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Resumen El examen de rutina de los donantes de órganos para detectar la infección por el virus de la inmunodeficiencia humana (HIV) ha hecho que la transmisión del virus mediante el trasplante de órganos sea poco común. Sin embargo, a pesar de las pruebas de detección de rutina, la transmisión del HIV continúa siendo un riesgo del trasplante de órganos ya que, a diferencia de los tejidos, los órganos sólidos no se pueden procesar, desinfectar, ni modificar para inactivar patógenos infecciosos. A continuación, se describe un caso de posible transmisión de HIV por trasplante de órganos de un donante previamente seronegativo a dos de sus receptores.

Abstract Routine screening of organ donors to detect human immunodeficiency virus (HIV) infection has detected the rare transmission of the virus through organ transplantation. However, despite routine screening, HIV transmission remains a risk in organ transplantation since, unlike tissues, solid organs cannot be processed, disinfected, or modified to inactivate infectious pathogens. A case of possible transmission of HIV by organ transplant is described below, from a previously seronegative donor to two recipients.

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Introducción. Los pacientes octogenarios y nonagenarios conforman un grupo etario en progresivo crecimiento. La hernia inguinal es una patología que aumenta progresivamente con la edad. Este trabajo tuvo como objetivo conocer los resultados quirúrgicos de los pacientes mayores de 80 años a quienes se les realizó herniorrafía inguinal. Métodos. De acuerdo con las guías PRISMA, se realizó una revisión sistemática de PubMed, Embase y Google Scholar. Se incluyeron estudios que reportaron la incidencia de complicaciones y mortalidad después de una herniorrafía inguinal en los pacientes octogenarios y nonagenarios. Se calculó la proporción de pacientes con complicaciones después de una herniorrafía inguinal según los datos presentados, con su respectivo intervalo de confianza del 95 %. Resultados. Catorce estudios reportaron un total de 19.290 pacientes, entre quienes se encontró una incidencia acumulada de infección del sitio operatorio de 0,5 % (IC95% 0,460 - 0,678), seroma de 8,7 % (IC95% 6,212 - 11,842), hematoma de 2,6 % (IC95% 2,397 - 2,893), dolor crónico de 2,1 % (IC95% 0,778 - 4,090) y recidiva de 1,2 % (IC95%0,425 - 2,284), para una morbilidad de 14,7 % (IC95% 9,525 - 20,833). Conclusión. Las complicaciones de la herida quirúrgica, el dolor crónico y la recidiva en los pacientes mayores de 80 años a quienes se les realiza herniorrafia inguinal son comparables con las de la población general.

Introduction. Octogenarian and nonagenarian patients constitute a progressively growing age group. Inguinal hernia is a pathology that increases with age. This study aims to understand the surgical outcomes of inguinal herniorrhaphy in patients over 80 years of age. Methods. A systematic review of PubMed, Embase, and Google Scholar was conducted following PRISMA guidelines. Studies reporting the incidence of complications and mortality after inguinal herniorrhaphy in octogenarian and nonagenarian patients were included. The proportion of patients with complications after inguinal herniorrhaphy was calculated based on the data presented, with its respective 95% confidence interval. Results. Fourteen studies reported a total of 19,290 patients, among whom a cumulative incidence of surgical site infection of 0.5 (95% CI 0.460 ­ 0.678), seroma of 8.7% (95% CI 6.212 ­ 11.842), hematoma of 2.6% (95% CI 2.397 ­ 2.893), chronic pain 2.1% (95% CI 0.778 ­ 4.090), recurrence 1.2% (95% CI 0.425 ­ 2.284), and morbidity 14.7% (95% CI 9.525 ­ 20.833) were found. Conclusion. Surgical wound complications, chronic pain, and recurrence in patients over 80 years of age undergoing inguinal herniorrhaphy are comparable to those in the general population.

