Top PDF The Need for Vigilance: The Case of a False-Negative Newborn Screen for Cystic Fibrosis
The Need for Vigilance: The Case of a False-Negative Newborn Screen for Cystic Fibrosis
... started its CF NBS program in March 2006. Minnesota uses an immunoreac- tive trypsinogen (IRT)/DNA-based test- ing program on a dried blood spot ob- tained from a newborn heel-stick procedure. Samples found to ...
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Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis
... CF screen positive infants seen at SickKids, aged 4 to 6 weeks (ie, confirmatory testing complete), were eligible to ...control: case ratio) included a random sample of mothers of infants in the population ...
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Parental Understanding of Newborn Screening for Cystic Fibrosis After a Negative Sweat-Test
... DEFINING LIFE: It seems as if each year at least one of my four children comes home from school with a science project in which he or she has to describe or define life. Over the years, I have felt reasonably comfortable ...
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Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene
... they need structured follow up at an appropriate facility (for some patients this may be the CF centre) and symptomatic ...In case of doubt about the diagnosis, a mutation scanning of the complete gene can ...
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Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis
... This study was designed intentionally to reflect real- life experiences in the CF clinic following a positive NBS, during which parents/carers are informed as to whether their infant has a diagnosis of CF or CRMS/ CFSPID ...
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False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use
... Associations between an FP CF NBS test and the outcomes were examined with conditional negative binomial regression models. Infant models included gestational age, length of hospital stay, month of birth, ...
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New York State Cystic Fibrosis Consortium: The First 2.5 Years of Experience With Cystic Fibrosis Newborn Screening in an Ethnically Diverse Population
... CF screen- ing panels “to distinguish the genotypes of R117H asso- ciated with CF and those associated with [congenital bilateral absence of the vas deferens]”; however, the 5/7/9T variant is not a reflex test in ...
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Newborn Screening for Cystic Fibrosis in New York State: In Reply
... a case without the need for a referral for a sweat ...high false-positive rate that we have experienced in New York State during the first 2 1 ⁄ 2 years of screening for ...
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Repeat administration of an adenovirus vector encoding cystic fibrosis transmembrane conductance regulator to the nasal epithelium of patients with cystic fibrosis
... Cystic fibrosis (CF) is a common autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator gene. Recombinant adenoviruses have shown promise as vectors for transfer of CF ...
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Pediatrics Digest
... Outcomes of Infants With Indeterminate Diagnosis Detected by Cystic Fibrosis Newborn Screening.. Little is known about the prevalence or outcomes of infants with indeterminate diagnostic[r] ...
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The importance of cholesterol medication adherence: the need for behavioral change intervention programs
... Primary care physicians and specialists have an important, yet largely unrealized, opportunity to promote medication adherence. Providers should assess their patients’ likely adherence, taking into account risk factors ...
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A framework for the regional critical zone classification: the case of the Chinese Loess Plateau
... CZ science is in its second decade of development [15]. There are still chal- lenges associated with further advance- ment related to the highly dynamic and heterogeneous nature of CZs, which re- quire interdisciplinary ...
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Negative Clinical Trials in Cystic Fibrosis Research
... The statistical power of 61 negative clinical trials of therapeutic regimens in patients with cystic fibrosis published from 1977 through 1988 was reviewed and the ability of the investi[r] ...
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Inconclusive Diagnosis of Cystic Fibrosis After Newborn Screening
... CFSPID → CF patients had signi fi cantly higher sweat chloride levels than did CFSPID → CFSPID subjects ( P , .0001) (Fig 3A).. Among those with abnormal sweat test levels, sweat chloride[r] ...
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The burden of cystic fibrosis in the Medicaid population
... Medicaid Multi-State administrative claims database) to examine the burden of the disease among patients with cystic fibrosis in the US Medicaid population (2010–2014). Patients aged ≥ 6 years were assessed ...
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Nanoparticles for the treatment of liver fibrosis
... There are many kinds of nanoparticulates for the treat- ment of liver fibrosis. Our review article classifies the nano- particulate systems based on their chemical structure and components. All the NP systems ...
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A plea for the understanding of the suicidal mind
... the need to achieve some goal such as joining a friend or a group of people, gaining autonomy, oppos- ing something, imposing on someone, and the needs to be accepted and understood and receive ...
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A case scenario study for the assessment of physician’s behavior in the management of COPD: the WHY study
... COPD: Case GOLD A-smoker and Case GOLD A-nonsmoker were previously undiagnosed patients presenting with dyspnea, Case GOLD D-smoker and GOLD B-exsmoker were COPD patients presenting with ...
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NonTuberculous Mycobacteria infection and lung transplantation in cystic fibrosis: a worldwide survey of clinical practice
... Our findings highlight the importance of further high- quality clinical research to comprehensively investigate the outcomes and international experience of patients with NTM after lung transplantation. Other key ques- ...
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Gender dysphoria in adolescents: the need for a shared assessment protocol and proposal of the AGIR protocol
... the case of false positives, thus causing damage, or choose not to intervene, and as a consequence not alleviate the suffering of transgender adolescents who actually need these ...
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