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au:Kremer, Raquel de

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Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients
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Laróvere, Laura E.

; Fairbanks, Lynette D.

; Jinnah, H. A.

; Guelbert, Norberto B.

; Escuredo, Emilia

; Becerra, Adriana

; Kremer, Raquel Dodelson de

Journal of Inborn Errors of Metabolism and Screening

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2021, Volume 9 elocation e20200027

Abstract: En | Text: En | PDF: En

Abstract Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyperuricemia (HRH). The objective of this study was to characterize a cohort of Argentine patients with HPRT deficiency diagnosed in a single center. Results: Twenty nine patients were studied, including 12 LND, 15 HND and 2 HRH. The average onset age was 0.64 years for LND with motor delay as the main manifestation, 8.84 years for HND and 2.5 years for HRH; nephrological manifestations predominated as presenting features in these variants. The average diagnosis age was 3.58 years for LND, 17.21 years for HND and 2.5 years for HRH. Clinical heterogeneity was more evident in HND, even in members of the same family. All patients presented hyperuricemia and no detectable HPRT activity in erythrocyte lysate. The molecular study allowed to identify 9 different mutations in HPRT1 gene from 24 patients (11 independent pedigrees) and to establish genotype-phenotype correlation. In conclusion, this study describes the genotypic/phenotypic spectrum of HPRT deficiency in Argentine patients and highlights the need to increase awareness about the suspicion of these diseases, especially the LND variants with high clinical heterogeneity.

https://doi.org/10.1590/2326-4594-jiems-2020-0027 402 downloads

Immunohistochemical assessment of symptomatic postmenopausal endometrial polyps in tamoxifen users and nonusers: a case control study
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Dibi, Raquel Papandreus

; Zettler, Claudio Galleano

; Vanin, Carla Maria de Martini

; Ribeiro, Rafaela Vanin Pinto

; Oliveira, Júlia Monteiro de

; Kremer, Thaysa Guglieri

; Borges, Josiane

; Kato, Sérgio Kakuta

Sao Paulo Medical Journal

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feb 2020, Volume 138 N. 1 Pages 64 - 68

Abstract: En | Text: En | PDF: En

ABSTRACT BACKGROUND: Endometrial polyps are common in postmenopausal women, and the effect of tamoxifen use (a risk factor for endometrial polyps) on their pathogenesis is unclear. OBJECTIVES: To evaluate the expression of hormone receptors and markers for proliferation/apoptosis (Ki-67 and Bcl-2) in endometrial polyps in postmenopausal users and nonusers of tamoxifen. DESIGN AND SETTING: Cross-sectional analytical study in a tertiary-level academic hospital. METHODS: 46 women (14 tamoxifen users and 32 nonusers) with postmenopausal bleeding underwent hysteroscopic resection of endometrial polyps. Polyp samples were immunohistochemically assessed for detection of Ki-67, Bcl-2 and estrogen and progesterone receptors. RESULTS: Analysis on the glandular component of the polyps revealed progesterone receptor expression in the polyps of 96.9% of the nonusers of tamoxifen, and 92.3% of the tamoxifen users (P = 0.499). All polyps in nonusers and 92.3% of those in users were also positive for estrogen receptors (P = 0.295). Ki-67 was expressed in 75% of the polyps in the tamoxifen users and 82.8% of those in the nonusers. All endometrial polyps expressed Bcl-2. CONCLUSIONS: The immunohistochemical analysis on endometrial polyps demonstrated that, although tamoxifen is considered to be a risk factor for endometrial polyps, there were no significant differences in the expression of hormone receptors between users and nonusers of tamoxifen. There were no between-group differences in Ki-67 and Bcl-2 expression, and all patients displayed inhibition of apoptosis by Bcl-2, thus supporting the theory that polyps develop due to inhibition of apoptosis, and not through cell proliferation.

https://doi.org/10.1590/1516-3180.2018.0346.r4.19112019 469 downloads

Isthmocele: an overview of diagnosis and treatment
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Kremer, Thaysa Guglieri

; Ghiorzi, Isadora Bueloni

; Dibi, Raquel Papandreus

Revista da Associação Médica Brasileira

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may 2019, Volume 65 N. 5 Pages 714 - 721

