RESUMO
Several challenges exist for referral and transport of critically ill children in resource-limited regions such as Latin America; however, little is known about factors associated with clinical outcomes. Thus, we aimed to describe the characteristics of critically ill children in Latin America transferred to pediatric intensive care units for acute respiratory failure to identify risk factors for mortality. We analyzed data from 2,692 patients admitted to 28 centers in the Pediatric Collaborative Network of Latin America Acute Respiratory Failure Registry. Among patients referred from another facility (773, 28%), nonurban transports were independently associated with mortality (adjusted odds ratio = 9.4; 95% confidence interval: 2.4-36.3).
RESUMO
El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.
The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome.The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.
Assuntos
Humanos , Masculino , Recém-Nascido , Acrocefalossindactilia , Suturas Cranianas/diagnóstico por imagem , Anormalidades Congênitas , CraniossinostosesRESUMO
The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence Síndrome de Saethre-Chotzen: a propósito de un caso Saethre-Chotzen syndrome: a case report of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome. The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.
El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.
Assuntos
Acrocefalossindactilia , Acrocefalossindactilia/diagnóstico , Acrocefalossindactilia/genética , Suturas Cranianas , Heterozigoto , Humanos , Recém-Nascido , Proteínas Nucleares/genética , Proteína 1 Relacionada a Twist/genéticaRESUMO
Extracellular vesicles (EVs) have been identified within different body fluids and cell culture media. However, there is very little information on the secretion of these vesicles during early embryonic development. The aims of this work were first to demonstrate the secretion of extracellular vesicles by pre-implantation bovine embryos and second to identify and characterize the population of EVs secreted by bovine blastocysts during the period from day seven to nine of embryo culture and its correlation with further embryo development up to day 11. Bovine embryos were produced by in vitro fertilization (IVF) or parthenogenetic activation (PA) and cultured until blastocyst stage. Blastocyst selection was performed at day 7 post IVF/PA considering two variables: stage of development and quality of embryos. Selected blastocysts were cultured in vitro for 48 hours in groups (exp. 1) or individually (exp. 2) in SOF media depleted of exosomes. At day 9 post IVF/PA the media was collected and EVs isolated by ultracentrifugation. Transmission electron microscopy revealed the presence of heterogeneous vesicles of different sizes and population: microvesicles (MVs) and exosomes (EXs) of rounded shape, enclosed by a lipid bi-layer and ranging from 30 to 385 nm of diameter. Flow cytometry analysis allowed identifying CD63 and CD9 proteins as exosome markers. Nanoparticle tracking analysis generated a large number of variables, which required the use of multivariate statistics. The results indicated that the concentration of vesicles is higher in those blastocysts with arrested development from day 9 up to day 11 of in vitro development (6.7 x 108 particles/ml) derived from IVF (p <0.05), compared to PA blastocysts (4.7 x 108 particles/ml). Likewise, the profile (concentration and diameter) of particles secreted by embryos derived from IVF were different from those secreted by PA embryos. In conclusion, we demonstrated that bovine blastocysts secrete MVs/EXs to the culture media. Data suggest that characteristics of the population of EVs vary depending on embryo competence.
