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 / 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.

Increased yield performance of mutation induced Soybean genotypes at varied agro-ecological conditions / Aumento no desempenho de rendimento de genótipos de soja induzidos por mutação em condições agroecológicas variadas

Abstract In soybean breeding program, continuous selection pressure on traits response to yield created a genetic bottleneck for improvements of soybean through hybridization breeding technique. Therefore an initiative was taken to developed high yielding soybean variety applying mutation breeding techniques at Plant Breeding Division, Bangladesh Institute of Nuclear Agriculture (BINA), Bangladesh. Locally available popular cultivar BARI Soybean-5 was used as a parent material and subjected to five different doses of Gamma ray using Co60. In respect to seed yield and yield attributing characters, twelve true breed mutants were selected from M4 generation. High values of heritability and genetic advance with high genotypic coefficient of variance (GCV) for plant height, branch number and pod number were considered as favorable attributes for soybean improvement that ensure expected yield. The mutant SBM-18 obtained from 250Gy provided stable yield performance at diversified environments. It provided maximum seed yield of 3056 kg ha-1 with highest number of pods plant-1 (56). The National Seed Board of Bangladesh (NSB) eventually approved SBM-18 and registered it as a new soybean variety named 'Binasoybean-5' for large-scale planting because of its superior stability in various agro-ecological zones and consistent yield performance.

Resumo No programa de melhoramento da soja, a pressão pela seleção contínua para a resposta das características de rendimento criou um gargalo genético para melhorias da soja por meio da técnica de melhoramento por hibridação. Portanto, foi desenvolvida uma variedade de soja de alto rendimento, aplicando técnicas de reprodução por mutação, na Divisão de Melhoramento de Plantas, no Instituto de Agricultura Nuclear de Bangladesh (BINA), em Bangladesh. A cultivar popular BARI Soybean-5, disponível localmente, foi usada como material original e submetida a cinco doses diferentes de raios gama usando Co60. Em relação ao rendimento de sementes e às características de atribuição de rendimento, 12 mutantes genuínos foram selecionados a partir da geração M4. Altos valores de herdabilidade e avanço genético com alto coeficiente de variância genotípico (GCV) para altura da planta, número de ramos e número de vagens foram considerados atributos favoráveis ​​ao melhoramento da soja, garantindo, assim, a produtividade esperada. O mutante SBM-18, obtido a partir de 250Gy, proporcionou desempenho de rendimento estável em ambientes diversificados e produtividade máxima de sementes de 3.056 kg ha-1 com o maior número de vagens planta-1 (56). O Conselho Nacional de Sementes de Bangladesh (NSB) finalmente aprovou o SBM-18 e o registrou como uma nova variedade de soja, chamada 'Binasoybean-5', para plantio em larga escala por causa de sua estabilidade superior em várias zonas agroecológicas e desempenho de rendimento consistente.

Prevalencia de subtipos de cáncer de mama y su asociación con factores reproductivos / Prevalence of breast cancer subtypes and their association with reproductive factors

Introducción: Los factores reproductivos se asocian con cáncer de mama. Actualmente se estudia el comportamiento según subtipos moleculares. Objetivo: Establecer la prevalencia de estos subtipos y su asociación con factores reproductivos en mujeres atendidas en centros del nororiente colombiano. Método: Estudio observacional de corte transversal, en mujeres con cáncer de mama subtipos luminales y HER2 durante 2012-2021. Se indagaron variables sociodemográficas, factores reproductivos y estadio tumoral. Resultados: En total, 347 pacientes cumplieron criterios de elegibilidad, correspondiendo a luminal A el 49,8% (intervalo de confianza del 95% [IC95%]: 44,5-55,1), a luminal B el 29,1% (IC95%: 24,3-33,9) y a HER2 el 15,5% (IC95%: 11,7-19,4). Las mujeres con tumores de mama luminal B tenían más riesgo de tener estadios localmente avanzados (odds ratio [OR]: 1,83; IC95%: 1,11-3,01; p = 0,02). Agrupando los subtipos luminales frente a HER2 se encontró que el 40,72% de las pacientes con subtipos luminales no habían lactado, frente al 69,71% con HER2 (diferencia estadísticamente significativa a favor de luminal A; OR: 1,91; IC95%: 1,02-3,53; p = 0,041). Conclusiones: La prevalencia de tumores luminales es del 84,5%. Existe asociación diferencial entre el antecedente de lactancia materna y la aparición de subtipos luminales, es decir, las mujeres que no lactaron se corresponden con mayor frecuencia con HER2. No se estableció asociación con otros factores estudiados.

Introduction: Stimulus-estrogenic factors are associated with breast cancer. Currently, the behavior according to molecular subtypes is being studied. Objective: To establish the prevalence of these subtypes and their association with reproductive factors in women attended in centers in northeastern Colombia. Method: Observational cross-sectional study in women with breast cancer subtypes luminal and HER2 during 2012 -2021. Sociodemographic variables, stimulus-estrogenic factors and tumor stage were investigated. Results: In total, 347 patients met eligibility criteria, corresponding to luminal A 49.8% (95% confidence interval [95%CI]: 44.5-55.1), luminal B 29.1% (95%CI: 24.3-33.9) and HER2 15.5% (95%CI: 11.7-19.4). Women with luminal B breast tumors were at higher risk of having locally advanced stages (odds ratio [OR]: 1.83; 95%CI: 1.11-3.01; p = 0.02). Grouping the luminal subtypes versus HER2 showed that 40.72% of patients with luminal subtypes had not lactated, compared to 69.71% HER2 (statistically significant difference in favor of luminal A; OR: 1.91; 95%CI: 1.02-3.53; p = 0.041). Conclusions: The prevalence of luminal tumors is 84.5%. There is a differential association between the history of breastfeeding and the appearance of luminal subtypes, i.e., women who did not breastfeed are more likely to have HER2. No association was established with other factors studied.