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

RESUMO A istmocele ou nicho uterino é representada por uma descontinuidade miometrial ou um defeito anecoico triangular na parede uterina anterior, com a base se comunicando com a cavidade uterina no local de uma cicatriz anterior de cesárea. O defeito pode ser classificado como pequeno ou grande, dependendo da espessura da parede miometrial deficiente. Embora geralmente assintomático, seu principal sintoma é o sangramento uterino anormal ou pós-menstrual; a dor pélvica crônica também pode ocorrer. Infertilidade, placenta acreta ou prévia, deiscência de cicatriz, ruptura uterina e gravidez ectópica em cicatriz de cesárea prévia também podem aparecer como complicações dessa condição. Os fatores de risco para desenvolvimento da istmocele comprovados até o momento incluem útero retroverso e múltiplas cesarianas. No entanto, fatores como localização mais inferior de uma cesárea prévia, fechamento incompleto da histerotomia, aderências precoces na parede uterina e predisposição genética também podem contribuir para o desenvolvimento de um nicho. Como não existem critérios definitivos para o diagnóstico de uma istmocele, vários métodos de imagem podem ser usados para avaliar a integridade da parede uterina e, assim, diagnosticar uma istmocele. Entretanto, ultrassonografia transvaginal e sono-histerografia com infusão salina surgem como métodos específicos, sensíveis e custo-efetivos para o diagnóstico de istmocele. O tratamento inclui manejo clínico ou cirúrgico, dependendo do tamanho do defeito, da presença de sintomas, da presença de infertilidade secundária e de planos de gravidez. O manejo cirúrgico inclui abordagens minimamente invasivas como histeroscopia, laparoscopia ou transvaginal, de acordo com o tamanho do defeito.

SUMMARY An isthmocele, a cesarean scar defect or uterine niche, is any indentation representing myometrial discontinuity or a triangular anechoic defect in the anterior uterine wall, with the base communicating to the uterine cavity, at the site of a previous cesarean section scar. It can be classified as a small or large defect, depending on the wall thickness of the myometrial deficiency. Although usually asymptomatic, its primary symptom is abnormal or postmenstrual bleeding, and chronic pelvic pain may also occur. Infertility, placenta accrete or praevia, scar dehiscence, uterine rupture, and cesarean scar ectopic pregnancy may also appear as complications of this condition. The risk factors of isthmocele proven to date include retroflexed uterus and multiple cesarean sections. Nevertheless, factors such as a lower position of cesarean section, incomplete closure of the hysterotomy, early adhesions of the uterine wall and a genetic predisposition may also contribute to the development of a niche. As there are no definitive criteria for diagnosing an isthmocele, several imaging methods can be used to assess the integrity of the uterine wall and thus diagnose an isthmocele. However, transvaginal ultrasound and saline infusion sonohysterography emerge as specific, sensitive and cost-effective methods to diagnose isthmocele. The treatment includes clinical or surgical management, depending on the size of the defect, the presence of symptoms, the presence of secondary infertility and plans of childbearing. Surgical management includes minimally invasive approaches with sparing techniques such as hysteroscopic, laparoscopic or transvaginal procedures according to the defect size.

https://doi.org/10.1590/1806-9282.65.5.714 15719 downloads

Germinação, desenvolvimento inicial e morfoanatomia de cactáceas epifíticas
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Cury, Raquel Kremer

; Randi, Aurea Maria

; Santos, Marisa

Rodriguésia

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dec 2018, Volume 69 N. 4 Pages 2119 - 2135

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Resumo Cactáceas epífitas com potencial ornamental são encontradas na Mata Atlântica brasileira. As diferenças no processo de germinação e desenvolvimento inicial, entre espécies vegetais são de interesse na produção e estabelecimento de mudas. Este estudo teve por objetivo investigar a germinação e o desenvolvimento pós-seminal in vitro, em água e ágar, e a morfoanatomia do caule de indivíduos adultos, crescendo no ambiente natural de Rhipsalis neves-armondii, Rhipsalis teres e Lepismium cruciforme, ocorrentes em Santa Catarina. Análises do crescimento e desenvolvimento foram determinadas por medidas de comprimento, massa seca, teor de clorofilas e carotenóides. Análises anatômicas do hipocótilo e caule foram obtidas por secções transversais e paradérmicas utilizando técnicas clássicas. O desenvolvimento de plântulas, em água e ágar, indicou ser indispensável a incrementação de nutrientes, pois as substâncias de reserva foram exauridas até os 60 dias de cultivo. Em ágar, as sementes de R. neves-armondii não germinaram. Características anatômicas do hipocótilo das plântulas, bem como do caule dos indivíduos adultos, de R. teres e L. cruciforme foram similares. Cutícula espessa e parênquima aquífero constatados no hipocótilo e nos caules são características xéricas, importantes para economia hídrica destas epífitas que são protegidas da irradiação solar pelo forófito, mas com limitação de disponibilidade água.

