Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

Costa, Cláudia Henrique da; Filho, Arnaldo José Noronha; Silva, Rosa Maria Fernambel Marques e; Cruz, Thaís Ferrari da; Monteiro, Valéria de Oliveira; Pio, Margareth; Rufino, Rogério

doi:10.1186/s13104-018-4043-9

Cited by 26 publications

(25 citation statements)

References 24 publications

(23 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Of these, 36 (25.5%) were found to have an intermediate deficiency, and five (3.5%) were found to have severe AATD. This incidence is slightly higher than recent data based on the case-finding program in COPD in Spain, Ireland, and Argentina [ 29 , 30 , 31 ], but it is lower than those reported in the German population [ 32 ]. Therefore, since South Italy is a low AATD prevalence area, the frequencies of intermediate and severe AATD reported in the present study is higher than expected, thus supporting the correct approach in selecting patients for AATD testing.…”

Section: Discussioncontrasting

confidence: 62%

Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy

Annunziata

Ferrarotti

Coppola

et al. 2021

JCM

View full text Add to dashboard Cite

Introduction. Alpha-1 antitrypsin deficiency (AATD) is a genetic condition associated with several respiratory diseases in patients with severe protein deficiency. AATD is often late diagnosed or underdiagnosed. Diagnosis frequently occurs in patients with chronic obstructive pulmonary disease and emphysema characterized by frequent exacerbations and over ten years’ duration. The purpose of this study was to evaluate the incidence of alpha-1 antitrypsin deficiency in patients with the chronic pulmonary disease after a thorough screening in the city of Naples in southern Italy. Materials and methods. Two hundred patients suffering from respiratory pathology (chronic obstructive pulmonary disease (COPD), emphysema, asthma, or bronchiectasis) were examined and evaluated in our outpatients’ clinic and tested for serum levels of AAT. Patients who had a respiratory disease suspected of AATD and/or serum AAT < 120 mg/dL underwent genetic testing. Genetic screening was performed on samples from 141 patients. Results. A total of 36 patients had an intermediate deficiency of AAT levels. Among them, 8 were PI*MZ, 6 were PI*MS and 22 had rare pathological mutations. Five patients had a severe AATD, all were composite heterozygous with S or Z allele, while the other allele had a rare pathological mutation. Conclusions. The incidence of genetic defects as AATD in the population of patients affected by chronic respiratory disorders is always a matter of discussion because of the frequent interaction between genes and environmental causes. In our series, numerous rare variants and compound heterozygosity have been described. No homozygous patients have been described. The present is one of few studies available on the incidence of rare variants in the geographic area of the city of Naples. So, our results could be considered interesting not only to know the incidence of AATD and its related rare mutations but also to support early diagnosis and treatments for patients with chronic pulmonary disease and frequent exacerbation and to fight the association with environmental causes of pulmonary damages as smoking.

show abstract

Section: Discussioncontrasting

confidence: 62%

Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy

Annunziata

Ferrarotti

Coppola

et al. 2021

JCM

View full text Add to dashboard Cite

show abstract

“…In this study, we examined the zoonotic and virulence potential of C. silvaticum W25, a recently described species isolated from roe deer and wild boars [ 23 , 26 , 27 ], which may serve as a reservoir for human infections. As basic pathogenicity parameters, adhesion, invasion and cytotoxicity were characterized.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, the genome sequence of an atypical C. ulcerans strain was published [ 27 ]. Strain W25 was isolated from a wild boar shot during a hunt near Ilfeld, Thuringia, Germany.…”

Section: Introductionmentioning

confidence: 99%

“…W25 was isolated from the abscesses, while other pathogens like Salmonella , yeasts, dermatophytes, different viruses and Trichinella parasites were not detected by standard methods. When genome sequence data of isolate W25 were generated, assembled and analyzed, a close taxonomical relationship of the strain to C. pseudotuberculosis was initially observed [ 27 ]. Later, more detailed taxonomic analyses revealed that isolate W25 is a member of a newly defined species, Corynebacterium silvaticum , which mainly infects forest animals such as roe deer and wild boars [ 23 , 25 , 26 ].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Newly Isolated Animal Pathogen Corynebacterium silvaticum Is Cytotoxic to Human Epithelial Cells

Möller

Busch

Berens

et al. 2021

IJMS

View full text Add to dashboard Cite

Corynebacterium silvaticum is a newly identified animal pathogen of forest animals such as roe deer and wild boars. The species is closely related to the emerging human pathogen Corynebacterium ulcerans and the widely distributed animal pathogen Corynebacterium pseudotuberculosis. In this study, Corynebacterium silvaticum strain W25 was characterized with respect to its interaction with human cell lines. Microscopy, measurement of transepithelial electric resistance and cytotoxicity assays revealed detrimental effects of C. silvaticum to different human epithelial cell lines and to an invertebrate animal model, Galleria mellonella larvae, comparable to diphtheria toxin-secreting C. ulcerans. Furthermore, the results obtained may indicate a considerable zoonotic potential of this newly identified species.

show abstract

“…Several studies have refined the knowledge on the genomic diversity of probiotic Enterococcus strains to elucidate their genomic features responsable for survival in GI tract, antibiotic resistance, virulence factors and the genetic divergence between pathogenic and probiotic Enterococcus strains [ 18 – 21 ]. Some knowledge has been acquired on LABs metabolic activities include carbohydrate, protein and lipid metabolisms, and other metabolic activities.…”

Section: Introductionmentioning

confidence: 99%

High-quality genome sequence assembly of R.A73 Enterococcus faecium isolated from freshwater fish mucus

et al. 2020

View full text Add to dashboard Cite

Background Whole-genome sequencing using high throughput technologies has revolutionized and speeded up the scientific investigation of bacterial genetics, biochemistry, and molecular biology. Lactic acid bacteria (LABs) have been extensively used in fermentation and more recently as probiotics in food products that promote health. Genome sequencing and functional genomics investigations of LABs varieties provide rapid and important information about their diversity and their evolution, revealing a significant molecular basis. This study investigated the whole genome sequences of the Enterococcus faecium strain (HG937697), isolated from the mucus of freshwater fish in Tunisian dams. Genomic DNA was extracted using the Quick-GDNA kit and sequenced using the Illumina HiSeq2500 system. Sequences quality assessment was performed using FastQC software. The complete genome annotation was carried out with the Rapid Annotation using Subsystem Technology (RAST) web server then NCBI PGAAP. Results The Enterococcus faecium R.A73 assembled in 28 contigs consisting of 2,935,283 bps. The genome annotation revealed 2884 genes in total including 2834 coding sequences and 50 RNAs containing 3 rRNAs (one rRNA 16 s, one rRNA 23 s and one rRNA 5 s) and 47 tRNAs. Twenty-two genes implicated in bacteriocin production are identified within the Enterococcus faecium R.A73 strain. Conclusion Data obtained provide insights to further investigate the effective strategy for testing this Enterococcus faecium R.A73 strain in the industrial manufacturing process. Studying their metabolism with bioinformatics tools represents the future challenge and contribution to improving the utilization of the multi-purpose bacteria in food.

show abstract

Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

Cited by 26 publications

References 24 publications

Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy

Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy

Newly Isolated Animal Pathogen Corynebacterium silvaticum Is Cytotoxic to Human Epithelial Cells

High-quality genome sequence assembly of R.A73 Enterococcus faecium isolated from freshwater fish mucus

Contact Info

Product

Resources

About