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The impact of chronic obstructive pulmonary disease (COPD) on heart failure (HF) has yet to be well assessed in the Latin American population. This study aimed to analyze the impact of COPD on HF patients from the Colombian Heart Failure Registry (RECOLFACA). The primary outcome was all-cause mortality. A Cox proportional-hazards regression model was used to assess the impact of COPD on mortality. From the total of 2528 patients in the registry, 2514 patients had information regarding COPD diagnosis. COPD diagnosis was associated with a worse functional class and higher use of diuretics than non-COPD patients (p < 0.001). Patients with this comorbidity had a significantly better ejection fraction (median ejection fraction 35% vs. 32% in non-COPD patients; p = 0.004), with a higher occurrence of HF with preserved ejection fraction (HFpEF) in the COPD group (p = 0.000). Finally, patients with COPD had a significantly higher risk of mortality in the multivariate regression model (HR 1.47; 95% CI 1.02, 2.11). COPD is a prevalent comorbidity among patients with HF in Colombia, showing a different clinical profile and a worse functional class than patients without this condition. Patients with COPD and HFpEF have a high mortality risk according to our results.

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The effect of the health insurance type on the prognosis of heart failure (HF) patients in Colombia and Latin America is poorly known. We aimed to analyze the characteristics of HF patients that participated in the Colombian Heart Failure Registry (RECOLFACA) as stated by their health insurance type and their relationship with the immediate prognosis of these patients. Patients with HF diagnosis were included in the RECOLFACA registry between 2017-2019. The registry was conducted in 60 centers in Colombia. All-cause mortality was the principal outcome. To evaluate the impact of health insurance on mortality, a Cox proportional hazards regression model was used. The Kaplan-Meier analysis was performed to compare survival probabilities according to insurance type. All statistical analyses were two-tailed and were considered significant with a p value < 0.05. Of the 2,528 participants enrolled in the registry, 99% held details about their health insurance. Of those, 897 patients (35.6%) were covered by public insurance. These patients were significantly younger, with a lower proportion of men, more frequently from rural origin, and lower prevalence of most comorbidities (omitting hypertension, chronic obstructive pulmonary disease (COPD), and Chagas disease) than those with private insurance. Furthermore, patients with public insurance had a worse functional class, as well as a poorer quality of life, and lower frequency of use of implantable devices, while exhibiting similar prescription rates of triple medical therapy for HF. Finally, no differences in short-term mortality were observed between the two groups (HR 1.09; 95% CI 0.79, 1.51). The type of health insurance represents a condition related with relevant differences in the profile of patients with HF in Colombia. Despite this, no significant differences were detected in the short-term prognosis of these patients based on the type of health insurance.

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Routine screening of organ donors to detect human immunodeficiency virus (HIV) infection has detected the rare transmission of the virus through organ transplantation. However, despite routine screening, HIV transmission remains a risk in organ transplantation since, unlike tissues, solid organs cannot be processed, disinfected, or modified to inactivate infectious pathogens. A case of possible transmission of HIV by organ transplant is described below, from a previously seronegative donor to two recipients.

El examen de rutina de los donantes de órganos para detectar la infección por el virus de la inmunodeficiencia humana (HIV) ha hecho que la transmisión del virus mediante el trasplante de órganos sea poco común. Sin embargo, a pesar de las pruebas de detección de rutina, la transmisión del HIV continúa siendo un riesgo del trasplante de órganos ya que, a diferencia de los tejidos, los órganos sólidos no se pueden procesar, desinfectar, ni modificar para inactivar patógenos infecciosos. A continuación, se describe un caso de posible transmisión de HIV por trasplante de órganos de un donante previamente seronegativo a dos de sus receptores.

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In this study, Cu2O nanoparticles were synthesized using the sol-gel technique and subsequently functionalized with extracts from plants of the Rauvolfioideae subfamily and citrus fruits. Comprehensive characterization techniques, including UV-Vis spectroscopy, FT-IR, XRD, BET, SEM, and TEM, were employed to evaluate the structural and surface properties of the synthesized nanoparticles. The results demonstrated that both functionalized Cu2O nanoparticles exhibit mesoporous structures, as confirmed by nitrogen adsorption-desorption isotherms and the pore size distribution analysis. The green extract functionalized nanoparticles displayed a more uniform pore size distribution compared to those functionalized with the orange extract. The study underscores the potential of these functionalized Cu2O nanoparticles for applications in drug delivery, catalysis, and adsorption processes, highlighting the influence of the functionalization method on their textural properties and performance in antibacterial efficacy.

