Epilepsias generalizadas idiopáticas / Idiopathic generalized epilepsies

Resumen Las epilepsias generalizadas idiopáticas (EGI) son un grupo de epilepsias generalizadas edad de pendientes, subgrupo de las Epilepsias genéticas generalizadas(EGG), con hallazgos electro-clínicos característicos y herencia poligénica. Las EGI inclu yen las cuatro epilepsias generalizadas clásicas más comunes de las EGG: la epilepsia de ausencias de la infancia (EAI), epilepsia de ausencias juveniles (EAJ), epilepsia mioclónica juvenil (EMJ) y la epilepsia con crisis tónico clónicas generalizadas. Clínicamente caracterizadas por la presencia de una o una com binación de crisis de ausencias, mioclonías, tónica-clónicas omioclónica-tónica-clónicas con patrón elec troencefalográfico de punta onda lenta de 2.5 a 6cps y activación con la hiperventilación y fotoestimula ción, Sobresalen de las EGG por compartir atributos particulares como el buen pronóstico con control frecuente de las crisis, la no evolución a encefalopa tías epilépticas, frecuente superposición clínica entre las tres primeras, pudiendo evolucionar entre ellas; la probabilidad y edad de remisión varía en cada una.Más del 80% se controlan adecuadamente con medicamentos anticrisis de amplio espectro como el ácido valproico y pueden empeorar con bloqueadores de sodio o gabaérgicos. Si bien los pacientes son previamente sanos con neurodesarrollo normal, frecuentemente se asocian con trastornos del ánimo, déficit de atención e hiperactividad (TDAH) y problemas del aprendizaje pero no presentan déficit cognitivo. El reconocimiento de este grupo de EGI es importan te para el uso adecuado del recurso, evitando estudios innecesarios, adecuada orientación del pronóstico y un tratamiento óptimo.

Abstract Idiopathic generalized epilepsies (IGE) is a group of epilepsies age-dependent, a subgroup of EGG genetic generalized epilepsies, with electro-clinical features and polygenic inheritance. Four syndromes comprising the IGEs: childhood absence epilepsy (CAD), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and generalized tonic-clonic seizures epilepsy. Clinically characterized by the presence of one or a combination of absence seizures, myoclonus, tonic-clonic, or myoclonic-tonic-clonic with common electroencephalographic pat terns of 2.5-5.5 Hz generalized spike-wave and activated by hyperventilation or photic stimulation. They generally have a good prognosis for seizure control, not evolve to an epileptic encephalopathy. Frequent clinical overlap between the first three, being able to evolve between them; the probability and age of remission varies in each one. About 80% responding to broad-spectrum anti-seizure drugs such as valproic acid, may worsen with sodium or GABAergic blockers. Development is typically normal; however, they are frequently associated with mood disorders, attention-deficit/hyperactivity disorder (ADHD), and learning dis abilities, but do not have cognitive deficits. The recognition of this group of EGI is important for the adequate use of the resources, avoiding unnecessary studies, adequate orientation of the prognosis and an optimal treatment.

Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis / 亚洲男科学杂志(英文版)

Congenital bilateral absence of the vas deferens (CBAVD) is observed in 1%-2% of males presenting with infertility and is clearly associated with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. CFTR is one of the most well-known genes related to male fertility. The frequency of CFTR mutations or impaired CFTR expression is increased in men with nonobstructive azoospermia (NOA). CFTR mutations are highly polymorphic and have established ethnic specificity. Compared with F508Del in Caucasians, the p.G970D mutation is reported to be the most frequent CFTR mutation in Chinese patients with cystic fibrosis. However, whether p.G970D participates in male infertility remains unknown. Herein, a loss-of-function CFTR p.G970D missense mutation was identified in a patient with CBAVD and NOA. Subsequent retrospective analysis of 122 Chinese patients with CBAVD showed that the mutation is a common pathogenic mutation (4.1%, 5/122), excluding polymorphic sites. Furthermore, we generated model cell lines derived from mouse testes harboring the homozygous Cftr p.G965D mutation equivalent to the CFTR variant in patients. The Cftr p.G965D mutation may be lethal in spermatogonial stem cells and spermatogonia and affect the proliferation of spermatocytes and Sertoli cells. In spermatocyte GC-2(spd)ts (GC2) Cftr p.G965D cells, RNA splicing variants were detected and CFTR expression decreased, which may contribute to the phenotypes associated with impaired spermatogenesis. Thus, this study indicated that the CFTR p.G970D missense mutation might be a pathogenic mutation for CBAVD in Chinese males and associated with impaired spermatogenesis by affecting the proliferation of germ cells.

Clinical features and microsurgical reconstruction of congenital unilateral absence of the vas deferens with obstructive azoospermia: a tertiary care center experience / 亚洲男科学杂志(英文版)

Patients with congenital unilateral absence of the vas deferens (CUAVD) manifest diverse symptoms from normospermia to azoospermia. Treatment for CUAVD patients with obstructive azoospermia (OA) is complicated, and there is a lack of relevant reports. In this study, we describe the clinical features and evaluate the treatments and outcomes of CUAVD patients with OA. From December 2015 to December 2020, 33 patients were diagnosed as CUAVD with OA in Shanghai General Hospital (Shanghai, China). Patient information, ultrasound findings, semen analysis, hormone profiles, and treatment information were collected, and the clinical outcomes were evaluated. Of 33 patients, 29 patients were retrospectively analyzed. Vasoepididymostomy (VE) or cross VE was performed in 12 patients, the patency rate was 41.7% (5/12), and natural pregnancy was achieved in one of the patients. The other 17 patients underwent testicular sperm extraction as the distal vas deferens (contralateral side) was obstructed. These findings showed that VE or cross VE remains an alternative treatment for CUAVD patients with OA, even with a relatively low rate of patency and natural pregnancy.

