Epidemiological changes of invasive fungal disease in children with cancer: Prospective study of the National Child Program of Antineoplastic Drugs network, Chile.

BACKGROUND: Invasive fungal diseases (IFD) are high morbidity and mortality infections in children with cancer suffering episodes of high-risk febrile neutropenia (HRFN). IFD epidemiology has changed in the last two decades, with an increasing incidence in recent years due to the growing number of immunocompromised children at risk for IFD. The aim of this study was to evaluate the incidence of IFD in children with cancer in the period 2016-2020 compared to 2004-2006 in six hospitals in Chile. METHODS: Prospective, multicentre study, carried out between 2016 and 2020 in six hospitals in Chile. The defined cohort corresponds to a dynamic group of HRFN episodes in patients <18 years old with cancer, who at the fourth day of evolution still presented fever and neutropenia (persistent HRFN). Each episode was followed until resolution of FN. The incidence of IFD was calculated between 2016 and 2020 and compared with data obtained in the period 2004-2006. The incidence rate was estimated. RESULTS: A total of 777 episodes of HRFN were analysed; 257 (33.1%) were considered as persistent-HRFN occurring in 174 patients. The median age was 7 years (IQR: 3-12 years) and 52.3% (N = 91) were male. Fifty-three episodes of IFD were detected: 21 proven, 14 probable and 18 possible. Possible IFD were excluded, leaving 239 episodes of persistent-HRFN with an IFD incidence of 14.6% (95% CI 10.5-19.9) and an incidence rate of 13.6 IFD cases per 1000 days of neutropenia (95% CI 9.5-20.0). Compared to 2004-2006 cohort (incidence: 8.5% (95% CI 5.2-13.5)), a significant increase in incidence of 6.1% (95% CI 0.2-12.1, p = .047) was detected in cohorts between 2016 and 2020. CONCLUSION: We observed a significant increase in IFD in 2016-2020, compared to 2004-2006 period.

Effects of hypopressive exercise associated with aerobic and muscle strength training on the treatment of fatigue, urinary incontinence symptoms, sexual function, and quality of life in women treated for gynecologic cancer: A randomized clinical trial protocol.

Introduction: Therapeutic exercise has an important role in the population living with cancer as it improves function and quality of life and reduces the symptoms of cancer treatment. There is little clinical evidence on the effects of hypopressive exercise in women with gynecological cancer. Objective: Evaluate the effects of 4 weeks of hypopressive exercise associated with muscle strength training and aerobic exercises on fatigue, urinary incontinence symptoms, sexual function, and quality of life in women treated for gynecological cancer compared to a group that will perform conventional training. Methods: This randomized, single-blinded clinical trial study is set in the Clinical Research Laboratory, Department of Kinesiotherapy, at a Chilean University. Patients will be randomly assigned to an experimental group of hypopressive exercises associated with muscle strength training and aerobic exercises or a control group of muscle strength training and aerobic exercises. Twelve tele-rehabilitation sessions will be performed. Women over 18 years of age with gynecologic cancer who have been prescribed radiotherapy or chemotherapy will participate. Fatigue, quality of life, urinary incontinence symptoms, and sexual function will be assessed before and after the intervention. Expected results: The results of this clinical trial have important implications for specific treatment for the cancer population and generate new techniques in the practice of oncology-specialized kinesiologists. Hypopressive exercise is expected to reduce incontinence symptoms due to neuromuscular activation of the pelvic floor muscles. However, more studies are needed to confirm the beneficial effects of hypopressive exercises in face-to-face or remote rehabilitation.