Genotipificación del gen RHD en ADN fetal libre en plasma de embarazadas RhD negativo / Genotyping of the RHD gene in free fetal DNA in plasma of RhD negative pregnant women

Objetivo: Determinar el grupo RhD fetal a través del estudio del gen RHD en ADN fetal que se encuentra libre en plasma de embarazadas RhD negativo. Método: Se analizó la presencia de los genes RHD, SRY y BGLO en ADNfl obtenido de plasma de 51 embarazadas RhD negativo no sensibilizadas, utilizando una qPCR. Los resultados del estudio genético del gen RHD se compararon con el estudio del grupo sanguíneo RhD realizado por método serológico en muestras de sangre de cordón, y los resultados del estudio del gen SRY fueron cotejados con el sexo fetal determinado por ecografía. Se calcularon la sensibilidad, la especificidad, los valores predictivos y la capacidad discriminativa del método estandarizado. Resultados: El gen RHD estaba presente en el 72,5% de las muestras y el gen SRY en el 55,5%, coincidiendo en un 100% con los resultados del grupo RhD detectado en sangre de cordón y con el sexo fetal confirmado por ecografía, respectivamente. Conclusiones: Fue posible deducir el grupo sanguíneo RhD del feto mediante el estudio del ADN fetal que se encuentra libre en el plasma de embarazadas con un método molecular no invasivo desarrollado y validado para este fin. Este test no invasivo puede ser utilizado para tomar la decisión de administrar inmunoglobulina anti-D solo a embarazadas RhD negativo que portan un feto RhD positivo.

Objective: To determine the fetal RhD group through the study of the RHD gene in fetal DNA found free in plasma of RhD negative pregnant women. Method: The presence of the RHD, SRY and BGLO genes in fetal DNA obtained from plasma of 51 non-sensitized RhD negative pregnant women was analyzed using qPCR. The results of the genetic study of the RHD gene were compared with the RhD blood group study performed by serological method in cord blood samples, and the results of the SRY gene study were compared with the fetal sex determined by ultrasound. Sensitivity, specificity, predictive values and discriminative capacity of the standardized method were calculated. Results: The RHD gene was present in 72.5% of the samples and the SRY gene in 55.5%, coinciding 100% with the results of the RhD group detected in cord blood, and with the fetal sex confirmed by ultrasound, respectively. Conclusions: It was possible to deduce the RhD blood group of the fetus through the study of fetal DNA found free in the plasma of pregnant women with a non-invasive molecular method developed and validated for this purpose. This non-invasive test can be used to make the decision to administer anti-D immunoglobulin only to RhD-negative pregnant women carrying an RhD-positive fetus.

Identification of antarctic soil bacteria exhibiting antiproliferative activity against a colon cancer cell line / Identificación de bacterias de suelo antártico que presentan actividad antiproliferativa sobre una línea celular de cáncer de colon

SUMMARY: Cancer is the second leading cause of death in the world and colorectal cancer is the only cancer that has shown a sustained increase in mortality in the last decade. In the search for new chemotherapeutic agents against cancer, extremophilic microorganisms have shown to be a potential source to obtain molecules of natural origin and with selective cytotoxic action towards cancer cells. In this work we analyzed the ability of a collection of Antarctic soil bacteria, isolated on Collins Glacier from the rhizosphere of Deschampsia antarctica Desv plant, to secrete molecules capable of inhibiting cell proliferation of a colorectal cancer tumor line. Our results demonstrated that culture supernatants from the Antarctic bacteria K2I17 and MI12 decreased the viability of LoVo cells, a colorectal adenocarcinoma cell line. Phenotypic and genotypic characterization of the Antarctic bacteria showed that they were taxonomically related and nucleotide identity analysis based on the 16S rRNA gene sequence identified the bacterium K2I17 as a species belonging to the genus Bacillus.

El cáncer es la segunda causa de muerte en el mundo y el cáncer colorrectal es el único que presenta un aumento sostenido de la mortalidad en la última década. En la búsqueda de nuevos agentes quimioterapeúticos contra el cáncer, se ha propuesto a los microorganismos extremófilos como una fuente potencial para obtener moléculas de origen natural y con acción citotóxica selectiva hacia las células cancerígenas. En este trabajo analizamos la capacidad de una colección de bacterias de suelo antártico, aisladas en el glaciar Collins desde rizosfera de la planta de Deschampsia antarctica Desv, de secretar moléculas capaces de inhibir la proliferación celular de una línea tumoral de cáncer colorrectal. Nuestros resultados demostraron que los sobrenadantes de cultivo de las bacterias antárticas K2I17 y MI12 disminuyeron la viabilidad de la línea celular de adenocarcinoma colorrectal LoVo, en un ensayo de reducción metabólica de MTT. La caracterización fenotípica y genotípica de las bacterias antárticas, demostró que estaban relacionadas taxonómicamente y el análisis de la identidad nucleotídica en base a la secuencia del gen ARNr 16S identificó a la bacteria K2I17 como una especie perteneciente al género Bacillus.

