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1.
Eur Respir J ; 50(5)2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-29122914

RESUMO

With the advent of novel designer molecules for cystic fibrosis (CF) treatment, there is huge need for early-life clinical trial outcomes, such as infant lung function (ILF). We investigated the degree and tracking of ILF abnormality during the first 2 years of life in CF newborn screened infants.Forced expiratory volume in 0.5 s (FEV0.5), lung clearance index (LCI) and plethysmographic functional residual capacity were measured at ∼3 months, 1 year and 2 years in 62 infants with CF and 34 controls.By 2 years there was no significant difference in FEV0.5 z-score between CF and controls, whereas mean LCI z-score was 0.81 (95% CI 0.45-1.17) higher in CF. However, there was no significant association between LCI z-score at 2 years with either 3-month or 1-year results. Despite minimal average group changes in any ILF outcome during the second year of life, marked within-subject changes occurred. No child had abnormal LCI or FEV0.5 on all test occasions, precluding the ability to identify "high-risk" infants in early life.In conclusion, changes in lung function are mild and transient during the first 2 years of life in newborn screened infants with CF when managed according to a standardised UK treatment protocol. Their potential role in tracking disease to later childhood will be ascertained by ongoing follow-up.


Assuntos
Fibrose Cística/diagnóstico , Fibrose Cística/fisiopatologia , Pulmão/fisiopatologia , Triagem Neonatal , Estudos de Casos e Controles , Feminino , Volume Expiratório Forçado , Capacidade Residual Funcional , Humanos , Lactente , Recém-Nascido , Masculino , Análise de Regressão , Reino Unido
2.
J Genet Couns ; 25(6): 1215-1226, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27098418

RESUMO

The clinical advantages of the newborn screening programme (NBS) in the UK are well described in the literature. However, there has been little exploration of the psychosocial impact on the family. This study followed the principles of grounded theory to explore parents' experiences of receiving the initial positive NBS result for their child with cystic fibrosis (CF) or sickle cell disease (SCD). Semi-structured, qualitative interviews were conducted with 22 parents (12 mothers and 10 fathers) whose children had been diagnosed with CF or SCD via NBS and were under the age of 1 year at the time of interview. The main themes that arose from the data were; parents previous knowledge of the condition and the NBS programme, the method of delivery and parental reactions to the result, sharing the results with others, the impact on parental relationships and support strategies. Study conclusions indicate that most parents thought initial positive NBS results should be delivered by a health professional with condition specific knowledge, preferably with both parents present. Genetic counselling needs to include a focus on the impact of NBS results on parental relationships. Careful consideration needs to be given to strategies to support parents of babies who have positive NBS results both in terms of the psychological health and to assist them in sharing the diagnosis.


Assuntos
Anemia Falciforme/diagnóstico , Fibrose Cística/diagnóstico , Aconselhamento Genético , Pais/psicologia , Adaptação Psicológica , Adulto , Anemia Falciforme/genética , Fibrose Cística/genética , Feminino , Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Recém-Nascido , Masculino , Triagem Neonatal , Pais/educação , Inquéritos e Questionários
3.
Emerg Infect Dis ; 19(7): 1128-30, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23764198

RESUMO

Incidence of pulmonary infection with nontuberculous mycobacteria (NTM) is increasing among persons with cystic fibrosis (CF). We assessed prevalence and management in CF centers in the United Kingdom and found 5.0% of 3,805 adults and 3.3% of 3,317 children had recently been diagnosed with NTM. Of those, 44% of adults and 47% of children received treatment.