Analysis of congenital deciduous teeth absence and its permanent teeth phenotype / 华西口腔医学杂志

OBJECTIVES@#This study aimed to investigate the clinical characteristics of congenital deciduous teeth absence and its permanent teeth performance type by using panoramic radiographs.@*METHODS@#A total of 15 749 panora-mic radiographs of 3-6-year-old children with deciduous dentition were collected from January 2020 to December 2021. The incidence of congenital deciduous teeth absence was observed, and the abnormality of permanent teeth was recor-ded. SPSS 24.0 software was used for statistical analysis.@*RESULTS@#The incidence of congenital deciduous teeth absence was 2.54% (400/15 749), which was found in 217 girls and 183 boys, and the difference between the genders was statistically significant (P=0.003). The absence of one and two deciduous teeth accounted for 99.75% (399/400) of the subjects. In addition, 92.63% (490/529) of mandibular deciduous lateral incisor was congenitally absent, 44.80% (237/529) of deciduous teeth was absent in the left jaw, and less than 55.20% (292/529) was absent in the right; the difference between them was statistically significant (P=0.017). The absence of 96.41% (510/529) deciduous teeth in the mandibular was significantly more than that of 3.59% (19/529) in the maxillary, and the difference between was statistically significant (P=0.000). Furthermore, 68.00% (272/400) and 32.00% (128/400) of deciduous teeth were absent in unilateral and bilateral, respectively, and the difference was statistically significant (P=0.000). Four types of congenital deciduous teeth absence with permanent teeth were observed as follows: 1) 73.91% (391/529) of permanent teeth was absent; 2) 20.60% (109/529) of permanent teeth was not absent; 3) the number of fused permanent teeth accounted for 4.91% (26/529); 4) the number of supernumerary teeth was 0.57% (3/529).@*CONCLUSIONS@#Although the absence of congenital deciduous teeth is less common than that of permanent teeth, it affects deciduous and permanent teeth to some extent. Dentists should pay attention to trace and observe whether abnormalities are present in the permanent teeth and take timely measures to maintain children's oral health.

A comparative study of multiple resting state functional magnetic resonance imaging indices to detect epileptic activity in childhood absence epilepsy / 中华神经科杂志

Objective:To comprehensively evaluate the ability of common resting state functional magnetic resonance imaging (rs-fMRI) indices to detect abnormal brain activity in childhood absence epilepsy (CAE).Methods:Simultaneous electroencephalography-functional magnetic resonance imaging (fMRI) data of 20 patients with CAE who were treated in the Jinling Hospital, Nanjing University School of Medicine from February 2010 to September 2021 were retrospectively collected. After excluding 2 patients with CAE with greater head movement, 44 fMRI data containing discharges from 18 patients were obtained finally. The generalized spike and slow-wave discharges (GSWD) related fMRI activation mappings were obtained by using the generalized linear model. At the same time, 94 age- and sex-matched healthy controls underwent rs-fMRI scanning. Meanwhile, 12 indices of rs-fMRI were calculated respectively [amplitude of low frequency fluctuation (ALFF), fractional amplitude of low frequency fluctuation (fALFF), regional homogeneity (ReHo), functional connectivity density (FCD), long FCD, local FCD, granger causality density (GCD)-in, GCD-out, GCD-int, resting state functional magnetic resonance imaging lag analysis (RSLA), Hurst index and brain entropy]. Two-sample t-tests were employed to detect significant differences in 12 indices of rs-fMRI. The Dice coefficient was used to evaluate the overlap between different brain maps of 12 indices of rs-fMRI and the GSWD-related blood oxygenation level dependent (BOLD) activation. Results:Positive activation of GSWD-related BOLD in CAE was mainly in the bilateral thalamus, and negative activation was mainly in default mode network (DMN) related brain regions. There was a significant overlap between the abnormal brain regions detected by various resting-state indicators: compared with normal controls, ALFF, fALFF, ReHo, GCD-in, GCD-out and local FCD were elevated in the bilateral thalamus, while FCD, long FCD, GCD-int and RSLA were decreased in CAE; ALFF, fALFF, ReHo, local FCD, GCD-out, RSLA and brain entropy were decreased in the DMN, while FCD, long FCD, GCD-in and GCD-int were increased in CAE. The Dice coefficient of long FCD was the highest (0.365),FCD was 0.362, while the Hurst index showed the lowest (0.142).Conclusions:Rs-fMRI indices variously revealed abnormal brain activity in CAE, in which the FCD is better for detection of epileptic activity. Rs-fMRI could be helpful to understand the pathophysiological mechanism of CAE, and to find reliable imaging markers.

Sick Leave in Colombia in the 2016-2018 period: A Retrospective Cross-Sectional Observational Study / Licencia por enfermedad en Colombia en el período 2016-2018: Estudio observacional transversal retrospectivo

Introduction: To understand the sick leave situation and the causes and effects of a temporary loss of capacity to work allows for the strengthening of policies and management in the provision of health services. Objective: To analyze sick leave in Colombia in the 2016-2018 period. Materials and methods: A retrospective cross-sectional observational study and the relative risk was calculated. Sick leave reports were provided by the Ministry of Health and Social Protection. 12,410,837 reports from formal workers between the ages of 18-70 years and had at least one temporary disability were processed. Results: The average age of people with sick leave was 37.11 years, 53% corresponding to females. On average, sick leave was 90.6% and 5.6% for dependent and independent workers, respectively. The principal causes of disability were musculoskeletal diseases and were more likely in men and adults according to RR. Men in comparison to females and adults in comparison to youths are less likely to have sick leave due to respiratory disease. Conclusions: In Colombia, females presented more temporary sick leave, even if males had more days of disability, even though the median was three days in both genders. Youth and adults had more sick leave days.