Actualización del consenso chileno SOCHINEP-SER para el manejo de las sibilancias recurrentes del preescolar / Update of the chilean consensus SOCHINEP-SER for the management of recurrent wheezing in preschool children

Las sibilancias recurrentes del preescolar son un problema prevalente. 50% de todos los niños tiene al menos un episodio de sibilancias en los primeros 6 años. Sin embargo, solo 4% de los menores de 4 años tiene diagnóstico de asma. Por este motivo es fundamental realizar una adecuada anamnesis y examen físico tendientes a descartar causas secundarias, lo que debe ser complementado con exámenes de laboratorio de acuerdo con la orientación clínica. En la actualidad se recomienda indicar tratamiento de mantención con corticoides inhalados en aquellos niños que tengan episodios repetidos de obstrucción bronquial y que tengan una alta probabilidad de respuesta favorable a esta terapia. Se ha demostrado que aquellos pacientes que tienen un recuento de eosinófilos en sangre > 300 células por mm3 o aquellos que presentan una prueba cutánea positiva o IgE específicas positivas para alergenos inhalados responderán adecuadamente al tratamiento con esteroides inhalados.

Recurrent wheezing in preschoolers has a high prevalence. 50% of all children have at least one wheezing episode in the first six years of life. However, only 4% of children under four years of age are diagnosed with asthma. Therefore it is essential to carry out an adequate medical history and physical examination to rule out secondary causes, which must be complemented with laboratory tests in accordance with clinical guidance. It is recommended to indicate maintenance treatment with inhaled corticosteroids to those children who have repeated episodes of wheezing and who have a high probability of a good response to this therapy. It has been demonstrated that those patients who have blood eosinophil count > 300 cells per mm3 or those who have a positive skin test or positive specific IgE for inhaled allergens will have a good response to inhaled corticosteroids.

Actualización del consenso chileno SOCHINEP-SER para el manejo de las sibilancias recurrentes del preescolar / Update of the chilean consensus SOCHINEP-SER for the management of recurrent wheezing in preschool children

Las sibilancias recurrentes del preescolar son un problema prevalente. 50% de todos los niños tiene al menos un episodio de sibilancias en los primeros 6 años. Sin embargo, solo 4 % de los menores de 4 años tiene diagnóstico de asma. Por este motivo es fundamental realizar una adecuada anamnesis y examen físico tendientes a descartar causas secundarias, lo que debe ser complementado con exámenes de laboratorio de acuerdo con la orientación clínica. En la actualidad se recomienda indicar tratamiento de mantención con corticoides inhalados en aquellos niños que tengan episodios repetidos de obstrucción bronquial y que tengan una alta probabilidad de respuesta favorable a esta terapia. Se ha demostrado que aquellos pacientes que tienen un recuento de eosinófilos en sangre > 300 células por mm3 o aquellos que presentan una prueba cutánea positiva o IgE específicas positivas para alérgenos inhalados, responderán adecuadamente al tratamiento con esteroides inhalados.

Recurrent wheezing in preschoolers has a high prevalence. 50% of all children have at least one wheezing episode in the first six years of life. However, only 4% of children under four years of age are diagnosed with asthma. Therefore, it is essential to carry out an adequate medical history and physical examination to rule out secondary causes, which must be complemented with laboratory tests in accordance with clinical guidance. It is recommended to indicate maintenance treatment with inhaled corticosteroids to those children who have repeated episodes of wheezing and who have a high probability of a good response to this therapy. It has been demonstrated that those patients who have blood eosinophil count > 300 cells per mm3 or those who have a positive skin test or positive specific IgE for inhaled allergens will have a good response to inhaled corticosteroids.

Fenotipo motor y disautonomía cardiovascular de pacientes con enfermedad de Parkinson en la consulta de neurología de un hospital en Táchira (Venezuela) / Motor phenotype and cardiovascular dysautonomia in patients with Parkinson's disease from a neurology outpatient clinic in Táchira (Venezuela)

RESUMEN INTRODUCCIÓN: La enfermedad de Parkinson es un trastorno neurodegenerativo frecuente que se caracteriza por manifestaciones de tipo motor y no motor, tales como disautonomía, trastornos del sueño, disfunción sexual, alteraciones psiquiátricas y cognitivas, entre otros. Según su fenotipo motor, se puede clasificada en tremórica dominante (TD), dificultad para la marcha/inestabilidad postural (DMI) y un fenotipo indeterminado. En el estudio se determina la influencia del fenotipo motor en la disautonomía cardiovascular del paciente con Parkinson en los pacientes de la consulta de neurología del hospital del IVSS "Dr. Patrocinio Peñuela Ruiz" entre mayo del 2015 y abril del 2016. METODOS: Estudio observacional, descriptivo, transversal en pacientes mayores de 40 años con EP idiopática. Se evaluó el MDS-UPDRS, Hoehn y Yahr, Scopa-AUT , Hipotensión Ortostática y Rines-Valcardi. RESULTADOS: Se obtuvo una muestra de 57 pacientes; luego de la aplicación de los criterios de inclusión y exclusión se estudiaron 37 sujetos. Todos los pacientes tuvieron algún grado de disautonomía (medida con la escala Scopa-AUT). El Scopa-AUT fue mayor en los pacientes con hipotensión ortostática (p = ,003), observándose igual diferencia para la subescala cardiovascular (p = ,026). Se observó que la neuropatía autonómica (medida con Rines-Valcardi) fue más frecuente en aquellos pacientes con fenotipo DMI (p = < ,001), y que la hipotensión ortostática fue también más frecuente en aquellos pacientes con dicho fenotipo (DMI) (p = ,016). CONCLUSIÓN: La presencia de disautonomía es frecuente en los pacientes con EP; hubo diferencias en la puntuación total y la subescala cardiovascular del Scopa-AUT, de acuerdo CON la presencia de hipotensión ortostática; aquellos sujetos que cursan con fenotipo motor DMI tienen mayor riesgo de presentar hipotensión ortostática y neuropatía autonómica cardíaca.