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Introducción: La arteritis de Takayasu (TAK) es una enfermedad idiopática granulomatosa de grandes vasos que afecta predominantemente a la aorta, ramas arteriales principales y pulmonares. La prevalencia es mayor en adultos que en niños, con una incidencia de 1,1 por millón de personas. Su etiología sigue siendo poco conocida. Caso Clínico: Se presenta el caso de un paciente pediátrico con pérdida de la masa renal izquierda por disminución del calibre de arteria renal ipsilateral meses después del debut de la Arteritis de Takayasu como aneurisma de aorta abdominal. El paciente cumple criterios de TAK según clasificación EULAR/PRINTO/PReS basados en anomalía angiográfica, hipertensión arterial y elevación reactantes de fase aguda. La TAK presenta afectación sistémica y alteraciones cardiovasculares (75-85%), hipertensión en más del 80% de los casos, con estenosis de la arteria renal en casi el 50% de los pacientes. Conclusiones: El tratamiento general de la TAK está dirigido a controlar la inflamación vascular y prevenir el daño orgánico irreversible. A pesar de un diagnóstico temprano con tratamiento oportuno y agresivo el seguimiento en la enfermedad de Takayasu es imprescindible dado que la progresión de esta puede seguirse dando. Deben establecerse estrategias para asegurar la adherencia al seguimiento. (provided by Infomedic Intl.)

Introduction: Takayasu's arteritis (TAK) is an idiopathic granulomatous large vessel disease predominantly affecting the aorta, main arterial branches and pulmonary arteries. The prevalence is higher in adults than in children, with an incidence of 1.1 per million people. Its etiology remains poorly understood. Case Report: We present the case of a pediatric patient with loss of left renal mass due to decreased ipsilateral renal artery caliber months after the debut of Takayasu's arteritis as abdominal aortic aneurysm. The patient meets TAK criteria according to EULAR/PRINTO/PReS classification based on angiographic abnormality, arterial hypertension and elevated acute phase reactants. TAK presents systemic involvement and cardiovascular alterations (75-85%), hypertension in more than 80% of cases, with renal artery stenosis in almost 50% of patients. Conclusions: The general treatment of TAK is aimed at controlling vascular inflammation and preventing irreversible organ damage. Despite early diagnosis with timely and aggressive treatment, follow-up in Takayasu's disease is imperative as progression may still occur. Strategies should be established to ensure adherence to follow-up. (provided by Infomedic Intl.)

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Introducción: La acidosis tubular renal (ATR) incluye una clínica diversa que depende del sitio anatómico en el que se encuentre la alteración tubular, diferenciándose cuatro tipos de ATR. La acidosis tubular renal distal (ATRd) o Tipo I es una condición clínica poco frecuente (1:100.000 niños) que es debida a causas primarias o genéticas; en los niños con frecuencia se han encontrado alterados los genes ATP6V0A4 y ATP6V1B1 en forma homocigota, lo que causa una disfunción de la bomba ATPasa de H+ de las membranas apicales en el túbulo distal generando una inadecuada secreción de hidrogeniones traduciéndose en acidosis metabólica hiperclorémica persistente, con trastornos hidroelectrolíticos que pueden generar alteraciones en el metabolismo óseo, alteraciones renales, gastrointestinales y falla para crecer. Conclusión: El diagnóstico oportuno, seguimiento y tratamiento adecuados pueden evitar las complicaciones y permitir un adecuado crecimiento durante la infancia. (provisto por Infomedic International)

Introduction: Renal tubular acidosis (RTA) includes a diverse clinic that depends on the anatomical site where the tubular alteration is located, with four types of RTA being differentiated. Distal renal tubular acidosis (dRTA) or Type I is a rare clinical condition (1:100,000 children) that is due to the presence of a tubular disorder. It is due to primary or genetic causes; In children, the ATP6V0A4 and ATP6V1B1 genes have frequently been found to be homozygously altered, which causes dysfunction of the H+ ATPase pump of the apical membranes in the distal tubule generating an inadequate secretion of hydrogenions resulting in persistent hyperchloremic metabolic acidosis, with hydroelectrolytic disorders that can generate alterations in bone metabolism, renal and gastrointestinal alterations, and failure to grow. Conclusion: Timely diagnosis, adequate follow-up and treatment can avoid complications and allow adequate growth during childhood. (provided by Infomedic International)

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Introduction: Nephroblastoma, or Wilms' tumor, is a malignant renal neoplasm commonly found in children, is extremely rare in adults representing only 0.5% of all renal neoplasms. Adult Wilms tumor is rare, to our knowledge fewer than 300 cases have been reported in the English literature to date. However, in older adults after 60 years of age, only less than 45 cases have been reported. For this reason, treatment guidelines in adults still are lacking. Prognosis in nephroblastoma for adult patients is found to be worse than in children. Case Presentation: We report the case of a 65-year-old female with lumbar fossa mass, flank pain and hematuria, and pathologic diagnosis of Wilms tumor. We performed nephrectomy. No adjuvant treatment was given. Our patient remains asymptomatic and without evidence of recurrence 12 months after the surgery. Conclusion: Nephroblastoma in the elderly presents different clinical behavior and prognosis compared to nephroblastoma in children.

