SUMMARY OBJECTIVE: The aim of this study was to evaluate the effects of obstetric simulation training on undergraduate medical students to improve their self-confidence. METHODS: Fifth-year undergraduate medical students were invited to a 2-week course of simulation in obstetrics during their clerkship. The sessions included were as follows: (1) care for the second and third periods of childbirth, (2) partograph analysis and pelvimetry, (3) premature rupture of membranes at term, and (4) diagnosis and management of third-trimester bleeding. Before the first session and at the end of the training period, a questionnaire about self-confidence in obstetric procedures and skills was applied. RESULTS: A total of 115 medical students were included, of whom 60 (52.2%) were male and 55 (47.8%) were female. Comparing initial and final scores, the median results of the subscales “comprehension and preparation” (18 vs. 22, p<0.001), “knowledge of procedures” (14 vs. 20, p<0.001), and “expectation” (22 vs. 23, p<0.01) were significantly higher at the end of the training period in all items of the questionnaire than in the beginning. Differences were found based on the students’ gender, i.e., female students had a significantly higher sum of scores than the male students in the initial subscale for “expectation” (median, 24 vs. 22, p<0.001) and “interest” (median, 23 vs. 21, p=0.032), and a higher sum of scores in the subscale for “expectation” (median, 23 vs. 21, p=0.010) in the final questionnaire. CONCLUSION: Obstetric simulation enhances the improvement of students’ self-confidence in understanding both the physiology of childbirth and the obstetric care procedures. Further studies are needed to understand the influence of gender on obstetric care. OBJECTIVE selfconfidence. selfconfidence self confidence. confidence METHODS Fifthyear Fifth year 2week week 2 clerkship follows 1 (1 (2 pelvimetry 3 (3 term 4 (4 thirdtrimester trimester bleeding applied RESULTS 11 6 52.2% 522 52 (52.2% 5 47.8% 478 47 8 (47.8% comprehension preparation 18 vs 22 p<0.001, p0001 p p<0.001 , 0 001 knowledge 14 20 expectation “expectation p<0.01 p001 01 beginning ie i e i.e. median, (median interest “interest 21 p=0.032, p0032 p=0.032 032 p=0.032) p=0.010 p0010 010 CONCLUSION ( 52.2 (52.2 47.8 (47.8 p000 p<0.00 00 p<0.0 p00 i.e p003 p=0.03 03 p=0.01 52. (52. 47. (47. p<0. p0 p=0.0 (52 (47 p<0 p=0. (5 p< p=0 p=

BACKGROUND Severe acute respiratory syndrome coronavirus (SARS-CoV-2) omicron variant was first detected in South Africa in November 2021. Since then, the number of cases due to this variant increases enormously every day in different parts of the world. Mutations within omicron genome may impair the molecular detection resulting in false negative results during Coronavirus disease 19 (COVID-19) diagnosis. OBJECTIVES To verify if colorimetric reverse transcription loop-mediated isothermal amplification (RT-LAMP) targeting N and E genes would work efficiently to detect omicron SARS-CoV-2 variant and its sub-lineages. METHODS SARS-CoV-2 reverse transcription quantitative polymerase chain reaction (RT-qPCR) positive samples were sequenced by next generation DNA sequencing. The consensus sequences generated were submitted to Pangolin tool for SARS-CoV-2 lineage identification. RT-LAMP reactions were performed at 65ºC/30 min targeting N and E. FINDINGS SARS-CoV-2 omicron can be detected by RT-LAMP targeting N and E genes despite the genomic mutation of this more transmissible lineage. Omicron SARS-CoV-2 sub-lineages were tested and efficiently detected by RT-LAMP. We demonstrated that this test is very sensitive in detecting omicron variant, with LoD as low as 0.4 copies/µL. MAIN CONCLUSIONS Molecular detection of omicron SARS-CoV-2 variant and its sub-lineages can be achieved by RT-LAMP despite the genomic mutations as a very sensitive surveillance tool for COVID-19 molecular diagnosis.