Abstract Epiphytic Cactaceae with ornamental potential are found in the Brazilian Atlantic Forest. Differences in the germination process and post-initial development among plant species are of interest in the production and establishment of seedlings. This study aimed to investigate the germination and post-seminal development in vitro, in water and agar, and the stem morpho-anatomy of adult individuals growing in the natural environment of Rhipsalis neves-armondii, R. teres and L. cruciform, occurring in Santa Catarina. Growth and development analyzes were determined by measurements of length, biomass, chlorophyll and carotenoid content. Anatomical analyzes of the hypocotyl and stem were obtained by cross - sections and parsimony using classical techniques. The development of seedlings in water and in agar, indicated that it is indispensable to increase nutrients, because the reserve substances were depleted until 60 days of cultivation. In agar, the seeds of R. neves-armondii did not germinate. Anatomical features of the hypocotyl of R. teres and L. cruciforme seedlings were similar. The stem of these species adult individuals also revealed a similar histological constitution. Cuticle thick and water-storage parenchyma verified in the hypocotyl of the seedlings and the stems of adult plants are xeric characteristics, important for water economy of these epiphytes that are protected of the solar irradiation by the phorophyte, but with limitation of water availability.

https://doi.org/10.1590/2175-7860201869441 1882 downloads

Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience
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Laróvere, Laura E.

; Ruiz, Silene M. Silvera

; Arranz, José A.

; Kremer, Raquel Dodelson de

Journal of Inborn Errors of Metabolism and Screening

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2018, Volume 6 elocation e18009

Abstract: En | Text: En | PDF: En

Abstract X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Hemizygous males with complete deficiency manifest neonatal acute hyperammonemia, while those with partial deficiency have a late presentation. The symptomatology of heterozygotes depends on the inactivation pattern of X chromosome. Hyperammonemic episodes can cause neurological damage and are potentially fatal. Here, we match clinical, biochemical, and molecular findings with bioinformatics analyses to report genotype-phenotype correlations in 14 Argentine patients with OTCD from 11 unrelated families: 4 hemizygotes with neonatal onset (complete OTC gene deletion, 533C > T, c.540+1G > A, c.697delG); 4 hemizygotes with late onset (c.216+1G > A, c.386G > A, c.622G > A, c.829C > T); and 6 symptomatic heterozygotes (complete OTC gene deletion, c.533C > T, c.452T > G, c.540+1G > A, dupE1-9/delE10). Three of these mutations were previously unreported: c.540+1G > A, c.697delG, and dup1-9/del10. Our data highlight the relevance of combining molecular and bioinformatics analyses for accurate diagnosis and outcome prediction in suspected patients with OTCD and the importance of carrier testing for effective genetic counseling.

https://doi.org/10.1177/2326409818813177 2091 downloads

High-Risk Screening and Diagnosis of Inborn Errors of Metabolism: A Practical Guide for Laboratories
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Civallero, Gabriel

; Kremer, Raquel de

; Giugliani, Roberto

Journal of Inborn Errors of Metabolism and Screening

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2018, Volume 6 elocation e180010

Abstract: En | Text: En | PDF: En

Abstract Inborn errors of metabolism (IEM) are a large and heterogeneous group of genetic diseases. In most of these conditions, the presence of variants in specific genes leads to enzyme deficiencies that affect a particular metabolic step. The number of laboratories dedicated to the study of IEM is very limited worldwide, and its multiplication is urgently required for a more effective diagnosis. With the scarcity of specialized centers, the diagnosis of affected individuals comes too late or does not happen at all. Moreover, the biological samples have to travel long distances, compromising its quality and delaying still more the diagnosis. In this work, we suggest a practical guide for a basic biochemical laboratory to get involved in the study of IEM. This proposal was based on already described metabolic tests and involves the need of just a few, simple, and affordable instruments that can give an enormous quantity of information about the possible metabolic defect faced, such as a spectrophotofluorometer and a gas chromatography/mass spectrometry (GC/MS) instrument. The procedures proposed can be customized and adapted to particular needs and situations, which make it especially useful for developing countries.

https://doi.org/10.1177/2326409818792065 1361 downloads

Variante juvenil de la enfermedad de Sandhoff: presentación del primer caso descrito en Argentina
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Mugnaini, Julia

; Pereyra, Marcela

; Dodelson de Kremer, Raquel

; Gamboni, Beatriz

; Argaraña, Carlos E

; Oller Ramírez, Ana M

Archivos argentinos de pediatría

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oct 2017, Volume 115 N. 5 Pages e298 - e301

Abstract: En Es | Text: En Es | PDF: En | PDF: Es

Sandhoff disease is a neurodegenerative, lysosomal and autosomal recessive disease caused by mutations in the HEXB gene. Three forms are recognized: infantile, juvenile and adult. Previously, an endogamous population in Córdoba, Argentina, was identified with a high incidence of Sandhoff disease, all reported cases were of the infantile type. In this work, we describe a child with the juvenile form of Sandhoff disease, the first case reported in Argentina. The patient is a 7-year-old boy presenting with ataxia, speech disturbances and global developmental delay, symptoms starting at the age of 2 years. Diagnosis was based on the hexosaminidase deficiency. Sequencing of genomic DNA revealed compound heterozygosity for two HEXB gene mutations: c.796T>G (p.Y266D) and c.1615C>T (p.R539C), both already reported.

