Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.

OBJECTIVE: To evaluate the presence of multiple genetic diagnoses in syndromic growth disorders. STUDY DESIGN: We carried out a cross-sectional study to evaluate 115 patients with syndromic tall (n = 24) or short stature (n = 91) of unknown cause from a tertiary referral center for growth disorders. Exome sequencing was performed to assess germline single nucleotide, InDel, and copy number variants. All variants were classified according to ACMG/AMP guidelines. The main outcome measured was the frequency of multiple genetic diagnoses in a cohort of children with syndromic growth disorders. RESULTS: The total diagnostic yield of the cohort was 54.8% (63/115). Six patients had multiple genetic diagnoses (tall stature group = 2; short stature group = 4). The proportion of multiple diagnoses within total cases was 5.2% (6/115), and within solved cases was 9.5% (6/63). No characteristics were significantly more frequent when compared with patients with single or multiple genetic findings. Among patients with multiple diagnoses, 3 had syndromes with overlapping clinical features, and the others had syndromes with distinct phenotypes. CONCLUSION: Recognition of multiple genetic diagnoses as a possibility in complex cases of syndromic growth disorders opens a new perspective on treatment and genetic counseling for affected patients, defying the medical common sense of trying to fit all findings into one diagnosis.

Gold score athletics: talent detection model for track and field / Gold score athletics: modelo de detección de talentos para el atletismo / Gold score athletics: modelo de detecção de talentos para o atletismo

ABSTRACT Introduction: Talent detection is a dynamic and multifactorial process that must start at school. Objective: Create a mathematical model for evaluating the sporting potential of schoolchildren for athletics in speed, throwing, and endurance events and to test its psychometric properties. Methods: 2871 schoolchildren of both sexes, from 11 to 17 years old, from a military school participated. Between 2015 and 2019, students were submitted to a multidimensional battery of tests containing anthropometric, physical-motor, psychological, socio-environmental, maturational, and performance indicators. In addition, ten teachers evaluated the students regarding the intangibles aspects of their sporting potential and the expectation of future success during this period. Adopting analytical and heuristic procedures, the Gold Score Athletics was created - linear, hybrid (tests + coaches´ eye), and weighted index, according to each indicator's importance, depending on the event type. Results: In the model validation sample (n = 1384), 13.9%, 16.6%, and 11.7% of boys and 10.9%, 10.1%, and 9.1% of girls were classified as high potential (Gold Score ≥ 60) for speed, throwing and endurance events, respectively. Internal consistency (r = 0.76 to 0.82) and diagnostic stability were high (r = 0.72 to 0.81). The Gold Score Athletics for sprinters, throwers, and long-distance runners, both for boys and girls, was higher in students selected for a national competition when compared to those not selected (p < 0.001; d: 0.95 a 1.44) - construct validity - and higher in medalists in an athletics competition, held two years after diagnosis, when compared to non-medalists (p < 0.05; d: 0.62 a 1.87) - predictive validity. Conclusion: The Gold Score Athletics is a valid and reliable scientific model for evaluating the sport's potential of schoolchildren, being useful in the talents detection for Athletics. Level of Evidence II; Diagnostic study.

RESUMEN Introducción: La detección de talentos es un proceso dinámico y multifactorial que debe iniciarse en la escuela. Objetivo: Crear un modelo matemático para evaluar el potencial deportivo de escolares para pruebas de velocidad, lanzamiento y resistencia en atletismo, y probar sus propiedades psicométricas. Métodos: Participaron 2871 escolares de ambos sexos de 11 a 17 años de una escuela militar. Los estudiantes fueron sometidos a una batería de pruebas multidimensionales, que contenían indicadores antropométricos, físico-motores, psicológicos, socioambientales, madurativos y de desempeño. 10 docentes evaluaron a los alumnos sobre los aspectos intangibles del potencial deportivo y la expectativa de éxito futuro. Adoptando procedimientos analíticos y heurísticos, se creó el Gold Score Athletics, índice lineal, híbrido (pruebas + mirada del profesor) y ponderado, según la importancia de cada indicador según el tipo de prueba. Resultados: En la muestra de validación del modelo (n = 1384), el 13,9%, 16,6% y 11,7% de los niños y el 10,9%, 10,1% y 9,1% de las niñas fueron clasificados como de alto potencial (Gold Score ≥ 60) en velocidad, lanzamiento y eventos de resistencia. La consistencia interna (r = 0,76 a 0,82) y la estabilidad diagnóstica fueron altas (r = 0,72 a 0,81). El Gold Score Athletics para velocistas, lanzadores y corredores de fondo, para ambos sexos, fue mayor en los estudiantes seleccionados para una competición nacional en comparación con los no seleccionados (p < 0.001; d: 0,95 a 1,44) - validez del constructo - y mayor en medallistas en una competición de atletismo, realizada dos años después del diagnóstico, en comparación con los no medallistas (p < 0,05; d: 0,62 a 1,87) - validez predictiva. Conclusión: El Gold Score Athletics es un modelo científico válido y fiable para evaluar el potencial deportivo de los escolares, siendo útil en la detección de talentos para el Atletismo. Nivel de Evidencia II; Estudio diagnóstico.

