Intervención participativa comunitaria: necesidades de salud de las personas mayores durante el período de la pandemia por COVID-19 / Community participatory intervention: health needs of older people during the COVID-19 pandemic period

Objetivo. Proponer una intervención participativa comunitaria según las necesidades de salud percibida por las personas mayores del Programa de Salud Cardiovascular de un centro de salud familiar y comunitaria de una comuna de Santiago de Chile durante el período de la pandemia de la COVID-19. Métodos. Se utilizó una metodología participativa de la comunidad, la cual se desarrolló en dos fases: diagnóstico participativo comunitario y desarrollo de la propuesta participativa de una intervención en salud comunitaria. Resultados. Desde el diagnóstico participativo comunitario, los participantes eligieron el desarrollo de un programa educativo fundamentado en las necesidades de salud, además de la entrega de material educativo sobre estilos de vida saludable y recomendaciones para tener un buen control de sus enfermedades. Conclusión. Desde el diagnóstico y planificación participativa, es posible intervenir en pro de las necesidades de las personas, familias y comunidades y capacitarlas en el manejo de su propia salud. (AU)

Aim. To propose a community participatory intervention according to the health needs perceived by elderly people in the Family and Community Health Centre Cardiovascular Health programme of a Santiago de Chile commune during the COVID-19 pandemic. Methods. A community participatory methodology was used, which was developed over two phases: community participatory diagnosis and development of a participatory proposal for a community health intervention. Results. From the community participatory diagnosis, participants opted for development of an educational programme based on health needs, in addition to the delivery of educational material related to healthy lifestyles and recommendations for robust control of their diseases. Conclusion. From diagnosis and participatory planning, it is possible to intervene in favour of the needs of individuals, families and communities and train them in managing their own health. (AU)

Validation of N Protein Antibodies to Diagnose Previous SARS-CoV-2 Infection in a Large Cohort of Healthcare Workers: Use of Roche Elecsys® Immunoassay in the S Protein Vaccination Era.

The aim of this study was to validate the detection of anti-nucleocapsid protein (N protein) antibodies for the diagnosis of SARS-CoV-2 infection in light of the fact that most COVID-19 vaccines use the spike (S) protein as the antigen. Here, 3550 healthcare workers (HCWs) were enrolled from May 2020 (when no S protein vaccines were available). We defined SARS-CoV-2 infection if HCWs were found to be positive by RT-PCR or found to be positive in at least two different serological immunoassays. Serum samples from Biobanc I3PT-CERCA were analyzed by Roche Elecsys® (N protein) and Vircell IgG (N and S proteins) immunoassays. Discordant samples were reanalyzed with other commercial immunoassays. Roche Elecsys® showed the positivity of 539 (15.2%) HCWs, 664 (18.7%) were found to be positive by Vircell IgG immunoassays, and 164 samples (4.6%) showed discrepant results. According to our SARS-CoV-2 infection criteria, 563 HCWs had SARS-CoV-2 infection. The Roche Elecsys® immunoassay has a sensitivity, specificity, accuracy, and concordance with the presence of infection of 94.7%, 99.8%, 99.3%, and 0.96, respectively. Similar results were observed in a validation cohort of vaccinated HCWs. We conclude that the Roche Elecsys® SARS-CoV-2 N protein immunoassay demonstrated good performance in diagnosing previous SARS-CoV-2 infection in a large cohort of HCWs.

