RESUMO
BACKGROUND: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000-1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the malformation at cerebral and cerebellar levels, known as the "molar tooth sign," hypotonia, and delayed neurodevelopment. CASE REPORT: We describe the case of a newborn with transient tachypnea. However, during hospital stay, he showed other clinical signs not corresponding to the admission diagnosis, such as bradycardia, apneas, hypotonia, and alteration in swallowing mechanics. To rule out etiologies of central origin, we conducted a magnetic resonance of the brain and identified the "molar tooth sign," where the pathognomonic sign of Joubert syndrome. CONCLUSIONS: Rare genetic diseases may manifest as early as the neonatal period with non-specific signs. The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient's quality of life with a multidisciplinary management and genetic counseling.
INTRODUCCIÓN: El síndrome de Joubert es una rara condición genética con una prevalencia de 1:80,000 a 1:100,000. En la mayoría de los casos se presenta con un patrón de herencia autosómica recesiva, aunque se han reporatdo casos ligados al cromosoma X y autosómicos dominantes. La característica distintiva de este síndrome es la malformación a nivel cerebral y del cerebelo conocido como el "signo del molar", hipotonía y retraso en el neurodesarrollo. CASO CLÍNICO: Se describe el caso de un recién nacido con taquipnea transitoria del recién nacido; sin embargo, durante su estancia manifestó otros signos que no correspondían con el diagnóstico de ingreso, como bradicardia, apneas, hipotonía y alteración en la mecánica de la deglución. Para descartar etiologías de origen central, se realizó una resonancia magnética cerebral en la que se detectó el "signo del molar", patognomónico del síndrome de Joubert. CONCLUSIONES: Las enfermedades genéticas raras pueden manifestarse desde el periodo neonatal con signos muy inespecíficos. El diagnóstico precoz del Síndrome de Joubert permite un mejor seguimiento pediátrico que impacta en su pronóstico y en la posibilidad de mejorar la calidad de vida del paciente con un manejo multidisciplinario, así como brindar asesoramiento genético.
Assuntos
Anormalidades Múltiplas , Anormalidades do Olho , Doenças Renais Císticas , Masculino , Recém-Nascido , Humanos , Criança , Cerebelo/anormalidades , Cerebelo/patologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Anormalidades do Olho/patologia , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Doenças Renais Císticas/patologia , Retina/anormalidades , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/etiologia , Hipotonia Muscular/patologia , Qualidade de Vida , Diagnóstico PrecoceRESUMO
In Chile, the Immunization Department of the Ministry of Health has carried out the seasonal influenza vaccination campaign annually since 1982 in collaboration with the national health services, regional health offices, and primary health care centres. With the aim of preventing deaths and serious morbidity in high-risk groups and preserving the integrity of health services, the seasonal influenza campaign had been the largest implemented in Chile until 2020, since in 2021 the vaccination campaign against SARS-CoV-2 is expected to become the largest ever implemented. In response to local demographic and epidemiological changes, and taking into account the new scientific evidence on the safety and immunogenicity of vaccines, the influenza vaccines available in Chile would increase annually as a result of campaign planning. In 2020, the influenza campaign had to be re-planned while in progress due to the addition of new high-risk groups to be vaccinated in accordance with the SARS-CoV-2 pandemic health alert modification of March 6th, 2020. Over the course of three weeks, the Immunization Department managed to increase the doses of available influenza vaccines from 6,799,800 previously agreed upon to 8,480,325 and thus serve high-risk groups, guaranteeing their access to state funded influenza vaccination.
