Prevalencia de depresión en estudiantes de Facultad de Medicina de la Udelar en el año 2022 / Prevalence of depression in students of the Faculty of Medicine of the Udelar in 2022

La depresión es un trastorno primario del estado de ánimo que afecta el funcionamiento global de las personas. Los adultos jóvenes que ingresan a la educación superior, y en particular los estudiantes de medicina, se enfrentan a estresores que pueden conducir al padecimiento de esta patología. Revisiones sistemáticas reportan una prevalencia de depresión en estudiantes de medicina del 27 % al 30 %. El objetivo del estudio fue determinar la prevalencia de depresión en una muestra de estudiantes, describir sus características y analizar asociaciones entre variables. Se difundió una encuesta electrónica que incluía el Test de Beck II. Los datos fueron analizados con el cálculo de Chi Cuadrado y la medida de asociación elegida fue el odds ratio. Los resultados estadísticamente significativos fueron incluidos en un modelo de regresión múltiple. Se evidenció una prevalencia de depresión del 64,2 %, siendo un 20,3 % depresión leve, 24,5 % moderada y 19,4 % severa. Pertenecer al sexo femenino, estar cursando el primer trienio de la carrera, consumir psicofármacos y estar disconforme con el rendimiento académico aumentaron las probabilidades de alcanzar puntajes congruentes con depresión. Se concluye la necesidad de desarrollar investigación multicéntrica y de contar con intervenciones en salud enfocadas en la prevención no medicalizadora específicas para este grupo humano.

Depression is a primary mood disorder with an effect on global functioning. Young adults starting university and medical students in particular, face stressors which can lead to the development of this disease. Systematic reviews report 27 to 30 % depression prevalence in medical students. The aim of this study was the determination of depression prevalence in a student sample, description of features and analysis of associations between variables. An electronic survey including Beck's II scale was provided. Data was analyzed calculating Square Chi, and odds ratio was the chosen association. Statistically significant results were included in a multiple regression model. Depression prevalence was 64.2 %. 20.3 % corresponded to mild depression, 24.5 % to moderate depression and 19.4 to severe one. The probability of getting depression congruent scores increased for females, students of the first three years, psychophar- macological drug use, and dissatisfaction with academic performance. A need for multicentric research and health interventions focusing on non medicalized prevention becomes evident.

The link between cognitive and affective empathy and interpersonal emotion regulation direction and strategies.

Interpersonal emotion regulation (ER) refers to the different processes aimed at changing the emotional states of others. Some authors have speculated about the pivotal role of empathy for interpersonal ER to happen. However, the very limited empirical evidence suggests that only cognitive empathy as opposed to affective empathy may be a necessary antecedent. As previous research only considered interpersonal affect improvement and showed mixed evidence for the regulation strategies, we aimed to address this gap in the current research. To that aim, 374 adults (M = 30.3 years, 249 female) reported their tendency to engage in cognitive (perspective-taking) and affective empathy (empathic concern and personal distress) as well as their tendency to improve and worsen others' mood, and to use different regulation strategies (situation modification, attention deployment, cognitive change, and modulation of the emotional response) to change others' feelings. Results of the regression analyses showed that while affect improvement was not significantly predicted by any of the empathy variables, affect worsening was positively predicted by personal distress. Concerning the regulation strategies, while cognitive change and situation modification were positively predicted by personal distress, attention deployment was positively predicted by perspective-taking. Overall, the obtained results highlight the need to further investigate the link between empathy and ER and to carefully consider the methods selected for that purpose.

Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.

Human ALG2 encodes an α 1,3mannosyltransferase that catalyzes the first steps in the synthesis of N-glycans in the endoplasmic reticulum. Variants in ALG2cause a congenital disorder of glycosylation (CDG) known as ALG2-CDG. Up to date, nine ALG2-CDG patients have been reported worldwide. ALG2-CDG is a rare autosomal recessive inherited disorder characterized by neurological involvement, convulsive syndrome of unknown origin, axial hypotonia, and mental and motor regression. In this study, we used MALDI-TOF MS to define both total serum protein and transferrin (Tf) N-glycan phenotypes in three ALG2-CDG patients carrying a c.752G > T, p.Arg251Leu ALG2 missense variant in homozygous state, as determined by exome sequencing. Comparing it to control samples, we have observed Tf under-occupancy of glycosylation site(s) typical of a defective N-glycan assembly and the occurrence of oligomannose and hybrid type N-glycans. Moreover, we have observed a slight oligomannose accumulation in total serum glyco-profiles. The increased heterogeneity of serum N-glycome in the studied patients suggests a marginal disarrangement of the glycan processing in ALG2-CDG. Previous studies reported on slightly increased concentrations of abnormal serum N-glycans in CDG-I due to defects in the mannosylation steps of dolichol-linked oligosaccharide biosynthesis. This preliminary work aims at considering serum N-glycan accumulation of high mannosylated glycoforms, such as oligomannose and hybrid type N-glycans, as potential diagnostic signals for ALG2-CDG patients.

