Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.

BACKGROUND: Congenital mirror movements (CMM) is a rare neurodevelopmental disorder characterized by involuntary movements from one side of the body that mirror voluntary movements on the opposite side. To date, five genes have been associated with CMM, namely DCC, RAD51, NTN1, ARHGEF7, and DNAL4. OBJECTIVE: The aim of this study is to characterize the genetic landscape of CMM in a large group of 80 affected individuals. METHODS: We screened 80 individuals with CMM from 43 families for pathogenic variants in CMM genes. In large CMM families, we tested for presence of pathogenic variants in multiple affected and unaffected individuals. In addition, we evaluated the impact of three missense DCC variants on binding between DCC and Netrin-1 in vitro. RESULTS: Causal pathogenic/likely pathogenic variants were found in 35% of probands overall, and 70% with familial CMM. The most common causal gene was DCC, responsible for 28% of CMM probands and 80% of solved cases. RAD51, NTN1, and ARHGEF7 were rare causes of CMM, responsible for 2% each. Penetrance of CMM in DCC pathogenic variant carriers was 68% and higher in males than females (74% vs. 54%). The three tested missense variants (p.Ile164Thr; p.Asn176Ser; and p.Arg1343His) bind Netrin-1 similarly to wild type DCC. CONCLUSIONS: A genetic etiology can be identified in one third of CMM individuals, with DCC being the most common gene involved. Two thirds of CMM individuals were unsolved, highlighting that CMM is genetically heterogeneous and other CMM genes are yet to be discovered. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Trombosis venosa mesentérica y portal como causa infrecuente de obstrucción e isquemia intestinal en paciente joven. Reporte de caso / Mesenteric and Portal Venous Thrombosis as an infrequent cause of intestinal Obstruction and Ischemia in young patients. A case report

Resumen La isquemia mesentérica aguda se asocia a una mortalidad de entre el 50 y el 100%, la causa más rara de esta es la trombosis venosa de los vasos mesentéricos (5%) y portal (1%). Las manifestaciones clínicas son diversas, siendo el dolor abdominal el principal síntoma. La tomografía computarizada con contraste intravenoso en fase portal es la imagen más precisa para el diagnóstico. El tratamiento en fase aguda se basa en anticoagulación, fluidos intravenosos, antibióticos profilácticos, descanso intestinal y descompresión. La laparotomía de control de daños, incluida la resección intestinal y el abdomen abierto, pueden estar justificados en última instancia para pacientes con necrosis intestinal y sepsis. Caso clínico: Hombre de 35 años, sin antecedentes de importancia, solo tabaquismo desde hace 15 años. Refirió que 5 días previos comenzó a presentar dolor en el epigastrio tipo cólico, de intensidad moderada, posteriormente refirió que el dolor se generalizó y aumentó de intensidad, acompañado de náusea, vómito, intolerancia a la vía oral y alza térmica. Al examen físico tuvo datos de respuesta inflamatoria sistémica, estaba consciente y orientado, con abdomen doloroso a la palpación superficial y profunda a nivel generalizado, pero acentuado en el flanco derecho, rebote positivo con resistencia, timpanismo generalizado, peristalsis ausente. Se ingresó a quirófano a laparotomía exploradora, encontrando lesión a intestinal isquémica-necrótica a 190-240 cm del ángulo de Treitz, y 400 cc de líquido hemático; se realizó resección de la parte intestinal afectada, con entero-enteroanastomosis término-terminal manual. Se envió pieza a patología, y se reportó un proceso inflamatorio agudo con necrosis transmural y congestión vascular. Ante estos hallazgos se realizó angiotomografía abdominal que reportó defecto de llenado en la vena mesentérica superior, secundario a trombosis que se extendía hasta la confluencia y la vena porta. Conclusión: La trombosis venosa mesentérica y portal es una patología muy infrecuente en pacientes jóvenes sin factores de riesgo en los que se presenta dolor abdominal. El diagnóstico es complejo debido a que los datos clínicos y de laboratorio son poco específicos. Sin embargo, debemos tenerla en cuenta en el diagnóstico diferencial de etiologías de dolor abdominal.

Abstract Acute Mesenteric Ischemia is associated with a mortality rate between 50% and 100%; the rarest cause of this is venous thrombosis of the mesenteric (5%) and portal (1%) vessels. The clinical manifestations are diverse, with abdominal pain being the main symptom. Computed tomography with intravenous contrast in the portal phase is the most accurate image for diagnosis. Treatment in the acute phase is based on anticoagulation, intravenous fluids, prophylactic antibiotics, intestinal rest, and decompression. Damage control laparotomy, including bowel resection and open abdomen, may ultimately be warranted for patients with bowel necrosis and sepsis. Clinical case: 35-year-old man, with no significant history, only smoking for 15 years. For 5 days before, he reported crampy epigastric pain of moderate intensity. He subsequently reported that the pain became generalized and increased in intensity, accompanied by nausea, vomiting, oral intolerance, and temperature rise. The physical examination showed signs of a systemic inflammatory response, conscious and oriented, abdomen painful on superficial and deep palpation at a generalized level but accentuated on the right flank, positive rebound with resistance, generalized tympanism, absent peristalsis. The operating room was entered for exploratory laparotomy, finding an ischemic-necrotic intestinal lesion at 190 - 240 cm from the angle of Treitz, and 400cc of blood fluid. Resection of the affected intestinal part is performed, with entire manual terminal end anastomosis. The specimen was sent to pathology, reporting an acute inflammatory process with transmural necrosis and vascular congestion. Given these findings, abdominal CT angiography was performed, which reported a filling defect in the superior mesenteric vein, secondary to thrombosis that extended to the confluence and the portal vein. Conclusion: Mesenteric and portal venous thrombosis is a very rare pathology in young patients without risk factors in whom abdominal pain occurs. The diagnosis is complex because the clinical and laboratory data are not very specific. However, we must take it into account in the differential diagnosis of abdominal pain etiologies.

