ABSTRACT

A maioria das crianças e adolescentes com asma grave apresenta fenótipo de inflamação eosinofílica, com risco de exacerbações, uso de corticosteroides sistêmicos e redução na qualidade de vida. Crianças com inflamação tipo 2 respondem bem aos tratamentos convencionais, no entanto, há um grupo pequeno que falha na resposta terapêutica habitual e necessita medicamentos adicionais, como imunobiológicos, para o controle da doença. O conhecimento da fisiopatologia da inflamação brônquica e a avaliação de seus biomarcadores é fundamental para escolha adequada do imunobiológico. Relatamos o caso de um paciente de 13 anos, com asma grave do tipo 2 alérgico, sem indicação de omalizumabe, e que em uso de mepolizumabe não apresentou controle da doença depois de 12 meses de tratamento. A avaliação do endótipo com citologia de escarro identificou fenótipo inflamatório misto, direcionando a substituição por outro imunobiológico, o tezepelumabe, atingindo o controle das exacerbações, por provável redução da hiper-responsividade brônquica. A avaliação do endótipo da asma com os biomaracadores disponíveis permitiu um tratamento preciso e individualizado para o paciente.

Most children and adolescents with severe asthma have an eosinophilic inflammatory phenotype and are at risk of exacerbations, systemic corticosteroid use, and reduced quality of life. Children with type 2 inflammation respond well to conventional treatment; however, there is a small group that is unresponsive to conventional therapy and requires additional medication for disease control, such as immunobiologic agents. Knowledge of the pathophysiology of bronchial inflammation and biomarker assessment are essential for the appropriate choice of an immunobiologic agent. We report the case of a 13-year-old patient with severe type 2 allergic asthma, with no indication for omalizumab, who did not respond to mepolizumab after 12 months of treatment. The sputum cytology identified a mixed inflammatory endotype that led to replacement with another immunobiologic agent, tezepelumab, achieving control of exacerbations by probable reduction in bronchial hyperresponsiveness. Assessment of asthma endotype with the available biomarkers allowed precise and personalized treatment for this patient.

ABSTRACT

A alergia às proteínas do leite de vaca é a alergia alimentar mais frequente em crianças, mas, na idade adulta, é rara, com uma prevalência estimada de 0,49-0,6%. Estudos prévios demonstraram que a tolerância espontânea na idade adulta raramente ocorre e que, durante o seguimento, a prova de provocação oral duplamente cega controlada com placebo deve ser usada para avaliação de aquisição da tolerância. Os autores apresentam um caso clínico de uma doente adulta com alergia às proteínas do leite de vaca, sensibilizada à caseína.

Cow's milk protein allergy is the most common food allergy in children, but it is rare in adults, with an estimated prevalence of 0.49%-0.60%. Previous studies have shown that spontaneous tolerance rarely occurs in adults and that, during follow-up, the double-blind, placebo-controlled oral food challenge should be used to assess tolerance acquisition. We report the case of an adult patient with cow's milk protein allergy, sensitized to casein.

ABSTRACT

Spastic paraplegia type 4 (SPG4) is the most common type of autosomally inherited spastic paraplegia. Its main clinical features include typical simple hereditary spastic paraplegia, with neurological impairments limited to lower limb spasticity, hypertonic bladder dysfunction, and mild weakening of lower limb vibration sensation, without accompanying features such as nerve atrophy, ataxia, cognitive impairment, seizures, and muscle tone disorders. SPAST is the main pathogenic gene underlying SPG4, and various pathogenic SPAST variants have been discovered. This disease has featured a high degree of clinical heterogeneity, and the same pathogenic variant can have different age of onset and severity among different patients and even within the same family. There is a lack of systematic research on the correlation between the genotype and phenotype of SPG4, and the pathogenic mechanism has remained controversial. This article has provided a review for the clinical characteristics, pathogenic gene characteristics, correlation between the genotype and phenotype, and pathogenic mechanism of this disease, with an aim to provide reference for its clinical diagnosis and treatment.