Assuntos
Fibrose Cística/epidemiologia , Complexo Mycobacterium avium , Infecção por Mycobacterium avium-intracellulare/epidemiologia , Adulto , Criança , Fibrose Cística/microbiologia , Humanos , Ambulatório Hospitalar , Prevalência , Inquéritos e Questionários , Reino Unido/epidemiologia
4.
Thorax ; 67(10): 874-81, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22752198

RESUMO

BACKGROUND: Long-term benefits of newborn screening (NBS) for cystic fibrosis (CF) have been established with respect to nutritional status, but effects on pulmonary health remain unclear. HYPOTHESIS: With early diagnosis and commencement of standardised treatment, lung function at ∼3 months of age is normal in NBS infants with CF. METHODS: Lung clearance index (LCI) and functional residual capacity (FRC) using multiple breath washout (MBW), plethysmographic (pleth) FRC and forced expirations from raised lung volumes were measured in 71 infants with CF (participants in the London CF Collaboration) and 54 contemporaneous healthy controls age ∼3 months. RESULTS: Compared with controls, and after adjustment for body size and age, LCI, FRC(MBW) and FRC(pleth) were significantly higher in infants with CF (mean difference (95% CI): 0.5 (0.1 to 0.9), p=0.02; 0.4 (0.1 to 0.7), p=0.02 and 0.9 (0.4 to 1.3), p<0.001, z-scores, respectively), while forced expiratory volume (FEV(0.5)) and flows (FEF(25-75)) were significantly lower (-0.9 (-1.3 to -0.6), p<0.001 and -0.7 (-1.1 to -0.2), p=0.004, z-scores, respectively). 21% (15/70) of infants with CF had an elevated LCI (>1.96 z-scores) and 25% (17/68) an abnormally low FEV(0.5) (below -1.96 z-scores). While only eight infants with CF had abnormalities of LCI and FEV(0.5), using both techniques identified abnormalities in 35% (24/68). Hyperinflation (FRC(pleth) >1.96 z-scores) was identified in 18% (10/56) of infants with CF and was significantly correlated with diminished FEF(25-75) (r=-0.43, p<0.001) but not with LCI or FEV(0.5). CONCLUSION: Despite early diagnosis of CF by NBS and protocol-driven treatment in specialist centres, abnormal lung function, with increased ventilation inhomogeneity and hyperinflation and diminished airway function, is evident in many infants with CF diagnosed through NBS by 3 months of age.


Assuntos
Fibrose Cística/diagnóstico , Fibrose Cística/fisiopatologia , Triagem Neonatal , Antropometria , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Diagnóstico Precoce , Feminino , Humanos , Lactente , Recém-Nascido , Modelos Lineares , Londres , Estudos Longitudinais , Masculino , Pletismografia , Prognóstico , Testes de Função Respiratória
5.
Vasc Endovascular Surg ; 43(3): 280-3, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19164301

RESUMO

INTRODUCTION: Port-a-cath insertion, for long-term intravenous antibiotic therapy, is an ideal solution for patient with cystic fibrosis. However, indwelling lines are liable to many complications including catheter thrombosis especially in patients having cystic fibrosis with hypercoagulable state. METHODS: An endovascular technique for insertion of a port-a-cath in a patient having cystic fibrosis with occluded superior vena cava is reported. The technique is described in detail. In addition, a review of literature for the various methods of saving a failed central venous access in these patients was performed. RESULTS: The line was successfully inserted and remained patent without need of any further intervention for 20 months. CONCLUSION: In this report, several endovascular skills were used for central venous access salvage that can be used in similar situations with chronic superior vena cava occlusion, which may not be suitable for thrombolysis or stenting.


Assuntos
Antibacterianos/administração & dosagem , Cateterismo Venoso Central/instrumentação , Cateteres de Demora , Fibrose Cística/tratamento farmacológico , Síndrome da Veia Cava Superior/complicações , Angioplastia com Balão/instrumentação , Fibrose Cística/complicações , Humanos , Masculino , Radiografia , Síndrome da Veia Cava Superior/diagnóstico por imagem , Síndrome da Veia Cava Superior/terapia , Ultrassonografia de Intervenção , Adulto Jovem
6.
Respir Med ; 142: 60-65, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30170803