ABSTRACT INTRODUCTION: Parkinson's disease is a frequent neurodegenerative disorder characterized by motor and non-motor manifestations, such as dysautonomia, sleep disorders, sexual dysfunction, and psychiatric and cognitive disorders. It can be classified according to their motor phenotype in tremor-dominant (TD), postural instability/gait difficulty (DMI), and indeterminate subtypes. This study established the influence of motor phenotype on the cardiovascular dysautonomia of patients with Parkinson's disease from the neurology outpatient clinic at the IVSS hospital "Dr. Patrocinio Peñuela Ruiz," from May 2015 to April 2016. METHODS: Observational, descriptive, cross-sectional study in patients older than 40 years with idiopathic PD. The MDS-UPDRS scale, Hoehn and Yahr scale, Scopa-AUT scale, Orthostatic Hypotension, and RINES-VALCARDI were evaluated. RESULTS: A sample of 57 was obtained, and after applying inclusion and exclusion criteria, 37 subjects were studied. All the patients had some degree of dysautonomia (measured with SCOPA- AUT scale). The SCOPA-AUT was higher in patients with orthostatic hypotension (p= .003), finding this same difference for the cardiovascular subscale (p = .026). Both autonomic neuropathy (measured with RINES-VALCARDI) and orthostatic hypotension were found more frequently on the DMI phenotype (p= <.001 and p=.016). CONCLUSION: Dysautonomia is frequent in PD patients; there was a difference between SCOPA-AUT total score and cardiovascular subscale according to orthostatic hypotension; those with DMI phenotype have a greater risk of orthostatic hypotension and cardiac autonomic neuropathy.

Fenotipos inesperados en el síndrome de Alport: la necesidad del estudio genético / Unexpected phenotypes in Alport syndrome: the need for genetic testing

El diagnóstico del síndrome de Alport supone un reto en la edadpediátrica, debido a la ausencia de fenotipos clínicos esperados de la enfermedad, su clásica caracterización de entidad rara y la práctica muy restringida de biopsias renales con análisis rutinario de la muestra por microscopía electrónica durante la infancia. Se presentan las características clínicas y genéticas de 6 pacientes pediátricos (4 mujeres) diagnosticados de síndromede Alport en dos centros hospitalarios entre 2018 y 2021. Todos los pacientes presentaron un debut clínico claramente diferente y ninguno presentó complicaciones auditivas nioftalmológicas. La mitad carecía de antecedentes familiares de enfermedad renal crónica. Ninguna biopsia renal realizada confirmó el diagnóstico. Todos los pacientes fueron confirmadosgenéticamente y fueron el caso índice del estudio familiar. Esta serie ilustra la presencia de fenotipos clínicos inesperados en el síndrome de Alport y refleja la necesidad de incorporar el estudio genético para su diagnóstico.

The diagnosis of Alport syndrome is a challenge in the pediatric age, due to the absence of expected clinical phenotypes of the disease, its classic characterization of a rare disease and the very restricted practice of renal biopsies with routine analysis of the sample by electron microscopy during infancy. The clinical and genetic characteristics of 6 pediatric patients (4 women) diagnosed with Alport syndrome in two hospital centers between 2018 and 2021 are reported. All patients presented a clearly different clinical debut and none presented auditory or ophthalmological complications. Half had no family history of chronic kidney disease. No kidney biopsy performed confirmed the diagnosis. All patients were genetically confirmed and were the index case in the family study. This series illustrates the presence of unexpected clinical phenotypes in Alport syndrome and reflects the need for the incorporation of the genetic study for its diagnosis.

Displasia frontometafisaria 2 asociada con deformidad torácica e hipertensión arterial pulmonar: a propósito de un caso y revisión bibliográfica / Frontometaphyseal dysplasia 2 associated with thoracic deformity, and pulmonary arterial hypertension: a case report and review of literature

La displasia frontometafisaria 2 (DFM2) es una enfermedad rara causada por una mutación en el gen MAP3K7. En este artículo, se informa sobre un paciente de 7 años con DFM2 causada por una variante nueva de corte y empalme en MAP3K7. El paciente presenta las características frecuentes de la DFM2, pero algunas nunca antes informadas. No se dispone de una descripción sistemática de las características de las imágenes tomográficas de la DFM2. Describimos ciertas diferencias en las características de la DFM2, la bibliografía publicada y las manifestaciones imagenológicas generales de la DFM2. Este caso resalta la importancia del valor clínico de la tomografía computada (TC) y la renderización de volúmenes (VR) en el diagnóstico de la DFM2. Las características de la DFM2 pueden observarse claramente en los estudios tomográficos, lo que señala la gran importancia de la TC para el diagnóstico y el tratamiento precoces de los pacientes con DFM2.

Frontometaphyseal dysplasia 2 (FMD2) is a rare disease caused by MAP3K7 gene mutation. We report a 7-year-old sporadic patient with FMD2 due to a de novo splicing variant in MAP3K7. He has the common characteristics of FMD2 but also has some characteristics that have never been reported, which increases the clinical phenotype of FMD2. Moreover, no systematic description of the imaging characteristics of FMD2 in computed tomography (CT) is available. In the present work, we found some different features of FMD2, reviewed previous literature, and summarized the general imaging manifestations of FMD2. This case emphasizes the important clinical value of CT and VR in the diagnosis of FMD2. We can clearly find the characteristics of FMD2 by CT examination, indicating its great significance for the prompt diagnosis and treatment of FMD2 patients.