RESUMO Introdução: A detecção de talentos é um processo dinâmico e multifatorial que deve começar pela escola. Objetivo: Criar um modelo matemático de avaliação do potencial esportivo de escolares para as provas de velocidade, lançamentos e resistência no atletismo, e testar as suas propriedades psicométricas. Métodos: Participaram 2871 escolares de ambos os sexos de 11 a 17 anos de um colégio militar. Os alunos foram submetidos a uma bateria de testes multidimensionais, contendo indicadores antropométricos, físico-motores, psicológicos, socioambientais, maturacionais e de desempenho. 10 professores avaliaram os alunos quanto aos aspectos intangíveis do potencial esportivo e a expectativa de sucesso futuro. Adotando procedimentos analíticos e heurísticos, criou-se o Gold Score Athletics - índice linear, híbrido (testes + olho do treinador) e ponderado, de acordo com a importância de cada indicador em função do tipo de prova. Resultados: Na amostra de validação do modelo (n = 1384), 13,9%, 16,6% e 11,7% dos meninos e 10,9%, 10,1% e 9,1% das meninas foram classificados como elevado potencial (Gold Score ≥ 60) para provas de velocidade, lançamentos e resistência respectivamente. A consistência interna (r = 0,76 a 0,82) e estabilidade do diagnóstico foram elevadas (r = 0,72 a 0,81). O Gold Score Athletics para velocistas, lançadores e corredores de longa distância, para ambos os sexos, foi maior nos estudantes selecionados para uma competição nacional quando comparados aos não selecionados (p < 0,001; d: 0,95 a 1,44) - validade de construto - e maior nos medalhistas em uma competição de Atletismo, realizada dois anos após o diagnóstico, quando comparados aos não medalhistas (p < 0,05; d: 0,62 a 1,87) - validade preditiva. Conclusão: O Gold Score Athletics é um modelo científico válido e fidedigno de avaliação do potencial esportivo de escolares, sendo útil na detecção de talentos para o Atletismo. Nível de Evidência II; Estudo diagnóstico.

Serological Evidence of Hepatitis E Virus Infection in Brazilian Equines.

Hepatitis E virus (HEV) infection has been demonstrated in various animal species; those recognized as potential zoonotic reservoirs pose a considerable risk to public health. In Brazil, HEV-3 is the only genotype identified in humans and swine nationwide, in a colony-breeding cynomolgus monkey and, recently, in bovines and capybara. There is no information regarding HEV exposure in the equine population in Brazil. This study aimed to investigate anti-HEV antibodies and viral RNA in serum samples from horses slaughtered for meat export and those bred for sport/reproduction purposes. We used a commercially available ELISA kit modified to detect species-specific anti-HEV, using an anti-horse IgG-peroxidase conjugate and evaluating different cutoff formulas and assay precision. Serum samples (n = 257) were tested for anti-HEV IgG and HEV RNA by nested RT-PCR and RT-qPCR. The overall anti-HEV seroprevalence was 26.5% (68/257) without the detection of HEV RNA. Most municipalities (53.3%) and farms (58.8%) had positive horses. Animals slaughtered for human consumption had higher risk of HEV exposure (45.5%) than those bred for sports or reproduction (6.4%) (p < 0.0001). The statistical analysis revealed sex and breeding system as possible risk-associated factors. The first serological evidence of HEV circulation in Brazilian equines reinforces the need for the surveillance of HEV host expansion in a one-health approach.

Talent identification and development in Olympic triathlon: a perspective from Brazilian coaches / Identificação e desenvolvimento de talentos no triatlo olímpico: uma perspectiva de treinadores brasileiros

Abstract The knowledge of coaches has been used in research on talent identification and development. The objective was to investigate how Brazilian triathlon coaches identify talents and what is the importance of different factors and indicators for the development of young triathletes. 37 coaches (89% male; 36.2 ± 8.3 years; 43% international competitive level) answered an online questionnaire about anthropometric, physical-motor, technical, tactical, psychological and environmental characteristics. On a scale of 1 (not very important) to 5 (extremely important), coaches indicated to what extent a factor/indicator of sporting potential was important for talent development in triathlon. 45.9% of the coaches perform talent identification, mainly by physical-motor tests and triathlon simulations. In talent development, the physical-motor factor was the most important, followed by the technical, psychological and anthropometric factor, and finally the tactical and environmental factor. Most coaches considered as extremely important the following indicators: determination (70%), aerobic endurance (65%), specific swimming skills (62%), ability to withstand pressure (59%), and efficiency of the cyclic gesture of swimming, cycling, and running (57%). We conclude that Brazilian triathlon coaches identify talents mainly through batteries of tests and triathlon simulations and consider the physical-motor factor the most important for the development of young talented triathletes, but not the only one.

