Espondiloencondrodisplasia con desregulación inmune relacionada a ACP5. Reporte de cuatro casos / Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases

La espondiloencondrodisplasia con desregulación inmune relacionada a ACP5 (SPENCDI #607944, por la sigla de spondyloenchondrodysplasia with immune dysregulation y el número que le corresponde en OMIM, Online Mendelian Inheritance in Man) es una displasia inmuno-ósea poco frecuente con manifestaciones heterogéneas y gravedad variable. Presenta lesiones espondilometafisarias, disfunción inmune y compromiso neurológico. Se reportan aspectos clínicos, radiológicos y genéticos de cuatro niñas con SPENCDI en un hospital pediátrico. Todas presentaron manifestaciones esqueléticas y tres de ellas enfermedad inmunológica grave. Se encontró en tres pacientes la variante probablemente patogénica c.791T>A; p.Met264Lys en homocigosis, y en una paciente las variantes c.791T>A; p.Met264Lys y c.632T>C; p.lle211Thr (variante de significado incierto con predicción patogénica según algoritmos bioinformáticos) en heterocigosis compuesta en ACP5. La presencia de la variante repetida c.791T>A sugiere la posibilidad de un ancestro en común en nuestra población. El reconocimiento y diagnóstico de esta entidad es importante para lograr un oportuno abordaje, que deberá ser multidisciplinario, orientado hacia la prevención de posibles complicaciones.

Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.

Tear film osmolarity variation between weeks in healthy and dry eye disease subjects / Variação semanal da osmolaridade do filme lacrimal em indivíduos saudáveis e com síndrome do olho seco

ABSTRACT Purpose: The possible variability in diagnostic test results is a statistical feature of dry eye disease patients. The clinician should consider tear film variations over time since the timing of tear film measurements is important for proper diagnosis. The purpose of the present study was to analyze the inter-week variation of osmolarity measurement in healthy and dry eye disease participants. Methods: Based on the Dry Eye Workshop II (DEWS-II) diagnostic methodology report criteria, a battery of tests (Ocular Surface Disease Index [OSDI] questionnaire, breakup time, and corneal staining) was administered to rule out the presence of dry eye disease. A total of 40 qualified volunteers were recruited into two groups: with only 20 healthy and 20 dry eye disease participants. The inter-week variation of osmolarity in the two groups was measured using a TearLab osmometer in two sessions one-week apart. The differences between the results were calculated. Results: There were no significant differences in osmolarity between the two sessions for either the healthy (paired t-test; p=0.085) or dry eye disease (paired t-test; p=0.093) participants. Moreover, there was no significant correlation between the means and differences in either session on healthy (Pearson correlation: r=0.020; p=0.935) or dry eye disease (Pearson correlation: r=-0.022; p=0.928) participants. In session 1, there was a significant difference in osmolarity values between groups (unpaired t-test; p=0.001), but no difference was found in session 2 (unpaired t-test; p=0.292). Conclusions: The present study discovered no inter-week variation in the tear film osmolarity of healthy and dry eye disease participants classified based on the DEWS-II criteria.

RESUMO Objetivo: A possível variabilidade nos resultados de testes diagnósticos é uma característica estatística dos pacientes com síndrome do olho seco. O médico deve considerar as variações do filme lacrimal ao longo do tempo, pois o momento em que o filme lacrimal é medido pode ser crítico para o diagnóstico adequado. O objetivo deste estudo foi analisar a variação semanal da osmolaridade do filme lacrimal em participantes saudáveis e em outros com síndrome do olho seco. Métodos: Com base nos critérios da metodologia de diagnóstico do relatório da Dry Eye Workshop II (DEWSII), foi aplicada uma bateria de testes (questionário do índice de doença da superfície ocular [OSDI], tempo de ruptura do filme lacrimal e coloração da córnea) para descartar a presença de síndrome do olho seco. Um total de 40 voluntários qualificados foi recrutado e distribuído em dois grupos de 20 participantes saudáveis e 20 participantes com síndrome do olho seco. A variação da osmolaridade entre semanas foi medida com um osmômetro TearLab em duas sessões com uma semana de intervalo nos dois grupos. As diferenças entre os resultados foram então calculadas. Resultados: Não foram encontradas diferenças significativas na osmolaridade entre as medidas obtidas nas duas sessões, nem no grupo de participantes saudáveis (teste de t pareado; p=0,085), nem no de participantes com síndrome do olho seco (teste de t pareado; p=0,093). Não foi detectada nenhuma correlação significativa entre as médias e diferenças entre as duas sessões entre participantes saudáveis (correlação de Pearson: r=0,020, p=0,935) e aqueles com síndrome do olho seco (correlação Pearson: r=-0,022, p=0,928). Foi encontrada uma diferença significativa nos valores de osmolaridade entre os dois grupos na primeira sessão (teste de t não pareado; p=0,001), mas nenhuma diferença foi encontrada na segunda sessão (teste de t não pareado; p=0,292). Conclusões: O presente estudo não encontrou variação entre semanas consecutivas na osmolaridade do filme lacrimal em participantes saudáveis e com síndrome do olho seco, classificados com base nos critérios do DEWSII.

