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1.
Infection ; 50(3): 671-679, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34874541

RESUMO

PURPOSE: To describe the clinical course of COVID-19 in patients with cystic fibrosis (CF) and to identify risk factors for severe COVID-19. METHODS: We conducted a prospective study within the Italian CF Society. CF centers collected baseline and follow-up data of patients with virologically confirmed SARS-CoV-2 infection between March 2020 and June 2021. Odds ratios (ORs) for severe SARS-CoV-2 (as defined by hospital admission) were estimated by logistic regression models. RESULTS: The study included 236 patients with positive molecular test for SARS-CoV-2. Six patients died, 43 patients were admitted to hospital, 4 admitted to intensive care unit. Pancreatic insufficiency was associated with increased risk of severe COVID-19 (OR 4.04, 95% CI 1.52; 10.8). After adjusting for age and pancreatic insufficiency, forced expiratory volume in one second (FEVp) < 40% (OR 4.54, 95% CI 1.56; 13.2), oxygen therapy (OR 12.3, 95% CI 2.91-51.7), underweight (OR 2.92, 95% CI 1.12; 7.57), organ transplantation (OR 7.31, 95% CI 2.59; 20.7), diabetes (OR 2.67, 95% CI 1.23; 5.80) and liver disease (OR 3.67, 95% CI 1.77; 7.59) were associated with increased risk of severe COVID-19, while use of dornase alfa was associated with a reduced risk (OR 0.34, 95% CI 0.13-0.88). No significant changes were observed in FEVp from baseline to a median follow-up of 2 months (median difference: 0, interquartile range: - 4; 5, P = 0.62). CONCLUSION: Clinical features indicative of severe form of CF are associated with increased risk of COVID-19 hospitalization. SARS-CoV-2 infected patients do not experience a deterioration of respiratory function.


Assuntos
COVID-19 , Fibrose Cística , Insuficiência Pancreática Exócrina , COVID-19/epidemiologia , Fibrose Cística/complicações , Insuficiência Pancreática Exócrina/complicações , Humanos , Itália/epidemiologia , Estudos Prospectivos , Fatores de Risco , SARS-CoV-2
2.
Genes Chromosomes Cancer ; 56(1): 51-58, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27553422

RESUMO

Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction. Mutations in the SBDS gene cause SDS. Clonal chromosome anomalies are often present in BM, i(7)(q10) and del(20q) being the most frequent ones. We collected 6 SDS cases with del(20q): a cluster of imprinted genes, including L3MBTL1 and SGK2 is present in the deleted region. Only the paternal allele is expressed for these genes. Based on these data, we made the hypothesis that the loss of this region, in relation to parental origin of deletion, may be of relevance for the hematological phenotype. By comparing hematological data of our 6 cases with a group of 20 SDS patients without evidence of del(20q) in BM, we observed a significant difference for Hb levels (P < 0.012), and a difference slightly above the significance level for RBC counts (P < 0.053): in both cases the values were higher in patients with del(20q). We also report preliminary evidence for an increased number of BFU-E colonies in cases with paternal deletion, data on the presence of the deletion in colonies and in mature circulating lymphocytes. © 2016 Wiley Periodicals, Inc.


Assuntos
Doenças da Medula Óssea/genética , Proteínas Cromossômicas não Histona/genética , Cromossomos Humanos Par 20/genética , Insuficiência Pancreática Exócrina/genética , Impressão Genômica , Proteínas Imediatamente Precoces/genética , Lipomatose/genética , Proteínas Serina-Treonina Quinases/genética , Deleção de Sequência , Biomarcadores Tumorais , Aberrações Cromossômicas , Seguimentos , Humanos , Mutação/genética , Estadiamento de Neoplasias , Fenótipo , Prognóstico , Proteínas Repressoras , Estudos Retrospectivos , Síndrome de Shwachman-Diamond , Proteínas Supressoras de Tumor
3.
G Ital Nefrol ; 41(3)2024 06 28.
Artigo em Italiano | MEDLINE | ID: mdl-38943326

RESUMO

Cystic fibrosis is a multisystem disease with extremely variable onset, symptoms and course. One of the onset modality but also a complication of the disease is the pseudo-Bartter syndrome, characterized by hyponatremia, hypochloremic dehydration and metabolic alkalosis in absence of any renal disease. This syndrome occurs more frequently in the first year of life and has a peak in the summer. In this article, we describe two cases of cystic fibrosis associated with pseudo-Bartter syndrome in childhood. Excluding every possible cause of metabolic alkalosis associated with hyponatremia was crucial for our diagnostic pathway, and the experience gained with the first case helped a lot with the second one.


Assuntos
Síndrome de Bartter , Fibrose Cística , Humanos , Fibrose Cística/complicações , Fibrose Cística/genética , Fibrose Cística/diagnóstico , Síndrome de Bartter/complicações , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/genética , Masculino , Feminino , Hiponatremia/etiologia , Alcalose/etiologia , Pré-Escolar , Criança
4.
J Pediatr Gastroenterol Nutr ; 49(3): 335-42, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19543116

RESUMO

OBJECTIVES: To evaluate growth in Italian patients with cystic fibrosis (CF). PATIENTS AND METHODS: A multicentre cross-sectional study was carried out on patients with CF attending Italian reference centres. Anthropometric data were evaluated using the Centers for Disease Control and Prevention 2000 reference data. Nutritional failure was defined as height-for-age percentile (HAP) <5th (all patients); weight-for-length percentile (WLP) <10th (patients <2 years); body mass index percentile (BMIp) <15th (patients between 2 and 18 years). The risk of malnutrition (defined as HAP, WLP, and BMIp <25th) and the proportion of patients below the "BMIp goal" (BMIp > or =50th) were also evaluated. Nutritional status was evaluated in the whole population and in relation to age, sex, pancreatic insufficiency, meconium ileus, and lung function. RESULTS: A total of 892 patients with CF (50.7% males, mean age 9.2 years, range 0.1-18 years) were enrolled. The proportion of children with HAP <5th, WLP<10th and BMIp<15th was 12.2%. 12.9%, 20.9%, respectively, and 54.4% did not fulfill the BMIp > or =50th goal. HAP <25th identified the highest proportion of children at risk of malnutrition, whereas BMIp <15th identified the highest proportion of children with nutritional failure. Whatever the criterion used to define malnutrition, the highest proportion of children with nutritional failure was found in adolescence (11-18 years). z scores for height, weight, and BMI were significantly associated with pancreatic status and lung function. Differences among centres for the auxologic parameters were not significant, except for BMIp. CONCLUSIONS: Nutritional failure is present in a minority of Italian patients with CF, particularly during adolescence. Different auxologic indicators should be used for identifying children at risk for or with actual malnutrition.


Assuntos
Tamanho Corporal , Fibrose Cística/complicações , Transtornos do Crescimento/etiologia , Desnutrição/etiologia , Adolescente , Fatores Etários , Índice de Massa Corporal , Criança , Pré-Escolar , Estudos Transversais , Fibrose Cística/fisiopatologia , Transtornos do Crescimento/epidemiologia , Humanos , Lactente , Itália , Pulmão/fisiopatologia , Masculino , Desnutrição/diagnóstico , Desnutrição/epidemiologia , Pâncreas/fisiopatologia , Prevalência , Risco
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