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2.
Med Arch ; 73(2): 118-120, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31391700

RESUMO

Introduction: Cystic fibrosis (CF) is a genetic multisystem disorder that affects mostly the lungs, but other organs such as liver, pancreas and intestine also affected. CF is inherited in an autosomal recessive manner and occurs in males and females equally. Cystic fibrosis Transmembrane Conductance Regulator (CFTR) mutations are classified into five classes. Class 1 (non-functional protein), class 2 (near-absence of mature CFTR protein at the apical cell membrane), class 3 (full-length CFTR protein incorporated into the cell membrane), class 4 (reduced conductance CFTR mutation), and class 5 (reduced amount of CFTR protein with normal function). Globally F508 mutation is the most common. Aim: The aim of this study was to determine the frequency of CFTR gene mutation in Jordanian populations attending a major hospital (KHMC). Material and Methods: This is a retrospective study was conducted on 777 sera samples for patients clinically suspected to have cystic fibrosis over a six year period 1/1/2013-1/10/2018. The patient's age range between 1year and 33 years, of which 59.2% (460) were male and 40.8% (317) female. Blood samples were analyzed at Princess Iman Centre for Research and Laboratory Sciences at King Hussein Medical Centre. The samples were tested for 34 mutations of CFTR gene using CF Strip Assay VIENNA LAB Diagnostics GmbH, Austria by polymerase chain reaction (PCR). Results: A total of 777 patients samples were analyzed for cystic gene mutations. Twelve (12) mutations were identified. In 49 patients (6.3%) were heterozygous genotype mutant and 28 (3.6%) were homozygous. The most frequent mutation F508del was found in 32/77 (41.5%). 20 (25.9%) of them were heterozygous genotype mutant and 12 (15.6%) were homozygous genotype mutant. The second frequent mutation was N1303K with frequency rate 15.6% (12/77), 9 (11.7%) of them were heterozygous and 3 (3.9%) were homozygous. Regarding frequency of cystic fibrosis gene mutation depending on sex, 55.8% (43/77) of mutations were found in male, whereas 44.2% (34/77) in female. Conclusion: Our findings suggest that cystic fibrosis in Jordan is not a rare disease, and found that the most frequent CFTR gene mutation was F508del, which is in keeping with results from other Mediterranean countries.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Adolescente , Adulto , Criança , Pré-Escolar , Fibrose Cística/epidemiologia , Feminino , Genótipo , Heterozigoto , Homozigoto , Humanos , Lactente , Jordânia/epidemiologia , Masculino , Mutação , Estudos Retrospectivos , Adulto Jovem
3.
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
4.
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
5.
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
6.
Infection ; 47(5): 817-825, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31093923

RESUMO

PURPOSE: NTM are ubiquitous bacteria that can cause colonisation and infection in immunocompetent and compromised hosts. The aim of this study was to elucidate the epidemiology of infection or colonisation with NTM for the metropolitan region of Frankfurt, Germany. METHODS: All patients from whom NTM were isolated within the period from 2006 to 2016 were included in this retrospective analysis. Patient data were retrieved using the local patient data management system. Different groups were formed according to clinical manifestations, underlying diseases and mycobacterial species. They were compared in regard to mortality, duration of infection/colonisation and their geographical origins. RESULTS: A total of 297 patients with a median of 28 new patients each year were included. Most patients suffered from lung infection or colonisation (72.7%, n = 216), followed by disseminated mycobacteriosis (12.5%, n = 37). The majority were HIV-positive, suffering from malignoma or cystic fibrosis (29.3%, n = 87, 16.2%, n = 48, and 13.8%, n = 41, respectively). 17.2% of patients showed no predisposing condition (n = 51). Mycobacterium avium complex (MAC) species were most frequently isolated (40.7%, n = 121). Infection/colonisation was longest in CF patients (median of 1094 days). The mortality was highest in malignoma patients (52.4%), while CF patients had the lowest overall mortality rate (5.3%). But mortality analysis showed non-significant results within different mycobacterial species and clinical manifestations. CONCLUSION: NTM remain rare but underestimated pathogens in lung and disseminated disease. MAC were the species most frequently isolated. Depending on species and underlying predispositions, the duration of infection/colonisation can be unexpectedly long.