Resumo O conhecimento dos treinadores tem sido utilizado na pesquisa sobre identificação e desenvolvimento de talentos. O objetivo foi investigar como os treinadores de triatlo brasileiros identificam os talentos e qual é a importância de diferentes fatores e indicadores para o desenvolvimento de jovens triatletas. 37 treinadores (89% homens; 36,2 ± 8,3 anos; 43% nível competitivo internacional) responderam um questionário online sobre características antropométricas, físico-motoras, técnicas, táticas, psicológicas e ambientais. Em uma escala de 1 (não muito importante) a 5 (extremamente importante), os treinadores indicaram em que medida um fator/indicador do potencial esportivo era importante para o desenvolvimento de talentos no triatlo. 45,9% dos treinadores realizam identificação de talentos, principalmente por testes físico-motores e simulados de triatlo. No desenvolvimento de talentos, o fator físico-motor foi o mais importante, seguido pelo fator técnico, psicológico e antropométrico, e por fim o fator tático e ambiental. A maioria dos treinadores considerou como extremamente importante os indicadores: determinação (70%), resistência aeróbica (65%), habilidades específicas de natação (62%), capacidade de suportar pressão (59%) e eficiência do gesto cíclico de nadar, pedalar e correr (57%). Conclui-se que os treinadores de triatlo brasileiros identificam talentos principalmente por meio de baterias de testes e simulados de triatlo e consideram o fator físico-motor o mais importante para o desenvolvimento de jovens triatletas talentosos, mas não o único.

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review genes and CNV syndromes associated with microcephaly. We performed chromosomal microarray analysis (CMA) in 185 Brazilian patients with microcephaly and evaluated microcephalic patients carrying < 200 kb CNVs documented in the DECIPHER database. Additionally, we reviewed known genes and CNV syndromes causally linked to microcephaly through the PubMed, OMIM, DECIPHER, and ClinGen databases. Rare clinically relevant CNVs were detected in 39 out of the 185 Brazilian patients investigated by CMA (21%). In 31 among the 60 DECIPHER patients carrying < 200 kb CNVs, at least one known microcephaly gene was observed. Overall, four gene sets implicated in microcephaly were disclosed: known microcephaly genes; genes with supporting evidence of association with microcephaly; known macrocephaly genes; and novel candidates, including OTUD7A, BBC3, CNTN6, and NAA15. In the review, we compiled 957 known microcephaly genes and 58 genomic CNV loci, comprising 13 duplications and 50 deletions, which have already been associated with clinical findings including microcephaly. We reviewed genes and CNV syndromes previously associated with microcephaly, reinforced the high CMA diagnostic yield for this condition, pinpointed novel candidate loci linked to microcephaly deserving further evaluation, and provided a useful resource for future research on the field of neurodevelopment.

Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases.

Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predominantly composed of pheochromocytoma (PCC), a chromaffin cell tumor arising in adrenal medulla, and ganglioneuroma, a tumor derived from autonomic ganglion cells of the nervous system. Moreover, CP may be present in the hereditary syndromes of which pheochromocytoma is part. Literature offers scarce data on this subject, and particularly about its biological behavior, clinical evolution, and molecular profile. We report the phenotype and outcome of three cases of CP (PCC and ganglioneuroma components), followed up at the Endocrine Service of the Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, UFRJ, Rio de Janeiro, Brazil. Two nonsyndromic patients (cases 1 and 2) were negative to germline mutations in genes VHL, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and MAX, while the third case (case 3) had clinical diagnosis of neurofibromatosis syndrome. Cases 1, 2, and 3 were diagnosed at 29, 39, and 47 years old, respectively, and were followed up for 3, 17, and 9 years without no CP recurrence. All cases had apparent symptoms of catecholaminergic excess secreted by PCC. Ganglioneuroma, the neurogenic component present in all three cases, had a percentage representation ranging from 5% to 15%. Tumors were unilateral and large, measuring 7.0 cm × 6.0 cm × 6.0 cm, 6.0 cm × 4.0 cm × 3.2 cm, and 7.5 cm × 6.0 cm × 4.5 cm, respectively. All cases underwent adrenalectomy with no recurrence, metastasis, or development of contralateral tumor during follow-up. Genetic testing has been scarcely offered to CP cases. However, a similar frequency of genetic background is found when compared with classic PCC, mainly by the overrepresentation of NF1 cases in the CP subset. By literature review, we identified a notorious increase in cases reported with CP in the last decade, especially in the last 3 years, indicating a recent improvement in the diagnosis of this rare disorder in clinical practice.

Acute micro-outbreak of Chagas disease in the southeastern Amazon: a report of five cases.

BACKGROUND: Chagas disease is gaining importance in the Brazilian Amazon region as a differential diagnosis of febrile syndrome. The most recent microoutbreak occurred in Ipixuna, in Amazonas state. METHODS: An epidemiological survey was conducted using parasitological and serological tests, and electrocardiographic analysis. RESULTS: The patients belonged to one family and had ingested açaí acquired from Ipixuna. All patients reported fever and initially a thick blood smear test was done to identify Trypanosoma cruzi. Benznidazole treatment was administered to all patients. CONCLUSIONS: Knowledge of the epidemiological dynamics of Chagas disease allows us to improve control and management measures for this disease.

High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.