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a fetus with Cardiac valvular dysplasia type 1 (CVDP1).@*METHODS@#A CVDP1 fetus identified at the Ningbo Women and Children's Hospital on July 7, 2022 was selected as the study subject. Clinical data of the fetus was collected. The fetus and its parents were subjected to trio-whole exome sequencing (trio-WES), and candidate variants were verified by Sanger sequencing.@*RESULTS@#The fetus had exhibited generalized edema, complex cardiac malformation, abdominal effusion, and enhanced intestinal and renal parenchymal echoes. Trio-WES revealed that it has harbored compound heterozygous variants of the PLD1 gene, namely c.2977C>T (p.R993*) and c.1460G>A (p.W487*), which were respectively inherited from its father and mother. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.2977C>T (p.R993*) variant was evaluated to be likely pathogenic (PVS1_Moderate+PM2_Supporting+PM3+PP4), whilst the c.1460G>A (p.W487*) variant was evaluated to be pathogenic (PVS1+PM2_Supporting+PP4).@*CONCLUSION@#The c.2977C>T (p.R993*) and c.1460G>A (p.W487*) compound heterozygous variants of the PLD1 gene probably underlay the CVDP1 in the fetus. Above discovery has enriched the mutational spectrum of the PLD1 gene and provided a guidance for genetic counseling and prenatal diagnosis in this family.

ABSTRACT

Small cell lung cancer (SCLC) is a highly malignant tumor with a very poor prognosis; therefore, more effective treatments are urgently needed for patients afflicted with the disease. In recent years, emerging molecular classifications based on key transcription factors of SCLC have provided more information on the tumor pathophysiology, metastasis, immune microenvironment, and acquired therapeutic resistance and reflected the intertumoral heterogeneity of the various SCLC phenotypes. Additionally, advances in genomics and single-cell sequencing analysis have further revealed the high intratumoral heterogeneity and plasticity of the disease. Herein, we review and summarize these recent lines of evidence and discuss the possible pathogenesis of SCLC.

ABSTRACT

Objective:To analyze the phenotype and genotype characteristics of autosomal recessive hearing loss caused by MYO15A gene variants, and to provide genetic diagnosis and genetic counseling for patients and their families. Methods:Identification of MYO15A gene variants by next generation sequencing in two sporadic cases of hearing loss at Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine. The sequence variants were verified by Sanger sequencing.The pathogenicity of these variants was determined according to the American College of Medical Genetics and Genomics（ACMG） variant classification guidelines, in conjuction with clinical data. Results:The probands of the two families have bilateral,severe or complete hearing loss.Four variants of MYO15A were identified, including one pathogenic variant that has been reported, two likely pathogenic variants,and one splicing variant of uncertain significance. Patient I carries c. 3524dupA（p. Ser1176Valfs*14）, a reported pathogenic variant, and a splicing variant c. 10082+3G>A of uncertain significance according to the ACMG guidelines. Patient I was treated with bilateral hearing aids with satisfactory effect, demonstrated average hearing thresholds of 37.5 dB in the right ear and 33.75 dB in the left ear. Patient Ⅱ carries c. 7441_7442del（p. Leu2481Glufs*86） and c. 10250_10252del（p. Ser3417del）,a pair of as likely pathogenic variants according to the ACMG guidelines. Patient Ⅱ, who underwent right cochlear implantation eight years ago, achieved scores of 9 on the Categorical Auditory Performance-Ⅱ（CAP-Ⅱ） and 5 on the Speech Intelligibility Rating（SIR）. Conclusion:This study's discovery of the rare c. 7441_7442del variant and the splicing variant c. 10082+3G>A in the MYO15A gene is closely associated with autosomal recessive hearing loss, expanding the MYO15A variant spectrum. Additionally, the pathogenicity assessment of the splicing variant facilitates classification of splicing variations.

ABSTRACT

Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.

