ABSTRACT: The study of genotypic relationships between drought tolerance indices and agronomic traits of interest in wheat breeding is useful for designing selection strategies. The objective of this research was to investigate the cause-and-effect relationships between agronomic traits and drought tolerance indices through the analysis of canonical correlations. Two trials (control and stress) were conducted in winter 2020 in Viçosa, MG, Brazil. The traits evaluated were: (days for heading, plant height, mass and number of grains per spike, mass of one hundred grains, and grain yield). Grain yield data from the control and stress conditions were used to construct five drought tolerance indices. The data were subjected to mixed model analysis for estimation of genetic parameters and prediction of genotypic values (REML/BLUP), and then the genotypic values were used to calculate the correlation coefficients between the traits. Two groups of traits were established for the study of canonical correlations, the first group consisting of agronomic traits and the second by drought tolerance indices. There was a significant genotype effect for all evaluated traits. The canonical pairs were significant, which indicated the existence of dependence between the groups. Days to heading trait can be used in the indirect selection of wheat genotypes for drought tolerance. ABSTRACT strategies causeandeffect cause correlations 202 Viçosa MG Brazil days height spike yield. . yield) REML/BLUP, REMLBLUP REML/BLUP , REML BLUP (REML/BLUP) 20 (REML/BLUP 2

RESUMO: O estudo das relações genotípicas entre índices de tolerância à seca e caracteres agronômicos de interesse no melhoramento de trigo é útil para traçar estratégias de seleção. Objetivou-se com este trabalho investigar as relações de causa e efeito entre características agronômicas e índices de tolerância à seca via análise de correlações canônicas. Dois ensaios (controle e estresse) foram conduzidos no inverno de 2020 em Viçosa, MG, Brasil. Foram avaliados os caracteres (dias para o espigamento, altura da planta, massa e número de grãos por espiga, massa de cem grãos e rendimento de grãos). Os dados de produtividade dos ensaios de controle e estresse foram utilizados para construir cinco índices de tolerância à seca. Os dados foram submetidos à análise de modelos mistos para estimação dos parâmetros genéticos e predição dos valores genotípicos (REML/BLUP), em seguida, os valores genotípicos foram utilizados para calcular os coeficientes de correlação entre os caracteres. Dois grupos de caracteres foram estabelecidos para o estudo das correlações canônicas, sendo o primeiro grupo constituído pelas variáveis agronômicas e o segundo pelos índices de tolerância à seca. Houve efeito significativo de genótipo para todas as características avaliadas. Os pares canônicos foram significativos, o que indicou a existência de dependência entre os grupos. O caráter dias para o espigamento pode ser utilizado na seleção indireta de genótipos de trigo para tolerância à seca. RESUMO Objetivouse Objetivou se canônicas 202 Viçosa MG Brasil planta espiga grãos. . grãos) REML/BLUP, REMLBLUP REML/BLUP , REML BLUP (REML/BLUP) seguida avaliadas significativos 20 (REML/BLUP 2

RESUMO Objetivo: Descrever as características epidemiológicas de pacientes pediátricos com doença falciforme (DF) e avaliar o uso de plantas medicinais concomitantemente ao tratamento medicamentoso. Métodos: Realizou-se revisão de prontuários de pacientes pediátricos de uma instituição pública com nível de atendimento terciário; o critério de seleção foi ser criança ou adolescente com DF em acompanhamento pediátrico neste ambulatório. Nos prontuários dos pacientes selecionados foi procurado o registro do uso de plantas com finalidades medicinais. Resultados: Foram revisados 154 prontuários (100% dos pacientes ativos desse ambulatório): 99 crianças e 55 adolescentes. O genótipo predominante foi SS (58,4%), seguido do SC (29,2%). O uso de ao menos uma medicação para a DF foi relatada em 95,5% dos prontuários. Em 70,1% dos prontuários havia o relato do uso de plantas medicinais, em 276 citações, sendo 64 plantas citadas ao todo; destas, seis espécies foram citadas para o tratamento da doença de base (DF), sendo “ora-pro-nobis” (Pereskia aculeata) a principal. Das 276 citações de plantas medicinais nos prontuários, 60,5% incluíram o uso de plantas medicinais em sintomas gripais e/ou COVID-19 (tanto prevenção quanto tratamento), sendo relatadas 35 para este uso, exclusivamente ou não. Essa foi a principal finalidade de uso encontrada nos prontuários dos pacientes, seguida do uso para sintomas de dor (14,2% das citações). Conclusões: Notou-se que a maioria dos pacientes avaliados faz uso da medicina convencional, aliada à tradicional/ complementar/ alternativa, o que leva à necessidade de mais estudos nessas áreas, especialmente na pediatria, visando principalmente à segurança do paciente. Objetivo (DF medicamentoso Métodos Realizouse Realizou se terciário ambulatório Resultados 15 100% 100 (100 ambulatório) 9 5 adolescentes 58,4%, 584 58,4% , 58 4 (58,4%) 29,2%. 292 29,2% . 29 2 (29,2%) 955 95 95,5 701 70 1 70,1 27 6 todo destas DF, orapronobis ora pro nobis “ora-pro-nobis Pereskia aculeata 605 60 60,5 eou COVID19 COVID 19 COVID-1 tanto tratamento, tratamento) 3 não 14,2% 142 14 (14,2 citações. citações) Conclusões Notouse Notou convencional tradicional complementar alternativa áreas pediatria paciente 10 (10 58,4 (58,4% 29,2 (29,2% 95, 7 70, 60, COVID1 COVID- 14,2 (14, (1 58, (58,4 29, (29,2 14, (14 ( (58, (29, (58 (29 (5 (2

