Características clínicas y demográficas de los niños hospitalizados con infección por SARS-CoV-2

Introducción: en marzo de 2020 se registraron los primeros casos de infección por SARS-CoV-2 en Uruguay y se decretó la emergencia sanitaria. Objetivo: describir las características clínicas demográficas de los menores de 15 años hospitalizados con infección por SARS-CoV-2 en el período 13 de marzo de 2020 al 30 de septiembre de 2021 en el Hospital Pediátrico del Centro Hospitalario Pereira Rossell, centro de referencia público de Uruguay. Metodología: estudio descriptivo, retrospectivo, en el que se describen edad, manifestaciones clínicas, comorbilidades, severidad, tratamiento y evolución. Resultados: se hospitalizaron 207 niños con una frecuencia de 1,6%. La mediana (rango intercuartil) de edad fue 1,5 años (3 meses - 8 años); <1 año 44%; 54% de sexo masculino. Presentaron comorbilidades, 59 niños. Fueron sintomáticos, 71%. De los sintomáticos, presentaron síntomas leves 48%. Las manifestaciones clínicas fueron respiratorias en 96 (65%) y no respiratorias en 51 (fiebre sin foco 15, digestivas 19, exantema viral 3, SIM-Ped S 10 y atípicas 3). Treinta niños ingresaron a unidad de cuidados intensivos (UCI) y tres requirieron ventilación invasiva. Estos pacientes presentaron comorbilidades, tuvieron más días de fiebre y necesitaron oxigenoterapia que los que no requirieron UCI. Un paciente de 2 años con comorbilidades falleció. Conclusión: la frecuencia de hospitalizaciones fue de 1,6%. La mayoría de los niños sintomáticos presentaron formas leves. En los sintomáticos las manifestaciones fueron respiratorias. Los hallazgos en esta serie aportan al conocimiento del comportamiento de la infección por SARS-CoV-2 en niños.

Introduction: in March 2020, the first cases of SARS CoV-2 infection were registered in Uruguay and a health emergency was decreed. Objective: To describe the clinical and demographic characteristics of children under 15 years of age hospitalized with SARS-CoV-2 infection from March 13, 2020, to September 30, 2021, at Pereira Rossell Pediatric Hospital, a public reference center in Uruguay. Method: descriptive, retrospective study describing age, clinical manifestations, comorbidities, severity and treatment. Results: a total of 207 children were hospitalized, with a frequency of 1.6%. The median (interquartile range) age was 1.5 years (3 months - 8 years); <1 year accounted for 44%, and 54% were male. Comorbidities were present in 59 children. 71% of them were symptomatic, and among the symptomatic cases, 48% presented mild symptoms. Clinical manifestations were respiratory in 96 (65%) cases and non-respiratory in 51 (fever without a focus 15, gastrointestinal 19, viral exanthem 3, pediatric inflammatory multisystem syndrome 10, and atypical 3). Thirty patients were admitted to the Intensive Care Unit (ICU), and 3 required invasive ventilation. These patients had comorbidities, more days of fever, and required oxygen therapy compared to those who did not need ICU. One 2-year-old patient with comorbidities died. Conclusion: the hospitalization frequency was 1.6%. Most symptomatic children had mild forms of the disease. Among the symptomatic cases, respiratory manifestations were predominant. The findings from this series contribute to the understanding of the behavior of SARS-CoV-2 infection in children.

Introdução: Os primeiros casos de infecção por SARS CoV-2 no Uruguai foram registrados em março de 2020 quando foi decretada a emergência sanitária. Objetivo: descrever as características clínicas e demográficas das crianças menores de 15 anos internadas com infecção por SARS CoV-2 no período 13 de março de 2020 - 30 de setembro de 2021 no Hospital Pediátrico do Centro Hospitalar Pereira Rossell, centro público de referência no Uruguai. Metodologia: estudo descritivo, retrospectivo, incluindo idade, manifestações clínicas, comorbidades, gravidade, tratamento e evolução. Resultados: 207 crianças foram internadas com infecção por SARS CoV-2 correspondendo a frequência de 1,6% do total de crianças hospitalizadas no período estudado. A mediana (intervalo interquartil) de idade foi de 1,5 anos (3 meses - 8 anos) dos quais 44% eram <1 ano 44% e 54% do sexo masculino. 59 crianças apresentaram comorbidades. 71% eram sintomáticas sendo que 48% delas apresentaram sintomas leves. As manifestações clínicas foram respiratórias em 96 (65%) e não respiratórias em 51 (febre sem foco 15, digestiva 19, exantema viral 3, SIM-Ped S 10 e atípico 3). 30 crianças foram internadas na Unidade de Terapia Intensiva e 3 precisaram de ventilação invasiva; esses pacientes apresentavam comorbidades, necessitaram de oxigenoterapia e tiveram mais dias de febre do que aqueles que não necessitaram de UTI. Uma paciente de 2 anos com comorbidades faleceu. Conclusão: a frequência de internações foi de 1,6%. A maioria das crianças sintomáticas apresentou formas leves. Nas sintomáticas as manifestações foram respiratórias. Os achados desta série contribuem para o conhecimento do comportamento da infecção por SARS CoV-2 em crianças.

Características epidemiológicas y clínicas de los niños con COVID-19 asistidos en un prestador de salud privado de Uruguay / Epidemiological and clinical characteristics of children with COVID-19 cared for in a private health provider in Uruguay

INTRODUCCIÓN: Tras la detección de los primeros casos de SARS-CoV-2 y declararse la emergencia sanitaria en el país, la transmisión comunitaria del virus se mantuvo baja a moderada hasta noviembre de 2020 pasando luego a ser media y alta. Los niños bajo 15 años de edad constituyen el grupo menos afectado. El diagnóstico se confirma mediante RT-qPCR. La utilidad del CT (cycle threshold) es discutida. Objetivo: Describir las características epidemiológicas y clínicas de los niños infectados con SARS-CoV-2 y la relación entre el valor del CT y la presentación clínica. METODOLOGÍA: Se realizó un estudio descriptivo, retrospectivo, en pacientes bajo 16 años de edad con infección por SARS-CoV-2, asistidos en un prestador de salud de Montevideo entre la semana epidemiológica (S.E.) 3 del 2020 y la SE 9 del 2021. Se describieron variables clínicas, noción epidemiológica, gravedad y evolución. Se consignó el valor del CT al diagnóstico y se comparó con la presencia de síntomas. RESULTADOS: Los pacientes bajo 16 años representaron el 16,6% del total de infectados (794 en 4.792). El 70% de los casos ocurrió entre los meses de enero y febrero de 2021. El 67,6% presentó contacto intradomiciliario. La media de edad fue 7,5 ± 4,1 años, 51% de sexo masculino. Presentaron síntomas 55% y fueron asintomáticos 45%; no se observaron diferencias significativas en la media, moda y rango de edades de ambos grupos. Ninguno presentó comorbilidades. En el grupo de los 440 pacientes sintomáticos, 55% presentaron fiebre: 32% asociada con otros síntomas, principalmente respiratorios altos y 23% como único síntoma. El valor de CT se obtuvo en 536 de los 794 pacientes (67,5%). La media de CT fue 29,7 ± 5,8 en el grupo de sintomáticos vs. 31,5 ± 5,7 en asintomáticos (p > 0,05). Se hospitalizaron tres pacientes, ninguno requirió cuidados intensivos ni falleció. CONCLUSIONES: La prevalencia e incidencia de la infección por SARS-CoV-2 en niños acompañan a la de adultos y la mayoría cursó formas leves o asintomáticas, sin complicaciones. En esta serie, el valor de CT no fue diferente en niños sintomáticos y asintomáticos. El contacto estrecho intradomiciliario fue la principal fuente de infección.

