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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotypic and genotypic characterization of Colombian clinical isolates of Sporothrix spp

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

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

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

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

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

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

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

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

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

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

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

Variaciones fenotípicas relacionadas a respuestas hipóxicas entre andinos a distintas altitudes / Phenotypic variations related to hypoxic responses among Andeans at different altitudes

Introducción. La adaptación a grandes altitudes implica cambios evolutivos que conllevan respuestas adaptativas, como a la hipoxia. Los andinos desarrollaron fenotipos eritroides diferentes en relación con otras poblaciones a gran altitud que pueden variar dependiendo la altitud. Objetivo. Determinar las variaciones fenotípicas de hemoglobina (Hb), saturación de oxígeno (SpO2), P50 y lactato en andinos bolivianos con radicatorias entre 400, 4000 y 5000 msnm. Material y métodos. Estudio descriptivo transversal de tipo prospectivo. Se recolectó sangre venosa periférica de andinos bolivianos (n=124) nacidos a 4000 m, pero con radicatoria en altitudes diferentes (400 m, 4000 m, 5000 m), así como de aquellos con eritrocitosis patológicas. Adicionalmente, se recolectó muestras de europeos residentes a 4000 m (n=11). Se realizó estudios de hemograma, oximetría y gasometría. La P50 fue calculada con fórmula de Lichtman. Resultados. Los andinos sanos, comparados entre distintas altitudes, reflejaron aumento de Hb al ser mayor la altitud (p: 0,001), empero disminución de SpO2 (p: 0,001) y P50 (p: 0,001); sin variaciones en lactato. Los europeos a 4000 m, en relación con andinos a la misma altitud, presentaron Hb incrementada (p: 0,01), SpO2 y P50 sin variaciones, pero lactato significativamente aumentado (p: 0,001). Los pacientes con eritrocitosis comparados con sujetos sanos, a 4000 m y 5000 m respectivamente, presentaron Hb aumentada (p: 0,001); SpO2 disminuida (p: 0,001); P50 sin variaciones, pero lactato incrementado (p: 0,01). El lactato elevado en sujetos a 5000 m con eritrocitosis fue llamativo (1,7 mmol/L). Conclusiones. Las variaciones fenotípicas observadas entre andinos en diferentes altitudes constituyen una expresión de una adaptación parcial a la altura.

Introduction. Human adaptation to high altitude involves evolutionary changes leading adaptive responses, such as to hypoxia. Andeans developed different erythroid phenotypes in relation to other populations at high altitude, which can vary depending on the altitude. Objective. To determine the phenotypic variations of hemoglobin (Hb), oxygen saturation (SpO2), P50 and lactate in Bolivian Andeans residing between 400, 4000 or 5000 masl. Material and methods. Prospective cross-sectional descriptive study. Peripheral venous blood from Bolivian Andeans (n=124) born at 4000 m, but residing at different altitudes (400 m, 4000 m, 5000 m), likewise from those with pathological erythrocytosis were collected. Additionally, samples from Europeans residing at 4000 m (n=11) were collected. CBC, oximetry and blood gas studies were performed. P50 was calculated using the Lichtman formula. Results. Healthy Andeans, compared between different altitudes, reflected an increased Hb (p: 0.001), but a decreased SpO2 (p: 0.001) and P50 (p: 0.001) as the altitude was higher; without variations in lactate. Europeans at 4000 m, related to Andeans at the same altitude, presented increased Hb (p: 0.01), SpO2 and P50 without variations, but significantly increased lactate (p: 0.001). Patients with erythrocytosis compared to healthy subjects, at 4000 m and 5000 m respectively, depicted increased Hb (p: 0.001); decreased SpO2 (p: 0.001); P50 without changes, but increased lactate (p: 0.01). Increased lactate in subjects with erythrocytosis at 5000 m was remarkable (1.7 mmol/L). Conclusion. The phenotypic variations observed among Andeans residing at different altitudes constitute an expression of partial adaptation to altitude.