Assuntos
Infecções por Micobactéria não Tuberculosa/epidemiologia , Micobactérias não Tuberculosas/patogenicidade , Centros de Atenção Terciária , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Cidades , Fibrose Cística/epidemiologia , Fibrose Cística/microbiologia , Feminino , Alemanha/epidemiologia , Soropositividade para HIV/epidemiologia , Soropositividade para HIV/microbiologia , Humanos , Pulmão/microbiologia , Masculino , Pessoa de Meia-Idade , Infecções por Micobactéria não Tuberculosa/mortalidade , Complexo Mycobacterium avium/patogenicidade , Neoplasias/epidemiologia , Neoplasias/microbiologia , Micobactérias não Tuberculosas/classificação , Estudos Retrospectivos , Adulto Jovem
7.
Rev Mal Respir ; 36(4): 508-518, 2019 Apr.
Artigo em Francês | MEDLINE | ID: mdl-31006579

RESUMO

INTRODUCTION: In 2015, the International Society for Heart and Lung Transplantation (ISHLT) published a consensus document for the selection of lung transplant candidates. In the absence of recent French recommendations, this guideline is useful in order to send lung transplant candidates to the transplantation centers and to list them for lung transplantation at the right time. BACKGROUND: The main indications for lung transplantation in adults are COPD and emphysema, idiopathic pulmonary fibrosis and interstitial diseases, cystic fibrosis and pulmonary arterial hypertension (PAH). The specific indications for each underlying disease as well as the general contraindications have been reviewed in 2015 by the ISHLT. For cystic fibrosis, the main factors are forced expiratory volume in one second, 6-MWD, PAH and clinical deterioration characterized by increased frequency of exacerbations; for emphysema progressive disease, the BODE score, hypercapnia and FEV1; for PAH progressive disease or the need of specific intravenous therapy and NYHA classification. Finally, the diagnosis of fibrosing interstitial lung disease is usually a sufficient indication for lung transplantation assessment. OUTLOOK AND CONCLUSION: These new recommendations, close to French practices, help clinicians to find the right time for referral of patients to transplantation centers. This is crucial for the prognosis of lung transplantation.


Assuntos
Transplante de Pulmão/métodos , Seleção de Pacientes , Adulto , Contraindicações , Fibrose Cística/epidemiologia , Fibrose Cística/terapia , França/epidemiologia , Transplante de Coração-Pulmão/efeitos adversos , Transplante de Coração-Pulmão/métodos , Transplante de Coração-Pulmão/normas , Humanos , Hipertensão Pulmonar/epidemiologia , Hipertensão Pulmonar/terapia , Fibrose Pulmonar Idiopática/epidemiologia , Fibrose Pulmonar Idiopática/terapia , Doenças Pulmonares Intersticiais/epidemiologia , Doenças Pulmonares Intersticiais/terapia , Transplante de Pulmão/efeitos adversos , Transplante de Pulmão/normas , Transplante de Pulmão/estatística & dados numéricos , Guias de Prática Clínica como Assunto/normas , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Doença Pulmonar Obstrutiva Crônica/terapia , Enfisema Pulmonar/epidemiologia , Enfisema Pulmonar/terapia
8.
PLoS One ; 14(4): e0212779, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30947265

RESUMO

OBJECTIVE: Cystic fibrosis associated liver disease (CFLD) is the third largest cause of mortality in CF. Our aim was to define the burden of CFLD in the UK using national registry data and identify risk factors for progressive disease. METHODS: A longitudinal population-based cohort study was conducted. Cases were defined as all patients with CFLD identified from the UK CF Registry, 2008-2013 (n = 3417). Denominator data were derived from the entire UK CF Registry. The burden of CFLD was characterised. Regression analysis was undertaken to identify risk factors for cirrhosis and progression. RESULTS: Prevalence of CFLD increased from 203.4 to 228.3 per 1000 patients during 2008-2013. Mortality in CF patients with CFLD was more than double those without; cirrhotic patients had higher all-cause mortality (HR 1.54, 95% CI 1.09 to 2.18, p = 0.015). Median recorded age of cirrhosis diagnosis was 19 (range 5-53) years. Male sex, Pseudomonas airway infection and CF related diabetes were independent risk factors for cirrhosis. Ursodeoxycholic acid use was associated with prolonged survival in patients without cirrhosis. CONCLUSIONS: This study highlights an important changing disease burden of CFLD. The prevalence is slowly increasing and, importantly, the disease is not just being diagnosed in childhood. Although the role of ursodeoxycholic acid remains controversial, this study identified a positive association with survival.