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In 2018, an outbreak of human rabies caused by the hematophagous bat Desmodus rotundus hit the Brazilian Amazon Basin community of Melgaço, Brazil, resulting in the death of 10 people, 9 of them children. The incidence of rabies has been on the rise among populations in conditions of vulnerability in this ecosystem due to human expansion into sylvatic environments and limited access to public health services. To address this issue, in September 2019, a collaborative effort from national, local, and international institutions promoted and executed a pilot for pre-exposure prophylaxis of a population in high-risk areas for hematophagous bat-mediated rabies. This measure is usually only implemented in response to outbreaks. The pilot was conducted in Portel, in a nearby location to the previous outbreak, with the use of fluvial transportation, and 2987 individuals in 411 dwellings were successfully vaccinated. It established a methodology for pre-exposure prophylaxis for populations in conditions of vulnerability, identifying logistics and costs, as well as characterizing the target riverine population regarding risk factors associated with bites by hematophagous bats. This approach offers a proactive measure to prevent future outbreaks and provides valuable insights into how to address the issue of rabies in remote and difficult-to-reach areas.

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CONTEXT: The Global Atlas of Palliative Care (GAPC) ranked Mexico's palliative care services at a preliminary integration stage into mainstream healthcare services. However, this data does not reflect pediatric palliative care (PPC) development. OBJECTIVES: To analyze the current need and level of development of PPC within Mexico. METHODS: PPC need was estimated using causes of death associated with serious health-related suffering from national mortality data from the General Directorate of Health Information. The level of development was measured through six indicators involving access to PPC services and opioids, then classified using the GAPC development categories adapted to regional territories based on available data. RESULTS: In 2021, 37,444 children died in Mexico. Of those, 10,677 (28.29%) died from conditions with serious health-related suffering, averaging a need for PPC of 25/100,000 children. Out of Mexico's 32 states, two (6.2%) had no PPC activity (category 1), twenty (62.6%) were in a capacity-building phase (category 2), eight (25%) had isolated PPC provision (category 3a), while two (6.2%) had generalized PPC provision (category 3b). No state had early (category 4a) or advanced PPC integration (category 4b). Overall, Mexico was classified as category 2. CONCLUSIONS: PPC services are distributed unevenly across the country, leading to inequitable access to care and an inability to meet the needs of patients and families. There is a disparity between the level of development of adult palliative care services and the underdevelopment of PPC in Mexico. This information can help stakeholders guide the development of PPC where it is needed most.

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INTRODUCTION: Heart failure and type 2 diabetes mellitus are critical public health issues. OBJECTIVE: To characterize the risk factors for mortality in patients with heart failure and type 2 diabetes mellitus from a large registry in Colombia and to evaluate the potential effect modifications by type 2 diabetes mellitus over other risk factors. MATERIALS AND METHODS: Heart failure patients with and without type 2 diabetes mellitus enrolled in the Registro Colombiano de Falla Cardíaca (RECOLFACA) were included. RECOLFACA enrolled adult patients with heart failure diagnosis from 60 medical centers in Colombia during 2017-2019. The primary outcome was all-cause mortality. Survival analysis was performed using adjusted Cox proportional hazard models. RESULTS: A total of 2514 patients were included, and the prevalence of type 2 diabetes mellitus was 24.7% (n = 620). We found seven independent predictors of short-term mortality for the general cohort, chronic obstructive pulmonary disease, sinus rhythm, triple therapy, nitrates use, statins use, anemia, and hyperkalemia. In the type 2 diabetes mellitus group, only the left ventricle diastolic diameter was an independent mortality predictor (HR = 0.96; 95% CI: 0.93-0.98). There was no evidence of effect modification by type 2 diabetes mellitus on the relationship between any independent predictors and all-cause mortality. However, a significant effect modification by type 2 diabetes mellitus between smoking and mortality was observed. CONCLUSIONS: Patients with type 2 diabetes mellitus had higher mortality risk. Our results also suggest that type 2 diabetes mellitus diagnosis does not modify the effect of the independent risk factors for mortality in heart failure evaluated. However, type 2 diabetes mellitus significantly modify the risk relation between mortality and smoking in patients with heart failure.

