Browsing by Author "Poggi, Helena"

Now showing 1 - 11 of 11
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    A deletion of more than 800 kb is the most recurrent mutation in chilean patients with SHOX gene defects
    (2015) Poggi, Helena; Vera, A.; Avalos, C.; Lagos, M.; Mellado Sagredo, Cecilia; Aracena Álvarez, Mariana Inés; Aravena, T.; García Bruce, Hernán; Godoy Cortés, Claudia Loreto; Cattani Ortega, Andreina; Reyes, L.; Lacourt, P.; Rumié Carmi, Hana K.; Mericq, V.; Arriaza, M.; Martinez-Aguayo, A.
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    A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
    (2014) Martínez Aguayo, Alejandro Gregorio; Poggi, Helena; Cattani Ortega, Andreina; Molina, M.; Romeo, A.; Lagos Lucero, Sonia Marcela
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    Correlación genotipo-fenotipo de un grupo de pacientes con fibrosis quística
    (Soc. Médica Santiago, 2002) Navarro M., Héctor; Kolbach Rengifo, Marianne Helene; Repetto Lisboa, María Gabriela; Guiraldes Cameratti, Ernesto; Harris D., Paul R.; Foradori, Arnaldo; Poggi, Helena; Sánchez Díaz, Ignacio
    Background: Cystic fibrosis (CF) is the most common lethal autosomic disease in Caucasians, with a global incidence of 1:3000 newborns. More than 900 mutations have been described, involving the Cystic Fibrosis Transmembrane Regulator (CFTR). The delta F508 mutation is present in 60% of alleles studied worldwide.Aim: To report 25 patients with cystic fibrosis in whom a genetic study was done.Material and methods: Twenty five patients (14 men, aged between 18 months and 25 years) with a diagnosis of cystic fibrosis based on clinical features plus two abnormal sweat tests are reported. The genetic study considered the 20 most common mutations in cystic fibrosis and was done in genomic DNA of peripheral lymphocytes, by polymerase chain reaction.Results: A mutation was found in 75% of analyzed alleles. delta F508 was present in 50% of cases (delta F508/delta F508 in 8 and delta F508/other in 11). When delta F508 was present, pancreatic insufficiency was always a feature and nutritional status was worse. Respiratory involvement was variable, both for homozygous and heterozygous cases. Other severe mutations such as W128X and G542X were related to clinical manifestations similar to those found in delta F508 mutation. Diagnosis was made before six months of age in 12 patients. The clinical presentation was meconium ileus and there was a family history of the disease in most cases. The majority of cases of early diagnosis presented severe mutations, but milder respiratory symptoms and lesser nutritional compromise at the time of assessment.Conclusions: Most patients studied had a severe cystic fibrosis mutation, which was associated with more severe respiratory, pancreatic and nutritional involvement. The early diagnosis of the disease, which would allow to improve the prognosis and the quality of life, must be emphasized.
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    Effect of VKORC1 and CYP2C9 variants on dosage of oral anticoagulants in Chilean individuals
    (2015) Benavides, F.; Grossman, N.; Poggi, Helena; Nieto, E.; Bertran, A.; Araos, D.; Vasquez, M.; Ibarra, I.; Caceres, F.; Lagos Lucero, Sonia Marcela; Espinoza, K.; Repetto, G.
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    Higher Dehydroepiandrosterone Levels in Prepubertal Children Born Very Preterm
    (KARGER, 2018) Mericq, Veronica; Martinez Aguayo, Alejandro; Iniguez, German; Poggi, Helena; D'Apremont, Ivonne; Moore, Rosario; Arancibia, Monica; Garcia, Hernan; Peredo, Soledad; Trincado, Claudia; Sifaqui, Sofia; Tomas Ossa, Jose; Fardella, Carlos; Carvajal, Cristian; Campino, Carmen; Baudrand, Rene; Solari, Sandra; Allende, Fidel
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    HLA-B*5701 frequency in Chilean HIV-infected patients and in general population
    (CONTEXTO, 2010) Poggi, Helena; Vera, Alejandra; Lagos, Marcela; Solari, Sandra; Rodriguez P, Luis; Perez, Carlos M.