BACKGROUND: After the detection of the first cases of SARS-CoV-2 and the declaration of a health emergency in the country, community transmission of the virus remained low to moderate until November 2020, later becoming medium and high. Children under 15 years of age constitute the least affected group. The diagnosis is confirmed by RT-qPCR. The usefulness of the CT (cycle threshold) is discussed. AIM: To describe the epidemiological and clinical characteristics of children infected with SARS-CoV-2 and the relationship between the CT value and clinical presentation. METHOD: A descriptive, retrospective study was carried out in patients under 16 years of age with SARS-CoV-2 infection, assisted by a health provider in Montevideo between epidemiological week (EW) 3 of2020 and EW 9 of2021. Clinical variables, epidemiological notion, severity and evolution were described. The CT value at diagnosis was recorded and compared with the presence of symptoms. RESULTS: Patients under 16 years of age represented 16.6% of the total infected (794 in 4,792). 70% of the cases occurred between the months of January and February 2021. 67.6% presented intradomiciliary contact. The mean age was 7.5 ± 4.1 years, 51% were male. 55% presented symptoms and 45% were asymptomatic; no significant differences were observed in the mean, mode and age range of both groups. None presented comorbidities. In the group of 440 symptomatic patients, 55% presented fever: 32% associated with other symptoms, mainly upper respiratory symptoms, and 23% as the only symptom. The CT value was obtained in 536 of the 794 patients (67.5%). The mean CT was 29.7+5.8 in the symptomatic group vs. 31.5 ± 5.7 in asymptomatic patients (p > 0.05). Three patients were hospitalized, none required intensive care and none died. CONCLUSIONS: The prevalence and incidence of SARS-CoV-2 infection in children accompany that of adults and the majority had mild or asymptomatic forms, without complications. In this series, the CT value was not different in symptomatic and asymptomatic children. Close household contact was the main source of infection.

Malaria importada en niños: primer caso en Uruguay / Imported malaria in children: first case in Uruguay / Malária importada em crianças, o primeiro caso no Uruguai

Resumen: La malaria es un problema de salud a nivel mundial. Si bien en Uruguay existen ejemplares del género Anopheles, las especies descritas con mayor frecuencia no transmiten la enfermedad. Se comunica el primer caso de una niña con malaria importada, no complicada, por Plasmodium falciparum. El objetivo es sensibilizar al pediatra sobre una enfermedad reemergente y analizar su abordaje diagnóstico y terapéutico. Caso clínico: niña de 8 años, sana, procedente de Bolívar (Venezuela). Vive en Uruguay desde hace 15 días. Comienza cinco días previos al ingreso con fiebre de 41 °C, rinorrea y tos seca, vómitos ocasionales en las últimas 24 horas. Anorexia y marcado decaimiento. No lesiones de piel, cefalea, ni artromialgias. Examen físico: decaída, chucho febril, dolor abdominal difuso y hepatoesplenomegalia. Estudios complementarios: anemia, plaquetopenia, elevación de reactantes de fase aguda y de gamma glutamil transferasa. Ecografía abdominal: hepatoesplenomegalia moderada. Estudio parasitológico de sangre periférica: trofozoitos de Plasmodium falciparum, parasitemia menor a 10%. Se administra artemeter-lumefantrina durante tres días, seguido de primaquina por 14 días, con buena evolución. Conclusiones: la malaria debe ser considerada en un niño que proviene de zonas endémicas y se presenta con una enfermedad febril aguda, acompañada de chuchos, decaimiento y hepatoesplenomegalia. El estudio del frotis sanguíneo y gota gruesa realizado por el parasitólogo permitirá confirmar el diagnóstico y definir el abordaje terapéutico. Para disminuir la mortalidad es importante el diagnóstico oportuno y la identificación precoz de signos de malaria grave. El tratamiento será dirigido según la especie involucrada y riesgo de resistencia a los antimaláricos.

Summary: Malaria is a global health problem. Although there are specimens of the genus Anopheles, in Uruguay, the most frequently described species do not transmit the disease. We hereby report the first case of a girl with imported, uncomplicated Plasmodium falciparum malaria. The objective is to raise pediatricians' awareness regarding a re-emerging disease and analyze its diagnostic and therapeutic approach. Clinical case: 8-year-old, healthy girl from Bolívar (Venezuela) who had lived in Uruguay for 15 days. 5 days prior to admission started having 41°C fever, runny nose and dry cough and occasional vomit in the 24 hours prior to admittance. Anorexia and significant asthenia. No skin lesions, headaches or arthromyalgia. Physical exam: asthenia, feverish shivering, diffuse abdominal pain, and hepatosplenomegaly. Complementary studies: anemia, thrombocytopenia, high acute phase reactants and gamma glutamyl transferase. Abdominal ultrasound: moderate hepatosplenomegaly. Parasitological study of peripheral blood: Plasmodium falciparum trophozoites, parasitemia less than 10%. Artemether-lumefantrine was administered for 3 days, followed by primaquine for 14 days, with positive evolution. Conclusions: Malaria should be considered in cases of children from endemic areas who show acute febrile illness, accompanied by shivering, asthenia and hepatosplenomegaly. The study of the thick and peripheral blood smears carried out by the parasitologist will eventually confirm the diagnosis and define the therapeutic approach. In order to reduce mortality, it is essential to carry out a timely diagnosis and to identify symptoms of severe malaria early on. Treatment will depend on the species involved and risk of resistance to antimalarials.

Resumo: A malária é um problema de saúde global. Embora no Uruguai existam exemplares do gênero Anopheles, as espécies mais frequentemente descritas não transmitem a doença. Relatamos o primeiro caso de uma menina com malária importada não complicada por Plasmodium falciparum. O objetivo é sensibilizar o pediatra sobre uma doença reemergente e analisar sua abordagem diagnóstica e terapêutica. Caso clínico: menina saudável de 8 anos, procedente de Bolívar (Venezuela) que tinha morado no Uruguai por 15 dias. 5 dias antes da internação começa a ter febre de 41°C, rinorreia, tosse seca e vômitos ocasionais nas 24 horas anteriores à internação. Anorexia e astenia acentuada. Sem lesões cutâneas, dores de cabeça ou artromialgia. Exame físico: astenia, tremor febril, dor abdominal difusa e hepatoesplenomegalia. Estudos complementares: anemia, plaquetopenia, elevação dos reagentes de fase aguda e gama glutamil transferase. Ultrassonografia abdominal: hepatoesplenomegalia moderada. Estudo parasitológico do sangue periférico: trofozoítos por Plasmodium falciparum, parasitemia inferior a 10%. Administramos artemeter-lumefantrina por 3 dias, seguida de primaquina por 14 dias, com boa evolução. Conclusões: devemos considerar a malária em crianças procedentes de áreas endêmicas e com quadro febril agudo, acompanhado de tremores, astenia e hepatoesplenomegalia. O exame do esfregaço e de gota espessa quando feito pelo parasitologista vai confirmar o diagnóstico e definir a abordagem terapêutica. É importante realizar diagnóstico precoce e identificar os sinais de malária para diminuir o risco de mortalidade. O tratamento será administrado de acordo com a espécie envolvida e com o risco de resistência aos antimaláricos.

Tuberculosis extra-pulmonar en niños bajo 15 años de edad internados en el Centro Hospitalario Pereira Rossell, Uruguay / Extrapulmonary tuberculosis in children under the age of 15 hospitalized at the Pereira Rossell Hospital Center, Uruguay

Resumen Introducción: La tuberculosis es un problema de salud pública de alta prevalencia. Los niños constituyen una población de riesgo de enfermar y evolucionar a formas graves. Objetivo: Describir la frecuencia, características epidemiológicas, clínicas y evolutivas de los pacientes bajo 15 años de edad, internados por tuberculosis extra-pulmonar (TBCEP) en el Centro Hospitalario Pereira Rossell-Uruguay, durante 2009 a 2019. Pacientes y Métodos: Estudio descriptivo, retrospectivo, revisión de historias clínicas y registros de la Comisión Honoraria para la Lucha Antituberculosa. Variables: edad, sexo, nexo epidemiológico, clínica, confirmación diagnóstica, tratamiento y complicaciones. Resultados: Se registraron 77 casos de TBCEP, fueron hospitalizados en este centro 45 (58%). Media de edad 7 años, varones 25 (56%). Todos recibieron vacuna BCG. Se identificó nexo epidemiológico en 28 (62%). Las formas de TBCEP fueron: pleural 26 (58%), sistema nervioso central (SNC) 9 (20%), linfoganglionar 4 (9%), cutánea 2 (5%), ósea 1 (2%), peritoneal 1 (2%), pleural-peritoneal 1 (2%), ósea-SNC 1 (2%). Confirmación etiológica hubo en 23 (51%): mediante cultivo 16, GeneXpert 5, por ambos 2. Completaron tratamiento 36 (80%). Presentaron complicaciones 4 (9%): status convulsivo 2, hemorragia cerebral 1, fallo orgánico múltiple 1. Conclusiones: La TBCEP ocurrió en niños previamente sanos. El diagnóstico requiere alto índice de sospecha y la confirmación el empleo simultáneo de varias técnicas diagnósticas.

