Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children.

Abstract:

:The incidence of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in children with intermediate sweat chloride levels is unknown. The results of 2,349 sweat tests performed at two Belgian university hospitals were reviewed. Intermediate chloride concentrations were observed in 98 subjects (4.2%), 68 being younger than 18 years of age. Forty-three children could be traced and their parents agreed to take part in the study. Exhaustive analysis of the CFTR gene disclosed a total of 24 putative mutations (27.9%). Three subjects were found to carry only one CFTR mutation, whereas 10 harbored one mutation on both CFTR genes. These 10 children were investigated in detail. At the time of writing, the mean age (+/-SD) of this group is 8.9 years (+/-4.2 years). Nine children are pancreatic sufficient. Three have been asymptomatic for more than two years, whereas the others display, to different degrees, clinical features suggestive of CF. The sweat chloride concentration is slightly higher in this group (39.4 +/- 5.4 mM) than in subjects without CFTR mutation (35.2 +/- 4.4 mM, p < 0.05). The nasal potential difference was abnormal in five of the nine subjects tested. In this study, 23% of children displaying intermediate sweat chloride levels were found to carry a putative mutation on both CFTR genes.

authors

Lebecque P,Leal T,De Boeck C,Jaspers M,Cuppens H,Cassiman JJ

doi

10.1164/ajrccm.165.6.2104073

keywords:

subject

Has Abstract

pub_date

2002-03-15 00:00:00

pages

757-61

issue

6

eissn

1073-449X

issn

1535-4970

journal_volume

165

pub_type

杂志文章,多中心研究
  • Micro-Computed Tomography Comparison of Preterminal Bronchioles in Centrilobular and Panlobular Emphysema.

    abstract:RATIONALE:Very little is known about airways that are too small to be visible on thoracic multidetector computed tomography but larger than the terminal bronchioles. OBJECTIVES:To examine the structure of preterminal bronchioles located one generation proximal to terminal bronchioles in centrilobular and panlobular em...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.201602-0278OC

    authors: Tanabe N,Vasilescu DM,McDonough JE,Kinose D,Suzuki M,Cooper JD,Paré PD,Hogg JC

    更新日期:2017-03-01 00:00:00

  • Predictors of Pneumocystis carinii pneumonia in HIV-infected persons. Pulmonary Complications of HIV Infection Study Group.

    abstract::The Pulmonary Complications of HIV Infection Study is a prospective, multicenter, observational study evaluating pulmonary disease among HIV-infected persons. For approximately 52 mo, 1,182 HIV-infected subjects were followed. All participants were evaluated for pulmonary disease on a predetermined schedule. There wer...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章,多中心研究

    doi:10.1164/ajrccm.155.1.9001290

    authors: Stansell JD,Osmond DH,Charlebois E,LaVange L,Wallace JM,Alexander BV,Glassroth J,Kvale PA,Rosen MJ,Reichman LB,Turner JR,Hopewell PC

    更新日期:1997-01-01 00:00:00

  • Noncommunicable Lung Disease in Sub-Saharan Africa. A Community-based Cross-Sectional Study of Adults in Urban Malawi.

    abstract:RATIONALE:Noncommunicable diseases are major causes of morbidity and mortality in sub-Saharan Africa (sSA). Valid burden of disease estimates are lacking for noncommunicable lung disease in sSA. OBJECTIVES:We performed a community-based survey to determine the prevalence of chronic lung disease among adults 18 years o...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.201509-1807OC

    authors: Meghji J,Nadeau G,Davis KJ,Wang D,Nyirenda MJ,Gordon SB,Mortimer K

    更新日期:2016-07-01 00:00:00

  • Cytokines involved in the systemic inflammatory response induced by exposure to particulate matter air pollutants (PM(10)).

    abstract::Elevated levels of ambient particulate matter (PM(10)) have been associated with increased cardiopulmonary morbidity and mortality. We previously showed that the deposition of particles in the lung induces a systemic inflammatory response that includes stimulation of the bone marrow. This marrow response is related to...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/ajrccm.164.5.2010160

    authors: van Eeden SF,Tan WC,Suwa T,Mukae H,Terashima T,Fujii T,Qui D,Vincent R,Hogg JC