Frequency of Rh and K antigens in blood donors in Riyadh

ABSTRACT Objectives: Investigate the prevalence of Rh and the K antigens and their phenotypes in the red blood cells of blood donors in Riyadh, Saudi Arabia. Methods: This is a retrospective study. The five principal Rh antigens (D, C, c, E, e) and the Kell antigen from the Kell blood group were tested in 4,675 random samples collected from four blood bank centers in Riyadh. Data were collected for seven weeks (from January 4, 2019 to February 28, 2019). Antigens were tested using the TANGO Optimo system. Results: We found that approximately 86% of the donors had the D antigen, 66% had C, 78% had c, 26% had E, 97% had e and 14% had K. The most common Rh phenotypes were R1r (31%) and R1R1 (22%). Conclusion: The differences in the results between the study population and other populations, such as Caucasian, Indian and African populations indicate the importance of establishing a population-specific database.

High prevalence of serological weak D phenotype and preponderance of weak D type 4.0.1. genetic variant in a Nigerian population: implications for transfusion practice in a resource-limited setting

ABSTRACT Introduction: Prevalence of RhD negative phenotype in Nigeria is low; this leads to scarcity of RhD negative red cells for transfusion. Serological and molecular genotyping of RhD negative individuals for weak D types could reduce this scarcity. The aim of this study was to determine the serological prevalence and molecular types of weak D phenotypes among blood donors and pregnant women in Kano, Nigeria. Methods: A total of 4482 blood donors and pregnant women from three hospitals in Kano were recruited. An indirect antiglobulin test was used to determine weak D phenotypes. Molecular genotyping was performed on genomic DNA from whole blood amplified by polymerase chain reaction sequence-specific primers (PCR-SSP) with agarose gel electrophoresis. Results: The mean age of the participants was 26.50 ±5.79 years. The prevalence of the RhD negative phenotype was 4.2% (189/4482). Of the 189 RhD negative phenotypes, 20 (10.6%) were weak D positive. Molecular genotyping of the 20 Weak D positive phenotypes revealed 15 (75%) weak D type 4, of which 11 were due to the RHD*09.03 and RHD*DAR3 (T201R, F223V) polymorphisms and 4, due to RHD* 08.01 and RHD* DFV polymorphisms; 2 (10%) were due to the 602 C>G polymorphism, while the remaining 3 (15%) constituted partial D or other rare weak D types. Conclusion: The prevalence of weak D positive phenotypes is high in this study; weak D type 4 is the most common RhD genetic variant. Routine serologic weak D testing of RhD negative blood and molecular genotyping should be encouraged in resource-limited settings.

Características ecográficas y anomalías congénitas en fetos con síndrome de Down / Ultrasound features and congenital anomalies in fetuses with Down syndrome

Resumen Objetivo: Describir y analizar los hallazgos ecográficos en 97 fetos portadores de síndrome de Down (SD) confirmado. Método: Se incluyeron todas las gestantes con diagnóstico prenatal de SD de nuestro centro, realizado por cariograma o reacción en cadena de la polimerasa cuantitativa fluorescente para aneuploidía. Se analizaron los informes genéticos y ecográficos, y se realizó un seguimiento posnatal. Resultados: De los 97 casos de SD, el 73% de los diagnósticos fueron entre las 11 y 14 semanas. El promedio de edad de las madres fue de 35,7 años. El 83% de los fetos con SD, evaluados a las 11-14 semanas, tuvieron una translucencia nucal ≥ 3,5 mm. Del total de los casos analizados, el 33% fueron portadores de una cardiopatía congénita, correspondiendo el 58% de estas a defectos mayores, principalmente anomalías del tabique auriculoventricular. Un 7,6% de los casos terminaron como mortinato, principalmente durante el tercer trimestre. Conclusiones: El ultrasonido es una herramienta muy sensible para la sospecha prenatal de SD y la detección de sus anomalías asociadas. Consideramos que la información aportada será útil para programar estrategias de pesquisa, organizar el control perinatal y precisar el consejo a los padres de fetos portadores de esta condición.

Abstract Objective: To describe and analyze the ultrasound findings in 97 fetuses with confirmed Down syndrome (DS). Method: All pregnant women with prenatal diagnosis of DS in our center, performed by karyotype or quantitative fluorescent polymerase chain reaction for aneuploidy, were included. Genetic and ultrasound reports were analyzed, as well as postnatal follow-up. Results: Of the 97 cases of DS, 73% of the diagnoses were between 11-14 weeks. The average age of the mothers was 35.7 years. 83% of our fetuses with DS, evaluated between 11-14 weeks, had a nuchal translucency ≥ 3.5 mm. Of the total of the fetuses analyzed, 33% were carriers of congenital heart disease, 58% of these correspond to a major defect, mainly anomalies of the atrioventricular septum. 7.6% of cases ended as stillbirth, mainly during the third trimester. Conclusions: Ultrasound is a very sensitive tool for prenatal suspicion of DS and the detection of its associated abnormalities. We believe that the information provided will be useful to program screening strategies, organize perinatal control and to counselling parents of fetuses carrying this condition.