La enfermedad de Sandhoff es una patología neurodegenerativa, de almacenamiento lisosomal, causada por mutaciones en el gen HEXB. Existen tres formas clínicas: infantil, juvenil y adulta. Previamente, fue identificada una población endogámica en la provincia de Córdoba, Argentina, que presentaba una alta incidencia de la enfermedad; todos los casos correspondieron a la forma infantil. En este trabajo, se presenta por primera vez el caso de un paciente argentino con la variante juvenil de la enfermedad de Sandhoff. El paciente es un niño de 7 años que, a partir de los 2, presentó ataxia, trastorno del habla y retraso global en el desarrollo. El diagnóstico se confirmó con la detección de valores residuales de enzima hexosaminidasa y con la identificación de dos mutaciones ya descritas en estado de heterocigosis: c.796T>G (p.Y266D) y c.1615C>T (p.R539C).

https://doi.org/10.5546/aap.2017.e298 723 downloads

Creatine metabolism: detection of creatine and guanidinoacetate in saliva of healthy subjects
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Martínez, Lidia D

; Bezard, Miriam

; Brunotto, Mabel

; Dodelson de Kremer, Raquel

Acta Odontológica Latinoamericana

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apr 2016, Volume 29 N. 1 Pages 49 - 53

Abstract: En Es | Text: En Es | PDF: En | PDF: Es

Creatine (Cr) plays an important role in storage and transmission of phosphate-bound energy. Cerebral creatine deficiency syndromes comprise three inherited defects in Cr biosynthesis and transport. The aim of this study was to investigate whether Cr and Guanidinoacetate (GAA) can be detected in saliva of healthy subjects and to establish the relationship between salivary and plasma levels of these molecules. An adapted gas chromatography (GC) method is described for the quantification of Cr and GAA biomarkers in saliva. Reference values were established for GAA and Cr in saliva. These values were age dependent (p= 0.001). No difference between genders was observed. We detected a difference between GAA and Cr concentrations in saliva and in plasma. The GC method for simultaneous determination of GAA and Cr in human saliva is fast, reliable, sensitive, non-invasive and precise to use as a biochemical approach in early detection of cerebral creatine deficiency syndromes.

La creatina (Cr) juega un importante rol en el almacenamiento y el transporte de energía unida al fosfato. Los síndromes de deficiencia de creatina cerebral comprenden tres defectos genéticos en la biosíntesis y transporte de creatina. Es propósito de este estudio investigar si el guanidinoacetato (GAA) y la Cr pueden ser detectados en saliva de sujetos sanos e investigar la relación entre los valores de GAA y Cr en saliva con los niveles en plasma de estas moléculas. Se describe un método modificado de cromatografía gaseosa para la cuantificación de los biomarca - dores, Cr y GAA en este biofluído. Se establecieron valores de referencia para GAA y Cr. Estos valores dependen de la edad (P=0.001). No se observaron diferencias entre género. Se detectó una diferencia entre la concentración de GAA y Cr en saliva con respecto al plasma. El método adaptado de cromatografía gaseosa para la determinación simultánea de GAA y Cr en saliva humana es fácil, seguro, sensible, no invasivo y preciso para utilizar como aproximación bioquímica en la detección temprana de los síndromes de deficiencia de creatina cerebral.

687 downloads

Impact of CPS1 Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia
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Silvera-Ruiz, Silene M.

; Grosso, Carola L.

; Kremer, Raquel Dodelson De

; Laróvere, Laura E.

Journal of Inborn Errors of Metabolism and Screening

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2015, Volume 3 elocation e140017

Abstract: En | Text: En | PDF: En

Abstract Carbamoyl phosphate synthetase 1 (CPS1) is a key gene in the first step of urea cycle and has been correlated with nitric oxide level and vascular smooth muscle activity. A functional single-nucleotide polymorphism C/A at position 4217 in CPS1 (National Center for Biotechnology Information SNP database no. rs7422339, T1405N) was reported to be associated with high homocysteine (Hcy) plasma values. Although genetic variants of methylenetetrahydrofolate reductase (MTHFR) gene are known to influence Hcy concentration, other genetic determinants of Hcy remain largely unknown. The association between the CPS1 rs7422339 and the risk of hyperhomocysteinemia in Latin American populations is unknown. Here, we study this association in 100 patients having hyperhomocysteinemia without MTHFR c.677C>T polymorphism and 100 controls. CPS1 rs7422339 was studied using polymerase chain reaction and enzymatic restriction. Comparisons of the CPS1 rs7422339 genotype distributions revealed a significant difference between groups (P = 2.3 × 10−3). Patients carrying polymorphic allele showed almost 3 times higher risk (odds ratio [OR] = 2.47) of hyperhomocysteinemia than wild-type allele, suggesting that rs7422339 SNP is associated with high Hcy levels in the Argentine population.

https://doi.org/10.1177/2326409815586253 1634 downloads

10.

