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OBJECTIVE: Neonates with moderate-to-severe perinatal asphyxia often develop acute kidney injury (AKI). Additionally, therapeutic hypothermia (TH) can affect renal blood flow. This study aimed to evaluate the association between renal regional oxygen saturation (rSrO2) during TH and AKI in neonates with moderate and severe perinatal asphyxia. STUDY DESIGN: This retrospective longitudinal study included neonates with moderate-to-severe asphyxia who required TH. The primary outcome was the occurrence of AKI, classified as a rate of decrease in creatinine levels of <33% at 72 hours of TH. rSrO2 was continuously monitored by near-infrared spectroscopy during the hypothermia and rewarming phases. Data analysis involved dividing the average rSrO2 levels into 12-hour periods. We analyzed the association between AKI and rSrO2 levels using univariate and multivariate logistic regression models. Furthermore, we assessed the predictive capacity of rSrO2 for AKI by analyzing the area under the receiver operating characteristic curve. RESULTS: Ninety-one patients were included in the study. On average, patients with AKI exhibit lower rSrO2 levels during TH. Specifically, rSrO2 levels within the first 12 hours and between 25 and 72 hours of TH demonstrated the highest predictive capability for AKI. Multivariate logistic regression analysis revealed that rSrO2 levels within the initial 12 hours (adjusted odds ratio [aOR] = 1.11, 95% confidence interval [CI]: 1.01-1.21) and between 61 and 72 hours (aOR = 0.85, 95% CI: 0.78-0.92) were significantly associated with AKI. CONCLUSION: An increase in rSrO2 during the first 12 hours of TH and lower rSrO2 levels between 61 and 72 hours of treatment were associated with the development of AKI in asphyxiated neonates undergoing TH. KEY POINTS: · Neonates with asphyxia often develop AKI.. · Renal saturations are affected by hypothermia and asphyxia. · Patients with AKI initially show higher rSrO2, then lower rSrO2.. · Monitoring rSrO2 identifies early AKI..

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Background: For a medication dispensing service to function with quality, continuous evaluation is required, which is why it is necessary to have reliable measurement tools that make it possible. Quality indicators can serve as tools for managing quality, as they are variables that directly or indirectly measure changes in a situation and help evaluate the progress made in addressing it. This article aims to determine the feasibility and reliability of a quality indicator system for a drug dispensing service for paediatric outpatients in two Mexican hospitals. Methods: A study of the development type of health systems and services at a microlevel was conducted from October 2020 to October 2021 in the pharmaceutical service of two Mexican hospitals. To determine the feasibility of the quality indicators, a retrospective evaluation was performed, which considered the indicators that could be calculated with the available information to be feasible. To determine reliability, an inter-observer agreement study (Kappa (κ)) was performed. Results: The feasibility analysis revealed that all five reference indicators related to the structure were feasible in both hospitals. In the Infantil of the Californias hospital, all six process indicators evaluated were feasible, whilst only one was found feasible in H+ Querétaro. As for outcome indicators, only one was feasible in the Infantil of the Californias hospital. The causes of non-feasibility in both hospitals were the non-documentation of the primary data related to the stages of the process and the lack of instruments to measure patient satisfaction. The reliability of the indicators showed little variability. Conclusion: Although not all indicators were feasible, solutions were proposed so that the 15 reference indicators could be used if an organization decided to do so. The reliability of the indicators was demonstrated, evidencing the importance of the data sheet as a tool to generate valid reliable measures.This article is part of the Hospital pharmacy, rational use of medicines and patient safety in Latin America Special Issue: https://www.drugsincontext.com/special_issues/hospital-pharmacy-rational-use-of-medicines-and-patient-safety-in-latin-america/.

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Water, sanitation, and hygiene (WASH) services in schools are essential to reduce infectious disease transmission, including that of COVID-19. This study aimed to establish a baseline of WASH services in six public elementary schools in Guatemala, with a focus on hand hygiene. We used the WHO/UNICEF Joint Monitoring Programme (JMP) report indicators to assess the WASH infrastructure at each school. We collected water samples from easily accessible water points (pilas, or bathroom sinks) at each school to test for the presence of total coliforms and E. coli. In-depth interviews were carried out with teachers to understand hand hygiene practices and systems at school. Results indicate that all schools had water available at the time of the survey. All water samples at four schools tested positive for total coliforms and at one school, positive for E. coli. All schools had sanitation facilities, but services were limited. Only 43% of handwashing stations at schools had soap available. No school had disability-inclusive WASH services. Financial constraints and a lack of appropriate WASH infrastructure were the main barriers reported by teachers to meet hand hygiene needs at school. Appropriate access to WASH infrastructure and supplies could increase hand hygiene practices and improve learning conditions for students.