Introducción: Comprender la situación de incapacidad por enfermedad, causas y efectos de una pérdida temporal de la capacidad de trabajo fortalece las políticas y la gestión en la prestación de servicios de salud. Objetivo: Analizar las incapacidades por enfermedad en Colombia en el período 2016-2018. Materiales y métodos: Estudio observacional transversal retrospectivo, con cálculo del riesgo relativo. Se procesaron 12.410.837 registros de trabajadores formales entre 18 y 70 años de edad y con al menos una incapacidad temporal, según los informes del Ministerio de Salud y Protección Social. Resultados: La edad promedio de las personas fue de 37,11 años, 53% fueron mujeres. En promedio, el 90,6% de las incapacidades fue para trabajadores dependientes y el 5,6% trabajadores independientes. Las principales causas de incapacidad fueron las enfermedades del sistema musculoesquelético más frecuentes en hombres adultos según RR. Los hombres en comparación con las mujeres y los adultos en comparación con los jóvenes tienen menos probabilidades de tener licencia por enfermedad respiratoria. Conclusiones: Las mujeres presentaron más incapacidades temporales por enfermedad, aunque los hombres tuvieron más días de incapacidad, la mediana fue de tres días en ambos géneros. Los jóvenes y los adultos tenían más días de baja por enfermedad.

Riesgos ergonómicos y sus efectos sobre la salud en el personal de Enfermería

RESUMEN Introducción: El trabajo en instituciones hospitalarias de varios países es realizado en condiciones laborales inadecuadas. En el caso de las ergonómicas esta situación acarrea enfermedades en los trabajadores, como son las lesiones osteomusculares, con su consiguiente ausentismo por licencias médicas. Objetivo: Describir la ocurrencia de lesiones osteomusculares y de ausentismo-enfermedad y las condiciones laborales que ocasionó la solicitud de licencias prolongadas en el personal de salud. Método: Se realizó un estudio observacional, descriptivo, de corte transversal en 23 profesionales de Enfermería con licencia de larga duración, de una institución pública en la Ciudad Autónoma de Buenos Aires, Argentina, en el periodo septiembre-octubre de 2021. Se utilizó el Cuestionario Nórdico Estandarizado y el Cuestionario de Situación Ergonómica del Ambiente de Trabajo. Fueron analizadas las variables: condiciones del entorno laboral, riesgos ergonómicos y riesgos laborales, síntomas osteomusculares, ausentismo, postura corporal según posición de columna vertebral y brazos. Resultados: El 60,9 % de los encuestados perteneció al sexo femenino. La edad promedio fue de 35,9 años, moda de 39 y la desviación estándar de 9,2 años. Prevalecieron las lesiones en espalda alta y baja, cuello y ambos hombros. En cuanto a la satisfacción respecto a la postura corporal adoptada y las condiciones ergonómicas del mobiliario, el 73,9 % refirió que era poco satisfactorio. Conclusiones: Los riesgos ergonómicos que influyen en el personal de Enfermería de esta institución ocasionan daños físicos y mentales al personal debido a la sobrecarga del aparato músculo-esquelético y la función cognitiva que tienen que desempeñar para realizar sus actividades diarias.

ABSTRACT Introduction: Works in hospital institutions in several countries is performed under inadequate working conditions. Concerning the ergonomic risk, this situation leads to illnesses in workers, such as musculoskeletal injuries, causing absenteeism in workers due to medical exemption certificates. Objective: To describe the arising musculoskeletal injuries and absenteeism-illness, also the working conditions that caused on the health personnel request for extended medical exemption certificates. Method: An observational, descriptive, and cross-sectional study was carried out, during the period September throughout October 2021, on 23 nursing professionals with extended medical exemption certificates, all of them associated to a public institution at the Autonomous City of Buenos Aires, Argentina. The Standardized Nordic Questionnaire and the Questionnaire of Ergonomic Situation for working environment were used. The following variables were analyzed: working environment conditions, ergonomic risks and occupational hazards, musculoskeletal symptoms, absenteeism, body posture according to the spine and arms position. Results: The 60.9% of personnel surveyed were female. The mean age was 35.9 years, mode ≈39 and standard deviation 9.2 years. Injuries at the upper and lower back, neck and both shoulders prevailed. Concerning satisfaction on the ergonomic conditions of the furniture and the adopted body posture, 73.9% reported that it was not very satisfactory. Conclusions: The ergonomic risks that impact the nursing staff at this institution cause physical and mental damage due to the overload of the musculoskeletal apparatus and the cognitive function they have to perform in order to carry out their daily activities.

RESUMO Introdução: O trabalho em instituições hospitalares em vários países é realizado em condições inadequadas de trabalho. No caso da ergonomia, essa situação leva a doenças nos trabalhadores, como lesões musculoesqueléticas, com consequente absenteísmo por licença médica. Objetivo: Descrever a ocorrência de lesões musculoesqueléticas e absenteísmo-doença e as condições de trabalho que levaram ao pedido de afastamento prolongado do pessoal de saúde. Método: Estudo observacional, descritivo, transversal, realizado em 23 profissionais de Enfermagem com licença de longa duração, de uma instituição pública da Cidade Autônoma de Buenos Aires, Argentina, no período de setembro a outubro de 2021. O Questionário Nórdico Padronizado e o Questionário de Situação Ergonômica do Ambiente de Trabalho. As variáveis analisadas foram: condições do ambiente de trabalho, riscos ergonômicos e ocupacionais, sintomas osteomusculares, absenteísmo, postura corporal de acordo com a posição da coluna e dos braços. Resultados: 60,9% dos entrevistados eram do sexo feminino. A média de idade foi de 35,9 anos, a moda de 39 e o desvio padrão de 9,2 anos. Lesões na parte superior e inferior das costas, pescoço e ambos os ombros prevaleceram. Em relação à satisfação com a postura corporal adotada e as condições ergonômicas do mobiliário, 73,9% relataram que era insatisfatória. Conclusões: Os riscos ergonômicos que influenciam a equipe de Enfermagem desta instituição causam danos físicos e mentais à equipe devido à sobrecarga do aparelho musculoesquelético e da função cognitiva que têm que desempenhar para realizar suas atividades diárias.