Abstract Background: Tuberculosis is a public health problem. Children constitute a population at risk of becoming ill and evolving into serious forms. Aim: To describe the frequency, epidemiological, clinical and evolutionary characteristics of children under 15 years of age hospitalized for extrapulmonary tuberculosis (EPTB) at the Pereira Rossell Hospital-Uruguay, during 2009-2019. Methods: Descriptive, retrospective study, review of medical records and records of the Honorary Commission for the Fight Against Tuberculosis. Variables: age, sex, epidemiological and clinical link, diagnostic confirmation, treatment and complications. Results: 77 cases of EPTB were registered, 45 (58%) were hospitalized in this center. Average age 7 years, males 25 (56%). All received the Bacillus Calmette-Guérin vaccine. An epidemiological link was identified in 28 (62%). The forms of EPTB were: pleural 26 (58%), central nervous system (CNS) 9 (20%), lymphoganglionic 4 (9%), cutaneous 2 (5%), bone 1 (2%), peritoneal 1 (2%), pleural- peritoneal 1 (2%), bone-CNS 1 (2%). Etiology was confirmed in 23 (51%): by culture 16, GeneXpert 5, by both 2. Thirty-six (80%) patients completed treatment. Four (9%) presented complications: convulsive state 2, cerebral hemorrhage 1, multiple organ failure 1. Conclusions: EPTB occurred in previously healthy children. The diagnosis requires a high index of suspicion and the confirmation of the simultaneous use of several diagnostic techniques.

Parotiditis tuberculosa: una presentación poco frecuente de una enfermedad reemergente / Tuberculous parotitis: an uncommon presentation of a reemerging disease / Parotidite tuberculosa: uma apresentação rara de uma doença reemergente

Resumen: Introducción: en Uruguay en los últimos años se ha observado un aumento de la incidencia de la enfermedad en niños. El diagnóstico de TB infantil representa un desafío, la infección suele cursar con manifestaciones clínicas inespecíficas y muchas veces en forma asintomática. Objetivo: describir el caso clínico de un niño con parotiditis tuberculosa. Caso clínico: 5 años, varón, sano, hacinamiento, dos adultos convivientes con TB pulmonar en tratamiento. Vacunas vigentes. Consulta por tumoración de cuello derecha de tres días de evolución, adelgazamiento, subfebril. Diagnóstico al ingreso, adenoflemón de probable etiología bacteriana. Tratamiento con antibióticos, mala evolución, persiste febril y no se modifica tamaño de tumoración. Ecografía de partes blandas: glándula parotídea derecha aumentada de tamaño. Prueba tuberculínica: 14 mm. Velocidad de eritrosedimentación: 75 mm/h. Con planteo de TB parotídea se realiza punción de la glándula, obteniéndose material purulento. Se confirma bacteriológicamente la infección por métodos moleculares y cultivo. Se inicia tratamiento para TB. Recibe nueve meses de tratamiento con resolución completa y sin complicaciones. Conclusiones: las formas de presentación extrapulmonares son más frecuentes en niños que en adultos, su diagnóstico no es sencillo. Es fundamental recordar que el diagnóstico de un caso de TB en un niño representa un evento sanitario centinela de la transmisión reciente a partir de adulto bacilífero que habitualmente convive y debe ser diagnosticado y tratado adecuadamente.

Summary: Introduction: according to the World Health Organization (WHO), Childhood tuberculosis (TB) occurs in children under 15 years of age. An increase in the incidence of this disease was detected in children in recent years. The diagnosis of childhood TB is a challenge because of its non-specific clinical manifestations. Objective: describe a case of a child with tuberculous parotitis. Case report: 5-year-old healthy male living with 2 adults with pulmonary TB under treatment. Vaccination according to his age. Consultation regarding a neck tumor of 3 days of evolution, patient showed weight loss and no history of fever. Diagnosis at admission was cervical adenitis probably with bacterial etiology. Antibiotic treatment, poor evolution, fever persisted and tumor size remained unchanged. Soft tissue ultrasound: enlarged right parotid gland. Tuberculin test: 14mm. Erythrosedimentation rate 75mm / h. With a parotid tuberculosis approach, we performed a gland puncture and obtained purulent material. The infection was bacteriologically confirmed by molecular methods and culture. Treatment for tuberculosis began. Patient received treatment for 9 months and showed complete resolution and no complications. Conclusions: although tuberculosis is a reemerging disease and extra-pulmonary presentation forms are more frequent in children than in adults, diagnosis remains a challenge. It is essential to remember that the TB diagnosis in children usually shows a sentinel health event of recent transmission from a bacilliferous adult who usually lives with the child and must be properly diagnosed and treated.

Resumo: Introdução: segundo a Organização Mundial da Saúde (OMS), a tuberculose infantil (TB) ocorre em crianças menores de 15 anos de idade. Nos últimos anos houve um aumento na incidência desta doença em crianças. O diagnóstico da TB infantil é um desafio devido às suas manifestações clínicas inespecíficas. Objetivo: descrever o caso duma criança com parotidite tuberculosa. Relato de caso: menino de 5 anos, saudável, morava com 2 adultos com TB pulmonar em tratamento. Vacinas de acordo com sua idade. Consulta referente a tumor cervical com 3 dias de evolução, paciente apresentava emagrecimento, sem febre. O diagnóstico na admissão foi adenite cervical de etiologia provavelmente bacteriana. Tratamento antibiótico, má evolução, persistência de febre e tamanho do tumor inalterado. Ultrassom de partes moles: glândula parótida direita aumentada. Teste tuberculínico: 14mm. Taxa de eritrosedimentação 75 mm / h. Com abordagem de tuberculose parotídea, realizou-se punção da glândula e obteve-se material purulento. A infecção foi confirmada bacteriologicamente por métodos moleculares e cultura. Começou-se tratamento para a tuberculose, o paciente recebeu tratamento por 9 meses e apresentou resolução completa e sem complicações. Conclusões: embora a tuberculose seja uma doença reemergente e as formas de apresentação extrapulmonar sejam mais frequentes em crianças do que em adultos, o diagnóstico permanece um desafio. É fundamental lembrar que o diagnóstico de um caso de TB na criança representa um evento sentinela de saúde de transmissão recente de um adulto bacilífero que mora com a criança e que deve ser devidamente diagnosticado e tratado.

Niños con mordeduras de animales hospitalizados en un centro de referencia de Uruguay / Children with animal bites hospitalized in a reference center of Uruguay

Resumen: Introducción: Las mordeduras de animales constituyen un problema sanitario. Pueden producir lesiones de diversa gravedad con riesgo de secuelas estéticas, funcionales y complicaciones infecciosas. El objetivo de este estudio fue describir las características clínicas y epidemiológicas, los tratamientos y las complicaciones de las lesiones por mordeduras de animales en niños hospitalizados en un centro de referencia de Uruguay. Métodos: Estudio descriptivo y retrospectivo. Se incluyeron todos los niños hospitalizados por mordeduras de animales entre 2014 y 2017. Se revisaron las historias clínicas y se registraron el animal involucrado, el tipo de lesiones, los tratamientos, las complicaciones y si el caso se notificó al Ministerio de Salud. Resultados: Se hospitalizaron 106 niños (media de edad: 4.5 años). El animal involucrado más común fue el perro (80.2%), seguido de roedores (8.5%), arácnidos (4.7%) y otros (6.5%). Las lesiones fueron en su mayoría únicas (61.3%) y superficiales (80.2%), y la hospitalización se hizo en cuidados moderados en el 91.5% de los casos. Los tratamientos se centraron en higiene (96.2%), sutura (70.8%) y profilaxis antibiótica (81.1%). Se presentaron complicaciones en el 77.4% de los casos. En tres fue posible el aislamiento del agente etiológico más frecuente: Streptococcus pyogenes. El 20.7% de los casos se notificaron al Ministerio de Salud. No se registró letalidad. Conclusiones: Del total de los niños hospitalizados, los más afectados fueron varones menores de 5 años. Predominaron las lesiones en la cabeza y los miembros, mayoritariamente leves y superficiales. En el 77.4% de los casos hubo complicaciones, principalmente infecciosas y estético-funcionales.