Periostin as an important biomarker of inflammatory phenotype T2 in Brazilian asthma patients / Periostina como um importante biomarcador do fenótipo inflamatório T2 em pacientes brasileiros com asma

ABSTRACT Objective: The aim of this study was to assess the laboratory performance of periostin associated with a panel of biomarkers to identify the inflammatory phenotype of Brazilian asthma patients. Methods: We evaluated 103 Brazilian individuals, including 37 asthmatics and 66 nonasthmatic controls. Both groups underwent analyses for serum periostin, eosinophil levels in the peripheral blood, the fraction of exhaled nitric oxide (FeNO), total serum IgE, urinary leukotriene E4, and serum cytokines. Results: Higher levels of periostin (p = 0.005), blood eosinophils (p = 0.012), FeNO (p = 0.001), total IgE (p < 0.001), and IL-6 (p ≤ 0.001) were found in the asthmatic patients than the controls. Biomarker analyses by the ROC curve showed an AUC greater than 65%. Periostin (OR: 12,550; 95% CI: 2,498-63,063) and IL-6 (OR: 7,249; 95% CI: 1,737-30,262) revealed to be suitable asthma inflammation biomarkers. Blood eosinophils, FeNO, total IgE, IL-6, TNF, and IFN-g showed correlations with clinical severity characteristics in asthmatic patients. Periostin showed higher values in T2 asthma (p = 0.006) and TNF in non-T2 asthma (p = 0.029). Conclusion: The panel of biomarkers proposed for the identification of the inflammatory phenotype of asthmatic patients demonstrated good performance. Periostin proved to be an important biomarker for the identification of T2 asthma.

RESUMO Objetivo: O objetivo deste estudo foi de avaliar o desempenho laboratorial da periostina associada a um painel de biomarcadores para identificar o fenótipo inflamatório de pacientes brasileiros com asma. Métodos: Foram avaliados 103 indivíduos brasileiros, incluindo 37 asmáticos e 66 controles não asmáticos. Ambos os grupos foram submetidos a análises de periostina sérica, níveis de eosinófilos no sangue periférico, a fração exalada de óxido nítrico (FeNO), IgE sérica total, leucotrieno E4 urinário e citocinas séricas. Resultados: Maiores níveis de periostina (p = 0,005), eosinófilos periféricos (p = 0,012), FeNO (p = 0,001), IgE total (p < 0,001) e IL-6 (p ≤ 0,001) foram encontrados nos pacientes asmáticos do que nos controles. As análises de biomarcadores pela curva ROC mostraram uma AUC superior a 65%. A periostina (OR: 12.550; IC 95%: 2.498-63.063) e a IL-6 (OR: 7.249; IC 95%: 1.737-30.262) se mostraram biomarcadores adequados da inflamação da asma. Eosinófilos periféricos, FeNO, IgE total, IL-6, TNF e IFN-g apresentaram correlação com características clínicas de gravidade em pacientes asmáticos. A periostina teve valores mais elevados na asma T2 (p = 0,006) e o TNF na asma não T2 (p = 0,029). Conclusão: O painel de biomarcadores proposto para a identificação do fenótipo inflamatório de pacientes asmáticos demonstrou bom desempenho. A periostina provou ser um importante biomarcador para a identificação da asma T2.

Fenótipos MINOCA - Um Desafio para o Manejo Específico do Paciente / MINOCA Phenotypes - A Challenge for Patient-Specific Management

Resumo O infarto do miocárdio com artérias coronárias não obstrutivas (MINOCA) é um fenômeno clínico intrigante e de prognóstico incerto, caracterizado pela evidência de infarto do miocárdio (IM) com artérias coronárias normais ou quase normais na angiografia1. Atualmente, não há diretrizes para o manejo e muitos pacientes recebem alta sem uma etiologia determinada, significando muitas vezes que o tratamento ideal é adiado.Relatamos três estudos de caso MINOCA com as principais causas fisiopatológicas cardíacas, particularmente epicárdicas, microvasculares e não isquêmicas, levando ao tratamento diferencial. Os pacientes apresentavam dor torácica aguda, aumento da troponina e nenhuma doença coronariana angiograficamente significativa.Neste estudo, analisamos a etiologia, diagnóstico clínico e tratamento da MINOCA em relação à literatura relevante.MINOCA é considerado um diagnóstico de trabalho dinâmico, incluindo distúrbios coronários, miocárdicos e não coronários. Estudos prospectivos e registros são necessários para melhorar o atendimento e o resultado do paciente.

