Historia natural de la mucopolisacaridosis III en una serie de pacientes colombianos / Natural history of mucopolysaccharidosis type III in a series of Colombian patients

Introducción: La mucopolisacaridosis de tipo III (MPS III), o síndrome de Sanfilippo, es un trastorno de almacenamiento lisosómico con características neurodegenerativas progresivas, predominante del sistema nervioso central. Su diagnóstico se basa en el cuadro clínico, y priman alteraciones en el neurodesarrollo y neuropsiquiátricas, incluso antes de la presencia de alteraciones fenotípicas. El análisis bioquímico para identificar el tipo de glucosaminoglucanos presente, la determinación enzimática y el estudio de genética molecular confirman la enfermedad. Casos clínicos: Se realiza la descripción clínica de ocho pacientes con diagnóstico de MPS III en Colombia, con síntomas iniciales en relación con retraso del desarrollo y trastornos comportamentales evidenciados entre los 3 y 8 años, asociado a facies toscas, cejas pobladas, hepatomegalia y pérdida auditiva progresiva en todos los casos. Uno de los pacientes presentó anomalías cardíacas; dos de ellos, epilepsia focal; y en uno se evidenció atrofia óptica. Todos presentaron alteraciones en las neuroimágenes con evidencia de pérdida del volumen parenquimatoso, atrofia del cuerpo calloso y adelgazamiento cortical; el diagnostico se realizó a través de estudios bioquímicos de cromatografía de glucosaminoglucanos y todos cuentan con un estudio genético confirmatorio. Conclusiones: La MPS III es un desafío diagnóstico, particularmente en pacientes con un curso atenuado de la enfermedad, debido al curso variable, síntomas neuropsiquiátricos tempranos inespecíficos y falta de características somáticas evidentes en comparación con otros tipos de MPS. Cuando se tiene el diagnóstico definitivo, es fundamental brindar atención interdisciplinaria para el paciente y la familia, y apoyar el tratamiento de los síntomas físicos, garantizando ofrecer el mejor cuidado posible y la mejor calidad de vida para el paciente y su familia, al tratarse de una condición neurodegenerativa.(AU)

Introduction: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a lysosomal storage disease with progressive neurodegenerative features, predominantly affecting the central nervous system. Diagnosis is based on clinical features, with neurodevelopmental and neuropsychiatric alterations taking precedence, including over phenotype alterations. The disease is confirmed by biochemical analysis to identify the type of glycosaminoglycans present, enzyme assay and molecular genetic studies. Case reports: A clinical description was performed for eight patients diagnosed with MPS III in Colombia. Their initial symptoms were related to developmental delay and behavioural disorders presenting between 3 and 8 years of age, associated in all cases with coarse facial features, thick eyebrows, hepatomegaly and progressive hearing loss. One of the patients presented cardiac anomalies; two presented focal epilepsy; and one presented optic atrophy. They all presented neuroimaging alterations, with evidence of parenchymal volume loss, corpus callosum atrophy and cortical thinning; the diagnosis was performed by biochemical glycosaminoglycan chromatography studies, and all patients have a confirmatory genetic study. Conclusions: MPS III is a challenge for diagnosis, particularly in its early stages and in patients in which the course of the disease is attenuated. This is due to its variable course, non-specific early neuropsychiatric symptoms, and the absence of obvious somatic features compared to other types of MPS. After a definitive diagnosis has been made, interdisciplinary care must be provided for the patient and their family, and support given for the treatment of physical symptoms, ensuring the best possible care and quality of life for the patient and their family, as the condition is neurodegenerative.(AU)

Phenotypic plasticity in adults of Anticarsia gemmatalis exposed to sub-doses of Bt-based bioinsecticide / Plasticidade fenotípica morfométrica em adultos de Anticarsia gemmatalis Hübner, 1818 expostos a subdoses de Bacillus thuringiensis Berliner, 1911

Anticarsia gemmatalis Hünber, 1818 is one of the main defoliating species in the soybean crop. Bacillus thuringiensis Berliner, 1915, is a bacterium used in the biological control of this pest species. Resistant populations and their sublethal effects caused by the use of the bacteria have already been reported; however, there are no studies on phenotypic plasticity in adulthood exposed to Bt-based bioinsecticide sub-doses. This study aimed to evaluate the morphometry of A. gemmatalis adults under laboratory conditions submitted to the Bt-based bioinsecticide Dipel® over the three generations. The body segments mensuread were width, length, and area of the anterior and posterior wings, the weight of the integument, chest, abdomen, wings, and the whole adult of males and females. Among the treatments, LC5 in the first generation and LC10 in the second generation were those with lower thresholds in relation to the weight of the chest and abdomen, considering the proportions of the body smaller than the females. The female's weight adulthood was reduced by 10% about males, and, only in the first generation. Males have larger body size and more pronounced phenotypic plasticity than females. Here, we demonstrate the first study assessing the phenotypic plasticity of A. gemmatalis adults.

Anticarsia gemmatalis Hünber, 1818 é uma das principais espécies desfolhadoras da cultura da soja. Bacillus thuringiensis Berliner, 1915, é uma bactéria utilizada no controle biológico dessa espécie de praga. Populações resistentes e seus efeitos subletais causados pelo uso da bactéria já foram relatados, no entanto, não há estudos sobre a plasticidade fenotípica na idade adulta exposta a subdoses de bioinseticida à base de Bt. Este trabalho teve como objetivo avaliar a morfometria de adultos de A. gemmatalis em condições de laboratório submetidos ao bioinseticida Dipel® ao longo de três gerações. Os segmentos corporais mensuráveis eram largura, comprimento e área das asas anterior e posterior, o peso do tegumento, tórax, abdômen, asas e todo o adulto de machos e fêmeas. Dentre os tratamentos, CL5 na primeira geração e CL10 na segunda geração foram aqueles com limiares mais baixos em relação ao peso do tórax e abdômen, considerando as proporções do corpo menores que as do sexo feminino. O peso da fêmea na idade adulta foi reduzido em 10% em relação aos machos e, apenas na primeira geração. Os machos têm tamanho corporal maior e plasticidade fenotípica mais pronunciada do que as fêmeas. Este estudo demonstra o primeiro estudo avaliando a plasticidade fenotípica de adultos de A. gemmatalis.

The Influence of BMI in Asthma: Which Traits Are due to Obesity and Which to the Asthma and Obesity Phenotype?