Most infants born with very low birth weight (VLBW, birth weight < 1500 g) show spontaneous catch-up growth in postnatal life. The reasons for the absence of catch-up growth are not entirely understood. We performed a comprehensive investigation of 52 children born with VLBW. Ten children had a history of an external cause that explained the VLBW and five refused genetic evaluation. Twenty-three cases were initially evaluated by a candidate gene approach. Patients with a negative result in the candidate gene approach (n = 14) or without clinical suspicion (n = 14) were assessed by chromosome microarray analysis (CMA) and/or whole-exome sequencing (WES). A genetic condition was identified in 19 of 37 (51.4%) patients without an external cause, nine by candidate gene approach, and 10 by a genomic approach (CMA/WES). Silver-Russell syndrome was the most frequent diagnosis (n = 5) and the remaining patients were diagnosed with other rare monogenic conditions. Almost all patients with a positive genetic diagnosis exhibited syndromic features (94.4%). However, microcephaly, neurodevelopmental disorders, major malformation, or facial dysmorphism were also frequently observed in children with an external cause. In conclusion, a significant proportion of children born with VLBW with persistent short stature have a genetic/epigenetic condition.

Genetic investigation of syndromic forms of obesity.

BACKGROUND: Syndromic obesity (SO) refers to obesity with additional phenotypes, including intellectual disability (ID)/developmental delay (DD), dysmorphic features, or organ-specific abnormalities. SO is rare, has high phenotypic variability, and frequently follows a monogenic pattern of inheritance. However, the genetic etiology of most cases of SO has not been elucidated. SUBJECTS AND METHODS: In this study, we investigated 20 SO patients by whole-exome sequencing (WES) trios to identify causal genetic variants. RESULTS: 4/20 patients had negative results for array comparative genomic hybridization (aCGH) analyses. In the remaining 15 patients, in addition to SNVs and indels, CNVs were also evaluated. Pathogenic/likely pathogenic (P/LP) SNVs/indels were detected in 6/20 patients (involving MED13L, AHDC1, EHMT1, MYT1L, GRIA3, and SETD1A), while two patients carried an inherited VUS. In addition, P/LP CNVs were observed in 3/15 patients (involving SATG2, KIAA0442, and MEIS2). CONCLUSIONS: All nine detected P/LP variants involved genes already known to lead to syndromic ID/DD; however, for only two genes (EHMT1 and MYT1L) is the link with obesity well established. This is the first study applying a comprehensive genomic investigation of an SO cohort, showing a high diagnostic yield (~47%). Additionally, our findings suggested that several known ID/DD genes may also predispose individuals to SO.

Flow rates of double-lumen over-the-wire catheters for high-volume fluid resuscitation in large animal species.

OBJECTIVES: To evaluate the maximum in vitro flow rate of 6 types of polyurethane over-the-wire double lumen catheters using both ports, for high volume fluid resuscitation in large animal species. SETTINGS: University teaching hospital. DESIGN: Prospective in vitro experimental study. INTERVENTIONS: The flow rate of both ports of 6 polyurethane double lumen over-the-wire catheters (11 and 13-Fr, 15 and 20 cm long, elliptical and tapered tip designs) and 2 types of infusion (with or without pressure bags) were tested on a factorial scheme (6 × 2) in triplicate, using commercial isotonic crystalloid (0.9% NaCl) and synthetic colloid (6% Hydroxyethyl starch, 130/0.4). MEASUREMENTS AND MAIN RESULTS: Flow rates were influenced by catheter diameter, length, tip design and presence or absence of pressure bags (P < 0.05). Mean flow rates during non-pressurized 0.9% NaCl infusion ranged from 584 mL/min (35 L/h; 11-Fr x 15 cm x tapered tip catheter) to 905 mL/min (54 L/h; 13-Fr x 15 cm x elliptical tip catheter). Mean flow rates during non-pressurized synthetic colloid infusion varied from 404 mL/min (24 L/h; 11-Fr x 15 cm x tapered tip catheter) to 724 mL/min (43 L/h; 13-Fr x 15 cm x elliptical tip catheter). Mean flow rates during pressurized infusion were 1.72 and 2.02 times greater than those obtained by gravity alone for 0.9% NaCl and synthetic colloid, respectively (P < 0.05). CONCLUSIONS: Highest in vitro flow rates were achieved when larger diameter, shorter and elliptical tip catheters were used during 0.9% NaCl infusion. Catheter diameter, tip design but not length influenced the flow rate during synthetic colloid infusion. The use of pressure bags significantly increased the flow rate of all catheters, for both solutions.

Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant.