Artrogriposis múltiple congénita. Caso clínico

RESUMEN La artrogriposis múltiple congénita es una enfermedad de baja frecuencia, esporádica, no progresiva, que aparece en el período prenatal y se caracteriza por varias contracturas articulares presentes al nacimiento en los cuatro miembros. Se estima una incidencia de 1/10 000 nacidos vivos. El diagnóstico es posible al realizar los ultrasonidos en un feto que tiene posiciones viciosas y que no se mueve. La prevalencia de la artrogriposis múltiple congénita es variable, resultando la más frecuente la artrogriposis múltiple clásica (amioplasia), presente entre el 40 y el 50 % de los afectados. La búsqueda ultrasonográfica en el tercer trimestre del embarazo es fundamental con fines diagnósticos, para brindar asesoramiento genético y preparar un equipo para el nacimiento. Es importante tener sospecha diagnóstica para sugerir la vía alta por cesárea, para bienestar fetal. Un grupo multidisciplinario debe llevar a cabo el manejo y tratamiento de estos enfermos. Se presenta el caso de un neonato nacido a las 39 semanas por parto eutócico prolongado por presentación de cara, con sufrimiento fetal agudo, meconio ++++, apgar 5-7, con peso de 3 300 g, que presentó luxación y contractura generalizada de hombros, codos, así como de caderas, rodillas y tobillos, con dedos de manos y pies en flexión.

ABSTRACT Congenital multiple arthrogryposis is a low-frequency, sporadic, non-progressive disease that appears in the prenatal period, and is characterized by several contractures present at birth in the four limbs. The estimated incidence is 1/10 000 born alive. The diagnosis is possible performing ultrasounds on a fetus that has vicious positions and does not move. The prevalence of congenital multiple arthrogryposis is variable, being classical multiple arthrogryposis (amyoplasia) the most frequent one, present in between 40 and 50 % of the affected persons. Ultrasonographic search in the third semester of pregnancy is essential for diagnostic purposes to provide genetic counseling and to prepare a ream for birth. It is important to have diagnostic suspicion to suggest the high cesarean way for fetal well-being. A multidisciplinary group should carry out the management and treatment of these patients. The case of a newborn is presented, who was born at 39 weeks by prolonged eutocic delivery due to presenting face, with acute fetal suffering, meconium ++++, apgar 5-7, weighing 3 300 g, that presented luxation and general contracture of shoulders, elbows, and also hips, knees and ankles, with fingers and toes in flexion.

Application of a metal occlusal surface and split framework in the treatment of a patient with mandibular distal extension absence and insufficient occlusogingival distance / 口腔疾病防治

Objective@# To investigate the effect of a metal occlusal surface and stress interruption design on minimally invasive prosthodontics for patients with distal extension absence and insufficient occlusal gingival distance.@*Methods @# We retrospectively studied the case of minimally invasive prosthodontic (Vitallium 2000) combined with a metal occlusal surface for distal extension absence in a patient with insufficient occlusal gingival distance; the stress breaking design and pressure impression technology are examined, and relevant articles are reviewd. @*Results@#The design effectively solves the problems of insufficient occlusal gingival distance, large occlusal force and easy denture fracture. Reviewing the relevant literature, stress interruption design can effectively protect abutment teeth, but the behavior of stress interruption design and stress conduction phenomena in the mouths of patients has not been reported. The T-scan test results of this study showed that before and after wearing the denture, the occlusal force distribution ratio of the patient changed from 77.5% on the left and 22.5% on the right to 61.3% on the left and 38.7% on the right. The occlusal force distribution ratio of the right dentition to the total occlusal force increased by 16.2%, and the occlusal force became better distributed. Further analysis showed that the occlusal forces on the left and right sides were nearly the same in the initial occlusion stage. As the occlusal force was further increased, the proportion of the occlusal force on the right side decreased in the middle of the occlusion stage and further decreased in the final occlusion stage until it reached a dynamic balance. The above T-scan test and literature review results suggest that this dynamic balance phenomenon of bite force is related to the stress interruption design and the stress conduction effect of the split framework.@* Conclusion @#The composite of stress interruption design and metal occlusal surface allows for minimally invasive prosthodontics for the treatment of distal extension absence in patients with insufficient occlusal gingival distance.

Agenesis of maxillary lateral incisors: diagnosis and treatment options

ABSTRACT Introduction: There are different possibilities of orthodontic planning for cases with congenital absence of maxillary lateral incisors. This subject divides the opinion of orthodontists and oral rehabilitation clinicians, due to the advantages and disadvantages of each treatment option, which may involve opening spaces for future implants and/or prosthetic restorations, or closing the spaces by positioning the maxillary canines in the place of lateral incisors. The correct diagnosis and careful evaluation of each patient allow to determine the best therapeutic approach. This paper discusses the main topics to be considered when planning these cases. Objectives: To evaluate the main aspects related to orthodontic treatment planning in cases of congenital absence of maxillary lateral incisors, to aid the decision-making, with clinical and scientific basis.

RESUMO Introdução: Existem diferentes possibilidades de planejamento ortodôntico para os casos que apresentam ausência congênita de incisivos laterais superiores. Esse é um assunto que divide a opinião de ortodontistas e reabilitadores orais, devido às vantagens e desvantagens de cada uma das opções de tratamento, as quais podem envolver a abertura de espaços para futuros implantes e/ou restaurações protéticas ou o fechamento dos espaços, com posicionamento dos caninos superiores no lugar dos incisivos laterais. O correto diagnóstico e uma criteriosa avaliação de cada paciente permitem determinar a melhor abordagem terapêutica. Nesse artigo, serão discutidos os principais tópicos a serem considerados no planejamento desses casos. Objetivos: Avaliar os principais aspectos relacionados ao planejamento do tratamento ortodôntico nos casos de ausência congênita de incisivos laterais superiores, de maneira a auxiliar nas tomadas de decisão, com embasamento clínico e científico.

