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1.
Rev Infirm ; 69(257): 20-22, 2020 Jan.
Artigo em Francês | MEDLINE | ID: mdl-32146958

RESUMO

The follow-up of a patient with cystic fibrosis requires specific skills. The implementation of a comprehensive management approach gives convincing results in terms of survivability and quality of life. This is why the Cystic Fibrosis Resource and Competence Centres (CRCMs) bring together multidisciplinary teams in which nurse coordinators play a key role with patients, relatives and other healthcare professionals.


Assuntos
Assistência Integral à Saúde/organização & administração , Fibrose Cística/terapia , Criança , Humanos , Equipe de Assistência ao Paciente/organização & administração
2.
Rev Infirm ; 69(257): 23-24, 2020 Jan.
Artigo em Francês | MEDLINE | ID: mdl-32146959

RESUMO

The transition from childhood to adulthood means physical and psychological upheaval. The Safetim study, in a multi-professional team, is looking at the ideal transition for cystic fibrosis patients. Synthesis of the literature on the subject.


Assuntos
Fibrose Cística/terapia , Transição para Assistência do Adulto/organização & administração , Adolescente , Adulto , Humanos
3.
Rev Infirm ; 69(257): 25-26, 2020 Jan.
Artigo em Francês | MEDLINE | ID: mdl-32146960

RESUMO

Long considered as a paediatric pathology, cystic fibrosis concerns in France more adults than children since 2015. Considering this demographic shift, the way healthcare is organized requires constant adaptation, particularly in the care of adults where new needs are rapidly emerging.


Assuntos
Continuidade da Assistência ao Paciente , Fibrose Cística/terapia , Adulto , França , Humanos
4.
Rev Infirm ; 69(257): 27-28, 2020 Jan.
Artigo em Francês | MEDLINE | ID: mdl-32146961

RESUMO

Cystic fibrosis is a chronic disease detected at birth that requires multidisciplinary follow-up throughout life. Two singular stories guide us in the reflection on end-of-life care. Firstly, it is a painful stage when it comes to giving up lung transplantation. The care receiver also wants continuity of care in line with his or her philosophy of life. The partnership of the caregivers with the ethical space and/or palliative care of the hospital becomes a necessary third party for a more peaceful end of life.


Assuntos
Fibrose Cística/terapia , Apoio Social , Assistência Terminal/organização & administração , Humanos
5.
Nat Commun ; 10(1): 3556, 2019 08 07.
Artigo em Inglês | MEDLINE | ID: mdl-31391465

RESUMO

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene. The 3272-26A>G and 3849+10kbC>T CFTR mutations alter the correct splicing of the CFTR gene, generating new acceptor and donor splice sites respectively. Here we develop a genome editing approach to permanently correct these genetic defects, using a single crRNA and the Acidaminococcus sp. BV3L6, AsCas12a. This genetic repair strategy is highly precise, showing very strong discrimination between the wild-type and mutant sequence and a complete absence of detectable off-targets. The efficacy of this gene correction strategy is verified in intestinal organoids and airway epithelial cells derived from CF patients carrying the 3272-26A>G or 3849+10kbC>T mutations, showing efficient repair and complete functional recovery of the CFTR channel. These results demonstrate that allele-specific genome editing with AsCas12a can correct aberrant CFTR splicing mutations, paving the way for a permanent splicing correction in genetic diseases.


Assuntos
Acidaminococcus/genética , Proteínas Associadas a CRISPR/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/terapia , Edição de Genes/métodos , Alelos , Proteínas de Bactérias/genética , Biópsia , Técnicas de Cultura de Células , Linhagem Celular , Fibrose Cística/genética , Fibrose Cística/patologia , Endonucleases/genética , Humanos , Intestinos/patologia , Organoides , Mutação Puntual , Sítios de Splice de RNA/genética , Processamento de RNA/genética
6.
Epidemiol Prev ; 43(4S1): 1-36, 2019.
Artigo em Italiano | MEDLINE | ID: mdl-31370382