Introducción: El ejercicio terapéutico juega un rol importante en la población con cáncer, ya que mejora la función, la calidad de vida y reduce los síntomas del tratamiento contra el cáncer. Hay poca evidencia clínica sobre los efectos del ejercicio hipopresivo en mujeres con cáncer ginecológico. Objetivo: Evaluar los efectos de cuatro semanas de ejercicio hipopresivo asociado con entrenamiento de fuerza muscular y ejercicios aeróbicos sobre la fatiga, los síntomas de incontinencia urinaria, la función sexual y la calidad de vida en mujeres tratadas por cáncer ginecológico, en comparación con un grupo que realizará entrenamiento convencional. Métodos: El escenario para este estudio de ensayo clínico aleatorizado y simple ciego es el Laboratorio de Investigación Clínica, Departamento de Kinesiología, en una Universidad Chilena. Las pacientes serán asignadas aleatoriamente a un grupo experimental de ejercicios hipopresivos asociados con entrenamiento de fuerza muscular y ejercicios aeróbicos, o a un grupo de control de entrenamiento de fuerza muscular y ejercicios aeróbicos. Se realizarán doce sesiones de telerehabilitación. Participarán mujeres mayores de 18 años con cáncer ginecológico a quienes se les haya indicado radioterapia o quimioterapia. Se evaluarán la fatiga, la calidad de vida, los síntomas de incontinencia urinaria y la función sexual antes y después de la intervención. Resultados: esperados Los resultados de este ensayo clínico tienen importantes implicaciones en términos del tratamiento específico para la población con cáncer y generan nuevas técnicas en la práctica de kinesiólogos especializados en oncología. Se espera que el ejercicio hipopresivo reduzca los síntomas de incontinencia debido a la activación neuromuscular de los músculos del suelo pélvico. Sin embargo, se necesitan más estudios para confirmar los efectos beneficiosos de los ejercicios hipopresivos, ya sea en rehabilitación presencial o a distancia.

Perfil de prescripción de levetiracetam en niños menores de cuatro años atendidos en un hospital de alta complejidad de Chile / Levetiracetam prescription profile in children younger than 4 years treated at a tertiary care hospital in Chile

Introducción. El levetiracetam (LEV) es un antiepiléptico aprobado por el Instituto de Salud Pública de Chile como terapia concomitante en crisis epilépticas en niños mayores de cuatro años. Sin embargo, es ampliamente indicado desde el periodo neonatal, lo que hace necesario evaluar su utilización fuera de ficha técnica. Objetivo. Determinar el perfil de prescripción-indicación de LEV en el tratamiento de las crisis epilépticas en menores de cuatro años en un hospital de alta complejidad del sur de Chile. Población y método. Estudio observacional, descriptivo y retrospectivo. Se revisaron las historias clínicas de quienes iniciaron tratamiento con LEV entre 2014 y 2019, y se recopilaron datos sobre variables sociodemográficas, farmacológicas y clínicas. El análisis se basó en la descripción del perfil de los pacientes, prescripción, seguimiento y seguridad. Resultados. Se incluyeron 68 pacientes: 40 (58,8 %) de sexo masculino, 49 (72,1 %) con edad gestacional ≥ 37 semanas. La etiología principal de la epilepsia fue de tipo estructural (35,3 %); el LEV se utilizó principalmente en niños diagnosticados con malformación del sistema nervioso central (17,6 %) y predominó la monoterapia (55,9 %). En el 50 % se usó LEV para crisis focales. Cinco niños (7,3 %) presentaron trastornos de tipo psiquiátrico clasificados como probables reacciones adversas al medicamento. Conclusión. El LEV se utilizó en niños con diferentes diagnósticos con baja frecuencia de eventos adversos. El perfil de utilización varió en los diferentes grupos etarios. Es necesario identificar en futuros estudios la efectividad especialmente en el recién nacido y en epilepsias refractarias.

Introduction. Levetiracetam (LEV) is an antiepileptic drug approved by the Chilean Institute of Public Health as concomitant therapy for epileptic seizures in children older than 4 years of age. However, it is widely prescribed from the neonatal period, which makes it necessary to evaluate its off-label use. Objective. To determine the prescription-indication profile of LEV in the treatment of epileptic seizures in children younger than 4 years in a tertiary care hospital in southern Chile. Population and method. Observational, descriptive, and retrospective study. The medical records of patients who started treatment with LEV between 2014 and 2019 were reviewed, and data on sociodemographic, pharmacological, and clinical variables were collected. The analysis was based on the description of the profile of patients, prescriptions, follow-up, and safety. Results. A total of 68 patients were included: 40 (58.8%) were males, 49 (72.1%) were born at a gestational age ≥ 37 weeks. The main etiology of epilepsy was structural (35.3%); LEV was mostly used in children diagnosed with central nervous system malformation (17.6%), and monotherapy was the prevailing dosage (55.9%). LEV was used for focal seizures in 50% of cases. Five children (7.3%) had psychiatric disorders, classified as probable adverse drug reactions. Conclusion. LEV was used in children with various diagnoses, with a low rate of adverse events. The profile of drug use varied in the different age groups. Future studies are needed to identify effectiveness, especially in newborn infants and patients with refractory epilepsy.