    更新日期:2001-09-01 00:00:00

  • Inhaled corticosteroid use in chronic obstructive pulmonary disease and the risk of hospitalization for pneumonia.

    abstract:RATIONALE:Inhaled corticosteroids are commonly prescribed to patients with chronic obstructive pulmonary disease (COPD). OBJECTIVES:To examine whether these medications might be associated with an excess risk of pneumonia. METHODS:We conducted a nested case-control study within a cohort of patients with COPD from Que...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.200611-1630OC

    authors: Ernst P,Gonzalez AV,Brassard P,Suissa S

    更新日期:2007-07-15 00:00:00

  • Procedural skills of practicing pulmonologists. A national survey of 1,000 members of the American College of Physicians.

    abstract::We surveyed pulmonologists to determine which procedures they do in practice, where they learned the procedures, and how much training they recommend to attain and maintain clinical competence in each. We mailed a survey to a random sample of 1,000 members of the American College of Physicians who were identified as p...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/ajrccm.151.2.7842180

    authors: Tape TG,Blank LL,Wigton RS

    更新日期:1995-02-01 00:00:00

  • Obstructive Sleep Apnea and Retinopathy in Patients with Type 2 Diabetes. A Longitudinal Study.

    abstract:RATIONALE:Obstructive sleep apnea (OSA) is associated with several pathophysiological deficits found in diabetic retinopathy (DR). Hence, it's plausible that OSA could play a role in the pathogenesis of sight-threatening DR (STDR). OBJECTIVES:To assess the relationship between OSA and DR in patients with type 2 diabet...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.201701-0175OC

    authors: Altaf QA,Dodson P,Ali A,Raymond NT,Wharton H,Fellows H,Hampshire-Bancroft R,Shah M,Shepherd E,Miah J,Barnett AH,Tahrani AA

    更新日期:2017-10-01 00:00:00

  • Use of exhaled nitric oxide measurement to identify a reactive, at-risk phenotype among patients with asthma.

    abstract:RATIONALE:Exhaled nitric oxide (Fe(NO)) is a biomarker of airway inflammation in mild to moderate asthma. However, whether Fe(NO) levels are informative regarding airway inflammation in patients with severe asthma, who are refractory to conventional treatment, is unknown. Here, we hypothesized that classification of se...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.200905-0695OC

    authors: Dweik RA,Sorkness RL,Wenzel S,Hammel J,Curran-Everett D,Comhair SA,Bleecker E,Busse W,Calhoun WJ,Castro M,Chung KF,Israel E,Jarjour N,Moore W,Peters S,Teague G,Gaston B,Erzurum SC,National Heart, Lung, and Blood Insti

    更新日期:2010-05-15 00:00:00

  • Excessive fibrin deposition in nasal polyps caused by fibrinolytic impairment through reduction of tissue plasminogen activator expression.

    abstract:RATIONALE:Nasal polyps (NPs) are characterized by intense edema or formation of pseudocysts filled with plasma proteins, mainly albumin. However, the mechanisms underlying NP retention of plasma proteins in their submucosa remain unclear. OBJECTIVES:We hypothesized that formation of a fibrin mesh retains plasma protei...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.201207-1292OC

    authors: Takabayashi T,Kato A,Peters AT,Hulse KE,Suh LA,Carter R,Norton J,Grammer LC,Cho SH,Tan BK,Chandra RK,Conley DB,Kern RC,Fujieda S,Schleimer RP

    更新日期:2013-01-01 00:00:00

  • Obstructive sleep apnea syndrome. fifty-one consecutive patients treated by maxillofacial surgery.

    abstract::The place of surgical treatment in obstructive sleep apnea syndrome (OSAS) remains unclear. Uvulopalatopharyngoplasty (UPPP) has a response rate of 41% overall and only 5% when retrolingual narrowing is present. Thus, in cases with suspected hypopharyngeal collapse maxillofacial surgery has been proposed with improved...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/ajrccm.162.2.9904058

    authors: Bettega G,Pépin JL,Veale D,Deschaux C,Raphaël B,Lévy P

    更新日期:2000-08-01 00:00:00

  • Plasma leptin is related to proinflammatory status and dietary intake in patients with chronic obstructive pulmonary disease.

