On the origin of trisomy 21 Down syndrome

Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability. It is well known that the extra chromosome 21 most often originates from the mother, the incidence increases with maternal age, there may be aberrant maternal chromosome 21 recombination and there is a higher recurrence in young women. In spite of intensive efforts to understand the underlying reason(s) for these characteristics, the origin still remains unknown. We hypothesize that maternal trisomy 21 ovarian mosaicism might provide the major causative factor. Results: We used fluorescence in situ hybridization (FISH) with two chromosome 21-specific probes to determine the copy number of chromosome 21 in ovarian cells from eight female foetuses at gestational age 14–22 weeks. All eight phenotypically normal female foetuses were found to be mosaics, containing ovarian cells with an extra chromosome 21. Trisomy 21 occurred with about the same frequency in cells that had entered meiosis as in pre-meiotic and ovarian mesenchymal stroma cells. Conclusion: We suggest that most normal female foetuses are trisomy 21 ovarian mosaics and the maternal age effect is caused by differential selection of these cells during foetal and postnatal development until ovulation. The exceptional occurrence of high-grade ovarian mosaicism may explain why some women have a child with Down syndrome already at young age as well as the associated increased incidence at subsequent conceptions. We also propose that our findings may explain the aberrant maternal recombination patterns previously found by family linkage analysis

Cavernous haemangioma of the external auditory canal: clinical case and review of the literature

Although benign vascular lesions are frequent in the head and the neck region, clinical evidence of cavernous haemangioma of the external auditory canal is extremely rare; when present, the lesion invades the middle ear space. Herein, a rare case of a soft mass filling the external auditory canal, not involving the tympanic membrane, in a symptomatic 59-year-old male is described. Clinical and audiological characteristics, imaging studies and surgical treatment with histological evaluation are reported, which led to a diagnosis of a cavernous haemangioma. This is only the seventh case described in the literature, to date, not involving the tympanic membrane and the middle ear space. In addition, a review has been made of the relevant literature with respect to epidemiology, presentation, evaluation, pathology, and management options for haemangiomas arising in the external auditory canal

Leg ulcer and osteomyelitis due to methicillin-susceptible Staphylococcus aureus infection after fracture repair treatment: a case highlighting the potential role of prostaglandin E₁ vasodilator

Prostaglandins appear to reduce biofilm formation and chronicization of infections, and stimulate a rapid and effective clearance of infecting micro-organisms. We report a case of recovery from methicillin-susceptible Staphylococcus aureus (MSSA) osteomyelitis after multidisciplinary management with antibiotics, anti-thrombotics and prostaglandin E1 (PGE1) vasodilator, in a patient with tibial plateau fracture repaired with internal fixation devices. A 47-year-old HIV-negative male with chronic ulcer on the proximal third of the left leg was admitted to the Orthopaedic Unit of the Orestano Clinic in Palermo, Italy, for suspected osteomyelitis. A biopsy of the skin ulcer and blood cultures were performed and resulted positive for MSSA. Labelled leukocyte scintigraphy confirmed osteomyelitis. No clinical improvement was observed after combined antibiotic treatment with rifampicin plus trimethoprim-sulfamethoxazole. The patient underwent a 4-day therapeutic cycle: PGE1 (alprostadil 60 mg/day IV) combined with nadroparin calcium plus gentamicin, followed by treatment with aminaftone plus sulodexide plus levofloxacin. At discharge, the patient's painful symptoms had completely resolved and the ulcer had cicatrized; recovery from osteomyelitis was confirmed by scintigraphy. This treatment protocol including PGE1 may result in a significant improvement in quality of life and functional status of patients with a reduction in direct and indirect costs and economic benefit for the National Health Service