Percepción de usuarios de servicios de salud sobre la visibilidad social de los profesionales de enfermería durante la pandemia de COVID-19

Objetivo: Conocer la percepción de usuarios de los servicios de salud de tres comunas de Chile sobre la visibilidad social de los profesionales de enfermería durante el período de la pandemia de COVID-19. Material y Método: Estudio cualitativo descriptivo que utilizó la técnica del grupo focal. Se realizó un grupo focal con un muestreo de tipo intencionado conformado por siete participantes cuyos criterios de inclusión fueron ser usuarios del sistema de salud de Chile y mayor de 18 años. El reclutamiento de los participantes fue realizado por un afiche en redes sociales de la institución académica. La estrategia de análisis fue el de contenido. Resultados: Se encontraron tres temas y siete subtemas: la visibilidad de la profesión (imaginarios sociales, valoración de la labor, invisibilidad), primera línea (revaloración de los profesionales, seguridad y confianza) y género (profesión feminizada, invisibilidad). Conclusiones: Bajo el actual contexto de salubridad, la visibilidad de la enfermería se ha sostenido por situaciones que justamente son asociadas a la invisibilidad, salud mental, cargas laborales, cuestiones de género, entre otras. Se sugiere la realización de investigaciones que demuestren y difundan el importante rol de los profesionales de enfermería en la sociedad y promuevan su reconocimiento.

Objetivo: Conhecer a percepção de usuários dos serviços de saúde de três municípios do Chile sobre a visibilidade social dos profissionais de enfermagem durante o período da Pandemia da COVID-19. Material e Método: Estudo qualitativo descritivo que utilizou a técnica de grupo focal. Foi realizado um grupo focal com uma amostragem do tipo intencional, composta por sete participantes, cujos critérios de inclusão foram ser usuários do Sistema de Saúde do Chile e maiores de 18 anos. O recrutamento dos participantes foi realizado por um poster nas redes sociais da instituição acadêmica. A estratégia de análise foi de conteúdo. Resultados: Foram encontrados três temas e sete subtemas: a visibilidade da profissão (imaginários sociais, valorização do trabalho, invisibilidade), primeira linha (reavaliação dos profissionais, segurança e confiança) e gênero (profissão feminizada, invisibilidade). Conclusões: No contexto atual da saúde, a visibilidade da enfermagem tem sido sustentada por situações que se associam justamente à invisibilidade, saúde mental, carga de trabalho, questões de gênero, entre outras. Sugere-se a realização de pesquisas que demonstrem e divulguem o importante papel dos profissionais de enfermagem na sociedade e promovam seu reconhecimento.

Objective: To know the perception of users of health services in three communes of Chile regarding the social visibility of nursing professionals during the period of the COVID-19 Pandemic. Material and Method: Qualitative study with a descriptive design that used the focus group technique. A focus group was carried out with an intentional sampling, made up of seven participants whose inclusion criteria were: being users of the Chilean Health System and, older than 18 years. The recruitment of the participants was conducted by a poster in social networks of the academic institution. The analysis strategy was content. Results: Three themes and seven sub-themes were found. The themes were, the visibility of the profession (social imaginaries, value of work, invisibility), first line (revaluation of professionals, safety, and trust) and gender (feminized profession, invisibility). Conclusions: Under the current context of health, the visibility of nursing has been sustained by situations that are precisely associated with invisibility, mental health, workload, gender issues, among others. It is suggested that research be conducted to demonstrate and disseminate the significant role of nursing professionals in society and promote their recognition.

Evaluation of the communication of nursing students in the simulated teleconsultation: A cross-sectional study.

INTRODUCTION: The COVID-19 pandemic presented universities with the challenge of virtualizing the teaching-learning process. Simulated teleconsultation has been used in undergraduate training, which allows nursing students to interact with simulated patients remotely. Studies have identified that distance imposes communication barriers on all elements-sender, receiver and message-and in both forms of transmission: verbal and nonverbal. OBJECTIVE: To describe the communication of nursing students in teleconsultation with simulated patients in the context of primary health care. METHODS: This was a descriptive, cross-sectional study of 92 fifth-year nursing students. The communication variable was measured with the Connect Identify Understand Agree Help scale. In the data analysis, the mean and standard deviation of the scores on the 29 items of the scale were determined, as were the mean values for the total scale and for the 3 domains of the scale. RESULTS: The items that presented an average of less than 1 were primarily those related to the Agree and Help to Act domain. The total mean was 1.15, and the means for the domains Connect, Identify and Understand Problems and Agree and Help to Act were 1.53, 0.90 and 1.28, respectively. A weakness in the exploration of the psychosocial context of the simulated patients was observed. CONCLUSIONS: The results of this study, which evaluated communication in the context of distance care, corroborate the evidence regarding communication in real or simulated face-to-face situations. Studies that compare communication in various teaching-learning contexts, whether real or virtual, face-to-face or at a distance, are recommended.