ABSTRACT Objective: The aim of this study was to describe the epidemiological characteristics of pediatric patients with sickle cell disease (SCD) and evaluate the use of medicinal plants in these patients concomitantly with their drug treatment. Methods: This is a review of the medical records of pediatric patients at a public institution with tertiary care. The selection criterion was to be a child or adolescent with SCD undergoing pediatric follow-up at this outpatient clinic. In the medical records of the patients selected, records of the use of plants for medicinal purposes were sought. Results: In total, 154 records (100% of total active patients followed in this clinic) were reviewed: 99 children and 55 adolescents. The predominant genotype was SS (58.4%), followed by SC (29.2%). The use of at least one medication for SCD was reported in 95.5% of the medical records. The use of medicinal plants was reported by 70.1% of patients, with 276 citations in the medical records referring to 64 different types of plants. Six plants were used for the treatment of SCD, the main one being Lemonvine/Ora-pro-nóbis (Pereskia aculeata). The use of medicinal plants was reported for flu-like symptoms and/or COVID-19 (both for prevention and treatment) by 60.5% of the citations, with 35 different plants reported for this use, exclusively or not. This use was followed by pain symptoms (14.2% of citations). Conclusions: The majority of patients in this study use both conventional and traditional/complementary/alternative medicine, highlighting the need for more studies in the area, with a special focus on patient safety. Objective (SCD Methods care followup follow up clinic selected sought Results 15 100% 100 (100 reviewed 9 5 adolescents 58.4%, 584 58.4% , 58 4 (58.4%) 29.2%. 292 29.2% . 29 2 (29.2%) 955 95 95.5 701 70 1 70.1 27 6 Lemonvine/Orapronóbis LemonvineOrapronóbis Lemonvine/Ora pro nóbis Lemonvine Ora Pereskia aculeata. aculeata aculeata) flulike flu like andor COVID19 COVID 19 COVID-1 605 60 60.5 3 not 14.2% 142 14 (14.2 citations. citations) Conclusions traditionalcomplementaryalternative traditional complementary alternative medicine area safety 10 (10 58.4 (58.4% 29.2 (29.2% 95. 7 70. Orapronóbis LemonvineOra COVID1 COVID- 60. 14.2 (14. (1 58. (58.4 29. (29.2 14. (14 ( (58. (29. (58 (29 (5 (2

RESUMO Objetivo: O objetivo deste estudo foi realizar a correlação genótipo-fenótipo entre os resultados de cariótipos e as alterações neurológicas e psiquiátricas apresentadas em pacientes com síndrome de Turner (ST). Métodos: Um estudo retrospectivo foi conduzido nos registros médicos de 10/140 pacientes com ST e deficiências neuropsicológicas atendidos pelo Serviço de Genética Clínica de um hospital do sul do Brasil. Ademais, uma revisão foi realizada pelas plataformas científicas PubMed e Biblioteca Virtual em Saúde (BVS) de artigos publicados entre 1o de janeiro de 2012 e 1o de janeiro de 2023. Foram selecionados 14 artigos em uma análise em duas etapas. Resultados: Nossa pesquisa mostrou potencial correlação entre alterações neurológicas e psiquiátricas em pacientes com ST. Esses achados corroboram os descritos por outros autores — como a elevada prevalência de dificuldades de aprendizagem ou intelectuais. Entretanto, nossa amostra encontrou mais episódios convulsivos do que os descritos em outros estudos. Conclusões: A correlação estabelecida pode ser devida ao efeito dose-dependente do cromossomo X, visto que nossa revisão sugere que o número de cromossomos sexuais ou o desenvolvimento hormonal está associado a habilidades ou deficiências verbais, sociais e cognitivas. Objetivo genótipofenótipo genótipo fenótipo . (ST) Métodos 10140 10 140 10/14 Brasil Ademais BVS (BVS 201 2023 1 etapas Resultados intelectuais Entretanto estudos Conclusões dosedependente dose dependente X verbais cognitivas (ST 1014 10/1 20 202 101 10/ 2

ABSTRACT Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS). Methods: A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen at a university hospital in southern Brazil. In addition, a literature review spanning the period from January 1, 2012 to January 1, 2023 was carried out using the PubMed and Virtual Health Library databases. Results: Our study showed a potential correlation between neurological and psychiatric alterations in patients with TS. These findings are in accordance with those described in literature such as a high prevalence of learning or intellectual disabilities. However, our sample found more seizure episodes than those reported in other studies. Conclusions: The correlation established could be due to X chromosome dose–effect, as the review suggests that sex chromosome number and hormonal development can be associated with verbal, social, and cognitive skills or impairments. Objective genotypephenotype genotype phenotype . (TS) Methods 10140 10 140 10/14 Brazil addition 1 201 202 databases Results disabilities However studies Conclusions doseeffect dose effect dose–effect verbal social impairments (TS 1014 14 10/1 20 101 10/ 2