Abstract: Background: Animal bites are a health problem that can produce lesions of varying severity, with the risk of aesthetic and functional sequelae and infectious complications. The objective of the study was to describe the clinical, epidemiological, treatment and complications of lesions caused by animal bites in children hospitalized in a reference center in Uruguay. Method: Descriptive, retrospective study. All children hospitalized for animal bites between 2014 and 2017 were included. Medical records were reviewed and data, such as the animal involved, injuries, treatments, complications, and if the case was notified to the Ministry of Health, were recorded. Results: A total of 106 children were hospitalized, with a mean age 4.5 years. The animals involved were dogs (80.2%), rodents (8.5%), arachnids (4.7%), and others (6.5%). The majority of the lesions were superficial (80.2%), and 91.5% of the cases were hospitalized in moderate care. The treatments were hygiene (96.2%), suture (70.8%), and antibiotic prophylaxis (81.1%). There were complications in 77.4% of the cases. In three cases, the isolation of the most frequent etiological agent was possible: Streptococcus pyogenes. Notification to the Ministry of Health occurred in 20.7% of the cases. No lethality was recorded. Conclusions: A total of 106 children were hospitalized due to animal bites. The most affected were males under 5 years old. Most of them were bitten at home or nearby. Dogs and rodents were the most involved animals. There were predominantly head and limb lesions, mostly mild and superficial. Complications occurred in 77.4% of cases, mainly infectious and aesthetic-functional.

Un quinquenio de experiencia (2005-2010) con infecciones por Salmonella spp en un centro nacional de referencia en pediatría / A five-year experience with zoonotic Salmonella at a pediatric reference centre

Resumen Introducción: Salmonella sp puede causar infecciones asintomáticas, gastroenteritis, bacteriemia e infecciones focales como meningitis y osteomielitis. Objetivo: Describir aspectos microbiológicos y clínicos de las infecciones por Salmonella spp en niños en un hospital de referencia pediátrico Centro Hospitalario Pereira Rossell. Montevideo Uruguay. Material y Métodos: Estudio descriptivo y retrospectivo de pacientes en quienes se aislara Salmonella spp en el período 1 de enero de 2005 al 31 de diciembre de 2010. Resultados: Se aisló Salmonella spp en 46 niños menores de 15 años. Dieciocho eran menores de 2 años y 5 niños menores de tres meses. 24% de los pacientes presentaba factores de riesgo (infección por VIH; enfermedad hemato-oncológica, desnutrición) y co-morbilidades (bajo peso al nacer y neumonía). No hubo fallecidos. Los serotipos más frecuentes fueron: Typhimurium y Enteritidis. La mayoría de las cepas eran sensibles a ampicilina y cefalosporinas de tercera generación. Discusión: La presentación clínica predominante fue diarrea con sangre, no se presentaron brotes. Basados en los perfiles de susceptibilidad antimicrobiana, se pueden mantener las recomendaciones hasta el momento sugeridas. Conclusiones: Se debe tener en cuenta la infección por Salmonella sp en niños febriles con riesgo de enfermedad bacteriana invasora, con o sin focalidad.

Background: Salmonella can cause asymptomatic infections, diarrhea, bacteremia and focal infections such as meningitis and osteomyelitis. Aim: To describe clinical and microbiological aspects of infections by Salmonella spp. in children in a pediatric referral hospital: Centro Hospitalario Pereira Rossell, in Montevideo, Uruguay. Materials and Methods: Descriptive and retrospective study of 46 patients, from which Salmonella spp was isolated between January 1, 2005 and December 31, 2010. Results: Salmonella spp was isolated in 46 children younger than 15 years old. 18 were below 2 years old and 5 children below three months. 24% of the children had risk factors, such as HIV infection, oncological diseases and malnutrition; low birth weight and pneumonia were associated conditions. No deaths were reported. The serotypes more frequently found were: Typhimurium and Enteritidis. Most of the strains were susceptible to ampicillin and third generation of cephalosporins. Discussion: Diarrhea with blood was the predominant clinical presentation, and there were no outbreaks. Typhimurium and Enteritidis were the most common serotypes. Based on the profiles of susceptibility antimicrobial, we could maintain the same recommendations until the moment suggested. Conclusions: we must consider the Salmonella infection in febrile children under risk of an invasive bacterial disease, with or without focal infection.

Bartonelosis sistémica con lesiones hepatoesplénicas en un paciente inmunocompetente: Presentación de un caso y revisión de la bibliografía / Systemic bartonellosis with hepatic and splenic lesions in immunocompetent patient: Presentation of a case and bibliography review

Resumen La enfermedad por arañazo de gato (EAG) es una enfermedad infecciosa causada por Bartonella henselae. Esta enfermedad es de evolución habitualmente benigna, el beneficio del tratamiento antibiótico no está claramente demostrado, sin embargo algunos pacientes desarrollan formas atípicas y más graves con compromiso sistémico como la formación de granulomas hepáticos y esplénicos. Se presenta el caso clínico de una niña de 10 años con granulomas hepáticos que fue asistida en el Centro Hospitalario Pereira Rossell por fiebre prolongada, astenia, dolor abdominal y adelgazamiento. Lo que obliga a investigar la etiología y descartar diagnósticos diferenciales y proponer alternativas terapéuticas. En ese momento no disponíamos de estudios serológicos para la búsqueda etiológica en el país lo cual generó dificultades diagnósticas en esta paciente. Finalmente se pudo obtener la confirmación serológica de EAG de la paciente al enviar la muestra al Hospital de Niños Ricardo Gutiérrez en Buenos Aires prácticamente un mes después de iniciado los síntomas. Fue tratada inicialmente con azitromicina vía oral 10 mg/kg/día por 10 días y dada la tórpida evolución se utiliza un segundo plan antibiótico que incluyó claritromicina 15 mg/kg/día más rifampicina 20 mg/kg/día por 6 semanas. La paciente evolucionó favorablemente, presentando disminución progresiva del tamaño de los granulomas hepáticos y esplénicos. Discusión: Los granulomas hepatoesplénicos constituyen una forma de presentación poco frecuente pero orientadora de la EAG. La evidencia en relación a su tratamiento es escasa y deriva de series de casos. Es posible que los pacientes con manifestaciones sistémicas requieran tratamientos combinados y prolongados.

Cat Scratch Disease (CSD) is an infectious disease caused by Bartonella henselae. This disease is usually benign and the benefit of antibiotics has not been clearly proved yet. However, a few patients develop atypical forms that are more severe, with systemic involvement, such as the formation of hepatic and splenic granulomas. The study presents the case of a ten year old girl with hepatic granuloma who was seen at the Pereira Rossell Hospital Center. She consulted for prolonged fever, asthenia, abdominal pain and weight loss. Etiology was investigated and differential diagnosis was performed to suggest possible therapies. There were no serologic tests in the country at that time to be used for the etiological search, what resulted in diagnostic difficulties for this patient. At last, we obtained serologic confirmation of CSD in the patient by sending the sample to the Ricardo Gutierrez Hospital of Buenos Aires, almost one month after the initiation of symptoms. The patients was initially treated with oral Azithromycin (10 mg/kg/day) for ten days and given the slow and unsuccessful evolution, a second antibiotic plan was used, including Clarithromycin (15 mg/kg/day) and rifampicin (15 mg/kg/day) for 6 weeks. Evolution was favorable, a progressive reduction of the size of hepatic and spleen granulomas was seen. Discussion: hepatic and spleen granulomas are an unusual form of presentation of CSD, though rather an orientating one. Evidence about treatment is scarce, and it results from case series- Patients with systemic involvement may require combined and long treatments.

Infección de transmisión vertical por Toxoplasma gondii: seguimiento de los hijos de mujeres con primoinfección en una institución de asistencia médica colectiva; 2010-2015 / Vertical transmission of Toxoplasma gondii infections: follow up of children born to mothers diagnosed with a primary infection in a healthcare center between 2010 and 2015

La toxoplasmosis congénita (TC) afecta 1 a 2 niños cada 1.000 nacimientos al año. La mayoría de los recién nacidos infectados son asintomáticos pero la ausencia de tratamiento puede determinar secuelas oftalmológicas y neurológicas. Objetivo: describir el seguimiento de los hijos de mujeres con primoinfección por Toxoplasma gondii durante el embarazo derivados a una Policlínica de Infectología de la Médica Uruguaya entre diciembre de 2010 y mayo de 2015. Material y método: se incluyeron los hijos de mujeres con primoinfección por T.gondii durante el embarazo entre el 1 de diciembre de 2010 y el 31 de mayo de 2015. Se confirmó primoinfección mediante determinación inmunoenzimática de IgG e IgM específicas, complementada por IgM por inmunofluorescencia indirecta o test de avidez de IgG según el caso. El diagnóstico de infección congénita se realizó por la presencia de IgM o títulos de IgG estables o en aumento en los primeros 9 meses de seguimiento del niño. Resultados: se diagnosticó primoinfección en 34 mujeres. La mayoría controló adecuadamente el embarazo y ninguna presentó infección por VIH, sífilis o Chagas. Se confirmó TC en 3 niños nacidos a término, con peso adecuado, hijos de mujeres con primoinfección adquirida en el tercer trimestre y tratadas con espiramicina. Uno presentó coriorretinitis, los otros fueron asintomáticos. En todos la IgM fue negativa, el diagnóstico se confirmó con curva de IgG. Todos recibieron piremetamina, sulfadiazina y ácido folínico sin efectos adversos. A la fecha continúan en tratamiento y seguimiento dos de los tres niños. Discusión y conclusión: la captación temprana de la mujer embarazada, la indicación oportuna de medidas de prevención constituyen pilares fundamentales para reducir la TC. El tratamiento oportuno y adecuado puede prevenir las secuelas.