La sexualidad en entredicho: nuevas negociaciones del significado de ser mujer en el deporte de alto rendimiento / Sexualidade sob suspeita: novas negociações do significado de ser mulher no esporte de alto desempenho / Sexuality in question: new negotiations of the meaning of being a woman in high performance sports

Resumen: Esta investigación tiene como objetivos, por un lado, explorar las percepciones de las deportistas acerca de cómo son evaluadas por su entorno social con relación a la feminidad y a su orientación sexual por su vinculación con una práctica deportiva de alto rendimiento. Por otro, analizar la visibilidad y aceptación de la homosexualidad en el contexto deportivo tanto por las deportistas como por los agentes sociales que las rodean. La metodología fue de tipo cualitativo. Se llevaron a cabo cinco grupos focales en los que participaron 46 mujeres practicantes de futbol sala, balonmano, voleibol, atletismo y natación. Los resultados muestran que las deportistas presentan un discurso de resistencia frente al estereotipo de marimacho-lesbiana que, comprobamos, continúa vigente en el imaginario colectivo. A pesar de que se perciben avances sociales en este sentido, la homosexualidad sigue estigmatizada y aún persisten formas de rechazo cognitivo-afectivo en parte de la sociedad española.

Resumo: Esta pesquisa tem como objetivo, por um lado, explorar as percepções das atletas sobre como são avaliadas pelo seu ambiente social em relação à feminilidade e sua orientação sexual, para vincular-se a uma prática esportiva de alto desempenho e, por outro, analisar a visibilidade e aceitação da homossexualidade no contexto esportivo, tanto pelos atletas como pelos agentes sociais ao seu redor. A metodologia foi qualitativa. Foram feitos cinco grupos focais nos quais participaram 46 mulheres praticando futsal, handebol, vôlei, atletismo e natação. Os resultados mostram que as atletas apresentam um discurso de resistência contra o estereótipo da "Maria-João" o "sapatão" que, verificamos, ainda está em vigor na imaginação coletiva. Embora os avanços sociais sejam percebidos nesse sentido, a homossexualidade permanece estigmatizada e ainda persistem as formas de rejeição cognitivo-afetiva em parte da sociedade espanhola.

Abstract: On the one hand, this research aims to explore the perceptions of women practicing high-performance sports about how they are viewed by their social environment in terms of their femininity and sexual orientation. On the other hand, it analyzes the visibility and acceptance of homosexuality in the sports context by both athletes and the social agents surrounding them. The research methodology was qualitative, with five focus groups including 46 women who practiced futsal, handball, volleyball, athletics and swimming. Results show that they present a resistance-oriented discourse against butch-lesbian stereotypes that, as we prove, are still present in collective imagination. Despite social advances perceived in this regard, homosexuality remains stigmatized and forms of cognitive-affective rejection persist in part of Spanish society.

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

OBJECTIVE: To describe the clinical, biochemical, and genetic features of patients with congenital disorders of glycosylation (CDG) identified in Spain during the last 20 years. STUDY DESIGN: Patients were selected among those presenting with multisystem disease of unknown etiology. The isoforms of transferrin and of ApoC3 and dolichols were analyzed in serum; phosphomannomutase and mannosephosphate isomerase activities were measured in fibroblasts. Conventional or massive parallel sequencing (customized panel or Illumina Clinical-Exome Sequencing TruSight One Gene Panel) was used to identify genes and mutations. RESULTS: Ninety-seven patients were diagnosed with 18 different CDG. Eighty-nine patients had a type 1 transferrin profile; 8 patients had a type 2 transferrin profile, with 6 of them showing an alteration in the ApoC3 isoform profile. A total of 75% of the patients had PMM2-CDG presenting with a heterogeneous mutational spectrum. The remaining patients showed mutations in any of the following genes: MPI, PGM1, GFPT1, SRD5A3, DOLK, DPGAT1, ALG1, ALG6, RFT1, SSR4, B4GALT1, DPM1, COG6, COG7, COG8, ATP6V0A2, and CCDC115. CONCLUSION: Based on literature and on this population-based study of CDG, a comprehensive scheme including reported clinical signs of CDG is offered, which will hopefully reduce the timeframe from clinical suspicion to genetic confirmation. The different defects of CDG identified in Spain have contributed to expand the knowledge of CDG worldwide. A predominance of PMM2 deficiency was detected, with 5 novel PMM2 mutations being described.