Assuntos
COVID-19 , Vacinas contra Influenza , Influenza Humana , Chile/epidemiologia , Humanos , Influenza Humana/epidemiologia , Influenza Humana/prevenção & controle , Pandemias , Saúde Pública , SARS-CoV-2 , Estações do Ano , VacinaçãoRESUMO
OBJECTIVE: To evaluate the frequency of intestinal parasites and risk factors associated with coccidian infection in patients cared for at a public hospital in Lima-Peru. METHODS: A descriptive, cross-sectional study was conducted using reports of the parasitology laboratory. Patients included were >18 years, who gave at least one faecal sample for parasitologic evaluation. Logistic regression was used to calculate Odd Ratios (OR) and 95%) confidence intervals. RESULTS: 2.056 patients were included in the analysis, 55.2% of them were males and 334 (16.3%) were HIV positive. Overall, Blastocystis hominis was the most frequent parasite (35.4%). The multivariate model adjusted for sex shows that HIV infection (OR = 4.53; 95% CI: 3.03-6.77), being hospitalized (OR = 2.42; 95% CI: 1.06-5.52), and age > or = 40 years (OR = 0.57; 95% IC: 0.37-0.86) were associated with coccidian infection. CONCLUSIONS: Blastocystis hominis was the most frequent parasite in HIV positive and negative patients. Being hospitalized and HIV infection were risk factors for coccidian infection, but age > or = 40 years was a protective factor.
Assuntos
Enteropatias Parasitárias/parasitologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Coccidiose/epidemiologia , Estudos Transversais , Feminino , Infecções por HIV/complicações , Humanos , Enteropatias Parasitárias/epidemiologia , Masculino , Pessoa de Meia-Idade , Peru/epidemiologia , Prevalência , Fatores de Risco , Adulto JovemRESUMO
Abstract Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000-1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the malformation at cerebral and cerebellar levels, known as the "molar tooth sign," hypotonia, and delayed neurodevelopment. Case report: We describe the case of a newborn with transient tachypnea. However, during hospital stay, he showed other clinical signs not corresponding to the admission diagnosis, such as bradycardia, apneas, hypotonia, and alteration in swallowing mechanics. To rule out etiologies of central origin, we conducted a magnetic resonance of the brain and identified the "molar tooth sign," where the pathognomonic sign of Joubert syndrome. Conclusions: Rare genetic diseases may manifest as early as the neonatal period with non-specific signs. The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient's quality of life with a multidisciplinary management and genetic counseling.
Resumen Introducción: El síndrome de Joubert es una rara condición genética con una prevalencia de 1:80,000 a 1:100,000. En la mayoría de los casos se presenta con un patrón de herencia autosómica recesiva, aunque se han reporatdo casos ligados al cromosoma X y autosómicos dominantes. La característica distintiva de este síndrome es la malformación a nivel cerebral y del cerebelo conocido como el "signo del molar", hipotonía y retraso en el neurodesarrollo. Caso clínico: Se describe el caso de un recién nacido con taquipnea transitoria del recién nacido; sin embargo, durante su estancia manifestó otros signos que no correspondían con el diagnóstico de ingreso, como bradicardia, apneas, hipotonía y alteración en la mecánica de la deglución. Para descartar etiologías de origen central, se realizó una resonancia magnética cerebral en la que se detectó el "signo del molar", patognomónico del síndrome de Joubert. Conclusiones: Las enfermedades genéticas raras pueden manifestarse desde el periodo neonatal con signos muy inespecíficos. El diagnóstico precoz del Síndrome de Joubert permite un mejor seguimiento pediátrico que impacta en su pronóstico y en la posibilidad de mejorar la calidad de vida del paciente con un manejo multidisciplinario, así como brindar asesoramiento genético.