    It has been demonstrated that HLA-B*5701 screening reduces the risk for hypersensitivity reaction to abacavir in HIV-infected patients. Since B*5701 prevalence varies among different populations, it is important to determine the carrier frequency prior to its use for the screening of HIV-infected patients. The aim of this study was to determine HLA-B*5701 carrier frequency in Chilean general population and HIV-infected patients referred for B*5701 typing. For that purpose 300 blood bank donors and 492 abacavir-naive HIV-infected patients from Chile were screened for B*5701 by a sequence specific primer PCR. We detected 14/300 (4.7%) B*57-positive individuals in the Chilean general population, 11 (3.7%) were B*5701 positive, and 3 (1%) had another subtype. All were heterozygous, thus a B*5701 allele frequency of 2% was determined. Eleven of 492 (2.2 %) HIV-patients carried a B*5701 allele. The difference between these frequencies is probably due to slow progression of HIV infection in HLA-B*5701 carriers, thus less patients would require antiretroviral therapy and B*5701 typing. Considering the usefulness of B*5701 screening, its prevalence in the Chilean general population, and the availability of a validated method, we conclude that HLA-B*5701 typing in Chilean HIV-infected patients about to initiate abacavir treatment is strongly recommended.
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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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    Quality of Life in Chilean Transgender Children and Adolescents
    (KARGER, 2022) Mendoza, Carolina; Poggi, Helena; Flores, Monica; Morales, Cristobal; Martinez Aguayo, Alejandro
    Introduction: Transgender (TG) children and adolescents experience problems in school as well as with family and social relationships that can adversely affect their physical and psychosocial health and impair their quality of life (QoL). This study aimed to assess health-related quality of life (HRQoL) in TG children. Methods: We performed a cross-sectional study comparing HRQoL in gender non-conforming (Trans) and gender-conforming (CIS) children and adolescents using the Spanish version of KIDSCREEN-52 in 120 Chilean Trans and CIS children (aged 8-18 years) and their parents. All scores were standardized according to the KIDSCREEN manual. Results: Among the 100 questionnaires answered, 38 corresponded to children and adolescents aged 8.4-18 years. Twenty-one of them were TG (71% trans males) and 17 were CIS (76% females). Sixty-two parents answered the questionnaires: 33 from families of TG children (PTrans) and 29 from families of CIS children (PCis). Trans children had lower HRQoL scores in all domains than CIS children. The lowest-scoring domains for TG children were "Moods and Emotions," "Psychological Well-Being" and "Social Acceptance," and the highest-scoring domain was "School Environment." The PTrans group had significantly higher scores than the Trans group for 3 of the 10 domains: "Psychological Well-Being," "Moods and Emotions," and "Parent Relations and Home Life." Conclusion: Our results revealed that TG children and adolescents have lower QoL than their CIS counterparts, especially regarding items related to mental health. Furthermore, their parents may underestimate their well-being, confirming the vulnerability of the TG population. This finding underlies the need to perform early assessments of QoL for early detection and intervention in aspects that could deteriorate their quality of life.
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    Risk Factors Associated With Invasive Fungal Disease in Children With Cancer and Febrile Neutropenia A Prospective Multicenter Evaluation
    (LIPPINCOTT WILLIAMS & WILKINS, 2010) Villarroel, Milena; Aviles, Carmen L.; Silva, Pamela; Guzman, Ana M.; Poggi, Helena; Alvarez, Ana M.; Becker, Ana; O'Ryan, Miguel; Salgado, Carmen; Topelberg, Santiago; Tordecilla, Juan; Varas, Monica; Viviani, Tamara; Zubieta, Marcela; Santolaya, Maria E.
    Background: Empiric antifungal treatment has become standard of care in children with cancer and prolonged fever and febrile neutropenia (FN), with the downside that it leads to significant over treatment. We characterized epidemiologic, clinical, and laboratory features of invasive fungal disease (IFD) in children with cancer and FN with the aim to identify risk factors for IFD that can aid in better selecting children who require antifungal treatment.
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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
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    Seasonal 25-hydroxy Vitamin D3 variations in school-aged children from Santiago de Chile
    (KARGER, 2019) Poggi, Helena; Dominguez, Gonzalo; Monica, Arancibia; Moore, Rosario; D'Apremont, Ivonne; Solari, Sandra; Allende, Fidel; Sifaqui, Sofia; Garcia, Hernan; Martinez Aguayo, Alejandro