Familial chylomicronemia syndrome: A comprehensive clinical and genetic approach

Abstract The familial chylomicronemia syndrome (FCS) is characterized by very high levels of circulating triglycerides. FCS is caused by lipoprotein lipase (LPL) deficiency resulting from homozygous or biallelic loss-of-function variants in the LPL or other related genes. Here, we report a case of severe hypertriglyceridemia refractory to conventional therapy in a male patient diagnosed at 33 years of age. LPL activity was below 20%. During the clinical course, the patient developed severe acute pancreatitis in addition to other complications. Two heterozygous variants (c.984G>A and c.1139+6T>C) which had not been previously reported in the major databases were identified in the LPL gene. Treatment with volanesorsen was proposed based on its approved indication as an adjunct to diet in adult patients with confirmed FCS and at high risk for pancreatitis. Volanesorsen was effective and well-tolerated, and the patient did not experience abdominal pain or any other manifestations. The assessment of genetic characterization is essential to guide treatment decisions during follow-up, in addition to the patient's history, their comorbidities and clinical stigmas.

Primer registro documentado del Zorzal de Dorso Rojizo, Catharus fuscescens (Aves : Turdidae) para Loreto, Perú / First documented record of the Reddish back thrush, Catharus fuscescens (Aves : Turdidae) in Loreto, Peru

Resumen El 5 de octubre del 2019 se capturó un individuo de Catharus fuscescens, como parte de los muestreos mensuales del proyecto Monitoreo de las poblaciones de avifauna en el departamento de Loreto - Perú realizado por el Observatorio de Aves Loreto - LBO en la comunidad de San Rafael, distrito de Indiana, departamento de Loreto. Esta captura representa el primer registro documentado de C. fuscescens para el departamento de Loreto, confirmando la condición sugerida de migrante raro en el extremo noreste del Perú en su paso hacia el sur durante su migración hacia Sudamérica.

Abstract On October 5, 2019, an individual from Catharus fuscescens was captured, as part of the monthly sampling of the project Monitoring of birdlife populations in the department of Loreto - Peru conducted by the Loreto Bird Observatory - LBO in the San Rafael community, Indiana district, department of Loreto. This capture represents the first documentation of C. fuscescens for the department of Loreto, confirming the suggested condition of a rare migrant in the northeastern end of Peru as it moves south as its migration season to South America.

Características de pacientes con diagnóstico de patologías de ATM: una serie de casos / Characteristics of patients with diagnosis of TMJ pathologies: case series

Los tejidos que conforman la articulación temporomandibular (ATM) pueden verse afectados como cualquier otra articulación del cuerpo. Entre los factores etiológicos, podemos nombrar los traumáticos, infecciosos, autoinmunes y oclusales. El diagnóstico de las patologías de la ATM debe incluir una completa historia clínica, estudios de laboratorios y de imágenes. El objetivo del siguiente trabajo es describir características de una serie de pacientes que concurrieron a la consulta con signos y síntomas de patologías de la ATM a un consultorio particular en el sur de la provincia de Buenos Aires. Se estudió a 30 pacientes que concurrieron a la consulta con signos y síntomas de patología de la ATM; se completaron historias clínicas, se solicitaron estudios de laboratorio para la detección de anticuerpos específicos contra bacterias y resonancia nuclear magnética. La edad promedio de la población fue de 35 años, 26 eran mujeres y 25 tuvieron resultados de estudios bacteriológicos positivos. Sobre un total de 60 articulaciones, 54 presentaron alteración en la forma y de la posición del disco articular. Se verificó la importancia en la solicitud y asociación de estudios para el diagnóstico diferencial(AU)

Identidad profesional en estudiantes del sexto año de medicina humana de una universidad pública, 2013 / Professional identity in students of the sixth year of human medicine at a public university, 2013