Assuntos
Fibrose Cística/epidemiologia , Cistos/epidemiologia , Doenças do Sistema Digestório/epidemiologia , Cirrose Hepática/epidemiologia , Hepatopatias/epidemiologia , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Fibrose Cística/complicações , Fibrose Cística/patologia , Cistos/complicações , Cistos/patologia , Doenças do Sistema Digestório/complicações , Doenças do Sistema Digestório/patologia , Feminino , Humanos , Cirrose Hepática/complicações , Cirrose Hepática/patologia , Hepatopatias/complicações , Hepatopatias/patologia , Masculino , Fatores de Risco , Índice de Gravidade de Doença , Reino Unido/epidemiologia , Adulto Jovem
10.
PLoS One ; 14(4): e0213639, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30978192

RESUMO

Cystic fibrosis (CF) is the one of the most common inherited diseases. It affects around 10,000 people in the UK, and the median survival age is 47. Recent developments making use of longitudinal patient registry data are producing more detailed and relevant information about predicted life expectancy in CF based on current age and clinical measurements. The objective of this study was toconduct an online survey of adults with CF living in the UK using a web-based questionnaire to investigate: (i) if and how they access information on life expectancy; (ii) what they use it for; (iii) if they want more personalised information on life expectancy or the time until other milestones. The survey was advertised through the Cystic Fibrosis Trust using social media. There were 85 respondents, covering men (39%) and women (61%) aged 16-65. 75% had received information on life expectancy either from their CF care team (34%) or other sources (71%), the most common being the Cystic Fibrosis Trust website and research literature. Most people who received information found it to be beneficial and reported using it in a variety of ways, including to plan strategies for maintaining as best health as possible and to psychologically manage current health status. 82% of respondents were interested in more personalised information about their life expectancy, and participants also noted interest in other outcomes, including time to needing transplant or reaching a low level of lung function. Themes arising in text responses included the importance of good communication of information, the difficulty of relating general information to one's own circumstances, and a desire for increased information on factors that impact on survival in CF. As an outcome from this work, research is underway to establish how information on life expectancy can be presented to people with CF in an accessible way.


Assuntos
Fibrose Cística/epidemiologia , Expectativa de Vida , Mídias Sociais , Adolescente , Adulto , Idoso , Fibrose Cística/patologia , Feminino , Humanos , Internet , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Inquéritos e Questionários , Adulto Jovem
11.
Paediatr Respir Rev ; 31: 15-17, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30967346

RESUMO

Aside from the traditional CF pathogens, Haemophilus influenzae, Staphylococcus aureus and Pseudomonas aeruginosa, there are an increasing number of organisms found to have chronic carriage in patients with cystic fibrosis, including gram-negative bacteria, non-tuberculous mycobacteria, anaerobic bacteria and fungal species. Some of these lower prevalence organisms, such as Burkholderia cenocepacia and Mycobacterium abscessus complex, are recognised as true pathogens associated with significant adverse clinical consequences, whilst for others the relative pathogenicity and need for treatment are unclear. This article will highlight some of the challenges in assessing what is a pathogen in CF and the potential implications of infection with different organisms for individual patients.


Assuntos
Doenças Transmissíveis Emergentes/microbiologia , Fibrose Cística/microbiologia , Infecções por Burkholderia/epidemiologia , Burkholderia cenocepacia , Doenças Transmissíveis Emergentes/epidemiologia , Fibrose Cística/epidemiologia , Infecções por Haemophilus/epidemiologia , Haemophilus influenzae , Humanos , Infecções por Micobactéria não Tuberculosa/epidemiologia , Mycobacterium abscessus , Infecções por Pseudomonas/epidemiologia , Pseudomonas aeruginosa , Infecções Estafilocócicas/epidemiologia , Staphylococcus aureus
12.
Emerg Infect Dis ; 25(4): 797-799, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30882308

RESUMO

We collected sputum samples and cough plates from 15 cystic fibrosis patients in the Netherlands who were colonized with Aspergillus fumigatus; we recovered A. fumigatus of the same genotype in cough aerosols and sputum samples from 2 patients. The belief that transmission of A. fumigatus from cystic fibrosis patients does not occur should be reconsidered.


