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ArticleMultidisciplinary respiratory medicine2017

Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD.

Ardak Zhumagaliyeva, Stefania Ottaviani, Timm Greulich, Marina Gorrini, Claus Vogelmeier, Ludmila Karazhanova, Gulmira Nurgazina, Annalisa DeSilvestri, Victor Kotke, Valentina Barzon and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Multidisciplinary respiratory medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 49% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Case finding of Alpha-1 antitrypsin deficiency: never wasted time!Multidisciplinary respiratory medicine · 2018
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 4 institutions in 2 countries.

Ardak ZhumagaliyevaSemey State Medical University, Semey, Kazakhstan.
Stefania OttavianiCenter for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of Pavia, Piazza Golgi 1, 27100 Pavia, Italy.
Timm GreulichUniversity Clinic of Marburg and Gissen, Center for Research alpha-1-antitrypsin deficiency, Marburg, Germany.
Marina GorriniCenter for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of Pavia, Piazza Golgi 1, 27100 Pavia, Italy.
Claus VogelmeierUniversity Clinic of Marburg and Gissen, Center for Research alpha-1-antitrypsin deficiency, Marburg, Germany.
Ludmila KarazhanovaSemey State Medical University, Semey, Kazakhstan.
Gulmira NurgazinaKazakh Medical University of Continuing Education, Almaty, Kazakhstan.
Annalisa DeSilvestriStatistics Department Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Victor KotkeUniversity Clinic of Marburg and Gissen, Center for Research alpha-1-antitrypsin deficiency, Marburg, Germany.
Valentina BarzonCenter for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of Pavia, Piazza Golgi 1, 27100 Pavia, Italy.
Michele ZorzettoCenter for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of Pavia, Piazza Golgi 1, 27100 Pavia, Italy.
Angelo Corsico *Center for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of Pavia, Piazza Golgi 1, 27100 Pavia, Italy.
Ilaria Ferrarotti *Semey State Medical University, Semey, Kazakhstan.
University of Pavia · ITSemey Medical University · KZIstituti di Ricovero e Cura a Carattere Scientifico · ITKazakhstan Medical University · KZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAlpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens.

methodsThe alpha1-antitrypsin (AAT) concentration was determined by nephelometry, PCR was used to detect PiS and PiZ alleles; and isoelectric focusing was used to confirm questionable genotype results and detect rare AAT variants.

resultsTo this aim, 187 Kazakh subjects with COPD were recruited. Blood samples were collected as dried blood spot. Genotyping of 187 samples revealed 3 (1.6%) PI*MZ and 1 (0.53%) PI*MS, Phenotyping identified also two sample (1.1%) with phenotype PiMI. Allelic frequencies of pathological mutations Z, S and I resulted 0.8%, 0.3%, 0.5%, respectively, in COPD Kazakh population.

conclusionThis study proved that AATD is present in the Kazakh population. These results support the general concept of targeted screening for AAT deficiency in countries like Kazakhstan, with a large population of COPD patients and low awareness among care-givers about this genetic condition.

Indexed as

Alpha-1 antitrypsinChronic obstructive pulmonary diseaseGeneticsGenotypeOrphan disease

Identifiers

PMID29090095
PMCPMC5655868
OpenAlexW2752270229

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.