CZISCHKE LJUBETIC, KAREN NICOLE

Preferred name

Main Affiliation

Facultad de Medicina Clínica Alemana Universidad del Desarrollo

kczischke@udd.cl

ORCID

0000-0003-4999-0351

Scopus Author ID

57202741754

Now showing 1 - 10 of 10

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Prevalence of alpha-1-antitrypsin deficiency (A1AD) in patients with COPD
(2021)
Manuel Barros Monge
;
Rafael Silva
;
CZISCHKE LJUBETIC, KAREN NICOLE
;
Fernando Saldías
;
Juanita Pavié
3
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Fe de errores de «Incorporando nuevas evidencias sobre medicamentos inhalados en la EPOC. Asociación Latinoamericana de Tórax (ALAT) 2019» [Arch Bronconeumol. 2020;56(2):106]
(2020)
María Montes de Oca
;
Maria Victorina López Varela
;
Agustín Acuñaa
;
Eduardo Schiavi
;
Alejandro Casas
1
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Getting long-term oxygen therapy right
(Elsevier BV, 2025-06)
Masooma Aqeel
;
CZISCHKE LJUBETIC, KAREN NICOLE
;
Ayham Daher
;
Mike Hess
;
Chidiamara Maria Njoku
Scopus© Citations 1 2
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Reducing global inequities in medical oxygen access: the Lancet Global Health Commission on medical oxygen security
(Elsevier BV, 2025-03)
Hamish R Graham
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Carina King
;
Ahmed Ehsanur Rahman
;
Freddy Eric Kitutu
;
Leith Greenslade
Scopus© Citations 53 1
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Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network
(2023-12-01)
Lopez-Campos, José Luis
;
Rapun, Noelia
;
CZISCHKE LJUBETIC, KAREN NICOLE
;
Jardim, José R.
;
Acquier, Mariano Fernandez
Background: Knowledge of the frequency of rare SERPINA1 mutations could help in the management of alpha1 antitrypsin deficiency (AATD). The present study aims to assess the frequencies of rare and null alleles and their respiratory and hepatic pathogenicity. Methods: This is a secondary analysis of a study that evaluated the viability of the Progenika diagnostic genotyping system in six different countries by analyzing 30,827 samples from cases of suspected AATD. Allele-specific genotyping was carried out with the Progenika A1AT Genotyping Test which analyses 14 mutations in buccal swabs or dried blood spots samples. SERPINA1 gene sequencing was performed for serum AAT-genotype discrepancies or by request of the clinician. Only cases with rare mutations were included in this analysis. Results: There were 818 cases (2.6%) carrying a rare allele, excluding newly identified mutations. All were heterozygous except for 20 that were homozygous. The most frequent alleles were the M-like alleles, PI*Mmalton and PI*Mheerlen. Of the 14 mutations included in the Progenika panel, there were no cases detected of PI*Siiyama, PI*Q0granite falls and PI*Q0west. Other alleles not included in the 14-mutation panel and identified by gene sequencing included PI*Mwürzburg, PI*Zbristol, and PI*Zwrexham, and the null alleles PI*Q0porto, PI*Q0madrid, PI*Q0brescia, and PI*Q0kayseri. Conclusions: The Progenika diagnostic network has allowed the identification of several rare alleles, some unexpected and not included in the initial diagnostic panel. This establishes a new perspective on the distribution of these alleles in different countries. These findings may help prioritize allele selection for routine testing and highlights the need for further research into their pathogenetic role.
Scopus© Citations 5 1
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Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis
(2022)
José Luis Lopez-Campos
;
Lourdes Osaba
;
CZISCHKE LJUBETIC, KAREN NICOLE
;
José R. Jardim
;
Mariano Fernandez Acquier
<jats:title>Abstract</jats:title><jats:sec> <jats:title>Introduction</jats:title> <jats:p>Currently, strategies for improving alpha1 antitrypsin deficiency (AATD) diagnosis are needed. Here we report the performance of a multinational multiplex-based genotyping test on dried blood spots and buccal swabs sent by post or courier and with web registration for subjects with suspected AATD in Argentina, Brazil, Chile, Colombia, Spain, and Turkey. </jats:p> </jats:sec><jats:sec> <jats:title>Methods</jats:title> <jats:p>This was an observational, cross-sectional analysis of samples from patients with suspected AATD from March 2018 to January 2022. Samples were coded on a web platform and sent by post or courier to the central laboratory in Northern Spain. Allele-specific genotyping for the 14 most common mutations was carried out with the A1AT Genotyping Test (Progenika-Grifols, Spain). SERPINA1 gene sequencing was performed if none of the mutations were found or one variant was detected in heterozygous status and the AAT serum level was < 60 mg/dl, or if requested by the clinician in charge.</jats:p> </jats:sec><jats:sec> <jats:title>Results</jats:title> <jats:p>The study included 30,827 samples: 30,458 (94.7%) with final results after direct genotyping and 369 (1.1%) with additional gene sequencing. Only 0.3% of the samples were not processed due to their poor quality. The prevalence of the most frequent allele combinations was MS 14.7%, MZ 8.6%, SS 1.9%, SZ 1.9%, and ZZ 0.9%. Additionally, 70 cases with new mutations were identified. Family screening was conducted in 2.5% of the samples. Samples from patients with respiratory diseases other than COPD, including poorly controlled asthma or bronchiectasis, also presented AATD mutations.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusions</jats:title> <jats:p>Our results confirm the viability of this diagnostic system for genotyping AATD conducted simultaneously in different countries. The system has proved satisfactory and can improve the timely diagnosis of AATD.</jats:p> </jats:sec>
Scopus© Citations 9 1
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Massive haemoptysis TB or not TB
(2018)
MACARENA RODRIGUEZ VIAL
;
Benjamin Horwitz
;
Cristobal Ramos
;
CZISCHKE LJUBETIC, KAREN NICOLE
;
Georgie Eapen
2
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Incorporando nuevas evidencias sobre medicamentos inhalados en la EPOC. Asociación Latinoamericana de Tórax (ALAT) 2019
(2020)
María Montes de Oca
;
Maria Victorina López Varela
;
Agustín Acuña
;
Eduardo Schiavi
;
Alejandro Casas
Scopus© Citations 13 6
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Actualización del Plan Estratégico de la Asociación Latinoamericana de Tórax (ALAT). «Los diez mandamientos para el quinquenio 2021-2026»
(2021)
Mark Cohen
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Alejandro Casas
;
Gustavo Zabert
;
Carlos A. Torres-Duque
;
Francisco Arancibia
17Scopus© Citations 1
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Access to Treatment for Chronic Obstructive Pulmonary Disease in the Americas: A Call for Action. A Joint Perspective from the Brazilian Thoracic Society, Canadian Thoracic Society, Latin American Thoracic Society, and the American Thoracic Society
(2024)
Francesca Polverino
;
Mohit Bhutani
;
Gustavo Zabert
;
Frederico Leon Arrabal Fernandes
;
CZISCHKE LJUBETIC, KAREN NICOLE
Scopus© Citations 2

CZISCHKE LJUBETIC, KAREN NICOLE

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