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Introduction. There is growing consensus globally that the consumption of ultra- processed food (UPF) can negatively affect the nutritional status of children. Objective. The present study aims to evaluate associations between the consumption of UPF and the nutritional status in a sample of Uruguayan and Brazilian preschoolers belonging to two studies: the ENDIS Study and the Pelotas 2015 Birth Cohort. Materials and methods. We conducted a cross-sectional analysis. The main outcome measure was obesity defined as BMI for age and sex ≥ +3 z-scores. The score of UPF consumption was the main exposure measured. Each positive answer of habitual intake was added up to create a UPF score ranging from zero to six or more UPF. Crude and adjusted logistic regressions were performed for the associations between UPF consumption and nutritional status in preschoolers. Results. The final sample consisted of 8,687 preschool children, 50.8% belonging to the Uruguayan study, while the remaining 49.2% belonged to the Brazilian study. Nearly 5% of the sample of young children were obese. We didn't observe a relationship between the score of UPF consumption and obesity, the odds ratio (OR) was 1.04 (95% CI, 1.00­1.09). Adjustments resulted in modest attenuation of the relationship and a lack of statistical significance. However, in children under 48 months, the score of UPF consumption was directly associated with childhood obesity. Conclusions. Results suggest that higher consumption of UPF is associated with obesity in Uruguayan and Brazilian preschool children under 4 years of age. These findings suggest that actions to reduce ultra- processed food consumption could lead to diminish obesity patterns and bring important public health benefits(AU)

Introducción. Existe creciente consenso a nivel mundial de que el consumo de alimentos ultraprocesados puede afectar negativamente el estado nutricional de los niños. Objetivo. El presente estudio tiene como objetivo evaluar asociaciones entre el consumo de ultraprocesados y el estado nutricional en una muestra de preescolares uruguayos y brasileños pertenecientes a dos estudios: el Estudio ENDIS y la Cohorte de Nacimiento de Pelotas 2015. Materiales y métodos. Se realizó un análisis transversal. La principal medida de resultado fue la obesidad definida como el IMC/edad y sexo ≥ +3 puntuaciones z. La puntuación del consumo de ultraprocesados fue la principal exposición. Cada respuesta positiva de la ingesta habitual se sumó para crear una puntuación de ultraprocesados que oscilaba entre cero y seis o más. Se realizaron regresiones logísticas crudas y ajustadas. Resultados. La muestra final estuvo constituida por 8.687 niños, de los cuales el 50,8% pertenecía al estudio uruguayo, mientras que el 49,2% restante pertenecía al estudio brasileño. Casi el 5% de la muestra de niños pequeños eran obesos. No observamos relación entre la puntuación del consumo de ultraprocesados y la obesidad, el odds ratio (OR) fue de 1,04 (IC 95%, 1,00-1,09). Los ajustes dieron lugar a modesta atenuación de la relación y falta de significación estadística. Sin embargo, en menores de 48 meses la puntuación de consumo de ultraprocesados se asoció directamente con la obesidad infantil. Conclusiones. Los resultados sugieren que un mayor consumo de ultraprocesados se asocia con obesidad en prescolares uruguayos y brasileños menores de 4 años. Estos hallazgos sugieren que las acciones para reducir el consumo de alimentos ultraprocesados podrían conducir a una disminución de los patrones de obesidad y traer importantes beneficios para la salud pública(AU)