Assuntos
Aspergilose/etiologia , Aspergilose/transmissão , Aspergillus fumigatus , Fibrose Cística/complicações , Exposição por Inalação/efeitos adversos , Antifúngicos/farmacologia , Antifúngicos/uso terapêutico , Aspergilose/epidemiologia , Aspergillus fumigatus/classificação , Aspergillus fumigatus/efeitos dos fármacos , Aspergillus fumigatus/genética , Aspergillus fumigatus/isolamento & purificação , Fibrose Cística/epidemiologia , Genótipo , Humanos , Tipagem Molecular , Países Baixos/epidemiologia , Vigilância em Saúde Pública , Escarro/microbiologia
13.
Rev Bras Ginecol Obstet ; 41(4): 230-235, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30847877

RESUMO

OBJECTIVES: To assess the perinatal and maternal outcomes of pregnant women with cystic fibrosis (CF) and severe lung impairment. METHODS: This was a series of cases aiming to review the maternal and fetal outcomes in cases of singleton pregnant women with a diagnosis of CF. We have included all of the cases of singleton pregnancy in patients with CF who were followed-up at the obstetrics department of the Medical School of the Universidade de São Paulo, between 2003 and 2016. The exclusion criteria were the unattainability of the medical records of the patient, and delivery at other institutions. A forced expiratory volume in 1 second < 50% was considered as severe lung impairment. We have also analyzed data regarding maternal hospitalization and respiratory exacerbations (REs). RESULTS: Pregnant women with CF and severe lung impairment did not present an association with spontaneous prematurity, fetal growth restriction or fetal demise. All of the cases involved multiple RE episodes requiring antibiotic therapy. The median (range) of events per patient was of 4 (2-4) events. CONCLUSION: Cystic fibrosis patients with severe lung impairment may achieve successful term pregnancies. However, pregnancies of women with CF are frequently complicated by REs, and this population may require hospital admission during the course of the pregnancy. Cystic fibrosis patients should be followed by a specialized team with experience in treating respiratory diseases.


Assuntos
Fibrose Cística/epidemiologia , Complicações na Gravidez/epidemiologia , Adolescente , Adulto , Brasil/epidemiologia , Fibrose Cística/mortalidade , Feminino , Morte Fetal , Humanos , Gravidez , Complicações na Gravidez/mortalidade , Resultado da Gravidez , Cuidado Pré-Natal , Adulto Jovem
14.
J Bras Pneumol ; 45(1): e20170280, 2019 Feb 28.
Artigo em Inglês, Português | MEDLINE | ID: mdl-30843951

RESUMO

OBJECTIVE: Bone disease is a common comorbidity in patients with cystic fibrosis (CF). We sought to determine risk factors and identify potential biochemical markers for CF-related bone disease (CFBD) in a unique cohort of CF patients with end-stage lung disease undergoing lung transplantation (LTx) evaluation. METHODS: All of the CF patients who were evaluated for LTx at our center between November of 1992 and December of 2010 were included in the study. Clinical data and biochemical markers of bone turnover, as well as bone mineral density (BMD) at the lumbar spine and femoral neck, were evaluated. Spearman's rho and multivariate logistic regression analysis were used. RESULTS: A total of 102 adult CF patients were evaluated. The mean age was 28.1 years (95% CI: 26.7-29.5), and the mean body mass index was 17.5 kg/m2 (95% CI: 17.2-18.2). Mean T-scores were -2.3 and -1.9 at the lumbar spine and femoral neck, respectively, being lower in males than in females (-2.7 vs. -2.0 at the lumbar spine and -2.2 vs. -1.7 at the femoral neck). Overall, 52% had a T-score of < -2.5 at either skeletal site. The homozygous Phe508del genotype was found in 57% of patients without osteoporosis and in 60% of those with low BMD. Mean T-scores were not particularly low in patients with severe CFTR mutations. Although the BMI correlated with T-scores at the femoral neck and lumbar spine, serum 25-hydroxyvitamin D and parathyroid hormone levels did not. CONCLUSIONS: CFBD is common in CF patients with end-stage lung disease, particularly in males and patients with a low BMI. It appears that CF mutation status does not correlate with CFBD. In addition, it appears that low BMD does not correlate with other risk factors or biochemical parameters. The prevalence of CFBD appears to have recently decreased, most likely reflecting increased efforts at earlier diagnosis and treatment.