Budget impact analysis of durvalumab consolidation therapy vs no consolidation therapy after chemoradiotherapy in stage III non-small cell lung cancer in the context of the Chilean health care system.

BACKGROUND: Durvalumab, used as consolidation immunotherapy, has shown to improve survival in patients with stage III non-small cell lung cancer who respond to chemoradiotherapy, based on the most recent follow-up of PACIFIC. The Chilean healthcare system provides access to certain immunotherapies for this condition. The present study sought to estimate the budget impact of durvalumab versus standard of care in the context of the Chilean healthcare system. RESEARCH DESIGN AND METHODS: A partitioned survival model was adapted to compare two strategies: durvalumab as consolidation therapy and standard of care for treating stage III NSCLC. The number of patients eligible for treatment was estimated using published incidence data and modeled for a 5-year time horizon. Model inputs were based on published literature, and the duration of treatment was estimated using survival curves obtained from PACIFIC. Costs were estimated in Chilean pesos (CLP) and converted to USD dollars using an exchange rate of USD 1 = CLP 827. Scenario analyses were performed to assess different subsequent therapy splits, variations in the target population and dosage of durvalumab. RESULTS: Durvalumab uptake projected total costs ranging from USD 1.27 in Year 1 to 8.5 million in Year 5 from the public perspective. From the private perspective, the budget impact for the first year is USD 1.3 million to USD 3 million for 2028. This difference relies mostly on the lower number of patients treated. Both perspectives anticipated cost savings over the time horizon through reduced monitoring, adverse events, and end-of-life expenses. CONCLUSIONS: This study demonstrates that the inclusion of Durvalumab for NSCLC in Chile represents an investment in the Chilean health system. The incremental costs align with clinical benefits and potential savings in healthcare resource utilization. However, a comprehensive cost-effectiveness analysis is needed to evaluate its economic value thoroughly.

Acceptability, feasibility and fidelity of the culturally adapted version of Unplugged ("Yo Se Lo Que Quiero"), a substance use preventive program among adolescents in Chile: a pilot randomized controlled study.

INTRODUCTION: The consumption of alcohol, tobacco, and cannabis is a public health problem that impacts the cognitive, social, and emotional development of adolescents. Prevention strategies such as the "Unplugged" program are effective in delaying the progression of daily smoking and episodes of drunkenness among adolescents. "Yo Se Lo Que Quiero" (YSLQQ) corresponds to the adaptation of this program to the Chilean context. This study assesses the acceptability and feasibility of implementing this program to the local reality. MATERIAL AND METHODS: This was a cluster-randomized controlled pilot study conducted on six public schools. All consented students attending 6th, 7th, and 8th grades (n = 1,180) participated in the study. The schools were randomly assigned to one of two conditions in a 1:1 ratio: (1) the "YSLQQ" intervention group (n = 526), and (2) the Control group (n = 654). The program consisted of a 12-hour class-based curriculum based on a comprehensive social-influence approach delivered by a trained facilitator. The acceptability and feasibility were assessed in the intervention group at the end of the intervention using questionnaires answered by students and facilitators. The quality and fidelity of the program were evaluated during the implementation using self-ported surveys answered by the facilitators and the assessment of video-recorded sessions rated by external observers. Finally, a pre-test and a post-test survey assessing past and current substance use and risk and protective factors were conducted before and immediately after the program's implementation. RESULTS: A high proportion of students (49.6%) liked the sessions. 79.2% reported that the YSLQQ helped them learn about the dangers of substances, while 65.8% reported having more skills to avoid substance use in the future. Regarding students' satisfaction with YSLQQ, 62.9% reported being happy or very happy with the program. Facilitators reported implementing the intervention according to the manual in 73.9% of sessions. Regarding substance use, students who participated in the intervention groups reported a significant reduction in drunkenness in the last year and last 30-day prevalence and also a significant reduction in a lifetime and 30-day prevalence of cannabis use when compared with those students in the control group. CONCLUSIONS: Our results suggest that YSLQQ has adequate acceptability and feasibility to be implemented in the Chilean context, and there were promising results in reducing drunkenness and cannabis use. Future research should confirm these results in a larger RCT study. TRIAL REGISTRATION: The trial was registered in ClinicalTrials.gov, NCT04566627; registration date: 01/03/2019.