Resumen Marco contextual: Corresponde a los profesionales de la salud capacitar a los cuidadores informales para que presten atención domiciliaria y, en este contexto, es importante evaluar las competencias del cuidador. Objetivo: Evaluar las propiedades psicométricas de un cuestionario para evaluar las competencias del cuidador informal. Metodología: Estudio metodológico, con la participación de 216 cuidadores informales de una ciudad de la región sur de Brasil. La validez estructural del constructo se estimó mediante un análisis factorial exploratorio y confirmatorio, y se verificó la consistencia interna del cuestionario para comprobar su fiabilidad. Resultados: El análisis factorial exploratorio mostró cuatro factores en este estudio, correspondientes a la competencia psicomotora (factor 1), cognitiva (factor 2), emocional (factor 3) y relacional (factor 4). El análisis factorial confirmatorio reveló resultados satisfactorios para todos los índices de ajuste y la consistencia interna mostró un valor de α = 0,82. Conclusión: El cuestionario muestra fiabilidad y validez, y puede utilizarse para evaluar las competencias del cuidador informal en el ámbito doméstico.

Resumo Enquadramento: Cabe aos profissionais de saúde realizar a capacitação do cuidador informal para executar a assistência domiciliária, e, nesse contexto, é importante avaliar as competências do cuidador. Objetivo: Avaliar as propriedades psicométricas de um questionário de avaliação das competências do cuidador informal. Metodologia: Estudo metodológico, com a participação de 216 cuidadores informais de um município da região sul do Brasil. Estimou-se a validade estrutural de construto por meio de análise fatorial exploratória e confirmatória, para a confiabilidade verificou-se a consistência interna do questionário. Resultados: A análise fatorial exploratória apresentou quatro fatores nesse estudo, que correspondem às competências psicomotora (Fator 1), cognitiva (Fator 2), emocional (Fator 3) e Relacional (fator 4). A análise fatorial confirmatória revelou resultados satisfatórios para todos os índices de ajustamento, e a consistência interna apresentou valor de α = 0,82. Conclusão: O questionário apresenta evidências de confiabilidade e validade e pode ser utilizado para avaliar as competências do cuidador informal no contexto dominciliário.

Abstract Background: Health professionals are responsible for training informal caregivers to provide home care and therefore it is important to assess caregivers’ skills. Objective: To explore the psychometric properties of a questionnaire for assessing informal caregivers’ skills. Methodology: Methodological study involving 216 informal caregivers from a city in the southern region of Brazil. Structural construct validity was examined through exploratory and confirmatory factor analysis. Reliability was assessed by evaluating internal consistency. Results: The exploratory factor analysis revealed four factors corresponding to the following skills: Psychomotor (Factor 1), Cognitive (Factor 2), Emotional (Factor 3), and Relational (Factor 4). The confirmatory factor analysis revealed satisfactory results for all fit indices and internal consistency of α = 0.82. Conclusion: The questionnaire shows evidence of reliability and validity and can be used to assess informal caregivers’ skills in home settings.

RESUMO Objetivo: Descrever o caso de um paciente com hipotireoidismo congênito central (HCC) por conta de uma mutação recorrente no gene TSHB, bem como realizar um estudo genético de sua família. Descrição do caso: Relato de caso de um menino de 5 meses de idade com diagnóstico tardio de HCC isolado, em quem a análise molecular foi realizada 12 anos depois e detectou uma mutação recorrente (c.373delT) no gene TSHB. Os pais e a irmã eram portadores do alelo mutante. Comentários: A mutação c.373delT já foi relatada em pacientes do Brasil, da Alemanha, da Bélgica, dos Estados Uinidos, da Suíça, da Argentina, da França, de Portugal, do Reino Unido e da Irlanda. Em resumo, nosso caso e outros relatados na literatura reforçam a teoria de que essa mutação pode ser uma causa comum de deficiência isolada de TSH. A deficiência isolada de TSH não é detectada na triagem neonatal com base na dosagem de TSH, representando um desafio clínico. Portanto, quando possível, o estudo genético molecular é indicado. A identificação dos afetados e dos portadores permite o diagnóstico, o tratamento e o aconselhamento genético adequado.

