Browsing by Author "Poggi, Helena"

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    3-Epi-25 Serum 25-Hydroxyvitamin D3 Concentrations in Chilean Children Between 5 and 8 Years
    (KARGER, 2018) Arancibia, Monica; Seiltgens, Cristian; Poggi, Helena; Allende, Fidel; Solari, Sandra; Peredo, Soledad; Trincado, Claudia; Garcia, Hernan; Moore, Rosario; Dapremont, Ivonne; Andrade, Daniela; Sifaqui, Sofia; Ossa, Jt; Campino, Carmen; Carvajal, Cristian; Fardella, Carlos; Baudrand, Rene; Sanchez, Ximena; Martinez Aguayo, Alejandro
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    A Deletion Encompassing Exon 2 of the ALS Gene: Analysis of a Patient with ALS Deficiency and His Family
    (KARGER, 2018) Poggi, Helena; Arancibia, Monica; Benavides, Felipe; Lagos, Carlos; Vecchiola, Andrea; Dominguez Menendez, Gonzalo; Martinez Aguayo, Alejandro
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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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    ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS
    (2019) Dominguez Menéndez, Gonzalo; Poggi, Helena; Arancibia, Mónica; Benavides, Felipe; Martínez Aguayo, Alejandro Gregorio
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    Aumento aislado y sostenido de aspartato aminotransferasa por presencia de macroenzimas. Caso clínico
    (2016) Bustamante, Verónica; Arab Verdugo, Juan Pablo; Terc, Florencia; Poggi, Helena; Goycoolea, Manuela; Arrese Jiménez, Marco; Quiroga, Teresita; Benítez, Carlos
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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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    Diabetes mellitus caused by a mutation of glucokinase gene. Report of an affected family
    (2017) Pollak Cornejo, Felipe; Lagos, M; Santos Martín, José Luis; Poggi, Helena; Urzúa, A; Rumié Carmi, Hana K.
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    Diagnóstico de la infección por Treponema pallidum en pacientes con sífilis temprana y neurosífilis mediante reacción de la polimerasa en cadena
    (2011) García Cañete, Patricia; Grassi Corrales, Bruno; Fich, Félix; Salvo Lizama, Aurelio Fernando; Araya, Luis; Abarzúa C., Fernando; Soto, Julia; Poggi, Helena; Lagos L., Marcela; Vásquez T., Patricia; Leon C., Eugenia; Pérez C., Carlos; Wozniak Banchero, Aniela
    La sífilis es una enfermedad de transmisión sexual producida por Treponema pallidum, cuyo diagnóstico se realiza presuntivamente basándose en aspectos clínicos y análisis de especificidad limitada. La reacción de la polimerasa en cadena (RPC) ha sido planteada como una alternativa diagnóstica de mayor sensibilidad y especificidad. El objetivo de este trabajo fue validar una RPC para el diagnóstico de sífilis temprana (ST) y neurosífilis (NS). Se utilizaron muestras de lesiones muco-cutáneas y de LCR de pacientes con sospecha de cursar ST y NS respectivamente, previamente diagnosticados, utilizando un estándar de oro ampliado. La RPC fue realizada con partidores dirigidos al gen tpN47. De las 21 muestras de pacientes con ST, la RPC resultó positiva en 20, lo que resulta en una sensibilidad clínica de 95%. De las 8 muestras de pacientes con NS, la RPC resultó positiva en 4, obteniéndose una sensibilidad clínica de 50%. La especificidad clínica para ST y NS fue de 100%. La excelente sensibilidad y especificidad de la RPC para muestras muco-cutáneas permitió la exitosa implementación de este análisis en nuestro laboratorio para el diagnóstico de rutina. Si bien la sensibilidad de la RPC en LCR es baja, es muy útil para apoyar el diagnóstico clínico
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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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    Examen de detección de virus papiloma humano en el tamizaje de cáncer cervicouterino en un Servicio de Salud de Santiago, Chile
    (2015) Terrazas, Solana; Ibáñez Cáceres, Carolina; Lagos, Marcela; Poggi, Helena; Brañes, Jorge; Barriga Cosmelli, María Isabel; Cartagena, Jaime; Núñez, Felipe; González, Francisca; Cook, María Paz; Van De Wyngard, Vanesa; Ferreccio Readi, Catterina; Terrazas, Solana; Ibáñez Cáceres, Carolina; Lagos, Marcela; Poggi, Helena; Brañes, Jorge; Barriga, María I.; Cartagena, Jaime; Núñez, Felipe; González, Francisca; Cook, María Paz; Van De Wyngard, Vanesa; Ferreccio Readi, Catterina
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    Extremely and very preterm children who were born appropriate for gestational age show no differences in cortisol concentrations or diurnal rhythms compared to full-term children
    (2023) Dominguez-Menendez, Gonzalo; Poggi, Helena; Ochoa-Molina, Fernanda; D'Apremont, Ivonne; Moore, Rosario; Allende, Fidel; Solari, Sandra; Martinez-Aguayo, Alejandro
    Objectives: The objective of this study was to compare the diurnal variations in cortisol and cortisone concentrations in serum and saliva among extremely preterm (EPT), very preterm (VPT), and full-term (FT) children, all born appropriate for gestational age (AGA).Methods: EPT, VPT, and FT children, all born AGA, were recruited from two healthcare centers. Cortisol and cortisone concentrations in serum and saliva were measured by liquid chromatography-mass spectrometry (LC-MS). Statistical analysis was performed using nonparametric tests.Results: A total of 101 children (5.0-8.9 years old) were included in this study: EPT=18, VPT=43 and FT=40. All groups had similar distributions in terms of age, birth weight standard deviation score (SDS) and BMI (SDS), showing no differences in serum ACTH, cortisol, or cortisone levels. Additionally, salivary cortisol and cortisone concentrations decreased significantly throughout the day (p values<0.0001). Salivary cortisol concentrations were below the limit of detection (0.55 nmol/L) before dinner and before bedtime in approximately one-third and two-thirds of all children, respectively. Salivary cortisone was detectable in all but one sample.Conclusions: The diurnal cortisol rhythm was preserved in all preterm children, regardless of their gestational age, and no differences in cortisol concentrations among the groups were found. This may have significant implications for the clinical management and follow-up of preterm individuals.
