic fibrosis who have not been screened and yet have been diagnosed through a clinical assessment Although highly
  • Laboratory tests for the diagnosis of cystic fibrosis - PubMed
    Cystic fibrosis (CF) remains the most common life-limiting inherited disease in America Making an accurate, early diagnosis is essential to the management of the disease The diagnostic criteria for CF require the presence of 1 or more typical clinical features, a family history of CF, or a positiv …
  • Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular . . .
    Cystic fibrosis (CF) is an autosomal recessive disease with significant associated morbidity and mortality It is now appreciated that the broad phenotypic CF spectrum is not explained by obvious genotype-phenotype correlations, suggesting that CF transmembrane conductance regulator (CFTR)–related disease may occur because of multiple additive effects
  • Laboratory diagnosis of cystic fibrosis - Pathology
    So ‘diagnosis’ is a clinical interpretation of available clinical, organ imaging and laboratory data Laboratories need to understand the robustness of the information provided and therefore its power to support the deduction of the health professional Several other ways of testing for cystic fibrosis have been developed, but there are





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