Fibrosis quística: diagnóstico molecular en 93 pacientes argentinos y detección familiar de portadores. Impacto asistencial y proyección a nuevos avances terapéuticos
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Oller de Ramírez, Ana M

; Ghio, Addy

; Melano de Botelli, Myrna

; Dodelson de Kremer, Raquel

Archivos argentinos de pediatría

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aug 2008, Volume 106 N. 4 Pages 310 - 319

Abstract: En Es | Text: En Es | PDF: En | PDF: Es

Introduction. The cystic fibrosis is an autosomal recessive disease caused by more than 1500 mutations and variants in the cystic fibrosis transmembrane conductance regulator gene. Objectives. To establish the spectrum and frequency of mutations on this gene in Argentinean patients.To detect heterozygotes in affected families. Patients and methods. We investigated 91 clinical and biochemically confirmed patients with 2 elevated sweat tests and 2 sterile adults. We worked with 165 relatives. The molecular diagnosis was accomplished in 3 serial stages: a) determination of 29 frequent mutations; b) haplotypes for microsatellites; c) an extensive screening of gene through single strand conformation analysis and multiplex denaturing gradient gel electrophoresis with sequencing of abnormal patterns. Once patient's genotype was confirmed, we investigated the heterozygotes' state in the relatives. Results. 1st Objective: Fourteen mutations were identified. Three more mutations were detected and other 11 mutations were characterized, 3 of them novel (p.G27R, c.622-2A>G, p.W277R). In total, we have identified 28 mutations responsible for 90.3% of the mutated alleles, 14 with a higher frequency than 1%. 2ndObjective: From 165 investigated people, 143 were confirmed as heterozygotes and with normal genotype 22. Conclusions. This work contributed to the molecular characterization of patients with classic and atypical phenotypes and to the detection of great numbers of carriers. New pharmacological therapeutic investigations are based on the mutation type. Therefore, knowledge of patients, mutations (genotype) has significant importance for the future application of specific therapies.

Introducción. La fibrosis quística es una enfermedad autosómica recesiva causada por más de 1.500 mutaciones y variantes en el gen regulador de la conductancia transmembrana. Objetivos. Establecer el espectro y frecuencia de mutaciones en este gen en pacientes argentinos. Detectar portadores en las familias involucradas. Material y métodos. Se investigó en 91 pacientes, clínica y bioquímicamente confirmados con 2 pruebas de sudor positivas y en 2 adultos estériles. Se trabajó con 165 familiares. El diagnóstico molecular comprendió 3 etapas consecutivas: a) determinación de 29 mutaciones frecuentes; b) haplotipos por microsatélites; c) pesquisa completa del gen por análisis conformacional de hebra simple y electroforesis en gel de gradiente desnaturalizante con secuenciamiento de los patrones anormales. Determinado el genotipo de los pacientes, se investigó el estado de portador en los familiares. Resultados.1er Objetivo: Se identificaron 14 mutaciones, se detectaron otras 3 mutaciones y se caracterizaron otras 11 mutaciones, tres de ellas nuevas (p.G27R, c.622-2A>G, p.W277R). En total, se identificaron 28 mutaciones responsables del 90,3% de los alelos mutados, 14 con una frecuencia superior al 1%. 2º Objetivo: De 165 personas investigadas, 143 fueron portadores y 22 con genotipo normal. Conclusiones. Este trabajo contribuyó a la caracterización molecular de pacientes con fenotipos clásicos y atípicos y a la detección de numerosos portadores. Las investigaciones fármaco-terapéuticas recientes se basan en el tipo de mutación. Por lo tanto, conocer las mutaciones de los pacientes (genotipo) tiene significativa importancia para la futura aplicación de terapias específicas.

2055 downloads

11.

Infecciones invasivas por Streptococcus pneumoniae: estudio epidemiológico e importancia del desarrollo de un sistema de vigilancia
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Ruvinsky, Raúl

; Gentile, Angela

; Regueira, Mabel

; Corso, Alejandra

; Ruvinsky, Raúl

; Gentile, Angela

; Regueira, Mabel

; Corso, Alejandra

; Pace, Julio

; Bakir, Julia

; Di Fabio, José Luis

; Rossi, Alicia

; Altschuler, Marta

; González Ayala, Silvia

; Hernández, Claudia

; Rubeglio, Etelvina

; Bologna, Rosa

; Grenón, Sara

; Von Specht, Marta

; Mayoral, Claudia

; Beltramino, Juan Carlos

; Carabajal, Laura

; Silverberg, Raquel

; Rial, María José

; Alarcón, Nora

; Ferrero, Fernando

; Yudowski, Susana

; Tregnaghi, Miguel

; Balbi de Aguirre, Laura

; Aprá, Ernestina Q.