    abstract::Chronic obstructive pulmonary disease (COPD) is a syndrome of chronic wasting, in part associated with a chronic inflammatory response. The aim of this study was to investigate cross-sectionally and prospectively the potential role of leptin in relation to systemic inflammation in the regulation of the energy balance ...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/ajrccm.160.4.9811033

    authors: Schols AM,Creutzberg EC,Buurman WA,Campfield LA,Saris WH,Wouters EF

    更新日期:1999-10-01 00:00:00

  • Clinical, echocardiographic, and hemodynamic evidence of cardiac tamponade caused by large pleural effusions.

    abstract::Large pleural effusions are typically associated with dyspnea and potential respiratory compromise. Experimental evidence suggests that with large effusions, increased intrapleural pressure may be transmitted to the pericardial space, resulting in impaired cardiac filling and reduced stroke volume. We report two cases...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/ajrccm/151.3_Pt_1.904

    authors: Kaplan LM,Epstein SK,Schwartz SL,Cao QL,Pandian NG

    更新日期:1995-03-01 00:00:00

  • Oleic acid inhibits alveolar fluid reabsorption: a role in acute respiratory distress syndrome?

    abstract::Levels of oleic acid (OA) are elevated in plasma and bronchoalveolar lavage fluids of patients with acute respiratory distress syndrome (ARDS). OA is also widely used to provoke edema, by unknown mechanisms, in experimental models of ARDS. We investigated the impact of intravascularly applied OA on epithelial lining f...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.200407-954OC

    authors: Vadász I,Morty RE,Kohstall MG,Olschewski A,Grimminger F,Seeger W,Ghofrani HA

    更新日期:2005-03-01 00:00:00

  • Prognostic significance of histopathologic subsets in idiopathic pulmonary fibrosis.

    abstract::Idiopathic pulmonary fibrosis (IPF) is a generally fatal disorder with a reported median survival of 3 to 6 yr. This has been based on relatively few studies with diagnoses inconsistently confirmed by adequate lung biopsy. Retrospective analysis of 104 patients with IPF who had open lung biopsy (OLB) at Mayo Medical C...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/ajrccm.157.1.9704130

    authors: Bjoraker JA,Ryu JH,Edwin MK,Myers JL,Tazelaar HD,Schroeder DR,Offord KP

    更新日期:1998-01-01 00:00:00

  • Evaluating UK National Guidance for Screening of Children for Tuberculosis. A Prospective Multicenter Study.

    abstract:RATIONALE:To identify infected contacts of tuberculosis (TB) cases, the UK National Institute for Health and Care Excellence (NICE) recommended the addition of IFN-γ release assays (IGRA) to the tuberculin skin test (TST) in its 2006 TB guidelines. Treatment for TB infection was no longer recommended for children who s...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章,多中心研究

    doi:10.1164/rccm.201707-1487OC

    authors: Kampmann B,Seddon JA,Paton J,Nademi Z,Keane D,Williams B,Williams A,Liebeschutz S,Riddell A,Bernatoniene J,Patel S,Martinez N,McMaster P,Basu-Roy R,Welch SB

    更新日期:2018-04-15 00:00:00

  • Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR.

    abstract:RATIONALE:Tezacaftor (formerly VX-661) is an investigational small molecule that improves processing and trafficking of the cystic fibrosis transmembrane conductance regulator (CFTR) in vitro, and improves CFTR function alone and in combination with ivacaftor. OBJECTIVES:To evaluate the safety and efficacy of tezacaft...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1164/rccm.201704-0717OC

    authors: Donaldson SH,Pilewski JM,Griese M,Cooke J,Viswanathan L,Tullis E,Davies JC,Lekstrom-Himes JA,Wang LT,VX11-661-101 Study Group.