RESUMO
OBJECTIVES.: Screening and treatment for substance use among people living with HIV/AIDS (PLWHA) is highly recommended. Nevertheless, in Peru healthcare for PLWHA does not include a standardized or systematic assessment to identify substance use. The aim of this study was to assess the feasibility of implementing screening, brief intervention and referral to treatment (SBIRT) in healthcare settings attending people living with PLWHA. MATERIALS AND METHODS.: After providing training in SBIRT for PLWHA's healthcare personnel (including nurses and physicians) focus groups were conducted to explore knowledge, beliefs and perceived barriers to implementation and interviews were conducted to assess the barriers and facilitators of two tertiary hospitals in Lima, Peru. RESULTS.: focus groups and interviews' thematic coding revealed three dimensions: 1) the unknown extent of substance use within PLWHA, 2) space and time limitations hinder completion of brief interventions during routine visits, and 3) insufficient access to substance use treatment appropriate for HIV patients. CONCLUSIONS.: Multiple barriers, including lack of awareness of substance use problems, limited space and time of providers, and lack of specialized services to refer patients for treatment make it difficult to implement SBIRT in the Peruvian healthcare system.
Assuntos
Síndrome da Imunodeficiência Adquirida/tratamento farmacológico , Encaminhamento e Consulta , Transtornos Relacionados ao Uso de Substâncias/terapia , Infecções por HIV , Acessibilidade aos Serviços de Saúde , Humanos , PeruRESUMO
Resumen Desde 1982, cada año el Departamento de Inmunizaciones del Ministerio de Salud de Chile lleva a cabo la campaña de vacunación contra influenza junto con las Secretarías Regionales Ministeriales-SEREMI, Servicios de Salud y centros de atención primaria de salud. Con los objetivos de prevenir mortalidad y morbilidad grave en grupos de mayor riesgo y de preservar la integridad de los servicios de salud, hasta el 2020 las campañas de vacunación contra influenza serían las más grandes implementadas en Chile, para dar paso, el 2021, a la vacunación contra SARS-CoV-2. Obedeciendo a cambios demográficos y epidemiológicos locales y acogiendo los avances científicos sobre seguridad e inmunogenicidad de la vacuna, el incremento de las vacunas influenza disponibles en Chile forma parte de la planificación anual de la campaña. El 2020, sin embargo, la Campaña Influenza tuvo que ser re-planificada en curso como consecuencia de la incorporación de nuevos grupos a vacunar según dispuso la modificación de la alerta sanitaria por brote de SARS-CoV-2 del 6 de marzo de 2020. Así, de 6.799.800 de dosis, el Departamento de Inmunizaciones logró en menos de dos meses aumentar la disponibilidad a 8.480.325, y cumplir con el compromiso de garantizar el acceso de los grupos de riesgo al beneficio de la vacunación estatal gratuita.
Abstract In Chile, the Immunization Department of the Ministry of Health has carried out the seasonal influenza vaccination campaign annually since 1982 in collaboration with the national health services, regional health offices, and primary health care centres. With the aim of preventing deaths and serious morbidity in high-risk groups and preserving the integrity of health services, the seasonal influenza campaign had been the largest implemented in Chile until 2020, since in 2021 the vaccination campaign against SARS-CoV-2 is expected to become the largest ever implemented. In response to local demographic and epidemiological changes, and taking into account the new scientific evidence on the safety and immunogenicity of vaccines, the influenza vaccines available in Chile would increase annually as a result of campaign planning. In 2020, the influenza campaign had to be re-planned while in progress due to the addition of new high-risk groups to be vaccinated in accordance with the SARS-CoV-2 pandemic health alert modification of March 6th, 2020. Over the course of three weeks, the Immunization Department managed to increase the doses of available influenza vaccines from 6,799,800 previously agreed upon to 8,480,325 and thus serve high-risk groups, guaranteeing their access to state funded influenza vaccination.
Assuntos
Humanos , Vacinas contra Influenza , Influenza Humana/prevenção & controle , Influenza Humana/epidemiologia , COVID-19 , Estações do Ano , Chile/epidemiologia , Saúde Pública , Vacinação em Massa , Programas de Imunização , Cobertura Vacinal , Pandemias , SARS-CoV-2RESUMO
The Mycobacterium avium complex (MAC) is a pathogen found in the environment which causes infections in immunocompetent and immunocompromised patients. One case is presented: an HIV positive, 38 year old male patient, infected with P. jirovecii and apparently infected with Mycobacterium tuberculosis since 2009. He was treated with antibiotic therapy for pneumocystosis and antituberculosis (TB) therapy, which achieved a partial improvement. In 2012, the patient underwent a culture test and new anti TB treatment. Upon suspicion of a drug resistant TB strain, it was recommended to perform the mycobacterial identification. The culture test was positive and the genotypic result was positive for MAC. The first case of an HIV/AIDS patient with MAC lung infection in Peru is reported, as well as a brief review of the epidemiological, clinical and treatment aspects to the case.