RESUMO

INTRODUCTION: On the 27th of October 2017 the National Center for Rare Diseases of the Italian National Health Institute (NHI), clinicians of the Italian National Referral and Support Centres for Cystic Fibrosis, Paediatric Hospital "Bambino Gesù", Italian Cystic Fibrosis Society, and the Italian League for Cystic Fibrosis renewed the agreement about FC data flow for a 3 years period. The possibility to access data by third parties is among the most important new introduced within the agreement. OBJECTIVES: Aim of the present report is to improve the know-how on cystic fibrosis (CF) through a better characterization of Italian patients. Furthermore, the present Report aims at improving the care of CF patient. In particular, the Report should contribute to the following objectives: * to analize medium- and long-term clinical and epidemiological trends of the disesase; * to identify the main health care needs at regional and national level in order to contribute to the healthcare programmes and to the distribution of resources; * to compare Italian data with international ones. DESIGN: Analyses and results described in the present Report are referred to patients in charge to the Italian National Referral and Support Centers for Cystic Fibrosis in the period 2015-2016. Data were sent by Centres by means of a specific software (Camilla, Ibis Informatica). Data underwent to a double quality control (QC): the first by NHI and the second at a European level (before the inclusion of the italian data within the European Cystic Fibrosis Registry). These QCs assure the completeness and the accuracy of data as well as their consistency with European core data. Finally, in 2017, an additional CQ was performed to further reduce the number of missing data and consequently improve the precision and the consistency in the nomenclature adopted for genetic mutations. SETTING AND PARTICIPANTS: A total of 29 different CF Centres (referral, support, and Paediatric Hospital "Bambino Gesù") sent their data referred to 2015-2016 years to ICFR . Data regarding Sardinia (Southern Italy) are missing and those from Treviso (Veneto Region, Northern Italy) and Rovereto (Trentino-Alto Adige Region, Northern Italy) are sent through Verona CF Centre. RESULTS: The present Report has been organized into 10 sections. 1. Demography: estimated CF patients is 5,204 in 2015 and 5,362 in 2016; median age is 20.6 and 21.0, respectively. Prevalence is 8.6/100,000 residents in Italy in 2015 and 8.8 in 2016. Male percentage is 51.6% on average for 2015 and 2016; CF distribution showed higher frequency in patients aged from 7 to 35 years. The mean of patients aged more than 18 years is 56.5% on average in 2015 and 2016. 2. Diagnoses: most of the CF patients were diagnosed before 2 years of age (median value: 68%); a significant percentage of patients (median value: 13%) was diagnosed in adult age. 3. New diagnoses: new diagnoses were 169 in 2015 and 153 in 2016. Estimated incidence in 2015 was 1/4,176 living births in 2015 and 1/5,510 in 2016. 4. Genetics: 99.5% of patients underwent genetic analyses and in 96% of patients a mutation in Cystic Fibrosis Transmembrane Regulator (CFTR) gene was identified. [delta]508F was the most frequent mutation (44,7% in 2016). Furthermore, 16.0% and 3.4% of patients was characterized by the presence of at least one "residual function" mutation and gating, respectively. Finally, 21% of patients was a stop codons (class 1 mutation) carrier. 5. Lung function: FEV1 (forced expiratory volume in the first second) scores progressively decreased before adult age, in accordance with the natural history of the disease. FEV1% values in patients between 6 and 17 years of age is ≥70%; patients with a FEV1% value of 40% are less than 2% in the period 2015-2016. 6. Nutrition: most critical periods are during the first 6 months of life and during adolescence. Prevalence of malnourished male aged 12-17 years is constant in 2015-2016 and is always more than the prevalence observed in female. An increasing percentage of female patient with a suboptimal BMI value (35.5%) is observed among patients aged more than 18 years 7. COMPLICATIONS: it was estimated that, in 2016, hepatopathies without cirrhosis (17.7%) is the principal complications in patients aged less than 18 years; in patients aged more than 18 years the principal complication was due to hepatopathies without cirrhosis (29.5%) and diabetes (23.3%). 8. Transplantation: in 2015-2016, 74 patients were bipulmunary transplanted; age was comprised between 8 and 52 years, median age at transplantation was 29,6 years. Median waiting times for transplantation is estimated in 17 months (24 months in 2015 and 14 months in 2016). 9. Microbiology: analyses were referred to test performed in 2016. Percentage of adult patients with chronic Pseudomonas aeruginosa infection is 52.1% compared to 15.2% of paediatric patients; Staphylococcus aureus infection is present in 53.2% of adult patients and 52.8% of paediatric ones; Burkholderia Cepacia complex is present almost exclusively in adult patients (4.3%); Nontuberculous mycobacteria is present in 1.2% and 0.4% of adult and paediatric patients, respectively; Stenotrophomonas maltophilia infection is present in the 6.1% of adult patients and 4.9 of paediatric patients. 10. Mortality: 102 patients (49 males and 53 females; median age 36.9 years in 2015 and 36.5 in 2016) died in 2015-2016 (transplanted patients are not included). CONCLUSIONS: The present Report shows that Italian CF population is growing (median age) and paediatric mortality is decreasing. A very low percentage of paediatric population is characterized by complication of pulmonary function; adult patients are characterized by an increase of age at death (more than 36 years of age in 2016).