We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T). In this autosomal dominant form of growth hormone deficiency (type II), exon 3 skipping results in expression of the 17.5 kDa isoform of growth hormone, which has a dominant negative effect over the bioactive isoform, is retained in the endoplasmic reticulum, disrupts the Golgi apparatus, and impairs the secretion of other pituitary hormones in addition to growth hormone deficiency. This mechanism led to the progression of central hypothyroidism in the same patient. After 5 years of growth and thyroid hormone replacement, at the age of 33, laboratory evaluation for increased weight gain revealed high serum and urine cortisol concentrations, which could not be suppressed with dexamethasone. Magnetic resonance imaging of the sella turcica detected a pituitary macroadenoma, which was surgically removed. Histological examination confirmed an adrenocorticotropic hormone (ACTH)-secreting pituitary macroadenoma. A ubiquitin-specific peptidase 8 (USP8) somatic pathogenic variant (c.2159C>G/p.Pro720Arg) was found in the tumor. In conclusion, we report progression of isolated growth hormone deficiency due to a germline GH1 variant to combined pituitary hormone deficiency followed by hypercortisolism due to an ACTH-secreting macroadenoma with a somatic variant in USP8 in the same patient. Genetic studies allowed etiologic diagnosis and prognosis of this unique case.

Acute micro-outbreak of Chagas disease in the southeastern Amazon: a report of five cases

ABSTRACT Background: Chagas disease is gaining importance in the Brazilian Amazon region as a differential diagnosis of febrile syndrome. The most recent microoutbreak occurred in Ipixuna, in Amazonas state. Methods: An epidemiological survey was conducted using parasitological and serological tests, and electrocardiographic analysis. Results: The patients belonged to one family and had ingested açaí acquired from Ipixuna. All patients reported fever and initially a thick blood smear test was done to identify Trypanosoma cruzi. Benznidazole treatment was administered to all patients. Conclusions: Knowledge of the epidemiological dynamics of Chagas disease allows us to improve control and management measures for this disease.

Determinantes do desempenho no atletismo: uma perspectiva dos treinadores / Determinants of performance in athletics: a coache's perspective / Determinantes del rendimiento en atletismo: una perspectiva de los entrenadores

Introdução: a avaliação do potencial esportivo é uma etapa importante na descoberta de novos talentos e deve utilizar preditores relevantes do desempenho. Objetivo: investigar a importância atribuída por treinadores aos determinantes do desempenho no atletismo, analisando diferenças entre os tipos de prova. Metodologia: participaram 12 treinadores brasileiros de atletismo (11 homens; 83% de Minas Gerais; 75% com experiência no alto rendimento e 42% com títulos internacionais). Aplicou-se um questionário contendo seis fatores e 51 indicadores do desempenho no atletismo. Os treinadores responderam em relação a importância atribuída aos fatores antropométrico, físico-motor, técnico, tático, psicológico e socioambiental, numa escala Likert (1-nada importante e 5-extremamente importante) e a ordem de importância, considerando do 1º ao 6º mais importante. Avaliaram ainda a importância para o desempenho de velocistas, fundistas, saltadores, lançadores e provas combinadas. Resultados e discussão: a ordem de importância dos fatores de desempenho foi: 1º) Físico-motor, 2º) Técnico, 3º) Psicológico, 4º) Antropométrico, 5º) Tático e 6º) Socioambiental. O fator tático, entretanto, foi o mais importante para os fundistas e atletas de provas combinadas. Conclusão: a opinião dos treinadores revelou que as características físico-motoras, técnicas e psicológicas são, nesta ordem, os principais fatores determinantes do desempenho no atletismo. Porém, é preciso considerar as diferenças observadas em relação aos grupos de provas, pois cada um apresenta particularidades que caracterizam um perfil específico.

Introduction: Assessing sporting potential is an important step in discovering new talent and should use relevant performance predictors, which vary by modality. Objective: investigate the importance attributed by coaches to the determinants of performance in athletics, analyzing differences between the events groups. Methodology: Twelve Brazilian coaches participated (11 men, 83% from Minas Gerais, 75% had high-level experience and 42% from international titles). A questionnaire containing six factors and 51 performance indicators in athletics was applied. The coaches answered the importance attributed to anthropometric, physicomotor, technical, tactical, psychological and socio-environmental factors, on a Likert scale, being 1-nothing important and 5-extremely important. Then, they informed the order of importance of these factors for the performance in athletics, considering from the 1st to the 6th most important. Finally, they evaluated the importance of factors and performance indicators for sprinters, long-distance runners, jumpers, throwers and, track and field combined events. Results and discussion: The order of importance of the performance factors was: 1º) Physicomotor, 2º) Technical, 3º) Psychological, 4º) Anthropometric, 5º) Tactical and 6º) Socio-environmental. The tactical factor was the most important for the long-distance runners and athletes of combined events. Conclusion: In the opinion of the coaches, physicomotor, technical and psichologycal characteristics are, in this order, the main determinant factors of performance in athletics. However, it is necessary to consider the differences between events groups. Each event group shows particular characteristics that result in a specific profile.