Background: The characteristics of the asthma and obesity phenotype have been described in cluster studies but have not been subsequently confirmed. Specific characteristics of this phenotype have not been differentiated from those inherent to the patient’s body mass index (BMI). Objectives: This study aims to assess the effect of BMI on asthma in order to identify which traits could define the asthma and obesity phenotype and which are inherent to the patient's BMI. Methods: A real-life retrospective observational study was conducted based on data from 2514 patients with suspected asthma collected at the first visit to the allergy clinic between November 2014 and November 2017. All patients had to perform an appropriate spirometry maneuver. All BMI, sex, and age groups were represented. Results: The influence of BMI on asthma differed according to age group and sex. All spirometry results and FeNO were influenced by BMI. The only notable asthma characteristics were later onset of asthma with higher BMI values. No other differences were found between the BMI groups. Conclusions: The effect of BMI on asthma is age-dependent; therefore, it should be corrected for age. The most important variations are in FeNO and spirometry results. The specific characteristics of the asthma and obesity phenotype are a greater perception of symptoms with fewer alterations in respiratory function tests and a lower prevalence of atopy, rhinitis, and allergy, including allergic asthma. Other characteristics of this phenotype, such as a higher female prevalence or late-onset or noneosinophilic asthma, are nonspecific for this phenotype

Antecedentes : las características del fenotipo del asma y la obesidad se han descrito en estudios grupales, pero no se han confirmado posteriormente. Las características específicas de este fenotipo no se han diferenciado de las inherentes al índice de masa corporal (IMC) del paciente. Objetivos : Este estudio tiene como objetivo evaluar el efecto del IMC sobre el asma para identificar qué rasgos podrían definir el fenotipo del asma y la obesidad y cuáles son inherentes al IMC del paciente. Métodos : Se realizó un estudio observacional retrospectivo de la vida real basado en datos de 2514 pacientes con sospecha de asma recopilados en la primera visita a la clínica de alergia entre noviembre de 2014 y noviembre de 2017. Todos los pacientes tuvieron que realizar una maniobra de espirometría adecuada. Estuvieron representados todos los grupos de IMC, sexo y edad. Resultados : La influencia del IMC sobre el asma difirió según grupo de edad y sexo. Todos los resultados de la espirometría y el FeNO estuvieron influenciados por el IMC. Las únicas características notables del asma fueron la aparición tardía del asma con valores de IMC más altos. No se encontraron otras diferencias entre los grupos de IMC. Conclusiones : El efecto del IMC sobre el asma depende de la edad; por lo tanto, debe corregirse según la edad. Las variaciones más importantes se encuentran en los resultados de FeNO y espirometría. Las características específicas del fenotipo de asma y obesidad son una mayor percepción de los síntomas con menos alteraciones en las pruebas de función respiratoria y una menor prevalencia de atopia, rinitis y alergia, incluido el asma alérgica. Otras características de este fenotipo, como una mayor prevalencia femenina o asma de aparición tardía o no eosinofílica, no son específicas de este fenotipo (AU)

Macular dystrophies associated with Stargardt-like phenotypes / Distrofias maculares associadas a fenótipos Stargardt-like

ABSTRACT Purpose: Stargardt-like phenotype has been described as associated with pathogenic variants besides the ABCA4 gene. This study aimed to describe four cases with retinal appearance of Stargardt disease phenotypes and unexpected molecular findings. Methods: This report reviewed medical records of four patients with macular dystrophy and clinical features of Stargardt disease. Ophthalmic examination, fundus imaging, and next-generation sequencing were performed to evaluate pathogenic variants related to the phenotypes. Results: Patients presented macular atrophy and pigmentary changes suggesting Stargardt disease. The phenotypes of the two patients were associated with autosomal dominant inheritance pattern genes (RIMS1 and CRX) and in the other two patients were associated with recessive dominant inheritance pattern genes (CRB1 and RDH12) with variants predicted to be pathogenic. Conclusion: Macular dystrophies may have phenotypic similarities to Stargardt-like phenotype associated with other genes besides the classic ones.

RESUMO Objetivo: Fenótipos Stargardt-like já foram asso-ciados a variantes patogênicas no gene ABCA4. O propósito desse estudo é descrever quatro pacientes com achados retinianos semelhantes a doença de Stargardt com resultados moleculares diferentes do esperado. Métodos: Esse relato fez a revisão de prontuários médicos de quatro pacientes com distrofia macular e achados clínicos sugestivos de doença de Stargardt. Foram realizados avaliação oftalmológica, exames de imagens e testes usando next generation sequencing para avaliar variantes patogênicas associadas aos fenótipos dos pacientes. Resultados: Os pacientes apresentavam atrofia macular e alterações pigmentares sugerindo achados clínicos de doença de Stargardt. Dois pacientes foram associados a genes com herança autossômica dominante (RIMS1 e CRX) e dois pacientes foram associados a genes com herança autossômica recessiva (CRB1 e RDH12) com variantes preditoras de serem patogênicas. Conclusão: Distrofias maculares podem ter similaridades fenotípicas com fenótipo de Stargardt-like associados a outros genes além dos classicamente já descritos.

Association of dietary patterns and body phenotypes in Brazilian adolescents / Associação entre padrões alimentares e fenótipos corporais em adolescentes brasileiros

Abstract Objectives: to investigate the association between dietary patterns, physical activity, and body phenotypes in adolescents. Methods: this school-based cross-sectional study involved 1,022 adolescents aged ten to 19 years. Dietary patterns and body phenotypes were defined using a principal component analysis. Body phenotype was defined using anthropometry, body composition, biochemistry, sexual maturation, and dietary patterns from 19 food groups, using a food frequency questionnaire. The association between the dietary patterns and body phenotypes was assessed using a linear regression model. Results: five body phenotypes (BP1adiposity, BP2puberty, BP3biochemical, BP4muscular, BP5lipids_biochemical) and five dietary patterns (DP1ultraprocessed_foods, DP2fresh_foods, DP3bread_rice_beans, DP4culinary_preparations, DP5cakes_rice_beans) were identified. There were higher BP_adiposity scores for obese adolescents, but energy expenditure was similar for obese and non-obese adolescents. Physical activity was positively associated with BMI, BP_adiposity, and BP_puberty. We observed a negative association between DP_ultraprocessed_foods and BMI, and a positive association between DP_fresh_food. DP_fresh_foods was positively associated with BP_adiposity; DP_ultraprocessed_foods and DP_culinary_preparations were negatively associated with this phenotype. BP_biochemical was negatively associated with DP_fresh_foods. Conclusion: we identified a negative association between a dietary pattern composed mainly of ultra-processed foods, fresh foods, and BP_adiposity. These associations need to be better explored, especially in adolescents, as both dietary patterns and phenotypes were defined using multivariate analysis.