ABSTRACT: With advancements in coffee cultivation, several traits may be considered in selection of plants, which must exhibit a set of favorable characteristics. The outturn index, defined as the relationship between the mass of mature fruit and processed beans, emerges as a key factor influencing productivity. This study characterized the outturn over two harvests of 57 clones marketed in the public domain and 10 registered cultivars. The analysis considers the effects of genotypes, measurements, and genetic progress achieved through plant selection. According to the maturation cycle of each clone, washed samples of cherry coffee were collected considering a completely randomized factorial design for characterization of the effects of genotypes, years, and the genotype × years (GY) interaction. The drying, peeling, and the outturn index were individually assessed. Despite the significant effects of the GY interaction, genotypes demonstrated minimal alterations in their ranking across measurements. Clones with higher outturn, including LB30, BRS1216, LB12, N7, LB10, LB20, BRS3220, and AS5, exhibited an average outturn of 25.51%, reflecting a gain of 12.17%. Conversely, clones with lower outturn, such as BG180, GJ30, GJ20, AS7, AS10, P42, N1, and P60, had an average of 19.15%, indicating a reduction of 14.02% compared to the general mean. Analyzing the distribution of the outturn values, 19.4%, 62.7%, and 17.9% of genotypes were classified as high, medium, and low outturn, respectively, providing valuable insights for optimal cultivation strategies. ABSTRACT plants characteristics beans productivity 5 1 cultivars measurements clone (GY interaction drying peeling assessed LB30 LB BRS1216 BRS LB12 N7 N LB10 LB20 BRS3220 AS5 AS 2551 25 51 25.51% 1217 12 17 12.17% Conversely BG180 BG GJ30 GJ GJ20 AS7 AS10 P42 P N1 P60 1915 19 15 19.15% 1402 14 02 14.02 mean values 194 4 19.4% 627 62 7 62.7% 179 9 17.9 high medium respectively strategies LB3 BRS121 LB1 LB2 BRS322 255 2 25.51 121 12.17 BG18 GJ3 GJ2 AS1 P4 P6 191 19.15 140 0 14.0 19.4 6 62.7 17. BRS12 BRS32 25.5 12.1 BG1 19.1 14. 19. 62. BRS1 BRS3 25. 12.

RESUMO: Com o avanço da cafeicultura, múltiplas características devem ser consideradas na seleção de plantas, que devem apresentar um conjunto de atributos favoráveis. O rendimento, definido como a relação de massas entre os frutos maduros e os grãos processados, é um importante componente da produtividade. Este estudo tem como objetivo caracterizar o rendimento ao longo de duas colheitas de 57 clones comercializados em domínio público e 10 cultivares registradas. A análise considera efeitos de genótipos, medições e estimativas de ganhos com a seleção. De acordo com o ciclo de maturação de cada clone, amostras de café cereja foram colhidas considerando um delineamento fatorial inteiramente ao acaso para a caracterização dos efeitos de genótipos, anos e interação genótipo × anos (GA). A secagem, o descascamento e o rendimento foram avaliados individualmente. Apesar dos efeitos significativos da interação GA, os genótipos apresentaram pequenas mudanças no ordenamento de uma medição para a outra. Clones com maior rendimento, entre eles, LB30, BRS1216, LB12, N7, LB10, LB20, BRS3220 e AS5 apresentaram rendimento médio de 25,51% associado a estimativas de ganho de 12,17%. Por outro lado, clones de menor rendimento, como BG180, GJ30, GJ20, AS7, AS10, P42, N1 e P60 tiveram uma média de 19,15% associada a uma redução de 14,02%. A partir da distribuição dos valores, 19,4, 62,7 e 17,9% dos genótipos apresentaram rendimento classificados como alto, médio e baixo, subsidiando o melhor cultivo dos genótipos avaliados. RESUMO cafeicultura plantas favoráveis processados produtividade 5 1 registradas clone GA. GA . (GA) secagem individualmente outra eles LB30 LB BRS1216 BRS LB12 N7 N LB10 LB20 BRS322 AS 2551 25 51 25,51 1217 12 17 12,17% lado BG180 BG GJ30 GJ GJ20 AS7 AS10 P42 P P6 1915 19 15 19,15 1402 14 02 14,02% valores 194 4 19,4 627 62 7 62, 179 9 17,9 alto baixo (GA LB3 BRS121 LB1 LB2 BRS32 255 2 25,5 121 12,17 BG18 GJ3 GJ2 AS1 P4 191 19,1 140 0 14,02 19, 6 17, BRS12 BRS3 25, 12,1 BG1 14,0 BRS1 12, 14,

RESUMO: Os estudos visando o melhoramento de lúpulo (Humulus lupulus) no Brasil são recentes e buscam estabelecer a autossuficiência da produção. O conhecimento da variabilidade dos genótipos disponíveis no país é de fundamental importância para o desenvolvimento de um programa de melhoramento de lúpulo. O objetivo do trabalho foi identificar genitores de lúpulo com potencial agronômico e cervejeiro para o Planalto Catarinense, Brasil. Foi utilizado o delineamento em blocos casualizados em esquema fatorial 3x4 com 12 tratamentos: Fator 1: três anos de cultivo (2019, 2020 e 2021) e combinado com o fator 2: quatro genótipos (Cascade, Chinook, Columbus e Hallertau). Os caracteres avaliados foram a massa fresca de plantas (MFP, g), massa verde de cones (MTV, g), a massa seca de cones (MSC, g), os teores de alfa-ácidos (ALFA, %) e a produção (PROD, g per planta). O genótipo Hallertauer demonstrou melhor desempenho e comportamento diferenciado para os caracteres de massa fresca de plantas, massa seca de cones e produção, quando comparado aos demais. Assim, a partir destes resultados observou-se que, existe variação disponível ao melhoramento genético do lúpulo para esses caracteres, fator que permitirá obter ganhos produtivos no desenvolvimento de novas cultivares, a partir deste genótipo promissor. RESUMO Humulus lupulus Catarinense x 3x 1 tratamentos 2019, 2019 (2019 202 2021 2 Cascade, Cascade (Cascade Chinook Hallertau. Hallertau . Hallertau) MFP, MFP (MFP g, , g) MTV, MTV (MTV MSC, MSC (MSC alfaácidos alfa ácidos ALFA, ALFA (ALFA % PROD, PROD (PROD planta. planta planta) demais Assim observouse observou se cultivares promissor 201 (201 20 (20 (2 (