Assuntos
Fibrose Cística , Sistema de Registros , Adulto , Criança , Terapia Combinada , Fibrose Cística/diagnóstico , Fibrose Cística/epidemiologia , Fibrose Cística/genética , Fibrose Cística/terapia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Insuficiência Pancreática Exócrina/etiologia , Feminino , Humanos , Itália/epidemiologia , Pulmão/microbiologia , Pulmão/fisiopatologia , Transplante de Pulmão , Masculino , Desnutrição/etiologia , Desnutrição/prevenção & controle , Apoio Nutricional
7.
J Clin Nurs ; 28(21-22): 4062-4076, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31327174

RESUMO

AIM AND OBJECTIVES: To examine the needs and perspectives regarding healthcare transition for adolescents and young adults (AYAs) with the following long-term conditions: diabetes, cystic fibrosis and congenital heart disease. BACKGROUND: Transition of AYAs within healthcare services has become increasingly important as more children are surviving into adulthood with long-term conditions. Yet, limited empirical evidence exists regarding transition experiences. DESIGN: Qualitative study fulfilling the completed consolidated criteria for reporting qualitative studies criteria (see Appendix S1). METHODS: Semi-structured interviews with AYAs aged 14-25 years (n = 47), parents (n = 37) and health professionals (n = 32), which was part of a larger mixed-methods study. Sample was recruited from two children's hospitals and four general hospitals in Ireland. RESULTS: Transfer occurred between the ages of 16-early 20s years depending on the service. None of the hospitals had a transition policy, and transition practices varied considerably. Adolescents worried about facing the unknown, communicating and trusting new staff and self-management. The transition process was smooth for some young adults, while others experienced a very abrupt transfer. Parents desired greater involvement in the transition process with some perceiving a lack of recognition of the importance of their role. In paediatric services, nurses reported following-up adolescents who struggled with treatment adherence and clinic attendance, whereas after transfer, little effort was made to engage young adults if there were lapses in care, as this was generally considered the young adults' prerogative. CONCLUSIONS: The amount of preparation and the degree to which the shift in responsibility had occurred prior to transition appeared to influence successful transition for AYAs and their parents. RELEVANCE TO CLINICAL PRACTICE: Nurses in collaboration with the multidisciplinary team can help AYAs develop their self-management skills and guide parents on how to relinquish responsibility gradually prior to transition.


Assuntos
Doença Crônica/psicologia , Pessoal de Saúde/psicologia , Pais/psicologia , Transição para Assistência do Adulto/organização & administração , Adolescente , Adulto , Criança , Doença Crônica/terapia , Fibrose Cística/psicologia , Fibrose Cística/terapia , Diabetes Mellitus Tipo 1/psicologia , Diabetes Mellitus Tipo 1/terapia , Feminino , Cardiopatias Congênitas/psicologia , Cardiopatias Congênitas/terapia , Humanos , Irlanda , Masculino , Relações Profissional-Paciente , Pesquisa Qualitativa , Adulto Jovem
8.
Cochrane Database Syst Rev ; 7: CD001198, 2019 07 22.
Artigo em Inglês | MEDLINE | ID: mdl-31328789

RESUMO

BACKGROUND: Enteral tube feeding is routinely used in many cystic fibrosis centres when oral dietary and supplement intake has failed to achieve an adequate nutritional status. The use of this method of feeding is assessed on an individual basis taking into consideration the patients age and clinical status. This is a final update of a previously published review. OBJECTIVES: To examine the evidence that in people with cystic fibrosis, supplemental enteral tube feeding improves nutritional status, respiratory function, and quality of life without significant adverse effects. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register which comprises references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. We also contacted the companies that market enteral feeds and reviewed their databases.Date of the most recent search of the Group's Cystic Fibrosis Trials Register: 10 July 2019.Date of the most recent hand search of PubMed: 26 October 2018. SELECTION CRITERIA: All randomised controlled trials comparing supplemental enteral tube feeding for one month or longer with no specific intervention in people with cystic fibrosis. DATA COLLECTION AND ANALYSIS: The searches identified 44 trials; however, none were eligible for inclusion in this review. MAIN RESULTS: There are no trials included in this review. AUTHORS' CONCLUSIONS: Supplemental enteral tube feeding is widely used throughout the world to improve nutritional status in people with cystic fibrosis. The methods mostly used, nasogastric or gastrostomy feeding, are expensive and may have a negative effect on self-esteem and body image. Reported use of enteral tube feeding suggests that it results in nutritional and respiratory improvement; but, efficacy has not been fully assessed by randomised controlled trials. It is acknowledged, however, that performing a randomised controlled trial would be difficult due to the ethics of withholding an intervention in a group of people whose nutritional status necessitates it.


