Genetic profile of a large Spanish cohort with hypercalcemia.

Introduction: The disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with which they are expressed are nonspecific or present only as a laboratory finding, usually hypercalcemia. Because many of these disorders have a genetic etiology, in the present study, we sequenced a selection of 55 genes encoding the principal proteins involved in the regulation of calcium metabolism. Methods: A cohort of 79 patients with hypercalcemia were analyzed by next-generation sequencing. Results: The 30% of our cohort presented one pathogenic or likely pathogenic variant in genes associated with hypercalcemia. We confirmed the clinical diagnosis of 17 patients with hypocalciuric hypercalcemia (pathogenic or likely pathogenic variants in the CASR and AP2S1 genes), one patient with neonatal hyperparathyroidism (homozygous pathogenic variant in the CASR gene), and another patient with infantile hypercalcemia (two pathogenic variants in compound heterozygous state in the CYP24A1 gene). However, we also found variants in genes associated with primary hyperparathyroidism (GCM2), renal hypophosphatemia with or without rickets (SLC34A1, SLC34A3, SLC9A3R1, VDR, and CYP27B1), DiGeorge syndrome (TBX1 and NEBL), and hypophosphatasia (ALPL). Our genetic study revealed 11 novel variants. Conclusions: Our study demonstrates the importance of genetic analysis through massive sequencing to obtain a clinical diagnosis of certainty. The identification of patients with a genetic cause is important for the appropriate treatment and identification of family members at risk of the disease.

Primary Cutaneous CD4 Small/Medium T-Cell Lymphoproliferative Disorder Following COVID-19 Vaccination-What Do We Know about Lymphoproliferative Disorders and Cutaneous Lymphomas after COVID-19 Vaccination? A Report of an Atypical Case and a Review of the Literature.

The association between Primary cutaneous CD4 small/medium T-cell lymphoproliferative disorder (PCSM-TCLPD) and COVID-19 immunization has been sparsely documented in the medical literature. Reviewing the literature, albeit infrequently, we can find cases of the recurrence and new onset of lymphoproliferative processes and cutaneous lymphomas following the COVID-19 vaccine. Many of the entities we encounter are classified as cutaneous lymphoproliferative disorders. The prevailing hypothesis suggests that the predominant cutaneous reactions to SARS-CoV-2 vaccines may stem from T-cell-mediated immune activation responses to vaccine components, notably messenger RNA (mRNA). Specifically, it is posited that the presence of cutaneous lymphoid infiltrates may be linked to immune system stimulation, supported by the absence, to date, of instances of primary cutaneous B-cell lymphoma following mRNA vaccination. Within this context, it is imperative to underscore that the etiological association between PCSM-TCLPD and COVID-19 vaccination should not discourage vaccination efforts. Instead, it underscores the necessity for continuous surveillance, in-depth investigation, and comprehensive follow-up studies to delineate the specific attributes and underlying mechanisms of such cutaneous manifestations post vaccination.

Diversity patterns of vascular and non-vascular epiphytes along tropical dry forest / Patrones de diversidad de epífitas vasculares y no vasculares a lo largo del bosque seco tropical

Abstract Introduction: Epiphytes (vascular and non-vascular) are one of the most diverse groups in the Neotropics, but despite their importance in the functioning of many ecosystems, much of their taxonomy and ecology is still unknown in the dry forest of Colombia. Objective: To compare the diversity patterns and species composition of vascular and non-vascular epiphytes along tropical dry forest remnants of Cauca Valley, Colombia. Methods: Ten permanent plots (50 x 20 m2) were established in tropical dry forest remnants. The epiphytes were sampled in 40-50 trees per plot. Alpha and gamma diversity were calculated using the richness (q0) and Shannon index (q1) (alpha was estimated as the average for phorophytes). Beta diversity was measured using the Whitaker index. To evaluate the relationship between diversities and environmental variables, GLM analysis was used. Results: We found 50 morphospecies of vascular epiphytes, 77 of bryophytes and 290 of lichens. The 𝛼 and 𝛾 diversity of bryophytes from each remnant was significantly explained by temperature. The abundance of lichens per tree was significantly related with the DBH and tree height of each remnant. The 𝛼 diversity of vascular epiphytes shown can be explained by temperature and precipitation. The 𝛾 diversity was strongly influenced by the beta diversity in bryophytes and lichens. This pattern is because the sites with high disturbance present a lower diversity, as a consequence of a homogenizing effect, that is, a low turnover of species between sampling units. Conclusions: Precipitation and temperature affected the diversity of bryophytes and vascular epiphytes, while it did not show a relationship with the lichen's diversity, for which there is not a high congruence between the diversity and composition of these epiphytes.