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BACKGROUND: We estimated the prevalence of colonization with extended-spectrum cephalosporin-resistant Enterobacterales (ESCrE) and carbapenem-resistant Enterobacterales (CRE) from a hospital and associated communities in western Guatemala. METHODS: Randomly selected infants, children, and adults (<1, 1-17, and ≥18 years, respectively) were enrolled from the hospital (n = 641) during the coronavirus disease 2019 (COVID-19) pandemic, March to September 2021. Community participants were enrolled using a 3-stage cluster design between November 2019 and March 2020 (phase 1, n = 381) and between July 2020 and May 2021 (phase 2, with COVID-19 pandemic restrictions, n = 538). Stool samples were streaked onto selective chromogenic agar, and a Vitek 2 instrument was used to verify ESCrE or CRE classification. Prevalence estimates were weighted to account for sampling design. RESULTS: The prevalence of colonization with ESCrE and CRE was higher among hospital patients compared to community participants (ESCrE: 67% vs 46%, P < .01; CRE: 37% vs 1%, P < .01). Hospital ESCrE colonization was higher for adults (72%) compared with children (65%) and infants (60%) (P < .05). Colonization was higher for adults (50%) than children (40%) in the community (P < .05). There was no difference in ESCrE colonization between phase 1 and 2 (45% and 47%, respectively, P > .05), although reported use of antibiotics among households declined (23% and 7%, respectively, P < .001). CONCLUSIONS: While hospitals remain foci for ESCrE and CRE colonization, consistent with the need for infection control programs, community prevalence of ESCrE in this study was high, potentially adding to colonization pressure and transmission in healthcare settings. Better understanding of transmission dynamics and age-related factors is needed.

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Los desafíos en salud mental en Chile son múltiples y complejos. Por ello, la valorización de los recursos existentes permite establecer una línea base para mejorar el acceso, la cobertura y la efectividad de las medidas. El presente artículo tiene por objetivo estimar y analizar el gasto en salud mental realizado en Chile entre 2014 y 2021, abordando tanto la atención no ambulatoria como la ambulatoria. Así, el cálculo de los gastos en atención no ambulatoria para salud mental se obtuvo de la metodología de gasto por enfermedad (11,7% del total). Por otro lado, la estimación en atención ambulatoria para salud mental consideró múltiples fuentes de información por niveles de atención público y privado (56,9%). Adicionalmente, se estimaron los gastos en medicamentos realizados por las personas en el retail (31,4%). El gasto estimado en salud mental público alcanzó los $208 miles de millones, lo que representa un 1,7% del gasto público en salud de Chile el 2021. Asimismo, a nivel privado el gasto en salud mental fue de $332 miles de millones, esto es un 3,4% del gasto privado en salud. Además, se resalta la relevancia de considerar los costos asociados al reposo médico por salud mental que son 2 veces más que el gasto estimado. Se concluye comparando las estimaciones con otros países, mencionando limitaciones por falta de acceso a la información y algunos desafíos. Además, se destaca el problema de acceso a las prestaciones debido al alto porcentaje de copago (66%), y la necesidad de aumentar el presupuesto público destinado a la salud mental.

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Stenotrophomonas maltophilia is an opportunistic pathogen, often associated with nosocomial infections. Ten S. maltophilia were isolated from clinical samples during the period January 2021 and June 2022. Eight (80%) patients had cancer as a background disease and 2 patients had coronavirus disease 2019. A fatal outcome was recorded in 4 cases (40% of patients). All the isolates were susceptible to minocycline and levofloxacin. Trimethoprim/sulfamethoxazole and ceftazidime resistance rates were 20% and 40% respectively. Eight different patterns were observed by Pulsed-Field Gel Electrophoresis, only two isolates being clonally identical. The isolation of S. maltophilia in clinical settings requires the implementation of infection prevention measures.

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Leptospirosis is a zoonotic disease with a high burden in Latin America, including northeastern Argentina, where flooding events linked to El Niño are associated with leptospirosis outbreaks. The aim of this study was to evaluate the value of using hydrometeorological indicators to predict leptospirosis outbreaks in this region. We quantified the effects of El Niño, precipitation, and river height on leptospirosis risk in Santa Fe and Entre Ríos provinces between 2009 and 2020, using a Bayesian modelling framework. Based on several goodness of fit statistics, we selected candidate models using a long-lead El Niño 3.4 index and shorter lead local climate variables. We then tested predictive performance to detect leptospirosis outbreaks using a two-stage early warning approach. Three-month lagged Niño 3.4 index and one-month lagged precipitation and river height were positively associated with an increase in leptospirosis cases in both provinces. El Niño models correctly detected 89% of outbreaks, while short-lead local models gave similar detection rates with a lower number of false positives. Our results show that climatic events are strong drivers of leptospirosis incidence in northeastern Argentina. Therefore, a leptospirosis outbreak prediction tool driven by hydrometeorological indicators could form part of an early warning and response system in the region.

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The presence of crpP was established in 201 Pseudomonas aeruginosa isolates from 9 Peruvian hospitals. The 76.6% (154/201) of the isolates presented the crpP gene. Overall, 123/201 (61.2%) isolates were non-susceptible to ciprofloxacin. The prevalence of crpP-possessing P. aeruginosa in Peru is higher than in other geographical areas.