Assuntos
Fibrose Cística/terapia , Nutrição Enteral/métodos , Suplementos Nutricionais , Humanos , Estado Nutricional , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto
9.
Gene Ther ; 26(9): 354-362, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31300729

RESUMO

Cystic fibrosis (CF) is a life-limiting disease caused by defective or deficient cystic fibrosis transmembrane conductance regulator (CFTR) activity. The recent advent of the FDA-approved CFTR modulator drug ivacaftor, alone or in combination with lumacaftor or tezacaftor, has enabled treatment of the majority of patients suffering from CF. Even before the identification of the CFTR gene, gene therapy was put forward as a viable treatment option for this genetic condition. However, initial enthusiasm has been hampered as CFTR gene delivery to the lungs has proven to be more challenging than expected. This review covers the contemporary clinical and scientific knowledge base for small molecule CFTR modulator drug therapy, gene delivery vectors and CRISPR/Cas9 gene editing and highlights the prospect of these technologies for future treatment options.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Fibrose Cística/terapia , Terapia Genética , Aminofenóis/uso terapêutico , Animais , Sistemas CRISPR-Cas , Fibrose Cística/genética , Fibrose Cística/metabolismo , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Técnicas de Transferência de Genes , Vetores Genéticos , Humanos , Quinolonas/uso terapêutico
10.
Folia Med (Plovdiv) ; 61(2): 213-222, 2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-31301654

RESUMO

BACKGROUND: Health-related quality of life (HRQoL) is a parameter that is examined in the area of clinical effectiveness. Like other chronic health conditions, paediatric cystic fibrosis (CF) impacts not only children but also their families. AIM: The present study investigates for the first time the HRQoL of children and parents in the Republic of North Macedonia. MATERIALS AND METHODS: The survey included 22 children (6 to 13 years of age) and their parents and 7 parents of children under 6 years of age by using the CFQ Revised and questions for current medical treatment. RESULTS: Children (6-13 years) reported the highest score for the digestive condition (84.85), while the lowest score was given for social activity (59.74). The highest score for digestive condition was also obtained from the parents of children from 6-13 years and under age of 6. The parents of children (6-13 years) reported the lowest score (60.56) for treatment burden activity, while the lowest score (50.0) for eating condition was obtained from the parents of children under 6 years. CONCLUSION: Nationality and gender have no significant impact on the HRQoL parameters. The highest scores for the digestive condition, respiratory function and physical condition are in a positive correlation with the fact that enzyme, antibiotic and physical therapy are given as a standard medical care. The lowest scores of the social aspect of the CF patients indicate the need for including a psychological support and support of social workers as a part of the standard medical care of these patients.


Assuntos
Fibrose Cística/fisiopatologia , Fibrose Cística/psicologia , Pais , Qualidade de Vida , Adolescente , Imagem Corporal , Criança , Efeitos Psicossociais da Doença , Fibrose Cística/complicações , Fibrose Cística/terapia , Doenças do Sistema Digestório/etiologia , Doenças do Sistema Digestório/fisiopatologia , Doenças do Sistema Digestório/psicologia , Comportamento Alimentar , Feminino , Humanos , Masculino , Doenças Respiratórias/etiologia , Doenças Respiratórias/fisiopatologia , Doenças Respiratórias/psicologia , Participação Social
11.
Nat Commun ; 10(1): 3124, 2019 07 16.
Artigo em Inglês | MEDLINE | ID: mdl-31311920