ABSTRACT: Studies on the improvement of hops (Humulus lupulus) in Brazil are recent and seek to establish self-sufficiency in production. Knowledge of the variability of genotypes available in the country is of fundamental importance for the development of a hop improvement program. The objective of the research was to characterize and identify hop parents with agronomic and brewing potential for the Planalto Catarinense region, Brazil. The randomized block design arranged in a 3x4 factorial scheme was used with 12 treatments: (Factor 1: three years of cultivation (2019, 2020 and 2021) and combined with factor: four genotypes (Cascade, Chinook, Columbus and Hallertau). The characters evaluated were fresh mass of plants (MFP, g), green mass of cones (MTV, g), dry mass of cones (MSC, g), alpha-acid content (ALFA, %) and production (PROD, g per plant). The Hallertauer genotype showed better performance and differentiated behavior for the characters of fresh mass of plants, dry mass of cones and production, when compared to the others. Thus, from these results it was observed that there is variation available for the genetic improvement of hops for these characters, a factor that will allow obtaining productive gains in the development of new cultivars, based on this promising genotype. ABSTRACT Humulus lupulus selfsufficiency self sufficiency program region x 3x 1 treatments Factor 2019, 2019 (2019 202 2021 Cascade, Cascade (Cascade Chinook Hallertau. Hallertau . Hallertau) MFP, MFP (MFP g, , g) MTV, MTV (MTV MSC, MSC (MSC alphaacid alpha acid ALFA, ALFA (ALFA % PROD, PROD (PROD plant. plant plant) others Thus cultivars 201 (201 20 (20 2 (2 (

RESUMO: O objetivo deste trabalho foi desenvolver uma estratégia de seleção e obter progênies de aveia branca precoces, homogêneas para o florescimento e com acréscimos a massa de grãos da panícula, conciliados aos estímulos ambientais controlados pela temperatura do ar. O experimento foi conduzido no município de Augusto Pestana, no estado do Rio Grande do Sul, Brasil. O delineamento experimental de blocos aumentados com testemunha intercalar, os tratamentos regulares correspondem a 238 progênies de aveia branca e o tratamento comum foi representado pela testemunha comercial (URS Taura) disposta em três repetições. A seleção para peso de grãos por panícula, porcentagem de plantas floridas, dias para maturidade fisiológica e acúmulo de graus-dia devem-se a uma alta contribuição genética, o que indica uma seleção promissora para esses caracteres já nas gerações iniciais de melhoramento. O acúmulo de graus dias para a maturidade fisiológica define que 41,94% das progênies são selecionadas como precoces. O índice de distância genótipo ideótipo (MGIDI) selecionou 20% das progênies da aveia branca com maior uniformidade do florescimento, menor acúmulo de graus dias e alto potencial de massa de grãos por panícula. RESUMO precoces panícula ar Pestana Sul Brasil intercalar 23 URS Taura repetições floridas grausdia dia devemse devem se genética melhoramento 4194 41 94 41,94 MGIDI (MGIDI 20 2 419 4 9 41,9 41,

ABSTRACT: The development of a selection strategy and to obtain a precocious white oat progenies, homogeneous for flowering and with additions to panicle grain mass, reconciled to environmental stimuli controlled by air temperature. The experiment was conducted in the municipality of Augusto Pestana, in the state of Rio Grande do Sul, Brazil. The experimental design was in augmented blocks with intermediate control, the regular treatments corresponded to 238 white oat progenies and the common treatment was represented by the commercial control (URS Taura) arranged in three replications. The selection for grains weight per panicle, percentage of flowered plants, days to physiological maturity and accumulation of degrees day are due to a high genetic contribution, which indicated promising selection for these characters already in initial breeding generations. The accumulation of degrees days for physiological maturity defines that 41.94% of the progenies are selected as precocious. The genotype ideotype distance index (MGIDI) selected 20% of the white oat progenies with greater flowering uniformity, less accumulation of degrees days and high potential for grain mass per panicle. ABSTRACT temperature Pestana Sul Brazil 23 URS Taura replications plants contribution generations 4194 41 94 41.94 MGIDI (MGIDI 20 uniformity 2 419 4 9 41.9 41.

Abstract Introduction. The parameters of physiological response to drought stress are the result of a combination of slow- or fast-acting attributes. Gas exchange variables are classified as fast-acting and their level of occurrence or impact depends on the interaction between factors such as genotype and the duration, intensity, and phenological stage of stress occurrence. Objective. To identify the levels of physiological response exhibited by Solanum phureja under progressive water deficit stress. Materials and methods. The experiment was conducted between 2019 and 2020 under semi-controlled conditions at the Obonuco Research Center of the Corporación Colombiana de Investigación Agropecuaria. Four potato cultivars were planted, with half of the trial was maintained at field capacity and the other half subjected to water deficit stress by withholding irrigation for 15 days, followed by rehydration. Gas exchange variables, chlorophyll content, and photosynthetic efficiency were evaluated every three days. Results. Significant differences were observed, with maximum gas exchange values in control plants showing 16.67 µmol m-2 s-1 photosynthesis rate (A); 0.34 mol m-2 s-1 stomatal conductance (gs); 5.5 mmol m-2 s-1 transpiration (E), and under stress, 1.17 µmol m-2 s-1 (A); 0.013 mol m-2 s-1 (gs); 0.29 mmol m-2 s-1 (E). Chlorophyll content values ranged between 451.7 and 474.69 mg m-2 with and without irrigation, respectively. Conclusions. Stomatic closure was the earliest response to water deficit, and potato plants showed recovery in gas exchange values after rehydration following stress. Finally, three levels of physiological response were identified: mild, moderate, and severe stress, depending on the intensity and duration of stress, which is useful for future studies and the development of irrigation schedules.