Obstrucción intestinal secundario a vólvulo de sigmoides en un paciente joven Reporte de un caso / Intestinal Obstruction Secondary to Sigmoid Volvulus in a Young Patient. Case report

Resumen El vólvulo de sigmoides ocurre como resultado de una torsión del eje mesentérico colónico, cuenta con una etiología multifactorial y controvertida, de fisiopatología no clara aún. Presenta un cuadro clínico de inicio inespecífico y posteriores signos y síntomas de oclusión intestinal; su diagnóstico se establece mediante tomografía computarizada, con una sensibilidad y especificidad mayor al 90%. El manejo dependerá de la condición clínica del paciente. Caso clínico: Hombre de 29 años con antecedente de síndrome de Asperger. Refirió que desde 7 días previos a su ingreso presentó dolor tipo cólico difuso, asociado a distensión abdominal e intolerancia a la vía oral. Acudió a valoración hospitalaria donde se realizóa tomografía computarizada con niveles hidroaéreos, torsión de arteria mesentérica inferior de aspecto de torbellino. Se realizó laparotomía exploradora a través de la cual se encontró sigmoides dilatado y volvulado, con perforación en la unión rectosigmoidea; se realizó sigmoidectomía con colorectoanastomosis. Al quinto día presentó datos de respuesta inflamatoria con abdomen agudo, por lo que ingresó a laparotomía exploradora donde se encontró dehiscencia de anastomosis; se realizó procedimiento de Hartmann. El paciente presentó choque séptico y falleció a las 24 horas del postquirúrgico. Discusión: La presentación de vólvulo sigmoides generalmente se presenta en personas mayores de 70 años, pocos casos se describen en personas jóvenes y están relacionados con enfermedad de dismotilidad intestinal. El paciente no contaba con factores predisponentes, el diagnóstico se estableció con imágenes características de la enfermedad, como la imagen en torbellino, se decidió manejo quirúrgico con la realización de resección con colorectoanastomosis. Conclusión: La oclusión intestinal por vólvulo sigmoides es una patología infrecuente en jóvenes y de clínica inespecífica. Ante un paciente que presente datos de oclusión intestinal deberá ser abordado de manera apropiada, sobre todo en pacientes en quienes hayan debutado con una clínica insidiosa y persistente de dolor abdominal secundario a oclusión intestinal, sean jóvenes con o sin factores de riesgo.

Abstract Sigmoid volvulus occurs due to a torsion of the colonic mesenteric axis, it has a multifactorial and controversial etiology, and its pathophysiology is not yet clear. Presenting a clinical picture of non-specific onset and later signs and symptoms of intestinal occlusion, its diagnosis is established with computed tomography with a sensitivity and specificity greater than 90%. Management will depend on the clinical condition of the patient. Clinical case: A 29-year-old man with a history of Asperger syndrome. He referred 7 days prior to admission with diffuse cramping pain, associated with abdominal distension and oral intolerance. He went to the hospital for evaluation where a computed tomography was performed with air-fluid levels, torsion of the inferior mesenteric artery with a whirlwind appearance. Exploratory laparotomy was performed, finding a dilated and volvulated sigmoid with perforation at the rectosigmoid junction. A sigmoidectomy with colorectal anastomosis was performed. On the fifth day, he presented data of inflammatory response with acute abdomen, entering exploratory laparotomy finding anastomosis dehiscence, Hartmann procedure was performed. The patient presented septic shock, died 24 hours after surgery. Discussion: The presentation of sigmoid volvulus generally occurs in people older than 70 years, few cases are described in young people and are related to intestinal dysmotility disease, the patient did not have predisposing factors, the diagnosis is established with characteristic images of the disease such as whirlwind image, surgical management is decided by performing resection with colorectal anastomosis. Conclusion: Intestinal occlusion due to sigmoid volvulus is an infrequent pathology in young people and with non-specific symptoms. When faced with a patient presenting evidence of intestinal occlusion, this should be appropriately addressed, especially in patients who have debuted with insidious and persistent symptoms of abdominal pain secondary to intestinal occlusion, whether they are young with or without risk factors.

Factores asociados a la adherencia al tratamiento farmacológico en pacientes con diabetes sin hipertensión arterial

Objetivo: Identificar los factores asociados a la adherencia al tratamiento farmacológico en pacientes con diabetes mellitus tipo 2 sin hipertensión arterial. Materiales y métodos: Estudio transversal y analítico en pacientes con diabetes mellitus tipo 2 sin hipertensión arterial. Se integraron el grupo con adherencia al tratamiento (n = 145) y el grupo sin adherencia al tratamiento (n = 49), determinado por la escala de adherencia a la medicación de Morisky de 4 ítems (MMAS-4). Como factores asociados, se estudiaron sexo, vida en pareja, escolaridad, ocupación, edad agrupada en decenios y tiempo de evolución de la diabetes agrupada en menos de un año, de 1 a 5 años, de 6 a 10 años y más de 10 años. El plan de análisis estadístico incluyó la prueba de ji al cuadrado. Resultados: Se identificaron el sexo (p = 0,045), la vida en pareja (p = 0,045), la edad (p = 0,001) y el tiempo de evolución de la enfermedad (p = 0,001) como factores asociados a la adherencia al tratamiento farmacológico. La escolaridad no se identificó como un factor asociado a la adherencia terapéutica en el paciente con diabetes mellitus tipo 2 (p = 0,289). A mayor edad, menor adherencia al tratamiento farmacológico en el paciente con diabetes: el punto de corte se presenta a los 60 años; después de esta edad, el porcentaje en el grupo no adherente es mayor que en el grupo con adherencia (p = 0,001). A mayor tiempo de evolución de la diabetes, menor probabilidad de adherencia; en el grupo no adherente, el porcentaje de pacientes con más de 10 años de evolución es 67,3 % y en el grupo con adherencia el porcentaje corresponde a 33,8 % (p = 0,001). Conclusiones: Se identificaron los factores asociados a la adherencia al tratamiento farmacológico en pacientes con diabetes mellitus tipo 2 sin hipertensión arterial.