Teste de Progresso: ausência de alunos de Medicina é sugestiva de mau desempenho acadêmico / Progress Test: medical student absenteeism is suggestive of poor academic performance

Resumo: Introdução: Não se sabe se a ausência de estudantes de Medicina ao Teste de Progresso (TP) se dá de forma aleatória ou por alguma característica sistemática deles, o que poderia influenciar a representatividade dos resultados obtidos pelos participantes. Objetivo: Este estudo teve como objetivos comparar os índices de desempenho acadêmico, no curso de Medicina da UFSC, dos alunos presentes e ausentes ao TP em 2019; propor uma maneira de estimar, a partir desses índices, quais seriam as notas dos faltantes se tivessem participado do TP; e identificar fatores associados à ausência ao TP. Método: Foram comparadas as médias dos índices de desempenho acadêmico, globais e nas diferentes fases (semestres) dos grupos de alunos presentes e ausentes ao TP, utilizando teste t de Student para amostras independentes. Por meio de uma técnica de regressão linear, foram imputadas as prováveis notas no TP ao grupo de alunos ausentes. Resultado: As médias globais dos três indicadores acadêmicos foram significativamente menores nos alunos ausentes ao TP (p variando de < 0,03 a < 0,0001); em dez das 11 fases (semestres) analisadas do curso, os indicadores acadêmicos dos faltosos foram piores do que dos presentes. A imputação de notas no TP aos ausentes permitiu verificar que existe correlação (R = 0,62) entre a porcentagem destes e a diferença de notas entre os grupos que realizaram e os que faltaram ao TP. Entre os alunos do gênero masculino, 25,8% não fizeram o TP, enquanto no gênero feminino foram 16,6% (diferença com p < 0,01). Conclusão: A ausência de alunos ao TP não se dá de forma aleatória. Entre os faltosos, há uma tendência sistemática de existirem alunos com piores índices de desempenho acadêmico. O uso de imputação múltipla de dados evidencia uma correlação entre a porcentagem de faltosos e a diferença na média da nota no TP, desse grupo, comparada à média da nota dos participantes. A proporção de homens que faltaram ao TP foi significativamente maior do que a de mulheres.

Abstract: Introduction: It is not known whether the absence of medical students at the Progress Test (PT) is random event or if it due to some systematic characteristic of the students, which could influence the representativeness of the results obtained by the participants. Objectives: 1) to compare the academic performance indexes, in UFSC Medical School, of students who were present and absent from the PT in 2019; 2) to propose a way to estimate, based on these indexes, what the absentee's grades would be if they had participated in the PT; 3) to identify factors associated with absence from the PT. Method: The averages of academic performance indexes, overall and in the different phases (semesters) in the groups of students who were present and absent from the PT, were compared using Student's t test for independent samples. Using a linear regression technique, the probable PT scores were assigned to the group of absent students. Results: The global averages of the three academic indicators were significantly lower in students absent from the PT (p ranging from < 0.03 to < 0.0001); in 10 of the 11 analyzed course phases (semesters), the academic indicators of absentees were worse than those present at the test. The attribution of PT grades to the absentees allowed us to verify that there is a correlation (R=0.62) between the percentage of these students and the difference in grades between the groups that took and those that did not take the PT. Among male students, 25.8% did not attend the PT, while among female students the number of absentees was 16.6% (difference with p <0.01). Conclusions: The absence of students at the PT does not occur randomly. Among the absentees, there is a systematic tendency to have students with worse academic performance. The use of multiple imputation of data demonstrate a correlation between the percentage of absentees and the difference in the average of grades in the PT of this group, compared to the average of the participants' grades. The proportion of male students who missed the PT was significantly higher than that of female students.

Healthcare professionals in COVID-19: safety, fear, and intention to leave / Profissionais de saúde na COVID-19: segurança, medo e intenção de se afastar / Profesionales de la salud en COVID-19: seguridad, miedo e intención de alejarse

The objective was to verify the fear of COVID-19 mediating role between the perception of safety at work and the intention of professionals on the frontline of COVID-19 to distance themselves from work. For this intent, 227 professionals (Mage = 33.01; SD = 7.67), mostly female (67.8%), answered the Safety Climate Scale in Hospital Work, the Intentional Behavior to Take a Leave of Absence Scale adapted to the COVID-19 context, the Fear of COVID-19 Scale, and a sociodemographic questionnaire. The safety perception in places of fight against the COVID-19 minimizes the fear of infection, consequently reducing health professionals' intention to take leaves of absence when in hospitals in the pandemic. Thus, ensuring the professionals' safety in their workplace is a protective factor of fear, so it may collaborate for the development of relevant strategies that minimize the intention to take a leave of absence.

O objetivo deste trabalho foi verificar o papel mediador do medo da COVID-19 na relação entre a percepção de segurança no trabalho e a intenção de profissionais atuantes no combate da COVID-19 de se afastarem do serviço. Para tanto, 227 profissionais (Midade = 33,01; DP = 7,67), maioria do gênero feminino (67,8%), responderam à Escala de Clima de Segurança no Trabalho Hospitalar, à Escala de Intenção Comportamental de Afastamento dos Serviços, adaptadas para o contexto da COVID-19, a Fear of COVID-19 Scale e a um questionário sociodemográfico. A percepção de segurança nos locais de combate à COVID-19 minimiza o medo da infecção, consequentemente diminuindo a intenção dos profissionais atuantes em hospitais na pandemia de se afastarem do serviço. Assim, assegurar segurança dos profissionais no local de trabalho é um fator protetivo do medo, que pode então colaborar para o desenvolvimento de estratégias pertinentes que minimizem a intenção de afastamento do trabalho.