Resumo Objetivos: investigar associação entre padrão alimentar (PA), atividade física (AF) e fenótipos corporais (FC) em adolescentes. Métodos: estudo transversal de base escolar com 1.022 adolescentes de dez a 19 anos. Padrão alimentar e fenótipo corporal foram definidos por meio da análise de componentes principais. O fenótipo corporal foi definido usando antropometria, composição corporal, bioquímica e maturação sexual, e padrão alimentar a partir de 19 grupos de alimentos de um questionário de frequência alimentar. A associação entre padrão alimentar e fenótipo corporal foi avaliada por modelo de regressão linear. Resultados: foram identificados cinco fenótipos corporais (FC1adiposidade, FC2puberdade, FC3bioquímico, FC4muscular, FC5lipídios_bioquímico) e cinco padrões alimentares (PA1alimentos_ultraprocessados, PA2alimentos_frescos, PA3pão_arroz_feijão, PA4preparações_culinárias, PA5bolos_arroz_feijão). Há maiores escores de FC_adiposidade para adolescentes com obesidade, mas o gasto energético foi semelhante para adolescentes com e sem diagnóstico de obesidade. Atividade física associou-se positivamente com IMC, FC_adiposidade e FC_puberdade. Observamos associação negativa entre PA_ultraprocessados e IMC, e positiva entre PA_alimentos_frescos. PA_alimentos_frescos associou-se positivamente com FC_adiposidade; PA_ultraprocessados e PA_preparações_culinárias se associaram negativamente a este fenótipo. FC_bioquímico associou-se negativamente com PA_alimentos_frescos. Conclusão: identificamos associação negativa entre padrão alimentar composto principalmente por alimentos ultraprocessados e alimentos in natura e FC_adiposidade. Essas associações devem ser exploradas com o mesmo público em estudos futuros, principalmente em adolescentes, pois tanto o padrão alimentar quanto o fenótipo foram definidos por meio de análise multivariada.

Phenotypic plasticity in adults of Anticarsia gemmatalis exposed to sub-doses of Bt-based bioinsecticide

Abstract Anticarsia gemmatalis Hünber, 1818 is one of the main defoliating species in the soybean crop. Bacillus thuringiensis Berliner, 1915, is a bacterium used in the biological control of this pest species. Resistant populations and their sublethal effects caused by the use of the bacteria have already been reported; however, there are no studies on phenotypic plasticity in adulthood exposed to Bt-based bioinsecticide sub-doses. This study aimed to evaluate the morphometry of A. gemmatalis adults under laboratory conditions submitted to the Bt-based bioinsecticide Dipel® over the three generations. The body segments mensuread were width, length, and area of the anterior and posterior wings, the weight of the integument, chest, abdomen, wings, and the whole adult of males and females. Among the treatments, LC5 in the first generation and LC10 in the second generation were those with lower thresholds in relation to the weight of the chest and abdomen, considering the proportions of the body smaller than the females. The females weight adulthood was reduced by 10% about males, and, only in the first generation. Males have larger body size and more pronounced phenotypic plasticity than females. Here, we demonstrate the first study assessing the phenotypic plasticity of A. gemmatalis adults.

Resumo Anticarsia gemmatalis Hünber, 1818 é uma das principais espécies desfolhadoras da cultura da soja. Bacillus thuringiensis Berliner, 1915, é uma bactéria utilizada no controle biológico dessa espécie de praga. Populações resistentes e seus efeitos subletais causados pelo uso da bactéria já foram relatados, no entanto, não há estudos sobre a plasticidade fenotípica na idade adulta exposta a subdoses de bioinseticida à base de Bt. Este trabalho teve como objetivo avaliar a morfometria de adultos de A. gemmatalis em condições de laboratório submetidos ao bioinseticida Dipel® ao longo de três gerações. Os segmentos corporais mensuráveis eram largura, comprimento e área das asas anterior e posterior, o peso do tegumento, tórax, abdômen, asas e todo o adulto de machos e fêmeas. Dentre os tratamentos, CL5 na primeira geração e CL10 na segunda geração foram aqueles com limiares mais baixos em relação ao peso do tórax e abdômen, considerando as proporções do corpo menores que as do sexo feminino. O peso da fêmea na idade adulta foi reduzido em 10% em relação aos machos e, apenas na primeira geração. Os machos têm tamanho corporal maior e plasticidade fenotípica mais pronunciada do que as fêmeas. Este estudo demonstra o primeiro estudo avaliando a plasticidade fenotípica de adultos de A. gemmatalis.

Enfermedad neurológica asociada al gen KIF1A: correlación genotipo/fenotipo / KIF1A gene-associated neurological disease: the correlation between genotype and phenotype

Introducción: La encefalopatía KIF1A-associated-neurological-disorder (KAND) es un grupo de patologías neurodegenerativas progresivas de diversa gravedad ocasionadas por mutaciones en el gen KIF1A (kinesin family member 1A) situado en el cromosoma 2q37.3. Dicho gen codifica una proteína de la familia de las cinesinas 3 que participa en el transporte anterógrado de las vesículas presinápticas dependientes del trifosfato de adenosina a través de microtúbulos neuronales. Casos clínicos: Se describen cuatro pacientes, con edades entre 1 y 13 años, con mediana de inicio de los síntomas de cinco meses (rango intercuartílico: 0-11 meses), lo que supone una prevalencia aproximada de 1 de cada 64.000 menores de 14 años para nuestra población pediátrica. Clínicamente, destacaron discapacidad intelectual, hipotonía axial y paraparesia espástica en 4/4, y síntomas cerebelosos en 2/4. Otras manifestaciones fueron incontinencia urinaria, polineuropatía sensitivomotora y alteración conductual. Destaca, en el caso 2, la alteración en el videoelectroencefalograma, que mostraba epilepsia focal con generalización secundaria y focalidad paroxística occipitoparietal posterior derecha con transmisión contralateral. También mostraba crisis oculógiras en supraversión instantáneas pluricotidianas sin correlato electroencefalográfico. Conclusiones: En nuestra serie, la encefalopatía KAND, fenotipo trastorno neurodegenerativo con retraso global del desarrollo, de la marcha y espasticidad progresiva de los miembros inferiores, atrofia cerebelosa y/o afectación de la corteza visual, fue predominante, y en uno de los casos asoció polineuropatía sensitivomotora. La mutación de novo missense fue más frecuente y en tres casos es la primera descripción conocida. Un caso mostraba epilepsia focal y crisis oculógiras no epilépticas.(AU)

Introduction: KIF1A-associated-neurological-disorder (KAND) encephalopathy is a group of progressive neurodegenerative pathologies of varying severity caused by mutations in the KIF1A gene (Kinesin family member 1A) located on chromosome 2q37.3. This gene encodes a protein of the kinesin-3 family that participates in the ATP-dependent anterograde transport of presynaptic vesicles through neuronal microtubules. Case report: Four patients are described, aged 1-13 years, with a median onset of symptoms of 5 months (IQR 0-11 months), which represents an approximate prevalence of 1 per 64,000 children under 14 years of age for our pediatric population. Clinically, intellectual disability (ID), axial hypotonia and spastic paraparesis stood out in 4/4 and cerebellar symptoms in 2/4. Other manifestations were urinary incontinence, sensory-motor polyneuropathy, and behavioral alteration. In case 2, the alteration in the video-EEG stands out, which showed focal epilepsy with secondary generalization and right posterior occipito-parietal paroxysmal focality with contralateral transmission. She also showed instantaneous pluricotidian supraversion oculogyric seizures without EEG correlates. Conclusions: In our series, KAND encephalopathy had a predominant neurodegenerative disorder phenotype with global developmental delay, gait delay, and progressive spasticity of the lower limbs, cerebellar atrophy, and/or involvement of the visual cortex, which in one case was associated with sensory-motor polyneuropathy. The de novo missense mutation was more frequent and in three cases it is the first known description. One case showed focal epilepsy and nonepileptic oculogyric seizures.(AU)

Phenotypic and genotypic characterization of Colombian clinical isolates of Sporothrix spp. / Caracterización fenotípica y genotípica de aislamientos clínicos colombianos de Sporothrix spp.