RESUMO

BACKGROUND: Nutrition is closely related to mortality and pulmonary and respiratory muscle function in cystic fibrosis (CF) patients. We initially validated results from a bioelectrical impedance device against dual energy x-ray absorptiometry (DEXA). We then determined whether fat free mass assessed by a portable impedance device rather than body mass index (BMI) better correlated with pulmonary function, respiratory muscle strength and exercise capacity in CF patients. METHODS: Eighteen young people and adults (median age 19, range 12-39 years) with CF had dual energy X-ray absorptiometry and direct segmental multi-frequency impedance analysis. Body composition, pulmonary function, respiratory muscle function and exercise tolerance using the impedance device were measured in 29 young people with CF with median age 15 (range 12-19) years. MAIN FINDINGS: There was a significant correlation between impedance and absorptiometry results (r2 = 0.947). Fat free mass correlated with the forced vital capacity z-score (r = 0.442, p = 0.016), maximal inspiratory pressure (r = 0.451, p = 0.014) and exercise tolerance (r = 0. 707, p < 0.001). BMI z-scores did not significantly correlate with pulmonary or respiratory muscle function. Subjects with a fat free mass z-score of ≤2 had a lower forced expiratory volume in 1 s z-score (p = 0.007), lower forced vital capacity z-score (p = 0.001), higher residual volume z-score (p = 0.042), lower maximal inspiratory pressure (p = 0.039), more days of intravenous antibiotics per year (p = 0.016) and a higher rate of chronic infections (p = 0.006). PRINCIPAL CONCLUSIONS: Fat-free mass measured by impedance correlated better with pulmonary and respiratory muscle function and exercise capacity than BMI.


Assuntos
Fibrose Cística/fisiopatologia , Estado Nutricional , Absorciometria de Fóton , Adolescente , Adulto , Índice de Massa Corporal , Criança , Impedância Elétrica , Tolerância ao Exercício , Feminino , Humanos , Pulmão/fisiopatologia , Masculino , Força Muscular , Músculos Respiratórios/fisiopatologia , Adulto Jovem
7.
J Med Case Rep ; 3: 8582, 2009 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-19830232

RESUMO

INTRODUCTION: Cystic fibrosis is usually associated with chronic pulmonary sepsis and frequent infective exacerbations. We report a very unusual cause of severe hypoxaemia in a woman with cystic fibrosis caused by thrombus formation in the right atrium. CASE PRESENTATION: A 21-year-old Caucasian woman with cystic fibrosis and a totally implantable venous access device presented with severe hypoxaemia. This was initially treated with antibiotics but her oxygen levels did not improve significantly. Subsequently, a transient ischaemic attack occurred. Further investigations, including a contrast echocardiogram and a cardiac magnetic resonance scan, revealed the presence of a large right atrial thrombus and right-to-left intracardiac shunt through a patent foramen ovale. CONCLUSION: This case highlights the need to consider a right-to-left shunt in chronic respiratory diseases when hypoxaemia is out of proportion to the degree of lung function impairment. Totally implantable venous access devices should always be considered as a source of thrombus formation.