El objetivo del presente trabajo fue verificar el papel mediador del miedo de la COVID-19 en la relación entre percepción de seguridad en el trabajo y la intención de apartarse de los servicios de profesionales actuantes en el combate el COVID-19. Por lo tanto, 227profesionales (Medad = 33.01 años; DE= 7.67), la mayoría mujeres (67.8%), respondieran la Escala de Clima de Seguridad en el Trabajo Hospitalario, la Escala de Intención Comportamental de Alejarse de los Servicios, adaptadas para el contexto de la COVID-19, Fear of COVID-19 Scale y cuestionario sociodemográfico. La percepción de seguridad en los lugares de combate al COVID-19 minimiza el miedo a la enfermedad, reduciendo en consecuencia la intención de alejarse de los profesionales de los hospitales durante la pandemia. Así, velar por la seguridad de los profesionales en el trabajo es un factor protector del miedo, por lo que es posible colaborar en el desarrollo de estrategias relevantes que minimicen la intención de alejarse del trabajo.

A Case of Partial Anomalous Pulmonary Venous Return in an Adult Patient / 日本心臓血管外科学会雑誌

Most cases of partial anomalous pulmonary venous return are associated with atrial septal defect. We however report a surgical case of partial anomalous pulmonary venous return that was diagnosed in an adult without atrial septal defect. The patient was a 44-year-old man who presented with hemoptysis. Computed tomography revealed an absent left pulmonary artery. We performed bronchial artery embolization. Partial anomalous pulmonary venous return (Qp/Qs 3.33) in which the right pulmonary vein returned to the superior vena cava and moderate aortic regurgitation were diagnosed by computed tomography and transthoracic echocardiography ; this was an indication for surgery. Approximately 2 months after the emergency hospitalization due to hemoptysis, we performed a modified Warden procedure and aortic valve replacement. Postoperative computed tomography showed good reconstruction of the superior vena cava and right upper pulmonary vein. He was discharged on postoperative day 38.

Sperm retrieval and intracytoplasmic sperm injection outcomes in men with cystic fibrosis disease versus congenital bilateral absence of the vas deferens / 亚洲男科学杂志(英文版)

Recent data suggest that cystic fibrosis transmembrane conductance regulator (CFTR) gene alterations negatively impact male fertility beyond obstruction. We sought to compare gene alterations, sperm retrieval rates, and intracytoplasmic sperm injection (ICSI) outcomes among men with cystic fibrosis (CF) disease and congenital bilateral absence of the vas deferens (CBAVD) only. We retrospectively evaluated all men who underwent surgical sperm retrieval at two academic, high-volume andrology centers from 2010 to 2018. Only men with documented CFTR alterations and obstructive azoospermia from either CBAVD or CF were included. Differences between groups for CFTR abnormality, sperm retrieval, and ICSI outcomes were statistically analyzed. Overall, 39 patients were included with 10 in the CF and 29 in the CBAVD groups. Surgical sperm retrieval rates were significantly lower in the CF group for sperm concentration (14.8 × 10

Redes Pessoais Significativas de mulheres responsáveis por famílias monoparentais em vulnerabilidade social / Significant Personal Networks of women responsible for monoparental families in social vulnerability / Redes Personales Significativas de mujeres responsables por familias monoparentales en vulnerabilidad social

Este estudo objetivou compreender a dinâmica das redes pessoais significativas para a maternidade em famílias monoparentais em situação de vulnerabilidade social. Participaram dez mulheres com filhos(as) crianças, responsáveis por famílias cadastradas em Centros de Referência de Assistência Social (CRAS) de um município do Rio Grande do Sul. Aplicou-se um Questionário Sociodemográfico, uma Entrevista semiestruturada e o Mapa de Redes. Os dados foram tratados conjuntamente a partir da análise de conteúdo. Constatou-se que familiares, amigos(as), vizinhos(as), "patrões"/"patroas"e profissionais/serviços conferem apoio à maternidade. Destacaram-se funções como: ajuda material, companhia social, apoio emocional, guia de conselhos e regulação social. Ampliar o conhecimento das redes pessoais significativas pode fomentar práticas profissionais que as incluam nas intervenções.

This study aimed to understand the dynamics of significant personal networks for motherhood in single parents in situations of social vulnerability. Ten women with children, responsible for families enrolled in Social Assistance Referral Centers (CRAS) of a municipality of Rio Grande do Sul, participated. A Sociodemographic Questionnaire, a semi-structured Interview and the Network Map were applied. The data were treated together from content analyze. It was found that family, friends, neighbors, "bosses"/"mistress"and professionals/services support motherhood. These included functions such as material help, social company, emotional support, advice and social regulation. Expanding knowledge of significant personal networks can foster professional practices that include them in interventions.

Este estúdio objetivó comprender la dinámica de las redes personales significativas para la maternidaden familias monoparentales en situación de vulnerabilidad social. Participaron diez mujeres con hijos(as) niños, responsables por familias registradas en Centros de Referencia de Asistencia Social (CRAS) de un condado de Rio Grande do Sul. Se aplico un Cuestionario Sociodemográfico, una Entrevista semiestructurada y el Mapa de Redes. Los datos fueron tratados en conjunto a partir del análisis de contenido. Se constato que familiares, amigos(as), vecinos(as), "patrones(as)" y profesionales/servicios proporcionaron apoyo a la maternidad. Se destacaron funciones como: ayuda material, compañía social, apoyo emocional, guía de consejos y regulación social. Ampliar el conocimiento de las redes personales significativas puede promover prácticas profesionales que las incluyan en las intervenciones.

A força da ausência. A falta dos homens e do "Estado" na vida de mulheres moradoras de favela / La fuerza de la ausencia. La falta de los hombres y del "Estado" en la vida de mujeres que viven en favelas / The strength of absence. The lack of men and "State" in the lives of women living in favelas

Resumo Com base no trabalho de campo realizado em um complexo de favelas do Rio de Janeiro, analiso as condições de precariedade produzidas por ausências ativas masculinas, quer seja exercida pelas administrações de Estado ou por ausências masculinas na vida de mães e mulheres pobres. A partir das discussões antropológicas sobre gênero e Estado, o campo destas ausências é analisado enquanto um conjunto de forças sistemáticas e cotidianas. Essas forças se revelam de diferentes formas: seja por não receber "ajuda nenhuma do pai da criança", por não conseguir "uma vaga na creche", por "ter que se virar" para cuidar dos filhos sozinha e por ter que lidar com a política de invasões, tiroteios e extermínio exercida nos territórios de favelas. A ausência ativa de Estado também se materializa na ação das casas destinadas a "tomar conta" de crianças e das creches públicas, espaços voltados ao atendimento das famílias pobres. Na tentativa de refletir sobre este campo múltiplo de "faltas", procuro relacionar de que modo estas ausências estão associadas a dinâmicas de "violência" que incidem sobre comportamentos femininos apontados como "nervosos", "agressivos" ou "negligentes".