Relación entre la Temperatura de Superficie, la Composición Corporal e Indicadores Antropométricos de Obesidad y Sobrepeso / Relationship Between Surface Temperature, Body Composition and Anthropometric Indicators of Obesity and Overweight

La termografía por infrarrojo (TI) permite evaluar la temperatura corporal, medir los cambios en la disipación del calor corporal en superficie y relacionarlos con las características de composición corporal e índices antropométricos. Aumentar el número de registros de zonas corporales evaluadas con TI y establecer las relaciones de estas temperaturas (32 áreas corporales) con variables de composición corporal e índices antropométricos, como el índice de masa corporal (IMC), índice cintura cadera, índice cintura estatura, en hombres adultos divididos según su estado ponderal. Participaron 60 hombres, adultos sanos, divididos en 2 grupos: grupo 1 (n=30), con IMC ≤ 24,9, edad 23,2 ± 3,9 años, masa corporal 66,5 ± 6,5 kg, y talla 170,5 ± 7,4 cm; y, grupo 2 (n= 30), con IMC > 24,9, edad 29,4 ± 9,9 años, masa corporal 84,5 ± 11,9 kg, y talla 172,0 ± 7,18 cm. Se realizaron evaluaciones antropométricas y de TI. Sujetos con IMC ≤ 24,9 kg/ m2 presentaron valores mayores de temperatura superficial, en todas las zonas estudiadas, a diferencia de los sujetos con niveles de IMC > 24,9 kg/m2, donde la disipación del calor corporal fue menor. Existe una estrecha relación entre la temperatura superficial de la piel y el IMC, donde sujetos con un IMC normal mostraron una disipación de calor y valores de temperatura superficial mayores, en todas las zonas evaluadas, a diferencia de los sujetos con un IMC que se encontraba por encima del límite de normalidad.

SUMMARY: Infrared thermography (IT) makes it possible to assess body temperature, measure changes in body heat dissipation on the surface, and relate them to body composition characteristics and anthropometric indices. The objective of this study was to increase the number of records of body areas evaluated with IT and establish the relationships of these temperatures (32 body areas) with body composition variables and anthropometric indices, such as body mass index (BMI), waist-hip ratio, waist-height ratio, in adult men divided according to their weight status. A total of 60 healthy adult men participated, divided into 2 groups: group 1 (n=30), with a body mass index (BMI) ≤ 24.9, age 23.2 ± 3.9 years, body mass 66.5 ± 6.5 kg, and height 170.5 ± 7.4 cm; and, group 2 (n = 30), with BMI > 24.9, age 29.4 ± 9.9 years, body mass 84.5 ± 11.9 kg, and height 172.0 ± 7.18 cm. Anthropometric and IT assessments were performed. Subjects with BMI ≤ 24.9 kg/ m2 presented higher values of surface temperature in all areas studied, unlike subjects with BMI levels > 24.9 kg/m2, where body heat dissipation was lower. There is a close relationship between skin surface temperature and BMI, where subjects with a normal BMI showed higher heat dissipation and surface temperature values, in all evaluated areas, unlike subjects with a BMI that was above the normal limit.

Análisis molecular y filogenético del genotipo F de Chlamydia trachomatis aislados en México en 2011 / Molecular and phylogenetic analysis of the F genotype of Chlamydia trachomatis isolated in Mexico in 2011

Resumen Antecedentes: Chlamydia trachomatis es la bacteria que se detecta con mayor frecuencia en las infecciones de transmisión sexual. Se han identificado 20 genotipos de C. trachomatis mediante el gen ompA y varias genovariantes mediante el análisis de polimorfismo de un solo nucleótido (SNP). En México, el genotipo F es el más frecuente. Objetivo: Identificar la existencia de subtipos del genotipo F. Método: Se analizaron siete cepas del genotipo F de C. trachomatis aisladas en 2011, mediante secuenciación de nucleótidos y mapeo con enzimas de restricción. Resultados: El análisis de SNP mostró dos cepas con el mismo SNP en el nucleótido 288 (C288T), mientras que con enzimas de restricción se identificó una variante con diferente RFLP (polimorfismo de la longitud de fragmentos de restricción) cuando se tratan con la mezcla de enzimas HinfI y TaqI. Conclusión: En México se encuentran dos subtipos del genotipo F y solo las enzimas de restricción HinfI y TaqI pueden identificar la existencia de uno de estos genotipos F.

Abstract Background: Chlamydia trachomatis is the most frequently identified bacterium in sexually transmitted infections. Twenty C. trachomatis genotypes have been determined using the ompA gene and several genovariants by single nucleotide polymorphism (SNP) analysis. In Mexico, the F genotype is the most frequent. Objective: To identify subtypes of the F genotype. Method: Seven C. trachomatis genotype F strains isolated in 2011 were analyzed by nucleotide sequencing and restriction enzyme mapping. Results: SNP analysis showed two strains with the same SNP at nucleotide 288 (C288T), while with res-triction enzymes, a variant with different RFLP (restriction fragment length polymorphism) was identified when treated with the mixture of HinfI and TaqI enzymes. Conclusion: In Mexico, there are two subtypes of F, and only with restriction enzymes HinfI and TaqI can identify one of the genovariants of the F genotype.