Variantes citogenéticas en pacientes con síndrome de Turner diagnosticadas en un hospital de tercer nivel de atención en Ecuador / Cytogenetic variants in patients with Turner syndrome diagnosed in a third level care hospital in Ecuador

Resumen Introducción: El Síndrome de Turner (ST) es una alteración cromosómica sexual causada por la ausencia parcial o completa del cromosoma X, además de mosaicismos y otras alteraciones estructurales del cromosoma X o Y; está presente en 1 de 2500 nacidas vivas. Objetivo: Describir las variantes citogenéticas de pacientes con síndrome de Turner y evaluar su asociación con el fenotipo de presentación y la edad del diagnóstico. Método: Estudio retrospectivo de corte transversal de una serie de 82 casos de síndrome de Turner. Los cariotipos fueron realizados utilizando el medio RPMI-1640; las preparaciones de cromosomas se obtuvieron utilizando técnicas estándar y se analizaron mediante bandas GTG con una resolución de 400-450 bandas, donde se contó con 20-50 metafases para reducir la probabilidad de no detección de mosaicismo. Resultados: 45 (55.6%) fueron diagnosticadas, con monosomía clásica del cromosoma X, mientras 29 (35,8%) mostraron anomalías estructurales del cromosoma X y 7 (8,6%) se asociaron a mosaicos numéricos del cromosoma X. Solo 21 (26%) pacientes fueron diagnosticadas por debajo de los 12 años, mientras el resto 60 (74%) se detectaron entre la adolescencia y la adultez. La baja estatura fue una característica universal en todos los grupos de estudio. Conclusiones: Las fórmulas cromosómicas en el síndrome de Turner pueden ser muy variadas y tener diversas implicaciones en el fenotipo; se destaca la baja talla como un criterio clínico relevante en la sospecha clínica.

Abstract Introduction: Turner Syndrome (TS) is a sexual chromosomal alteration caused by the partial or complete absence of the X chromosome, in addition to mosaicisms and other structural alterations of the X or Y chromosome; It is present in 1 in 2,500 live births. Objective: To describe the cytogenetic variants of Turner syndrome patients and to evaluate their association with the phenotype at presentation and age at diagnosis. Methods: Retrospective cross-sectional study of a series of 82 cases of Turner syndrome. Karyotypes were performed using RPMI-1640 medium; Chromosome preparations were obtained using standard techniques and analyzed by GTG banding with a resolution of 400-450 bands where 20-50 metaphases were counted to reduce the probability of missing mosaicism. Results: 45 (55.6%) were diagnosed with classic monosomy of the X chromosome, while 29 (35.8%) showed structural abnormalities of the X chromosome and 7 (8.6%) were associated with numerical mosaics of the X chromosome. Only 21 (26%) patients were diagnosed under 12 years of age, while the rest 60 (74%) were detected between adolescence and adulthood. Short stature was a universal characteristic in all study groups. Conclusions: The chromosomal formulas in Turner syndrome can be variable and have different implications in the phenotype; short stature stands out as a relevant clinical criterion in clinical suspicion.

Function of s100 protein in coronary atherosclerosis / Función de la proteína s100 en aterosclerosis coronaria

SUMMARY: Atherosclerosis is a complex disease whose pathogenesis includes endothelial activation, accumulation of lipids in the subendothelium, formation of foam cells, fat bands and formation of atherosclerotic plaque. These complex mechanisms involve different cell populations in the intimate sub-endothelium, and the S-100 protein family plays a role in a number of extracellular and intracellular processes during the development of atherosclerotic lesions. The aim of this study was to determine the phenotypic characteristics of smooth muscle cells and the consequent expression of S100 protein in atherosclerotic altered coronary arteries in advanced stages of atherosclerosis. 19 samples of right atherosclerotic coronary arteries in stages of fibro atheroma (type V lesion) and complicated lesions (type VI lesion) have been analyzed. According to the standard protocol, the following primary antibodies have been used in the immunohistochemical analysis: a-smooth muscle actin (α-SMA), vimentin and S-100 protein. All analyzed samples have been in advanced stages of atherosclerosis, fibro atheroma (stage V lesions) and complicated lesions (type VI lesions). Most of them have had the structure of a complicated lesion with atheroma or fibro atheroma as a basis, subsequently complicated by disruption (subtype VI a), hemorrhage (subtype VI b) or thrombosis (subtype VI c), as well as by the presence of several complications on the same sample. Marked hypocellularity is present in the subendothelium of plaques. Cell population at plaque margins is characterized by immunoreactivity to α-SMA, vimentin, and S100 protein. Some of these cells accumulate lipids and look like foam cells. In the cell population at the margins of the plaques, smooth muscle cells of the synthetic phenotype are present, some of which accumulate lipids and demonstrate S100 immunoreactivity. Summarizing numerous literature data and our results, we could assume that smooth muscle cells, due to their synthetic and proliferative activity in the earlier stages of pathogenesis, as well as the consequent expression of S100 protein, could accumulate lipids in the earlier stages of atherosclerosis which, in advanced stages analyzed in this study, result in immunoreactivity of foam cells of smooth muscle origin to S100 protein.