INTRODUCTION: For over a century, Sporothrix schenckii was considered the sole species responsible for sporotrichosis. In 2007, scientific community confirmed the disease could be caused by various Sporothrix species. These species differed in their virulence factors and their antifungal sensitivity. OBJECTIVE: This study aims to characterize 42 Colombian clinical isolates of Sporothrix spp. phenotypically and genotypically. MATERIAL AND METHODS: Forty-two clinical isolates were characterized using phenotypic methods. It involved various culture media to determine their growth range at different temperatures and to assess the type and distribution of pigment and colony texture. Microscopic morphology was evaluated through microcultures, as well as the conidia diameter, type of sporulation, and morphology. Additionally, the assimilation of carbohydrates was selected as a physiological trait for species identification. Genotyping of 40 isolates was performed through partial amplification of the calmodulin gene, followed by sequence analysis. RESULTS: Molecular studies enabled the identification of 32 isolates of S. schenckii and 8 isolates of S. globosa. The combination of phenotypic and genotypic methods eased these species characterizations and the recognition keys development based on parameters such as growth diameter at 25 and 30 ºC, colony texture (membranous or velvety) on potato dextrose agar, and microscopic morphology with predominance of pigmented triangular, elongated oval globose, or subglobose conidia. CONCLUSIONS: Confirmation of the phenotypic characteristics and molecular analysis is crucial for identifying Sporothrix species and determining adequate treatment. This study represents the first phenotypical and genotypical characterization of clinical isolates of Sporothrix spp. reported in Colombia.

Introducción: Por más de un siglo se creyó que Sporothrix schenckii era la única especie responsable de la esporotricosis. Sin embargo, en el 2007, se consideró que podría ser causada por diferentes especies de Sporothrix, que difieren en sus factores de virulencia y su sensibilidad a los antifúngicos. Objetivo: Caracterizar fenotípica y genotípicamente 42 aislamientos clínicos colombianos de Sporothrix spp. Materiales y métodos: Se caracterizaron 42 aislamientos clínicos mediante métodos fenotípicos. Se usaron varios medios de cultivo para determinar el rango de crecimiento a diferentes temperaturas, el tipo y la distribución del pigmento, y la textura de las colonias. Se evaluó la morfología microscópica por microcultivos mediante la determinación del diámetro, el tipo de esporulación y la morfología de las conidias. La asimilación de carbohidratos se usó como una característica fisiológica para identificar las especies. La genotipificación de los 40 aislamientos se llevó a cabo mediante la amplificación parcial del gen que codifica para la calmodulina y se confirmó por secuenciación. Resultados: Mediante estudios moleculares, se identificaron 32 aislamientos de S. schenckii y ocho de S. globosa. La combinación de métodos fenotípicos y genotípicos permitió caracterizar las especies y construir claves para su reconocimiento, con base en parámetros como el diámetro de crecimiento a 25 y 30 ºC, la textura de las colonias (membranosa, aterciopelada) en agar papa dextrosa y la morfología microscópica con predominio de conidias (triangulares pigmentadas, ovales globosas elongadas, subglobosas). Conclusiones: La caracterización fenotípica y los análisis moleculares son necesarios para identificar las especies de Sporothrix y, de esta forma, elegir el tratamiento indicado. Esta es la primera caracterización fenotípica y genotípica reportada de aislamientos clínicos colombianos de Sporothrix spp.

Las células senescentes como factores patogénicos y posibles dianas terapéuticas en osteoporosis / Cellular senescence as a pathogenic factor and potential therapeutic target in osteoporosis

La senescencia celular es un proceso inducido por varios tipos de estrés que causan una detención irreversible del ciclo celular y un cambio en las características y la funcionalidad de las células, además de la adquisición de un fenotipo secretor que genera un ambiente proinflamatorio. Si bien en determinados contextos es beneficiosa para los tejidos y promueve el desarrollo del organismo, la senescencia es un destino celular implicado en el proceso de envejecimiento y en las patologías degenerativas relacionadas con la edad. Los senolíticos son fármacos que eliminan específicamente a las células senescentes y los senomórficos son fármacos que suprimen su fenotipo secretor asociado a senescencia (SASP) sin inducir la muerte celular. Así, las estrategias terapéuticas enfocadas en las células senescentes (senolíticos y senomórficos) como mecanismo subyacente al envejecimiento, se erigen en una alternativa con gran potencial para luchar contra las enfermedades relacionadas con la edad en su conjunto, y no de forma individual. Una de estas patologías es la osteoporosis, donde además se han descrito, a nivel experimental, que fármacos como el ácido zoledrónico tiene efecto sobre los preosteoblastos y actúa sobre las células senescentes, prolongando la supervivencia y abriendo la puerta a la posibilidad de tratar las enfermedades relacionadas con la edad con fármacos que ya se empleen en la práctica, y que puedan tener un efecto más allá del propio hueso y aumentar la supervivencia. En este trabajo se va a realizar una revisión en este campo de vertiginoso crecimiento en los últimos años y con indudable interés traslacional.(AU)

Cellular senescence is a process induced by various types of stress that irreversibly cause cell cycle arrest and changes tothe characteristics and functionality of cells, as well as the acquisition of a secretory phenotype that generates a pro-in-flammatory environment. While, in certain contexts, it is beneficial for tissues and promotes organism development, senes-cence is a cellular fate implicated in the process of aging and age-related degenerative conditions. Senolytics are drugs thatspecifically eliminate senescent cells, and senomorphics are drugs that suppress their senescence-associated secretoryphenotype (SASP) without inducing cell death. Therefore, therapeutic strategies targeting senescent cells (senolytics andsenomorphics) as an underlying mechanism of aging emerge as an alternative with great potential to fight age-relateddiseases as a whole rather than individually. One of these conditions is osteoporosis where it has been experimentallydescribed that drugs such as zoledronic acid have effects on preosteoblasts and act on senescent cells extending survivaland opening up the possibility of treating age-related diseases with drugs already used in practice, which may have effectsbeyond the bone itself and increase overall survival. In this study, a review will be conducted in this rapidly growing fieldin recent years of undeniable translational interest.(AU)

Relación entre biometría fetal, producto de acumulación de los lípidos y condición trófica al nacer / Relationship between fetal biometry, lipid accumulation product and the trophic condition at birth