Objective: To identify the factors associated with adherence to drug therapy among patients with type 2 diabetes mellitus without hypertension. Materials and methods: A cross-sectional, analytical study conducted with patients with type 2 diabetes mellitus without hypertension, divided into an adherent group (n = 145) and a non-adherent group (n = 49), determined by the 4-item Morisky Medication Adherence Scale (MMAS-4). The associated factors were sex, cohabitation, schooling, occupation, age in 10-year groups and diabetes progression time grouped in less than 1 year, from 1 to 5 years, from 6 to 10 years and more than 10 years. The statistical analysis plan included the chi-square test. Results: The factors associated with adherence to drug therapy were identified as sex (p = 0.045), cohabitation (p = 0.045), age (p = 0.001) and disease progression time (p = 0.001). Schooling was not identified as a factor associated with adherence to drug therapy among patients with type 2 diabetes mellitus (p = 0.289). The older the patient with diabetes, the lower the adherence to drug therapy; the cut-off point was 60 years of age, after which the percentage in the non-adherent group was higher than in the adherent group (p = 0.001). The longer the diabetes progression time, the lower the probability of adherence; in the non-adherent group the percentage of patients with more than 10 years of disease progression was 67.3 % and in the adherent group the percentage was 33.8 % (p = 0.001). Conclusions: The factors associated with adherence to drug therapy among patients with type 2 diabetes mellitus without hypertension were identified

Protein Markers of Diabetes Discovered in an African American Cohort.

Proteomics has been used to study type 2 diabetes, but the majority of available data are from White participants. Here, we extend prior work by analyzing a large cohort of self-identified African Americans in the Jackson Heart Study (n = 1,313). We found 325 proteins associated with incident diabetes after adjusting for age, sex, and sample batch (false discovery rate q < 0.05) measured using a single-stranded DNA aptamer affinity-based method on fasting plasma samples. A subset was independent of established markers of diabetes development pathways, such as adiposity, glycemia, and/or insulin resistance, suggesting potential novel biological processes associated with disease development. Thirty-six associations remained significant after additional adjustments for BMI, fasting plasma glucose, cholesterol levels, hypertension, statin use, and renal function. Twelve associations, including the top associations of complement factor H, formimidoyltransferase cyclodeaminase, serine/threonine-protein kinase 17B, and high-mobility group protein B1, were replicated in a meta-analysis of two self-identified White cohorts-the Framingham Heart Study and the Malmö Diet and Cancer Study-supporting the generalizability of these biomarkers. A selection of these diabetes-associated proteins also improved risk prediction. Thus, we uncovered both novel and broadly generalizable associations by studying a diverse population, providing a more complete understanding of the diabetes-associated proteome.

Documentando histórias: a carreira profissional de Milton Carlos Mariotti a partir do método da história de vida / Documenting histories: the professional career of Milton Carlos Mariotti using the life-history method

Resumo Compreender a história da terapia ocupacional no Brasil por meio das trajetórias individuais e coletivas é fundamental, tanto para o avanço da produção de conhecimentos quanto para a formação e desenvolvimento profissional no campo. Este artigo baseia-se na história de vida de Milton Carlos Mariotti, terapeuta ocupacional, Professor Sênior da Universidade Federal do Paraná (UFPR). Objetiva-se documentar sua narrativa profissional, o legado de sua liderança e seu compromisso ético com o desenvolvimento da profissão terapia ocupacional no Brasil. Para tanto, quatro docentes terapeutas ocupacionais reuniram-se para formular um roteiro de entrevista semiestruturada composto por 34 questões. A partir das respostas, organizou-se o texto em quatro eixos temáticos: 1) Formação acadêmica, 2) Atuação como terapeuta ocupacional, 3) Trajetória acadêmica e 4) Militância política. Apresenta-se como resultado uma narrativa histórica que documenta a história de vida profissional do professor e sua contribuição para a institucionalização da terapia ocupacional no Estado do Paraná, Sul do Brasil.

Abstract Understanding the history of occupational therapy in Brazil through individual and collective trajectories is fundamental, both for the advancement of knowledge production and for professional training and development in the field. This article is based on the life story of Milton Carlos Mariotti, occupational therapist, Senior Professor at the Federal University of Paraná (UFPR). The objective is to document his professional narrative, the legacy of his leadership and his ethical commitment to the development of occupational therapy in Brazil. For that, four occupational therapist professors got together to formulate a semi-structured interview script composed of 34 questions. Based on the responses, the text was organized into four thematic axes: 1) Educational background, 2) Work as an occupational therapist, 3) Academic trajectory and 4) Political militancy. As a result, a historical narrative is presented that documents the history of the teacher's professional life and his contribution to the institutionalization of occupational therapy in the State of Paraná, southern Brazil.

Occupational engagement: some assumptions to inform occupational therapy / Engajamento ocupacional: alguns pressupostos para informar a terapia ocupacional

Abstract Occupational engagement has been conflated with other concepts, such as participation, active occupational performance, and therapeutic engagement. This critical review will discuss occupational engagement as a unique concept that describes a form of involvement in doing that does not require performance and foregrounds the subjective-affective and cognitive experiences of doing. We present some attributes of occupational engagement and the implications for the lack of clarity of this concept within the literature. The difference between occupational engagement and therapeutic engagement is discussed by comparing the foundational tenets of the Model of Human Occupation (MOHO) and the Canadian Model of Occupational Performance and Engagement (CMOP-E). Through one illustrative narrative, we discuss how occupational engagement can be understood as a phenomenon that is not performance-dependent and has different levels of engagement. To conclude, we point out some assumptions about occupational engagement that can inform occupational therapy research and practice.