Introducción. La insuficiencia cardíaca y la diabetes mellitus de tipo 2 son problemas críticos de salud pública. Objetivo. Caracterizar los factores de riesgo de mortalidad en pacientes con insuficiencia cardíaca y la diabetes mellitus de tipo 2 de un registro grande en Colombia y evaluar las posibles modificaciones del efecto de la diabetes mellitus de tipo 2 sobre otros factores de riesgo. Materiales y métodos. Se incluyeron pacientes con insuficiencia cardíaca con y sin diabetes mellitus de tipo 2, inscritos en el Registro Colombiano de Insuficiencia Cardíaca (RECOLFACA). RECOLFACA incorporó pacientes adultos con diagnóstico de insuficiencia cardíaca de 60 centros médicos de Colombia durante 2017-2019. El resultado primario fue la mortalidad por todas las causas. El análisis de supervivencia se realizó utilizando modelos ajustados de riesgos proporcionales de Cox. Resultados. Se incluyeron 2.514 pacientes, la prevalencia de diabetes mellitus de tipo 2 fue del 24,7 % (n = 620). Encontramos siete predictores independientes de mortalidad a corto plazo para la enfermedad pulmonar obstructiva crónica del grupo sin diabetes mellitus de tipo 2, el ritmo sinusal, la terapia triple, el uso de nitratos, el uso de estatinas, la anemia y la hiperpotasemia. En el grupo de diabetes mellitus de tipo 2, solo el diámetro diastólico del ventrículo izquierdo fue un predictor de mortalidad independiente (HR = 0,96; IC95 %: 0,93 - 0,98). No hubo evidencia de modificación del efecto de la diabetes mellitus de tipo 2 sobre la relación entre ningún predictor independiente y la mortalidad por todas las causas. Sin embargo, se observó una modificación significativa del efecto de la diabetes mellitus de tipo 2 entre el tabaquismo y la mortalidad. Conclusiones. Los pacientes con diabetes mellitus de tipo 2 tuvieron mayor riesgo de mortalidad. Los resultados también sugieren que el diagnóstico de diabetes mellitus de tipo 2 no modifica el efecto de los factores de riesgo independientes de mortalidad en IC evaluados. Sin embargo, la diabetes mellitus de tipo 2 modifica significativamente la relación de riesgo entre mortalidad y tabaquismo en pacientes con insuficiencia cardíaca, posiblemente debido a un efecto sinérgico negativo que resulta en lesión vascular.

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Introduction: Sick building syndrome (SBS) refers to non-specific complaints, including upper-respiratory irritative symptoms, headaches, fatigue, and rash, which are usually associated with a particular building by their temporal pattern of occurrence and clustering among inhabitants or colleagues. The aim of the study was to determine the association between the clinical manifestations of sick building syndrome with outdoor pollutants and airborne pollen. Methods: It was a descriptive and prospective observational study conducted from November 2021 to April 2022. It included subjects over 18 years old who completed an online survey on sick building syndrome (general symptoms, nasal, ocular, oropharyngeal, and skin symptoms) presented at home, housing information and personal history. The APS-330 from Pollen Sense ® was used to obtain data on pollen in the air and the local pollution monitoring system (SIMA) to obtain information regarding pollutants. For statistical analysis, SPSS version 16 was used. Results: A total of 402 surveys were included; 91% of the subjects reported having at least 1 symptom. Females presented more general symptoms (fatigue and headache) than males. Subjects with a personal history of atopy showed a higher prevalence of practically all symptoms. Airborne pollen exposure was positively associated with mucosal symptoms in eyes and nose. Outdoor fungi spore exposure was positively associated with oculo-nasal and cutaneous symptoms in the scalp. Conclusion: This study found significant associations with female gender and a history of atopy, which suggests a higher risk for these subjects. Despite the limitations of the study, we can conclude that there is an association between the clinical manifestations of sick building syndrome with indoor and outdoor pollution.