Isolated and Combined Remethylation Disorders: Biochemical and Genetic Diagnosis and Pathophysiology

Abstract Genetic defects affecting the remethylation pathway cause hyperhomocysteinemia. Isolated remethylation defects are caused by mutations of the 5, 10-methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase(MTRR), methionine synthase(MTR), and MMADHC genes, and combined remethylation defects are the result of mutations in genes involved in the synthesis of either methylcobalamin or adenosylcobalamin, that is, the active cofactors of MTRR and methylmalonyl-CoA mutase. Diagnosis is based on the biochemical analysis of amino acids, homocysteine, propionylcarnitine, methylmalonic acid, S-adenosylmethionine, and 5-methylentetrahydrofolate in physiological fluids. Gene-by-gene Sanger sequencing has long been the gold standard genetic analysis for confirming the disorder and identifying the gene involved, but massive parallel sequencing is now being used to examine all those potentially involved in one go. Early treatment to rescue metabolic homeostasis is based on the following of an appropriate diet, betaine administration, and, in some cases, oral or intramuscular administration of vitamin B12 or folate. Elevated ROS levels, apoptosis, endoplasmic reticulum (ER) stress, the activation of autophagy, and alterations in Ca2+ homeostasis may all contribute toward the pathogenesis of the disease. Pharmacological agents to restore the function of the ER and mitochondria and/or to reduce oxidative stress-induced apoptosis might provide novel ways of treating patients with remethylation disorders.

Insertion of Isocyanides into N-Si Bonds: Multicomponent Reactions with Azines Leading to Potent Antiparasitic Compounds.

Trimethylsilyl chloride is an efficient activating agent for azines in isocyanide-based reactions, which then proceed through a key insertion of the isocyanide into a N-Si bond. The reaction is initiated by N activation of the azine, followed by nucleophilic attack of an isocyanide in a Reissert-type process. Finally, a second equivalent of the same or a different isocyanide inserts into the N-Si bond leading to the final adduct. The use of distinct nucleophiles leads to a variety of α-substituted dihydroazines after a selective cascade process. Based on computational studies, a mechanistic hypothesis for the course of these reactions was proposed. The resulting products exhibit significant activity against Trypanosoma brucei and T. cruzi, featuring favorable drug-like properties and safety profiles.

Causas de no apego a un programa de recuperación nutricional / Causes of not adhering to a nutritional program

Introducción: Los programas nutricionales buscan prevenir y disminuir la desnutrición, a pesar de ello, existe una proporción de población beneficiada que los abandona. Objetivo: Identificar las principales causas de atraso o deserción de niños/as menores de 5 años ingresados al Programa Alimentario Nutricional Integral (PANI) en el distrito de Villa Hayes, Departamento de Presidente Hayes. Materiales y Métodos: Estudio transversal, observacional y descriptivo, en <5 años ingresados al PANI, en Centros de Salud de José Falcón y Remansito. Fueron estudiados: datos sociodemográficos, situación nutricional según OMS, causas de atraso o abandono del programa. Resultados: La mediana edad al ingreso fue 18,5 meses, 47,7%(n=41) fueron varones. Al ingreso, 36%(n=31) presentó desnutrición global (puntaje zPeso/Edad<-2DE), 8,1%(n=7) desnutrición aguda (puntaje zPeso/Talla<-2DE), 32,6%(n=28) tenía desnutrición crónica (puntaje zTalla/Edad<-2DE). El tiempo promedio de atraso fue 1 mes y se dio desde el 4° control mayoritariamente. La mediana de tiempo del abandono fue de 5 meses. Hubo mejoría de promedios al ingreso y último control previo al atraso o abandono en zPeso/Talla (-1,22±1,38DEvs-0,34±1,15DE, Student p=0,001) y zPeso/Edad (-1,22±2,01 vs -0,81±1,76DE, Student p=0,001); y del porcentaje de desnutrición global (36% vs 16%, ²p=0,002) y de riesgo de desnutrición (51%vs35%,²=0,04). El 56%(n=48) de causas de abandono y atraso fueron de índole social/estructural: "distancia" (n=33), "suspensión por personal de salud" (n=18) y "falta de personal" (n=5). Entre los motivos personales (44%) se citan las causas "laborales" (n=22), "por salud" (n=13) y "desinterés" (n=10). Conclusiones: Las principales causas de abandono o atraso tienen que ver con la distancia hasta el servicio de salud y deficiencias o flexibilidad del esquema de atención. La mitad de niños al momento de la deserción, presentaba mejoría nutricional. Palabras clave: Programa nutricional, desnutrición, atraso, abandono.