Resumo Engajamento ocupacional é um conceito que tem sido confundido com outros conceitos, como participação, desempenho ocupacional ativo e engajamento terapêutico. Esta revisão crítica discutirá o engajamento ocupacional como um conceito único que descreve uma forma de envolvimento no fazer que não requer desempenho e coloca em primeiro plano as experiências subjetivas-afetivas e cognitivas do fazer. Apresentamos alguns atributos do engajamento ocupacional e as implicações da falta de clareza desse conceito na literatura. A diferença entre engajamento ocupacional e engajamento terapêutico é discutida comparando os princípios fundamentais do Modelo de Ocupação Humana (MOHO) e o Modelo Canadense de Desempenho Ocupacional e Engajamento (CMOP-E). Por meio de uma narrativa ilustrativa, discutimos como o engajamento ocupacional pode ser entendido como um fenômeno que não depende do desempenho e possui diferentes níveis de engajamento. Para concluir, apontamos algumas questões sobre o engajamento ocupacional que podem orientar a pesquisa e a prática da terapia ocupacional.

Comparing and measuring the practice-based performance and competence of occupational therapy students between traditional and role emerging placements: a retrospective cohort study / Comparação entre o desempenho e competência de estudantes de terapia ocupacional em estágios tradicionais e não-tradicionais: um estudo retrospectivo

Abstract Introduction Increasingly occupational therapy programmes have complemented traditional practice placements with Role Emerging Placements (REPs) in settings with no existing occupational therapy provision. Previous research has predominantly explored the student experience of such placements with largely favorable findings. However, there is a lack of understanding regarding the professional practice-based skills students develop within REPs. Objective To measure and compare students' competencies for occupational therapy practice developed within Role Emerging Placements (REP) to those in 'traditional' practice placements. Method A retrospective cohort study design was used to analyze data extracted from the Competency Based Fieldwork Evaluation for Occupational Therapists (CBFE-OT) of MSc pre-registration occupational therapy UK students (n=181). Descriptive and inferential statistical analysis measured and compared student fieldwork competency scores between four placements, one of which was a Role Emerging Placement (REP). Results Students scored significantly higher in 'Communication' and 'Professional Interactions' compared to all other practice competencies but scored significantly less well in 'Clinical Reasoning' and 'Practice Knowledge' regardless of placement model. However, in a REP, students scored significantly higher in 'Performance Management' compared to traditional placements (z=-2.222 p=0.026). Conclusion Students can develop similar skills of competence to practise in a REP as traditional placements and may better develop leadership and time management skills. These additional skills may advantage students in developing their careers and scoping the profession.

Resumo Introdução Os cursos de graduação em terapia ocupacional têm crescentemente complementado os campos de prática tradicional dos estágios com modelos alternativos, nos quais não existem serviços de terapia ocupacional. Pesquisas anteriores exploraram predominantemente a experiência do aluno em tais estágios, com resultados amplamente favoráveis. No entanto, há uma lacuna de conhecimento sobre as habilidades profissionais que tais alunos desenvolvem a partir deste modelo alternativo de estágio. Objetivo Medir e comparar as competências dos alunos para a prática de terapia ocupacional, desenvolvida em modelos de estágios alternativos onde não existem serviços de terapia ocupacional, com os estágios tradicionais. Método Trata-se de um estudo retrospectivo no qual se analisou dados extraídos da avaliação "Competency Based Fieldwork Evaluation for Occupational Therapists (CBFE-OT)", utilizada para avaliar o desempenho de 181 alunos de terapia ocupacional de um curso de mestrado em uma universidade pública do Reino Unido. A análise estatística descritiva e inferencial mediu e comparou as pontuações de competência dos alunos em quatro estágios, em que um era o modelo alternativo, onde não havia oferta de serviços de terapia ocupacional. Resultados Os alunos obtiveram pontuações significativamente mais altas em 'Comunicação' e 'Interações profissionais', em comparação com todas as outras competências práticas, mas pontuaram significativamente menor em 'Raciocínio clínico' e 'Conhecimento prático', independentemente do modelo de estágio. No entanto, nos modelos de estágios alternativos, os alunos obtiveram pontuações significativamente mais altas em 'Gestão de desempenho' em comparação com os campos de estágio tradicionais (z = -2,222 p = 0,026). Conclusão Os alunos podem desenvolver habilidades de competência semelhantes para a prática a partir de modelos alternativos de estágio quando comparados com os estágios tradicionais, com melhor desenvolvimento nas habilidades de liderança e gerenciamento de tempo, favorável ao estágio alternativo. Essas habilidades adicionais podem beneficiar os alunos no desenvolvimento de suas carreiras e no escopo da profissão.