    更新日期:2018-01-15 00:00:00

  • Predictors of outcome and long-term survival in patients with pleural infection.

    abstract::In pleural infection, medical treatment failure (chest-tube drainage and antibiotics) requires surgery and increases mortality. It would be helpful to predict which patients will fail this approach. We examined clinical predictors in 85 consecutive patients with pleural infection receiving chest drainage and intrapleu...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/ajrccm.160.5.9903002

    authors: Davies CW,Kearney SE,Gleeson FV,Davies RJ

    更新日期:1999-11-01 00:00:00

  • Risk assessment of tuberculosis in immunocompromised patients. A TBNET study.

    abstract:RATIONALE:In the absence of active tuberculosis, a positive tuberculin skin test (TST) or interferon-γ release assay (IGRA) result defines latent infection with Mycobacterium tuberculosis, although test results may vary depending on immunodeficiency. OBJECTIVES:This study compared the performance of TST and IGRAs in f...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.201405-0967OC

    authors: Sester M,van Leth F,Bruchfeld J,Bumbacea D,Cirillo DM,Dilektasli AG,Domínguez J,Duarte R,Ernst M,Eyuboglu FO,Gerogianni I,Girardi E,Goletti D,Janssens JP,Julander I,Lange B,Latorre I,Losi M,Markova R,Matteelli A,M

    更新日期:2014-11-15 00:00:00

  • The early bactericidal activity of isoniazid related to its dose size in pulmonary tuberculosis.

    abstract::Collections of sputum from 105 patients with newly diagnosed pulmonary tuberculosis were made before and at 1 and 2 d after the start of chemotherapy with isoniazid (INH) alone given to groups of patients in doses of 600 mg, 300 mg, 150 mg, 75 mg, 37.5 mg, 18.75 mg, and 9 mg daily, as well as from an untreated group. ...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1164/ajrccm.156.3.9609132

    authors: Donald PR,Sirgel FA,Botha FJ,Seifart HI,Parkin DP,Vandenplas ML,Van de Wal BW,Maritz JS,Mitchison DA

    更新日期:1997-09-01 00:00:00

  • Specific CD8 T cells in IgE-mediated allergy correlate with allergen dose and allergic phenotype.

    abstract:RATIONALE:Studies in humans and rodents have indicated a causative role for CD8(+) T cells in IgE-mediated allergic inflammation, but their function is still controversial. OBJECTIVES:To analyze the role of allergen-specific CD8(+) T cells during the development of allergic airway inflammation in two parallel but dive...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.200902-0190OC

    authors: Aguilar-Pimentel JA,Alessandrini F,Huster KM,Jakob T,Schulz H,Behrendt H,Ring J,de Angelis MH,Busch DH,Mempel M,Ollert M

    更新日期:2010-01-01 00:00:00

  • On the Neuroendocrinopathy of Critical Illness. Perspectives for Feeding and Novel Treatments.

    abstract::Typical for critical illnesses are substantial alterations within the hypothalamic-anterior pituitary-peripheral hormonal axes that are proportionate to the risk of poor outcome. These neuroendocrine responses to critical illness follow a biphasic pattern. The acute phase (first hours to days) is characterized by an i...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章,评审

    doi:10.1164/rccm.201607-1516CI

    authors: Van den Berghe G

    更新日期:2016-12-01 00:00:00

  • Noninvasive saliva-based EGFR gene mutation detection in patients with lung cancer.

    abstract:RATIONALE:Constitutive activation of the epidermal growth factor receptor (EGFR) is prevalent in epithelial cancers, particularly in non-small cell lung carcinoma (NSCLC). Mutations identified in EGFR predict the sensitivity to EGFR-targeted therapy. Detection of these mutations is mainly based on tissue biopsy, which ...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章,随机对照试验

    doi:10.1164/rccm.201406-1003OC

    authors: Wei F,Lin CC,Joon A,Feng Z,Troche G,Lira ME,Chia D,Mao M,Ho CL,Su WC,Wong DT

    更新日期:2014-11-15 00:00:00

  • Dissociation between airway inflammation and airway hyperresponsiveness in allergic asthma.

    abstract::In asthma, the acute increment of airway responsiveness caused by exposure to allergen is associated with influx of eosinophils into the airways. The relationship between chronic airway hyperresponsiveness and airway inflammation is unclear, as they do not change consistently following long-term anti-inflammatory trea...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/ajrccm.157.1.9703002

    authors: Crimi E,Spanevello A,Neri M,Ind PW,Rossi GA,Brusasco V

    更新日期:1998-01-01 00:00:00

  • Aerosol delivery from a metered-dose inhaler during mechanical ventilation. An in vitro model.