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Resumen Introducción: La polifarmacia inapropiada en adultos mayores con demencia es un problema de salud pública global. En este artículo se describen las indicaciones y se dan pautas para la deprescripción de potenciadores cognitivos (inhibidores de acetilcolinesterasa y memantina) y psicofármacos en pacientes con demencia. Materiales y métodos: Esta es una revisión narrativa a partir del estado del arte sobre la deprescripción en el anciano con demencia. Resultados: La deprescripción no significa limitar esfuerzos terapéuticos, por el contrario, consiste en una estrategia de prevención cuaternaria para reducir el riesgo de reacciones adversas e identificar escenarios donde el beneficio clínico es marginal. Para esto, es necesario rastrear activamente a pacientes con demencia con indicación de deprescripción (falta de respuesta clínica adecuada, desaparición del beneficio con el uso prolongado, estadio de demencia grave o fase terminal). Discusión: Los procesos de deprescripción varían según el grupo farmacológico e incluyen disminuciones progresivas de la medicación, así como el seguimiento y la monitorización para evitar el empeoramiento clínico. Se requiere de programas de educación médica en deprescripción para estudiantes y profesionales en ejercicio, especialmente en servicios de atención primaria en áreas rurales o dispersas, lo cual configura un llamado urgente a la neurología, la psiquiatría y la geriatría. Conclusión: El proceso de deprescripción en el paciente con demencia puede implementarse bajo criterios específicos y de una forma organizada.

Abstract Introduction: Inappropriate polypharmacy in older adults with dementia is a global public health problem. This article describes the indications and gives guidelines for the deprescription of cognitive enhancers (acetylcholinesterase inhibitors and memantine), and psychotropic drugs in patients with dementia. Materials and methods: This is a narrative review article based on the state of the art on deprescribing in the elderly with dementia. Results: Deprescribing does not mean limiting therapeutic efforts; on the contrary, it consists of a quaternary prevention strategy to reduce the risk of adverse reactions and identify scenarios where the clinical benefit is marginal. For this, it is necessary to actively track patients with dementia with an indication for deprescription (lack of adequate clinical response, disappearance of benefit with prolonged use, severe dementia, or palliative phase). Discussion: Deprescribing processes vary depending on the pharmacological group and include progressive reductions in medication, as well as follow-up and monitoring to avoid clinical worsening. Medical education programs in deprescribing are required for students and practicing professionals, especially in primary care services in rural or dispersed areas, which constitutes an urgent call for neurology, psychiatry, and geriatrics. Conclusion: The deprescription process in patients with dementia can be implemented under specific criteria and in an organized manner.

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Resumen La mucormicosis es una enfermedad con un elevado porcentaje de mortalidad. Esta enfermedad oportunista, es causada por patógenos de la familia Zygomicota del orden de los mucorales, los cuales afectan de manera considerable, pricipalmente a los pacientes inmunocomprometidos. Presentamos el caso de un paciente abordado en el Hospital Central Militar de México, diagnosticado con mucormicosis rino-órbito-cerebral, con reporte histopatológico de hifas hialinas no septadas de 90 º, referentes al diagnóstico previamente mencionado. Se realizó un abordaje multidisciplinario de la patología con diagnóstico, tratamiento médico y quirúrgico oportuno, logrando una evolución y pronóstico favorable en un padecimiento cuyo desenlace suele ser fatal.

Abstract Mucormycosis is a disease with a high percentage of mortality. This opportunistic disease is caused by pathogens of the Zygomicota family of the order Mucorales, which affect considerably, mainly immunocompromised patients. We present the case of a patient approached at the Hospital Central Militar de México, diagnosed with rhino-orbito-cerebral mucormycosis, with histopathological report of non-septated hyaline hyphae of 90 º, referring to the aforementioned diagnosis. A multidisciplinary approach to the pathology was carried out with diagnosis, timely medical and surgical treatment, achieving a favorable evolution and prognosis in a condition whose outcome is usually fatal.