Introducción: La evaluación del potencial deportivo es un paso importante para descubrir nuevos talentos y debe utilizar predictores de rendimiento relevantes, que varían según la modalidad. Objetivo: Investiga la importancia de los entrenadores para los determinantes del rendimiento en el atletismo, analizando las diferencias entre los grupos de eventos. Metodología: Asistieron doce entrenadores brasileños (11 hombres, 83% de Minas Gerais, 75% con experiencia de alto nivel y 42% de títulos internacionales). Se aplicó un cuestionario que contenía seis factores y 51 indicadores de rendimiento en atletismo. Los entrenadores respondieron la importancia de los factores antropométricos, fisicomotores, técnicos, tácticos, psicológicos y socioambientales, en escala Likert, siendo 1-nada importante y 5-extremadamente importante. Luego, informaron el orden de importancia de estos factores para el desempeño en atletismo, considerando del 1º al 6º más importantes. Finalmente, evaluaron la importancia de factores e indicadores de desempeño para velocistas, corredores de fondo, saltadores, lanzadores y eventos combinados de pista y campo. Resultados e discusión: El orden de importancia de los factores de desempeño fue: 1º) Fisicomotor, 2º) Técnico, 3º) Psicológico, 4º) Antropométrico, 5º) Táctico y 6º) Socioambiental. El factor táctico fue el más importante para los corredores de fondo y los atletas de eventos combinados. Conclusión: En opinión de los entrenadores, las características físico-motoras, técnicas y psicológicas son, por este orden, los principales factores determinantes del rendimiento en el atletismo. Sin embargo, es necesario considerar las diferencias entre los grupos de eventos. Cada grupo de eventos muestra personajes particulares que dan como resultado un perfil específico.

Efetividade da terapia alvo molecular como abordagem terapêutica para câncer de bexiga metastático: revisão da literatura / Effectiveness of molecularly targeted therapy as a therapeutic approach for metastatic bladder cancer: literature review

Introdução: O câncer de bexiga é a neoplasia maligna mais comum do sistema urinário, é o décimo tipo de câncer de maior incidência no mundo, com aproximadamente 570 mil novos diagnósticos anualmente. Ocorre em uma proporção 4:1 entre homens e mulheres. Objetivo: Avaliar, por meio de uma revisão da literatura, a atuação da terapia alvo molecular sobre o câncer de bexiga metastático. Método: Revisão da literatura, apoiado em artigos nacionais e internacionais, com busca de artigos nas bases eletrônicas PubMed (internacional) e Scielo (nacional). Resultados: Foram selecionados 10 artigos para compor a amostra do presente estudo. Discussão: Terapias alvo moleculares vêm sendo desenvolvidas e demonstram excelentes taxas de resposta em pacientes previamente tratados, inclusive aqueles que receberam inibidores de checkpoint imunológico ­ ICI e pacientes com câncer de bexiga metastático. Conclusão: As terapias direcionadas atualmente em estudo para câncer de bexiga, especialmente em estágio avançado, demonstram eficácia em outros tumores sólidos. Há considerável heterogeneidade genética nos diferentes tipos de tumor, consequentemente, subgrupos específicos de pacientes podem ter um benefício maior com terapias direcionadas. Além disso, as células tumorais podem se adaptar a terapias direcionadas desenvolvendo resistência. A definição da terapia deve ocorrer após a análise das especificidades do paciente, bem como dos estágios do câncer de bexiga para que uma seleção mais adequada ocorra. Palavras-chave: Câncer de bexiga. Terapia alvo molecular. Estágio do câncer.

Representação da masculinidade de homens acadêmicos e sua implicação para o campo da saúde / Representation of the masculinity of academic men and its implications for the health field / Representación de la masculinidad de los hombres académicos y sus implicaciones para el campo de la salud

Objetivo: conhecer a representação da masculinidade dos homens acadêmicos da Universidade Federal Fluminense e analisar suas implicações para o campo da saúde. Método: trata-se de um estudo descritivo, exploratório, de natureza qualitativa que teve como referencial metodológico a hermenêutica-dialética. Foi submetido ao Comitê de Ética do Hospital Universitário Antônio Pedro sob o CAAE 0264.0.258.000-10. Os participantes da pesquisa foram quinze acadêmicos do gênero masculino, de diferentes cursos de graduação da universidade. Utilizou-se o questionário de dados sociodemográficos e um instrumento de entrevista semiestruturada. Resultados: os depoimentos mostraram a importância de conhecer a representação que cada indivíduo possui acerca de sua masculinidade, para que melhor se compreenda o homem e suas expectativas. Conclusão: o reduzido envolvimento dos acadêmicos com os cuidados em saúde decorre em função dos modelos de masculinidade estabelecidos ao longo da vida do homem.(AU)

Objective: to know the representation of masculinity of academic men at Universidade Federal Fluminense and analyze its implications for the health field. Method: this is a descriptive, exploratory, qualitative study that used the hermeneutic-dialectic methodological framework. Submitted to the Ethics Committee of Hospital Universitário Antônio Pedro under CAAE 0264.0.258.000-10. The participants were fifteen male academics, from different undergraduate courses in university. The socio-demographic data questionnaire and a semi-structured interview instrument were used. Results: the testimonies showed the importance of knowing the representation that each individual has about his masculinity, in order to better understand the man and his expectations. Conclusion: the reduced involvement of academics in health care is due to the masculinity models established throughout the life of men.(AU)