ABSTRACT Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele. Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling.

RESUMO A endometriose é caracterizada pela presença de tecido endometrial fora da cavidade uterina. Seu mecanismo fisiopatológico é pouco esclarecido, mas várias hipóteses são descritas - dentre elas a disseminação de células endometriais por via hematogênica ou linfática. A apresentação clínica é bastante variável, mas podem estar presentes massa palpável, sangramentos cíclicos ou alterações de coloração da pele na região afetada. O diagnóstico é estabelecido a partir do exame clínico, associado a exames de imagem e biópsia da lesão. O tratamento de escolha é o cirúrgico com excisão da lesão e reconstrução da anatomia local. Apresentamos um relato de caso de uma paciente de 35 anos, com endometriose umbilical, com necessidade de excisão da lesão e confecção de novo umbigo. A evolução da afecção descrita é estritamente relacionada ao manejo diagnóstico e propedêutico instituído; sendo assim, a exclusão de diagnósticos diferenciais, benignos ou malignos, é de suma importância. uterina esclarecido linfática variável palpável afetada clínico local 3 anos umbilical umbigo instituído assim diferenciais malignos importância

ABSTRACT Endometriosis is characterized by the presence of endometrial tissue outside the uterine cavity. The pathophysiology of this condition is poorly understood. However, several hypotheses have been proposed, including the spread of endometrial cells via hematogenous or lymphatic routes. The clinical presentation is variable but includes a palpable nodule, cyclic bleeding, and changes in the color of the skin in the affected region. Diagnosis is established by clinical examination combined with imaging and lesion biopsy. The treatment of choice is surgical, with excision of the lesion and tissue reconstruction. We report the case of a 35-year-old female patient with umbilical endometriosis and the need for removal of the lesion with umbilical reconstruction. The presentation of this condition determines the diagnostic and management approach. Therefore, the exclusion of other benign or malignant disorders is essential. cavity understood However proposed routes nodule bleeding region biopsy surgical reconstruction 35yearold yearold 35 year old approach Therefore essential 3

Resumo Objetivo: Este estudo tem por objetivo descrever o perfil da população que se submeteu a exame de defecografia, de acordo com a faixa etária e sexo do paciente, bem como os principais achados e diagnósticos de imagem nesta população. Materiais e Métodos: Estudo retrospectivo e descritivo com 39 pacientes realizado entre janeiro de 2012 e fevereiro de 2014. Os pacientes foram avaliados quanto a idade, sexo e os diagnósticos encontrados. Foram divididos por idade, e as variáveis contínuas são expressas como média ± desvio-padrão. Todas as quantificações possíveis em defecografia foram realizadas neste trabalho, incluindo esvaziamento da ampola retal, descenso perineal e as medidas do canal anal. Resultados: Dos 39 pacientes estudados, todos apresentaram alterações radiológicas, sendo a maioria do sexo feminino (95%). O mais novo tinha 18 anos e o mais velho, 82 anos (idade média de 52 ± 13 anos). Dez pacientes tinham menos de 40 anos, 18 tinham entre 40 e 60 anos e 11 pacientes tinham mais do que 60 anos. Os diagnósticos mais prevalentes foram retocele anterior (77%) e enterocele (38%). Os menos frequentes foram prolapso vaginal (2%), prolapso uterino (2%) e divertículo de Meckel (2%). Conclusão: As mulheres realizam mais exames de defecografia, porém ambos os gêneros se beneficiam deste estudo. A defecografia é capaz de detectar causas complexas de distúrbio da defecação como prolapso vaginal, uterino e retal, e pode ser utilizada em condições clínicas mais simples como a avaliação de retocele ou enterocele.