Evaluación de la idoneidad de la teleconsulta simulada como herramienta de formación en Enfermería / Assessment of the suitability of mock teleconsultation as a training tool for Nursing

Objetivo: evaluar la idoneidad de la metodología de la teleconsulta simulada como herramienta del proceso de enseñanza-aprendizaje en la carrera universitaria de Enfermería, según los docentes y los estudiantes.Método: estudio descriptivo transversal. Se realizaron 32 teleconsultas simuladas con actores, con 48 estudiantes y seis docentes agrupados en distintos grupos de seis estudiantes y un docente en el que se trataron diferentes temáticas. Para analizar la idoneidad de esta metodología se crearon dos grupos focales: uno con seis docentes y otro con seis estudiantes en el que se animó a describir las fortalezas y debilidades de la interacción a distancia. El análisis de la información se llevó a cabo mediante codificación sustantiva, sustentada en la teoría fundamentada, con codificación abierta y codificación selectiva, a través del cual se extrajeron temas centrales y subtemas.Resultados: del análisis de los discursos de los estudiantes se generaron dos subtemas: formación colectiva y aprendizaje limitado. En el primero destacó la relación docente-estudiante y las intervenciones de los demás compañeros, así como poder seguir con la formación durante la pandemia de la COVID-19, y como debilidades destacaron no ser una metodología útil para actividades presenciales y que no facilita adquirir pericia. Los docentes generaron dos subtemas: aprendizaje horizontal y colaborativo y limitación para una atención integral. En el primero destacó que debería implementarse esta herramienta en el futuro como una forma creativa más dentro del proceso de enseñanza-aprendizaje, se favoreció el control y seguimiento del proceso de formación de los estudiantes por parte de los docentes y destacó la mejora de la disposición y el compromiso de los estudiantes. Como limitación los docentes expresaron sus preocupaciones con el proceso de evaluación de los estudiantes, con la calidad tecnología y de conectividad de las teleconsultas, y coincidieron con los estudiantes...(AU)

Objective: to assess the suitability of the mock teleconsultation methodology as a tool for the teaching-learning process in the Nursing University degree, according to professors and students.Method: a cross-sectional descriptive study, including 32 mock teleconsultations with actors, with 48 students and 6 professors assigned to different arms of six students and a professor, where different subjects were dealt with. In order to assess the suitability of this methodology, two focus groups were conducted: one with six professors and another one with six students, who were encouraged to describe the strengths and weaknesses of remote interaction. The information was analyzed through noun coding, based on grounded theory, with open coding and selective coding, in order to extract central themes and subthemes.Results: two subthemes were generated from the analysis of the speech of students: collective training and limited learning. In the first one, the teacher-student relationship and interventions by other students stood out, as well as the ability to continue training during the COVID-19 pandemic; and as weaknesses, they highlighted that this was not a useful methodology for face-to-face activities, and that it did not help to acquire skills. Professors generated two subthemes: horizontal and collaborative learning, and limitation for comprehensive care. In the first one, it was highlighted that this tool should be implemented in the future as one more creative method within the teaching-learning process; it encouraged supervision and follow-up of the training process of students by professors, and the improvement in willingness and commitment of students was highlighted. As a limitation, professors stated their concern with the evaluation process for students, with the technological and connectivity quality of teleconsultations, and coincided with students in the lack of ability of this methodology to replace face-to-face physical examination processes...(AU)

Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings.