Resumen Introducción: Los epífitos (vasculares y no vasculares) son uno de los más diversos grupos de plantas en el Neotrópico, pero a pesar de su importancia para el funcionamiento de varios ecosistemas, existen grandes vacíos en su conocimiento taxonómico y ecológico en el bosque seco de Colombia. Objetivo: Comparar los patrones de diversidad y composición de especies de epífitas vasculares y no vasculares a lo largo de remanentes de bosque seco tropical del Valle del Cauca, Colombia. Métodos: Se establecieron diez parcelas permanentes (50 x 20 m2) en remanentes de bosque seco tropical. Las epífitas se muestrearon en 40-50 árboles por parcela. La diversidad alfa y gamma se calculó utilizando la riqueza (q0) y el índice de Shannon (q1) (alfa se estimó como el promedio para los forófitos). La diversidad beta se midió utilizando el índice de Whitaker. Para evaluar la relación entre diversidades y variables ambientales se utilizó el análisis GLM. Resultados: Se encontraron 50 morfoespecies de epífitas vasculares, 77 de briófitas y 290 de líquenes. La diversidad de 𝛼 y 𝛾 de briófitas de cada remanente fue explicada significativamente por la temperatura. La abundancia de líquenes por árbol se relacionó significativamente con el DAP y la altura del árbol de cada remanente. La diversidad 𝛼 de epífitas vasculares que se muestra puede explicarse por la temperatura y la precipitación. La diversidad 𝛾 estuvo fuertemente influenciada por la diversidad beta en briófitas y líquenes. Este patrón se debe a que los sitios con alta perturbación presentan una menor diversidad, como consecuencia de un efecto homogeneizador, es decir, un bajo recambio de especies entre unidades de muestreo. Conclusiones: La precipitación y la temperatura afectaron la diversidad de briófitas y epífitas vasculares, mientras que no mostró relación con la diversidad de líquenes, por lo que no existe una alta congruencia entre la diversidad y composición de estas epífitas.

Características clínico-patológicas de pacientes jóvenes con cáncer de mama en un centro oncológico en Medellín / Clinical and pathological characteristics of young patients with breast cancer at a cancer center in Medellin

Introducción: El cáncer de mama es la principal neoplasia en mujeres y se ha reportado un aumento de la incidencia en jóvenes menores a 40 años. El objetivo del presente estudio fue describir las características clínicas y patológicas, de pacientes con cáncer de mama invasor, ≤40 años, atendidas en un centro de referencia oncológico en Medellín-Colombia. Metodología: Se realizó un estudio transversal, realizado en la Clínica Vida (Fundación Colombiana de Cancerología), en el período enero del 2015 a diciembre del 2019. La muestra fue no probabilística, de pacientes con diagnóstico oncológico de cáncer de mama invasor. Se registró edad, tipo de cáncer, antecedentes familiares, recidivas y mortalidad. Se utiliza estadística descriptiva. Resultados: De 2332 casos de nuevos de cáncer de mama invasor, 261 se identificaron en mujeres ≤ 40 años, 11.19 % (IC 95 % 11.17-11.22 %), edad de 34.2 ± 4 años. 16.5 % en menores de 30 años, 40.2 % en edad de 30 a 45 años y 42.2 % en mujeres de 35 a 40 años. La presentación principal fue masa palpable auto detectada. El subtipo molecular Luminal A 16 %, Luminal B 48.3 %, Her2 enriquecido 11.2 % y Triple negativo 21.6 %. El 27 % tuvo algún antecedente familiar. La recidiva fue del 14 % y la mortalidad del 14.9 %. Conclusión: El 11 % de pacientes con cáncer de mama en esta serie corresponde a mujeres jóvenes, con una presentación en estadios más avanzados y biología molecular desfavorable, lo cual requirió un manejo más agresivo y radical. Esto resalta la importancia del diagnóstico oportuno en pacientes de lesiones mamarias en mujeres jóvenes.