Síndrome de burnout en cirujanos generales en tiempos de la pandemia COVID-19

Objetivo: Evaluar el síndrome de burnout (SB) en cirujanos generales. Material y Método: Se realizó un estudio de corte transversal en nuestro centro hospitalario, en agosto de 2021. La muestra estuvo formada por 56 profesionales de la salud que incluyeron a residentes y especialistas en cirugia general quienes prestaron servicio en el contexto de la COVID-19. Resultados: La prevalencia del burnout fue del 71%, la edad media fue de 34 años y los residentes fueron los más afectados (62,5%). La distribución por sexo fue de 82,5% en masculinos y 17,5% en el sexo femenino. Del total de evaluados, 23 son casados y 17 solteros, predominando los cirujanos con hijos (60%). Discusión: Entre los pocos estudios publicados sobre el SB en trabajadores de la salud en tiempos de COVID-19 se ubican como posibles factores predisponentes: a las privaciones de sueño, el riesgo biológico ocupacional intrínseco, la cuarentena obligada a la que tienen que someterse los trabajadores de la salud fuera de casa y los dilemas éticos en la toma de decisiones de atención a pacientes. Sin embargo, un estudio ha mostrado que los estresores vinculados al SB más importantes son la falta de equipo de protección personal, el miedo al contagio de COVID-19 y el miedo de contagiar a los familiares. Conclusión: Existe una alta prevalencia del SB en cirujanos generales en el contexto de la pandemia COVID-19. Los más afectados fueron residentes jóvenes de sexo masculino, casados, con hijos y con bajos ingresos económicos.

Objective: To evaluate the burnout syndrome (BS) in general surgeons. Material and Method: A cross-sectional study was carried out in our hospital in August 2021. The sample consisted of 56 health professionals that included residents and specialists in general surgery who provided service in the context of COVID-19 Results: The prevalence of burnout was 71%, the mean age was 34 years and the residents were the most affected (62.5%). Sex was 82.5% in males and 17.5% in females. Of the total evaluated, 23 are married and 17 are single, with a predominance of surgeons with children (60%). Discussion: Among the few studies published on BS in health workers in times of COVID-19, the following are located as possible predisposing factors: sleep deprivation, intrinsic occupational biological risk, the forced quarantine that patients have to undergo. out-of-home health workers and ethical dilemmas in patient care decision-making. However, a study has shown that the most important stressors linked to BS are the lack of personal protective equipment, the fear of contagion of COVID-19 and the fear of infecting family members. Conclusion: There is a high prevalence of BS in general surgeons in the context of the COVID-19 pandemic. The most affected were young male residents, married, with children and with low income.

Iron(III)-Catalyzed Synthesis of 2-Alkyl Homoallyl Sulfonyl Amides: Antiproliferative Study and Reactivity Scope of Aza-Prins Cyclization.

A direct, catalytic, and complementary method to obtain 2-substituted homoallyl sulfonyl amides is described, starting from sulfonyl amides, aldehydes, and allyltrimethylsilane using iron(III) chloride as a sustainable catalyst. The scope of the process and the reactivity in aza-Prins cyclization is evaluated and supported by density functional theory (DFT) studies. Finally, an evaluation of the antiproliferative activity for this family of sulfonyl amides is also included.

Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.

Integrating genetic information with metabolomics has provided new insights into genes affecting human metabolism. However, gene-metabolite integration has been primarily studied in individuals of European Ancestry, limiting the opportunity to leverage genomic diversity for discovery. In addition, these analyses have principally involved known metabolites, with the majority of the profiled peaks left unannotated. Here, we perform a whole genome association study of 2,291 metabolite peaks (known and unknown features) in 2,466 Black individuals from the Jackson Heart Study. We identify 519 locus-metabolite associations for 427 metabolite peaks and validate our findings in two multi-ethnic cohorts. A significant proportion of these associations are in ancestry specific alleles including findings in APOE, TTR and CD36. We leverage tandem mass spectrometry to annotate unknown metabolites, providing new insight into hereditary diseases including transthyretin amyloidosis and sickle cell disease. Our integrative omics approach leverages genomic diversity to provide novel insights into diverse cardiometabolic diseases.

Atresia de coana unilateral: reporte de un caso pediátrico / Unilateral coana atresia. A pediatric case report

La atresia de coanas se caracteriza por la obliteración de la abertura nasal posterior. Es la anomalía congénita más frecuente de las fosas nasales. Tiene una incidencia de 1 cada 5000 a 7000 neonatos, con predominio en el sexo femenino. Puede presentarse en forma aislada o asociada a otros síndromes como el CHARGE (coloboma [C], malformaciones cardíacas [H], atresia de coanas [A], retraso psicomotor y/o en el crecimiento [R], hipoplasia de genitales [G], malformaciones auriculares y/o sordera [E, por su sigla en inglés]). Las manifestaciones clínicas son la obstrucción nasal, cianosis y dificultad respiratoria desde el nacimiento cuando es bilateral. Las atresias unilaterales se caracterizan por insuficiencia ventilatoria nasal y rinorrea unilateral, y pueden pasar inadvertidas. El diagnóstico se realiza mediante endoscopia y estudios por imágenes. El tratamiento es quirúrgico; existen diferentes técnicas y vías de abordaje. Se presenta el caso de un paciente masculino de 7 años con atresia unilateral de coana derecha con resolución microendoscópica, colocación de tutor externo, con buena resolución.

Choanal atresia is characterized by obliteration of the posterior nasal opening. It is the most common congenital anomaly of the nasal passages. It has an incidence of 1 in 5000 to 7000 newborns; predominantly female. It can occur in isolation or in association with other syndromes such as CHARGE (coloboma [C], cardiac malformations [H], choanal atresia [A], psychomotor and/or growth retardation [R], genital hypoplasia [G], atrial malformations and/or deafness [E]. Clinicallypresents nasal obstruction, cyanosis and respiratory distress from birth when bilateral, unilateral atresias are characterized by nasal ventilatory insufficiency and unilateral rhinorrhea, which may go unnoticed. Diagnosis is made by endoscopy and imaging tests. Treatment is surgical, with different techniques and approaches.A 7-year-old male patient is presented with unilateral atresia of the right choana with microendoscopic resolution, placement of an external tutor, with good resolution.