Epidemiologic aspects of closed-globe trauma

Purpose: To describe the epidemiologic aspects of closed-globe injury with contusion and its alterations. Methods: Forty patients with closed-globe injury, were analyzed prospectively between January 1998 and February 1999. They were attended at the Ocular Trauma Outpatient Clinic of the Department of Ophthalmology of the Escola Paulista de Medicina-Federal University of São Paulo. A complete ophthalmologic examination was performed in all patients and they were classified according to the new classification proposed by Pieramici et al (1997). Results: Sixty-seven and a half percent (67.5%) of the studied patients were less than 30 years old. The main causes were: accidents at home and acts of violence with 32.5% each. In relation to visual acuity, with best correction, 60.0% of the patients did not achieve 20/100 visual acuity. Seventy-five per cent (75.0%) showed improvement in visual acuity during follow-up and most in less than 1 month. Fifty-two and a half percent (52.5%) were classified as zone III. Fifty percent (50%) of the patients developed hyphema and 67.5% had some grade of angle recession, higher than 180° in 30.0%. Conclusions: In relation the patients attended at the Ocular Trauma Outpatient Clinic of the Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina (EPM), more than 13 years old, males, with closed-globe injury we may conclude: 1. it is more prevalent in adults; 2. the main causes were domestic accidents and violence (32.5% each); 3. it presents good visual acuity recovery, except for zone III patients; 4. fifty per cent developed hyphema; 5. more than a half had angle recession (67.5%) and 30.0% had angle recession over 180°.Objetivo: Descrever os aspectos epidemiológicos do traumatismo ocular fechado com contusão e suas alterações. Métodos: Foram avaliados, prospectivamente, 40 olhos de 40 pacientes, com idade superior a 13 anos, do sexo masculino, com traumatismo ocular fechado contuso, no período de janeiro de 1998 a fevereiro de 1999, atendidos no Ambulatório de Trauma Ocular do Departamento de Oftalmologia da Escola Paulista de Medicina-Universidade Federal de São Paulo (UNIFESP). Todos foram submetidos a exame oftalmológico completo e classificados de acordo com a nova classificação proposta por Pieramici et al. (1997). Resultados: Sessenta e sete e meio por cento (67,5%) dos pacientes tinham menos de 30 anos. As principais causas de traumatismo ocular contuso foram acidentes domésticos e violência com 32,5% cada. Em relação à acuidade visual, medida com a melhor correção, 60,0% apresentaram acuidade menor que 20/100 e 75,0% melhora da acuidade visual durante o acompanhamento, sendo que a maioria evoluiu com melhora em menos de 1 mês. Cinqüenta e dois e meio por cento (52,5%) foram classificados como zona III. Cinqüenta por cento (50%) dos pacientes evoluíram com hifema e 67,5% com algum grau de recessão angular, sendo 30% maior que 180°. Conclusões: Em relação aos pacientes atendidos no Ambulatório de Trauma Ocular da Universidade Federal do Estado de São Paulo - Escola Paulista de Medicina com idade menor de 13 anos e sexo masculino, com traumatismo ocular contuso podemos concluir que: 1. apresentou maior prevalência no adulto jovem; 2. as principais causas foram: acidentes domésticos e violência (32,5% cada); 3. apresenta boa recuperação da acuidade visual, exceto os pacientes zona III; 4. cinqüenta por cento evoluiu com hifema; 5. mais da metade, 67,5% apresentaram algum grau de recessão angular, sendo 30,0% maior que 180°.UNIFESP Departamento de OftalmologiaUNIFESP Departamento de Oftalmologia setor de Pronto Socorro e Trauma OcularUNIFESP, Depto. de OftalmologiaUNIFESP, Depto. de Oftalmologia setor de Pronto Socorro e Trauma OcularSciEL