Introducción. La identidad en los estudiantes configura su autorreconocimiento con la profesión e involucra lo personal, familiar, cognitivo, institucional y sociocultural. Objetivo. Conocer los componentes de la construcción de la identidad profesional y los principales fenómenos que interactúan en dicha construcción, en estudiantes de medicina humana de la Universidad Nacional Mayor de San Marcos. Métodos. Se realizó un estudio cuantitativo y cualitativo. Participaron del estudio 136 estudiantes del sexto año de estudios a quienes se les aplicó un cuestionario de identidad profesional. A 16 estudiantes se realizó entrevista abierta. El procesamiento de los datos se realizó con el software JMP V7. Resultados. De los 136 estudiantes evaluados, 63,2% tuvieron opinión favorable respecto a la identidad profesional; 34,6%, intermedia; y 2,2%, desfavorable. Del análisis cualitativo se encontró que la identificación temprana con la profesión, el apoyo brindado por la familia, así como el soporte afectivo, social y económico, fueron componentes presentes en los estudiantes entrevistados. Conclusiones. La identidad profesional en estudiantes de sexto año de medicina humana fue mayoritariamente favorable. La construcción de la identidad profesional tuvo como componentes a la identificación temprana con la profesión, la familia, y el soporte afectivo, social y económico.

Introduction. Identity in students configures their self-recognition with the profession and involves the personal, family, cognitive, institutional and sociocultural. Objective. Know the components of the construction of the professional identity and the main phenomena that interact in said construction, in students of human medicine of the National University of San Marcos. Methods. A quantitative and qualitative study was carried out. 136 students from the sixth year of study participated in the study and were given a professional identity questionnaire. Sixteen students underwent an open interview. The processing of the data was done with the JMP V7 Software. Results. Of the 136 students evaluated, 63.2% had a favorable opinion regarding professional identity; 34.6%, intermediate; and 2.2%, unfavorable. From the qualitative analysis it was found that the early identification with the profession, the support provided by the family, as well as the affective, social and economic support, were present components in the students interviewed. Conclusions. The professional identity in sixth-year students of human medicine was mostly favorable. The construction of the professional identity had as components to the early identification with the profession, the family, and the affective, social and economic support.

Conocimiento sanitario en Perú, siglo XVII / Knowledge of health in Peru 17th century

En el Virreinato del Perú, los hospitales y universidades se desarrollaron por caridad cristiana. La enseñanza memorística, la hegemonía eclesiástica y la escasa organización frustraron las ideas innovadoras sobre las ciencias por la ausencia de una élite civil capaz de formular las políticas de una educación superior. La llegada de la Real Expedición Filantrópica de la Vacuna, en 1806, difundió conocimientos y las primeras formas de organización sanitaria. Se instauraron las Juntas Departamentales de Vacunación, cuya conducción ocurrió en contradicciones en las primeras políticas públicas de control sanitario. Esta situación se mantuvo hasta la fundación del Anfiteatro Anatómico.

During the Viceroyalty of Peru, hospitals and universities were developed by Christian charity. Rote learning process, ecclesiastical hegemony, and poor organization frustrated innovative ideas about sciences by absence of a civilian elite capable of formulating higher education policies. The arrival of the Royal Philanthropic Expedition of the Vaccine, in 1806, spread the knowledge and the basis of sanitary organization. The Departmental Vaccination Boards were established, whose management occurred within contradictions in the first public policies of sanitary control. This situation remained until the Anatomical Amphitheater was founded.

Cefalometría tridimensional de la articulación temporomandibular en paciente postratamiento de patología articular sobre tomografía computadorizada / Three-dimensional cephalometry temporomandibular joint in post-treatment patient based on cone Beam computed tomography

La articulación temporomandibular (ATM)es una articulación de suma importancia para el odontólogo que va a abordar un tratamiento ortodóncico. Los tejidos duros y blandos pueden sufrir alteraciones a causa de distintos agentes etiológicos. El tratamiento de las patologías de la articulación temporomandibular a través de la utilización de la desprogramación mandibular electrónica, validada por la electromiografía de superficie, posibilita utilizar una posición muscular como refencia correcta de la mandíbula para abordar un tratamiento ortodóncico. Si bien estos parámetros permitían la obtención de mejores resultados y una mayor estabilidad, en ellos siempre quedaba en duda la ubicación del cóndilo en la fosa mandibular. El objetivo fue determinar la posición tridimensional del cóndilo en la fosa mandibular en pacientes postratamiento de patología de ATM, sobre imágenes de tomografía computadorizada de haz cónico (TCHC). Diecinueve pacientes, que habían sido tratados de sus patologías temporomandibulares, fueron estudiados por medio de imágenes obtenidas por TCHC y analizados por medio de un software de imagen de alta definición en diagnóstico, Dolphin Imaging 11,7. Un total de 38 articulaciones fueron analizadas mediante un cefalograma sagital y coronal. Los resultados indicaron que en el plano sagital, la localización anteroposterior del eje del cóndilo estuvo en una relación mesial al centro de la fosa mandibular y en el plano coronal, la evidencia estadística permitió validar la posición centrada del cóndilo. La cefalometría permitió determinar la posición tridimensional del cóndilo en pacientes tratados por patología articular. La presente investigación aporta información qeu puede ser tomada como referencia para complementar el diagnóstico ortodóncico.