RESUMO

Cystic fibrosis (CF) is a genetic disorder caused by defective CF Transmembrane Conductance Regulator (CFTR) function. Insulin producing pancreatic islets are located in close proximity to the pancreatic duct and there is a possibility of impaired cell-cell signaling between pancreatic ductal epithelial cells (PDECs) and islet cells as causative in CF. To study this possibility, we present an in vitro co-culturing system, pancreas-on-a-chip. Furthermore, we present an efficient method to micro dissect patient-derived human pancreatic ducts from pancreatic remnant cell pellets, followed by the isolation of PDECs. Here we show that defective CFTR function in PDECs directly reduced insulin secretion in islet cells significantly. This uniquely developed pancreatic function monitoring tool will help to study CF-related disorders in vitro, as a system to monitor cell-cell functional interaction of PDECs and pancreatic islets, characterize appropriate therapeutic measures and further our understanding of pancreatic function.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Fibrose Cística/fisiopatologia , Células Epiteliais/patologia , Ilhotas Pancreáticas/fisiopatologia , Dispositivos Lab-On-A-Chip , Adolescente , Criança , Pré-Escolar , Técnicas de Cocultura/métodos , Fibrose Cística/patologia , Fibrose Cística/terapia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Células Epiteliais/metabolismo , Feminino , Humanos , Insulina/metabolismo , Ilhotas Pancreáticas/metabolismo , Masculino , Microdissecção , Organoides , Ductos Pancreáticos/citologia , Ductos Pancreáticos/patologia , Cultura Primária de Células/métodos
12.
Neumol. pediátr. (En línea) ; 14(2): 86-91, jul. 2019. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1015004

RESUMO

Bronchiectasis is a suppurative lung disease with heterogeneous phenotypic characteristics. It is defined as abnormal dilation of the bronchi, losing the existing relationship between bronchial sizes and accompanying artery. According to their form, they can be cylindrical, varicose, saccular or cystic. According to its location, they could be diffuse or localized. The diagnosis of bronchiectasis is usually suspected in patients with chronic cough, mucopurulent bronchorrea, and recurrent respiratory infections. The etiology can be varied, being able to classify in cystic fibrosis bronchiectasis, when there is cystic fibrosis transmembrane regulator (CFTR) gene mutation and not cystic fibrosis, being post infectious the most frequent. Its relationship with childhood is unknown. Severe respiratory infections can predispose in a susceptible subject the so-called theory of the "vicious circle" and the development of these. Persistent bacterial bronchitis in children has been described as a probable cause of not cystic fibrosis bronchiectasis in adults. The treatment is based on the management of symptoms and the prevention of exacerbations. The evidence is poor and many treatments are extrapolated from cystic fibrosis bronchiectasis. We are going to describe the diagnostic and therapeutic approach of non-cystic fibrosis bronchiectasis in adults.


La bronquiectasia es una enfermedad pulmonar supurativa con características fenotípicas heterogéneas. Se define como la dilatación anormal de los bronquios, perdiendo la relación existente entre tamaño bronquial y arteria que acompaña. Según su forma, pueden ser clasificadas en cilíndricas, varicosas, saculares o quísticas y según su etiología presentarse de forma difusa o localizada. El diagnóstico de bronquiectasias se sospecha generalmente en pacientes con tos crónica, broncorrea mucosa, mucupurulenta e infecciones respiratorias recurrentes. La etiología es variada, pudiendo clasificarse en bronquiectasias fibrosis quística, aquellas que se encuentran en el contexto de la mutación del gen regulador transmembrana de fibrosis quística (CFTR) y no fibrosis quística, de etiologías diversas, siendo post infecciosas la gran mayoría. No se conoce con certeza su relación con la infancia, es sabido que infecciones respiratorias severas pueden predisponer en un sujeto susceptible, a la llamada teoría del "circulo vicioso" y el desarrollo de estas. La bronquitis bacteriana persistente en niños se ha descrito como una causa probable del desarrollo de bronquiectasias no fibrosis quística en adultos. El tratamiento se basa en el manejo de los síntomas y la prevención de las exacerbaciones. La evidencia es escasa y la mayoría de las terapias se han investigado en las bronquiectasias tipo fibrosis quística. En este trabajo se explicará el enfrentamiento diagnóstico y terapéutico de los adultos portadores de bronquiectasias no fibrosis quística.