Assuntos
Fibrose Cística/complicações , Pneumopatias/complicações , Osteoporose/etiologia , Adulto , Índice de Massa Corporal , Densidade Óssea , Remodelação Óssea , Estado Terminal , Fibrose Cística/epidemiologia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Feminino , Humanos , Modelos Logísticos , Pneumopatias/epidemiologia , Transplante de Pulmão , Masculino , Análise Multivariada , Mutação , Osteoporose/epidemiologia , Hormônio Paratireóideo/sangue , Estudos Retrospectivos , Distribuição por Sexo , Estatísticas não Paramétricas , Suíça/epidemiologia , Vitamina D/análogos & derivados , Vitamina D/sangue
15.
Eur J Pediatr ; 178(6): 803-809, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30852643

RESUMO

In Germany, screening for cystic fibrosis (CF) is part of the newborn screening since September 2016. The risk of psychological harm due to false-positive screening results is a longstanding concern. We investigated the parents' perception of the CF screening process in Bavaria and the communication after positive screening results with a questionnaire. Until August 2018, 192 children went through a final diagnostic testing after a positive CF screening result, and 105 (54.7%) families completed the questionnaire. Of these, only 30 parents obtained information about the newborn screening by a physician, despite this being mandatory in Germany. Parents being informed by a CF specialist (28.6%) about the positive screening result were more satisfied with the given information (80.0 versus 50% informed by the maternity ward), and the delay until the final diagnostic testing was shorter. More than 3 days between the information about the screening result and the diagnostic testing was too long for 77.7% of the families.Conclusion: Performing final diagnostic testing with only short delays and receiving satisfactory information is important. Therefore, parents should be informed directly by a CF center about positive screening results and only when sweat testing is possible within the next days. What is Known: • The risk of psychological harm due to false-positive screening results is a longstanding concern. • Satisfactory information about the positive CF screening result seem to reduce the parental stress. What is New: • Parents being informed directly by a CF specialist were more satisfied with the given information and the delay until the final diagnostic testing was shorter. • Our data support the concept that parents should better be informed directly by a CF specialist about positive screening results and only when sweat testing is possible within the next days to reduce parental stress.


Assuntos
Fibrose Cística/diagnóstico , Triagem Neonatal/métodos , Pais/psicologia , Fibrose Cística/epidemiologia , Feminino , Alemanha/epidemiologia , Humanos , Recém-Nascido , Masculino , Triagem Neonatal/psicologia , Inquéritos e Questionários , Fatores de Tempo
16.
J Pediatr Surg ; 54(5): 1076-1082, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30792095

RESUMO

BACKGROUND: The management of portal hypertension (PHT) in children with well compensated cirrhosis and cystic fibrosis (CF) is controversial. We present our experience with distal splenorenal shunting (DSRS) for the treatment of PHT as an alternative to liver transplantation (LT). METHODS: Between 2008 and 2017, 5 CF children underwent a DSRS at a pediatric hepatobiliary and transplantation referral center. LT (n = 9) was reserved for patients with decompensated cirrhosis. Statistical analysis was done using the paired t-test (p < 0.05 considered significant). RESULTS: Mean PELD/MELD score was significantly lower for DSRS patients than LT (3 ±â€¯6 vs 28 ±â€¯4, p < 0.001). All 5 DSRS patients had grade III-IV varices. One bled prior to surgery. After DSRS, spleen size decreased significantly from 8.4 ±â€¯1.5 cm to 4.4 ±â€¯1.8 cm (p = 0.019). Mean platelet count remained stable (87.8 ±â€¯48 to 91.8 ±â€¯35, p = 0.9). There were no postoperative complications. No DSRS patient experienced variceal bleeding following shunt creation. Liver function tests remained stable in the DSRS group, and no patient required a liver transplant (median follow up 4.65 years, range 1.24-7.79). CONCLUSIONS: Patients with cystic fibrosis who have well-compensated cirrhosis and symptomatic portal hypertension can be palliated with distal splenorenal shunting and do not need liver transplants. These patients can undergo shunting with minimal morbidity. TYPE OF STUDY: Case series with no comparison group. LEVEL OF EVIDENCE: IV.


Assuntos
Fibrose Cística , Hipertensão Portal , Cirrose Hepática , Transplante de Fígado/estatística & dados numéricos , Derivação Esplenorrenal Cirúrgica/estatística & dados numéricos , Criança , Estudos de Coortes , Fibrose Cística/complicações , Fibrose Cística/epidemiologia , Humanos , Hipertensão Portal/complicações , Hipertensão Portal/epidemiologia , Hipertensão Portal/cirurgia , Fígado/patologia , Fígado/cirurgia , Cirrose Hepática/complicações , Cirrose Hepática/epidemiologia , Cirrose Hepática/cirurgia , Baço/patologia , Baço/cirurgia
18.
Genet Med ; 21(9): 1958-1968, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30773532