ABSTRACT

CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.

ABSTRACT

The elucidation of resources pertaining to the Chimonanthus praecox varieties and the establishment of a fingerprint serve as crucial underpinnings for advancing scientific inquiry and industrial progress in relation to C. praecox. Employing the SSR molecular marker technology, an exploration of the genetic diversity of 175 C. praecox varieties (lines) in the Yanling region was conducted, and an analysis of the genetic diversity among these varieties was carried out using the UPDM clustering method in NTSYSpc 2.1 software. We analyzed the genetic structure of 175 germplasm using Structure v2.3.3 software based on a Bayesian model. General linear model (GLM) association was utilized to analyze traits and markers. The genetic diversity analysis revealed a mean number of alleles (Na) of 6.857, a mean expected heterozygosity (He) of 0.496 3, a mean observed heterozygosity (Ho) of 0.503 7, a mean genetic diversity index of Nei՚s of 0.494 9, and a mean Shannon information index of 0.995 8. These results suggest that the C. praecox population in Yanling exhibits a rich genetic diversity. Additionally, the population structure and the UPDM clustering were examined. In the GLM model, a total of fifteen marker loci exhibited significant (P < 0.05) association with eight phenotypic traits, with the explained phenotypic variation ranging from 14.90% to 36.03%. The construction of fingerprints for C. praecox varieties (lines) was accomplished by utilizing eleven primer pairs with the highest polymorphic information content, resulting in the analysis of 175 SSR markers. The present study offers a thorough examination of the genetic diversity and SSR molecular markers of C. praecox in Yanling, and establishes a fundamental germplasm repository of C. praecox, thereby furnishing theoretical underpinnings for the selection and cultivation of novel and superior C. praecox varieties, varietal identification, and resource preservation and exploitation.

ABSTRACT

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.

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 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.

ABSTRACT

Objective: to evaluate the phenotypic characteristics of the mandible in Class III malocclusion in lateral cephalometric radiographs (LCR) and anteroposterior radiographs (APR). Materials and Methods: this is a retrospective observational study with a convenience sample. Individuals with Class III malocclusion were evaluated in 80 LCR (31 females and 49 males) and 70 APR (25 females and 45 males). In the control group, individuals with excellent occlusion were analyzed in 20 LCR and 20 APR (10 of each sex). The linear and angular measurements of the samples were tabled and submitted to the Shapiro-Wilk statistical test. Once their asymmetric distribution was known, the Mann-Whitney U test was selected for comparison between groups and sexes, in addition to Pearson's correlation coefficient test. Results: the length of the mandibular body, height of the ramus, height of the mandibular symphysis and alveolar processes, intercondylar distance, intergonion, and total length of the mandible were structural characteristics involved in the constitution of the skeletal disorder studied. Moreover, the spatial location of the mandible in relation to the maxilla and the base of the skull showed a strong influence on the configuration of this craniofacial disorder, evidenced by the protrusion of the mandible, an evident phenotype of the participation of this bone in Class III skeletal malocclusion. Conclusion: the involvement of structural and spatial characteristics of the mandible in relation to the maxilla and the cranial base in the constitution of Class III skeletal malocclusion was evident.

Objetivo: avaliar as características fenotípicas da mandíbula na má oclusão de Classe III em radiografias cefalométricas laterais (LCR) e radiografias anteroposteriores (APR). Materiais e Métodos: trata-se de um estudo observacional retrospectivo com amostra de conveniência. Indivíduos com má oclusão de Classe III foram avaliados em 80 LCR (31 mulheres e 49 homens) e 70 APR (25 mulheres e 45 homens). No grupo controle, foram analisados ​​indivíduos com excelente oclusão em 20 LCR e 20 APR (10 de cada sexo). As medidas lineares e angulares das amostras foram tabuladas e submetidas ao teste estatístico Shapiro-Wilk. Conhecida sua distribuição assimétrica, foi selecionado o teste U de Mann-Whitney para comparação entre grupos e sexos, além do teste do coeficiente de correlação de Pearson. Resultados: o comprimento do corpo mandibular, altura do ramo, altura da sínfise mandibular e dos processos alveolares, distância intercondilar, intergônio e comprimento total da mandíbula foram características estruturais envolvidas na constituição da desordem esquelética estudada. Além disso, a localização espacial da mandíbula em relação à maxila e à base do crânio apresentou forte influência na configuração desta desordem craniofacial, evidenciada pela protrusão da mandíbula, fenótipo evidente da participação deste osso na Classe III má oclusão esquelética. Conclusão: ficou evidente o envolvimento das características estruturais e espaciais da mandíbula em relação à maxila e à base do crânio na constituição da má oclusão esquelética de Classe III.