Assuntos
Humanos , Masculino , Criança , Adulto , Aspergilose Broncopulmonar Alérgica/diagnóstico , Aspergilose Broncopulmonar Alérgica/terapia , Bronquiectasia/fisiopatologia , Bronquiectasia/terapia , Fibrose Cística/diagnóstico , Aspergilose Broncopulmonar Alérgica/diagnóstico por imagem , Bronquiectasia/diagnóstico , Bronquiectasia/etiologia , Bronquiectasia/epidemiologia , Radiografia Torácica , Macrolídeos/uso terapêutico , Fibrose Cística/terapia , Fibrose Cística/epidemiologia , Antibacterianos/uso terapêutico
13.
Croat Med J ; 60(3): 246-249, 2019 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-31187952

RESUMO

The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence of specific mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report a case of cystic fibrosis (CF) in a 15-year-old female patient who is a compound heterozygote for CFTR gene, with delta F508 and Tyr109Glyfs mutations detected. This is the first detailed description of such a case in the medical literature. The primary CF presentation occurred at the age of 9 in the form of gastrointestinal symptoms including greasy, bulky, and foul-smelling stool. The patient exhibited delayed growth, with her height and weight being below the 5th centile for age according to the World Health Organization growth curves. Pancreatic enzyme supplement treatment was started immediately, alongside high-fat and high-calorie diet, resulting in patient's recovery and development. DNA analysis of CFTR gene demonstrated the presence of del. F508 mutation and a rare combining deletion and insertion mutation p. Tyr109Glyfs. The combination of the two mutations is very rare in CF patients and is therefore valuable to document this case in order to provide information on disease progression, therapy options, and outcomes. With standard treatment and early diagnosis, the patient is currently doing well and is not restricted by the disease in her daily and sports activities.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Fibrose Cística/terapia , Adolescente , Criança , Fibrose Cística/diagnóstico , Feminino , Heterozigoto , Humanos , Mutação INDEL
14.
Rev Mal Respir ; 36(5): 565-577, 2019 May.
Artigo em Francês | MEDLINE | ID: mdl-31208888

RESUMO

INTRODUCTION: SAFETIM-APP compiled an inventory of professional practice in the 45 French cystic fibrosis reference centres (CFRC), between February 2015 and December 2016, related to the transition of adolescents with cystic fibrosis to adult centres. METHOD: This multicentre cross-sectional study addressed the modalities of the transition in CFRCs and proposed a list of items that could be used to establish quality criteria. Quantitative analysis of the criteria and a qualitative analysis of the transition procedure were carried out. RESULTS: A total of 77% of the CFRCs that were contacted took part. Transition lasted 3 to 5 years and began at around 15 years of age. Nine criteria were described as fundamental, including: collaboration between teams, taking adolescence into account, having a time for adolescents to speak with the physician alone, defining a program including therapeutic education, involving the family, accompanying the parents. Seven additional criteria were noted to be important, including: re-announcing the diagnosis, identifying a common thread (caregiver) accompanying the family, scheduling adult follow-up from paediatrics onwards, visiting the adult department, organizing a formal departure/reception time, initiating the process early enough, identifying indicators to evaluate practices. CONCLUSION: The transition processes in place in CFRCs can be improved by implementing the use of these quality criteria systematically.


Assuntos
Fibrose Cística/terapia , Padrões de Prática Médica , Indicadores de Qualidade em Assistência à Saúde , Transição para Assistência do Adulto , Adolescente , Adulto , Estudos Transversais , Fibrose Cística/epidemiologia , Feminino , França/epidemiologia , Humanos , Masculino , Padrões de Prática Médica/organização & administração , Padrões de Prática Médica/normas , Padrões de Prática Médica/estatística & dados numéricos , Melhoria de Qualidade , Inquéritos e Questionários , Transição para Assistência do Adulto/organização & administração , Transição para Assistência do Adulto/normas , Transição para Assistência do Adulto/estatística & dados numéricos , Adulto Jovem
15.
J Bras Pneumol ; 45(3): e20170351, 2019 May 30.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31166553

RESUMO

OBJECTIVE: Home nebulizers are routinely used in the treatment of patients with cystic fibrosis (CF). This study aims to evaluate the contamination of nebulizers used for CF patients, that are chronically colonized by Pseudomonas aeruginosa, and the association of nebulizer contamination with cleaning, decontamination and drying practices. METHODS: A cross-sectional, observational, multicenter study was conducted in seven CF reference centers in Brazil to obtain data from medical records, structured interviews with patients/caregivers were performed, and nebulizer's parts (interface and cup) were collected for microbiological culture. RESULTS: overall, 77 CF patients were included. The frequency of nebulizer contamination was 71.6%. Candida spp. (52.9%), Stenotrophomonas maltophilia (11.9%), non-mucoid P. aeruginosa (4.8%), Staphylococcus aureus (4.8%) and Burkholderia cepacia complex (2.4%) were the most common isolated pathogens. The frequency of nebulizers' hygiene was 97.4%, and 70.3% of patients reported cleaning, disinfection and drying the nebulizers. The use of tap water in cleaning method and outdoor drying of the parts significantly increased (9.10 times) the chance of nebulizers' contamination. CONCLUSION: Despite the high frequency hygiene of the nebulizers reported, the cleaning and disinfection methods used were often inadequate. A significant proportion of nebulizers was contaminated with potentially pathogenic microorganisms for CF patients. These findings support the need to include patients/caregivers in educational programs and / or new strategies for delivering inhaled antibiotics.