Characteristics of HIV-associated cryptococcal meningitis in a tertiary Chilean hospital: An observational retrospective study.

BACKGROUND: Central nervous system opportunistic infections can be the first presentation of an HIV infection. Our aim is to describe clinical and laboratory characteristics of HIV-associated Cryptococcal Meningitis (CM), in-hospital outcomes and analyze associations of these parameters with adverse outcomes. METHODS: Observational study of local cohort of HIV-associated cryptococcal meningitis in a high complexity tertiary urban hospital in Santiago, Chile. Descriptive analysis through chart review of all episodes of HIV-associated CM in adults, from 1995 to 2019. Inclusion criteria were confirmed CM with cerebrospinal fluid culture or India ink in the appropriate clinical context and HIV diagnosis. We selected relevant variables that have been described as predictors of adverse outcomes in the literature and explore associations in our cohort. RESULTS: There were 37 HIV associated CM cases, occurring from 2000 to 2019. Majority were men (86 %) with a median age of 35 years. CM was the first HIV manifestation in 32 %. Opening pressure was measured in 10 % of patients at admission. Most CSF parameters were mildly altered, and two patients presented with completely normal CSF findings. Most patients -94,4 %- suffered adverse events secondary to antifungal therapy. Despite of recommendations against their use, steroids were frequently prescribed. Mortality was 18,9 %, and was associated with older age, and more days of headache prior to admission. CONCLUSIONS: CM clinical presentation and CSF characteristics are variable at presentation, which can lead to delayed diagnosis. Inappropriate use of corticosteroids, antifungal toxicity and suboptimal management of elevated intracranial pressure are key aspects to improve.

Trends in socioeconomic inequalities in life expectancy and lifespan variation in Chile.

Background: Socioeconomic disparities in life expectancy are well-documented in various contexts, including Chile. However, there is a lack of research examining trends in life expectancy inequalities and lifespan variation over time. Addressing these gaps can provide crucial insights into the dynamics of health inequalities. Methods: This study utilizes data from census records, population surveys, and death certificates to compare the life expectancy and the lifespan variation at age 26 of individuals according to their rank in the distribution of years of education within their own birth cohort. The analysis spans three periods (1991, 2002, and 2017) and focuses on two educational groups: individuals in the first (lowest) quintile and tenth (highest) decile of educational attainment. Changes in life expectancy are disaggregated by major causes of death to elucidate their contributions to overall trends. Results: Consistent with existing literature, our findings confirm that individuals with lower education levels experience lower life expectancy and higher lifespan variation compared to their more educated counterparts. Notably, by 2017, life expectancy for individuals in the lowest quintile of education has caught up with that of the top decile in 1991, albeit with contrasting trends between genders. Among women, the gap has reduced, while it has increased for males. Moreover, lifespan variation decreased (increased) over time for individuals in the tenth decile (first quintile). The leading causes of death that explain the increase in life expectancy in women and men in the tenth decile as well as women in the first quintile are cardiovascular, cancer, respiratory and digestive diseases. In the case of males in the first quintile, few gains have been made in life expectancy resulting from cancer and a negative contribution is associated with digestive conditions. Conclusions: This study underscores persistent socioeconomic disparities in life expectancy in Chile, emphasizing the importance of ongoing monitoring of health inequalities across different demographic segments. The gender-specific and educational gradient trends highlight areas for targeted interventions aimed at reducing health disparities and improving overall population health outcomes. Further research is warranted to delve into specific causes of death driving life expectancy differentials and to inform evidence-based policy interventions.

Characterisation and traceability of extra virgin olive oil and table olive of Azapa variety marketed in Chile using Microsatellite Molecular Markers / Caracterización y trazabilidad de aceite de oliva virgen extra y aceituna de mesa de la variedad Azapa comercializados en Chile mediante marcadores moleculares microsatélites

Chile has two certified origin olive products: Extra-Virgin Olive Oil (EVOO) from Huasco valley and the Azapa variety table olive from the Azapa valley. However, efficient methodologies are needed to determine the varieties and raw materials involved in the end products. In this study, we assessed the size of alleles from ten microsatellites in 20 EVOOs and in leaves and fruits of 16 olive varieties cultivated in Chile to authenticate their origins. The identification of varieties relied on specific allele sizes derived from microsatellites markers UDO99-011 and DCA18-M found in leaves and fruit mesocarp. While most Chilean single-variety EVOOs matched the variety declared on the label, inconsistencies were observed in single-variety EVOOs containing multiple varieties. Our findings confirm that microsatellites serve as a valuable as diagnostic tools for ensuring the quality control of Geographical Indication certification for Azapa olives and EVOO with Designation of Origin from Huasco.