Fundamento: Las alteraciones del estado nutricional materno generalmente se relacionan con desviaciones del crecimiento fetal, que pueden detectarse por los parámetros biofísicos fetales e identifican la posible condición trófica al nacer. Objetivo: Determinar la posible relación entre los parámetros biométricos fetales, la condición trófica al nacer y el producto de acumulación de los lípidos. Metodología: Se realizó un estudio transversal en el Policlínico Chiqui Gómez Lubian del municipio Santa Clara, durante el año 2019, en una población de 253 gestantes normopeso supuestamente sanas al inicio de la gestación. La muestra no probabilística fue de 144 gestantes. Las variables de estudio fueron: producto de acumulación de los lípidos, biometría fetal y condición trófica al nacer. Se utilizaron métodos teóricos, empíricos y estadísticos. Resultados: En el segundo trimestre ningún parámetro biométrico coincidió con la condición al nacer de pequeño, mientras que para el grande coincidieron las circunferencias cefálica y abdominal. En el tercer trimestre la longitud del fémur y la circunferencia abdominal coinciden en la identificación del pequeño y del grande. El PAL se correlacionó con la circunferencia abdominal del tercer trimestre y con el peso al nacer; presentando mayor frecuencia de valores en el tercer tertil para los nacimientos grandes. Conclusiones: La circunferencia abdominal fue el parámetro biométrico con mayor coincidencia con la condición trófica al nacer, la que se asoció con valores en el tercer tertil del PAL para la detección de nacimientos grandes, relacionándose el fenotipo normopeso metabólicamente obeso con el crecimiento fetal por exceso.

Background: Maternal nutritional status disorders are usually related to fetal growth deviations, which can be detected by fetal biophysical parameters and identify the possible trophic condition at birth. Objective: To determine the possible relationship between fetal biometric parameters, the birth trophic state and lipid accumulation product. Methodology: A cross-sectional study was conducted at the Chiqui Gómez Lubian Polyclinic in Santa Clara municipality, during 2019, in a population of 253 normal-weight pregnant women who were apparently healthy at the beginning of their gestation. The non-probability sample was made up of 144 pregnant women. Study variables were: lipid accumulation product, fetal biometry and trophic condition at birth. Theoretical, empirical and statistical methods were used. Results: In the second trimester, none of the biometric parameters matched the condition at birth as a small child, while in the large one the head and abdominal circumferences matched. In the third trimester, femoral length and abdominal circumference coincide in identifying the small one and the large one. LAP correlated with third trimester abdominal circumference and birth weight, presenting higher frequency of values in the third tertile for large births. Conclusions: Abdominal circumference was the biometric parameter with the highest coincidence with trophic condition at birth, associated with values in the third tertile of the LAP for detecting large births, relating the metabolically obese normal weight phenotype with excessive fetal growth.

Phenotypic and genotypic characterization of Colombian clinical isolates of Sporothrix spp

Introduction. For over a century, Sporothrix schenckii was considered the sole species responsible for sporotrichosis. In 2007, scientific community confirmed the disease could be caused by various Sporothrix species. These species differed in their virulence factors and their antifungal sensitivity. Objective. This study aims to characterize 42 Colombian clinical isolates of Sporothrix spp. phenotypically and genotypically. Material and methods. Forty-two clinical isolates were characterized using phenotypic methods. It involved various culture media to determine their growth range at different temperatures and to assess the type and distribution of pigment and colony texture. Microscopic morphology was evaluated through microcultures, as well as the conidia diameter, type of sporulation, and morphology. Additionally, the assimilation of carbohydrates was selected as a physiological trait for species identification. Genotyping of 40 isolates was performed through partial amplification of the calmodulin gene, followed by sequence analysis. Results. Molecular studies enabled the identification of 32 isolates of S. schenckii and 8 isolates of S. globosa. The combination of phenotypic and genotypic methods eased these species characterizations and the recognition keys development based on parameters such as growth diameter at 25 and 30 °C, colony texture (membranous or velvety) on potato dextrose agar, and microscopic morphology with predominance of pigmented triangular, elongated oval globose, or subglobose conidia. Conclusions. Confirmation of the phenotypic characteristics and molecular analysis is crucial for identifying Sporothrix species and determining adequate treatment. This study represents the first phenotypical and genotypical characterization of clinical isolates of Sporothrix spp. reported in Colombia.

Introducción. Por más de un siglo se creyó que Sporothrix schenckii era la única especie responsable de la esporotricosis. Sin embargo, en el 2007, se consideró que podría ser causada por diferentes especies de Sporothrix, que difieren en sus factores de virulencia y su sensibilidad a los antifúngicos. Objetivo. Caracterizar fenotípica y genotípicamente 42 aislamientos clínicos colombianos de Sporothrix spp. Materiales y métodos. Se caracterizaron 42 aislamientos clínicos mediante métodos fenotípicos. Se usaron varios medios de cultivo para determinar el rango de crecimiento a diferentes temperaturas, el tipo y la distribución del pigmento, y la textura de las colonias. Se evaluó la morfología microscópica por microcultivos mediante la determinación del diámetro, el tipo de esporulación y la morfología de las conidias. La asimilación de carbohidratos se usó como una característica fisiológica para identificar las especies. La genotipificación de los 40 aislamientos se llevó a cabo mediante la amplificación parcial del gen que codifica para la calmodulina y se confirmó por secuenciación. Resultados. Mediante estudios moleculares, se identificaron 32 aislamientos de S. schenckii y ocho de S. globosa. La combinación de métodos fenotípicos y genotípicos permitió caracterizar las especies y construir claves para su reconocimiento, con base en parámetros como el diámetro de crecimiento a 25 y 30 °C, la textura de las colonias (membranosa, aterciopelada) en agar papa dextrosa y la morfología microscópica con predominio de conidias (triangulares pigmentadas, ovales globosas elongadas, subglobosas). Conclusiones. La caracterización fenotípica y los análisis moleculares son necesarios para identificar las especies de Sporothrix y, de esta forma, elegir el tratamiento indicado. Esta es la primera caracterización fenotípica y genotípica reportada de aislamientos clínicos colombianos de Sporothrix spp.

