Demographic, clinical, and laboratory parameters of cystic fibrosis during the last two decades: a comparative analysis

Marson, Fernando Augusto Lima; Hortêncio, Taís Daiene Russo; Aguiar, Kátia Cristina Alberto; Ribeiro, José Dirceu

doi:10.1186/1471-2466-15-3

Cited by 18 publications

(15 citation statements)

References 36 publications

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“…Essa mutação é responsável por 66% a 80% dos fenótipos de FC em todo o mundo (BORTHWICK, 2011;SARAIVA-PEREIRA et al, 2011;PEREIRA et al, 2012), sendo também a mutação mais frequente na população caucasiana com a FC (CARAKUSHANSKY, 2001;FARIA et al, 2009;OTTO, 2013 A maioria das quase 2.000 mutações restantes do gene cftr são raras (MARSON et al, 2015), sendo quatro mutações com frequência alélica acima de 1% entre os indivíduos afetados: p.Gly542X,.Gly551Asp, p.Asn1303Lys e p.Trp1282X em estatística mundial (SARAIVA-PEREIRA et al, 2011). A frequência e a distribuição das mutações no cftr variam de acordo com a origem étnica e a localização geográfica dos pacientes com FC (SINGH et al, 2015).…”

Section: Genéticaunclassified

“…Esse aumento gera uma alteração no transporte, e nos fluxos de cloro e água, realizado através das membranas epiteliais apicais de eletrólitos, ocorrendo desidratação extracelular (MARSON et al, 2015). Como consequência de todo mecanismo patológico, há manifestações no funcionamento das estruturas revestidas por essas membranas, sendo estas: pulmões, pâncreas, intestino, árvore hepatobiliar e no trato genital masculino (NUSSBAUM et al, 2002;TRUJILLANO et al, 2015).…”

Section: Fisiopatogêniaunclassified

“…Em 2014, estima-se que cerca de 2.000 mutações já haviam sido encontradas (MARSON et al, 2015). Há correlação entre as frequências das mutações no gene cftr com a origem étnica e região demográfica dos pacientes com FC.…”

Section: Introductionunclassified

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Aspectos Genéticos E Clínicos Da Fibrose Cística

Santos¹,

Vinhal²,

Santo³

et al. 2017

Enci Bio

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Section: Genéticaunclassified

Section: Fisiopatogêniaunclassified

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Aspectos Genéticos E Clínicos Da Fibrose Cística

Santos¹,

Vinhal²,

Santo³

et al. 2017

Enci Bio

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“…It is highly necessary to seek out new therapies to enhance the quality of life and life expectancy among children with CF (13). In addition, with regards to the problems caused by this disease in the patients, this study was con-ducted to investigate the acute effect of nebulized NaCl 5% on spirometry indices and pulmonary function in CF patients over 6 years referring to the clinic of lung disease in Mofid Children hospital.…”

Section: Introductionmentioning

confidence: 99%

“…This substance improves pulmonary function and respiratory symptoms and causes a decrease in respiratory attacks and an increase in the intervals between the attacks (5, 10, 11). However, hypersaline is not tolerated by some patients (12) and it should be further investigated for use (5,13). To study pulmonary function in patients with CF, spirometry and associated indices are measured.…”

Section: Introductionmentioning

confidence: 99%

The Acute Effect of Inhaled NaCl 5%, Per CF TRUST Protocol, on Spirometry Indices in Patients Over Six Years with Cystic Fibrosis

Tabatabaei

Panahandeh

Khanbabaei

et al. 2018

Arch Pediatr Infect Dis

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Background: Our aim was to investigate the acute effect of inhaled NaCl 5% on spirometry indices in patients aged over six years with cystic fibrosis (CF). Methods: 44 children over 6 years of age with CF took part in this study. Spirometry indices were measured. After receiving two puffs of salbutamol spray, the children were administered with 5 ml NaCl 5% by a medical compressed air system using a nebulizer kit and immediately a spirometric test was taken again. Spirometry results were recorded and the data were analyzed by SPSS v.18. Results:The percentages of the annual decline of forced expiratory volume in one second (FEV1) were 10.12 ± 31.28, 7.26 ± 17.10, and 13.8 ± 21.7 in children aged 6 -8 years, 9 -12 years, and over 13 years, respectively. There were significant differences in FVC, FEV1/FVC, MEF50, MEF75, MMEF25/27 before and after hypertonic NaCl 5% inhalation (P < 0.05). A significant decline in FEV1 was observed only in 2% of the children. Conclusions: Patients with CF exhibited a suitable response to acute inhalation of hypertonic NaCl 5%.

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Sequence heterogeneity of the PenA carbapenemase in clinical isolates of Burkholderia multivorans

Becka

Zeiser

Marshall

et al. 2018

Diagnostic Microbiology and Infectious Disease

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Multidrug-resistant gram-negative pathogens are a significant health threat. Burkholderia spp. encompass a complex subset of gram-negative bacteria with a wide range of biological functions that include human, animal, and plant pathogens. The treatment of infections caused by Burkholderia spp. is problematic due to their inherent resistance to multiple antibiotics. The major β-lactam resistance determinant expressed in Burkholderia spp. is a class A β-lactamase of the PenA family. In this study, significant amino acid sequence heterogeneity was discovered in PenA (37 novel variants) within a panel of 48 different strains of Burkholderia multivorans isolated from individuals with cystic fibrosis. Phylogenetic analysis distributed the 37 variants into 5 groups based on their primary amino acid sequences. Amino acid substitutions were present throughout the entire β-lactamase and did not congregate to specific regions of the protein. The PenA variants possessed 5 to 17 single amino acid changes. The N189S and S286I substitutions were most prevalent and found in all variants. Due to the sequence heterogeneity in PenA, a highly conserved peptide (18 amino acids) within PenA was chosen as the antigen for polyclonal antibody production in order to measure expression of PenA within the 48 clinical isolates of B. multivorans. Characterization of the anti-PenA peptide antibody, using immunoblotting approaches, exposed several unique features of this antibody (i.e., detected <500 pg of purified PenA, all 37 PenA variants in B. multivorans, and Pen-like β-lactamases from other species within the Burkholderia cepacia complex). The significant sequence heterogeneity found in PenA may have occurred due to selective pressure (e.g., exposure to antimicrobial therapy) within the host. The contribution of these changes warrants further investigation.

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Demographic, clinical, and laboratory parameters of cystic fibrosis during the last two decades: a comparative analysis

Cited by 18 publications

References 36 publications

Aspectos Genéticos E Clínicos Da Fibrose Cística

Aspectos Genéticos E Clínicos Da Fibrose Cística

The Acute Effect of Inhaled NaCl 5%, Per CF TRUST Protocol, on Spirometry Indices in Patients Over Six Years with Cystic Fibrosis

Sequence heterogeneity of the PenA carbapenemase in clinical isolates of Burkholderia multivorans

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