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Introduction: This study aimed to describe the clinical characteristics of patients with COVID-19 co-infected with multiple multidrug-resistant bacteria. Methods: Patients hospitalized in the AUNA network between January and May 2021, diagnosed with COVID-19 and at least two other infecting microorganisms, were retrospectively included in the analysis. Clinical and epidemiological data were extracted from clinical records. The susceptibility levels of the microorganisms were determined using automated methods. Antibiotic resistance was established among infecting bacteria accounting for ≥5 isolates. Results: A total of 27 patients (21 male and 6 female patients) met the inclusion criteria, with a maximum of eight co-infecting bacteria or fungi during admission time. Seven patients (25.9%) died, with a higher but not significant lethality among women (50% vs. 19.0%). A total of 15 patients presented at least one established comorbidity, with hypertension being the most frequent. The time elapsed between COVID-19 diagnosis and hospital attendance was 7.0 days, with that of patients with a fatal outcome being longer than that of living patients (10.6 vs. 5.4). Up to 20 different microorganisms were isolated, with Pseudomonas aeruginosa being the most common (34 isolates). In general, antibiotic resistance levels were high, especially in Acinetobacter baumannii isolates, with resistance levels of 88.9% to all antimicrobial agents tested, except colistin (0%). Conclusion: In conclusion, the present results show the presence of multiple microorganisms that co-infect COVID-19 patients. When fatal outcome rates are in the range of other reports, the presence of a series of multidrug-resistant microorganisms is of concern, showing the need to reinforce control measures to limit the expansion of almost untreatable microorganisms.

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Introduction: A high prevalence of advanced breast cancer (BC) is a common scenario in Latin America. In Peru, the frequency of BC at Stages III/IV is ≈50% despite implementation of a programme for breast cancer screening (BCS) along the country. We carried out a study to assess the feasibility and develop an instrument to evaluate the knowledge, barriers and perception about BCS in a nationwide pilot study in Peru among candidates for BCS. Methods: We conducted a systematic review of 2,558 reports indexed in PubMed, Scopus, Web of Science, Medline-Ovid and EMBASE, regarding to our study theme. In total, 111 were selected and a 51-items survey was developed (eight items about sociodemographic characteristics). Patients were recruited in public hospitals or private clinics, in rural and urban areas of nine departments of Peru. Results: We surveyed 488 women from: Lima (150), Cajamarca (93), Ica (59), Arequipa (56), Loreto (48), Ancash (38), Junín (15), Puerto Maldonado (15) and Huancavelica (14); 27.9% of them were from rural areas. The mean of age was 53.3 years (standard deviation ± 9.1). Regarding education level, 29.8% had primary, 33.2% secondary and 37.0% higher education. In total, 28.7% of women did not know the term 'mammogram' and 47.1% reported never receiving a BCS (36.9% from urban and 73.5% from rural population). In women that underwent BCS, only 67% knew it is for healthy women. In total, 54.1% of patients had low levels of knowledge about risk factors for BC (i.e. 87.5% of women respond that injuries in the breast produce cancer). Cultural, economic and geographic barriers were significantly associated with having a mammogram where 56.9% of participants considered a cost ≤ 7 USD as appropriate. Mammogram was perceived as too painful for 54.9% of women. In addition, women with a self-perception of low-risk for BC and a fatalistic perception of cancer were less likely to have a BCS. Conclusion: We found that it is feasible to conduct a large-scale study in Peru. The results of this pilot study highlight an urgent need of extensive education and awareness about BCS in Peru.

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The flavanol (-)-epicatechin has exercise-mimetic properties. Besides, several miRNAs play a role in modulating the adaptation of the muscle to different training protocols. However, notwithstanding all information, few studies aimed to determine if (-)-epicatechin can modify the expression of miRNAs related to skeletal muscle development and regeneration. Mice were treated for fifteen days by oral gavage with the flavanol (-)-epicatechin. After treatment, the quadriceps of the mice was dissected, and total RNA was extracted. The expression level of miR-133, -204, -206, -223, -486, and -491 was analyzed by qRT-PCR. We also used bioinformatic analysis to predict the participation of these miRNAs in different skeletal muscle signal transduction pathways. Additionally, we analyzed the level of the myogenic proteins MyoD and myogenin by Western blot and measured the cross-sectional area of muscle fibers stained with E&H. (-)-Epicatechin upregulated the expression of miR-133, -204, -206, -223, and -491 significantly, which was associated with an increase in the level of the myogenic proteins MyoD and Myogenin and an augment in the fiber size. The bioinformatics analysis showed that the studied miRNAs might participate in different signal transduction pathways related to muscle development and adaptation. Our results showed that (-)-epicatechin upregulated miRNAs that participate in skeletal exercise muscle adaptation, induced muscle hypertrophy, and increased the level of myogenic proteins MyoD and MyoG.