Evaluación de ingesta dietética en un grupo de mujeres lactantes en dos poblaciones de Antioquia, Colombia, 2021-2022 / Dietary intake assessment in a group of breastfeeding women in two populations of Antioquia, Colombia, 2021-2022

Objetivos: Describir la prevalencia del riesgo de deficiencia o exceso en la ingesta de nutrientes y el patrón de consumo de alimentos de acuerdo con las recomendaciones establecidas por el Ministerio de Salud y Protección Social y el Instituto Colombiano de Bienestar Familiar. Materiales y métodos: Se realizó un estudio transversal descriptivo en mujeres sanas que fueron atendidas en dos hospitales del oriente antioqueño, con seguridad alimentaria y nutricional (SAN) según la Escala Latinoamericana y Caribeña de Seguridad Alimentaria (ELCSA), en el primer trimestre de lactancia, evaluadas entre los años 2021 y 2022. La fuente de información fue la historia clínica. Se midieron las características sociodemográficas, clínicas, antropométricas y la ingesta dietética y de micronutrientes. Se empleó estadística descriptiva. Se presenta la prevalencia de déficit o exceso de ingesta calórica y el índice de relación de consumo (IRC). Se utilizaron los software EVINDI v5, PC-SIDE v1.0, Stata 16.1 y Jasp 0.16.4. Resultados: Se incluyeron 30 mujeres lactantes. La prevalencia de riesgo de deficiencia en la ingesta usual de energía fue 43 % y exceso 16 %; el riesgo de deficiencia proteica fue 98 %. El consumo superior al valor de referencia para grasa saturada fue 86 % y carbohidratos simples 72 %. El patrón de consumo se caracterizó por superar las recomendaciones para azúcares (IRC = 1,29), leche y derivados (IRC = 1,09), cereales, raíces, plátanos y tubérculos (IRC = 1,04). No cumplieron las recomendaciones en la ingesta de grasas (IRC = 0,70), carnes, huevos, leguminosas, frutos secos y semillas (IRC = 0,49), frutas y verduras (IRC = 0,41). Conclusiones: El patrón alimentario identificado dista de las guías nacionales, lo que limita el consumo de macro y micronutrientes, y contribuye al círculo intergeneracional de la malnutrición. Es fundamental realizar nuevas investigaciones en el país para identificar otros patrones de consumo e impulsar acciones de política al respecto.

Objectives: To describe the prevalence of the risk of under or overnutrition and the food intake pattern vis á vis the recommendations of the Ministry of Health and Social Protection and the Colombian Family Welfare Institute. Material and methods: Descriptive cross-sectional study carried out in healthy women receiving care in two hospitals of eastern Antioquia, with food and nutrition security in accordance with the Latin American and Caribbean Food Security Scale (ELCSA), in the first trimester of breastfeeding, assessed between 2021 and 2022. The clinical record was used as the source of information. The sociodemographic, clinical, anthropometric characteristics, as well as dietary and micronutrient intake, were measured. Descriptive statistics were used. The prevalence of deficient or excessive energy intake and the food consumption score (FCS) are presented. The EVINDI v5, PC-SIDE v1.0, Stata 16.1 and Jasp 0.16.4 software packages were used. Results: Overall, 30 breastfeeding women were included. The prevalence of the risk of deficient energy intake was 43 %, while the risk of excessive intake was 16 % and the risk of protein deficiency was 98 %. Intake exceeding the reference value for saturated fats was 86 %, and 72 % for simple carbohydrates. The consumption pattern was characterized by exceeding the recommendations for sugars (FCS = 1.29), milk and dairy products (FCS = 1.09), grains, roots, plantains and tubers (FCS = 1.04). Recommendations for the intake of fats (FCS = 0.70), meats, eggs, legumes, nuts, seeds (FCS = 0.49), fruits and vegetables (FCS = 0.41) were not met. Conclusions: The food intake pattern identified is far from meeting the national guidelines, limiting macro and micronutrient intake and contributing to the intergenerational malnutrition cycle. Additional research in the country is essential in order to identify other intake patterns and drive political action.

Salud y discapacidad en niñas y niños argentinos con cardiopatías congénitas complejas operadas. Resultados a los dos años de vida / Health and disability in Argentine children with complex congenital heart disease undergoing surgery. Outcomes at 2 years of life

Introducción. Las cardiopatías congénitas complejas son las malformaciones más frecuentes con una importante carga de morbimortalidad. Se busca conocer el estado de salud y discapacidad de niños operados en un hospital de tercer nivel. Población y métodos. Fueron evaluados en las áreas de crecimiento, neurodesarrollo y discapacidad 84 pacientes entre 21 y 39 meses de edad operados con circulación extracorpórea durante el primer año de vida. Resultados. La mayoría de los niños crece por debajo del percentil 50 en los tres parámetros, con mayor compromiso en aquellos con síndrome genético asociado. La frecuencia de discapacidad fue del 55 %. En el grupo con CC aislada, la gravedad de la cardiopatía y el examen neurológico patológico al alta se asociaron con discapacidad (p = 0,047 y p = 0,03). Contar solo con cobertura de salud pública se asocia a un menor acceso a intervenciones oportunas (p = 0,02). Conclusiones. Cerca de la mitad de los pacientes evoluciona con discapacidad moderada-grave. Es competencia del equipo de salud conocer las morbilidades más allá del aspecto cardiovascular y los factores de riesgo. Las barreras en el acceso a las intervenciones adecuadas advierten a los profesionales sobre la relevancia de buscar estrategias para vencerlas y lograr el máximo potencial de desarrollo de los pacientes.