Sudden death (SD) is defined as the unexpected natural death occurred within an hour after the onset of symptoms or from the last moment the subject has been seen in a healthy condition. Brugada syndrome (BrS) is one of the most remarkable cardiac causes of SD among young people. We report the case of a 20-year-old man who suddenly died after reportedly having smoked cannabis. Autopsy, toxicology, and genetic testing were performed. Autopsy found a long and thick myocardial bridging (MB) at 2 cm from the beginning of the left anterior descending coronary artery. Furthermore, at the histopathological examination, fibrosis and disarray in myocardial area above the MB, fatty tissue in the right ventricle and fibrosis of the sino-atrial node area were found. Toxicology testing was inconclusive, while genetic testing found a rare missense variant of the TTN gene, classified as likely benign, and a variant of unknown significance in the SLMAP gene (a gene that can be associated with BrS). Hence, despite several atypical features were found, no inference on the cause of the death could be made under current evidence.

Overall survival prediction in metastatic castration-resistant prostate cancer treated with radium-223.

OBJECTIVE: Radium-223(223Ra) is indicated for patients (p) with metastatic castration resistant prostate cancer (mCRCP). OBJECTIVES: The aim of this study was to evaluate the role of baseline clinical variables associated with overall survival (OS) and toxicity of 223Ra. Its purpose was to identify the factors that can predict a better response to treatment and provide information regarding the most appropriate time for the application of 223Ra. MATERIALS AND METHODS: Prospective study in 40p with mCRPC treated with 223Ra. End points were OS, progression-free survival and time to progression. The follow-up parameters were: doses received, hemoglobin (Hb), absolute neutrophil count (ANC), platelet count (PC), prostate specific antigen (PSA), alkaline phosphatase (ALP), Visual Analogue Scale for pain, Eastern Cooperative Oncology Group (ECOG) and WHO's Cancer Pain Ladder. The use of other treatments was also evaluated. RESULTS: Median OS was 17.1 months(mo) (CI95%6.5-27.7); 26/40p received complete treatment of 223Ra, without reaching a median OS and 14p received incomplete treatment with a median OS 13.6mo(CI95%1.6-25.6). Median follow-up was 11.2mo (range:1.3-45.2). The univariate analysis showed that factors as VAS, ECOG, Hb and ALP values were independently associated with OS. First line treatment with 223Ra was started in 11/40p, while 19p had been heavily pre-treated and 13p received concomitant treatment. CONCLUSIONS: 223Ra therapy require an adequate selection of patients to obtain the greatest clinical benefit. Low basal Hb, hight basal ALP, bone marrow involvement and an altered ECOG were the main factors that decreased OS in our patients. 223Ra should be considered relatively early in the course of treatment. Available at. https://www.intbrazjurol.com.br/pdf/aop/2019-0343OA.pdf.

Overall survival prediction in metastatic castration-resistant prostate cancer treated with radium-223

ABSTRACT Objective Radium-223(223Ra) is indicated for patients (p) with metastatic castration resistant prostate cancer (mCRCP). Objectives The aim of this study was to evaluate the role of baseline clinical variables associated with overall survival (OS) and toxicity of 223Ra. Its purpose was to identify the factors that can predict a better response to treatment and provide information regarding the most appropriate time for the application of 223Ra. Materials and Methods Prospective study in 40p with mCRPC treated with 223Ra. End points were OS, progression-free survival and time to progression. The follow-up parameters were: doses received, hemoglobin (Hb), absolute neutrophil count (ANC), platelet count (PC), prostate specific antigen (PSA), alkaline phosphatase (ALP), Visual Analogue Scale for pain, Eastern Cooperative Oncology Group (ECOG) and WHO's Cancer Pain Ladder. The use of other treatments was also evaluated. Results Median OS was 17.1 months(mo) (CI95%6.5-27.7); 26/40p received complete treatment of 223Ra, without reaching a median OS and 14p received incomplete treatment with a median OS 13.6mo(CI95%1.6-25.6). Median follow-up was 11.2mo (range:1.3-45.2). The univariate analysis showed that factors as VAS, ECOG, Hb and ALP values were independently associated with OS. First line treatment with 223Ra was started in 11/40p, while 19p had been heavily pre-treated and 13p received concomitant treatment. Conclusions 223Ra therapy require an adequate selection of patients to obtain the greatest clinical benefit. Low basal Hb, hight basal ALP, bone marrow involvement and an altered ECOG were the main factors that decreased OS in our patients. 223Ra should be considered relatively early in the course of treatment.

