Browsing by Author "Lagos Lucero, Marcela"

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    An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families
    (2013) Matus Ritter, Valeria; Valenzuela, G.; Sáez S., Claudia; Hidalgo, P.; Lagos Lucero, Marcela; Aranda Lauriani, Eduardo Javier; Panes Becerra, Olga Teresa; Pereira Garcés, Jaime Ignacio; Pillois, X.; Nurden, A.; Mezzano, Diego
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    Genetic testing for indeterminate thyroid cytology: review and meta-analysis.
    (2018) Vargas Salas, Sergio; Martinez, Jose R.; Urra, Soledad; Domínguez Ruiz-Tagle, José Miguel; Mena, Natalia; Uslar, Thomas; Lagos Lucero, Marcela; Henríquez Henríquez, Marcela Patricia; González Díaz, Hernán
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    HPV vaginal self-sampling among women non-adherent to Papanicolaou screening in Chile
    (2013) Léniz Martelli, Javiera; Barriga Cosmelli, María Isabel; Lagos Lucero, Marcela; Ibáñez Cáceres, Carolina; Puschel Illanes, Klaus; Catterina Ferreccio
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    HPV16/18 genotyping for the triage of HPV positive women in primary cervical cancer screening in Chile
    (2015) Lagos Lucero, Marcela; Van De Wyngard, Vanessa; Poggi, Helena; Cook, María Paz; Viviani García, Paola; Barriga Cosmelli, María Isabel; Ferreccio Readi, Catterina; Pruyas, Martha; Lagos Lucero, Marcela; Van De Wyngard, Vanessa; Poggi, Helena; Cook, María Paz; Viviani, Paola; Barriga, María I.; Ferreccio Readi, Catterina; Pruyas, Martha
    Abstract Background We previously conducted a population-based screening trial of high-risk human papillomavirus (hrHPV) testing and conventional cytology, demonstrating higher sensitivity (92.7 % vs 22.1 % for CIN2+) but lower positive predictive value (10.5 % vs 23.9 %) of hrHPV testing. Here we report the performance of HPV16/18 genotyping to triage the hrHPV positive participants. Methods Women aged 25 years and older received hrHPV (Hybrid Capture 2) and Papanicolaou testing; positives by either test underwent colposcopy and directed biopsy, as did a sample of double-negatives. hrHPV positive women were reflex-tested with HPV16/18 genotyping (Digene HPV Genotyping PS Test). Results Among the 8,265 participants, 10.7 % were hrHPV positive, 1.7 % had ASCUS+ cytology, 1.2 % had CIN2+; 776 (88 %) hrHPV positive women had complete results, of whom 38.8 % were positive for HPV16 (24.0 %), HPV18 (9.7 %) or both (5.1 %). CIN2+ prevalence in HPV16/18 positive women (16.3 %, 95 % CI 12.3-20.9) was twice that of HPV16/18 negative women (8.0 %, 95 % CI 5.7-10.8). HPV16/18 genotyping identified 40.5 % of CIN2, 66.7 % of CIN3 and 75.0 % of cancers. Compared to hrHPV screening alone, HPV16/18 triage significantly reduced the referral rate (10.7 % vs 3.7 %) and the number of colposcopies required to detect one CIN2+ (9 vs 6). When HPV16/18 negative women with baseline ASCUS+ cytology were also colposcopied, an additional 14 % of CIN2+ was identified; referral increased slightly to 4.2 %. Conclusions HPV16/18 triage effectively stratified hrHPV positive women by their risk of high-grade lesions. HPV16/18 positive women must be referred immediately; referral could be deferred in HPV16/18 negative women given the slower progression of non-HPV16/18 lesions, however, they will require active follow-up.Abstract Background We previously conducted a population-based screening trial of high-risk human papillomavirus (hrHPV) testing and conventional cytology, demonstrating higher sensitivity (92.7 % vs 22.1 % for CIN2+) but lower positive predictive value (10.5 % vs 23.9 %) of hrHPV testing. Here we report the performance of HPV16/18 genotyping to triage the hrHPV positive participants. Methods Women aged 25 years and older received hrHPV (Hybrid Capture 2) and Papanicolaou testing; positives by either test underwent colposcopy and directed biopsy, as did a sample of double-negatives. hrHPV positive women were reflex-tested with HPV16/18 genotyping (Digene HPV Genotyping PS Test). Results Among the 8,265 participants, 10.7 % were hrHPV positive, 1.7 % had ASCUS+ cytology, 1.2 % had CIN2+; 776 (88 %) hrHPV positive women had complete results, of whom 38.8 % were positive for HPV16 (24.0 %), HPV18 (9.7 %) or both (5.1 %). CIN2+ prevalence in HPV16/18 positive women (16.3 %, 95 % CI 12.3-20.9) was twice that of HPV16/18 negative women (8.0 %, 95 % CI 5.7-10.8). HPV16/18 genotyping identified 40.5 % of CIN2, 66.7 % of CIN3 and 75.0 % of cancers. Compared to hrHPV screening alone, HPV16/18 triage significantly reduced the referral rate (10.7 % vs 3.7 %) and the number of colposcopies required to detect one CIN2+ (9 vs 6). When HPV16/18 negative women with baseline ASCUS+ cytology were also colposcopied, an additional 14 % of CIN2+ was identified; referral increased slightly to 4.2 %. Conclusions HPV16/18 triage effectively stratified hrHPV positive women by their risk of high-grade lesions. HPV16/18 positive women must be referred immediately; referral could be deferred in HPV16/18 negative women given the slower progression of non-HPV16/18 lesions, however, they will require active follow-up.
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    Large mitochondrial DNA deletion in an infant with addison disease
    (Springer, 2012) Durán Saavedra, Gloria Patricia; Martínez Aguayo, Alejandro; Poggi, Helena; Lagos Lucero, Marcela; Gutiérrez, D.; Harris D., Paul R.
    Background: Mitochondrial diseases are a group of disorders caused by mutations in nuclear DNA or mitochondrial DNA, usually involving multiple organ systems. Primary adrenal insufficiency due to mitochondrial disease is extremely infrequent and has been reported in association with mitochondrial DNA deletion syndromes such as Kearns–Sayre syndrome. Aim: To report a 3-year-old boy with Addison disease, congenital glaucoma, chronic pancreatitis, and mitochondrial myopathy due to large mitochondrial DNA deletion. Method: Molecular analysis of mitochondrial DNA samples obtained from peripheral blood, oral mucosa, and muscle tissue. Results: A novel large mitochondrial DNA deletion of 7,372bp was identified involving almost all genes on the big arch of mtDNA. Conclusions: This case reaffirms the association of adrenal insufficiency and mitochondrial DNA deletions and presents new evidence that glaucoma is another manifestation of mitochondrial diseases. Due to the genetic and clinical heterogeneity of mitochondrial disorders, molecular analysis is crucial to confirm diagnosis and to allow accurate genetic counseling.
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    Screening trial of human papillomavirus for early detection of cervical cancer in Santiago, Chile
    (2013) Ferreccio Readi, Catterina; Barriga Cosmelli, María Isabel; Lagos Lucero, Marcela; Ibáñez Cáceres, Carolina; Poggi, Helena; González, F.; Terrazas Martins, Solana; Katki, H.; Núñez, F.; Cartagena, J.; Van De Wyngard, V.; Vinales, D.; Brañes, Jorge