Chile cuenta con dos productos de oliva de origen certificado: El aceite de oliva virgen extra (AOVE) del valle del Huasco y la aceituna de mesa de la variedad Azapa del valle de Azapa. Sin embargo, se necesitan metodologías eficientes para determinar las variedades y materias primas involucradas en los productos finales. En este estudio, evaluamos el tamaño de los alelos de diez microsatélites en 20 AOVEs y en hojas y frutos de 16 variedades de aceituna cultivadas en Chile para autentificar sus orígenes. La identificación de las variedades se basó en los tamaños alélicos específicos derivados de los marcadores microsatélites UDO99-011 y DCA18-M encontrados en las hojas y el mesocarpio de los frutos. Aunque la mayoría de los AOVEs chilenos monovarietales coincidían con la variedad declarada en la etiqueta, se observaron incoherencias en los AOVEs monovarietales que contenían múltiples variedades. Nuestros hallazgos confirman que los microsatélites sirven como valiosas herramientas de diagnóstico para asegurar el control de calidad de la certificación de Indicación Geográfica para aceitunas de Azapa y AOVE con Denominación de Origen de Huasco.

Occurrence of marine plastic litter and plasticizers from touristic beaches of Arauco Gulf in Central Chile.

Marine plastic litter (MPL) was collected from beaches (n = 3) of the Arauco Gulf in central Chile in spring 2021 and summer 2022. MPL was analyzed for physical and chemical characteristics, and plasticizers were also screened using FTIR-ATR. Three hundred seventeen plastic items with an accumulated weight of 226.8 g were found. MPL densities ranged from 0.4 to 17.1 items m-2. Significant differences (p < 0.05) between seasons were observed for Arauco and Maule beaches, being ∼ten times higher in summer compared to spring. Solid pieces were the predominant shape, macroplastics were the most abundant (>2.5 cm), and white and blue colors were dominant. Polypropylene (52 %) and polyethylene (31 %) were the predominant polymers. Plasticizers (n = 3) were detected in the MPL in the study area (dioctyl phthalate, polybutene, and alpha-methylstyrene) for the first time. This study contributes new information related to MPL in coastal areas of central Chile and their chemical composition.

Influence of Seropositivity against Adenovirus-36 on the Risk of Obesity and Insulin Resistance in the Child Population of Southern Chile.

Background: Previous infection with Adenovirus-36 (HAdv-D36) has been associated with adipogenesis and glycemic regulation in cell culture and animal models. In humans, HAdv-D36 antibodies correlate with increased obesity risk yet paradoxically enhance glycemic control across various demographics. This study assesses the association of HAdv-D36 seropositivity with obesity, lipid, and glycemic profiles among school-aged children. Methods: We evaluated 208 children aged 9-13, categorized by BMI z-scores into normal weight (-1 to +1), overweight (+1 to +2), and obese (>+3). Assessments included anthropometry, Tanner stage for pubertal development, and biochemical tests (relating to lipids, glucose, and insulin), alongside HAdv-D36 seropositivity checked via ELISA. Insulin resistance was gauged using Chilean pediatric criteria. Results: The cohort displayed a high prevalence of overweight/obesity. HAdv-D36 seropositivity was 5.4%, showing no correlation with nutritional status. Additionally, no link between HAdv-D36 seropositivity and lipid levels was observed. Notably, insulin levels and HOMA-RI were significantly lower in HAdv-D36 positive children (p < 0.001). No cases of insulin resistance were reported in the HAdv-D36 (+) group in our population. Conclusions: HAdv-D36 seropositivity appears to decrease insulin secretion and resistance, aligning with earlier findings. However, no association with obesity development was found in the child population of southern Chile.

Folate and Vitamin B12 Levels in Chilean Women with PCOS and Their Association with Metabolic Outcomes.

Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects women of reproductive age. Many women with PCOS have been found to have an unbalanced diet and deficiencies in essential nutrients. This study aimed to assess the levels of folate and vitamin B12 (B12) and their relationship with metabolic factors in women with PCOS. Anthropometric, clinical, and genetic analyses were conducted to evaluate markers related to one-carbon metabolism in women with PCOS and in a control group. The PCOS group had a higher BMI and HOMA-IR (1.7 vs. 3.1; p < 0.0001). HDL cholesterol levels were 23% lower and triglyceride levels were 74% higher in women with PCOS. Although there were no significant differences in folate and B12 levels between the PCOS and control groups, over 60% of women with PCOS had low B12 levels (<300 pg/mL) and high homocysteine levels. In addition, the MTHFR A1298C and C677T polymorphisms were not associated with PCOS. Moreover, erythrocyte folate levels were positively correlated with fasting glucose, triglycerides, and free androgen index, and negatively correlated with SHBG and LH levels. These results suggest that B vitamins may be associated with the metabolic phenotype in PCOS. This study emphasizes the potential link between folate, vitamin B12, and metabolic and hormonal outcomes in women with PCOS.

Evaluation of the Biological Activities of Peptides from Epidermal Mucus of Marine Fish Species from Chilean Aquaculture.

The skin of fish is a physicochemical barrier that is characterized by being formed by cells that secrete molecules responsible for the first defense against pathogenic organisms. In this study, the biological activity of peptides from mucus of Seriola lalandi and Seriolella violacea were identified and characterized. To this purpose, peptide extraction was carried out from epidermal mucus samples of juveniles of both species, using chromatographic strategies for purification. Then, the peptide extracts were characterized to obtain the amino acid sequence by mass spectrometry. Using bioinformatics tools for predicting antimicrobial and antioxidant activity, 12 peptides were selected that were chemically produced by simultaneous synthesis using the Fmoc-Tbu strategy. The results revealed that the synthetic peptides presented a random coil or extended secondary structure. The analysis of antimicrobial activity allowed it to be discriminated that four peptides, named by their synthesis code 5065, 5069, 5070, and 5076, had the ability to inhibit the growth of Vibrio anguillarum and affected the copepodite stage of C. rogercresseyi. On the other hand, peptides 5066, 5067, 5070, and 5077 had the highest antioxidant capacity. Finally, peptides 5067, 5069, 5070, and 5076 were the most effective for inducing respiratory burst in fish leukocytes. The analysis of association between composition and biological function revealed that the antimicrobial activity depended on the presence of basic and aromatic amino acids, while the presence of cysteine residues increased the antioxidant activity of the peptides. Additionally, it was observed that those peptides that presented the highest antimicrobial capacity were those that also stimulated respiratory burst in leukocytes. This is the first work that demonstrates the presence of functional peptides in the epidermal mucus of Chilean marine fish, which provide different biological properties when the fish face opportunistic pathogens.

Effect of the Proximity to the Quintero-Puchuncaví Industrial Zone on Compounds Isolated from Baccharis macraei Hook. & Arn: Their Antioxidant and Cytotoxic Activity.

Baccharis macraei Hook. & Arn (Asteraceae), commonly known as Vautro, is found in the coastal areas of central-southern Chile, including the industrial zone of Quintero-Puchuncaví, known for the contamination of its soils with heavy metals, which together with other factors generate abiotic stress in plant species, against which they present defensive mechanisms. For this reason, the objective was to evaluate the effect of abiotic stress generated by the proximity of B. macraei to the industrial complex by assessing the physiological and metabolic states reported by the extracts and compounds isolated from the species, as well as the photosynthetic capacity, metal content and production, and antioxidant activity and cytotoxicity against tumorigenic cell lines of the phytoconstituents. To this end, B. macraei was collected at two different distances from the industrial complex, observing that the closer the species is, the greater the concentration of copper in the soil, generating a decrease in the rate of electron transport in situ, but an increase in antioxidant activity with low cytotoxicity. This activity could be due to the presence of flavonoids such as Hispidulin, Cirsimaritina, and Isokaempferida, as well as monoterpenes, oxygenated and non-oxygenated sesquiterpenes identified in this study.