Assuntos
Blastocisto/fisiologia , Vesículas Extracelulares/fisiologia , Animais , Bovinos , Meios de Cultura , Técnicas de Cultura Embrionária/métodos , Vesículas Extracelulares/ultraestrutura , Técnicas In Vitro , Microscopia Eletrônica de Transmissão , Nanopartículas/metabolismoRESUMO
Estudio prospectivo diseñado con el fin de evaluar a los trabajadores de salud del Hospital Universitario de Caracas que notificaran exposición a fluidos corporales al Sistema de Vigilancia de Virus de Inmunodeficiencia Humana y Hepatitis Viral, desde los años 1991 hasta 1999. Las variables estudiadas fueron: fecha y sitio del accidente, categoría del personal, edad, género, fluido involucrado, tipo de exposición, instrumento utilizado, serología basal para Virus de Inmunodeficiencia Humana y hepatitis viral del paciente índice y del TS, tipo de profilaxis antirretroviral, efectos adversos y seroconversión al Virus de Inmunodeficiencia Humana. Se utilizó el método descriptivo serie de casos los cuales fueron analizados por Epi-info. Versión 5. Durante el período de estudio fueron evaluados 242 trabajadores de la salud con exposición a fluidos corporales, 65% accidentes fueron notificados los dos últimos años. Ciento sesenta y tres femeninos y 79 masculinos, edad promedio 43 años (rango de 21-65 años). Los trabajadores de la salud que notificaron exposición a fluidos corporales procedían principalmente de los servicios de medicina interna, emergencia y cirugía. El mayor número de los accidentes correspondió a los médicos, principalmente residentes de posgrado. Exposición de tipo parenteral fue observada en 197 casos (179 percutáneas, y 18 salpicaduras en mucosas). Exposición cutánea se observó en 14 y combinada (piel y mucosas) 23 casos. El instrumento utilizado en 179 exposiciones percutáneas fue aguja con lumen en 48%. El fluido corporal involucrado fue la sangre en el 73% de los casos. La fuente fue conocida en 65% de las exposiciones. La profilaxis antirretroviral posexposición fue indicada inicialmente en 52% de los TS. Los efectos adversos se presentaron en 40%, en 7 casos fue motivo de abandono de tratamiento. El seguimiento se realizó en el 80% de los casos. Un trabajador de salud presentó Virus de Inmunodeficiencia Humana ocupacional...
Prospective study designed to assess the health workers at the Hospital Universitario de Caracas to notify body fluid exposure to Human Immunodeficiency Virus Surveillance System and Viral Hepatitis, from the years 1991-1999. The variables studied were: date and place of the accident, staff category, age, gender, fluid involved, type of exposure, instrument used, and baseline serology for Human Immunodeficiency Virus and Viral Hepatitis of health workers and index patient, type of prophylaxis antiretroviral, side effects and Human Immunodeficiency Virus seroconversion. Descriptive method was used series of cases which were analyzed by Epi-info. Version 5. During the study period were evaluated health workers 242 with body fluid exposure, 65% accidents were reported the past two years. 163 female and 79 male, mean age 43 years (range 21-65 years). Health workers who reported exposure to body fluids were mainly of Internal Medicine, Emergency and Surgery. The greatest numbers of injuries were doctors, mainly postgraduate residents. Parenteral exposure rate was observed in 197 cases (179 percutaneous, splash to mucous membranes 18). Dermal exposure was observed in 14 and combined (skin and mucosa) 23 cases. The instrument used in 179 percutaneous exposures was needle lumen in 48%. The body fluid blood was involved in 73% of cases. The source was known in 65% of exposures. Antiretroviral prophylaxis post exposure was initially indicated in 52% of the TS. Adverse events occurred in 40 %, in 7 cases was cause for withdrawals. The monitoring was performed in 80%. A case of Human Immunodeficiency Virus occupational in which it ruled out other risk factors
Assuntos
Feminino , Sistema de Vigilância de Fator de Risco Comportamental , Compartimentos de Líquidos Corporais/virologia , HIV , Profilaxia Pós-Exposição/métodos , Infectologia , Vigilância em Saúde do TrabalhadorRESUMO
El infectológo es de gran importancia en los hospitales; realiza funciones en atención ambulatoria, hospitalización, control de infecciones hospitalarias, docencia, investigación, asesoria en epidemias y pandemias entre otras. Precisar el cumplimiento de las funciones del infectológo, investigando la carga laboral y académica en HUC durante la última década. Se analizaron los registros de atención al paciente y programas académicos cumplidos desde el 1 de enero 2000 al 31 de diciembre 2009, calculando el número de pacientes evaluados en cada una de las actividades asistenciales y horas académicas. Se evaluaron 110 691 pacientes atendidos a través de los años. La distribución de las actividades correspondió a 72 521 (65 %) de atención en consultas ambulatorias (35 % pacientes viviendo con VIH y 30 % no VIH); 18 682 interconsultas de pacientes hospitalizados para control de antimicrobianos (17 %); 12 792 (12 %) cursos de tratamiento administrados en la sala de tratamiento ambulatorio (STA); 3 764 (3 %) egresos del SEIA y 2 932 personas atendidas por exposición de riesgo biológico. La actividad académica fue regular durante la década, cumpliendose los programas correspondientes. El número de horas empleadas en las revistas a los pacientes hospitalizados en el SEIA fue > 300/año. Seis miembros del servicio participaron en el programa del control de infecciones del HUC. Residentes y especialistas del SEIA cumplieron las funciones del infectológo en la última década;El mayor número de pacientes fue atendido de forma ambulatoria (consultas y la STA).