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Introduction: In Peru, on 11 February 2023, the Ministry of Health registered 4 million patients infected with COVID-19 and around 219,260 deaths. In 2020, the SARS-CoV-2 virus was acquiring mutations that impacted the properties of transmissibility, infectivity, and immune evasion, leading to new lineages. In the present study, the frequency of COVID-19 variants was determined during 2021 and 2022 in patients treated in the AUNA healthcare network. Methods: The methodology used to detect mutations and identify variants was the Allplex™ SARS-CoV-2 Variants Assay I, II, and VII kit RT-PCR. The frequency of variants was presented by epidemiological weeks. Results: In total, 544 positive samples were evaluated, where the Delta, Omicron, and Gamma variants were identified. The Delta variant was found in 242 (44.5%) patients between epidemiological weeks 39 and 52 in 2021. In the case of Gamma, it was observed in 8 (1.5%) patients at weeks 39, 41, 43, 45, and 46 of 2021. The Omicron variant was the most frequent with 289 (53.1%) patients during weeks 49 to 52 of 2021 and 1 to 22 of 2022. During weeks 1 through 22 of 2022, it was possible to discriminate between BA. 1 (n = 32) and BA.2 (n = 82). Conclusion: The rapid identification of COVID-19 variants through the RT-PCR methodology contributes to timely epidemiological surveillance, as well as appropriate patient management.

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Introducción: La educación médica ha propiciado estrategias de enseñanza-aprendizaje que integran nuevas actividades pedagógicas y evaluativas acordes con el avance en el conocimiento. Los juegos educacionales (JE) surgen como una opción en pro del mejoramiento en los objetivos y resultados educacionales, con una utilidad potencial dentro del proceso formativo de los cirujanos. Hay investigaciones crecientes sobre el tema. Objetivo: evaluar de forma cualitativa el estado de la evidencia disponible sobre la efectividad de los JE como estrategia pedagógica en estudiantes de postgrado de cirugía general. Método: revisión de alcance de la literatura, según la metodología del Joanna Briggs Institute. Se evaluó el impacto educacional de los JE según la clasificación de Kirkpatrick. Resultados: la evidencia acerca de la utilidad los JE en la educación médica en cirugía es limitada. Existe una heterogeneidad de metodologías, procesos y resultados educativos producto de implementar JE como instrumento de evaluación o de instrucción. No obstante, es posible un impacto positivo de acuerdo con las investigaciones. No hay una evaluación de los alcances y el rol de los JE en la formación de los cirujanos. Conclusión: los JE se constituyen en una estrategia novedosa a considerar en la educación en cirugía general. Su implementación se condiciona a la construcción de una evidencia sólida, reproducible y basada en objetivos claros de enseñanza-aprendizaje. Sin embargo, la investigación en el tema es incipiente.

Summary Background: Medical education has fostered teaching-learning strategies that integrate new pedagogical and evaluative activities in accordance with the advancement in knowledge. Educational games (EG) emerge as an option for improving educational objectives and results, with potential utility within the training process of surgeons. There is growing research on the subject. Objective: To qualitatively evaluate the state of the available evidence on the efficacy of EG as a pedagogical strategy in general surgery postgraduate students. Method: Scoping review of the literature, according to the methodology of the Joanna Briggs Institute. The educational impact of the EG was evaluated according to the Kirkpatrick classification. Results: Evidence about the usefulness of EGs in medical education in surgery is limited. There is a heterogeneity of methodologies, processes and educational results resulting from implementing EG as an evaluation or instructional instrument. However, a positive impact is possible according to research. There is no evaluation of the scope and role of EBs in the training of surgeons. Conclusions: The EG constitute a novel strategy to consider in general surgery education. Its implementation is conditional on the construction of solid, reproducible evidence based on clear teaching-learning objectives. However, research on the subject is incipient.