ABSTRACT

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.

ABSTRACT

El síndrome de Angelman es un trastorno del neurodesarrollo de origen genético caracterizado por retraso en el desarrollo psicomotriz que se identifica alrededor de los 6 y 12 meses. Es producido por interrupción, inactivación o ausencia del gen UBE3A del cromosoma 15 materno que codifica la proteína ubiquitina ligasa E3A, que interviene en el desarrollo sináptico y la plasticidad neuronal. Se presenta entre 1:12 000 y 1:24 000 recién nacidos y se considera como enfermedad rara. Afecta por igual a ambos sexos y no existe predominio en una etnia en particular. El diagnóstico generalmente es tardío, ya que los recién nacidos tienen un fenotipo normal. Las alteraciones del desarrollo comienzan a notarse desde los 6 meses y no es hasta después del primer año cuando se empiezan a observar las características típicas del síndrome. Las manifestaciones clínicas más destacadas incluyen un retraso mental grave, retraso en la deambulación, ausencia del lenguaje, crisis epilépticas, facies risueña, mentón prominente y occipucio plano. Se manifiesta por retraso en el neurodesarrollo o discapacidad intelectual, comportamiento característico feliz y epilepsia. El diagnóstico se basa en la evaluación clínica y pruebas moleculares para detectar la falta o reducción de expresión del gen dirigido a identificar pequeñas deleciones/duplicaciones o alteraciones de metilación en un gen concreto o región específica. El tratamiento recomendado es interdisciplinario, centrado en el manejo de los síntomas y comorbilidades para mejorar la calidad de vida de los pacientes. El pronóstico puede variar según la gravedad de los síntomas y la respuesta al tratamiento.

Angelman Syndrome is a neurodevelopmental disorder of genetic origin characterized by a delay in psychomotor development that is identified around 6 and 12 months of age. It is produced by interruption, inactivation, or absence of the UBE3A gene on maternal chromosome 15 that encodes the ubiquitin ligase protein E3A, which is involved in synaptic development and neuronal plasticity. It occurs between 1:12,000 and 1:24,000 newborns and is considered a rare disease. It affects both sexes equally, and there is no predominance in any particular race. Diagnosis is generally late since newborns have a normal phenotype. Developmental alterations begin to be noticed from 6 months, and it is not until after the first year that the typical characteristics of the syndrome begin to be observed. The most prominent clinical manifestations include severe mental retardation, delayed ambulation, absence of language, epileptic seizures, smiling facies, prominent chin, and flat occiput. It is manifested by delayed neurodevelopment or intellectual disability, characteristic happy behavior, and epilepsy. The diagnosis is based on clinical evaluation and molecular tests to detect the lack or reduction of gene expression, aimed at identifying small deletions/duplications or methylation alterations in a specific gene or region. The recommended treatment is interdisciplinary and focused on managing symptoms and comorbidities to improve the patient's quality of life. The prognosis may vary depending on the severity of symptoms and response to treatment