Congenital toxoplasmosis (CT) affects one to two children out of 1000 births per year. Most infected newborns present no symptoms, although the absence of treatment may result in eye and neurologic sequelae. Objective: to describe follow-up of children born to mothers diagnosed with a primary Toxoplasma gondii infection during pregnancy referred to an Infectology Policlinic of Medica Uruguaya between December, 2010 and May, 2015. Method: the children of women with Toxoplasma gondii primary infection during pregnancy between December 1, 2010 and May 31, 2015 were included in the study. Primary infection was confirmed through specific IgG and IgM immunoenzymatic techniques, complemented by IgM by indirect immunofluorescence or IgG avidity test, depending on the case. Diagnosis of congenital infection was done according to the presence of IgM or IgG stable or increasing titers in the first 9 months of follow-up of the children. Results: thirty four women were diagnosed with primary infection. Most of them were properly controlled during pregnancy and none of them were HIV, syphilis or Chagas positive. Congenital toxoplasmosis was confirmed in 3 children delivered on the date they were due, with adequate weight, children to mothers with primary infection acquired in the third trimester and treated with spiramycin. One of them evidenced chorioretinitis and the others were asymptomatic. IgM was negative in all cases, diagnosis being confirmed with IgG curve. All of them received pyrimethamine sulfadiazine and folinic acid, there being no side effects. Today, two of the three children are still under treatment and under follow-up. Discussion and conclusion: follow-up of pregnant women since early stages of pregnancy and the timely indication of preventive measures constitute essential pillars to reduce congenital toxoplasmosis. Timely and adequate treatment may prevent sequelae.

Enfermedad de chagas: transmisión vertical. descripción de casos clínicos / Chagas disease: vertical transmission. a description of clinical cases

La enfermedad de Chagas es una zoonosis causada por Trypanosoma cruzi. En el año 1997 se declaró que la transmisión vectorial de T.cruzi se encuentra interrumpida en Uruguay. En este contexto cobran importancia mecanismos no vectoriales de transmisión. La infección congénita es el único mecanismo de transmisión presente en el país. Este riesgo (4%) justifica la obligatoriedad de la serología específica en los controles obstétricos para los 13 departamentos endémicos y la maternidad del Centro Hospitalario Pereira Rossell en Montevideo (Decreto del Poder Ejecutivo Nº 4085/95). El objetivo de este trabajo es describir cinco casos clínicos de hijos de madres con serología positiva para Chagas asistidos en Médica Uruguaya entre los años 2011 y 2014. Las madres de todos los niños residen en Montevideo, tres de ellas vivieron en su infancia en departamentos endémicos (Rivera, Artigas, Tacuarembó) y las abuelas maternas de los cincos casos residen en departamentos endémicos. En cuatro niños el xenodiagnóstico fue negativo. Se confirmó la infección por serología en un varón de 4 años asintomático procedente de Montevideo. Conclusiones: el tratamiento parasitológico está contraindicado durante el embarazo. El diagnóstico antes de los 9 meses de edad requiere xenodiagnóstico (Instituto de Higiene. Facultad de Medicina, Universidad de la República), ya que la serología tiene falsos positivos biológicos por transmisión transplacentaria de anticuerpos maternos de tipo IgG. En esta pequeña serie la infección se confirmó en uno de los cinco casos. El control de la enfermedad requiere detección durante el embarazo y derivación oportuna y seguimiento de los hijos hasta el año de vida para descartar la enfermedad.

Chagas disease is a disease caused by Trypanosoma cruzi. In 1997 a certification was issued declaring the interruption of the vectorial transmission of T.cruzi in Uruguay. Within this context, non-vectorial transmission mechanisms became more important. Congenital infection is the only transmission mechanism in the country. This risk (4%) results in specific serologic testing for Chagas being mandatory in obstetric follow up visits of the 13 endemic departments of Uruguay and the maternity of the Pereira Rossell Hospital Center in Montevideo (Decree of the Executive Power N° 49085/95). The objective of the study is to describe five clinical cases of children to mothers with positive serology for Chagas, who were seen at Médica Uruguaya from 2011 through 2014. The mothers of all these children live in Montevideo, three of them used to live in endemic departments during their childhood (Rivera, Artigas, Tacuarembó) and the grandmothers on the mother’s side live in the endemic departments. Xenodiagnosis was negative in four children. Infection was confirmed in one four-year old asymptomatic boy who lived in Montevideo through serological testing. Conclusions: parasitological treatment must be avoided during pregnancy. Diagnosis prior to 9 months of age requires xenodiagnosis (Instituto de Higiene. School of Medicine, University of the Republic), since serological tests may provide biological false-positive test due to placenta transmission of IgG type maternal antibodies. In this small series, infection was confirmed in one of the five cases. Disease controls requires detection during pregnancy and timely referral, as well as follow up of children until they are one year old to discard the disease.

A doença de Chagas é uma zoonose causada pelo Trypanosoma cruzi. Em 1997 a transmissão vetorial de T.cruzi foi declarada interrompida no Uruguai. Nessas condições os mecanismos de transmissão não vetoriais passam a ser muito importantes. A infecção congênita é o único mecanismo de transmissão presente no país. Este risco (4%) justifica a obrigatoriedade da sorologia específica nos controles obstétricos nos 13 departamentos endêmicos e na maternidade do Centro Hospitalario Pereira Rossell em Montevidéu (Decreto do Poder Executivo Nº 4085/95). O objetivo deste trabalho é descrever cinco casos clínicos de filhos de mães com sorologia positiva para doença de Chagas atendidos na Médica Uruguaya no período 2011-2014. As mães de todas as crianças moram em Montevidéu, três passaram sua infância em departamentos endêmicos (Rivera, Artigas, Tacuarembó) e as avós maternas dos cincos casos moram em departamentos endêmicos. O xenodiagnóstico foi negativo em 4 crianças. A infecção foi confirmada por sorologia em um menino de 4 anos assintomático de Montevidéu. Conclusões: o tratamento parasitológico está contraindicado durante a gravidez. Para realizar o diagnóstico antes dos 9 meses de idade é necessário realizar xenodiagnóstico (Instituto de Higiene. Faculdade de Medicina, Universidad de la República), pois a sorologia apresenta falsos positivos biológicos devido à transmissão transplacentaria de anticorpos maternos de tipo IgG. Nesta pequena série a infecção foi confirmada em um dos cinco casos. O controle da doença requer sua detecção durante a gestação e tanto o encaminhamento oportuno como o seguimento dos filhos durante o primeiro ano de vida para descartá-la.