RESUMO

PURPOSE: To consider the impact and cost-effectiveness of offering preventive population genomic screening to all young adults in a single-payer health-care system. METHODS: We modeled screening of 2,688,192 individuals, all adults aged 18-25 years in Australia, for pathogenic variants in BRCA1/BRCA2/MLH1/MSH2 genes, and carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), at 71% testing uptake using per-test costs ranging from AUD$200 to $1200 (~USD$140 to $850). Investment costs included genetic counseling, surveillance, and interventions (reimbursed only) for at-risk individuals/couples. Cost-effectiveness was defined below AUD$50,000/DALY (disability-adjusted life year) prevented, using an incremental cost-effectiveness ratio (ICER), compared with current targeted testing. Outcomes were cancer incidence/mortality, disease cases, and treatment costs reduced. RESULTS: Population screening would reduce variant-attributable cancers by 28.8%, cancer deaths by 31.2%, and CF/SMA/FXS cases by 24.8%, compared with targeted testing. Assuming AUD$400 per test, investment required would be between 4 and 5 times higher than current expenditure. However, screening would lead to substantial savings in medical costs and DALYs prevented, at a highly cost-effective ICER of AUD$4038/DALY. At AUD$200 per test, screening would approach cost-saving for the health system (ICER = AUD$22/DALY). CONCLUSION: Preventive genomic screening in early adulthood would be highly cost-effective in a single-payer health-care system, but ethical issues must be considered.


Assuntos
Fibrose Cística/diagnóstico , Síndrome do Cromossomo X Frágil/diagnóstico , Atrofia Muscular Espinal/diagnóstico , Neoplasias/diagnóstico , Adolescente , Adulto , Austrália/epidemiologia , Proteína BRCA1/genética , Proteína BRCA2/genética , Análise Custo-Benefício/economia , Fibrose Cística/epidemiologia , Fibrose Cística/genética , Assistência à Saúde/economia , Feminino , Síndrome do Cromossomo X Frágil/epidemiologia , Síndrome do Cromossomo X Frágil/genética , Humanos , Masculino , Metagenômica/economia , Atrofia Muscular Espinal/epidemiologia , Atrofia Muscular Espinal/genética , Proteína 1 Homóloga a MutL/genética , Proteína 2 Homóloga a MutS/genética , Neoplasias/epidemiologia , Neoplasias/genética , Anos de Vida Ajustados por Qualidade de Vida , Adulto Jovem
19.
Pediatr Diabetes ; 20(3): 255-262, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30761696

RESUMO

BACKGROUND: Standardized patient registries provide a unique basis to get insight into cystic fibrosis (CF)-related diabetes (CFRD), the most common comorbidity in CF. METHODS: A total of 3853 CFRD patients from the European CF Society Patient Registry (ECFSPR) and 752 from the German/Austrian diabetes prospective follow-up (diabetes patienten verlaufsdokumentation [DPV]) were studied. To adjust for age and sex, multivariable regression was used (SAS 9.4). RESULTS: DPV subjects were younger (26.5 [20.2-32.6] vs 28.3 [21.7-36.0] years, P < 0.001) and more often female (59.6 vs 50.9%, P < 0.001). In both registries, F508del homozygotes were most frequent, with higher proportion in DPV (80.9 vs 57.8%, P = 0.003). After adjustment, lung-transplantation (LTX) was more common in ECFSPR (18.9 vs 4.9%, P < 0.001), although duration since LTX (4.8 ± 0.2 vs 5.5 ± 0.7 years, P = 0.33) did not differ. In DPV patients without LTX, a lower BMI (19.6 ± 0.1 vs 21.0 ± 0.1 kg/m2 , P < 0.001), higher proportion of underweight (41.2 vs 20.2%, P < 0.001) and a tendency towards worse lung function (%FEV1 : 42.3 ± 4.2 vs 48.3 ± 0.5%, P = 0.16) were observed. CONCLUSIONS: Between both registries, demographic and clinical differences of CFRD were present. Besides different kind of data sources, diverse treatment structures between countries may play a role. The results may further indicate a more serious illness in patients treated in specialized diabetes clinics, documenting their data in DPV.


Assuntos
Fibrose Cística/complicações , Fibrose Cística/epidemiologia , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/etiologia , Adolescente , Adulto , Áustria/epidemiologia , Estudos de Coortes , Europa (Continente)/epidemiologia , Feminino , Seguimentos , Alemanha/epidemiologia , Humanos , Masculino , Sistema de Registros , Sociedades Médicas , Adulto Jovem
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