Introduction. Complex congenital heart defects are the most frequent malformations and entail a significant burden of disease. The objective of this study was to determine the health status and disability of children who underwent surgery at a tertiary care hospital. Population and methods. A total of 84 patients aged 21 to 39 months who had a surgery with extracorporeal circulation during their first year of life were assessed in terms of growth, neurodevelopment, and disability. Results. In most children, growth was below the 50th percentile in all 3 parameters, and greater involvement was observed in those with an associated genetic disorder. The frequency of disability was 55%. In the group with isolated congenital heart disease, the severity of disease and a pathological neurological examination at discharge were associated with disability (p = 0.047 and p = 0.03). Having only public health coverage was associated with less access to timely interventions (p = 0.02). Conclusions. Nearly half of the patients develop moderate-severe disability. Being aware of morbidities beyond the cardiovascular aspect and risk factors is part of the health care team's scope. Barriers in access to appropriate interventions caution health care providers of the relevance of seeking strategies to overcome them and achieve the maximum development potential of patients.

Abscesos cerebrales por Dermacoccus nishinomiyaensis como primera manifestación de enfermedad granulomatosa crónica / Dermacoccus nishinomiyaensis brain abscesses as the first manifestation of chronic granulomatous disease

La enfermedad granulomatosa crónica es una inmunodeficiencia primaria poco frecuente, que secaracteriza por defectos en alguna de las subunidades del complejo enzimático nicotinamida adeninadinucleótido fosfato oxidasa, que ocasiona un déficit en la generación de anión superóxido por losfagocitos. Dentro de este grupo, la forma ligada al X es la más frecuente. Se reporta el caso de una paciente de sexo femenino de 2 años con enfermedad granulomatosa crónica autosómica recesiva, con mutación en gen CYBA, quien presentó manifestación inicial de la enfermedad con abscesos cerebrales ocasionados por un germen oportunista (Dermacoccus nishinomiyaensis). Esta infección permitió la sospecha diagnóstica temprana, por lo que recibió el tratamiento y la profilaxis en forma oportuna. Actualmente, se encuentra libre de infecciones, a la espera del trasplante de células progenitoras hematopoyéticas.

Chronic granulomatous disease is a rare primary immunodeficiency characterized by defects in one of the subunits of the nicotinamide adenine dinucleotide phosphate oxidase enzyme complex, which causes a deficiency in the capacity of phagocytes to generate superoxide anion. Within this group, the X-linked form is the most frequent. Here we report the case of a 2-year-old female patient with autosomal recessive chronic granulomatous disease, with a mutation in the CYBA gene, whose initial manifestation was brain abscesses caused by an opportunistic microorganism (Dermacoccus nishinomiyaensis). The infection led to an early diagnostic suspicion, so treatment and prophylaxis were administered in a timely manner. Currently, she is infectionfree, awaiting hematopoietic progenitor cell transplantation.

Risk of renal damage associated with intravitreal anti-VEGF therapy for diabetic macular edema in routine clinical practice

Purpose: Vascular endothelial growth factor inhibitors (anti?VEGF) have been shown to be effective in the treatment of diabetic macular edema. However, there is little information about the systemic effects of intraocular administration of anti?VEGF drugs in patients with coexistent diabetic nephropathy because it can produce adverse renal effects. Methods: This retrospective cohort study analyzed the effect of intravitreal anti?VEGF drugs (bevacizumab, ranibizumab, or aflibercept) on eFGR and microalbuminuria (MicA) in patients with diabetic macular edema and nonproliferative retinopathy without chronic kidney disease (CKD). Results: Sixty?six patients were included, 54.5% male and 45.5% female, with a mean age of 66.70 ± 11.6 years. The mean follow?up of patients with antiangiogenic treatment was 42.5 ± 28.07 months, and the mean number of injections was 10.91 ± 7.54. In 12.1% of the cases, there was a worsening of the glomerular filtration rate (eFGR) and a 19.7% worsening of the microalbuminuria (MicA). The number of injections was not related to the worsening of the eFGR (P = 0.74) or the MicA (P = 0.239). No relationship was found between the type of drug and the deterioration of the GFR (P = 0.689) or the MicA (P = 0.53). Conclusions: Based on the results, there is a small proportion of patients with increase in MicA and the decrease in eFGR after anti?VEGF therapy, and these was no associated with the number of injection or the drug type. Ophthalmologists should be aware of renal damage in order to do a close monitoring of renal function and proteinuria after intravitreal administration of anti?VEGF mainly in hypertensive patients.