Introduction: Breast cancer is the main neoplasm in women, and an increased incidence has been reported in young people under 40 years of age. The objective of the present study was to describe the clinical and pathological characteristics of patients with invasive breast cancer, ≤40 years old, treated at a reference oncology center in Medellín-Colombia. Methodology: A cross-sectional study was carried out by the Vida Clinic (Colombian Cancer Foun-dation) from January 2015 to December 2019. The sample was nonprobabilistic of patients with an oncological diagnosis of invasive breast cancer. Age, type of cancer, family history, recurrence, and mortality were recorded. Descriptive statistics are used. Results: Of 2332 cases of new invasive breast cancer, 261 were identified in women ≤ 40 years, 11.19% (95% CI 11.17-11.22%), age 34.2±4 years. 16.5% in those under 30 years of age, 40.2% in women between 30 and 45 years of age, and 42.2% in women between 35 and 40 years of age. The main presentation was a self-detected palpable mass. The molecular subtypes luminal A 16%, luminal B 48.3%, Her2 enriched 11.2%, and triple-negative 21.6%. A total of 27% had a family history. Recurrence was 14%, and mortality was 14.9%. Conclusion: Eleven percent of patients with breast cancer in this series were young women, with a presentation in more advanced stages and unfavorable molecular biology, which requires more aggressive and radical management. This highlights the importance of timely diagnosis in young women with breast injuries.

Depresión mayor en población general de Envigado (Colombia): prevalencia y factores asociados / Major depression in the general population of Envigado (Colombia): prevalence and associated factors

Resumen Introducción: La depresión afecta a más de 300 millones de personas en el mundo, es la principal causa de discapacidad y contribuye de forma importante a la carga mundial de morbilidad. Objetivo: Determinar la prevalencia y algunos factores personales, sociales y familiares asociados al trastorno de depresión mayor en población de 15 a 65 años del municipio de Envigado (Colombia) en el año 2017. Método: Estudio transversal con intención analítica, a partir de la información de 905 participantes del "Estudio Poblacional de Salud Mental, Envigado 2017", recopilada a través de entrevistas realizadas con la World Health Organization Composite International Diagnostic Interview -CIDI-OMS. El procesamiento se realizó mediante el programa SPSS versión 23. Resultados: Cuatro factores explican la probabilidad de depresión mayor en el último año, en la población de estudio: el abuso de drogas diferentes al alcohol (ORaj=4,43 [1,164-16,833]), la muerte o enfermedad de un familiar cercano (ORaj=4,15 [1,583-10,880]), presentar altos niveles de resiliencia (ORaj=0,22 [0,112-0,425]) y una percepción excelente o buena de su salud mental (ORaj=0,19 [0,098-0,378]). Conclusiones: Los factores que aumentan la probabilidad de depresión mayor en la población de estudio son: abuso de drogas diferentes al alcohol y la muerte o enfermedad de un familiar de primer grado de consanguinidad; y los factores protectores son altos niveles de resiliencia y una percepción excelente o buena de la propia salud mental. Esta evidencia refuerza la necesidad de implementar programas de promoción centrados en el mejoramiento de habilidades para la vida, que propicien estrategias adecuadas frente a los desafíos.

Abstract Introduction: Depression affects more than 300 million people in the world, it is the leading cause of disability and contributes significantly to the global burden of disease. Objective: To determine the prevalence and some social, personal, and family factors associated with major depressive disorder in a population aged from 15 to 65 in Envigado (Colombia) in 2017. Methods: A cross-sectional study with analytical intent was conducted, based on the information from 905 participants for the "Population study of mental health 2017", collected through interviews administered by means of the World Health Organization Composite International Diagnostic Interview -CIDI-OMS. The processing was performed using the SPSS program version 23. (CES University License). Results: Four factors correlate with major depression in the last year in the study population: drug abuse other than alcohol (ORaj = 4,43 [1,164-16,833]), a close relative´s death or illness (ORaj = 4,15 [1,583-10,880]), high resilience (ORaj = 0.22 [0,112-0,425]) and an excellent or good mental health perception (ORaj = 0.19 [0.098-0.378]). Conclusions: the factors that increase the probability of major depression in the study population are drug abuse other than alcohol and the death or illness of a first-degree relative; and the protective factors are high levels of resilience and an excellent or good perception of one's own mental health. This evidence reinforces the need to implement promotion programs focused on improvement of life skills, which provide adequate strategies to face the challenges.