Brazilian practice guidelines for stroke rehabilitation: part II / Diretrizes brasileiras para reabilitação no acidente vascular cerebral: parte II

Abstract The Brazilian Practice Guidelines for Stroke Rehabilitation - Part II, developed by the Scientific Department of Neurological Rehabilitation of the Brazilian Academy of Neurology (Academia Brasileira de Neurologia, in Portuguese), focuses on specific rehabilitation techniques to aid recovery from impairment and disability after stroke. As in Part I, Part II is also based on recently available evidence from randomized controlled trials, systematic reviews, meta-analyses, and other guidelines. Part II covers disorders of communication, dysphagia, postural control and balance, ataxias, spasticity, upper limb rehabilitation, gait, cognition, unilateral spatial neglect, sensory impairments, home rehabilitation, medication adherence, palliative care, cerebrovascular events related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, the future of stroke rehabilitation, and stroke websites to support patients and caregivers. Our goal is to provide health professionals with more recent knowledge and recommendations for better rehabilitation care after stroke.

Resumo As Diretrizes Brasileiras de Reabilitação do Acidente Vascular Cerebral (AVC) - Parte II, desenvolvida pelo Departamento Científico de Reabilitação Neurológica da Academia Brasileira de Neurologia é voltada para intervenções específicas de técnicas de reabilitação de déficits neurológicos e incapacidades. Seguindo o mesmo modelo da Parte I, a Parte II também se baseia em estudos randomizados, revisões sistemáticas, metanálises e outras diretrizes sobre o mesmo tema. A segunda parte aborda os distúrbios da comunicação, disfagia, controle postural e equilíbrio, ataxias, espasticidade, reabilitação do membro superior, marcha, cognição, negligência espacial unilateral, déficits sensoriais, reabilitação domiciliar, aderênciaao usode medicamentos, cuidados paliativos,ofuturodareabilitação no AVC, e websites de orientação sobre AVC para pacientes e cuidadores. Nosso objetivo é fornecer aos profissionais envolvidos na reabilitação conhecimento atualizado e recomendações para um melhor cuidado no pós-AVC.

Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease.

BACKGROUND: Plasma proteins are critical mediators of cardiovascular processes and are the targets of many drugs. Previous efforts to characterize the genetic architecture of the plasma proteome have been limited by a focus on individuals of European descent and leveraged genotyping arrays and imputation. Here we describe whole genome sequence analysis of the plasma proteome in individuals with greater African ancestry, increasing our power to identify novel genetic determinants. METHODS: Proteomic profiling of 1301 proteins was performed in 1852 Black adults from the Jackson Heart Study using aptamer-based proteomics (SomaScan). Whole genome sequencing association analysis was ascertained for all variants with minor allele count ≥5. Results were validated using an alternative, antibody-based, proteomic platform (Olink) as well as replicated in the Multi-Ethnic Study of Atherosclerosis and the HERITAGE Family Study (Health, Risk Factors, Exercise Training and Genetics). RESULTS: We identify 569 genetic associations between 479 proteins and 438 unique genetic regions at a Bonferroni-adjusted significance level of 3.8×10-11. These associations include 114 novel locus-protein relationships and an additional 217 novel sentinel variant-protein relationships. Novel cardiovascular findings include new protein associations at the APOE gene locus including ZAP70 (sentinel single nucleotide polymorphism [SNP] rs7412-T, ß=0.61±0.05, P=3.27×10-30) and MMP-3 (ß=-0.60±0.05, P=1.67×10-32), as well as a completely novel pleiotropic locus at the HPX gene, associated with 9 proteins. Further, the associations suggest new mechanisms of genetically mediated cardiovascular disease linked to African ancestry; we identify a novel association between variants linked to APOL1-associated chronic kidney and heart disease and the protein CKAP2 (rs73885319-G, ß=0.34±0.04, P=1.34×10-17) as well as an association between ATTR amyloidosis and RBP4 levels in community-dwelling individuals without heart failure. CONCLUSIONS: Taken together, these results provide evidence for the functional importance of variants in non-European populations, and suggest new biological mechanisms for ancestry-specific determinants of lipids, coagulation, and myocardial function.

Prevalência de transtornos mentais comuns e fatores associados em estudantes de uma universidade pública brasileira / Prevalence of common mental disorders and associated factors in students of a Brazilian public university

Resumo Objetivo Os objetivos deste estudo foram descrever o perfil dos estudantes das áreas da saúde e exatas de uma universidade pública da região Centro-Oeste, determinar a prevalência de Transtornos Mentais Comuns (TMC) entre estes estudantes e verificar os fatores sociodemográficos e relacionadas ao curso associados a sua ocorrência no contexto da pandemia. Método Estudo transversal e de correlação realizado de maio a setembro de 2020 com uma amostra de 493 estudantes que responderam a um questionário eletrônico sobre as variáveis sociodemográficas e ao Self Reporting Questionnaire - SRQ 20. Foram realizadas análises descritivas das variáveis e de regressão logística por meio do Statiscal Package for Social Sciences (SPSS), versão 21.0. Foi adotado ponto de corte ≥7 no SRQ-20 para suspeição de TMC. Resultados A prevalência de TMC na população estudada foi de 66,1%. Na comparação entre os grupos (com ou sem TMC), as maiores taxas de prevalência estavam vinculadas ao sexo feminino (p<0,001) e estar em acompanhamento de saúde (p<0,001). A análise de regressão indicou como preditores significativos para TMC ser do sexo feminino (p<0,001) e estar em algum curso da área de exatas (p=0,050). Conclusão A alta prevalência de TMC demonstra a importância de programas de prevenção do sofrimento psíquico centrados nas necessidades dos acadêmicos, considerando o seu contexto e realidade vivida, buscando à promoção de saúde, bem-estar e o cuidado dos estudantes universitários.