Objetivo: conocer la representación de la masculinidad de los académicos en la Universidade Federal Fluminense y analizar sus implicaciones para el campo de la salud. Método: se trata de un estudio descriptivo, exploratorio y cualitativo que utilizó el marco metodológico hermenéutico-dialéctico. Fue presentado al Comité de Ética del Hospital Universitario Antonio Pedro bajo CAAE 0264.0.258.000-10. Los participantes de la investigación fueron quince académicos masculinos, de diferentes cursos de pregrado en la universidad. Se utilizó el cuestionario de datos sociodemográficos y un instrumento de entrevista semiestructurada. Resultados: los testimonios mostraron la importancia de conocer la representación que cada indivíduo tiene sobre su masculinidad, para comprender mejor al hombre y sus expectativas. Conclusión: la menor participación de los académicos en la atención médica se debe a los modelos de masculinidad establecidos a lo largo de la vida de los hombres.(AU)

Clostridioides (Clostridium) difficile-associated diarrhea in equine in Minas Gerais, Brazil: clinical and microbiological characterization of six cases / Diarreia por Clostridioides (Clostridium) difficile em equinos em Minas Gerais, Brasil: caracterização clínica e microbiológica de seis casos

ABSTRACT: Clostridioides (Clostridium) difficile is the main causative agent of antimicrobial-related diarrhea in humans and a major pathogen-associated enteric disorder in foals and adult horses. Moreover, studies have suggested that animals are a possible reservoir of toxigenic C. difficile strains for humans. Despite this known importance, the epidemiology of C. difficile infection (CDI) in equine is still largely unknown. Therefore, this study described six cases of equine CDI occurring in Minas Gerais, Brazil, including the characterization of the isolates. All but one equine included in this research developed CDI after antimicrobial therapy, three of which occurred during hospitalization. Coinfection with Salmonella Heidelberg and S. Infantis was detected in three cases, making the antimicrobial treatment challenging. All animals recovered after metronidazole administration. All C. difficile isolates were susceptible to metronidazole and vancomycin, while three were resistant to moxifloxacin and two were resistant to clindamycin. The isolates were classified as RT126 (n = 4), RT078 (n = 1), and RT014/020 (n = 1), all previously reported infecting humans and animals worldwide.

RESUMO: Clostridioides (Clostridium) difficile é o principal agente envolvido em diarreias associadas ao uso de antimicrobianos em seres humanos e um enteropatógeno de grande relevância em quadros de diarreia em potros e equinos adultos. Em adição, estudos tem sugerido que animais são possíveis reservatórios de estirpes toxigênicas de C. difficile para humanos. Apesar da importância na saúde animal e humana, a epidemiologia da infecção por C. difficile (ICD) é ainda pouco conhecida. Dessa forma, o presente estudo tem como objetivo caracterizar seis casos de diarreia por C. difficile ocorridos em Minas Gerais, Brasil. Com exceção de um animal, todos os equinos incluídos no presente estudo desenvolveram ICD após antibioticoterapia, três dos quais durante a hospitalização. Coinfecção por Salmonella Heidelberg e S. Infantis foi detectada em três casos, tornando o tratamento antimicrobiano desafiador. Todos os animais recuperaram após administração de metronidazol. Os isolados obtidos no presente estudo foram sensíveis a metronidazol e vancomicina, porém três estirpes foram resistentes a moxifloxacina e duas a clindamicina. Os isolados foram classificados como ribotipos 126 (n=4), 078 (n=1) e 014/020 (n=1), todos previamente relatados em seres humanos com ICD no Brasil e em outros países.

Clostridioides (Clostridium) difficile-associated diarrhea in equine in Minas Gerais, Brazil: clinical and microbiological characterization of six cases / Diarreia por Clostridioides (Clostridium) difficile em equinos em Minas Gerais, Brasil: caracterização clínica e microbiológica de seis casos

Clostridioides (Clostridium) difficile is the main causative agent of antimicrobial-related diarrhea in humans and a major pathogen-associated enteric disorder in foals and adult horses. Moreover, studies have suggested that animals are a possible reservoir of toxigenic C. difficile strains for humans. Despite this known importance, the epidemiology of C. difficile infection (CDI) in equine is still largely unknown. Therefore, this study described six cases of equine CDI occurring in Minas Gerais, Brazil, including the characterization of the isolates. All but one equine included in this research developed CDI after antimicrobial therapy, three of which occurred during hospitalization. Coinfection with Salmonella Heidelberg and S. Infantis was detected in three cases, making the antimicrobial treatment challenging. All animals recovered after metronidazole administration. All C. difficile isolates were susceptible to metronidazole and vancomycin, while three were resistant to moxifloxacin and two were resistant to clindamycin. The isolates were classified as RT126 (n = 4), RT078 (n = 1), and RT014/020 (n = 1), all previously reported infecting humans and animals worldwide.