Abstract Myocardial infarction with non-obstructive coronary arteries (MINOCA) is a puzzling clinical phenomenon with an unclear prognosis, characterized by evidence of myocardial infarction (MI) with normal or near-normal coronary arteries on angiography1. Currently, there are no guidelines for management, and many patients are discharged without a determined etiology, often meaning that optimal treatment gets postponed.We report three MINOCA case studies with main pathophysiological cardiac causes, particularly epicardial, microvascular, and non-ischemic, prompting differential management. The patients presented with acute chest pain, troponin raise, and no angiographically significant coronary disease.In this study, we analyzed the etiology, clinical diagnosis, and treatment of MINOCA concerning the relevant literature.MINOCA is considered to be a dynamic working diagnosis, including coronary, myocardial, and non-coronary disorders. Prospective studies and registries are needed to improve patient care and outcome.

Association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis / Associação entre as características fenotípicas, genotípicas e a gravidade da doença em indivíduos com fibrose cística

Abstract Objective: To analyze the association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis treated at a reference center in Minas Gerais, Brazil. Methods: This is a retrospective study that collected clinical and laboratory data, respiratory and gastrointestinal manifestations, type of treatment, Shwachman-Kulczycki score, and mutations from the patients' medical records. Results: The sample included 50 participants aged one to 33 years, 50% of whom were female. Out of the one hundred alleles of the Cystic Fibrosis Transmembrane Conductance Regulator gene, the most prevalent mutations were DeltaF508 (45%) and S4X (18%). Mutation groups were only associated with pancreatic insufficiency (p=0.013) and not with disease severity (p=0.073). The latter presented an association with colonization by Pseudomonas aeruginosa and Staphylococcus aureus (p=0.007) and with underweight (p=0.036). Death was associated with age at diagnosis (p=0.016), respiratory symptomatology (p=0.013), colonization (p=0.024), underweight (p=0.017), and hospitalization (p=0.003). Conclusions: We could identify the association of mutations with pancreatic insufficiency; the association of Staphylococcus aureus colonization and underweight with disease severity; and the lack of association between mutations and disease severity. Environmental factors should be investigated more thoroughly since they seem to have an important effect on disease severity.

RESUMO Objetivo: Analisar a associação entre as características fenotípicas, genotípicas e a gravidade da doença em indivíduos com fibrose cística atendidos em um centro de referência de Minas Gerais, Brasil. Métodos: Trata-se de um estudo retrospectivo, em que os dados clínicos, laboratoriais, as manifestações respiratórias e gastrointestinais, o tipo de tratamento, o escore de Shwachman-Kulczycki e as mutações foram coletados dos prontuários de registros dos pacientes. Resultados: A amostra incluiu 50 participantes, de um a 33 anos de idade, sendo 50% do sexo feminino. Do total de cem alelos do gene Cystic Fibrosis Transmembrane Conductance Regulator, as mutações mais prevalentes foram Delta F508 (45%) e S4X (18%). Os grupos de mutações apresentaram associação somente (p=0,013) com a insuficiência pancreática e não com a gravidade da doença (p=0,073). Esta última apresentou associação com a colonização por Pseudomonas aeruginosa e Staphylococcus aureus (p=0,007) e com baixo peso (p=0,036). O óbito foi associado com a idade no diagnóstico (p=0,016), a sintomatologia respiratória (p=0,013), a colonização (p=0,024), o baixo peso (p=0,017) e a ocorrência de internação (p=0,003). Conclusões: Foi possível observar associação entre as mutações e a presença de insuficiência pancreática; entre a colonização por Staphylococcus aureus e o baixo peso com a gravidade da doença; e ausência de associação entre as mutações e a gravidade da doença. Os fatores ambientais merecem ser investigados mais detalhadamente, pois parecem apresentar impacto importante na gravidade da doença.