; Vázquez, Mabel

; Galanternic, Laura

; Procopio, Adriana

; Logarzo, Daniel

; Meccia, Aída L.

; Kremer, Clara

; Perez, Carlota

; Cuza, Nélida

; Villagra de Trejo, Ana

; Lura de Calafell, María Cristina

; Pierini de Gaite, Judith

; Fabre, Rosa

; Dalamón, Ricardo

; Bruno, Miriam

; Díaz, Nora

; Noriega, Marta

; Gómez, Diana

Revista de la Sociedad Boliviana de Pediatría

Journal Metrics
- Sobre o periódico
- SciELO Analytics

jun 2004, Volume 43 N. 2 Pages 107 - 115

Abstract: Es En | Text: Es En | PDF: Es | PDF: En

Las infecciones invasivas por Streptococcus pneumoniae (Spn) producen mortalidad elevada en países en desarrollo, con tasas entre 4 y 100 veces mayores que las de Estados Unidos o Canadá. Es el primer agente causal de neumonía en la infancia y de meningitis fuera de los brotes epidémicos por Neisseria meningitidis. La OPS, a través del grupo SIREVA, dedicado al desarrollo de vacunas en Latinoamérica, organizó un programa de vigilancia de infecciones invasivas por Spn en seis países: Argentina, Brasil, Chile, Colombia, México y Uruguay, iniciado en 1993 y que continúa actualmente. En Argentina participan en la actualidad más de 20 centros hospitalarios distribuidos en todas las áreas geográficas del país, actuando como Centro Nacional de referencia para la serotipificación y determinación de la resistencia a los antibióticos el Instituto ANLIS "Dr. Carlos G. Malbrán". Objetivos: 1) Determinar los serotipos predominantes, su resistencia a los antibióticos y los cambios temporales en infecciones invasivas por Spn de niños menores de 5 años de edad. 2) Obtener información confiable para la formulación de una vacuna conjugada adecuada para la región. Metodología: diseño prospectivo observacional. Se incluyeron todos los niños menores de 6 años de edad internados por infecciones invasivas (neumonía, meningitis, sepsis o bacteriemia), en los que se aisló Spn de un sitio previamente estéril. Se realizó control externo de confiabilidad de los resultados, inicialmente en el laboratorio de referencia de Canadá y actualmente en el Instituto Adolfo Lutz de San Pablo. El análisis estadístico se realizó con EPIINFO 6 y con el programa WHONET de OMS. Resultados: se destacan los siguientes hallazgos: Se aisló Spn en 1.390 muestras clínicas. La edad media (N= 1.175) fue de 19,5 meses, con 74,4% - 2 años; fueron neumonías 60,5%; meningitis 26,6%, sepsis 8,2%. Se halló sensibilidad disminuida a penicilina en 32,1% (414/1.288), con resistencia alta 16,1% e intermedia 16%. La resistencia a los antibióticos betalactámicos se incrementó en el período 1993-8. Los serotipos prevalentes fueron: 14 (32,5%), 6A/ 6B, 9V, 23F, 19F, 18C, 4, 5, 1. Los serotipos 14 y 6AB prevalecieron en menores de 2 años mientras que el 5 y el 1 prevalecieron en mayores de 2 años (p <0,001). El serotipo 14, la neumonía y la edad menor de 2 años fueron los factores de riesgo para resistencia a penicilina. La representatividad para las vacunas conjugadas 7-valente, 9-valente y 11-valente fue de 53,3%, 77,4% y 82,6% respectivamente, mayor para la 7-valente en los menores de 2 años (61,2%) y en los menores de 2 años con neumonía (71,2%). Más del 90% de los serotipos aislados con algún grado de resistencia estuvieron contenidos en las tres vacunas analizadas. Conclusiones: un programa nacional de vigilancia de Spn invasivo fue desarrollado en Argentina y otros países latinoamericanos. Se identificaron por primera vez los serotipos predominantes en infecciones invasivas y se comprobó el incremento significativo de la resistencia a penicilina y otros antibióticos, similar a lo informado en casi todos los países del mundo. Se obtuvo información epidemiológica válida para evaluar estrategias de prevención con nuevas vacunas.