The temporomandibular joint (TMJ)is a relevant articulation for the professional who is going to perform an orthodontic treatment. Different etiologic agents may alter hard and soft tissues. Treatment of TMJ pathologies through electronic mandibular deprogramming, validated by surface electromyography, enables the use of a muscle position as a correct benchmark of the mandible to undergo an orthodontic treatment. While these parameters permited to get better results and more stability, doubts about condyle position in the glenoid fossa always remained in them. The aim was to determine the three-dimensional condylar position in the glenoid fossa in post-treatment patients with TMJ disorders based on Cone Beam Computed Tomography (CBCT) images. Nineteen patients who had been treated for their TMJ pathologies were studied through CBCT images, and analyzed through a high-resolution image software for diagnosis,Dolphin Imaging 11,7. A total of 38 articulations were analyzed through sagittal and coronal cephalograms. Results showed that, in the plane sagittal, the anteroposterior position of the condylar axis was in a mesial relationship to the center of the glenoid fossa, and in the coronal plane, statistical evidence enabled to validate the condylar centered position. Cephalometry allowed determining the three-dimensional condiylar position in patients treated for joint pathology. The present piece of research provides information that may be taken as a benchmark to complement the orthodontic diagnosis.

Cayetano Heredia: el punto de partida y una dilatada enfermedad / Cayetano Heredia: A departure and a prolonged illness

Sobre el profesor Cayetano Heredia se ha construido una imagen laudatoria de su labor como primer decano de la Facultad de Medicina. Sin embargo, esta es una situación de espacios interrumpidos por las crisis políticas y económicas de las primeras décadas de la república. De igual manera, poco se ha tratado sobre su salud. La revisión de fuentes primarias nos permite valorar más aún su fecunda tarea, en la medida que esta se da en medio de una enfermedad crónica que lo llevaría a la muerte. Asimismo, se discute las causales sobre su no continuidad en el cargo de decano a pesar de una labor reconocida por la sociedad médica.

Much praise has been given to Cayetano Heredia's role as first dean of the Medical College of Lima. Less common are mentions on interruptions this work suffered as a result of the Peru's first decadesÆ economic turmoil and Heredia's own ailing health. This text draws on primary sources to share a new look on Heredia's remarkable achievements, the reasons behind his departure from his role -despite ample recognition of his work in Peruvian medical society- and the chronic illness that would lead to his ultimate death.

Occurrence of bovine herpesvirus type 4 DNA in Argentinean Holstein cattle from Santiago del Estero, Argentina / Ocorrência de DNA de herpesvírus bovino tipo 4 em gado Holstein argentino de Santiago del stero, Argentina

and from cattle with a variety of clinical signs. The pathogenic role of BoHV-4 remains unclear and it is unknown whether the virus acts as a primary pathogen or whether it facilitates secondary infections After natural or experimental infections, BoHV-4 can establish latency, mainly in cells of the monocyte/macrophage linage. Latent virus can be reactivated after glucocorticoid treatment or by stress factors. In 2007, BoHV-4 was isolated for the first time in Argentina, from samples of bovine abortions. In the present study, we used viral isolation, nested PCR and restriction endonuclease analysis (REA) to investigate the presence of BoHV-4 in bovine leukocytes from a single herd of dairy cattle with reproductive problems. In this work, we demonstrated that BoHV-4 genome is present in the leukocytes of a high proportion (63.4%) of animals, probably in a latent or persistent state. BoHV-4 was isolated from one out of eleven peripheral blood leukocyte (PBL) samples. By REA we demonstrated the existence of genomic variation among the strains circulating in this particular herd. Furthermore, all PBL samples evaluated in this study differed from the American prototype strain, DN 599. Overall, this work demonstrated that BoHV-4 is present in the leukocyte fraction of dairy cattle and that viral strains present in this herd are genetically divergent. Although BoHV-4 was detected in a herd with a background of reproductive disorders, it is not possible to conclude that the virus is the primary responsible for these conditions.