Case report: Misleading serological diagnosis of paracoccidioidomycosis in a young patient with the cute form disease: Paracoccidioides brasiliensis or paracoccidioides lutzii?

Negative results in serological routine screening of patients with microbiologically proven aracoccidioidomycosis (PCM) are occasionally reported. Failure in detecting anti-Paracoccidioides antibodies has been ascribed to factors either related to serological techniques or to the status of the host immune reactivity. Recently, this issue has been renewed by the recognition that the Paracoccidioides genera comprises two species, lutzii and brasiliensis, which have distinct antigenic profiles and, therefore, may elicit different host antibody responses. We describe a patient with the acute form PCM due to Paracoccidioides brasiliensis with negative results on two reference centers' routine screening for P. brasiliensis antibodies, but positive results with Paracoccidioides lutzii antigens. The present case report suggests that antibodies elicited during P. brasiliensis infection recognize antigenic fractions shared by both species, highlighting the difficulties in distinguishing the two infections by means of the currently available routine serological assays

Case Report: Misleading Serological Diagnosis of Paracoccidioidomycosis in a Young Patient with the Acute Form Disease: Paracoccidioides brasiliensis or Paracoccidioides lutzii?

Negative results in serological routine screening of patients with microbiologically proven Paracoccidioidomycosis (PCM) are occasionally reported. Failure in detecting anti-Paracoccidioides antibodies has been ascribed to factors either related to serological techniques or to the status of the host immune reactivity. Recently, this issue has been renewed by the recognition that the Paracoccidioides genera comprises two species, lutzii and brasiliensis, which have distinct antigenic profiles and, therefore, may elicit different host antibody responses. We describe a patient with the acute form PCM due to Paracoccidioides brasiliensis with negative results on two reference centers' routine screening for P. brasiliensis antibodies, but positive results with Paracoccidioides lutzii antigens. The present case report suggests that antibodies elicited during P. brasiliensis infection recognize antigenic fractions shared by both species, highlighting the difficulties in distinguishing the two infections by means of the currently available routine serological assays.

Utilidad de la 18F-FDG PET/TC en la valoración de tumores de la vaina nerviosa / The Value of 18F-FDG PET/TC in the Assessment of Peripheral Nerve Sheath Tumors

La 18F-FDG PET/TC tiene un papel importante en la evaluación de los tumores de la vaina nerviosa periférica, especialmente para determinar la posibilidad de malignidad y el sitio idóneo para la toma de biopsia. Se expone el caso de una mujer de 34 años de edad con diagnóstico de tumor de vaina nerviosa periférica, localizado en el mediastino posterior, que generó síndrome de vena cava superior y síndrome de Horner. Se realizó 18F-FDG PET/TC para hacer el diagnóstico diferencial entre benignidad y malignidad. Se encontró masa heterogénea con áreas hipermetabólicas que alcanzaban un SUVmax (valor de captación estándar máximo) de 8,5, hallazgos que sugerían origen maligno con diferentes grados de diferenciación. La biopsia de los lugares con mayor metabolismo arrojó el resultado de tumor maligno de vaina nerviosa periférica.

18F-FDG PET/CT is a useful imaging modality in the diagnosis and follow-up of peripheral nerve sheath tumors, especially in the assessment of tumor grade and biopsy guidance. The case of a 34-years-old woman diagnosed with peripheral nerve sheath tumor located in the posterior mediastinum that generated superior vena cava syndrome and Horner syndrome is presented. 18F-FDG PET/TC was performed to assess the possibility of malignancy. An 18F-FDG PET/CT was performed to determine whether it was benign or malignant, a heterogeneous mass with hypermetabolic areas with a maximum standardized uptake value (SUVmax) of 8.5 was found, and suggested malignancy with multiple grades of differentiation. A tumor biopsy from the region of higher metabolism was recommended with pathology result of malignant peripheral nerve sheath tumor.