Resumen Introducción. Los parámetros de respuesta fisiológica al estrés por sequía son la conjugación de una serie de atributos de acción lenta o rápida. Las variables de intercambio gaseoso son catalogadas como de respuesta rápida, su nivel de aparición o afección dependen de la interacción entre factores como el genotipo y duración, intensidad y etapa fenológica de ocurrencia del estrés. Objetivo. Identificar los niveles de respuesta fisiológica que presenta Solanum phureja bajo el estrés progresivo por déficit hídrico. Materiales y métodos. El experimento se realizó entre 2019 y 2020, bajo condiciones semi-controladas en el Centro de Investigación Obonuco de la Corporación Colombiana de Investigación Agropecuaria. Se sembraron cuatro cultivares de papa, la mitad del ensayo se mantuvo con riego a capacidad de campo y a la otra parte se le suspendió para inducir estrés por déficit hídrico durante 15 días, luego se rehidrataron; se evaluaron variables de intercambio gaseoso, clorofila y eficiencia fotosintética cada tres días. Resultados. Se presentaron diferencias significativas con los valores máximos de intercambio gaseoso en plantas del tratamiento control con 16,67 µmol m-2 s-1 tasa de fotosíntesis (A); 0,34 mol m-2 s-1 conductancia estomática (gs) 5,5 mmol m-2 s-1 transpiración (E) y en estrés 1,17 µmol m-2 s-1 (A); 0,013 mol m-2 s-1 (gs); 0,29 mmol m-2 s-1 (E). En cuanto al contenido de clorofila, se presentaron valores entre 451,7 y 474,69 mg m-2 con riego y sin riego, respectivamente. Conclusiones. El cierre estomático fue la respuesta más temprana al déficit hídrico, además, las plantas de papa presentaron recuperación de los valores de intercambio gaseoso después del suministro de riego posterior al estrés. Finalmente, se identificaron tres niveles de respuesta fisiológica, estrés leve, moderado y severo, según la intensidad y duración del estrés, lo cual es de utilidad para futuros estudios y planteamientos de calendarios de riego.

Resumen Introducción: La neoplasia endocrina múltiple tipo 1 (NEM1) es una enfermedad hereditaria autosómica dominante con una prevalencia estimada de 2-10:100 000. Las localizaciones principales de los tumores son glándulas paratiroides (HPT), tracto gastroenteropan creático (TGEP) y glándula pituitaria (TP). El objetivo de nuestra investigación fue describir el fenotipo y genotipo de pacientes argentinos con NEM1. Métodos: Estudiamos 68 casos índices diagnostica dos por presentar al menos dos de los tres tumores principales, o un tumor y un pariente con NEM1, y 84 familiares de primer grado. Secuenciamos la región codificante (exones 2-10); el promotor, exón 1; y las re giones intrónicas flanqueantes del gen MEN1 siguiendo el método de Sanger. Utilizamos MLPA en pacientes índice sin mutación. Resultados: Prevalencia de tumores: HPT 87.5%, TGEP 49% (p < 0.001), sin diferencias estadísticas entre las prevalencias de HPT vs TP (68%). Prevalencia de variantes patogénicas: 90% en casos familiares y 51% en esporádi cos. Hallamos 36 variantes patogénicas, 7 (20%) fueron noveles. Fueron 13 (36.2%) microarreglos con cambio en el marco de lectura, 9 (25%) variantes sin sentido, 8 (22.2%) con cambio de sentido, 3 (8.3%) en sitio de unión de empalme, 2 (5.5%) grandes deleciones y 1 microarre glo sin cambio en el marco de lectura. El 39 % (n = 33) de los parientes de primer grado en 23 familias fueron portadores de mutaciones. Conclusión: El fenotipo y genotipo de los pacientes argentinos con NEM1 fue similar al de otras poblaciones. Destacamos una alta frecuencia de TP y de variaciones patogénicas noveles.

Abstract Introduction: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant inherited disease with an estimated prevalence of 2-10:100 000. The main locations of tumors are parathyroid glands (HPT), gas troenteropancreatic tract (GEPT), and anterior pituitary gland (PT). The aim of our investigation was to describe the phe notype and genotype of Argentinian patients with MEN1. Methods: A total of 68 index patients diagnosed with at least two of the three main tumors or one tumor and a relative with MEN1, and 84 first-degree relatives were studied. We sequenced the coding region (exons 2-10); the promoter, exon 1; and the flanking intronic regions of the MEN1 gene, following the Sanger method. We used MLPA in index patients without mutation. Results: Prevalence of tumors: HPT 87.5%, GEPT 49% (p< 0.001). No statistical differences in the prevalence of HPT vs. PT (68%). Prevalence of pathogenic variants: 90% in familial cases and 51% in sporadic cases. Of the different 36 pathogenic variants, 13 (36.2%) were frameshift micro-rearrangement, 8 (22.2%) were mis sense, 9 (25%) were nonsense, 3 (8.3%) were mutations in splicing sites, 2 (5.5%) were large deletions and, 1 in-frame micro-rearrangement. We found 7 novel pathogenic variants. Thirty-nine percent (n = 33) of first-degree relatives of 23 families were found to be mutation carriers. Conclusion: The phenotype and genotype of Argen tinian patients was similar to other MEN1 populations. A high frequency of PT and the identification of seven novel mutations are underscored.