Infección por SARS-CoV-2 y grupos sanguíneos en pacientes cubanos diagnosticados con la COVID-19

Introducción: Diferentes estudios han propuesto la relación entre los grupos sanguíneos del sistema ABO y la susceptibilidad a la COVID-19 y su importancia en el curso de la enfermedad. Objetivo: Determinar la frecuencia fenotípica de grupos sanguíneos ABO y RhD en un grupo de pacientes con infección activa por SARS-CoV-2. Métodos: Se realizó un estudio descriptivo, transversal y caso control en el Hospital Docente Clínico Quirúrgico "Freyre Andrade" de La Habana, para determinar la frecuencia fenotípica ABO y RhD en un grupo de pacientes con enfermedad activa por la COVID-19. Se estudiaron 928 muestras de sangre de pacientes con diagnóstico de COVID-19 y 1050 muestras pertenecientes a individuos sanos como grupo control. El grupo sanguíneo ABO y RhD se determinó por método de aglutinación en tubo con sueros hemoclasificadores anti-A, anti-B, anti-A+B, yanti-D. Los resultados fueron expresados en frecuencias absolutas y relativas y se determinó la asociación del grupo sanguíneo con la gravedad de la enfermedad por medio de la prueba no paramétrica de χ2 con un nivel de significación de p ≤ 0,05. Resultados: Se observó predominio del fenotipo O (49,24 %) seguido del A (35,79 %), B (12,68 %) y AB (2,27 %) respectivamente. Los fenotipos O y B presentaron significación estadística para la ocurrencia de la COVID-19, con valores de p < 0,05. No se encontró significación estadística en cuanto al predominio de un fenotipo particular y la necesidad de cuidados intensivos. Conclusiones: La relación del grupo sanguíneo ABO en la infectividad por SARS-CoV-2 y la gravedad de la enfermedad por la COVID-19 requiere estudios adicionales ya que los actuales no son concluyentes.

Introduction: Different studies have proposed the relationship between the blood groups of ABO system and the susceptibility to COVID-19 and its importance in the course of the disease. Objective: To determine the phenotypic frequency of ABO and RhD blood groups in a group of patients with active SARS-CoV-2 infection. Methods: A descriptive, cross-sectional, case-control study was conducted to determine the ABO and RhD phenotypic frequency in a group of patients with COVID-19 active disease. Nine hundred twenty eight blood samples and 1050 samples belonging to healthy individuals as control group were studied. The ABO and RhD blood group was determined by the tube agglutination method with anti-A, anti-B, anti-A+B, and anti-D blood classifying sera. The results were expressed in absolute and relative frequencies and the association of the blood group with the severity of the disease was determined by the non-parametric χ2 test with a significance level of p ≤ 0.05. Results: A predominance of phenotype O (49.24%) was observed, followed by A (35.79%), B (12.68%) and AB (2.27%) respectively. The O and B phenotypes showed statistical significance for the occurrence of COVID-19, with p values < 0.05. No statistical significance was found regarding the prevalence of a particular phenotype and the need for intensive care. Conclusions: The relationship of the ABO blood group in the infectivity of SARS-CoV-2 and the severity of the disease by COVID-19 requires additional studies, since the current ones are not conclusive.

Fenotipos hipertrigliceridemia e hipertensión-cintura abdominal alterada y su asociación con factores de riesgo cardiovascular en mujeres atendidas en Consulta Provincial de Climaterio

Fundamento: la presencia de fenotipos hipertensión- circunferencia abdominal aumentada se considera un índice pronóstico de deterioro cardiometabólico. Objetivo: determinar la frecuencia de mujeres con fenotipos cintura alterada y establecer la asociación entre estos y los principales factores de riesgo cardiovascular, así como estimar el riesgo cardiovascular global a los 10 años. Métodos estudio descriptivo, correlacional, transversal, que incluyó a 100 mujeres que asistieron a Consulta Provincial de Climaterio, del Hospital Gustavo Aldereguìa, de Cienfuegos, desde marzo 2016 a 2020. Variables analizadas: edad, color de piel, tabaquismo, hipertensión arterial, obesidad, actividad física, diabetes mellitus, índice de masa corporal, circunferencia abdominal, colesterol total, ácido úrico y triglicéridos. Se determinó la razón de prevalencia con un nivel de significación del 95 %. Resultados: la razón de probabilidad demostró mayor riesgo de presentar el fenotipo en mayores de 45 años (1,47), obesas (5,57), hipertensas (3,71) y diabéticas (1,67). Se evidenció asociación significativa entre hábito de fumar y actividad física con razón de probabilidad de 5,80 y 18 respectivamente. Conclusiones: existe una relación significativa entre fenotipos cintura abdominal alterada y los principales factores de riesgo cardiovasculares, como incremento de la edad, riesgo cardiovascular, diabetes mellitus, hipertensión arterial, tabaquismo, inactividad física y obesidad.

Background: the presence of hypertension-increased abdominal circumference phenotypes is considered a cardiometabolic deterioration prognostic index. Objective: to determine the frequency of women with altered waist phenotypes and to establish the association between these and the main cardiovascular risk factors, as well as to estimate the global cardiovascular risk at 10 years. Methods: descriptive, correlational, cross-sectional study, which included 100 women who attended the Provincial Climacteric Consultation, at the Gustavo Aldereguía Lima Cienfuegos Hospital, from March 2016 to 2020. The analyzed variables were: age, skin color, smoking, arterial hypertension, obesity, physical activity, diabetes mellitus, body mass index, abdominal circumference, total cholesterol, uric acid, and triglycerides. The prevalence ratio was determined with a significance level of 95%. Results: the likelihood ratio showed a higher risk of presenting the phenotype in people over 45 years of age (1.47), obese (5.57), hypertensive (3.71) and diabetic (1.67). A significant association was found between smoking and physical activity with a probability ratio of 5.80 and 18, respectively. Conclusions: there is a significant relationship between altered abdominal waist phenotypes and the main cardiovascular risk factors, such as increased age, cardiovascular risk, diabetes mellitus, arterial hypertension, smoking, physical inactivity and obesity.

Patrón inflamatorio de las vías aéreas en pacientes fumadores con enfermedad pulmonar obstructiva crónica / Inflammatory pattern of the airways in COPD smokers

Introducción: La enfermedad pulmonar obstructiva crónica cursa con un patrón inflamatorio en la vía aérea que incluye neutrófilos, macrófagos, linfocitos, los cuales se pueden obtener mediante un cepillado bronquial citológico. Objetivos: Identificar patrón inflamatorio según células inflamatorias presentes en la vía aérea, mediante el cepillado bronquial citológico e índice tabáquico de paquetes/año en pacientes con enfermedad pulmonar obstructiva crónica. Métodos: Se realizó un estudio descriptivo transversal en pacientes con enfermedad pulmonar obstructiva crónica, que concurrieron al Hospital Neumológico Benéfico-Jurídico, en el período comprendido de junio de 2018 a junio de 2019, con indicación para la realización de fibrobroncoscopía con cepillado bronquial. Resultados: El 53,1 por ciento de los pacientes corresponden al sexo masculino. Un 46,1 por ciento presentó un índice tabáquico de paquetes/año entre 21-40. Predominaron las criptas y estrías como hallazgos broncoscópicos con un 51 por ciento y 40,8 por ciento respectivamente en pacientes con índice paquetes/año mayor que 40. De los pacientes con índice paquetes/año mayor de 40 (13 para un 26,5 por ciento) presentaron hiperplasia de células basales. El 46,9 por ciento de los pacientes presentaron un patrón inflamatorio neutrofílica. Conclusiones: Se identificaron a los pacientes con EPOC que presentaron patrón inflamatorio neutrofílica en la vía aérea y elevado índice tabáquico y desde el punto de vista broncoscópico tienen varios hallazgos que sugieren cronicidad(AU)