El cuerpo carotídeo en la homeostasis de la glucosa / The carotid body in glucose homeostasis

Los cambios en los niveles de glucosa en la sangre periférica o central se detectan por sensores a la glucosa situados en: los núcleos hipotalámicos, el páncreas, el núcleo del tracto solitario, el sistema portal hepático y los receptores del cuerpo carotídeo. El cuerpo carotídeo o glomus caroticum es un órgano quimiosensorial localizado de forma bilateral en la vecindad de la bifurcación de la carótida común. Los cuerpos carotídeos son sensores polimodales, que detectan los niveles de oxígeno, pH, bióxido de carbono, temperatura, osmolaridad, potasio, glucosae insulina en la sangre que los irriga. El objetivo de esta revisión es describir los trabajos realizados por Ramón Álvarez-Buylla y colaboradores en el Laboratorio de Neuroendocrinología del Centro Universitario de Investigaciones Biomédicas de la Universidad de Colima, y de otros investigadores, relacionados con el estudio de los cuerpos carotídeos en la homeostasis de la glucosa. Los CCs responden a la hipoglucemia a través de la depleción de trifosfato de adenosina, o a cambios en el pH y pO 2, sin depleción de trifosfato de adenosina. Es cada vez más evidente que los CCs juegan un papel fisiológico importante en la homeostasis de este carbohidrato, y que el estrés hipóxico ejerce una influencia tónica en la secreción de diversos neurotrasmisores y hormonas como la arginina-vasopresina, el óxido nítrico, el factor neurotrófico derivado del cerebro, ácido gamma-aminobutírico, glucagón, cortisol y otros, que participan en el procesamiento central de los mecanismos contrarregulatorios en la homeostasis glucémica. Los CCs inician respuestas contrarreguladoras a la hipoglucemia con la participación de la hipófisis, las adrenales, el páncreas y el sistema simpático.

Changes in glucose levels in the peripheral or central blood are detected by sensors located on glucose: hypothalamic nuclei, the pancreas, the nucleus tractus solitarius, the hepatic portal system and carotid body receptors. The carotid body or glomus caroticum is a chemosensory organ located bilaterally in the vicinity of the bifurcation of the common carotid. The carotid bodies are polymodal sensors, which detect levels of oxygen, pH, carbon dioxide, temperature, osmolarity, potassium, glucose and insulin in the blood that irrigates. The objective of this review is to describe the work done by Ramon Alvarez-Buylla and colleagues in the Laboratory of Neuroendocrinology at the University Center for Biomedical Research at the University of Colima, and other researchers, related to the study of the carotid bodies in homeostasis glucose. CCs respond to hypoglycaemia through depletion adenosine triphosphate, or to changes in pH and PO2 without depletion adenosine triphosphate. It is increasingly evident that CCs play an important physiological role in the homeostasis of this carbohydrate, and hypoxic stress exerts a tonic influence on the secretion of various neurotransmitters and hormones such as arginine vasopressin, nitric oxide, neurotrophic factor derived from brain gamma-aminobutyric acid, glucagon, cortisol and others involved in the central processing contrarregulatorios mechanisms in glucose homeostasis. CCs initiate counter-regulatory responses to hypoglycemia involving the pituitary, adrenal, pancreas and the sympathetic system.

Correlation between theoretical anatomical patterns of lymphatic drainage and lymphoscintigraphy findings during sentinel node detection in head and neck melanomas.