Improvement of bovine pestiviral diagnosis by the development of a cost-effective method for detecting viral RNA in fresh specimens and samples spotted in filter papers / Optimización del diagnóstico de Pestivirus bovinos mediante el desarrollo de una metodología económica para detectar ARN viral en muestras frescas y fijadas en papeles de filtro

Abstract Bovine pestiviruses are the causative agents of bovine viral diarrhea, a disease thatcauses severe economic losses in cattle. The aim of this study was to improve their diagnosisby developing a RT-qPCR to detect bovine pestiviruses A, B and H; and to set up a protocolfor collecting, shipping and preserving bovine pestiviral RNA on filter papers. The developedRT-qPCR showed high sensitivity in detecting these viruses in different matrices: viral stocks,semen and serum samples. With regard to the possibility of using the technique to test serumpools, it was possible to identify a positive serum sample within a pool containing 30 sera.In addition to evaluating the qPCR from fresh samples, the use of filter papers to sow bovinesamples was analyzed. The sampling method on two different filter papers using bovine blooddrops was a useful alternative for diagnostic purposes and allowed to preserve pestiviral RNAfor up to 12 months under refrigeration.

Resumen Los Pestivirus bovinos son los agentes causales de la diarrea viral bovina, una enfermedad que genera importantes pérdidas económicas en el ganado vacuno. El objetivo de este trabajo fue mejorar su diagnóstico mediante el desarrollo de una RT-qPCR para detectar los Pestivirus bovinos A, B y H y disenar un protocolo de recolección, envío y conservación de ARN viral en papeles de filtro. La RT-qPCR desarrollada demostró alta sensibilidad en la detección de estos virus en diferentes matrices: stock viral, suero y semen. Respecto de la posibilidad de usar la técnica para testear pools de suero, fue posible identificar un suero positivo dentro de un pool compuesto por 30 sueros. Además de evaluar la qPCR en muestras frescas, se analizó el uso de papeles de filtro para sembrar muestras de bovinos. La metodología de toma de muestras en dos tipos de papeles de filtro usando gotas de sangre fue una alternativa útil para el diagnóstico y permitió conservar ARN viral por hasta 12 meses a temperaturas de refrigeración.

Commotio cordis (conmoción cardíaca) en un niño. Reporte de un caso / Commotio cordis (cardiac concussion) in a child. A case report

Commotio cordis o conmoción cardíaca es un síndrome arritmogénico mecano-eléctrico raro y mortal. Es la segunda causa de muerte súbita en atletas jóvenes. Se asocia con una lesión que se produce durante la práctica deportiva, en la que un proyectil impacta a alta velocidad en el precordio y provoca una arritmia que conduce a la muerte inmediata del individuo sin una reanimación cardíaca. En las autopsias, los corazones son estructuralmente sanos. Con el conocimiento de este síndrome y las capacitaciones de reanimación cardiorrespiratoria a la comunidad, las tasas de supervivencia han mejorado. El objetivo de este trabajo es describir un paciente que llegó a nuestro hospital con conmotio cordis y su evolución, enfatizando la importancia de medidas de prevención y capacitación de la población en técnicas de reanimación cardiopulmonar y uso del desfibrilador externo automático para la supervivencia de los pacientes que sufren esta entidad.

Commotio cordis or cardiac concussion is a rare and fatal mechano-electric arrhythmogenic syndrome. It is the second most common cause of sudden cardiac death in young athletes. It is most commonly associated with a sports-related injury, wherein, there is a high-velocity impact between a projectile and the precordium, causing arrhythmia that leads to the immediate death of the individual without cardiac resuscitation. On autopsy, the heart is structurally normal. With increasing awareness of this condition and community training in cardiopulmonary resuscitation, survival rates have been improving. The objective of this study is to describe the case of a patient who arrived at our hospital with commotio cordis and his course, emphasizing the importance of prevention and training of the population in cardiopulmonary resuscitation techniques and the use of the automated external defibrillator for the survival of patients suffering from commotio cordis.

Múltiples reacciones adversas graves a fármacos en un paciente luego de la infección por COVID-19: informe de un caso / Drug-induced severe cutaneous adverse reactions in a patient after COVID-19 infection: case report

Durante la pandemia por COVID-19 se observaron diversas reacciones adversas a fármacos. Esto pudo haber estado relacionado con una mayor susceptibilidad inmunológica de los pacientes con SARS-CoV-2 a presentar este tipo de cuadros, así como también con la exposición a múltiples medicamentos utilizados en su tratamiento. Comunicamos el caso de un paciente con una infección respiratoria grave por COVID-19, que presentó 2 reacciones adversas graves a fármacos en un período corto de tiempo. (AU)

During the COVID-19 pandemic, various adverse drug reactions were observed. This could have been related to a greater immunological susceptibility of patients with SARS-CoV-2 to present this type of symptoms, as well as exposure to multiple drugs used in their treatment. We report the case of a patient with a severe respiratory infection due to COVID-19, who presented 2 serious adverse drug reactions associated with paracetamol in a short period of time. (AU)

Concordancia entre la prueba de puntuación de recurrencia de 21 genes y modelos clínico-patológicos predictivos en pacientes con cáncer de mama temprano en un centro oncológico en Colombia / Concordance between 21-gene recurrence score assay and clinicopathological predictive models in early-breast cancer patients cared for at a cancer center in Colombia