Switching hemispheres: a new migration strategy for the disjunct Argentinean breeding population of Barn Swallow (Hirundo rustica).

BACKGROUND: Barn Swallows (Hirundo rustica) breed almost exclusively in the Northern Hemisphere. However, since the early 1980's, a small disjunct breeding population has become established in eastern Argentina, presumably by birds previously derived from those breeding in North America. Currently, it is unknown where these individuals go following breeding and how they have adjusted to a reversal in phenology. Their austral wintering period corresponds to the breeding period of the northern ancestral population and so they can potentially return to these more traditional breeding sites or they may occupy other South American wintering regions left vacant by conspecifics returning to the Northern Hemisphere. PRINCIPAL FINDINGS: We used a three-isotope (δ(13)C, δ(15)N, δ(2)H) approach to investigate potential wintering areas in Central and South America of individuals breeding in Argentina. Feather isotope values differed from those expected and measured at local breeding sites in Argentina indicating molt after the austral breeding period and away from the breeding grounds. Potential molting origins were identified applying likelihood-based assignment methods to a δ(2)H isoscape for South America and dichotomous prior information on the distribution of C3 and C4 vegetation types based on modeled vegetation-δ(13)C values. Barn Swallows now breeding in Argentina have changed their migratory behavior but presumably use the same cues as those used by the ancestral population, molting their feathers during the austral winter, likely in north-eastern South America.

Disposición farmacocinética de las especies de antimonio en perros después de una dosis de antimoniato de meglumina (Glucantime®) / Pharmacokinetic disposition of antimony species in dogs after a dose of meglumine antimonite (Glucantime®)

Se estudiaron los parámetros farmacocinéticos de las especies de antimonio (pentavalente y trivalente) presentes en el antimoniato de meglumina (Glucantime®), en cuatro perros sanos, después de la administración subcutánea de una dosis única de 90 mg/kg-1. Las muestras sanguíneas fueron analizadas por espectroscopia de absorción atómica. Después de la administración de Glucantime®, el antimonio pentavalente mostró un decaimiento en dos fases, la vida media de eliminación fue de 13,18 h, el volumen aparente de distribución de 30,65 Lkg-1, el área bajo la curva (0-24h) 48,25 μg. h mL-1 y el área bajo la curva (0-∞) μg.h mL-1. Mientras que el antimonio trivalente mostró una fase bien distinguida, con una vida media de eliminación de 16,10 h, un volumen aparente de distribución de 126,5 Lkg-1, valores de el área bajo la curva (0-24h) 10,35 μg.h L-1 y el área bajo la curva (0-∞) 7,35 μg.h mL-1. El porcentaje de conversión sistémica de antimonio pentavalente hacia antimonio trivalente a las 24 horas fue de 23,62%. A pesar del reducido tamaño de la muestra, los resultados obtenidos presentan desigualdad en la farmacocinética de las especies de antimonio en perros, estas podrían explicar, al menos parcialmente, las diferencias en la eficacia terapéutica atribuidas a las especies por separado.

[Diagnosis and treatment of methylmalonic aciduria: a case report]. / Diagnóstico y tratamiento de la aciduria metilmalónica: a propósito de un caso.