Assuntos
Fibrose Cística/terapia , Contaminação de Equipamentos/estatística & dados numéricos , Nebulizadores e Vaporizadores/microbiologia , Pseudomonas aeruginosa/isolamento & purificação , Adolescente , Adulto , Brasil , Criança , Contagem de Colônia Microbiana , Estudos Transversais , Descontaminação/métodos , Descontaminação/estatística & dados numéricos , Desinfecção/métodos , Desinfecção/estatística & dados numéricos , Contaminação de Equipamentos/prevenção & controle , Feminino , Humanos , Modelos Logísticos , Masculino , Valores de Referência , Adulto Jovem
17.
Respir Med Res ; 75: 5-9, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31235455

RESUMO

OBJECTIVES: Maintenance of optimal nutritional status is a crucial issue for cystic fibrosis (CF) patients. Here, we evaluate the effects of an 8-week exercise training (ET) program on body composition in CF patients. METHODS: This prospective pilot observational study was conducted in adult CF subjects in stable condition following their annual check-up. The ET program consisted of three sessions per week and included aerobic training (≥30min), muscle strengthening, circuit training, and relaxation. Exercise tolerance (6-minute walk test, 6MWT), pulmonary function, quadriceps isometric strength, and body composition (bioelectrical impedance analysis of fat-free mass [FFM], fat mass, and body cell mass) were analyzed before and immediately after the ET program. A control group of CF patients who preferred not to participate in the ET program received the same evaluations. RESULTS: A total of 43 CF patients were enrolled and offered the ET program; 28 accepted (aged 28±5 years, forced expiratory volume in 1s [FEV1] 48.8±19% predicted) and 15 declined the ET program but agreed to be part of the control group (matched for age and CF severity: 30.8±9 years, FEV1 51.8±16.5%). Pulmonary function was unchanged at the end of the ET program, but significant improvements were observed in 6MWT distance (from 520±96m to 562±105m, P<0.001) and muscle strength (331±141N to 379±168N, P<0.001). Although mean body mass index did not change, the ET group showed significantly increased FFM (43.85±8kg to 44.5±9.2kg, P=0.03) and a trend towards increased body cell mass (21.4±6 to 22.1±6.6kg, P=0.06). All other parameters were unchanged by ET. There were no significant correlations between the increase in FFM and the improvements in either 6MWT distance or muscle strength. The CF control group exhibited no significant changes in any parameters between evaluations. CONCLUSIONS: ET significantly improved FFM, but not body mass index, in CF patients. The results illustrate the superiority of bioimpedancemetry for assessing changes in body composition and reveal the importance of ET for improving not only exercise tolerance but also nutritional status in these patients.


Assuntos
Composição Corporal/fisiologia , Fibrose Cística/fisiopatologia , Fibrose Cística/terapia , Exercício/fisiologia , Condicionamento Físico Humano/métodos , Adulto , Fibrose Cística/metabolismo , Teste de Esforço , Tolerância ao Exercício , Feminino , Volume Expiratório Forçado/fisiologia , Humanos , Masculino , Força Muscular/fisiologia , Projetos Piloto , Estudos Prospectivos , Testes de Função Respiratória , Adulto Jovem
18.
Paediatr Respir Rev ; 31: 21-24, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31153793

RESUMO

Newborn screening and extensive genetic analysis has led to the recognition of a cohort of infants with an equivocal diagnosis of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) disease. This paper reviews the comprehensive approach required for diagnosis of Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) and uses an illustrative case with p.Asp1152His (D1152H) mutation to examine the varying clinical phenotype seen amongst CFSPID patients. Whilst infants are well at diagnosis, uncertainties about cystic fibrosis (CF) disease progression indicate the importance of monitoring and early specialist involvement. However, over-medicalisation can cause significant psychosocial impact on patients' and families. The complexities underlying the surveillance and long-term management of patients with CFSPID are explored.