Resumen A partir del trabajo de campo realizado en un complejo de favelas de Río de Janeiro, analizo las precarias condiciones que producen las ausencias activas masculinas, ya sean ejercidas por las administraciones estatales o por ausencias masculinas en la vida de madres y mujeres pobres. A partir de las discusiones antropológicas sobre género y Estado, se analiza el campo de estas ausencias como un conjunto de fuerzas sistemáticas y cotidianas. Estas fuerzas se manifiestan de diferentes formas: ya sea por no recibir "ninguna ayuda del padre del niño", por no poder "conseguir una plaza en la guardería", se por la política de invasiones, fusilamientos y exterminio ejercida en los territorios de favelas. La ausencia activa del Estado también se materializa en la acción de las casas para "cuidar" a los niños y en las guarderías públicas, espacios destinados a atender a las familias pobres. En un intento de reflexionar sobre este campo múltiple de "ausencias", trato de relatar cómo estas ausencias se asocian con dinámicas de "violencia", que afectan los comportamientos femeninos identificados como "nerviosos", "agresivos" o "negligentes".

Abstract Based on the fieldwork carried out in a complex of favelas in Rio de Janeiro, I analyze the precarious conditions produced by active male absences, whether exercised by state administrations or by male absences in the lives of poor mothers and women. Based on the anthropological discussions about gender and State, these absences are analyzed as a set of systematic and daily forces. These forces are revealed in different ways: be it for not receiving "any help from the child's father", for not obtaining "a place in the daycare center", for "hav ing to manage" to take care of the children alone and for having to deal with a State policy of invasions, shootings and extermination exercised in the favelas territories. The active absence of the State also materializes in the action of the houses that "take in" children and in public daycare centers, spaces aimed at serving poor families. To reflect on this multiple fields of "absences", they are associated with dynamics of "violence", which affect female behaviors identified as "nervous", "aggressive" or "negligent".

Flaps versus skin grafts in neovagina creation for vaginal agenesis

Background: Women with congenital uterovaginal agenesis have normal development of all secondary sexual characteristics. They face the cruel fact of being unable to bear children and enjoy sexual satisfaction. Good neo vaginal reconstruction is important in improving functional and psycho social impacts to womanhood. The aim of the study was to compare the three commonly done surgical procedures for vaginal reconstruction.Methods: All the vaginal agenesis patients who attended Department of plastic surgery Madras Medical College, Chennai during the period from August 2004 to April 2007 were included in our study.Results: In Abbe McIndoe procedure, graft take was full in all 7 cases with good cosmetic appearance. Flaps survived in all 10 patients underwent pudendal thigh flap surgery. 2 patients underwent horse shoe shaped labia minora flaps. The cosmetic appearance was fair because of the distortion of the labia. The mean vaginal depth obtained was 8 cm and width was 2 cm.Conclusions: Cosmetic appearance was good in patients who underwent McIndoe procedure as the genitalia were not distorted. Contracture rate was more in patients who underwent McIndoe procedure especially who were irregular in using stents. Flap procedure especially pudendal thigh flaps which has the least contraction rate is the preferable treatment option for such patients.

Pest potencial of Sitophilus zeamais on Brazil nut under storage conditions: Sitophilus zeamais on Brazil nut / Potencial de Sitophilus zeamais como praga da castanha-do-Brasil em condições de armazenamento

The Brazil nut, fruit of Bertholletia excelsa H.B.K., a native plant of the Amazon region and may be considered one of the main extractivist products of countries like Bolivia, Colombia, Guyana, Venezuela, Peru and Brazil. In Brazil this plant can be found in the states of Acre, Amapá, Amazonas, Mato Grosso, Pará, Rondônia, Roraima and Tocantins. Species of the Coleoptera and Lepidoptera, have been classified as pest potentials of Brazil nut under storage conditions. Sitophilus zeamais (Coleoptera: Curculionidae) is one of the main insect pests attacking grain stores worldwide. This specie may be observed attacking grains in the field and in storage facilities (cross-infestation), presenting a wide variety of hosts. The purpose of this study was to assess the potential of adults of this species feed on Brazil nuts, and also to identify the type of injury as well as the life span of this coleopteran exposed to the meat of the Brazil nut. No feeding injury was observed on the surface of Brazil nuts and the life span of the insects was similar in treatments both with and without this food source in all populations evaluated. Due to the fact that S. zeamais adults do not injure, or feed on the Brazil nut, this beetle is not able to colonize this product and therefore may be considered a non-pest insect for stored Bertholletia excelsa almonds stored.

A castanha-do-brasil, fruto da Bertholletia excelsa H.B.K., que é uma planta nativa da região Amazônica e esse fruto pode ser considerado um dos principais produtos extrativistas de países como Bolívia, Colômbia, Guiana, Venezuela, Peru e Brasil. No Brasil, essa planta pode ser encontrada nos estados do Acre, Amapá, Amazonas, Mato Grosso, Pará, Rondônia, Roraima e Tocantins. Espécies de Coleoptera e Lepidoptera foram classificadas como potenciais pragas da castanha-do-brasil em condições de armazenamento. Sitophilus zeamais (Coleoptera: Curculionidae) é uma das principais pragas de insetos que atacam os armazéns de grãos em todo o mundo. Esta espécie pode ser observada atacando grãos no campo e em unidades armazenadoras (infestação cruzada), apresentando uma grande variedade de hospedeiros. O objetivo deste estudo foi avaliar o potencial de adultos dessa espécie em se alimentarem de castanha-do-brasil, e também, identificar o tipo de lesão e o tempo de vida deste coleóptero exposto castanha-do-brasil. Não foi observada lesão na superfície da castanha-do-brasil e o tempo de vida dos insetos foram semelhantes nos tratamentos com e sem alimento em todas as populações avaliadas. Devido ao fato de que adultos de S. zeamaisnão lesionaram ou se alimentaram da castanha-do-brasil, este besouro não é capaz de colonizar este produto e, portanto, pode ser considerado um inseto não-praga para as amêndoas de Bertholletia excelsa armazenadas.