The methylmalonic aciduria is an organic acidemia, inherited as autosomic recessive trait, caused by a deficiency of the methylmalonyl-CoA mutase, or by defects in the biosynthesis of the cofactor adenosylcobalamin. Regarding the enzymatic defect, there are two forms: mut(o) with no detectable enzymatic activity and mut(-) with reduced activity. Its clinical presentation may vary from a severe neonatal form with acidosis and death, up to a progressive chronic form. Here we describe the case of a four year-old boy, with diagnosis of methylmalonyl-CoA mutase deficiency type mut(-) with an acute presentation. Molecular analysis of MUT gene identified two mutations c.607G>A (G203R) and c.2080C>T (R694W), later confirmed in the parents. The aim of this report is to highlight the importance of including the organic acid analysis in urine among the first line exams in acutely and severely ill children with undefined etiology. The definitive diagnosis is important because it may allow a specific treatment and a favorable evolution to prevent the secuelae.

Diagnóstico y tratamiento de la aciduria metilmalónica: a propósito de un caso / Diagnosis and treatment of methylmalonic aciduria: a case report

La aciduria metilmalónica es una acidemia orgánica, autosómica recesiva, causada por la deficiencia de la metilmalonil CoA-mutasa, o por defectos en la biosíntesis del cofactor adenosilcobalamina. Del defecto enzimático, existen dos formas: mut (o) sin actividad enzimática y mut (-) con actividad reducida. Su presentación clínica puede variar desde una forma neonatal grave con acidosis y muerte, hasta una forma crónica progresiva. A continuación se describe el caso de un niño de 4 años de edad, con deficiencia de metilmalonil-CoA mutasa tipo mut (-), que se presentó en forma aguda. El estudio molecular del gen MUT mostró 2 mutaciones c.607G>A (G203R) y c.2080C > T(R694W), confirmadas posteriormente en los padres. El objetivo de este reporte es destacar la importancia de indicar el análisis de ácidos orgánicos en orina entre los estudios de primera línea, en todo niño con un cuadro clínico de presentación aguda y severamente enfermo, sin etiología definida. Por otra parte, se desea resaltar que el diagnóstico oportuno y definitivo es importante ya que permite iniciar un tratamiento específico, lograr una evolución favorable y prevenir las secuelas.

Pharmacokinetics of experimental pentavalent antimony after intramuscular administration in adult volunteers.

BACKGROUND: Pentavalent antimony (SbV) has demonstrated therapeuticeffectiveness against clinical manifestations of leishmaniasis, an infection caused by Leishmania, a genus of flagellate protozoa comprising parasites of worldwide distribution. Approximately 1.8 million new cases are reported annually. OBJECTIVE: The aim of this study was to assess the pharmacokinetics of the investigational generic SbV, Ulamina (pentachloride of antimony + N-methylglucamine), in healthy adult volunteers. METHODS: In this study, SbV was administered IM as a single 5-mg/kg dose.Blood samples were collected at 0.25, 0.75, 1, 2, 4, 8, 12, and 24 hours after administration; urine samples were collected at 6-hour intervals during the 24-hour postadministration period. Determination of trivalent antimony, SbV, and total antimony concentrations in blood and urine samples was carried out using atomic absorption spectrometry. Clinical history was reviewed and the subjects were monitored before and after administration of SbV using physical examination, weight, and hepatic- and renal-function studies. The pharmacokinetic parameters calculated were Cmax, Tmax, absorption constant (Ka), elimination constant (Kel), AUC2-24h, AUC0-∞, elimination phase (t½ß), volume of distribution (Vd), and urinary excretion rate. RESULTS: Five subjects (3 men, 2 women; mean age, 28 years [range, 18-34 years]) were included in the study. One hour after drug administration the following values were obtained: Cmax, 1.1 µg/mL; Tmax, 1.3 hours; Ka, 1.87 hours; Kel, 0.043 hours; AUC0-24h, 12.26 µg/mL · h; AUC0-∞, 19.84 µg/mL · h; t½ß, 17.45 hours; Vd, 6.6 L/kg; and urinary excretion rate, 2.8 µg/h; these were mean values for the entire study group. The single dose was well tolerated by all subjects. CONCLUSIONS: The investigational generic SbV, Ulamina, was associated with linearelimination after IM administration of a single 5-mg/kg dose. A 2-compartment pharmacokinetic model was observed in these volunteers; the mean t½ß, was 17.45 hours and the mean Vd was 6.6 L/kg.