Resumen Introducción: La prueba genómica de recurrencia de 21 genes (PGR21) permite determinar la utilidad de la quimioterapia adyuvante en pacientes con cáncer de mama temprano luminal (CMTL). Se han desarrollado modelos predictivos adicionales, como las ecuaciones de Magee (EM), el modelo Predict (MP) y la puntuación del nomograma de la Universidad de Tennessee (NT). Objetivo: Evaluar la concordancia entre PGR21, EM, MP y NT. Métodos: Se incluyeron pacientes con CMTL unifocal y con resultados de PGR21, EM, MP y NT. Se efectuó subanálisis de mujeres mayores de 50 años. La concordancia se evaluó mediante índice kappa de Cohen (IK). Resultados: Se incluyeron 122 mujeres. La concordancia entre PGR21 y EM (IK = 0.35) y MP (IK = 0.24) fue aceptable (p < 0.001); entre PGR21 y NT fue inferior (IK = 0.16, p = 0.04). Se incluyeron 80 pacientes mayores de 50 años con datos suficientes para calcular los tres modelos. Se encontró concordancia entre la clasificación de bajo riesgo mediante PGR21 y los tres modelos combinados en 36/37 pacientes (valor predictivo negativo de 97.3 %). Conclusión: Se puede omitir la PGR21 en las mujeres mayores de 50 años con CMTL que se clasifica de bajo riesgo en los tres modelos predictivos.

Abstract Introduction: The genomic-based 21-gene recurrence score assay (21-GRSA) allows to determine the usefulness of adjuvant chemotherapy in patients with luminal-type early breast cancer (LTEBC). Additional predictive models have also been developed, such as Magee equations (ME), the Predict model (PM), and the Tennessee nomogram score (TNS). Objective: To evaluate the concordance between 21-GRSA, ME, PM and TNS. Methods: Patients with unifocal LTEBC and 21-GRSA, ME, PM and TNS results were included. A subgroup analysis of women older than 50 years was carried out. Concordance between the models and 21-GRSA was evaluated using Cohen's kappa index (KI). Results: One-hundred and twenty-two women were included. Concordance between 21-GRSA and ME (KI = 0.35) and PM (KI = 0.24) was fair (p < 0.001). Concordance between 21-GRSA and TNS was inferior (KI = 0.16, p = 0.04). Eighty patients older than 50 years with sufficient data to calculate all three predictive models were included. Concordance was found between the low-risk classification on 21-GRSA and all three combined models in 36/37 patients (negative predictive value of 97.3%). Conclusion: 21-GRSA can be omitted in women older than 50 years with LTEBC classified with low risk scores on all three predictive models.

Anticuerpos anti-SARS-CoV-2 en personal de salud de un hospital pediátrico / SARS-CoV-2 antibodies among health care workers from a children's hospital

Introducción. En Argentina, el personal de salud ha sido el primero en vacunarse contra COVID-19, pero todavía existen pocos datos sobre la producción de anticuerpos IgG anti-S. Objetivos. Evaluar IgG específica contra glicoproteína spike del SARS-CoV-2 (IgG anti-S) posvacunación en personal de un hospital pediátrico. Explorar la asociación entre presencia de dichos anticuerpos, edad y antecedente de infección previa. Población y métodos. Estudio transversal que incluyó 193 trabajadores vacunados con los dos componentes de la vacuna Sputnik V. Se pesquisó el título de IgG anti-S y se registraron edad, antecedente de infección previa por SARS-CoV-2 y fecha de la vacunación. Resultados. El 98,6 % de los sujetos generó IgG anti-S. El título fue mayor en quienes habían cursado infección previamente (p <0,001), pero no hubo relación con la edad de los sujetos. Conclusión. Aportamos datos de generación de anticuerpos IgG anti-S posvacunación en personal de salud de un hospital pediátrico y exploramos algunos predictores.

Introduction. In Argentina, health care workers have been the first ones to receive the COVID-19 vaccine, but there are still few data on the production of anti-S IgG antibodies. Objectives. To assess specific IgG against the SARS-CoV-2 spike protein (anti-S IgG) after the vaccination of health care workers from a children's hospital. To explore the association between the presence of these antibodies, age, and history of prior infection. Population and methods. Cross-sectional study in 193 workers who received both doses of the two component Sputnik V vaccine. The anti-S IgG antibody titer was measured and age, history of prior SARS-CoV-2 infection, and date of vaccination were recorded. Results. Anti-S IgG antibodies were produced in 98.6% of the subjects. The titer was higher in those with prior infection (p < 0.001), but no relationship was established with subjects' age. Conclusion. We provide data on post-vaccination production of IgG anti-S antibodies among health care workers from a children's hospital and explore some predictors.