ABSTRACT Research on genetic improvement for the cultivation of lulo (Solanum quitoense Lam.) in Colombia is limited. Specifically, research related to genotype-by-environment interaction (GEI) and stability in agronomic traits is scarce. This study aimed to identify superior genotypes by evaluating GEI and the stability of fruit weight (FW), ascorbic acid (AA), and yield among 10 half-sib families (HSF). Four trials were established at San Pedro de Cartago, Arboleda, Tangua and La Union of the department of Nariño (Colombia), using the randomized complete block design with four repetitions. To analyze GEI, the additive main effects and multiplicative interaction (AMMI) model and some AMMI stability parameters were used. In Tangua, HSF7 and the control exhibited specific adaptation with yields of 12.82 and 13.41 t ha-1, respectively, and FW greater than 100 g. In Arboleda, HSF29 obtained the highest yield (16.14 t ha-1) with an FW of 100.53 g. HSF4, HSF28 and HSF49 reached yields above 9.0 t ha-1 and a FW greater than 100 g, indicating their stability and suitability for any of the environments evaluated. HSF25 in AA and HSF29 in yield presented specific adaptation in Arboleda. Stable families across environments with good yield were HSF4, HSF28, and HSF49, with HSF4 and HSF28 showing higher values in two of the three traits, and HSF49 excelling in all three variables. These families can be used in plant breeding programs as parents or distributed to farmers as improved varieties.

RESUMEN La investigación sobre mejoramiento genético para el cultivo de lulo (Solanum quitoense Lam.) en Colombia es limitada. Especificamente, la investigación relacionada con la interacción genotipo-ambiente (IGA) y la estabilidad en caracteres agronómicos es escasa. Este estudio tuvo como objetivo identificar genotipos sobresalientes mediante la evaluación de la IGA y la estabilidad del peso del fruto (PF), ácido ascórbico (AA) y rendimiento de 10 familias de medio hermanos (FMH). Se establecieron cuatro ensayos en San Pedro de Cartago, Arboleda, Tangua y La Unión del departamento de Nariño (Colombia), utilizando el diseño de bloques completos al azar con cuatro repeticiones. Para analizar el IGA se utilizó el modelo aditivo de efectos principales e interacción multiplicativa (AMMI) y algunos parámetros de estabilidad AMMI. En Tangua, FMH7 y el control presentaron adaptación específica con rendimientos de 12,82 y 13,41 t ha-1, respectivamente y PF mayor a 100 g. En Arboleda, la FMH29 obtuvo el mayor rendimiento (16,14 t ha-1) con un PF de 100,53 g. FMH4, FMH28 y FMH49 alcanzaron rendimientos superiores a 9,0 t ha-1 y un PF mayor a 100 g, lo que indica su estabilidad e idoneidad para cualquiera de los ambientes evaluados. FMH25 en AA y FMH29 en rendimiento presentaron adaptación específica en Arboleda. Las familias estables en ambientes con buen rendimiento fueron FMH4, FMH28 y FMH49, donde FMH4 y FMH28 mostraron valores superiores en dos de los tres caracteres, y FMH49 destacó en las tres variables. Estas familias pueden utilizarse en programas de fitomejoramiento como parentales o entregarse a los agricultores como variedades mejoradas.

Abstract The state of Yucatan, known for its shallow Leptosol soils poses challenges to agriculture. Therefore, this study focused on examining ecophysiological attributes influencing the growth and yield determinants of six maize genotypes. The study assessed vegetative characteristics, growth rates, dry matter allocation, grain yield, and harvest index. All maize genotypes exhibited early maturity, a favorable trait under the climate conditions of Yucatan. Most genotypes exhibited superior growth rate and dry matter content when compared to the landrace Elotillo. Stem and grain were identified as the primary organs for dry matter accumulation, with 36% and 22% respectively. The highest grain yield was noted in hybrids Impacto and DK-390. This study provided valuable information for farmers in selecting suitable maize genotypes in Yucatan, although additional evaluations of different genotypes and management conditions are recommended.

Resumen El estado de Yucatán, conocido por sus suelos poco profundos de Leptosol plantea desafíos a la agricultura. Por lo tanto, este estudio se centró en examinar los atributos ecofisiológicos que influyen en los determinantes del crecimiento y rendimiento de seis genotipos de maíz. El estudio evaluó características vegetativas, tasas de crecimiento, distribución de materia seca, rendimiento de grano e índice de cosecha. Todos los genotipos de maíz mostraron madurez temprana, una característica favorable bajo las condiciones de clima de Yucatán. La mayoría de los genotipos exhibieron una tasa de crecimiento y un contenido de materia seca superiores en comparación con el genotipo nativo Elotillo. El tallo y el grano fueron identificados como los órganos primarios de acumulación de materia seca con 36% y 22%, respectivamente. El mayor rendimiento de grano se observó en los híbridos Impacto y DK-390. Este estudio proporcionó información valiosa para los agricultores al seleccionar genotipos de maíz adecuados en Yucatán, aunque se recomienda realizar evaluaciones adicionales con diferentes genotipos y condiciones de manejo.

Abstract Introduction. In tomato breeding programs, obtaining new genotypes requires the evaluation of genetic materials in different environments. Objective. To identify tomato genotypes with better adaptability and stability in the province of Los Santos, Panama. Materials and methods. This research was carried out in 5 environments in the province of Los Santos, Panama, during 2022-2023 agricultural cycle. Fifteen genotypes were planted under a randomized complete block design with 3 replications. The data obtained were analyzed by analysis of variance at the level of each environment and combined using the residual maximum likelihood methodology (REML). The genotype-by-environment interaction was estimated by GGE-SReg Biplot analysis. Results and discussion. The analysis revealed a significant interaction between the genotypes and the environments studied, the first 2 axes of the principal components of the interaction explained 70.96% of the total variation. The GGE Biplot through Polygon (which, won, where) allowed the identification of 3 potential environmental groups. The group of mutants T7.RB-50-EN44-13, R1.15-17-18-LV14-2 and R3.10-79-81-LV7-1 were determined as the most outstanding for their stability and performance. The study on the discrimination capacity and representativeness of the environments identified El Ejido and Villa Lourdes as the most discriminating environments while Tres Quebradas was the most representative and the closest to the ideal target environment. Conclusion. The GGE-SReg Biplot analysis allowed an efficient analysis of the genotype-by-environment interaction, which makes it a very efficient tool to identify superior genotypes with good adaptability and stability to the region of interest.