Transmisión vertical del vírus de la inmunodeficiencia humana: seguimiento de los hijos de mujeres con infección por el vírus de la inmunodeficiencia humana en una instituci¢n de asistencia médica colectiva, Uruguay (2008-2011) / Vertical transmission of human immunodeficiency virus: follow-up of children born to VIH infected women in a healthcare institution, Uruguay (2008-2011)

Introducción: la mayoría de los niños infectados con el virus de la inmunodeficiencia humana (VIH) lo adquieren por transmisión vertical (TV). En Uruguay, las cifras nacionales de TV se obtienen del Centro Nacional de Referencia. Se desconoce la experiencia en el manejo de esta patología de los prestadores integrales del subsector privado. Objetivo: describir el seguimiento de los hijos de mujeres con infección con VIH en Médica Uruguaya, conocer las características de la TV. Material y método: se incluyeron los hijos de mujeres con infección por VIH controlados entre los años 2008 y 2011. Se registraron variables maternas y del recién nacido. Resultados: los hijos de mujeres con infección con VIH fueron 26. Hubo un único niño infectado diagnosticado en la institución. Veinticuatro mujeres tenían diagnóstico de infección por VIH previo al nacimiento de sus hijos. Todas recibieron antirretrovirales durante la gestación, zidovudine (AZT) intravenoso intracesárea. Sus hijos recibieron AZT vía oral y alimentación exclusiva con leche modificada. Fueron dados de alta 18 niños, ocho están aún en seguimiento. Discusión: los resultados obtenidos en Médica Uruguaya podrían explicarse por el escaso número de embarazos no controlados y la atención protocolizada mediante un equipo multidisciplinario, con estrecho seguimiento desde el punto de visto biológico y social de las mujeres con infección con VIH, su núcleo familiar y sus hijos. Conclusiones: el seguimiento desde la gestación con involucramiento de la pareja para lograr adhesión al tratamiento, asistencia a los controles y compromiso con el cuidado del recién nacido permiten lograr buenos resultados en la TV de la infección por VIH. Debe considerarse la transmisión por la lactancia.

Introduction: almost all HIV infections among children are due to vertical transmission. In Uruguay, national figures corresponding to vertical transmission are reported by the National Reference Center. There is no information about the way comprehensive healthcare providers of the private sub-sector handle this disease.Objective: to describe follow-up of children born to HIV infected mothers at M‚dica Uruguaya to learn about vertical transmission.Method: the children of HIV infected women who were seen from 2008 through 2011 were included in the study. Maternal and newborn variables were recorded.Results: there were 26 children born to HIV infected women. Only one infected child was diagnosed in the health facility. Twenty four women had been diagnosed with HIV prior to the birth of their children. All women had been treated with antiretroviral drugs during pregnancy, and received IV zidovudine (AZT) during C-section. Children received oral AZT and were exclusively fed with modified milk. Eighteen children were released from hospital, eight of them are still being followed-up.Discussion: results obtained at M‚dica Uruguaya could be explained by the low number of non-controlled pregnancies and the existence of a protocol for healthcare by a multidisciplinary team, which implied close social and biological follow-up of HIV infected women, their families and children.Conclusions: follow-up starting at early pregnancy and involving partners to improve treatment adherence, check-up visits, and commitment with the newborn care allow for good results in HIV vertical transmission. Breastmilk transmission should be studied.

Introdução: o contágio da maioria das crianças infectadas com o vírus da imunodeficiência humana (VIH) foi por transmissao vertical (TV). No Uruguai, os dados nacionais sobre TV são obtidos do Centro Nacional de Referencia. Não se conhece a experiência do manejo desta patologia nas instituições de assistência integral de saúde do subsetor privado. Objetivo: descrever o seguimento dos filhos de mulheres com infecção com VIH na Médica Uruguaya; conhecer as características da TV. Metodologia: foram incluídos os filhos de mulheres com infecção por VIH controlados no período 2008-2011. Foram registradas variáveis das mães e dos recém nascidos. Resultados: foram identificados 26 filhos de mulheres com infecção com VIH. Somente uma criança infectada foi diagnosticada na instituição. Vinte e quatro mulheres apresentaram diagnóstico de infecção por VIH antes do nascimento de seus filhos. Todas foram medicadas com antirretrovirais durante a gestação, zidovudine (AZT) intravenoso intracesárea. Seus filhos receberam AZT via oral e foram alimentados exclusivamente com leite modificado. Dezoito crianças tiveram alta e oito ainda estão em seguimento. Discussão: os resultados obtidos na Médica Uruguaya poderiam ser explicados pelo baixo número de gestações não controladas e pela atenção protocolizada prestada por uma equipe multiprofissional, com seguimento estrito tanto do ponto de visto biológico como social das mulheres com infecção com VIH, seu núcleo familiar e seus filhos. Conclusões: o seguimento desde a gestação com participação do casal para conseguir adesão ao tratamento, assistência aos controles e compromisso com o cuidado do recém nascido permitem conseguir bons resultados na TV da infecção por VIH. A transmissão pela amamentação deve ser considerada.

Hidropisia fetal não imune: experiência de duas décadas num hospital universitário / Nonimmune hydrops fetalis: two decades of experience in a university hospital

OBJETIVO: Identificar a etiologia da hidropisia fetal não imune em gestantes diagnosticadas e encaminhadas para acompanhamento pré-natal. MÉTODOS: Estudo retrospectivo com análise dos casos de hidropisia fetal não imune que foram acompanhados entre março de 1992 e dezembro de 2011. Os casos tiveram confirmação diagnóstica pela presença de edema de subcutâneo fetal (≥5 mm) com derrame em pelo menos uma cavidade serosa por meio da ultrassonografia obstétrica, e a investigação etiológica foi realizada com pesquisa citogenética (cariótipo), infecciosa (sífilis, parvovírus B19, toxoplasmose, rubéola, citomegalovírus, adenovírus e herpes simples), hematológica e metabólica (erros inatos), além de com ecocardiografia fetal. Foram excluídas as gestações gemelares. A análise estatística foi efetuada pelo teste do χ² para aderência (software R 2.11.1). RESULTADOS: Foram incluídas 116 pacientes com hidropisia fetal não imune, sendo que 91 casos (78,5%) tiveram a etiologia elucidada e 25 casos (21,5%) foram classificados como causa idiopática. A etiologia cromossômica foi a que apresentou maior número de casos, totalizando 26 (22,4%), seguida da etiologia linfática com 15 casos (12,9%, sendo 11 casos de higroma cístico), da etiologia cardiovascular e da infecciosa com 14 casos cada (12,1%). Os demais casos tiveram etiologia torácica em 6,9% (oito casos), síndromes malformativas em 4,3% (cinco casos), tumores extratorácicos em 3,4% (quatro casos), metabólica em 1,7% (dois casos), hematológica, gastrintestinal e geniturinária em 0,9% cada (um caso cada). No período pós-natal, foram seguidos 104 casos por até 40 dias de vida, 12 casos tiveram morte fetal intrauterina. A sobrevida desses 104 recém-nascidos foi de 23,1% (24 sobreviveram). CONCLUSÃO: a etiologia da hidropisia diagnosticada na gestação deve tentar ser esclarecida, uma vez que está associada a um amplo espectro de doenças. É especialmente importante para determinar se uma condição potencialmente tratável está presente e para identificar doenças com risco de recorrência em futuras gestações para aconselhamento pré-concepcional adequado.

PURPOSE: To identify the etiology of nonimmune hydrops fetalis cases in pregnant women diagnosed and referred for prenatal care. METHODS: Retrospective analysis of cases with nonimmune hydrops fetalis that were monitored between March 1992 and December 2011. Diagnosis was confirmed by the presence of fetal subcutaneous edema (≥5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn errors) analysis and fetal echocardiography. Twin pregnancies were excluded. Statistical analysis was performed using the χ² test for adhesion (software R 2.11.1). RESULTS: We included 116 patients with nonimmune hydrops fetalis; the etiology was elucidated in 91 cases (78.5%), while 25 cases (21.5%) were classified as idiopathic. Most cases had a chromosomal etiology, for a total of 26 cases (22.4%), followed by lymphatic etiology with 15 cases (12.9% with 11 cases of cystic hygroma), and cardiovascular and infectious etiology with 14 cases each (12.1%). In the remaining cases, the etiology was thoracic in 6.9% (eight cases), malformation syndromes in 4.3% (five cases), extrathoracic tumors in 3.4% (four cases), metabolic in 1.7% (two cases), and hematologic, gastrointestinal and genitourinary in 0.9% (one case each). During the postnatal period, 104 cases were followed up until the 40th day of life, and 12 cases had intrauterine fetal death. The survival rate of these 104 newborns was 23.1% (24 survived). CONCLUSION: An attempt should be made to clarify the etiology of hydrops diagnosed during pregnancy since the condition is associated with a wide spectrum of diseases. It is especially important to determine whether a potentially treatable condition is present and to identify disease at risk for recurrence in future pregnancies for adequate pre-conception counseling.

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.

Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros / Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts

As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos pacientes afetados pelas MPS resulta em uma série de sinais e sintomas, integrantes de um quadro clínico multissistêmico que compromete ossos e articulações, vias respiratórias, sistema cardiovascular e muitos outros órgãos e tecidos, incluindo, em alguns casos, as funções cognitivas. Já foram identificados 11 defeitos enzimáticos que causam sete tipos diferentes de MPS. Antes do advento de terapias dirigidas para a restauração da atividade da enzima deficiente, o tratamento das MPS tinha como principal foco a prevenção e o cuidado das complicações, aspecto ainda bastante importante no manejo desses pacientes. Na década de 80 foi proposto o tratamento das MPS com transplante de medula óssea/transplante de células tronco hematopoiéticas (TMO/TCTH) e na década de 90 começou o desenvolvimento da Terapia de Reposição Enzimática (TRE), que se tornou uma realidade aprovada para uso clínico nas MPS I, II e VI na primeira década do século 21. Os autores deste trabalho têm a convicção de que um melhor futuro para os pacientes afetados pelas MPS depende da identificação, compreensão e manejo adequado das manifestações multissistêmicas dessas doenças, incluindo medidas de suporte (que devem fazer parte da assistência multidisciplinar regular destes pacientes) e terapias específicas...

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients results in a series of signs and symptoms, producing a multisystemic condition affecting bones and joints, the respiratory and cardiovascular systems and many other organs and tissues, including in some cases, cognitive performance. So far, eleven enzyme defects that cause seven different types of MPS have been identified. Before introduction of therapies to restore deficient enzyme activity, treatment of MPS focused primnarily on prevention and care of complications, still a very important aspect in the management of these patients. In the 80's treatment of MPS with bone marrow transplantation/hematopoietic stem cells transplantation (BMT/HSCT) was proposed and in the 90's, enzyme replacement therapy (ERT),began to be developed and was approved for clinical use in MPS I, II and VI in the first decade of the 21st century. The authors of this paper are convinced that a better future for patients affected by mucopolysaccharidoses depends upon identifying, understanding and appropriately managing the multisystemic manifestations of these diseases. This includes the provision of support measures (which should be part of regular multidisciplinary care of these patients) and of specific therapies...

Infecciones intrahospitalarias por adenovirus en niños asistidos en el Centro Hospitalario Pereira Rossell, 2001-2006 / Intra-hospital adenoviral infections in children seen at the Pereira Rossell Hospital Center, 2001-2006

Introducción: las infecciones nosocomiales por adenovirus en niños generalmente son más severas que las adquiridas en la comunidad. Desde el año 1999 se implementa una estrategiadenominada Plan de Invierno que tiene por objetivo mejorar la atención de los niños que se hospitalizan por infecciones respiratorias agudas bajas (IRAB) y prevenir las infecciones intrahospitalarias (IH) por virus respiratorios, en especial adenovirus. A pesar de ello se siguen notificando casos de infecciones intrahospitalarias por adenovirus en el Centro Hospitalario Pereira Rossell en los últimos años, lo cual nos motiva a describir lascaracterísticas de las mismas durante el período del 1° de enero del año 2001 al 31 de diciembre de 2006. Material y método: se diseñó un estudio retrospectivo descriptivo basado en la revisión de las historias clínicas de los pacientes, la base de datos informatizada pediasis del hospital,versión 4.02M, registros de la Comisión de Infecciones Intrahospitalarias y el Comité de Fallecidos del hospital. La muestra quedó conformada por 58 pacientes mayores de 29 días ymenores de 5 años que cumplían los criterios para infección respiratoria aguda baja intrahospitalaria viral y se confirmaba por la detección de antígenos de adenovirus en lassecreciones respiratorias por técnica inmunocromatográfica o inmunofluorescencia. Resultados: la mayoría de los pacientes eran varones sanos, 55 de los pacientes requirió internación en centro de tratamiento intensivo, 10 presentaron secuelas pulmonares al egreso y 19 falleció. Se observa una disminución en el número de IRAB intrahospitalarias en los últimos dos años (2005-2006), no registrando ningún fallecido.

Introduction: nosocomia infections due to adenovirus in children are usually less severe than those acquired in thecommunity. Since 1999 we implemented a strategy named Winter Plan, with the purpose of improving health careservices provided to children hospitalized due to acute lower respiratory infections (ALRI) and preventing intrahospital infections due to respiratory virus, especiallyadenovirus. In spite of this, cases of adenoviral intra-hospital infections continued to be reported the last year, atthe Pereira Rossell Hospital, what encourages us to describe their characteristics from January 1, 2001 through December 31, 2006. Method: we designed a retrospective descriptive study based on the review of medical histories, the hospitalÆs pediasia database - version 4.02M-, records by the Intra-Hospital Infections Commission and the HospitalÆs DeceasedCommittee. The sample consisted of 58 patients older than 29 days of age and younger than 5 years old that met the criteria of intra-hospital viral acute lower respiratory infection, confirmed by the detection of adenovirusantigens in respiratory secretions through immunochromatographictechnique or immunofluorescence.Results: most patients were healthy boys, 55 of patients required hospitalization in the ICU, 10 presented pulmonary sequels upon discharge, and 19 of patients died. We found a decrease in the number of intra-hospital ALRI in the last two years (2005-2006), there being no deaths.

Introdução: as infecções nosocomiais por adenovirus em crianças geralmente são mais graves que as adquiridas nacomunidade. Desde 1999 a estratégia Plano de Inverno vem sendo desenvolvida com o objetivo de melhorar a atenção das crianças hospitalizadas por infecçõesrespiratórias agudas baixas (IRAB) e prevenir as infecções intra-hospitalares (IH) por vírus respiratórios, especialmente os adenovirus. Apesar disso, nos últimos anos foramnotificados casos de infecções intra-hospitalares por adenovirus no Centro Hospitalar Pereira Rossell; por essarazão descrevemos suas características no período 1° de janeiro de 2001 a 31 de dezembro de 2006. Material e método: foi realizado um estudo retrospectivo descritivo baseado na revisão das histórias clínicas dos pacientes, na base de dados informatizada pediasis do hospital, versão 4.02M, nos registros da Comissão de Infecções Intra-hospitalares e Comitê de Falecidos dohospital. A amostra tinha 58 pacientes com mais de 29 dias de idade e menores de 5 anos com infecção respiratóriaaguda baixa intra-hospitalar viral confirmada pela detecção de antígenos de adenovirus nas secreções respiratórias por técnica imunocromatográfica ou imunofluorescência. Resultados: a maioria dos pacientes era do sexo masculino, sadios; 55 dos pacientes necessitaram internação na unidade de terapia intensiva, 10 apresentou seqüelas pulmonares na alta e 19 faleceu. Observa-se uma reduçãodo número de IRAB intra-hospitalares nos últimos dois anos (2005-2006), não havendo registro de nenhum óbito.

Testing intravitreal toxicity of rapamycin in rabbit eyes / Toxicidade intravítrea da rapamicina em olhos de coelhos

PURPOSE: To evaluate retinal toxicity of varying doses of rapamycin when injected intravitreally in rabbits. Rapamycin is a potent immunosuppressive agent with significant antitumor and antiangiogenic properties, clinically approved for prevention of organ transplant rejection. METHODS: Twelve New Zealand albino rabbits were divided into four groups. Four different doses of rapamycin were prepared in 0.1 ml: 20 µg, 50 µg, 200 µg, and 1000 µg. Each concentration was injected in one eye of three rabbits, and 0.1 ml volume of sterile BSS was injected into the contralateral eye of the three rabbits. Slit-lamp and fundoscopic examinations were performed and the animals were observed for 2 weeks for signs of infection, inflammation, and toxicity. A baseline ERG was performed before drug treatment and at day 14, after which the rabbits were euthanized. Histology of the enucleated eyes was studied to look for retinal toxicity. RESULTS: ERG results showed some decrease in scotopic response; however this was not dose related. ERG results were normal at 20 µg. Histological results showed no retinal toxicity in all groups. CONCLUSION: Although ERG changes were identified at dosages between 50-1000 µg, the histology of all groups up to 1000 µg did not show any discernable abnormalities.