PURPOSE: In the diagnosis of head and neck melanoma, lymphatic drainage is complex and highly variable. As regional lymph node metastasis is one of the most important prognostic factors, lymphoscintigraphy can help map individual drainage patterns. The aim of this study was to compare the results of lymphoscintigraphy and sentinel lymph node (SLN) detection with theoretical anatomical patterns of lymphatic drainage based on the location of the primary tumour lesion in patients with head and neck melanoma. We also determined the percentage of discrepancies between our lymphoscintigraphy and the theoretical location of nodal drainage predicted by a large lymphoscintigraphic database, in order to explain recurrence and false-negative SLN biopsies. METHODS: In this retrospective study of 152 patients with head and neck melanoma, the locations of the SLNs on lymphoscintigraphy and detected intraoperatively were compared with the lymphatic drainage predicted by on-line software based on a large melanoma database. RESULTS: All patients showed lymphatic drainage and in all patients at least one SLN was identified by lymphoscintigraphy. Of the 152 patients, 4 had a primary lesion in areas that were not described in the Sydney Melanoma Unit database, so agreement could only be evaluated in 148 patients. Agreement between lymphoscintigraphic findings and the theoretical lymphatic drainage predicted by the software was completely concordant in 119 of the 148 patients (80.4 %, 95 % CI 73.3 - 86 %). However, this concordance was partial (some concordant nodes and others not) in 18 patients (12.2 %, 95 % CI 7.8 - 18.4 %). Discordance was complete in 11 patients (7.4 %, 95 % CI 4.2 - 12.8 %). CONCLUSION: In melanoma of the head and neck there is a high correlation between lymphatic drainage found by lymphoscintigraphy and the predicted drainage pattern and basins provided by a large reference database. Due to unpredictable drainage, preoperative lymphoscintigraphy is essential to accurately detect the SLNs in head and neck melanoma.

Does the Capsule Interfere with Performance of Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry for Identification of Cryptococcus neoformans and Cryptococcus gattii?

We described the impact of the capsule size for Cryptococcus neoformans and Cryptococcus gattii identification at the species level by Bruker matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS). After experimental capsule size modulation, we observed that reducing the capsule size resulted in improved identification by Bruker MALDI-TOF MS across all of the reference strains analyzed.

Matrix-assisted laser desorption ionization-time of flight mass spectrometry for differentiation of the dimorphic fungal species Paracoccidioides brasiliensis and Paracoccidioides lutzii.

Isolates of Paracoccidioides brasiliensis and Paracoccidioides lutzii, previously characterized by molecular techniques, were identified for the first time by matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS). All isolates were correctly identified, with log score values of >2.0. Thus, MALDI-TOF MS is a new tool for differentiating species of the genus Paracoccidioides.

Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series.

Epilepsy affects approximately 3% of the world's population, and sudden death is a significant cause of death in this population. Sudden unexpected death in epilepsy (SUDEP) accounts for up to 17% of all these cases, which increases the rate of sudden death by 24-fold as compared to the general population. The underlying mechanisms are still not elucidated, but recent studies suggest the possibility that a common genetic channelopathy might contribute to both epilepsy and cardiac disease to increase the incidence of death via a lethal cardiac arrhythmia. We performed genetic testing in a large cohort of individuals with epilepsy and cardiac conduction disorders in order to identify genetic mutations that could play a role in the mechanism of sudden death. Putative pathogenic disease-causing mutations in genes encoding cardiac ion channel were detected in 24% of unrelated individuals with epilepsy. Segregation analysis through genetic screening of the available family members and functional studies are crucial tasks to understand and to prove the possible pathogenicity of the variant, but in our cohort, only two families were available. Despite further research should be performed to clarify the mechanism of coexistence of both clinical conditions, genetic analysis, applied also in post-mortem setting, could be very useful to identify genetic factors that predispose epileptic patients to sudden death, helping to prevent sudden death in patients with epilepsy.

Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

The heritable cardiovascular disorder long QT syndrome (LQTS), characterized by prolongation of the QT interval on electrocardiogram, carries a high risk of sudden cardiac death. We sought to add new data to the existing knowledge of genetic mutations contributing to LQTS to both expand our understanding of its genetic basis and assess the value of genetic testing in clinical decision-making. Direct sequencing of the five major contributing genes, KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2, was performed in a cohort of 115 non-related LQTS patients. Pathogenicity of the variants was analyzed using family segregation, allele frequency from public databases, conservation analysis, and Condel and Provean in silico predictors. Phenotype-genotype correlations were analyzed statistically. Sequencing identified 36 previously described and 18 novel mutations. In 51.3% of the index cases, mutations were found, mostly in KCNQ1, KCNH2, and SCN5A; 5.2% of cases had multiple mutations. Pathogenicity analysis revealed 39 mutations as likely pathogenic, 12 as VUS, and 3 as non-pathogenic. Clinical analysis revealed that 75.6% of patients with QTc≥500 ms were genetically confirmed. Our results support the use of genetic testing of KCNQ1, KCNH2, and SCN5A as part of the diagnosis of LQTS and to help identify relatives at risk of SCD. Further, the genetic tools appear more valuable as disease severity increases. However, the identification of genetic variations in the clinical investigation of single patients using bioinformatic tools can produce erroneous conclusions regarding pathogenicity. Therefore segregation studies are key to determining causality.

Serological diagnosis of paracoccidioidomycosis: high rate of inter-laboratorial variability among medical mycology reference centers.

BACKGROUND: Serological tests have long been established as rapid, simple and inexpensive tools for the diagnosis and follow-up of PCM. However, different protocols and antigen preparations are used and the few attempts to standardize the routine serological methods have not succeeded. METHODOLOGY/PRINCIPAL FINDINGS: We compared the performance of six Brazilian reference centers for serological diagnosis of PCM. Each center provided 30 sera of PCM patients, with positive high, intermediate and low titers, which were defined as the "reference" titers. Each center then applied its own antigen preparation and serological routine test, either semiquantitative double immunodifusion or counterimmmunoelectrophoresis, in the 150 sera from the other five centers blindly as regard to the "reference" titers. Titers were transformed into scores: 0 (negative), 1 (healing titers), 2 (active disease, low titers) and 3 (active disease, high titers) according to each center's criteria. Major discordances were considered between scores indicating active disease and scores indicating negative or healing titers; such discordance when associated with proper clinical and other laboratorial data, may correspond to different approaches to the patient's treatment. Surprisingly, all centers exhibited a high rate of "major" discordances with a mean of 31 (20%) discordant scores. Alternatively, when the scores given by one center to their own sera were compared with the scores given to their sera by the remaining five other centers, a high rate of major discordances was also found, with a mean number of 14.8 sera in 30 presenting a discordance with at least one other center. The data also suggest that centers that used CIE and pool of isolates for antigen preparation performed better. CONCLUSION: There are inconsistencies among the laboratories that are strong enough to result in conflicting information regarding the patients' treatment. Renewed efforts should be promoted to improve standardization of the serological diagnosis of PCM.

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.

We report on a young woman admitted to our Cardiology Unit because of an episode of cardiac arrest related to a long-QT syndrome (LQTS). This manifestation was part of a broader phenotype, which was recognized as a mild form of Beckwith-Wiedemann syndrome (BWS). Molecular analysis confirmed the diagnosis of BWS owing to a maternally inherited deletion of the centromeric imprinting center, or ICR2, an extremely rare genetic mechanism in BWS. The deletion interval (198 kb) also included exons 11-16 of the KCNQ1 gene, known to be responsible for LQTS at locus LQT1. No concomitant mutations were found in any other of the known LQT genes. The proposita's mother carries the same deletion in her paternal chromosome and shows manifestations of the Silver-Russell syndrome (SRS). This report describes the smallest BWS-causing ICR2 deletion and provides the first evidence that a paternal deletion of ICR2 leads to a SRS-like phenotype. In addition, our observation strongly suggests that in cases of LQTS due to mutation of the KCNQ1 gene (LQT1), an accurate clinical genetic evaluation should be done in order to program the most appropriate genetic tests.