Resumen Introducción. En los programas de fitomejoramiento de tomate, la obtención de nuevos genotipos requiere evaluar los materiales genéticos en diferentes ambientes. Objetivo. Identificar los genotipos de tomate con mejor adaptabilidad y estabilidad en la provincia de Los Santos, Panamá. Materiales y métodos. Esta investigación se desarrolló en 5 ambientes de la provincia de Los Santos, Panamá, en el ciclo agrícola 2022-2023. Se sembraron 15 genotipos bajo un diseño de bloques completos al azar con 3 repeticiones. Los datos obtenidos fueron analizados mediante un análisis de varianza a nivel de cada ambiente y combinado con la metodología de máxima verosimilitud residual (REML). La interacción genotipo por ambiente se estimó a través el análisis Biplot GGE-SReg. Resultados y discusión. Los análisis revelaron una interacción significativa entre los genotipos y los ambientes estudiados, los 2 primeros ejes de los componentes principales de la interacción explicaron el 70,96% de la variación total. El Biplot GGE a través del polígono (cuál, ganó, dónde) permitió identificar 3 grupos ambientales potenciales. Se determinó el grupo de los mutantes T7.RB-50-EN44-13, R1.15-17-18-LV14-2 y R3.10-79-81-LV7-1 como los más sobresalientes por su estabilidad y rendimiento. El estudio sobre la capacidad de discriminación y representatividad de los ambientes identificaron al El Ejido y Villa Lourdes como los entornos más discriminantes mientras que Tres Quebradas fue el más representativo y el más cercano al ambiente ideal objetivo. Conclusión. El análisis Biplot GGE-SReg permitió hacer un análisis eficiente de la interacción genotipo por ambiente, lo que lo convierte en una herramienta muy eficiente para identificar genotipos superiores con una buena adaptabilidad y estabilidad a la región de interés.

Resumen El tizón común es una de las enfermedades más importantes en el cultivo de frijol (Phaseolus vulgaris) en México y a nivel mundial. Esta enfermedad es causada por las bacterias fitopatógenas Xanthomonas axonopodis pv. phaseoli y X. fuscans subsp. fuscans. En el presente estudio se evaluaron 23 poblaciones de frijol (Phaseolus spp.) con diferente origen genético para conocer su respuesta a la enfermedad evaluando el área bajo la curva del progreso de la enfermedad (ABCPE) final de cada una. Se establecieron dos experimentos, en el primero se evaluó la resistencia a las cepas por separado en las variedades Flor de Mayo y Negro Bola; en el segundo experimento se realizó una mezcla de las cepas y se infiltraron en combinación en los 23 genotipos para analizar el ABCPE final. La severidad se evaluó seis veces cada cinco días en todos los ensayos realizados. Los resultados mostraron que la resistencia de la variedad Flor de Mayo a ambas cepas es más estable pero menor que la presentada por la variedad Negro Bola, y que el aislamiento de X. fuscans subsp. fuscans, sin importar el ambiente, fue estadísticamente más agresivo que el de X. axonopodis pv. phaseoli; así mismo, se determinó que el genotipo Mixteco-1 fue el que tuvo una mayor ABCPE, mientras que los genotipos Ejotero (Phaseolus vulgaris L), Tepari (Phaseolus acutifolius A. Gray) y Ayocote morado (Phaseolus coccineus L.) mostraron las menores ABCPE. Conjuntamente se encontraron variaciones de los genotipos dentro y entre los ambientes. Debido a que estos genotipos son de diferente origen genético, se propone piramidar los genes de resistencia que poseen, al planear hibridación en programas de mejoramiento genético y lograr una resistencia horizontal duradera.

Summary Common blight is one of the most important diseases in bean crop (Phaseolus vulgaris) in Mexico and worldwide. This disease is caused by the phytopathogenic bacteria Xanthomonas axonopodis pv. phaseoli and X. fuscans subsp. fuscans. In this study 23 bean (Phaseolus spp.) populations with different genetic origin were evaluated to know their response to the disease by evaluating the final area under the disease progress curve (AUDPC) of each one. Two experiments were established, in the first one, resistance to the strains was evaluated separately in the varieties Flor de Mayo and Negro Bola. In the second experiment the strains were mixed and infiltrated in combination into the 23 genotypes to analyze the final AUDPC. The severity was evaluated six times every five days in all the trials carried out. Results showed that the resistance of the Flor de Mayo variety to both strains is more stable but lower than that of Negro Bola variety and that the isolated of X. fuscans subsp. fuscans, regardless of the environment, was statistically more aggressive than that of X. axonopodis pv. phaseoli; likewise, it was determined that the genotype Mixteco-1 had the highest AUDPC, while the genotypes Ejotero (Phaseolus vulgaris L.), Tepari (Phaseolus acutifolius A. Gray) and Ayocote morado (Phaseolus coccineus L.) showed the lowest AUDPC, Jointly, variations of genotypes were found within and between environments. Because these genotypes are of different genetic origin, it is proposed to pyramide the resistance genes they possess, by planning hybridization in breeding programs and achieving long-lasting horizontal resistance.