ABSTRACT

Los fenotipos de obesidad se presentan en individuos con igual índice de masa corporal que tienen diferentes perfiles metabólicos y pronósticos de salud. Su presencia desde etapas tempranas de la vida hace que incremente la probabilidad de que una mujer arribe al embarazo con estas características, por lo que es necesario promover un posicionamiento conceptual para su identificación. En gestantes normopeso, se sugiere identificar el fenotipo normopeso obeso cuando presenta valor igual o superior al 30 por ciento de la grasa corporal o al 90 percentil de la suma de pliegues cutáneos tricipital y subescapular. De ellas, las que tengan valores iguales o superiores al 75 percentil del índice de adiposidad visceral y del producto de acumulación de los lípidos, se consideran normopeso metabólicamente obesas. En las obesas se propone el uso de los criterios que definen al síndrome metabólico en mujeres, con valores ajustados para gestantes, para identificar la salud metabólica. Los argumentos expuestos demuestran lo idóneo de estratificar el riesgo metabólico al inicio de la gestación al clasificarlas en fenotipos de obesidad, mediante indicadores antropométricos, bioquímicos y clínicos que identifican al síndrome metabólico(AU)

The obesity phenotypes settle down in individuals with equal body mass index that present different metabolic profiles and health prognosis. Its presence from early stages of life increases the probability that women get pregnant with this characteristic, so it is considered necessary to promote a conceptual position for its identification at the beginning of pregnancy. In normal-weight pregnant woman, we propose to use the value of 30 percent or the 90th percentile of the sum of the triceps and subescapularis skinfold to define obese normal-weight phenotype. Of these, those with values equal to or greater than the 75th percentile of visceral adiposity index and the lipids accumulation product would be considered obese metabolically normal-weight. In obese pregnant woman the use of the criteria that define metabolic syndrome in women, is proposed to identify the metabolic health. The exposed theoretical foundations demonstrate the suitability of stratifying metabolic risk at the beginning of pregnancy by classifying it into obesity phenotypes, through anthropometric, biochemical, and clinical indicators(AU)

ABSTRACT

INTRODUCCIÓN: La detección de patrones de resistencia de Mycobacterium tuberculosis se basa en pruebas de susceptibilidad fenotípicas y genotípicas. Los resultados discordantes entre ellas son un desafío clínico para el manejo de pacientes con tuberculosis resistente a fármacos. OBJETIVO: Evaluar la concordancia entre pruebas fenotípicas y moleculares en pacientes con tuberculosis resistente a fármacos atendidos en una institución de Cali, Colombia. MATERIALES Y MÉTODOS: Se realizó un estudio transversal en el que se obtuvo el perfil de sensibilidad fenotípico de cultivos de micobacterias y la susceptibilidad genotípica con las pruebas moleculares Xpert-MTB/ RIF® o Genotype-MDRTBplus ®. Se evaluó el porcentaje de resistencia y porcentaje de acuerdo entre los resultados de las pruebas fenotípicas y genotípicas. Se estimó un coeficiente de kappa de Cohen (κ) para cada tipo de resistencia según la prueba utilizada. RESULTADOS: Se incluyeron 30 casos con resultados de pruebas genotípicas y fenotípicas. Las pruebas fenotípicas detectaron resistencia a fármacos de primera línea en 29/30 casos, mientras que las moleculares detectaron la resistencia en todos los casos evaluados. El porcentaje de resistencia a rifampicina detectado entre la prueba fenotípica y Genotype-MDRTBplus ® &e 61,5% (acuerdo global 41,1%, κ = 0,40, p = 0,96), mientras que el porcentaje de resistencia detectado con Xpert-MTB/RIF® fue 100% (acuerdo global 81,82%, κ: 0,00, p < 0,001) para este mismo medicamento. El porcentaje de resistencia a isoniacida detectado entre la prueba fenotípica y Genotype-MDRTBplus ® fue 94,4% (acuerdo global 89,47%, κ: -0,055 p = 0,59). CONCLUSIONES: La discordancia entre los resultados de las pruebas genotípicas y fenotípicas es posible, por lo que es importante usar e interpretar ambos tipos de pruebas de manera complementaria en el diagnóstico de la resistencia a fármacos de primera línea en la infección por M. tuberculosis.