Assuntos
Infecções por HIV/complicações , Pneumopatias/complicações , Pneumopatias/microbiologia , Infecção por Mycobacterium avium-intracellulare/complicações , Síndrome da Imunodeficiência Adquirida/complicações , Adulto , Humanos , Masculino , PeruRESUMO
Billiary tract involvement in the course of disseminated histoplasmosis has been rarely reported. Here we present a severely immunosuppressed HIV-infected patient who presented with symptomatic acalculous cholecystitis caused by Histoplasma capsulatum.
Assuntos
Colecistite Acalculosa/diagnóstico , Infecções por HIV/complicações , Histoplasma/isolamento & purificação , Histoplasmose/diagnóstico , Colecistite Acalculosa/microbiologia , Colecistite Acalculosa/patologia , Histocitoquímica , Histoplasmose/microbiologia , Histoplasmose/patologia , Humanos , Hospedeiro Imunocomprometido , Masculino , Microscopia , Adulto JovemRESUMO
RESUMEN Objetivos. Evaluar la factibilidad de implementar la detección, intervención breve y referencia a tratamiento (SBIRT, por sus siglas en inglés) en los servicios de atención para personas viviendo con el virus de inmunodeficiencia humana/ síndrome de inmunodeficiencia adquirido (PVVS). Materiales y métodos. Se realizó un estudio de tipo cualitativo, luego de capacitar profesionales de salud (incluyendo, enfermeras y médicos) que proveen atención de salud a PVVS en la aplicación del SBIRT, se realizaron grupos focales para explorar las barreras percibidas para su implementación y se realizaron entrevistas para evaluar las barreras y facilitadores en dos hospitales de tercer nivel de Lima, Perú. Resultados. La codificación temática de los grupos focales y las entrevistas revelaron tres dimensiones principales de barreras: 1) el desconocimiento acerca del consumo de sustancias en las PVVS; 2) limitaciones de espacio y tiempo que dificultan las intervenciones breves durante las visitas de rutina, y 3) insuficientes servicios con capacidades para el tratamiento el uso de sustancias apropiadas donde puedan ser referidos los pacientes con estos problemas. Conclusiones. Múltiples barreras, incluyendo el desconocimiento por los problemas de consumo de sustancias, limitaciones de espacio y tiempo de los profesionales, y carencia de servicios especializados a donde referir los pacientes para un cuidado especializado, haría difícil implementar SBIRT en un contexto como el del sistema de salud peruano.
ABSTRACT Objectives. Screening and treatment for substance use among people living with HIV/AIDS (PLWHA) is highly recommended. Nevertheless, in Peru healthcare for PLWHA does not include a standardized or systematic assessment to identify substance use. The aim of this study was to assess the feasibility of implementing screening, brief intervention and referral to treatment (SBIRT) in healthcare settings attending people living with PLWHA. Materials and methods. After providing training in SBIRT for PLWHA's healthcare personnel (including nurses and physicians) focus groups were conducted to explore knowledge, beliefs and perceived barriers to implementation and interviews were conducted to assess the barriers and facilitators of two tertiary hospitals in Lima, Peru. Results. focus groups and interviews' thematic coding revealed three dimensions: 1) the unknown extent of substance use within PLWHA, 2) space and time limitations hinder completion of brief interventions during routine visits, and 3) insufficient access to substance use treatment appropriate for HIV patients. Conclusions. Multiple barriers, including lack of awareness of substance use problems, limited space and time of providers, and lack of specialized services to refer patients for treatment make it difficult to implement SBIRT in the Peruvian healthcare system.