Estudio clínico y molecular en pacientes cubanos con neurofibromatosis tipo i

Introducción: La neurofibromatosis tipo i es una enfermedad hereditaria, autosómica dominante, multisistémica, progresiva con penetrancia completa y expresividad variable. El análisis de las familias con marcadores moleculares permite realizar el diagnóstico por métodos indirectos. Objetivos: Estudiar dos familias cubanas con al menos un caso de neurofibromatosis tipo i e identificar los alelos resultantes del polimorfismo para el diagnóstico molecular. Métodos: Se realizó un estudio descriptivo a dos familias con al menos un caso de neurofibromatosis tipo i. Se extrajo el ADN con la técnica de precipitación salina y fue utilizada la reacción en cadena de la polimerasa para la amplificación del fragmento de interés. Se realizó la digestión enzimática con la enzima Rsai para analizar los alelos del polimorfismo estudiado y posteriormente hacer la electroforesis en gel de agarosa al 2 %. Resultados: Las manifestaciones clínicas más frecuentes fueron las manchas color café con leche, pecas axilares e inguinales y lesiones óseas. Se detectaron los alelos 1 y 2 al analizar el polimorfismo en las muestras. Las frecuencias alélicas fueron 38,5 % y 61,5 % respectivamente. Conclusiones: Fueron identificadas las principales manifestaciones clínicas en los pacientes. La técnica para el análisis del polimorfimo permitió el estudio molecular en las familias con neurofibromatosis tipo i. Se detectaron los alelos del marcador molecular y sus frecuencias. Se realizó el diagnóstico molecular de los individuos sospechosos.

Introduction: Neurofibromatosis type i is a hereditary, autosomal dominant, multisystemic, progressive disease with complete penetrance and variable manifestation. The analysis of families with molecular markers allows diagnosis by indirect methods. Objectives: To study two Cuban families with at least one case of neurofibromatosis type i and to identify the alleles resulting from the polymorphism for molecular diagnosis. Methods: A descriptive study of two families with at least one case of neurofibromatosis type i was performed. DNA was extracted with the saline precipitation technique and polymerase chain reaction was used for amplification of the fragment of interest. Enzymatic digestion was performed with the RsaI enzyme to analyze the alleles of the polymorphism studied and then to perform electrophoresis in 2% agarose gel. Results: The most frequent clinical manifestations were café-au-lait spots, axillary and inguinal freckles and bone lesions. Alleles 1 and 2 were detected when analyzing the polymorphism in the samples. The allele frequencies were 38.5 % and 61.5 % respectively. Conclusions: The main clinical manifestations in patients were identified. The technique for polymorphism analysis allowed the molecular study in the families with neurofibromatosis type i. The alleles of the molecular marker and their frequencies were detected. Molecular diagnosis of suspected individuals was performed.

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.

Atualização em reações de hipersensibilidade aos anti-inflamatórios não esteroidais ­ Parte 2: manifestações clínicas, fenótipos, diagnóstico e manejo / Update on hypersensitivity reactions to nonsteroidal anti-inflammatory drugs ­ Part 2: clinical features, phenotypes, diagnosis, and management

Os anti-inflamatórios não esteroidais (AINE) são os fármacos mais frequentemente associados a reações de hipersensibilidade (RH) na prática clínica. Na parte 2 dessa atualização sobre as RH aos AINE, discutiremos os aspectos clínicos dessas reações, com foco nos sinais e sintomas, como diferenciar os fenótipos clínicos, fazer a orientação desses pacientes e quando indicar procedimentos complementares, como testes cutâneos, de provocação e dessensibilização.

Nonsteroidal anti-inflammatory drugs are a major cause of drug hypersensitivity reactions in clinical practice. In this "Update Part 2", we discuss the clinical picture, including the main signs and symptoms, how to distinguish clinical phenotypes, how to manage affected patients, and when to indicate additional procedures, such as skin testing, challenge, and desensitization.

Derivation and validation of new prehospital phenotypes for adults with COVID-19. / Derivación y validación de nuevos fenotipos prehospitalarios en pacientes adultos con enfermedad por COVID-19.

OBJECTIVES: To characterize phenotypes of prehospital patients with COVID-19 to facilitate early identification of at-risk groups. MATERIAL AND METHODS: Multicenter observational noninterventional study of a retrospective cohort of 3789 patients, analyzing 52 prehospital variables. The main outcomes were 4 clusters of prehospital variables describing the phenotypes. Secondary outcomes were hospitalization, mechanical ventilation, admission to an intensive care unit, and cumulative mortality inside or outside the hospital on days 1, 2, 3, 7, 14, 21, and 28 after hospitalization and after start of prehospital care. RESULTS: We used a principal components multiple correspondence analysis (factor analysis) followed by decomposition into 4 clusters as follows: cluster 1, 1090 patients (28.7%); cluster 2, 1420 (37.4%); cluster 3, 250 (6.6%), and cluster 4, 1029 (27.1%). Cluster 4 was comprised of the oldest patients and had the highest frequencies of residence in group facilities and low arterial oxygen saturation. This group also had the highest mortality (44.8% at 28 days). Cluster 1 was comprised of the youngest patients and had the highest frequencies of smoking, fever, and requirement for mechanical ventilation. This group had the most favorable prognosis and the lowest mortality. CONCLUSION: Patients with COVID-19 evaluated by emergency medical responders and transferred to hospital emergency departments can be classified into 4 phenotypes with different clinical, therapeutic, and prognostic characteristics. The phenotypes can help health care professionals to quickly assess a patient's future risk, thus informing clinical decisions.