8.
Thorax ; 62(4): 341-7, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17121870

RESUMO

BACKGROUND: Lung clearance index (LCI), a measure of ventilation inhomogeneity derived from the multiple-breath inert gas washout (MBW) technique, has been shown to detect abnormal lung function more readily than spirometry in preschool children with cystic fibrosis, but whether this holds true during infancy is unknown. OBJECTIVES: To compare the extent to which parameters derived from the MBW and the raised lung volume rapid thoraco-abdominal compression (RVRTC) techniques identify diminished airway function in infants with cystic fibrosis when compared with healthy controls. METHODS: Measurements were performed during quiet sleep, with the tidal breathing MBW technique being performed before the forced expiratory manoeuvres. RESULTS: Measurements were obtained in 39 infants with cystic fibrosis (mean (SD) age 41.4 (22.0) weeks) and 21 controls (37.0 (15.1) weeks). Infants with cystic fibrosis had a significantly higher respiratory rate (38 (10) vs 32 (5) bpm) and LCI (8.4 (1.5) vs 7.2 (0.3)), and significantly lower values for all forced expiratory flow-volume parameters compared with controls. Girls with cystic fibrosis had significantly lower forced expiratory volume (FEV(0.5) and FEF(25-75 )) than boys (mean (95% CI girls-boys): -1.2 (-2.1 to -0.3) for FEV(0.5) Z score; FEF(25-75): -1.2 (-2.2 to -0.15)). When using both the MBW and RVRTC techniques, abnormalities were detected in 72% of the infants with cystic fibrosis, with abnormalities detected in 41% using both techniques and a further 15% by each of the two tests performed. CONCLUSIONS: These findings support the view that inflammatory and/or structural changes in the airways of children with cystic fibrosis start early in life, and have important implications regarding early detection and interventions. Monitoring of early lung disease and functional status in infants and young children with cystic fibrosis may be enhanced by using both MBW and the RVRTC.


Assuntos
Fibrose Cística/diagnóstico , Área Sob a Curva , Broncopatias/fisiopatologia , Fibrose Cística/fisiopatologia , Diagnóstico Precoce , Feminino , Humanos , Lactente , Masculino , Testes de Função Respiratória/métodos
9.
J Interprof Care ; 19(4): 408-9, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16076602

RESUMO

We report a project being launched to evaluate transition services for young people with Cystic Fibrosis (CF) living in Southeast London, UK, and attending either King's College Hospital (KCH) or University Hospital Lewisham (UHL).


Assuntos
Continuidade da Assistência ao Paciente/organização & administração , Fibrose Cística/terapia , Equipe de Assistência ao Paciente/organização & administração , Avaliação de Programas e Projetos de Saúde , Adulto , Criança , Inglaterra , Humanos
10.
Am J Respir Crit Care Med ; 166(10): 1350-7, 2002 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-12421744

RESUMO

The tidal and raised volume rapid thoracoabdominal compression techniques are increasingly used to detect diminished airway function in infancy. The aim of this study was to assess the relative ability of parameters measured by these techniques to identify diminished airway function in infants newly diagnosed with cystic fibrosis (CF) with and without clinical evidence of prior lower respiratory illness. A cross-sectional, prospective study design was used in which maximal flow at functional residual capacity (VmaxFRC) from the tidal technique and FVC, FEV0.5, FEF75, and FEF25-75 from the raised volume technique were measured in 47 infants with CF and 187 healthy infants of similar body size, sex distribution, ethnic group, and exposure to maternal smoking. Multiple linear regression was used to assess group differences and to calculate SD scores for each parameter for the infants with CF. Airway function was also compared with clinical assessments of respiratory status made by pediatric pulmonologists. FEV0.5 was significantly diminished in 13 infants with CF, of whom 4 had been identified by clinicians as having normal respiratory status. Only one infant with CF had a VmaxFRC below the estimated normal range. Airway function is diminished in infants with CF irrespective of prior lower respiratory illness and in those whose respiratory status is considered normal by pediatric pulmonologists. In infants with CF, the raised volume technique identified diminished airway function more frequently than the tidal technique.


Assuntos
Fibrose Cística/fisiopatologia , Fluxo Expiratório Forçado/fisiologia , Volume Expiratório Forçado/fisiologia , Fatores Etários , Proteção da Criança , Pré-Escolar , Fibrose Cística/complicações , Fibrose Cística/microbiologia , Feminino , Capacidade Residual Funcional/fisiologia , Humanos , Lactente , Bem-Estar do Lactente , Recém-Nascido , Londres , Masculino , Recidiva , Testes de Função Respiratória , Infecções Respiratórias/complicações , Infecções Respiratórias/microbiologia , Infecções Respiratórias/fisiopatologia , Capacidade Vital/fisiologia
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