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Leptospirosis, the infectious disease caused by a spirochete bacteria, is a major public health problem worldwide. In Argentina, some regions have climatic and geographical characteristics that favor the habitat of bacteria of the Leptospira genus, whose survival strongly depends on climatic factors, enhanced by climate change, which increase the problems associated with people's health. In order to have a method to predict leptospirosis cases, in this paper, five time series forecasting methods are compared: two parametric (autoregressive integrated moving average and an alternative one that allows covariates, ARIMA and ARIMAX, respectively), two nonparametric (Nadaraya-Watson Kernel estimator, one and two kernels versions, NW-1 K and NW-2 K), and one semiparametric (semi-functional partial linear regression, SFPLR) method. For this, the number of cases of leptospirosis registered from 2009 to 2020 in three important cities of northeastern Argentina is used, as well as hydroclimatic covariates related to the presence of cases. According to the obtained results, there is no method that improves considerably the rest and can be recommended as a unique tool for leptospirosis prediction. However, in general, the NW-2 K method gets a better performance. This work, in addition to using a long-term high-quality time series, enriches the area of applications of statistical models to epidemiological leptospirosis data by the incorporation of hydroclimatic variables, and it is recommended directing further efforts in this line of research, under the context of current climate change.

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Self-sampling methods for HPV testing have been demonstrated to be highly sensitive and specific. The implementation of these methods in settings with a lack of infrastructure or medical attention has been shown to increase the coverage of cervical cancer screening and detect cervical abnormalities in the early stages. The aim of this study is to compare the acceptability of urine and vaginal self-sampling methods versus clinician sampling among rural women. A total of 120 women participated. Each participant self-collected urine and vaginal samples and underwent clinician sampling for Pap smear and HPV testing. After the sample collection, a questionnaire to qualify the device, technique, and individual acceptability was applied, and the additional overall preference of three sample tests was evaluated. Results: The characteristics of the participants were as follows: median age of 35 years; 40.8% were married; 46.7% had a primary level of education; median age of sexual onset of 17.6 years. Compared with clinician sampling, both vaginal self-sampling, OR 20.12 (7.67-52.8), and urine sampling, OR 16.63 (6.79-40.72), were more comfortable; granted more privacy: vaginal self-sampling, OR 8.07 (3.44-18.93), and urine sampling, OR 19.5 (5.83-65.21); were less painful: vaginal self-sampling, OR 0.07 (0.03-0.16), and urine sampling, OR 0.01 (0-0.06); were less difficult to apply: vaginal self-sampling, OR 0.16 (0.07-0.34), and urine sampling, OR 0.05 (0.01-0.17). The overall preference has shown an advantage for vaginal self-sampling, OR 4.97 (2.71-9.12). No statistically significant preference was demonstrated with urine self-sampling versus clinician sampling. Conclusions: Self-sampling methods have a high acceptance in rural communities. Doubts on the reliability of self-sampling often appear to be a limitation on its acceptability. However, the training and education of the community could increase the uptake of these methods.

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

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

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OBJECTIVE: Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is the most common enzymatic disease worldwide and the prevalence is not well established because of the lack of screening. This study aimed to estimate the prevalence of G6PDd in a Hispanic population from Northeast Mexico. STUDY DESIGN: In this retrospective study, a database was used to analyze the G6PDd in neonates included in the expanded newborn metabolic screening of inherited metabolic disorders during a period of 4 years through the GSP Neonatal G6 kit (PerkinElmer). RESULTS: Among 96,152 (48,462 male) neonates screened for G6PD enzyme activity, a total of 566 (0.58%) cases were deficient for G6PD. Of those 566 patients, 469 (82.8%) attended the second test and the other 97 (17.2%) patients were lost. Of those 469 who did attend, 384 (81.9%) neonates were deficient in the second test and 85 (18.1%) were normal. With the data collected, 384 neonates were confirmed with G6PDd, 348 (88.6%) were male and 36 (11.4%) patients were female. The calculated prevalence for this population was 0.72 cases per 100 male newborns. CONCLUSION: The prevalence of G6PDd in the Northeastern Mexican population is high. Since migration is increasing in the United States, pediatricians should be aware of the need to search for G6PDd in newborns and the wide clinical manifestations they can present. KEY POINTS: · The calculated prevalence of glucose-6-phosphate dehydrogenase deficiency in Northeast Mexico is 3.99 cases per 1,000 newborns.. · Glucose-6-phosphate dehydrogenase deficiency screenings should be included in all newborn metabolic screenings.. · Glucose-6-phosphate dehydrogenase deficiency is a common erythroenzymopathy that must be addressed as a public health concern. To anticipate clinical complications, target population monitoring is required..