OBJETIVO: Desarrollar un fenotipado prehospitalario de pacientes con COVID-19 que permita una identificación temprana de los grupos de riesgo. METODO: Estudio observacional de cohorte retrospectivo multicéntrico, sin intervención con 3.789 pacientes y 52 variables prehospitalarias. Las variables de resultado principal fueron las cuatro agrupaciones prehospitalarios obtenidos, #1, #2, #3 y #4. Los resultados secundarios fueron: ingreso hospitalario, ventilación mecánica, ingreso en unidad de cuidados intensivos y mortalidad acumulada a los 1, 2, 3, 7, 14, 21 y 28 días desde el ingreso hospitalario (hospitalaria y extrahospitalaria). RESULTADOS: Por medio de una descomposición en componentes principales/correspondencia múltiple de datos mixtos (continuos y categóricos), seguido de una descomposición en agrupaciones, se obtuvo cuatro agrupaciones/fenotipos #1, #2, #3 y #4 de 1.090 (28,7%), 1.420 (37,4%), 250 (6,6%) y 1.029 (27,1%) pacientes, respectivamente. El grupo #4, compuesto por los pacientes de mayor edad, baja saturación de oxígeno e institucionalización es el que presenta la mayor mortalidad (44,8% de mortalidad a 28 días). El grupo #1, compuesto de pacientes de menor edad, con mayor porcentaje de tabaquismo, fiebre y necesidades de ventilación mecánica, es el de pronóstico más favorable con la menor tasa de mortalidad. CONCLUSIONES: Los pacientes con COVID-19 valorados por los servicios médicos de emergencias y transferidos al servicio de urgencias hospitalario se pueden clasificar en 4 fenotipos con diferentes consideraciones clínicas, terapéuticas y de pronóstico, y permite a los profesionales sanitarios discriminar rápidamente el nivel de riesgo futuro del paciente y ayuda por lo tanto en el proceso de toma de decisiones.

Síndrome de Cohen: reporte de caso y revisión de la literatura / Cohen syndrome: case report and literature review

Resumen Introducción: el Síndrome de Cohen es una enfermedad genética monogénica autosómica recesiva, que se origina a partir de mutaciones en el gen VPS13B (COH1). Se caracteriza por obesidad, retraso psicomotor, microcefalia, hipotonía, miopía progresiva, distrofia retiniana, neutropenia intermitente y rasgos faciales particulares. Objetivo: presentar el segundo caso reportado en Colombia, que fue confirmado mediante estudio molecular. También se presenta una breve revisión de la literatura médica más reciente sobre esta patología. Caso clínico: adolescente de 14 años con microcefalia, trastorno cognitivo, malformaciones menores asociadas, neutropenia y obesidad, con mutación homocigota del gen VPS13B. Conclusión: a pesar de ser un síndrome poco común, con importante variabilidad fenotípica, debe sospecharse con base en los criterios clínicos y en las patologías asociadas.

Abstract Introduction: cohen's syndrome is an autosomal recessive monogenic genetic disease, which originates from mutations in the VPS13B (COH1) gene. It is characterized by obesity, psychomotor retardation, microcephaly, hypotonia, progressive myopia, retinal dystrophy, intermittent neutropenia, and classic facial features. Objective: to present the second case reported in Colombia, which was confirmed by molecular study. A brief review of the most recent medical literature on this pathology is also presented. Clinical case: a 14-year-old adolescent with microcephaly, cognitive disorder, minor associated malformations, neutropenia, and obesity, with a homozygous VPS13B gene mutation. Conclusion: despite being a rare syndrome, with significant phenotypic variability, it should be suspected based on clinical criteria and associated pathologies.