Assuntos
Humanos , Encaminhamento e Consulta , Síndrome da Imunodeficiência Adquirida/tratamento farmacológico , Transtornos Relacionados ao Uso de Substâncias/terapia , Peru , Infecções por HIV , Acessibilidade aos Serviços de SaúdeRESUMO
El complejo Mycobacterium avium (MAC) es un patógeno que se encuentra en el medioambiente y causa infecciones tanto en pacientes inmunocompetentes como inmunocomprometidos. Se presenta el caso de un paciente VIH positivo varón de 38 años infectado por P. jirovecii y aparentemente infectado por Mycobacterium tuberculosis desde el año 2009, el cual fue tratado con antibioticoterapia para pneumocistosis y terapia antituberculosis (TB) logrando mejoría parcial. En el año 2012 se le realizó nuevamente examen de cultivo y un nuevo tratamiento anti TB, frente a la sospecha de estar en presencia de una cepa de TB multidrogorresistente se recomienda realizar la identificación micobacteriana. El examen de cultivo fue positivo y el resultado genotípico resultó positivo para MAC. Se reporta el primer caso de un paciente VIH/SIDA con infección pulmonar por MAC en el Perú, así como una breve revisión de los aspectos epidemiológicos, clínicos y de tratamiento.
The Mycobacterium avium complex (MAC) is a pathogen found in the environment which causes infections in immunocompetent and immunocompromised patients. One case is presented: an HIV positive, 38 year old male patient, infected with P. jirovecii and apparently infected with Mycobacterium tuberculosis since 2009. He was treated with antibiotic therapy for pneumocystosis and antituberculosis (TB) therapy, which achieved a partial improvement. In 2012, the patient underwent a culture test and new anti TB treatment. Upon suspicion of a drug resistant TB strain, it was recommended to perform the mycobacterial identification. The culture test was positive and the genotypic result was positive for MAC. The first case of an HIV/AIDS patient with MAC lung infection in Peru is reported, as well as a brief review of the epidemiological, clinical and treatment aspects to the case.
Assuntos
Adulto , Humanos , Masculino , Infecções por HIV/complicações , Pneumopatias/complicações , Pneumopatias/microbiologia , Infecção por Mycobacterium avium-intracellulare/complicações , Síndrome da Imunodeficiência Adquirida/complicações , PeruRESUMO
Objetivo: Comparar la sensibilidad de la biopsia gástrica en la detección de Helicobacter pylori (Hp) en pacientes que recibieron inhibidores de la bomba de protones (IBP) entre 7 y 14 días previos a la endoscopía digestiva alta y los que recibieron medicación diferente a IBP o no usaron medicación. Material y métodos: Estudio tipo serie de casos comparativo. Se incluyeron pacientes con dispepsia sometidos a endoscopía digestiva alta y biopsia gástrica en el Servicio de Gastroenterología del Hospital Nacional Cayetano Heredia entre noviembre 2008 y enero 2009, que habían recibido IBP entre 7 y 14 días. Se excluyeron pacientes con cáncer gástrico, cirugía previa, que se encontraban en terapia antibiótica o con salicilato de bismuto en las 4 semanas previas. Se tomaron dos biopsias en cuerpo y dos en antro. Se utilizó el programa STATA 10 para el análisis. Resultados: Se estudiaron 80 pacientes; 38 (47,5%) recibieron IBP. El 64,29% (27/42) de los que no tomaron IBP fueron Hp (+) y el 65,79% (23/38) de los que tomaron IBP (p=0,90). Conclusiones: La proporción de resultados positivos para Hp fue similar en los pacientes que tomaron IBP entre 7 y 14 días y los que no recibieron IBP.