RESUMEN: La aterosclerosis es una enfermedad compleja cuya patogenia incluye activación endotelial, acumulación de lípidos en el subendotelio, formación de células espumosas, bandas grasas y formación de placa aterosclerótica. Estos complejos mecanismos involucran diferentes poblaciones celulares en el subendotelio íntimo, y la familia de proteínas S-100 juega un papel en varios procesos extracelulares e intracelulares durante el desarrollo de lesiones ateroscleróticas. El objetivo de este estudio fue determinar las características fenotípicas de las células de músculo liso y la consecuente expresión de la proteína S100 en arterias coronarias alteradas ateroscleróticas en estadios avanzados de aterosclerosis. Se analizaron 19 muestras de arterias coronarias ateroscleróticas derechas en estadios de fibroateroma (lesión tipo V) y lesiones complicadas (lesión tipo VI). Según el protocolo estándar, en el análisis inmunohistoquímico se utilizaron los siguientes anticuerpos primarios: α-actina de músculo liso (α-SMA), vimentina y proteína S-100. Todas las muestras analizadas han estado en estadios avanzados de aterosclerosis, fibroateroma (lesiones estadio V) y lesiones complicadas (lesiones tipo VI). La mayoría de ellos han tenido la estructura de una lesión complicada con ateroma o fibroateroma como base, complicada posteriormente por disrupción (subtipo VI a), hemorragia (subtipo VI b) o trombosis (subtipo VI c), así como por la presencia de varias complicaciones en la misma muestra. La hipocelularidad marcada estaba presente en el subendotelio de las placas. La población celular en los márgenes de la placa se caracterizaba por inmunorreactividad a α-SMA, vimentina y proteína S100. Algunas de estas células acumulan lípidos y parecen células espumosas. En la población celular en los márgenes de las placas, estaban presentes las células de músculo liso de fenotipo sintético, algunas de las cuales acumulaban lípidos y mostraban inmunorreactividad S100. Resumiendo numerosos datos de la literatura y nuestros resultados, podríamos suponer que las células del músculo liso, debido a su actividad sintética y proliferativa en las primeras etapas de la patogénesis, así como la consecuente expresión de la proteína S100, podrían acumular lípidos en las primeras etapas de la aterosclerosis que, en estadios avanzados analizados en este estudio, dan como resultado inmunorreactividad de células espumosas de origen muscular liso a la proteína S100.

Frecuencia de grupos sanguíneos ABO y RhD, en universitarios de El Alto ­ Bolivia / Frequency of ABO and RhD blood groups in university students in El Alto - Bolivia

INTRODUCCIÓN: los sistemas sanguíneos continúan siendo de gran importancia en múltiples disciplinas como la medicina transfusional, genética poblacional, medicina forense, trasplante de órganos entre otras, estas se basan en la determinación de los grupos sanguíneos ABO y Rh. El siguiente trabajo analiza la fenotipificación eritrocitaria en un grupo de estudiantes de la carrera de Bioquímica y Farmacia de 5to, 6to y 7mo semestre, Universidad Franz Tamayo (UNIFRANZ) sede El Alto - Bolivia. MATERIALES Y MÉTODOS: se realizó un estudio descriptivo de serie de casos, determinando los sistemas ABO y RhD, para las pruebas directa e indirecta a fin de evitar discrepancias; utilizando como soporte la técnica de microplaca, regida a controles de calidad en Inmunohematología. RESULTADOS: los resultados mostraron que el 86% eran mujeres, el grupo etario dominante esta entre 18 a 25 años de edad. El sistema ABO determinó el mayor porcentaje al grupo O con un 93%, destacando que no se encontró el grupo AB en el grupo de estudio. El sistema RhD, tuvo 100% de positivos, no encontrándose fenotipos RhD negativo ni variantes ni parciales. CONCLUSIÓN: la fenotipificación de grupos sanguíneos tanto directa e indirecta, a través de la plataforma de microplaca ayuda a evitar errores y discrepancias, tal como lo recomienda el Manual de Inmunohematología en servicios de sangre en Bolivia.

INTRODUCTION Blood systems continue to be of great importance in multiple disciplines such as transfusion medicine, population genetics, forensic medicine and organ transplantation, which are based on the determination of ABO and Rh blood groups. The following work analyzes the erythrocyte phenotyping in a group of students of Biochemistry and Pharmacy of 5th, 6th and 7th semesters, UNIFRANZ, El Alto. MATERIALS AND METHODS A descriptive case series study was carried out, determining the ABO and RhD systems for direct and indirect tests in order to avoid discrepancies; using the microplate technique as support, according to quality controls in Immunohematology. RESULTS The results showed that 86% were women, the dominant age group was between 18 and 25 years of age. The ABO system determined the highest percentage of group O with 93%, highlighting that the AB group was not found in the study group. The RhD system was 100% positive, with no RhD negative phenotypes, neither variant nor partial. CONCLUSION The phenotyping of blood groups, both direct and indirect, through the microplate platform helps to avoid errors and discrepancies, as recommended by the Manual of Immunohematology in blood services in Bolivia.

Caracterización fenotípica de la retinitis pigmentaria asociada a sordera / Phenotypic characterization of retinitis pigmentosa associated with deafness

Introducción. El síndrome de Usher es una alteración genética caracterizada por la asociación de retinitis pigmentaria y sordera. Sin embargo, hay casos con familias en las cuales, a pesar de presentarse dicha asociación, no se puede diagnosticar un síndrome de Usher ni ninguno otro. Objetivo. Reevaluar fenotípicamente a 103 familias con diagnóstico previo de posible síndrome de Usher o retinitis pigmentaria asociada con sordera. Materiales y métodos. Se revisaron las historias clínicas de 103 familias con un posible diagnóstico clínico de síndrome de Usher o retinitis pigmentaria asociada con sordera. Se seleccionaron las familias cuyo diagnóstico clínico no correspondía a un síndrome de Usher típico. Los afectados fueron valorados oftalmológica y audiológicamente. Se analizaron variables demográficas y clínicas. Resultados. Se reevaluaron 14 familias cuyo diagnóstico clínico no correspondía al de síndrome de Usher. De las familias con diagnóstico inicial de síndrome de Usher típico, el 13,6 % recibieron uno posterior de "retinitis pigmentaria asociada con sordera" de "otro síntoma ocular asociado con hipoacusia',' o en forma aislada en una misma familia, de "retinitis pigmentaria" o "hipoacusia'.' Conclusiones. Es fundamental el estudio familiar en los casos en que la clínica no concuerda con el diagnóstico de síndrome de Usher típico. En los pacientes con retinitis pigmentaria asociada con sordera, el diagnóstico clínico acertado permite enfocar los análisis moleculares y, así, establecer un diagnóstico diferencial. Es necesario elaborar guías de nomenclatura en los casos con estos hallazgos atípicos para orientar a médicos e investigadores en cuanto a su correcto manejo.