Hospital role of infectious diseases (ID) specialists is important. They participate in outpatient and inpatient care, hospital infection control, academic and research activities, and also pandemic and epidemic issues. This study's aim was to assess the number of activities, booth academic and im patients care, and fulfillment of ID physicians'roles at HUC during the last decade. Analysis of records for patient care and academic programs during January 1, 2000 to December 31, 2009. The number of patients clinically assessed and academic hours spent was calculated. During the decade, 110 691 patients were evaluated. There was a progessive increase of patients cared fir throughout they years. The activities distribution was as follows: 72 521 (65 %) outpatients (35 % HIV infected patients y % non HIV); 18 682 inpatients assessed following HUC policy on antibiotic control (17 %); 12 792 (12 %) courses of treatment administered at the outpatient treatment clinic (OTC); 3 764 (3 %) discharged patients fron SEIA y 2 932 people evaluated because of biologic risk exposition. Academic activities were fulfilled according to the fellowship program. Physicians dedicated more than 300 hour/year for inpatient rounds at SEIA. Six specialist form the ID Service also Were Members of HUC Infection Control Committee. Physicians at SEIA have accomplished the role of ID doctors during the last decade; most patients were evaluated outpatients and at OTC.
Assuntos
Humanos , Masculino , Adulto , Feminino , Controle de Doenças Transmissíveis , Infectologia/educação , Infectologia , Hospitais MunicipaisRESUMO
OBJECTIVE: Osteomyelitis due to Candida species is an unusual but recognized entity. However, with the increasing occurrence of factors predisposing to candidemia and invasive candidiasis, candidal osteomyelitis is being diagnosed more frequently. An unusual case of Candida albicans osteomyelitis is reported here, along with a review of the published literature on previously reported cases of this disease. METHODS: Report of the case and literature review. RESULTS: In this case, Candida albicans was isolated from the talus; however, the diagnosis was made after several cultures were performed. Only one other case of Candida osteomyelitis located in foot bones was found in the review. CONCLUSIONS: It is thought that this is the first case reported in Venezuela, and only the second in international literature.
Assuntos
Candida albicans/isolamento & purificação , Candidíase/microbiologia , Osteomielite/microbiologia , Tálus/microbiologia , Idoso , Candidíase/diagnóstico , Feminino , Humanos , Osteomielite/diagnósticoRESUMO
Las meningoencefalitis por amibas de vida libre constituyen una infección infrecuente del SNC de dificil diagnóstico, sin tratamiento eficaz y con una evolución tórpida. Los antecedentes epidemiológicos, factores predisponentes, el alto índice de sospecha clínica y la visualización directa del LRC al fresco hacen el diagnóstico en la minoría de los casos, la gran mayoría se realiza en cortes cerebrales postmorten. Se hace la descripción de un paciente de 49 años con meningoencefalitis crónica por Acanthamoeba spp de curso fatal luego de 8 semanas de iniciado el cuadro, no siendo posible determinar la puerta de entrada ni un factor epidemiológico reconocido