Introduction: Chronic obstructive pulmonary disease presents with an inflammatory pattern in the airway that includes neutrophils, macrophages, and lymphocytes, which can be obtained by cytological bronchial brushing. Objectives: To identify inflammatory pattern according to inflammatory cells present in the airway, through cytological bronchial brushing and smoking rate of packs/year in patients with chronic obstructive pulmonary disease. Methods: A cross-sectional descriptive study was carried out in patients with chronic obstructive pulmonary disease, who attended Benefico-Jurídico Pneumological Hospital, from June 2018 to June 2019, with an indication for fiberoptic bronchoscopy with bronchial brushing. Results: 53.1percent of the patients correspond to the male sex. 46.1percent ad a smoking rate of packs/year between 21-40. Crypts and striae predominated as bronchoscopic findings with 51percent and 40.8percent respectively in patients with a pack/year index greater than 40. Patients with a pack/year index greater than 40 (13 for 26.5percent) showed basal cell hyperplasia. 46.9percent of the patients had a neutrophilic inflammatory pattern. Conclusions: Patients with COPD who had a neutrophilic inflammatory pattern in the airway and high smoking index were identified, and from the bronchoscopic point of view they have several findings that suggest chronicity(AU)

Lack of association between metabolic phenotype and food consumption by degree of food processing: results from the Study of Workers' Health (ESAT) / Falta de asociación del fenotipo metabólico con el consumo de alimentos por grado de procesamiento de alimentos: resultados del Estudio de la Salud de los Trabajadores (ESAT)

Introduction: an increase in the consumption of processed and ultra-processed foods may predispose to metabolic abnormalities. Objective: to verify the association of food consumption with metabolic phenotype in workers from a quaternary hospital in Rio de Janeiro, Brazil. Methods: workers of both sexes aged > 18 years were eligible. A food frequency questionnaire and the NOVA classification were used in the food consumption analysis. Metabolic phenotype considered the presence of at least one metabolic alteration (blood glucose, serum lipids, and blood pressure) combined with BMI (eutrophic or excess weight) as follows: 1) metabolically healthy eutrophic (MHE); 2) metabolically unhealthy eutrophic (MUE); 3) metabolically healthy excess weight (MHEW); 4) metabolically unhealthy excess weight (MUEW). Results: from the included 160 participants (mean age, 45.2 ± 1.1 years; 59.4 %, women), 21.9 % self-reported arterial hypertension and 4.4 % diabetes. Most presented excess weight (74.6 %), with approximately 40 % being obese. The MUEW phenotype had higher body fat percentage and central adiposity represented by higher WC and VFA in comparison to the other phenotypes. The lean body mass was similar between the groups. The median of ultra-processed foods was 32.4 % for eutrophic, 32.7 % for overweight, and 34.3 % for obese subjects. No significant associations were observed between ultra-processed food consumption and metabolically unhealthy eutrophic (OR: 1.01; 95 % CI: 0.96-1.06), metabolically healthy excess weight (OR: 1.03; 95 % CI: 0.98-1.08), and metabolically unhealthy excess weight (OR: 1.00; 95 % CI: 0.96-1.05) in comparison to metabolically healthy eutrophic. (AU)

Introducción: el incremento del consumo de alimentos procesados y ultraprocesados puede predisponer a alteraciones metabólicas. Objetivo: verificar la asociación del consumo de alimentos con el fenotipo metabólico en trabajadores de un hospital cuaternario de Rio de Janeiro, Brasil. Métodos: fueron elegibles trabajadores de ambos sexos de edad > 18 años. El cuestionario de frecuencia de alimentos y la clasificación NOVA se utilizaron en el análisis del consumo de alimentos. El fenotipo metabólico consideró la presencia de al menos una alteración metabólica (glucemia, lípidos séricos y presión arterial) combinada con el IMC (eutrófico o exceso de peso) de la siguiente manera: 1) eutrófico metabólicamente saludable (EHM); 2) eutróficos metabólicamente no saludables (MUE); 3) exceso de peso metabólicamente saludable (MHEW); 4) exceso de peso metabólicamente no saludable (MUEW). Resultados: de los 160 participantes incluidos (edad media: 45,2 ± 1,1 años, 59,5 % de mujeres), el 21,9 % refirieron hipertensión arterial y el 4,4 % diabetes. La mayoría presentaron exceso de peso (74,6 %), siendo aproximadamente un 40 % obesos. El fenotipo MUEW presentó mayor porcentaje de grasa corporal y adiposidad central representada por mayor CC y VFA en comparación con los otros fenotipos. La masa corporal magra fue similar entre los grupos. La mediana de alimentos ultraprocesados fue de 32,4 % para los eutróficos, 32,7 % para el sobrepeso y 34,3 % para los obesos. No se observaron asociaciones significativas entre el consumo de ultraprocesados y el fenotipo eutrófico metabólicamente no saludable (OR: 1,01; IC 95 %: 0,96-1,06), exceso de peso metabólicamente saludable (OR: 1,03; IC 95 %: 0,98-1,08) y exceso de peso metabólicamente no saludable (OR: 1,00; IC 95 %: 0,96-1,05) en comparación con los eutróficos metabólicamente sanos. (AU)

Miotonía congénita. Incidencia y presentación de una serie de casos / Congenital myotonia. Incidence and presentation of a series of cases

Introducción: La miotonía congénita es la forma más común de miotonía de causa genética y se produce por mutaciones en el gen CLCN1. Puede heredarse de manera autosómica dominante o recesiva. Presentamos una serie de casos para actualizar su incidencia en nuestro medio, para describir su fenotipo en relación con el genotipo encontrado y, además, revisamos las mutaciones encontradas, entre las que aportamos una nueva alteración no descrita. Casos clínicos. Se revisaron las historias clínicas de pacientes con diagnóstico de miotonía congénita estudiados y seguidos en la consulta de neurología pediátrica en un hospital de tercer nivel entre los años 2015 y 2020. Se recogieron variables demográficas (edad y sexo), curso de la enfermedad (edad de inicio, síntomas y signos, tiempo transcurrido hasta el diagnóstico y evolución clínica), antecedentes familiares y evaluación de la respuesta al tratamiento. Se identificaron cinco casos con diagnóstico clínico de miotonía congénita (tres con enfermedad de Becker y dos con enfermedad de Thomsen). La incidencia en relación con el número de nacimientos la estimamos en 1:15.000 recién nacidos para los casos con fenotipo Becker y en 1:21.000 recién nacidos para los fenotipos Thomsen. Hallamos una mutación probablemente patogénica no descrita previamente (CLCN1: c.824T>C). Conclusiones: La incidencia aproximada en nuestro medio fue superior a la previamente conocida y describimos una nueva mutación no descrita: c.824T>C, con predictores de patogenicidad, que se comportó como un fenotipo recesivo Becker, pero con inicio más temprano.(AU)