Características clínicas y epidemiológicas de las muertes por dengue durante un brote en el norte del Perú / Clinical-epidemiological characteristics of dengue deaths during an outbreak in northern Peru

Con el objetivo de describir las características clínicas y epidemiológicas de los pacientes fallecidos por dengue durante el 2017 en Piura, se realizó un estudio retrospectivo de revisión de 24 historias clínicas. El 67% de los casos fueron mujeres y tres (12,5%) estaban embarazadas. La diabetes (12,5%) y la hipertensión (16,7%) fueron las comorbilidades más frecuentes. Sólo en el 12,5% se reportó dengue previo. El tiempo transcurrido desde asistencia sanitaria hasta la muerte fue de 4,10 (DE: 5,34) días. Se hicieron transfusiones de glóbulos rojos en el 45,8% de los casos, plasma en el 25%, plaquetas en el 16,8% y crioprecipitado en el 16,8%. También fueron frecuentes la terapia con cristaloides (91,7%) y el tratamiento con fármacos vasoactivos (70,8%). En conclusión, la mortalidad del dengue grave fue mayoritaria en las mujeres adultas y el tiempo de atención desde el primer establecimiento de salud hasta una unidad especializada fue prolongada.

Objective: To describe the clinical-epidemiological characteristics of patients who died from dengue during 2017. Methods: We conducted a retrospective study of the information related to cases of dengue deaths in the department of Piura. Results: We reviewed 24 medical records. Sixty-seven percent were women and 3 (12.5%) were pregnant. Diabetes (12.5%) and hypertension (16.7%) were the most frequent comorbidities. Previous dengue fever was reported in only 12.5%. The time from health care and death was 4.10 ± 5.34 days. Red blood cell transfusions were performed in 45.8%, plasma in 25%, platelets in 16.8% and cryoprecipitate in 16.8% of cases. Crystalloid therapy (91.7%) and treatment with vasoactive drugs (70.8%) were also frequent. In conclusion, mortality from severe dengue fever was predominantly in adult women, and the time of care from the first health facility to a specialized unit was prolonged.

Neuropilins as potential biomarkers in hepatocellular carcinoma: a systematic review of basic and clinical implications

Hepatocellular carcinoma (HCC) is one of the most common and deadly cancers worldwide and is characterized by complex molecular carcinogenesis. Neuropilins (NRPs) NRP1 and NRP2 are the receptors of multiple proteins involved in key signaling pathways associated with tumor progression. We aimed to systematically review all the available findings on their role in HCC. We searched the Scopus, Web of Science (WOS), PubMed, Cochrane and Embase databases for articles evaluating NRPs in preclinical or clinical HCC models. This study was registered in PROSPERO (CRD42022349774) and include 49 studies. Multiple cellular and molecular processes have been associated with one or both NRPs, indicating that they are potential diagnostic and prognostic biomarkers in HCC patients. Mainly NRP1 has been shown to promote tumor cell survival and progression by modulating several signaling pathways. NRPs mainly regulate angiogenesis, invasion and migration and have shown to induce invasion and metastasis. They also regulate the immune response and tumor microenvironment, showing a crucial interplay with the hypoxia response and microRNAs in HCC. Altogether, NRP1 and NRP2 are potential biomarkers and therapeutic targets, providing novel insight into the clinical landscape of HCC patients.

Risk of Cognitive Impairment in Patients With Parkinson’s Disease With Visual Hallucinations and Subjective Cognitive Complaints

Background@#and Purpose Visual hallucinations (VH) and subjective cognitive complaints (SCC) are associated with cognitive impairment (CI) in Parkinson’s disease. Our aims were to determine the association between VH and SCC and the risk of CI development in a cohort of patients with Parkinson’s disease and normal cognition (PD-NC). @*Methods@#Patients with PD-NC (total score of >80 on the Parkinson’s Disease Cognitive Rating Scale [PD-CRS]) recruited from the Spanish COPPADIS cohort from January 2016 to November 2017 were followed up after 2 years. Subjects with a score of ≥1 on domain 5 and item 13 of the Non-Motor Symptoms Scale at baseline (V0) were considered as “with SCC” and “with VH,” respectively. CI at the 2-year follow-up (plus or minus 1 month) (V2) was defined as a PD-CRS total score of <81. @*Results@#At V0 (n=376, 58.2% males, age 61.14±8.73 years [mean±SD]), the frequencies of VH and SCC were 13.6% and 62.2%, respectively. VH were more frequent in patients with SCC than in those without: 18.8% (44/234) vs 4.9% (7/142), p<0.0001. At V2, 15.2% (57/376) of the patients had developed CI. VH presenting at V0 was associated with a higher risk of CI at V2 (odds ratio [OR]=2.68, 95% confidence interval=1.05–6.83, p=0.039) after controlling for the effects of age, disease duration, education, medication, motor and nonmotor status, mood, and PD-CRS total score at V0. Although SCC were not associated with CI at V2, presenting both VH and SCC at V0 increased the probability of having CI at V2 (OR=3.71, 95% confidence interval=1.36–10.17, p=0.011). @*Conclusions@#VH were associated with the development of SCC and CI at the 2-year follow-up in patients with PD-NC.