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Exome and genome sequencing (ES/GS) are routinely used for the diagnosis of genetic diseases in developed countries. However, their implementation is limited in countries from Latin America. We aimed to describe the results of GS in patients with suspected rare genetic diseases in Colombia. We studied 501 patients from 22 healthcare sites from January to December 2022. GS was performed in the index cases using dried blood spots on filtercards. Ancestry analysis was performed under iAdmix. Multiomic testing was performed when needed (biomarker, enzymatic activity, RNA-seq). All tests were performed at an accredited genetic laboratory. Ethnicity prediction data confirmed that 401 patients (80%) were mainly of Amerindian origin. A genetic diagnosis was established for 142 patients with a 28.3% diagnostic yield. The highest diagnostic yield was achieved for pathologies with a metabolic component and syndromic disorders (p < 0.001). Young children had a median of 1 year of diagnostic odyssey, while the median time for adults was significantly longer (15 years). Patients with genetic syndromes have spent more than 75% of their life without a diagnosis, while for patients with neurologic and neuromuscular diseases, the time of the diagnostic odyssey tended to decrease with age. Previous testing, specifically karyotyping or chromosomal microarray were significantly associated with a longer time to reach a definitive diagnosis (p < 0.01). Furthermore, one out of five patients that had an ES before could be diagnosed by GS. The Colombian genome project is the first Latin American study reporting the experience of systematic use of diagnostic GS in rare diseases.

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Spontaneous intracerebral hemorrhage carries high mortality and disability rates and usually affects deep brain structures. We have implemented a self-designed low-cost 3D-printed illuminated endoport for the surgical drainage of a deep spontaneous intracerebral hemorrhage in a patient who arrived with right hemiparesis and a GCS score of 10. A minimally invasive approach was made and our patient had a favorable functional outcome after surgery. Carrying out this approach with a low-cost 3D-printed endoport makes it possible to offer a safe and efficient treatment option to a low-income country population.

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Pragmatic trials aim to assess intervention efficacy in usual patient care settings, contrasting with explanatory trials conducted under controlled conditions. In aging research, pragmatic trials are important designs for obtaining real-world evidence in elderly populations, which are often underrepresented in trials. In this review, we discuss statistical considerations from a frequentist approach for the design and analysis of pragmatic trials. When choosing the dependent variable, it is essential to use an outcome that is highly relevant to usual medical care while also providing sufficient statistical power. Besides traditionally used binary outcomes, ordinal outcomes can provide pragmatic answers with gains in statistical power. Cluster randomization requires careful consideration of sample size calculation and analysis methods, especially regarding missing data and outcome variables. Mixed effects models and generalized estimating equations (GEEs) are recommended for analysis to account for center effects, with tools available for sample size estimation. Multi-arm studies pose challenges in sample size calculation, requiring adjustment for design effects and consideration of multiple comparison correction methods. Secondary analyses are common but require caution due to the risk of reduced statistical power and false-discovery rates. Safety data collection methods should balance pragmatism and data quality. Overall, understanding statistical considerations is crucial for designing rigorous pragmatic trials that evaluate interventions in elderly populations under real-world conditions. In conclusion, this review focuses on various statistical topics of interest to those designing a pragmatic clinical trial, with consideration of aspects of relevance in the aging research field.

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There is a growing market for craft beverages with unique flavors. This study aimed to obtain a palate-pleasing mead derived from Pichia kudriavzevii 4A as a monoculture. Different culture media were evaluated to compare the fermentation kinetics and final products. The crucial factors in the medium were ~200 mg L-1 of yeast assimilable nitrogen and a pH of 3.5-5.0. A panel of judges favored the mead derived from Pichia kudriavzevii 4A (fermented in a medium with honey initially at 23 °Bx) over a commercial sample produced from Saccharomyces cerevisiae, considering its appearance, fruity and floral flavors (provided by esters, aldehydes, and higher alcohols), and balance between sweetness (given by the 82.91 g L-1 of residual sugars) and alcohol. The present mead had an 8.57% v/v ethanol concentration, was elaborated in 28 days, and reached a maximum biomass growth (2.40 g L-1) on the same fermentation day (6) that the minimum level of pH was reached. The biomass growth yield peaked at 24 and 48 h (~0.049 g g-1), while the ethanol yield peaked at 24 h (1.525 ± 0.332 g g-1), in both cases declining thereafter. The Gompertz model adequately describes the kinetics of sugar consumption and the generation of yeast biomass and ethanol. Pathogenic microorganisms, methanol, lead, and arsenic were absent in the mead. Thus, Pichia kudriavzevii 4A produced a safe and quality mead with probable consumer acceptance.