Clostridioides (Clostridium) difficile é o principal agente envolvido em diarreias associadas ao uso de antimicrobianos em seres humanos e um enteropatógeno de grande relevância em quadros de diarreia em potros e equinos adultos. Em adição, estudos tem sugerido que animais são possíveis reservatórios de estirpes toxigênicas de C. difficile para humanos. Apesar da importância na saúde animal e humana, a epidemiologia da infecção por C. difficile (ICD) é ainda pouco conhecida. Dessa forma, o presente estudo tem como objetivo caracterizar seis casos de diarreia por C. difficile ocorridos em Minas Gerais, Brasil. Com exceção de um animal, todos os equinos incluídos no presente estudo desenvolveram ICD após antibioticoterapia, três dos quais durante a hospitalização. Coinfecção por Salmonella Heidelberg e S. Infantis foi detectada em três casos, tornando o tratamento antimicrobiano desafiador. Todos os animais recuperaram após administração de metronidazol. Os isolados obtidos no presente estudo foram sensíveis a metronidazol e vancomicina, porém três estirpes foram resistentes a moxifloxacina e duas a clindamicina. Os isolados foram classificados como ribotipos 126 (n=4), 078 (n=1) e 014/020 (n=1), todos previamente relatados em seres humanos com ICD no Brasil e em outros países.

Clostridioides (Clostridium) difficile-associated diarrhea in equine in Minas Gerais, Brazil: clinical and microbiological characterization of six cases / Diarreia por Clostridioides (Clostridium) difficile em equinos em Minas Gerais, Brasil: caracterização clínica e microbiológica de seis casos

Clostridioides (Clostridium) difficile is the main causative agent of antimicrobial-related diarrhea in humans and a major pathogen-associated enteric disorder in foals and adult horses. Moreover, studies have suggested that animals are a possible reservoir of toxigenic C. difficile strains for humans. Despite this known importance, the epidemiology of C. difficile infection (CDI) in equine is still largely unknown. Therefore, this study described six cases of equine CDI occurring in Minas Gerais, Brazil, including the characterization of the isolates. All but one equine included in this research developed CDI after antimicrobial therapy, three of which occurred during hospitalization. Coinfection with Salmonella Heidelberg and S. Infantis was detected in three cases, making the antimicrobial treatment challenging. All animals recovered after metronidazole administration. All C. difficile isolates were susceptible to metronidazole and vancomycin, while three were resistant to moxifloxacin and two were resistant to clindamycin. The isolates were classified as RT126 (n = 4), RT078 (n = 1), and RT014/020 (n = 1), all previously reported infecting humans and animals worldwide.(AU)

Clostridioides (Clostridium) difficile é o principal agente envolvido em diarreias associadas ao uso de antimicrobianos em seres humanos e um enteropatógeno de grande relevância em quadros de diarreia em potros e equinos adultos. Em adição, estudos tem sugerido que animais são possíveis reservatórios de estirpes toxigênicas de C. difficile para humanos. Apesar da importância na saúde animal e humana, a epidemiologia da infecção por C. difficile (ICD) é ainda pouco conhecida. Dessa forma, o presente estudo tem como objetivo caracterizar seis casos de diarreia por C. difficile ocorridos em Minas Gerais, Brasil. Com exceção de um animal, todos os equinos incluídos no presente estudo desenvolveram ICD após antibioticoterapia, três dos quais durante a hospitalização. Coinfecção por Salmonella Heidelberg e S. Infantis foi detectada em três casos, tornando o tratamento antimicrobiano desafiador. Todos os animais recuperaram após administração de metronidazol. Os isolados obtidos no presente estudo foram sensíveis a metronidazol e vancomicina, porém três estirpes foram resistentes a moxifloxacina e duas a clindamicina. Os isolados foram classificados como ribotipos 126 (n=4), 078 (n=1) e 014/020 (n=1), todos previamente relatados em seres humanos com ICD no Brasil e em outros países.(AU)

Proposal of an irrigation water quality index (IWQI) for regional use in the Federal District, Brazil.

The present study aimed to propose a water quality index (WQI) for the Federal District, Brazil, as a management tool for water resources used in irrigation. Irrigated agriculture is a sector that has been growing in the region, with a consequent demand for quality water. One strategy for assessing water quality in rural areas is to adopt monitoring programs, which generate a large amount of data that often needs to be synthesized. The use of indexes is a way of organizing data in a synthetic and easy to understand format. Although initially formulated to assess the quality of drinking water, it is believed that a similar logic can easily be applied to assess the quality of irrigation water. Studies that evaluate the quality of water for irrigation are very common in arid or semi-arid regions, due to the problems of saline water in the soil and crops. On the other hand, the microbiological approach to water is poorly investigated, since contamination of crops can pose a risk to food security. In this work, three water bodies were selected in rural areas due to their preponderant use: irrigation. The monitoring occurred between May 2012 and April 2013 in 9 sampling points. For each sample collected, 22 physical, chemical, and biological parameters were established. Principal component analysis (PCA) was used in the evaluation and selection of water quality variables to compose the WQI. From PCA, it was possible to reduce the number of parameters from 16 to 6 main ones that reflect the water resources characteristics in the region, which were pH, electrical conductivity, total hardness, sodium absorption ratio, nitrate, and Escherichia coli. Of the five classes proposed for WQI, two points were classified as "very good." The other sample points were classified as "good" and "average" for the irrigation practice. The adapted WQI proved to be a good tool in the management of the water quality of the three rivers, and it can be easily used to assess the quality of water for irrigation in the region.