O herpesvírus bovino tipo 4 (BoHV-4) é um gama-herpesvírus que foi isolado de animais aparentemente saudáveis e de gado com uma variedade de sinais clínicos. O papel patogênico do BoHV-4 ainda não está claro e não se sabe se o vírus age como um patógeno primário ou se facilita infecções secundárias. Depois de infecções naturais ou experimentais, BoHV-4 pode estabelecer latência, principalmente nas células dos linhagens de monócitos/macrófagos. O vírus latente pode ser reativado após o uso de glicocorticóides ou por fatores de estresse. Em 2007, o BoHV-4 foi isolado pela primeira vez na Argentina, a partir de amostras de abortos bovinos. No presente estudo, utilizou-se o isolamento viral, nested PCR e análise com endonucleases de restrição (REA) para investigar a presença de BoHV4 em leucócitos de bovinos provenientes de um único rebanho de gado leiteiro com problemas reprodutivos. Neste trabalho, demonstramos que o genoma do BoHV-4 está presente nos leucócitos em uma elevada proporção (63,4%) dos animais, provavelmente em um estado latente ou persistente. BoHV-4 foi isolado de uma de cada onze amostras de leucócitos no sangue periférico (PBL). Por REA nós demonstramos a existência de variações genômicas entre as estirpes circulantes deste rebanho particular. Além disso, todas as amostras de PBL avaliados neste estudo diferiram da estirpe protótipo Americano, DN 599. Em geral, este estudo demonstrou que o BoHV-4 está presente na fração leucocitária do gado leiteiro e que as estirpes virais presentes neste rebanho são geneticamente divergentes. Embora que BoHV-4 foi detectado em um rebanho com história de distúrbios reprodutivos, não é possível concluir que o vírus é o principal responsável por estas condições.

Los derechos de los pacientes y el consentimiento informado en Perú / The rights of the patients and the assent informed in Peru

El presente trabajo revisa los nuevos elementos de la sociedad que transforman la relación médico paciente cambiándola de una relación paternalista a una autonomista. En este marco se discuten y esbozan los derechos de los pacientes y el papel del consentimiento informado como un instrumento que reconoce uno de estos. El consentimiento informado se constituye en un elemento de respeto al paciente y su vez una nueva forma de trabajo médico, el cual esta regulado en el Perú por la ley general de salud.

Leucosis bovina / Bovine leucosis

The enzootic form of bovine lymphosarcoma is the most common malignancy of cattle, especially dairy cattle. Its etiological agent, the bovine leukemia virus (BLV) is evolutionarily related to human T-cell leukemia viruses types I and II (HTLV and HTLV II). These three retroviruses share common structural and biological features that distingush them from other members of the retroviral family. BLV is widespread in the cattle population of most countries. However, clinical disease occurs much less frecuently and direct economic losses from morbidity and mortality are significant for individual cattle owners but not excessively burdensome to the cattle and meat packing industries. The primary economic loss to the cattle industry from bovine leukosis is tha actual and potential loss of export markets for cattle and semen. BLV can infect human and simian cells "in vitro", there is serological evidence that BLV infect chimpanzes and in the literature can be found circunstantial evidence for an association of bovine and human leukemia. There is hight incidence of BLV infectión in dairy cattle and the virus is excreted in milk. At present, no evidence had been found that BLV or infected cattle are human health hazards, however, any conclusion would be premature. To clarify this issue investigations applying the most sensitive methods will be necessary. Several sensitive and specific methods for the detection og BLV and BLV infected cattle have been developed. These include infectivity assays, serological tests, and molecular hydridization techniques. Since under natural conditions BLV is predominantly transmitted by contact and prenatural conditions BLV is predominantly transmitted by contact and prenatal infection occurs in less than 20% of calves born to infected dams, control and/or erradication programs wuld be feasibly