Abstract Objective Describe the profile of students in the health and exact undergraduate courses of a public university in the Midwest region of Brazil, determine the prevalence of Common Mental Disorders (CMD) among these students, and verify the sociodemographic and course-related factors associated with their occurrence. Method A cross-sectional and relational study was carried out from May to September 2020 with a sample of 493 students who answered a survey on sociodemographic variables and the Self-reporting Questionnaire (SRQ 20). We conducted descriptive analyses of the variables and logistic regression, using the Statistical Package for Social Sciences (SPSS), version 21.0. A cutoff point ≥7 was adopted in the SRQ-20 for suspected CMD. Results The prevalence of CMD in the sample was 66.1%. Comparison between the groups (with or without CMD) showed that the highest prevalence rates were linked to the female gender (p<0.001) and undergoing health care treatment (p<0.001). Regression analysis indicated significant predictors for CMD being female (p<0.001) and being enrolled in exact science courses (p=0.050). Conclusion The high prevalence of CMD reinforces the need to invest in the creation of care spaces that pay special attention to women and exact sciences students, in addition to discussing student assistance policies aimed at promoting the health, well-being, and care of university students.

Occupational therapy interventions for adults with learning disabilities: evaluating referrals received pre and during the height of the COVID-19 pandemic / Intervenções da terapia ocupacional para adultos com dificuldades de aprendizagem: avaliando os encaminhamentos recebidos antes e durante o pico da pandemia pelo COVID-19

Abstract Introduction The COVID-19 pandemic has significantly impacted on service provision for adults who have a learning disability, resulting in reduced occupational activities, routine, and social contact. Objective To analyse referrals received for Occupational Therapy intervention for adults who have a learning disability pre-COVID-19 (2019) and during COVID-19 (2020). Method This is a descriptive study conducted as a service evaluation with an NHS Trust Clinical Effectiveness Team in a city in the North of England. The data source was obtained from referral documentation. Quantitative and qualitative data were extracted from a data Performa and analysed using descriptive statistics (mean, median, mode, and standard deviation) performed by the Software Microsoft Excel. Results The total number of cases used in this evaluation was 274. There was an increase in referrals during the COVID-19 pandemic, the greatest increase was for Occupational Therapy intervention focusing on engagement in meaningful occupation. Over both years the predominant referrals were for equipment reviews. Conclusion Data collected captures a broad range of information regarding Occupational Therapy service provision pre and during the COVID-19 pandemic and puts this in the context of future considerations regarding the Occupational Therapy services for adults who have a learning disability.

Resumo Introdução A pandemia de COVID-19 impactou significativamente na prestação de serviços para adultos com dificuldades de aprendizagem, resultando em atividades ocupacionais, rotina e contato social reduzidos. Objetivo Analisar os encaminhamentos recebidos para intervenção de terapia ocupacional para adultos com dificuldades de aprendizagem pré-COVID-19 (2019) e durante a COVID-19 (2020). Método Estudo descritivo realizado como avaliação de serviço com uma equipe de eficácia clínica do Serviço Nacional de Saúde, em uma cidade do norte da Inglaterra, Reino Unido. A fonte de dados foi obtida a partir da documentação de encaminhamentos. Os dados quantitativos e qualitativos foram extraídos de uma plataforma de dados e analisados ​​descritivamente em média, mediana, moda e desvio padrão, por meio do Software Microsoft Excel. Resultados O número total de casos utilizados nesta avaliação foi de duzentos e setenta e quatro (n=274). Identificou-se que houve um aumento de encaminhamentos durante a pandemia de COVID-19, sendo o maior para a intervenção de terapia ocupacional com foco no engajamento em ocupação significativa. Nos dois anos, os encaminhamentos predominantes foram para revisões de equipamentos. Conclusão Os dados coletados capturam uma ampla gama de informações sobre a prestação de serviços de terapia ocupacional pré e durante a pandemia de COVID-19. Tais informações subsidiam considerações futuras sobre os serviços de terapia ocupacional para adultos com dificuldades de aprendizagem.

Occupational participation, stress, anxiety and depression in workers and students from Brazilian universities during the COVID-19 pandemic / Participação ocupacional, estresse, ansiedade e depressão em trabalhadores e estudantes de universidades brasileiras durante a pandemia de COVID-19

Abstract Introduction The physical, social and occupational restrictions imposed by the COVID-19 pandemic have affected the health and well-being of the world population. Objective To identify the repercussions of the pandemic on the occupational participation of students, lecturers and technicians from three public universities in Northern Brazil, to compare the changes reported by participants in occupational participation before and during the pandemic, and to identify symptoms of depression, anxiety and stress self-reported. Method This is a Cross-sectional, descriptive and comparative study with a quantitative approach. One hundred and ninety-nine (n = 199) participants (students, lecturers and technicians) responded to an online questionnaire, the "Occupational Participation Checklist" and the Anxiety, Stress and Depression Scale (DASS-21). Data analysis were descriptive and also performed by applying the Wilcoxon and Mann-Whitney tests. Results During the pandemic, an increase in occupational participation was identified for all participants in domestic activities (p <0.001) and a decrease in work and study face to face (p <0.001). Students reported more symptoms of depression, anxiety and stress when compared to lecturers (p<0.001). Most students did not organise their time to fulfil their occupations with satisfaction. Such difficulties were associated with symptoms of depression, anxiety and stress, especially among the student's group (p<0.001). Conclusion This study provided preliminary evidence about differences in occupational participation before and during the Covid-19 pandemic. The organization of time and difficulties in occupational participation were associated to levels of anxiety, depression and stress, especially in the sample of students.