Completeness of reporting of case reports in high-impact medical journals

Introduction: Case reports represent a relevant, timely and important study design in advancing medical scientific knowledge. They allow integration between clinical practice and clinical epidemiology. We aimed to assess the completeness of reporting (COR) of case reports published in high-impact journals. We assessed the COR of case reports using the CARE guidelines. Materials and methods: We selected three high-impact journals and one journal specialized in publishing case reports, in which we included all published case reports from July to December 2017. Median COR score was calculated per study, and CORs were compared between journals with and without endorsement of CARE guidelines. Results: One hundred and fourteen case reports were included. Overall median COR was 81%, IQR [63%-96%]. Sections with the highest COR (84%-100%) were patient information, clinical findings, therapeutic intervention, follow-up and outcomes, discussion and informed consent. Sections with the lowest COR were title, keywords, timeline and patient perspective (2%-34%). COR was higher in journals endorsing in comparison to those not endorsing CARE guidelines (77% vs 65%), respectively, median difference = −12% 95% CI [−16% to −7%]. Discussion: Overall completeness of case reports in included journals is high especially for CARE endorsing and dedicated journals but reporting of some items could be improved. Ongoing and future evaluations of endorsement status of reporting guidelines in medical journals should be assessed to improve completeness and reduce waste of clinical research, including case reports

New Energy Calibration of the CMAM 5MV Tandem Accelerator

Abstract Ion accelerators are fundamental in the ongoing research on materials for future energy sources, being the primary tool for understanding the behaviour of different classes of materials (functional, structural, diagnostic) under e.g. the intense radiation expected in fission reactors or the critical thermal operational conditions in IV generation fission reactors. The relevance of ion accelerators research extends straightforwardly to the modification and analysis of materials to be used in future developments of diverse non-nuclear sources like photovoltaic, fuel batteries, etc. From the analytical point of view, the energy of the accelerated ion needs, in many cases, to be known with a precision higher than e.g. the width of reaction resonances that are used for controlling either the yield of a reaction or the penetration depth of the ion, imposing a calibration of the accelerator terminal voltage. This paper reports on the new energy calibration performed for the 5 MV CMAM tandem accelerator

Repercussões da COVID-19 no cuidado ao idoso: percepções de enfermeiros da Atenção Primária à Saúde

Objective: to understand the perceptions of Primary Health Care (PHC) nurses about the repercussions of COVID-19 on the care and daily life of the elderly. Method: exploratory, descriptive study with a qualitative approach. Ten nurses from the PHC of Santa Catarina were integrated. Data collection took place through a semi-structured interview, between July and September 2021, with an application video call due to the pandemic. Content analysis was used to organize and assess the information. Results: two categories emerged: Repercussions of COVID-19 in the care of the elderly in PHC; COVID-19 and the transformations in the daily lives of the elderly regarding health care. Conclusion: the pandemic generated social and affective restrictions and reduced face-to-face activities carried out in PHC, culminating in changes in health. Therefore, the reflection and planning of actions regarding the care of the elderly in PHC are fundamental, especially regarding mental health, affected in the pandemic context.Objetivo: comprender las percepciones de los enfermeros de la Atención Primaria de Salud (APS) sobre las repercusiones de la COVID-19 en el cuidado y el cotidiano de los ancianos. Método: estudio exploratorio, descriptivo con abordaje cualitativo. Se integraron 10 enfermeros de la APS de Santa Catarina. La recolección de datos se realizó a través de una entrevista semi-estructurada, entre julio y septiembre de 2021, con una aplicación de video llamada debido a la pandemia. Para la organización y evaluación de la información se utilizó el análisis de contenido. Resultados: surgieron dos categorías: Repercusiones de la COVID-19 en el cuidado del anciano en la APS; COVID-19 y las transformaciones en el cotidiano de los ancianos para el cuidado de la salud. Conclusión: la pandemia generó restricciones sociales y afectivas, además de la reducción de las actividades presenciales realizadas en la APS, culminando en cambios en la salud. Por lo tanto, son fundamentales la reflexión y la planificación de acciones para el cuidado de los ancianos en la APS, especialmente en lo que respecta a la salud mental, afectada en la situación de pandemia.Objetivo: compreender as percepções de enfermeiros da Atenção Primária à Saúde (APS) sobre as repercussões da COVID-19 no cuidado e cotidiano do idoso. Método: estudo exploratório, descritivo, com abordagem qualitativa. Integraram-se 10 enfermeiras da APS de Santa Catarina. A coleta de dados ocorreu por meio de entrevista semiestruturada, entre julho e setembro de 2021, com chamada de vídeo em aplicativo devido à pandemia. Para a organização e avaliação das informações, utilizou-se a análise de conteúdo. Resultados: emergiram duas categorias: Repercussões da COVID-19 no cuidado ao idoso na APS; COVID-19 e as transformações no cotidiano dos idosos para o cuidado em saúde. Conclusão: a pandemia gerou restrições sociais e afetivas, além de reduzir atividades presenciais realizadas na APS, culminando em alterações na saúde. Portanto, a reflexão e o planejamento de ações perante o cuidado ao idoso na APS são fundamentais, principalmente quanto à saúde mental, afetada na conjuntura pandêmica