OBJETIVO: Avaliar a toxicidade da injeção intravítrea de diferentes doses de rapamicina para a retina de coelhos. Rapamicina é uma potente droga imunossupressora aprovada clinicamente para a prevenção da rejeição de transplantes de orgãos. MÉTODOS: Doze coelhos albinos da Nova Zelândia foram usados neste estudo. Foram divididos em quatro grupos. Quatro diferentes doses de rapamicina foram preparadas nas seguintes concentrações: 20 µg, 50 µg, 200 µg, 1000 µg. Foram realizadas injeções intravítreas de 0,1 ml de cada concentração em um olho de três coelhos e 0,1 ml de solução salina foi injetada no olho contralateral de cada coelho. Foram realizadas biomicroscopia e fundoscopia e observamos sinais de inflamação, infecção ou toxicidade durante duas semanas. Fizemos um ERG antes do tratamento e outro 14 dias depois da injeção intravítrea. Os animais foram sacrificados, fizemos a enucleação dos olhos e preparamos o tecido para a avaliação histológica. RESULTADOS: Os resultados do ERG e da histologia demonstraram diminuição da resposta escotópica, entretanto essa diminuiçãão foi dose dependente. A histologia foi normal em todos os grupos. CONCLUSÃO: A injeção intravítrea de rapamicina levou a alterações eletrorretinográficas nos grupos de 50-1000 µg, entretanto a histologia foi normal em todos os grupos até 1000 µg.

Aptitud clínica de los médicos familiares en la identificación de la disfunción familiar en unidades de medicina familiar de Guadalajara, México

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Abstract: Introduction Families function as dynamic systems, where the different members stimulate each other to achieve common objectives. Family development is thus conceived as a chain of changes, in form and function, which follow evolution stages. The balance of positive and negative forces inside the family is translated into an evolution, and so the ability to respond to internal or external changes is vital to avoid discrepancies or clashes between the tasks and roles of the different family members. In this sense, family physicians must be able to identify any potential dysfunction or difficulty inside the family, and to facilitate the compatibility of tasks in order to reestablish the continuity and good functioning of the family. The family physicians' clinical aptitude is made up of a series of abilities intended to identify any signs and symptoms of dys-function. They must also be skilled in using auxiliary resources for the diagnosis and treatment of all these. Such an aptitude is measured by a structured and validated instrument. Material and methods This is an observational, prospective and comparative research of a 450 family physicians sample from 23 first level family health care medical clinics from the National Social Security Institute (Instituto Mexicano del Seguro Social: IMSS). All family physicians working at the clinics were included, excepting those who were at the time on vacation, worked the night shift, attended the ER, were absent or refused to participate. Clinical aptitude for family dysfunction was measured in three areas: 1. Identification of risk factors for family dysfunction; 2. Diagnosis with an integral point of view and 3. Proposal, identification and guidance, which describes a physician's ability to judge decisions taken on case reports and to propose alternative actions. Other variables taken into account were sex, age, specialty, years of experience, shift, clinic and type of contract. Instruments. The instrument was designed to integrate theory and practice. It was conformed by real case reports, which were condensed, divided in sections, and followed by a series of ques-tions with three possible answers: «true¼, «false¼ or «I don't know¼. In total, there were 187 questions, 94 of which were true and 93, false. Correct answers accounted for one point, while incorrect ones rested one point; «I don't know¼ answers had no effect on the results. There were 42 lines to explore risk factors; 24 to explore the use of diagnostic resources; 19 to explore the use of therapeutic resources; 36 to evaluate a physician's knowledge of family sociology; 42 to assess family psychology, and 24 designed to evaluate proposal abilities. It was all validated and standardized with a group of post-graduate medical residents in Family Medicine from Mexico City. The Richardson K index was 0.90. Clinical aptitude was measured using an ordinal scale, where a random level «1¼ was defined by <60 points; a low «2¼ level by 60-99 points; an intermediate «3¼ level by 100-139 points, and a high «4¼ level by >140 points. A descriptive and inferential statistical analysis was used with median, percentage, Mann-Whitney's and Kruskal-Wallis' tests. All this was then processed with the EPI INFO-6 and SPSS Plus software packages. Ethical considerations. This is a risk-free research, as established in the Health Research section of the Mexican Health Law. Ne-vertheless, a signed acceptance form was required from all participants. Results Table 1 shows the general characteristics of the study sample. In turn, table 2 presents clinical aptitude to identify family dysfunction, sorted by clinic. Clinics B and D had, respectively, a median of 105 and 102, with similar ranges. There were no statistically significant differences among the subindexes of each clinic. The diagnosis median was higher than that for guidance. Table 3 reveals a high level of clinical aptitude in 3% of the physicians, an intermediate level in 25%, a low level in 58%, and a random-defined level in 14%. There were no significant differences when clinical aptitude was correlated with sex, shift, type of contract, specialty and years of experience. Discussion. The main objective of a family dysfunction diagnosis is to reestablish the normal flow of a family's vital cycle with the support of a specialized physician. It has been reported that clinical aptitude measurement is useful to discriminate and establish the aptitude level of experiment and non-experiment physi-cians with the aim of creating educational opportunities. A slight advantage, with no significant difference, was appreciated in physicians who attended patients in their offices, which suggests they are in a better position to gain a higher level of trust from their patients. This is due to the fact that they attend a regular set group of patients assigned to their offices. Since the education of family physicians is aimed at offering an integral care to families, family dysfunction recognition is essential. Results also suggest a non-significant advantage from family physicians with curricular education (not all family physicians working at the IMSS have a degree in Family Medicine). Experienced physicians (10 to 19 years on the job) showed another non-significant advantage, which pointed to the value of clinical practice. This is a powerful reason to promote continuous educational programs for family physicians. Family physicians who worked the morning shift showed a non-statistical advantage over their afternoon shift counterparts. This could be explained by the fact that educational and other institutional activities are more likely to take place in the morning. The educational model of family physicians should promote the physicians' involvement in understanding how to become active elements in gathering their own knowledge. Such a model should promote physicians' initiatives for the development of an experience based on constructive critic. The current health care model is mainly focused on a biological interpretation of the health-disease process. However, this is only a partial approach which prevents the implementation of an integral clinical practice. From our research, we expect changes in institutional health care orientation and a reframing of the curricula of general and family physicians'. Although the acquisition of clinical aptitude requires the physicians' experience and involvement in developing their own knowledge, our results do not reflect this ideal condition. This is due to the low percentage of clinical aptitude, which correlates with an evident inability for research and interpretation. Half of the physicians were capable of elaborating diagnostic hypothesis and two thirds of them showed a adequate use of diagnostic resources, such as clinical tests, functional family diagnostic instruments and a guide to conform an integral family workup. All these should be useful educational tools to establish the social functions diagnosis of a family's members, together with their formal and informal roles and their importance in the healthdisease process. Guidance requires the ability to judge decisions taken by other professionals and make suggestions for alternative actions in case reports. This latter skill includes the use of therapeutic resources for only less than half of the physicians know how to properly use these resources. The use of instruments to measure aptitude, competency and work performance is a growing practice in continuous education and human resources formation. Even though these instruments are capable of discriminating high clinical aptitude, they cannot be used to account for this non-significant advantage, because educational activities are conceived as the consumption of infor mation and not as the acquisition of it from each one's experience. Overall, 58% of the family physicians showed a low level of clinical aptitude. Such a result reflects a poor ability to integrate daily experience.

Realidad del pie diabético del programa de diabetes mellitus del Hospital de Molina año 1999 / Reality of diabetic foot of the diabetes mellitus programme at Hospital de Molina, 1999

Se evaluó mediante cartilla de evaluación del pie diabético al 73 por ciento de la población en control de los pacientes diabéticos del Hospital de Molina, y así poder prevenir las invalidantes consecuencias de esta enfermedad. Los resultados muestran que el daño o alteración del pie es mayor a mayor edad y tiempo de evolución, más aún en varones, con mayor prevalencia en deformidad ósea, y a mayor tiempo de evolución de la enfermedad hay un notable aumento de la neuropatía diabética. El presente trabajo nos orienta para que el equipo de salud dirija los esfuerzos en mejor forma, destinados a la prevención del daño irreversible del pie diabético

Valvuloplastia pulmonar percutânea em Sindrome de Noonan / Percutaneous pulmonary balloon valvuloplasty in Noonan's Syndrome

Os autores descrevem o caso de uma menina de 14 anos portadora de Síndrome de Noonan e estenose pulmonar severa submetida à valvuloplastia pulmonar percutânea com cateter-baläo. Houve melhora sintomática importante após o procedimento, que transcorreu sem complicaçöes. No entanto, permaneceu obstruçäo residual na via de saída do ventrículo direito por hipertrofia infundibular, que regrediu após um ano e meio de acompanhamento. O caso é ilustrativo de alguns pontos controversos do uso da valvuloplastia pulmonar percutânea, como seu emprego em pacientes com válvulas displásicas e estenose importante, o tempo correto da indicaçäo, o uso de betabloqueadores após o procedimento, a técnica utilizada e o tamanho do baläo a ser empregado e suas repercussöes a médio e longo prazo