Resumo Introdução As restrições físicas, sociais e ocupacionais impostas pela pandemia de COVID-19 têm afetado a saúde, o bem-estar e a qualidade de vida da população mundial. Objetivo Identificar as repercussões da pandemia na participação ocupacional de estudantes, docentes e técnicos de três universidades públicas do Norte do Brasil, comparar as mudanças relatadas pelos participantes na participação ocupacional antes e durante a pandemia, e identificar sintomas de depressão, ansiedade e estresse. Método Estudo transversal, descritivo e comparativo com abordagem quantitativa. Cento e noventa e nove (n = 199) participantes (alunos, professores e técnicos), responderam (on-line) à "Lista de Verificação da Participação Ocupacional" e à Escala de Ansiedade, Estresse e Depressão (DASS-21). Realizou-se análise descritiva dos dados e aplicação dos testes de Wilcoxon e Mann-Whitney. Resultados Durante a pandemia, identificou-se aumento na participação ocupacional para todos os participantes nas atividades domésticas (p <0,001) e diminuição no trabalho ou estudos presenciais (p <0,001). Os alunos relataram mais sintomas de depressão, ansiedade e estresse em comparação com os professores (p<0,001). A maioria dos estudantes não organizou seu tempo para desempenhar, com satisfação, suas ocupações. Tais dificuldades foram associadas com sintomas de depressão, ansiedade e estresse, principalmente entre os estudantes (p <0,001). Conclusão Este estudo forneceu conclusões preliminares sobre as diferenças na participação ocupacional antes e durante a pandemia. A organização do tempo e as dificuldades no desempenho das ocupações foram relacionadas aos níveis de ansiedade, depressão e estresse, principalmente na amostra de estudantes.

Adaptação Transcultural do Instrumento the Short Child Occupational Profile (SCOPE) para o Português Brasileiro / Cross-Cultural Adaptation of the Assessment Tool the Short Child Occupational Profile (SCOPE) to Brazilian Portuguese

RESUMO: A avaliação em Terapia Ocupacional é o primeiro passo para determinar o caminho da intervenção e assegurar que o cliente tenha a maior participação ocupacional possível. O instrumento Te Short Child Occupational Profile (SCOPE) é uma ferramenta que possibilita avaliar sistematicamente fatores que facilitam ou restringem a participação nas ocupações de crianças e adolescentes, sendo esses fatores baseados no Modelo de Ocupação Humana (MOHO). O objetivo do presente artigo foi descrever o estudo metodológico da adaptação transcultural do SCOPE para o português brasileiro. Os procedimentos metodológicos envolveram a tradução do instrumento para o português e retrotradução para o inglês; análise de equivalências semântica, idiomática, conceitual e experiencial pelo Comitê de Especialistas; verificação de clareza e compreensão do instrumento mediante Pré-Teste para consolidação de versão final e aprovação pela principal autora do instrumento original. Os processos de tradução e de retrotradução apresentaram poucas discrepâncias entre os termos, obtendo boa resolutividade entre os tradutores para a elaboração da síntese. Todas as sugestões de alterações do Comitê de Especialistas foram analisadas e devidamente incorporadas na versão preliminar do instrumento, que, na etapa de Pré-Teste apresentou boa ou ótima compreensão das frases por parte dos participantes. A versão brasileira do SCOPE foi aprovada pela principal autora do instrumento original. Obteve-se êxito no processo de adaptação transcultural do instrumento de avaliação para o Brasil, atualmente intitulado Perfil Ocupacional Inicial da Criança e do Adolescente (SCOPE-Brasil), estando apto a passar por novos estudos para obtenção de medidas psicométricas de validação com a população brasileira.

ABSTRACT: Te Occupational Terapy evaluation is the first step in determining the intervention path and ensuring that the client has the greatest possible occupational participation. Te assessment Te Short Child Occupational Profile (SCOPE) is a tool that makes it possible to systematically assess factors that facilitate or restrict participation in the occupations of children and adolescents, and these factors are based on the Model of Human Occupation (MOHO). Te aim of the present study was to describe the methodological study of the cross-cultural adaptation of SCOPE to Brazilian Portuguese. Te methodological procedures involved the translation of the assessment into Portuguese and back-translation to English; analysis of semantic, idiomatic, conceptual and experiential equivalences by the Expert Committee; verification of clarity and understanding of the instrument through a Pre-Test to consolidate the final version and approval by the main author of the original assessment. Te translation and back-translation processes showed few discrepancies between the terms, obtaining good resolution among the translators for the preparation of the synthesis. All suggestions for changes by the Expert Committee were analyzed and duly incorporated into the preliminary version of the instrument, which, in the Pre-Test stage, showed good or excellent understanding of sentences by the participants. Te Brazilian version of SCOPE was approved by the main author of the original assessment. Success was achieved in the process of cross-cultural adaptation of the assessment tool for Brazil, currently entitled: Initial Occupational Profile of Children and Adolescents (SCOPE-Brasil), being able to undergo further studies to obtain psychometric validation measures with the Brazilian population.

The Effect of Water on the 2-Propanol Oxidation Activity of Co-Substituted LaFe1- Cox O3 Perovskites.

Perovskites are interesting oxidation catalysts due to their chemical flexibility enabling the tuning of several properties. In this work, we synthesized LaFe1-x Cox O3 catalysts by co-precipitation and thermal decomposition, characterized them thoroughly and studied their 2-propanol oxidation activity under dry and wet conditions to bridge the knowledge gap between gas and liquid phase reactions. Transient tests showed a highly active, unstable low-temperature (LT) reaction channel in conversion profiles and a stable, less-active high-temperature (HT) channel. Cobalt incorporation had a positive effect on the activity. The effect of water was negative on the LT channel, whereas the HT channel activity was boosted for x>0.15. The boost may originate from a slower deactivation rate of the Co3+ sites under wet conditions and a higher amount of hydroxide species on the surface comparing wet to dry feeds. Water addition resulted in a slower deactivation for Co-rich catalysts and higher activity in the HT channel state.