Since 1993, the PAHO, through the Regional Vaccine System (SIREVA Group) organized a surveillance protocol of invasive Streptococcus pneumoniae (Spn) infections in children less than 5 years old in six Latin-American countries: Argentina, Brazil, Chile, Colombia, Mexico and Uruguay. In Argentina more than 20 hospitals are now participating in this project. Objectives: 1) to determine the predominant serotypes, the antibiotic resistance and changes along the time. 2) To know the representativity of the serotypes isolated in the new conjugated vaccines. Methodology: children less than 6 years old hospitalized by Spn invasive infections were included (pneumonia, meningitis, bacteremia o sepsis). The ANLISS "Dr. Carlos G. Malbrán" Institute was the reference center for Spn serotyping and antibiotic resistance determination. Results: Spn was isolated from 1.390 clinical samples. The average age was 19.5 months, 74.4% belonged to children equal or less than 2 years of age. The main clinical diagnosis were: pneumonia 60.5%, meningitits 26.6%, fever without foccus (bacteremia) or sepsis 8.2%. Decreased penicillin sensitivity (DPS) was found in 32.1% of the cases, with high resistance in 16.1% and intermediate resistance in 16%; the increase of DPS in the 1993- 98 period was significant, like in other countries. The more frequent serotypes were: 14 (32.5%), 6A/6B, 9V, 23F, 19F, 18C, 4, 5, and 1. Serotypes 14 and 6AB were prevalent in children less than 2 years old and serotypes 5 and 1, in children than 2 years older (p <0.001). Serotype 14, pneumonia and age less than 2 years were risk factors for penicillin resistance. Finally, the representativity of the serotypes in the new conjugated vaccines 7- valent, 9-valent and 11-valent was: 53.3%, 77.4% and 82.6% respectively. For the 7-valent vaccine, was higher in the less than 2 years old group (61.2%), and for this age group with pneumonia (71.2%). More than 90% of penicillin resistant serotypes were included in the three conjugated vaccines. Conclusions: a national surveillance program was developped in Argentina and other Latin-American countries. Prevalent invasive Spn serotypes were identified; a significative increase in penicillin and other antibiotic resistance was found, like in almost all countries. This epidemiologic information is of great importance for evaluating the new conjugated vaccines.

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12.

Infecciones invasivas por Streptococcus pneumoniae: Estudio epidemiológico e importancia del desarrollo de un sistema de vigilancia
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Metrics
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Ruvinsky, Raúl