Introduction: Myotonia congenita is the most common form of genetic myotonia and is caused by mutations in the CLCN1 gene. It can be inherited in an autosomal dominant or recessive manner. We present a series of cases to update its incidence in our environment, to describe its phenotype in relation to the genotype found, and we also review the mutations found, among which we provide a new, undescribed alteration. Cases report: The medical records of patients with a diagnosis of congenital myotonia studied and followed up in the pediatric neurology section in a tertiary hospital between the years 2015-2020 were reviewed. Demographic variables (age, sex), disease course (age of onset, symptoms and signs, time elapsed until diagnosis, clinical evolution), family history and evaluation of response to treatment were collected. Five cases with a clinical diagnosis of myotonia congenita were identified (three with Becker’s disease and two with Thomsen’s disease). The incidence in relation to the number of births is estimated at 1:15,000 newborns for cases with the Becker phenotype and 1:21,000 newborns for the Thomsen phenotypes. We found a probably pathogenic mutation not previously described (CLCN1: c.824T> C). Conclusions: the approximate incidence in our environment was higher than previously known and we describe a new, undescribed mutation: c.824T> C with pathogenicity predictors that behaved like a Becker recessive phenotype but with an earlier debut.(AU)

Frailty phenotype in heart failure: A condition that transcends age.

INTRODUCTION AND OBJECTIVES: Studies on younger frail and pre-frail subjects suffering from heart failure (HF) are scarce, except for those focusing on the critically ill. This work aims to describe differences between younger (<65 years) and older (≥65 years) pre-frail and frail HF outpatients regarding their nutritional, functional and clinical statuses. METHODS: In this cross-sectional study, a sample of 99 HF frail and pre-frail patients (aged 24-81 years, 38.4% women, 21.2% frail, 59.6% <65 years) was recruited from an HF outpatients' clinic in northern Portugal. Muscle mass was estimated from mid-upper arm muscle circumference. Weight status was assessed using body mass index. Hand grip strength and gait speed were measured. Medical records were reviewed. Associations between participants' characteristics and age were calculated using binary logistic regression. RESULTS: Age was associated with hand grip strength (OR=0.90), gait speed (OR=0.01) and diabetes (OR=4.95). Obesity, muscle mass or heart failure functional classes were not associated with age categories. CONCLUSION: There is an overall lack of differentiation between younger and older HF patients with the frailty phenotype. Therefore, frailty phenotype should be assessed in all patients, regardless of age. Hand grip strength seems to be a good predictor for older age and more studies are needed to define age-specific hand grip strength cut-offs for HF populations.

Lack of association between metabolic phenotype and food consumption by degree of food processing: results from the Study of Workers' Health (ESAT).

Introduction: Introduction: an increase in the consumption of processed and ultra-processed foods may predispose to metabolic abnormalities. Objective: to verify the association of food consumption with metabolic phenotype in workers from a quaternary hospital in Rio de Janeiro, Brazil. Methods: workers of both sexes aged > 18 years were eligible. A food frequency questionnaire and the NOVA classification were used in the food consumption analysis. Metabolic phenotype considered the presence of at least one metabolic alteration (blood glucose, serum lipids, and blood pressure) combined with BMI (eutrophic or excess weight) as follows: 1) metabolically healthy eutrophic (MHE); 2) metabolically unhealthy eutrophic (MUE); 3) metabolically healthy excess weight (MHEW); 4) metabolically unhealthy excess weight (MUEW). Results: from the included 160 participants (mean age, 45.2 ± 1.1 years; 59.4 %, women), 21.9 % self-reported arterial hypertension and 4.4 % diabetes. Most presented excess weight (74.6 %), with approximately 40 % being obese. The MUEW phenotype had higher body fat percentage and central adiposity represented by higher WC and VFA in comparison to the other phenotypes. The lean body mass was similar between the groups. The median of ultra-processed foods was 32.4 % for eutrophic, 32.7 % for overweight, and 34.3 % for obese subjects. No significant associations were observed between ultra-processed food consumption and metabolically unhealthy eutrophic (OR: 1.01; 95 % CI: 0.96-1.06), metabolically healthy excess weight (OR: 1.03; 95 % CI: 0.98-1.08), and metabolically unhealthy excess weight (OR: 1.00; 95 % CI: 0.96-1.05) in comparison to metabolically healthy eutrophic. Conclusion: consumption of ultra-processed food was high. In this cross-sectional analysis, no association of metabolic phenotypes with consumption of food groups according to degree of food processing were observed.

Introducción: Introducción: el incremento del consumo de alimentos procesados y ultraprocesados puede predisponer a alteraciones metabólicas. Objetivo: verificar la asociación del consumo de alimentos con el fenotipo metabólico en trabajadores de un hospital cuaternario de Rio de Janeiro, Brasil. Métodos: fueron elegibles trabajadores de ambos sexos de edad > 18 años. El cuestionario de frecuencia de alimentos y la clasificación NOVA se utilizaron en el análisis del consumo de alimentos. El fenotipo metabólico consideró la presencia de al menos una alteración metabólica (glucemia, lípidos séricos y presión arterial) combinada con el IMC (eutrófico o exceso de peso) de la siguiente manera: 1) eutrófico metabólicamente saludable (EHM); 2) eutróficos metabólicamente no saludables (MUE); 3) exceso de peso metabólicamente saludable (MHEW); 4) exceso de peso metabólicamente no saludable (MUEW). Resultados: de los 160 participantes incluidos (edad media: 45,2 ± 1,1 años, 59,5 % de mujeres), el 21,9 % refirieron hipertensión arterial y el 4,4 % diabetes. La mayoría presentaron exceso de peso (74,6 %), siendo aproximadamente un 40 % obesos. El fenotipo MUEW presentó mayor porcentaje de grasa corporal y adiposidad central representada por mayor CC y VFA en comparación con los otros fenotipos. La masa corporal magra fue similar entre los grupos. La mediana de alimentos ultraprocesados fue de 32,4 % para los eutróficos, 32,7 % para el sobrepeso y 34,3 % para los obesos. No se observaron asociaciones significativas entre el consumo de ultraprocesados y el fenotipo eutrófico metabólicamente no saludable (OR: 1,01; IC 95 %: 0,96-1,06), exceso de peso metabólicamente saludable (OR: 1,03; IC 95 %: 0,98-1,08) y exceso de peso metabólicamente no saludable (OR: 1,00; IC 95 %: 0,96-1,05) en comparación con los eutróficos metabólicamente sanos. Conclusión: el consumo de alimentos ultraprocesados fue elevado. En este análisis transversal, no se observó asociación de fenotipos metabólicos y consumo de grupos de alimentos según el grado de procesamiento de los alimentos.