O Mapa de Ausências e Apagamentos em A Rua dos Crocodilos, de Bruno Schulz / The Map of Absences and Obliterations in Bruno Schulz's The Street Of Crocodiles / El Mapa de Ausencias y Eliminaciones en La Rua de Los Crocodilos, de Bruno Schulz

Este trabalho procura colocar em destaque, por meio da narrativa do escritor polonês Bruno Schulz, um operador possível para o enlace entre psicanálise e literatura: o texto (o romance literário ou uma vida narrada em análise) como resultante da impossibilidade de representar o real. A leitura de Schulz, guiada pela bússola da teoria psicanalítica de Freud e Lacan, permite com que se acentue o que chamamos de "mapa de ausências e apagamentos", elemento presente e transversalizador na compilação dos quinze contos que integram A rua dos Crocodilos. Esse mapa traça as linhas de um território no qual é possível realçar as reverberações do conceito de estranho de Freud e, com ele, refletir sobre os efeitos de leitura produzidos pela obra do escritor polonês. (AU)

This paper aims to highlight, trough the narrative of the polish writer Bruno Schulz, a possible operator for the link between psychoanalysis and literature: text (literary novel or a life narrated in analysis) as the result of the impossibility to represent real. The reading of Schulz with the guidelines from Freud's and Lacan's psychoanalytic theories let us examine what we have called "map of absences and obliterations" in the compilation of fifteen short stories The street of croocodiles. This map traces the lines of a territory in which is possible to highlight the reverberations of Freud's concept of strange, and enable us to reflect upon the effects of the reading Schulz's works. (AU)

El presente trabajo forma parte de una investigación más amplia, inspirada en la vida y obra de Bruno Schulz, que se propone pensar el proyecto artístico y literario del escritor norteamericano Jonathan Safran Foer, llamado Tree of codes (2010). En este artículo, partiendo de la obra de Schulz La calle de los cocodrilos, nos dedicamos a reflexionar sobre la relación entre el psicoanálisis y lo que denominamos "mapa de ausencias y eliminaciones", presente en esa compilación de 15 cuentos del escritor polaco. Esa relación nos permitirá establecer un operador posible para el enlace entre psicoanálisis y literatura: el texto (la novela literaria o una vida narrada en análisis) como resultante de la imposibilidad de representar lo real. (AU)

Aspectos genéticos moleculares del síndrome de trombocitopenia con ausencia de radios / Molecular genetic aspects of the thrombocytopenia syndrome with absent radii

Introducción: La trombocitopenia con ausencia de radios es un síndrome genético poco frecuente. Se caracteriza por la ausencia bilateral de radios con presencia de ambos pulgares y trombocitopenia. Pueden estar presentes, además, malformaciones en miembros inferiores, cardiovasculares, gastrointestinales, neurológicas y vasculares. Objetivo: Analizar los aspectos genéticos moleculares más recientes del síndrome de trombocitopenia. Métodos: Se realizó una revisión de la literatura en inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico, de artículos publicados en los últimos 10 años. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: El patrón de herencia de la enfermedad es autosómico recesivo, un heterocigótico compuesto por un alelo nulo del gen RBM8A, localizado en el locus 1q21.1 y la presencia de un polimorfismo de simple nucleótido en regiones no codificantes en el otro alelo. Este gen codifica la proteína Y14, la cual es uno de los cuatro componentes del complejo de unión de exones, complejo multiproteico que se une al ARNm y que, una vez finalizado el empalme, interviene en la eficiencia de la traducción y la degradación del ARNm que presenten codones de terminación prematura. Conclusiones: La trombocitopenia es la primera enfermedad en el humano en la que se describe un defecto en una subunidad del complejo de unión de exones. A pesar del avance en los últimos años en el conocimiento de las bases moleculares de la enfermedad, aún son necesarias nuevas investigaciones para explicar la relación entre el gen RBM8 y las manifestaciones esqueléticas(AU)

Introduction: Thrombocytopenia with absent radii is a rare genetic syndrome, characterized by bilateral absence of the radii with the presence of both thumbs and thrombocytopenia. In addition, malformations may be present, involving the lower limbs, as well as the cardiovascular, gastrointestinal, neurological, and vascular systems. Objective: To analyze the most recent molecular genetic aspects of thrombocytopenia syndrome. Methods: A review of the literature in English and in Spanish was carried out, in the PubMed website and using the search engine of Google Scholar, for articles published in the last ten years. We performed analysis and summary of the reviewed bibliography. Information analysis and synthesis: The disease has an autosomal recessive inheritance pattern, a heterozygote composed of a null allele of the RBM8A gene, located at the 1q21.1 locus and the presence of a single nucleotide polymorphism in non-coding regions in the other allele. This gene encodes the Y14 protein, which is one of the four components of the exon-binding complex, a multiprotein complex that binds to mRNA and that, once splicing is complete, intervenes in the efficiency of translation and degradation of mRNA that have premature termination condons. Conclusions: Thrombocytopenia is the first disease in humans in which a defect in a subunit of the exon binding complex was described. Despite the advance in recent years in understanding the molecular basis of the disease, new research is still necessary to explain the relationship between the RBM8 gene and skeletal manifestations(AU)