; Gentile, Ángela

; Regueira, Mabel

; Corso, Alejandra

; Ruvinsky, Raúl

; Gentile, Angela

; Regueira, Mabel

; Corso, Alejandra

; Pace, Julio

; Bakir, Julia

; Di Fabio, José Luis

; Rossi, Alicia

; Altschuler, Marta

; González Ayala, Silvia

; Hernández, Claudia

; Rubeglio, Etelvina

; Bologna, Rosa

; Grenón, Sara

; Von Specht, Marta

; Mayoral, Claudia

; Beltramino, Juan Carlos

; Carabajal, Laura

; Silverberg, Raquel

; Rial, María José

; Alarcón, Nora

; Ferrero, Fernando

; Yudowski, Susana

; Tregnaghi, Miguel

; Balbi de Aguirre, Laura

; Q. Aprá, Ernestina

; Vázquez, Mabel

; Galanternic, Laura

; Procopio, Adriana

; Logarzo, Daniel

; Meccia, Aída L

; Kremer, Clara

; Pérez, Carlota

; Cuza, Nélida

; Villagra de Trejo, Ana

; Lura de Calafell, María Cristina

; Pierini de Gaite, Judith

; Fabre, Rosa

; Dalamón, Ricardo

; Bruno, Miriam

; Díaz, Nora

; Noriega, Marta

; Gómez, Diana

Revista chilena de pediatría

Journal Metrics
- Sobre o periódico
- SciELO Analytics

jan 2004, Volume 75 N. 1 Pages 77 - 79

Abstract: En Es | Text: En Es | PDF: En | PDF: Es

Since 1993, the PAHO, through the Regional Vaccine System (SIREVA Group) organized a surveillance protocol of invasive Streptococcus pneumoniae (Spn) infections in children less than 5 years old in six Latin-American countries: Argentina, Brazil, Chile, Colombia, Mexico and Uruguay. In Argentina more than 20 hospitals are now participating in this project. Objectives: 1) To determine the predominant serotypes, the antibiotic resistance and changes along the time. 2) To know the representativity of the serotypes isolated in the new conjugated vaccines. Methodology: Children less than 6 years old hospitalized by Spn invasive infections were included (pneumonia, meningitis, bacteremia o sepsis). The ANLISS "Dr. Carlos G. Malbrán" Institute was the reference center for Spn serotyping and antibiotic resistance determination. Results: Spn was isolated from 1 390 clinical samples. The average age was 19.5 months, 74.4% belonged to children equal or less than 2 years of age. The main clinical diagnosis were: pneumonia 60.5%, meningitits 26.6%, fever without foccus (bacteremia) or sepsis 8.2%. Decreased penicillin sensitivity (DPS) was found in 32.1% of the cases, with high resistance in 16.1% and intermediate resistance in 16%; the increase of DPS in the 1993-98 period was significant, like in other countries. The more frequent serotypes were: 14 (32.5%), 6A/6B, 9V, 23F, 19F, 18C, 4, 5, and 1. Serotypes 14 and 6AB were prevalent in children less than 2 years old and serotypes 5 and 1, in children than 2 years older (p < 0.001). Serotype 14, pneumonia and age less than 2 years were risk factors for penicillin resistance. Finally, the representativity of the serotypes in the new conjugated vaccines 7-valent, 9-valent and 11-valent was: 53.3%, 77.4% and 82.6% respectively. For the 7-valent vaccine, was higher in the less than 2 years old group (61.2%), and for this age group with pneumonia (71.2%). More than 90% of penicillin resistant serotypes were included in the three conjugated vaccines. Conclusions: A national surveillance program was developped in Argentina and other Latin-American countries. Prevalent invasive Spn serotypes were identified; a significative increase in penicillin and other antibiotic resistance was found, like in almost all countries. This epidemiologic information is of great importance for evaluating the new conjugated vaccines

Las infecciones invasivas por Streptococcus pneumoniae (Spn) producen mortalidad elevada en países en desarrollo, con tasas entre 4 y 100 veces mayores que las de Estados Unidos o Canadá. Es el primer agente causal de neumonía en la infancia y de meningitis fuera de los brotes epidémicos por Neisseria meningitidis. La OPS, a través del grupo SIREVA, dedicado al desarrollo de vacunas en Latinoamérica, organizó un programa de vigilancia de infecciones invasivas por Spn en seis países: Argentina, Brasil, Chile, Colombia, México y Uruguay, iniciado en 1993 y que continúa actualmente. En Argentina participan en la actualidad más de 20 centros hospitalarios distribuidos en todas las áreas geográficas del país, actuando como Centro Nacional de referencia para la serotipificación y determinación de la resistencia a los antibióticos el Instituto ANLIS "Dr. Carlos G. Malbrán". Objetivos: 1) Determinar los serotipos predominantes, su resistencia a los antibióticos y los cambios temporales en infecciones invasivas por Spn de niños menores de 5 años de edad; 2) Obtener información confiable para la formulación de una vacuna conjugada adecuada para la región. Metodología: Diseño prospectivo observacional. Se incluyeron todos los niños menores de 6 años de edad internados por infecciones invasivas (neumonía, meningitis, sepsis o bacteriemia), en los que se aisló Spn de un sitio previamente estéril. Se realizó control externo de confiabilidad de los resultados, inicialmente en el laboratorio de referencia de Canadá y actualmente en el Instituto Adolfo Lutz de San Pablo. El análisis estadístico se realizó con EPIINFO 6 y con el programa WHONET de OMS. Resultados: Se destacan los siguientes hallazgos: Se aisló Spn en 1 390 muestras clínicas. La edad media (N = 1 175) fue de 19,5 meses, con 74,4% - 2 años; fueron neumonías 60,5%; meningitis 26,6%, sepsis 8,2%. Se halló sensibilidad disminuida a penicilina en 32,1% (414/1 288), con resistencia alta 16,1% e intermedia 16%. La resistencia a los antibióticos betalactámicos se incrementó en el período 1993-8. Los serotipos prevalentes fueron: 14 (32,5%), 6A/6B, 9V, 23F, 19F, 18C, 4, 5, 1. Los serotipos 14 y 6AB prevalecieron en menores de 2 años mientras que el 5 y el 1 prevalecieron en mayores de 2 años (p < 0,001). El serotipo 14, la neumonía y la edad menor de 2 años fueron los factores de riesgo para resistencia a penicilina. La representatividad para las vacunas conjugadas 7-valente, 9-valente y 11-valente fue de 53,3%, 77,4% y 82,6% respectivamente, mayor para la 7-valente en los menores de 2 años (61,2%) y en los menores de 2 años con neumonía (71,2%). Más del 90% de los serotipos aislados con algún grado de resistencia estuvieron contenidos en las tres vacunas analizadas. Conclusiones: Un programa nacional de vigilancia de Spn invasivo fue desarrollado en Argentina y otros países latinoamericanos. Se identificaron por primera vez los serotipos predominantes en infecciones invasivas y se comprobó el incremento significativo de la resistencia a penicilina y otros antibióticos, similar a lo informado en casi todos los países del mundo. Se obtuvo información epidemiológica válida para evaluar estrategias de prevención con nuevas vacunas

5572 downloads Cited 6 times in SciELO

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