BACKGROUND: The detection of Mycobacterium tuberculosis resistance patterns is based on phenotypic and genotypic susceptibility tests. The discordant results between them are a clinical challenge for the management of patients with drug-resistant tuberculosis. Aim: To evaluate the concordance between phenotypic and molecular tests in patients with drug-resistant tuberculosis treated in an institution in Cali, Colombia. METHODS: A cross-sectional study was conducted. A phenotypic sensitivity profile was obtained from mycobacterial cultures. The genotypic susceptibility was obtained with Xpert-MTB/ RIF® or Genotype-MDRTBplus ®. The percentage of resistance and percentage of agreement between the results of the phenotypic and genotypic tests were evaluated. A Cohen's kappa coefficient (κ) was estimated for each type of resistance according to the test used. RESULTS: A total of 30 cases with both genotypic and phenotypic testing were included. The phenotypic tests detected resistance to first-line drugs in 29/30 cases, while the molecular tests detected resistance in all the cases evaluated. The percentage of resistance detected between Genotype-MDRTBplus® and the phenotypic test for rifampicin was 61.5% (overall agreement 41.1%, κ = 0.40, p = 0.96), while the percentage of resistance detected with XpertMTB/RIF® was 100% (overall agreement 81.82%, κ: 0.00, p < 0.001) for this same drug. Resistance to isoniazid detected by both types of tests was 94.4% (overall agreement 89.47%, κ: -0.055 p = 0.59). CONCLUSIONS: Discordance between the results of genotypic and phenotypic tests is possible, so it is important to use and interpret both types of tests in a complementary way in the diagnosis of resistance to first-line drugs in M. tuberculosis infection.

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La miocardiopatía hipertrófica (MCH) es la miocardiopatía hereditaria más frecuente, su principal expresión fenotípica consiste en hipertrofia ventricular izquierda (HVI) en ausencia de condiciones de carga que la justifiquen. Cuando existe una variante genética patogénica se denomina MCH sarcomérica. Los criterios diagnósticos más aceptados son HVI ≥ 15 mm en cualquier segmento o ≥ 13 en ciertas condiciones, criterios que tienen tres inconvenientes: 1) La HCM es una patología donde la HVI es evolutiva, existiendo otros elementos más precoces, pero menos precisos, como criptas, bandas musculares y alteraciones de la válvula mitral y músculos papilares; 2) Pacientes de baja estatura pueden no alcanzar estos umbrales; 3) La MCH apical no queda siempre bien representada usando estos grosores, requiriendo indexar por tamaño del paciente y/o considerar la HVI relativa (relación grosor apical / basal que no debe superar 1). Presentamos una serie de casos con genotipo confirmado para MCH que no cumplen los criterios de HVI aceptados para MCH y donde se debe individualizar el diagnóstico considerando los tres elementos señalados.

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac condition; its phenotypic expression consists of ventricular hypertrophy (LVH) unrelated to loading conditions. In patients with a genetic pathogenic variant, the condition is termed sarcomeric HCM. Current diagnostic criteria are based on absolute left ventricular thickness, requiring ≥15 mm in any segment or ≥13 mm in particular conditions. These criteria have three pitfalls: 1) HCM is an evolving disease where LVH occurs gradually, with other early -but less precisephenotypic expressions such as myocardial crypts, muscular bands, or mitral and papillary muscle alterations; 2) Patients with short stature tend to have less LVH and do not reach the proposed thickness threshold. 3) Apical HCM is not correctly addressed in this cut-off as the heart tapers from base to apex, warranting indexing wall thickness to body size and using relative LVH in the apex (ratio from apex/base, abnormal,>1). This small case series includes three patients with a pathogenic genetic variant for HCM that doesn't satisfy the current criteria of LVH. For its precise assessment, the aforementioned points must be considered.

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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.