Introduction: There are several syndromes that associate retinitis pigmentosa with deafness or hearing loss. The most frequent is Usher syndrome, a genetic disorder of autosomal recessive inheritance, which, in some cases, is accompanied by vestibular dysfunction. However, there are cases of families that despite having retinitis pigmentosa associated with deafness, cannot be classified as Usher or other syndromes due to additional findings. Objective: To reassess the phenotypes of 103 families previously diagnosed as possible Usher syndrome and/or retinitis pigmentosa associated with deafness. Materials and methods: We conducted a descriptive and retrospective study by reviewing the medical records of 103 families with a probable clinical diagnosis of Usher syndrome and/or retinitis pigmentosa associated with deafness. Families whose clinical diagnosis did not correspond to the typical Usher syndrome were selected and evaluated ophthalmologically and audiologically. Demographic and clinical variables were analyzed. Results: We selected and then reevaluated 14 families and 55 individuals as they did not correspond to a clinical diagnosis of Usher syndrome; 13.6% of the families initially considered to have typical Usher syndrome were later diagnosed with retinitis pigmentosa associated with deafness, another ocular symptom associated with hearing loss, retinitis pigmentosa, or isolated hearing loss in the same family. Conclusions: Family studies are essential in cases where the symptoms do not match the typical Usher' syndrome. In the cases of retinitis pigmentosa associated with deafness, a correct clinical diagnosis allows for focusing on the molecular analyses to establish a differential diagnosis. The need for nomenclature guidelines on these atypical findings is relevant to aid physicians and researchers in the best approach to these cases.

Tecido Adiposo Epicárdico nos Fenótipos de Insuficiência Cardíaca - Uma Metanálise / Epicardial Adipose Tissue in Heart Failure Phenotypes - A Meta-Analysis

Resumo Fundamento O tecido adiposo epicárdico (TAE) é aumentado em comorbidades comuns na insuficiência cardíaca (IC). Dessa forma, o TAE teria o potencial de mediar efeitos que levam à deterioração da função cardíaca. Objetivos Esta metanálise tem o objetivo de investigar se a quantidade de TAE em todos os tipos de IC e cada tipo de IC são significativamente diferentes dos pacientes de controle. Métodos Esta metanálise seguiu as diretrizes da Meta-analysis of Observational Studies in Epidemiology (Metanálise de estudos observacionais em epidemiologia). A pesquisa foi realizada nos bancos de dados MEDLINE, Embase e Lilacs até novembro de 2020. Dois autores realizaram a triagem, a extração de dados e a avaliação de qualidade. Um p-valor <0,05 foi definido como estatisticamente significativo. Resultados Foram incluídos oito estudos observacionais, compreendendo 1248 pacientes no total, dos quais 574 eram de controle, 415 tinham IC com fração de ejeção reduzida (ICFER) e 259 tinham IC com fração de ejeção de faixa média ou preservada (ICFEfm ou ICFEP). A quantidade de TAE não era diferente entre todos os tipos de IC e o grupo de controle (DMP = -0,66, IC 95%: -1,54 a 0,23, p =0,14) . Analisando cada fenótipo de IC separadamente, pacientes com ICFER tinham TAE reduzido em comparação aos pacientes de controle (DMP = 1,27, IC 95%: - 1,87 a -0,67, p <0,0001), enquanto os pacientes com ICFEfm ou ICFEP tiveram TAE aumentado em comparação aos pacientes de controle (DMP = 1,24, IC 95%: 0,99 a 1,50, p <0,0001). Conclusão A quantidade de TAE não era significativamente diferente entre todos os tipos de IC e o grupo de controle. Em pacientes com ICFER o volume de TAE era reduzido, enquanto em pacientes com ICFEP e ICFEfm, a quantidade de TAE era significativamente aumentada. Número de registro PROSPERO: CRD42019134441.

Abstract Background Epicardial adipose tissue (EAT) is increased in comorbidities common in heart failure (HF). In this sense, EAT could potentially mediate effects that lead to an impaired cardiac function. Objectives This meta-analysis aims to investigate if the amount of EAT in all-types of HF and each HF phenotype is significantly different from control patients. Methods This meta-analysis followed the Meta-analysis Of Observational Studies in Epidemiology guidelines. The search was performed in the MEDLINE, Embase, and Lilacs databases until November 2020. Two authors performed screening, data extraction, and quality assessment. A p-value <0.05 was defined as statistically significant. Results Eight observational studies were included, comprehending 1,248 patients in total, from which 574 were controls, 415 had HF with reduced ejection fraction (HFrEF) and 259 had HF with mid-range or preserved ejection fraction (HFmrEF or HFpEF). The amount of EAT was not different between all types of HF and the control group (SMD = -0.66, 95% CI: -1.54 to 0.23, p =0.14). Analyzing each HF phenotype separately, patients with HFrEF had a reduced EAT when compared to the controls (SMD= -1.27, 95% CI: - 1.87 to -0.67, p <0.0001), while patients with HFmrEF or HFpEF showed an increased EAT when compared to controls (SMD= 1.24, 95% CI: 0.99 to 1.50, p <0.0001). Conclusion The amount of EAT was not significantly different between all types of HF and the control group. In patients with HFrEF, the EAT volume was reduced, whereas in HFpEF and HFmrEF, the amount of EAT was significantly increased. PROSPERO registration number: CRD42019134441.