Abstract Objective: The objective of this study was to profile patients who undergo defecography, by age and gender, as well as to describe the main imaging and diagnostic findings in this population. Materials and Methods: This was a retrospective, descriptive study of 39 patients, conducted between January 2012 and February 2014. The patients were evaluated in terms of age, gender, and diagnosis. They were stratified by age, and continuous variables are expressed as mean ± standard deviation. All possible quantitative defecography variables were evaluated, including rectal evacuation, perineal descent, and measures of the anal canal. Results: The majority (95%) of the patients were female. Patient ages ranged from 18 to 82 years (mean age, 52 ± 13 years): 10 patients were under 40 years of age; 18 were between 40 and 60 years of age; and 11 were over 60 years of age. All 39 of the patients evaluated had abnormal radiological findings. The most prevalent diagnoses were rectocele (in 77%) and enterocele (in 38%). Less prevalent diagnoses were vaginal prolapse, uterine prolapse, and Meckel's diverticulum (in 2%, for all). Conclusion: Although defecography is performed more often in women, both genders can benefit from the test. Defecography can be performed in order to detect complex disorders such as uterine and rectal prolapse, as well as to detect basic clinical conditions such as rectocele or enterocele.

Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus. In the present study, we report the results of a CNV investigation in 29 individuals whose anatomopathologic investigation of the brain showed AGD. Rare CNVs were identified in six patients (21%), in particular a 40 kb deletion at 17p13.2 encompassing the CTNS gene. Homozygote mutations in CTNS are known to cause cystinosis, a disorder characterized by the intralysosomal accumulation of cystine in all tissues. We present the first CNV results in individuals presenting AGD and a possible candidate gene implicated in the disorder.

O polissacarídeo algal ulvana induz resistência em macieira à mancha foliar de Glomerella. Porém, modificações no processo pré-infeccioso de Colletotrichum gloeosporioides vêm sendo relatadas em plantas previamente tratadas com ulvana. Assim, este trabalho objetivou verificar se o polissacarídeo interfere diretamente no desenvolvimento de estruturas pré-infectivas. Para tanto, depositou-se gotas de 10 µL de suspensão de 2x10(5) conídios.mL-1 em segmentos de papel celofane, assentados sobre lâminas de vidro. A suspensão conidial foi preparada com solução aquosa contendo ou não ulvana (10 mg.mL-1). As amostras foram incubadas a 25ºC e 100% de humidade relativa. A cada duas horas, 100 conídios por gota foram examinados microscopicamente (200x), por um período de 16h. As taxas de germinação de conídios, formação e melanização de apressórios foram quantificadas. A germinação dos conídios não foi afetada. Ulvana estimulou o alongamento do tubo germinativo, mas retardou a diferenciação do primeiro apressório (séssil). O polissacarídeo acelerou a formação do segundo apressório, mas inibiu a sua melanização.

The algal polysaccharide ulvan induces resistance in apple to Glomerella leaf spot. However, changes in the pre-infectious process of Colletotrichum gloeosporioides have been reported in apple plants previously treated with ulvan. Thus, this study aimed to verify if the polysaccharide interferes directly in the development of pre-infective structures. For this, 10 µL drops of spore suspension (2x10(5) conidia.m L-1) were distributed on cellophane paper segments settled on glass slides. The conidial suspension was prepared with aqueous solution with (10 mg.mL-1) or without ulvan. Samples were incubated at 25ºC and 100% relative humidity. At every two hours of incubation and over a period of 16 hours, 100 conidia per drop were microscopically (200x) examined. The rates of conidia germination, apressoria formation and melanization were quantified. Germination of conidia was not affected. Ulvan stimulated the elongation of the germ tube but retarded the differentiation of the first apressorium (sessile). The polysaccharide accelerated the formation of second apressorium, but inhibited its melanization.