La vida en la ruralidad sur patagónica. Una aproximación reflexivadesde la perspectiva del análisis institucional y otros enfoques.

The article aims to present the progress made in the analysis of issues that cross the daily lives of members of a small rural community in southern Patagonia; as a product of the activities carried out within the framework of the Training Plan of the Research Initiation Scholarship granted by the UNPA. This Plan meant the affiliation to the Research Project "Analysis of Institutions and Social Practices in the world of rural life in Southern Patagonia" (29/A481), based in the IEC of the UARG. To this end, the data constructed from the information obtained in the exploratory study carried out in the Lago Argentino Department of the province of Santa Cruz, in the second quarter of 2021, was used; with the purpose of obtaining information about the daily life of the rural community of that area. In this sense, it is intended to make a contribution to critical reflection on some characteristics of daily life that contribute to theunderstanding of the rural world in southern Patagonia from an institutional approach. As first advances, it was possible to specify and readjust the preliminary proposal of  categories; In addition to delving into central issues for the fulfillment of the PI objectives, which are: history of settlement in Santa Cruz, demographic dynamics of the rural area in Argentina and Santa Cruz, theoretical perspectives that support the analysis, methodology used and results obtained so far. The incorporation to the research team was carried out as an advanced student of the Bachelor of Social Work of the UARG. For this reason, it was considered important from the disciplinary perspective of Social Work to reflect on some conditions that characterize the daily life of these communities in the present and contribute to the construction of a reliable database based on future interventions. It should be noted that studies on southern Patagonian rurality constitute an area of vacancy in Social Work.El artículo tiene como objetivo presentar los avances realizados en el análisis de temas que atraviesan la vida cotidiana de integrantes de una pequeña comunidad rural en Patagonia sur; como producto de las actividades realizadas en el marco del Plan de Formación de la Beca de Iniciación a la Investigación otorgada por la UNPA. Dicho Plan significó la adscripción al Proyecto de Investigación “Análisis de las Institucionesy de las Prácticas Sociales en el mundo de la vida rural en Patagonia Austral” (29/A481), radicado en el IEC de la UARG. A tal fin, se utilizaron los datos construidos a partir de la información obtenida en el estudio exploratorio realizado en el Departamento Lago Argentino de la provincia de Santa Cruz, en el segundo cuatrimestre de 2021; con el propósito de obtener información sobre la vida cotidiana dela comunidad rural de esa zona. En este sentido, se pretende realizar un aporte a la reflexión crítica sobre algunas características de la vida cotidiana que contribuya a la comprensión del mundo rural en la Patagonia austral desde un enfoque institucional. Como primeros avances se logró precisar y reajustar la propuesta preliminar de categorías; además de profundizar temas centrales para el cumplimiento de los objetivos del PI, los cuales son: historia del poblamiento en Santa Cruz, dinámica demográfica delámbito rural en Argentina y Santa Cruz, perspectivas teóricas que sustentan el análisis, metodología utilizada y resultados obtenidos hasta aquí. La incorporación al equipo de investigación se realizó como estudiante avanzada de la Licenciatura en Trabajo Social de la UARG. Por tal motivo, se consideró importante desde la mirada disciplinar del Trabajo Social reflexionar respecto de algunas condiciones que caracterizan la vida cotidiana de estas comunidades en el presente y aportar a la construcción de una base de datos confiable en función de futuras intervenciones. Cabe consignar que los estudios sobre la ruralidad sur patagónica constituyen un área de vacancia en el Trabajo Social.