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    Facial Dysmorphic Features in a Patient With Nonketotic Hypoglycemia and a Pathogenic Variant in the AKT2 Gene
    (2022) Molina, Maria Fernanda Ochoa; Poggi, Helena; De Toro, Valeria; Mendoza, Carolina; Hussain, Khalid
    Background/Objective: AKT2 is a serine/threonine kinase that plays a key role in regulating insulin signaling. The phenotype related to the gain-of-function alteration in the AKT2 gene (c.49G>A, p.Glu17Lys) has been described in 5 patients with clinical findings that mimic hyperinsulinemic hypoglycemia but with undetectable levels of insulin and C-peptide. One of the reports highlights the facial dysmorphic features. We report the case of a new patient with the same activating AKT2 alteration leading to autonomous activation of the insulin signaling pathway and dysmorphic features. Moreover, to our knowledge, this is the first report using waxy maize heat-modified starch (WMHMS) in this condition. Case Report: A previously healthy child was evaluated at 6 months of age for episodes of hypoglycemia. The laboratory test results for the critical samples showed hypoketotic hypoglycemia (glucose level, 2.16 mmol/L [38 mg/dL]) with undetectable levels of insulin (<0.2 mU/L) and C-peptide (<0.033 nmol/L [reference range, 0.37-1.47 nmol/L]). Physical examination revealed hypertelorism, prominent proptosis of the eyes, a flat nasal bridge, delayed psychomotor development, and postnatal symmetrical overgrowth. The genetic study of AKT2 showed a pathogenic variant (c.49G>A, p.Glu17Lys). To achieve euglycemia, a diet of regular uncooked cornstarch (UCCS) carbohydrate was started. Subsequently, waxy maize heat-modified starch (WMHMS; Glycosade Vitaflo) was used to increase the fasting period to 4 hours. However, we did not find any advantages in comparison with UCCS. Discussion: The range of phenotypes of this gain-of-function alteration in AKT2 may be broad, including dysmorphic features, although the patients harbor the same pathogenic variant. Conclusion: Regarding the treatment, we observed a similar response with WMHMS compared with UCCS, with no adverse effects. (c) 2021 AACE. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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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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    Identification of cystic fibrosis transmembrane regulator (CFTR) mutations in Chilean patients with cystic fibrosis
    (SOC MEDICA SANTIAGO, 2001) Repetto Lisboa, María Gabriela; Poggi, Helena; Harris D., Paul R.; Navarro M., Héctor; Sánchez Díaz, Ignacio; Guiraldes Cameratti, Ernesto; Pérez Hernández, María Angélica; Boza Costagliola, María Lina; Foradori, Arnaldo; Hunter M., Bessie
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    Insulin resistance parameters in children born very preterm and adequate for gestational age
    (WILEY, 2022) Garcia, Hernan; Loureiro, Carolina; Poggi, Helena; D'Apremont, Ivonne; Moore, Rosario; Ossa, Jose Tomas; Bruera, Maria Jose; Peredo, Soledad; Carvajal, Jacqueline; Trincado, Claudia; Martinez Aguayo, Alejandro
    Background Preterm neonates are at risk for metabolic syndrome later in life. Whether prematurity constitutes an independent risk factor for the development of cardiovascular disease and metabolic syndrome remains controversial. Objective To compare anthropometric measures, cardiometabolic risk factors and insulin resistance variables between children who were born very preterm (VPT, <32 gestational weeks) and at term (Term, >37 gestational weeks) and adequate for gestational age (AGA). Methods We designed a cross-sectional cohort study, recruiting 120 children (5.0-8.5 years old) from the preterm clinic at Red de Salud UC-Christus and Complejo Asistencial Dr. Sotero del Rio, and term children from the community. We excluded children born small for gestational age, based on INTERGROWTH21. Anthropometrics data were classified using WHO reference standards. The homeostasis model assessment insulin resistance (HOMA-IR) index, quantitative insulin sensitivity check index (QUICKI), triglyceride-to-HDL-C ratio (TG/HDL-C) and Pediatric Score Index for Metabolic Syndrome (PsiMS) were calculated. Results VPT children born AGA had lower HDL cholesterol levels (p = .019) and a higher PsiMS score than those born at term (p = .043). We observed a higher percentage of children with HDL cholesterol <= 40 mg/dl (13.0% vs. 2.3%, p = .026) and BP >= 90th percentile among the VPT children than among the Term children (26.0% vs. 11.6%, p = .031). Conclusions At school age, blood pressure was higher, and HDL-C was lower among VPT children born AGA, suggesting a potential metabolic risk; therefore, it is essential to follow this group throughout their lives.
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    Insulin Resistance Parameters in Children Who Were Born Very Preterm and Adequate for Gestational Age
    (KARGER, 2018) Garcia, Hernan; Poggi, Helena; Arancibia, Monica; Peredo, Soledad; Trincado, Claudia; Moore, Rosario; D'Apremont, Ivonne; Andrade, Daniela; Sifaqui, Sofia; Ossa, J. T.; Campino, Carmen; Carvajal, Cristian; Fardella, Carlos; Baudrand, Rene; Solari, Sandra; Allende, Fidel; Martinez Aguayo, Alejandro
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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.