Objective: To evaluate the sensitivity of gastric biopsy in detecting Helycobacter pylori (Hp) infection among patients who received proton pump inhibitors (PPI) 7-14 days before endoscopy compared to those who did not received PPI or who received a different medication. Methods: Case series. Patients with dyspepsia who undergo upper endoscopy and biopsy from November 2008 to January 2009 were included if they had received PPI 7-14 days before the procedure. Patients with gastric cancer, prior surgery and those who had received antibiotics or bismuth subsalicylate were excluded. Two biopsies of the main gastric body and atrum were taken. The STATA software was used for the analysis. Results: 80 patients were studied; 38 (47.5%) received PPI. 64.29% (27/42) of those who did not received PPI were Hp positive vs. 65.79% (23/38) in patients who received PPIs (p=0.90). Conclusions: Hp rate was similar irrespective of PPI use.
Assuntos
Humanos , Masculino , Adolescente , Adulto , Feminino , Adulto Jovem , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Biópsia , Dispepsia , Endoscopia Gastrointestinal , Helicobacter pylori , Inibidores da Bomba de Prótons/uso terapêutico , Relatos de CasosRESUMO
El siguiente trabajo es un intento de probar la efectividad de una intervención conjunta de psicología positiva con habilidades sociales en el contexto educativo. Para ello, se plantean cinco hipótesis referentes a las variables dependientes clima laboral, clima de aula, satisfacción vital y satisfacción laboral. Para probar lo anterior se utilizaron dos procedimientos cuasi experimentales. Los resultados muestran que la intervención basada en psicología positiva y habilidades sociales produce una significativa mejora en todas las variables concernientes a los profesores, a saber: satisfacción vital, satisfacción laboral y clima laboral. También produce un efecto positivo en el clima de aula de los alumnos, este efecto es más potente cuando se interviene en conjunto a los alumnos y a los profesores que cuando se trabaja sólo con los alumnos.
This paper is an attempt to test the effectiveness of a combined intervention of positive psychology with social skills in the educational context. To do this, there are five hypotheses concerning the dependent variables of work environment, classroom atmosphere, life satisfaction and job satisfaction. To test the above two procedures were used quasi-experimental. The results show that interventions based on positive psychology and social skills produces a significant improvement in all variables related to teachers, namely, life satisfaction, job satisfaction and labor climate. It also produces a positive effect on classroom atmosphere for students; this effect is strongest when it acts in conjunction with students and teachers when working only with students.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Docentes , Satisfação no Emprego , Satisfação Pessoal , Psicologia , Qualidade de Vida/psicologiaAssuntos
Humanos , Adulto , Feminino , Cefaleia , Exoftalmia , Febre , Oftalmoplegia , Trombose do Corpo CavernosoRESUMO
Se presenta el caso de un paciente varón de 31 años, con diagnóstico de infección por el virus de inmunodeficiencia humana (VIH) sin tratamiento antirretroviral, presentó lesiones ulcerativas en la región genital que luego progresaron por todo el cuerpo, se le diagnosticó sífilis secundaria. Fue tratado con penicilina benzatínica, con lo cual las lesiones desaparecieron. Se discute las pruebas diagnósticas realizadas y la terapéutica empleada. La coinfección por Treponema pallidum y por el VIH está presente en la población general y en especial en poblaciones de riesgo, como los hombres que tienen sexo con hombres y clientes de trabajadoras sexuales, esta situación puede afectar la presentación inicial así como el curso de la enfermedad.
We present a case of a 31-year-old male with HIV infection, not receiving antiretroviral therapy that presented an ulcerative lesion that began in the genital region and then progressed in all the body, with the diagnosis of secondary syphilis. He was treated with Benzatinic Penicillin and the lesions disappeared. We also discuss the available diagnostic tests and therapeutics regarding the case. Co-infection by Treponema pallidum and by HIV is present in the general population, especially in high-risk populations such as men who have sex with men and clients of sexual workers, and can affect the initial presentation and natural history of syphilis.