Resumen El girasol (Helianthus annuus) es originario del centro y norte de México, Estados Unidos y el sur de Canadá; sin embargo, la industria aceitera mexicana importa de Argentina, Estados Unidos y Canadá el 95 % del grano. El mercado demanda aceite tipo alto oleico por sus beneficios a la salud y estabilidad durante el freído, por lo que las empresas impulsan agricultura por contrato para su siembra a productores interesados; sin embargo, dado que no se han generado variedades alto oleicas mexicanas, el agricultor debe asumir un alto costo por el uso de semilla híbrida de empresas transnacionales. Por lo anterior, en el presente estudio se planteó como objetivo desarrollar variedades alto oleicas mediante la aplicación de marcadores moleculares asociados con la mutación de Pervenets que origina el genotipo Ol y el fenotipo alto oleico; para ello se aplicó el método de mejoramiento denominado selección recurrente entre progenies autofecundadas (SREPA). Con esta metodología se obtuvieron 54 líneas alto oleicas S4 y variedades sintéticas de ciclo precoz, intermedio y tardío, las que se evaluaron en cuatro municipios y cinco ambientes. Los resultados mostraron rendimiento de hasta 3.4 t ha-1 y porcentaje de aceite oleico entre 90.1 y 93.1 %, comparables con los mejores híbridos comerciales alto oleicos usados como testigos.

Summary Sunflower (Helianthus annuus) is native to Central and Northern Mexico, the United States and Southern Canada; however, the Mexican oil industry imports 95 % of the grain from Argentina, the United States and Canada. The market demands high-oleic type oil for its health benefits and stability during frying, thus, companies promote contract farming for planting to interested producers; however, since high-oleic Mexican varieties have not been generated, the farmer must assume a high cost for the use of hybrid seed from transnational corporations. Therefore, the objective of this study was set to develop high-oleic varieties by applying molecular markers associated to the Pervenets mutation that causes the Ol genotype and the high-oleic phenotype. For this purpose, the breeding method called recurrent selection among selffertilized progenies (SREPA) was applied. With this methodology, 54 high-oleic S4 lines and synthetic varieties of early, intermediate and late cycle were obtained, which were evaluated in four municipalities and five environments. The results showed yield of up to 3.4 t ha-1 and oleic oil percentage between 90.1 and 93.1%, comparable to the best high oleic commercial hybrids used as controls.

Abstract: Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic condition affecting the autonomic nervous system and respiratory center due to mutations in the PHOX2B gene, and it is associated with alveolar hypoventilation during sleep and sudden death. It requires early invasive mechanical ventilation (IMV). Objective: To report a neonatal case successfully treated with non-invasive ventilatory support (NVS), avoiding tracheostomy. Clinical Case: Full-term newborn, whose mother uses nocturnal NVS due to CCHS. During the transition period, she presented desaturations associated with hypercapnia and respiratory acidosis, without pulmonary involvement. She developed severe hypoventilation during sleep, with no respiratory effort, peripheral oxygen saturation (SpO2) < 80%, plus respiratory acidosis. While awake, she had good respiratory effort and normal SpO2 without assistance. Noninvasive continuous positive airway pressure and oxygen therapy worsened her condition while sleeping. Complete NVS with nasal interface and bi-level airway positive pressure, inspiratory/expiratory pressure 14-16/4 cm H2O, normalized SpO2 during sleep, and arterial blood gases while awake. Sequencing of the PHOX2B gene confirmed the presence of a heterozygous pathogenic variant with the 20/26 genotype. At 2 months of age, she was discharged maintaining NVS with nasal interface and 0 PEEP, achieving adequate neurodevelopment. Conclusion: We highlight the importance of genetic diagnosis of CCHS in neonates with clinical presentation of early alveolar hypoventilation, especially if there is a family history. We are not aware of other reports of neonatal onset in which NVS prevents IMV, in this potentially lethal pathology.

Resumen: El Síndrome de Hipoventilación Central Congénito (SHCC) es una condición genética infrecuente que afecta el sistema nervioso autónomo y centro respiratorio por mutaciones en el gen PHOX2B, se asocia a hipoventilación alveolar durante el sueño y muerte súbita. Requiere tempranamente de ventilación mecánica invasiva (VMI). Objetivo: Reportar un caso neonatal tratado exitosamente con soporte ventilatorio no invasivo (SVNI), evitando la traqueostomía. Caso Clínico: Recién nacido de término, cuya madre utiliza SVNI nocturno por SHCC. Durante el periodo de transición presentó desaturaciones asociadas a hipercapnia y acidosis respiratoria, sin compromiso pulmonar. Evolucionó con hipoventilación severa durante el sueño, sin esfuerzo respiratorio, saturación periférica de oxígeno (SpO2) < 80%, más acidosis respiratoria. En vigilia presentaba buen esfuerzo respiratorio y SpO2 normales sin asistencia. La presión positiva continua no invasiva en la vía aérea y la oxigenoterapia empeoraban su condición al dormir. El SVNI completo con interfaz nasal y presión positiva en 2 niveles, presión inspiratoria/espiratoria 14-16/4 cm H2O, normalizaron la SpO2 durante el sueño y los gases en sangre arterial en vigilia. La secuenciación del gen PHOX2B confirmó la presencia de una variante patogénica heterocigota con el genotipo 20/26. A los 2 meses de vida egresó manteniendo SVNI con interfaz nasal y PEEP 0, logrando neurodesarrollo adecuado. Conclusión: Resaltamos la importancia del diagnóstico genético del SHCC, en neonatos con presentación clínica de hipoventilación alveolar temprana, particularmente si existe el antecedente familiar. No conocemos otros reportes de debut neonatal en que el SVNI evite la VMI, en esta patología potencialmente letal.