Assuntos
Fibrose Cística/diagnóstico , Fibrose Cística/terapia , Cloretos/análise , Efeitos Psicossociais da Doença , Fibrose Cística/genética , Fibrose Cística/fisiopatologia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Gerenciamento Clínico , Progressão da Doença , Humanos , Recém-Nascido , Mutação , Triagem Neonatal , Fenótipo , Suor/química
19.
Int J Mol Sci ; 20(9)2019 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-31052156

RESUMO

Cystic fibrosis (CF) is a genetic disorder affecting several organs including airways. Bacterial infection, inflammation and iron dysbalance play a major role in the chronicity and severity of the lung pathology. The aim of this study was to investigate the effect of lactoferrin (Lf), a multifunctional iron-chelating glycoprotein of innate immunity, in a CF murine model of Pseudomonas aeruginosa chronic lung infection. To induce chronic lung infection, C57BL/6 mice, either cystic fibrosis transmembrane conductance regulator (CFTR)-deficient (Cftrtm1UNCTgN(FABPCFTR)#Jaw) or wild-type (WT), were intra-tracheally inoculated with multidrug-resistant MDR-RP73 P. aeruginosa embedded in agar beads. Treatments with aerosolized bovine Lf (bLf) or saline were started five minutes after infection and repeated daily for six days. Our results demonstrated that aerosolized bLf was effective in significantly reducing both pulmonary bacterial load and infiltrated leukocytes in infected CF mice. Furthermore, for the first time, we showed that bLf reduced pulmonary iron overload, in both WT and CF mice. In particular, at molecular level, a significant decrease of both the iron exporter ferroportin and iron storage ferritin, as well as luminal iron content was observed. Overall, bLf acts as a potent multi-targeting agent able to break the vicious cycle induced by P. aeruginosa, inflammation and iron dysbalance, thus mitigating the severity of CF-related pathology and sequelae.


Assuntos
Anti-Infecciosos/uso terapêutico , Fibrose Cística/terapia , Lactoferrina/uso terapêutico , Pneumonia/terapia , Administração por Inalação , Animais , Anti-Infecciosos/administração & dosagem , Proteínas de Transporte de Cátions/metabolismo , Bovinos , Fibrose Cística/complicações , Fibrose Cística/genética , Ferritinas/metabolismo , Lactoferrina/administração & dosagem , Camundongos , Camundongos Endogâmicos C57BL , Pneumonia/etiologia , Pneumonia/microbiologia , Pseudomonas aeruginosa/patogenicidade
20.
Cell Physiol Biochem ; 52(6): 1267-1279, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31026390

RESUMO

BACKGROUND/AIMS: Because of the small size of adeno-associated virus, AAV, the cystic fibrosis conductance regulator, CFTR, cDNA is too large to fit within AAV and must be truncated. We report here on two truncated versions of CFTR, which, when inserted into AAV1 and used to infect airway cells, rescue F508-del CFTR via transcomplementation. The purpose of this study is to shed light on where in the cell transcomplementation occurs and how it results in close association between the endogenous F508-del and truncated CFTR. METHODS: We treated CF airway cells (CFBE41o-) with AAV2/1 (AAV2 inverted terminal repeats/AAV1 capsid) containing truncated forms of CFTR, ∆264 and ∆27-264 CFTR, who can restore the function of F508-del by transcomplementation. We addressed the aims of the study using a combination of confocal microscopy and short circuit currents measurements. For the latter, CF bronchial epithelial cells (CFBE) were grown on permeable supports. RESULTS: We show that both F508del and the truncation mutants colocalize in the ER and that both the rescued F508-del and the transcomplementing mutants reach the plasma membrane together. There was significant fluorescence resonance energy transfer (FRET) between F508-del and the transcomplementing mutants within the endoplasmic reticulum (ER), suggesting that transcomplementation occurs through a bimolecular interaction. We found that transcomplementation could increase the Isc in CFBE41o- cells stably expressing additional wt-CFTR or F508-del and in parental CFBE41o- cells expressing endogenous levels of F508-del. CONCLUSION: We conclude that the functional rescue of F508-del by transcomplementation occurs via a bimolecular interaction that most likely begins in the ER and continues at the plasma membrane. These results come at an opportune time for developing a gene therapy for CF and offer new treatment options for a wide range of CF patients.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Dependovirus/genética , Retículo Endoplasmático/genética , Linhagem Celular , Fibrose Cística/terapia , Terapia Genética , Humanos , Mucosa Respiratória/citologia , Mucosa Respiratória/metabolismo , Deleção de Sequência , Transfecção
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