    abstract::Successful bronchodilator therapy with a metered-dose inhaler (MDI) in intubated, mechanically ventilated patients requires adequate delivery of aerosol to the lower respiratory tract. We determined the effect of ventilator mode, inspiratory flow pattern, humidity, and spontaneous respiratory effort on albuterol deliv...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/ajrccm.154.2.8756810

    authors: Fink JB,Dhand R,Duarte AG,Jenne JW,Tobin MJ

    更新日期:1996-08-01 00:00:00

  • Circulating Cell Death Biomarkers May Predict Survival in Human Lung Transplantation.

    abstract:RATIONALE:Immediate graft performance after lung transplantation is associated with short- and long-term clinical outcomes. However, the biologic mechanism that determines outcomes is not fully understood. OBJECTIVES:To investigate the impact of cell death signals at 24 and 48 hours after lung transplantation on short...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.201510-2115OC

    authors: Hashimoto K,Besla R,Zamel R,Juvet S,Kim H,Azad S,Waddell TK,Cypel M,Liu M,Keshavjee S

    更新日期:2016-07-01 00:00:00

  • Evidence for multiple genetic susceptibility loci for asthma.

    abstract::Genetic susceptibility to asthma is due to multiple genes that interact with each other and the environment. There are many known environmental influences, such as viral and other respiratory infections and exposure to allergens, air pollutants, and active or passive cigarette smoke (1). Genome-wide screens for asthma...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章,多中心研究,评审

    doi:10.1164/ajrccm.156.4.12tac7

    authors: Bleecker ER,Postma DS,Meyers DA

    更新日期:1997-10-01 00:00:00

  • Circulating histones are mediators of trauma-associated lung injury.

    abstract:RATIONALE:Acute lung injury is a common complication after severe trauma, which predisposes patients to multiple organ failure. This syndrome largely accounts for the late mortality that arises and despite many theories, the pathological mechanism is not fully understood. Discovery of histone-induced toxicity in mice p...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.201206-1037OC

    authors: Abrams ST,Zhang N,Manson J,Liu T,Dart C,Baluwa F,Wang SS,Brohi K,Kipar A,Yu W,Wang G,Toh CH

    更新日期:2013-01-15 00:00:00

  • Protective effect of 3-aminobenzamide, an inhibitor of poly (ADP-ribose) synthetase, against laryngeal injury in rats.

    abstract::The effect of 3-aminobenzamide, an inhibitor of poly (ADP-ribose) synthetase activity, was evaluated in a rat model of laryngeal injury induced by endotracheal intubation for 1 h. At 1 h after extubation, the laryngeal damage was characterized by areas of mucosal necrosis, submucosal edema, swelling of subglottic glan...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/ajrccm.160.5.9902024

    authors: Stern Y,Salzman A,Cotton RT,Zingarelli B

    更新日期:1999-11-01 00:00:00

  • Lung function, bronchial responsiveness, and asthma in a community cohort of 6-year-old children.

    abstract:KEYWORDS:Children as young as 6 years old can perform spirometry, yet the relationship between current asthma, lung function, and bronchial responsiveness has not been described at this age; 2,537 children from a community-based birth cohort were assessed at 6 years of age, with history (n = 2,141), physical examinatio...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/rccm.200304-556OC

    authors: Joseph-Bowen J,de Klerk NH,Firth MJ,Kendall GE,Holt PG,Sly PD

    更新日期:2004-04-01 00:00:00

  • Antituberculosis drug-induced hepatotoxicity. The role of hepatitis C virus and the human immunodeficiency virus.

    abstract::Until recently it was thought that age greater than 35 yr was the main risk factor for the development of drug-induced hepatitis (DIH) in patients receiving antituberculosis therapy. We conducted a study to determine whether infection with either the hepatitis C virus or the human immunodeficiency virus (HIV) were sig...

    journal_title:American journal of respiratory and critical care medicine

    pub_type: 杂志文章

    doi:10.1164/ajrccm.157.6.9711039

    authors: Ungo JR,Jones D,Ashkin D,Hollender ES,Bernstein D,Albanese AP,Pitchenik AE

    更新日期:1998-06-01 00:00:00