Association between erectile dysfunction and the severity of obstruction to airflow in patients with chronic obstructive pulmonary disease / Asociación entre disfunción eréctil y la severidad de la obstrucción al flujo aéreo en pacientes con enfermedad pulmonar obstructiva crónica

Objectives: The objective of this study was to explore a possible association between ED and the severity of airflow obstruction in patients with COPD. Materials and methods: A cross-sectional study was conducted using the International Index Erectile Function (IIEF), a scale validated and translated to Spanish. Bivariate analyses between subgroups were made for quantitative variables using a t-test for means and Mann­Whitney U for medians; qualitative variables were compared using the χ2 test or Fisher's test, depending on distribution. Confusion bias in the association between ED and airflow obstruction was controlled using a logistic regression model. Results: The Spanish version of the IIEF-15 scale was valid and applicable to the Colombian population. The prevalence of ED in COPD patients living at high altitudes was similar to that found at sea level. Such prevalence is higher than in general population. Beta-blockers increased 7 times the risk of ED, but we found no association between the degree of airflow obstruction and ED. Conclusion: Although the severity of COPD is not associated with ED, the prevalence of ED in COPD is higher than in general population. Therefore, ED screening in COPD patients using the IIEF could be justified. The strong association between beta-blockers and ED had not been previously described in patients with COPD but must be considered in their clinical management.

Objetivos: Explorar una posible asociación entre DE y severidad de la obstrucción al flujo aéreo en pacientes con EPOC. Materiales y métodos: Estudio de corte transversal aplicando el Índice Internacional de Función Eréctil (IIFE), validado y traducido al español. Se realizó análisis bivariado para variables cuantitativas usando prueba-t para medias y U de Mann Whitney para medianas; las variables cualitativas fueron comparadas usando prueba de Chi2 o test de Fisher, según distribución. Los sesgos de confusión en la asociación entre DE y obstrucción al flujo aéreo fueron controlados usando un modelo de regresión logística. Resultados: La versión en español de la escala IIFE-15 fue aplicable en población colombiana. La prevalencia de DE en pacientes con EPOC viviendo a gran altura fue similar a lo encontrado a nivel del mar. Esta prevalencia es mayor que en población general. El uso de beta-bloqueadores aumentó hasta siete veces el riesgo de DE, pero no se encontró asociación entre el grado de obstrucción y la DE. Conclusiones: Aunque la severidad de la EPOC no está asociada con DE, la prevalencia de DE en EPOC es mayor que en población general. Está justificada la realización de tamizaje usando el IIFE. La asociación fuerte entre beta-bloqueadores y DE no se ha descrito previamente en pacientes con EPOC, pero debe considerarse en su manejo.

Hiperkalemia crónica, diagnóstico y manejo. Consenso colombiano / Chronic hyperkalemia, diagnosis and management. Colombian consensus

Resumen Objetivo: Generar recomendaciones para el diagnóstico, el manejo y el seguimiento de la hiperkalemia crónica. Método: Este consenso fue realizado por nefrólogos y cardiólogos siguiendo la metodología GRADE. Resultados: La hiperkalemia crónica puede definirse como una condición bioquímica, con o sin manifestaciones clínicas, caracterizada por una elevación recurrente de las concentraciones séricas de potasio que puede requerir una intervención farmacológica, no farmacológica o ambas. Puede clasificarse en leve (K+ 5,0 a < 5,5 mEq/l), moderada (K+ 5,5 a 6,0 mEq/l) o grave (K+ > 6,0 mEq/l). Su incidencia y prevalencia no han sido claramente determinadas. Se consideran factores de riesgo la enfermedad renal crónica, la insuficiencia cardiaca crónica, la diabetes mellitus, la edad ≥ 65 años, la hipertensión arterial y el tratamiento con inhibidores del sistema renina-angiotensina-aldosterona (iSRAA), entre otros. No hay consenso sobre el manejo de la hiperkalemia crónica. Se sugiere identificar y eliminar o controlar los factores de riesgo, brindar asesoramiento sobre la ingesta de potasio y, para quien esté indicado, optimizar la terapia con iSRAA, administrar aglutinantes orales del potasio y corregir la acidosis metabólica. Conclusiones: Se recomienda prestar atención al diagnóstico, el manejo y el seguimiento de la hiperkalemia crónica, en especial en los pacientes con factores de riesgo.

Abstract Objective: Generate recommendations for the diagnosis, management, and follow-up of chronic hyperkalemia. Method: This consensus was made by nephrologists and cardiologists following the GRADE methodology. Results: Chronic hyperkalemia can be defined as a biochemical condition with or without clinical manifestations characterized by a recurrent elevation of serum potassium levels that may require pharmacological and or non-pharmacological intervention. It can be classified as mild (K+ 5.0 to < 5.5 mEq/L), moderate (K+ 5.5 to 6.0 mEq/L) or severe (K+ > 6.0 mEq/L). Its incidence and prevalence have yet to be determined. Risk factors: chronic kidney disease, chronic heart failure, diabetes mellitus, age ≥ 65 years, hypertension, and drugs that inhibit the renin angiotensin aldosterone system (RAASi), among others. There is no consensus for the management of chronic hyperkalemia. The suggested pattern for patients is to identify and eliminate or control risk factors, provide advice on potassium intake and, for whom it is indicated, optimize RAASi therapy, administer oral potassium binders and correct metabolic acidosis. Conclusions: The recommendation is to pay attention to the diagnosis, management, and follow-up of chronic hyperkalemia, especially in patients with risk factors.