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

Leber congenital amaurosis (LCA)/early-onset severe retinal dystrophy (EOSRD) stand as primary causes of incurable childhood blindness. This study investigates the clinical and molecular architecture of syndromic and non-syndromic LCA/EOSRD within a Chilean cohort (67 patients/60 families). Leveraging panel sequencing, 95.5% detection was achieved, revealing 17 genes and 126 variants (32 unique). CRB1, LCA5, and RDH12 dominated (71.9%), with CRB1 being the most prevalent (43.8%). Notably, four unique variants (LCA5 p.Glu415*, CRB1 p.Ser1049Aspfs*40 and p.Cys948Tyr, RDH12 p.Leu99Ile) constituted 62.7% of all disease alleles, indicating their importance for targeted analysis in Chilean patients. This study underscores a high degree of inbreeding in Chilean families affected by pediatric retinal blindness, resulting in a limited mutation repertoire. Furthermore, it complements and reinforces earlier reports, indicating the involvement of ADAM9 and RP1 as uncommon causes of LCA/EOSRD. These data hold significant value for patient and family counseling, pharmaceutical industry endeavors in personalized medicine, and future enrolment in gene therapy-based treatments, particularly with ongoing trials (LCA5) or advancing preclinical developments (CRB1 and RDH12).

Infodemia, salud mental, personas mayores: su caracterización en tiempos de pandemia covid-19 / Infodemia, mental health, older people: its characterization in times of the covid-19 pandemic / Infodemia, saúde mental, idosos: sua caracterização em tempos de pandemia da covid-19

Introducción: "Infodemia" define a aquella información que se divulga rápidamente y sin mayor evidencia, ocasionando desinformación y malos hábitos sanitarios. Objetivo: Caracterizar a las personas mayores con respecto a salud mental e infodemia. Materiales y métodos: estudio cuantitativo, descriptivo, transversal. Muestra no probabilística, conformada por 195 personas mayores, quienes respondieron cuestionario telefónico u online para: Infodemia, Escala de Estrés Percibido, Escala de Depresión Geriátrica Yesavage e Inventario de Ansiedad Generalizada. Previa aceptación de consentimiento informado. Estudio fue aprobado por Comité ético acreditado. Resultados: 58% fueron mujeres, 90% se encontraban jubilados y/o pensionados. El 65% percibía un sueldo igual o menor a US 300. El promedio de horas destinado a información por Covid-19 fue de 5±2,5. La mayoría se sintió afectado/a física y psicológicamente por las noticias. Casi el 30% de los encuestados refirió miedo y ansiedad frente al número de muertos e infectados. 65% se sintió estresado, 9% presentó depresión grave y 20% mostró ansiedad generalizada en este periodo. Discusión: la población mundial está envejeciendo y durante la pandemia fueron los más vulnerables a Covid-19. Este grupo se sintió afectado física y psicológicamente por la información recibida y por ello se requiere romper el ciclo de la desinformación, siendo los profesionales de enfermería los más idóneos para ello. Conclusiones: Las personas mayores se sintieron afectadas por la Infodemia. Se requiere del trabajo multidisciplinario para hacer frente a esta problemática, reforzando la alfabetización para la salud, como estrategia para que las personas mayores logren discriminar la exorbitante información de salud circulante.

Introduction: "Infodemic" defines information that is disseminated quickly and without further evidence, causing misinformation and bad health habits. Objective: Characterize older people with respect to mental health and infodemic. Materials and methods: quantitative, descriptive, cross-sectional study. Non-probabilistic sample, made up of 195 older people, who answered a telephone or online questionnaire for: Infodemic, Perceived Stress Scale, Yesavage Geriatric Depression Scale and Generalized Anxiety Inventory. Prior acceptance of informed consent. Study was approved by an accredited ethical committee. Results: 58% were women, 90% were retired and/or pensioners. 65% received a salary equal to or less than US 300. The average number of hours allocated to Covid-19 information was 5±2.5. The majority felt physically and psychologically affected by the news. Almost 30% of those surveyed reported fear and anxiety regarding the number of deaths and infections. 65% felt stressed, 9% presented severe depression and 20% showed generalized anxiety in this period. Discussion: The world's population is aging and during the pandemic they were the most vulnerable to Covid-19. This group felt physically and psychologically affected by the information received and therefore it is necessary to break the cycle of misinformation, with nursing professionals being the most suitable for this. Conclusions: Older people felt affected by the Infodemic. Multidisciplinary work is required to address this problem, reinforcing health literacy, as a strategy for older people to be able to discriminate the exorbitant circulating health information.

Introdução: "Infodemia" define informações que são divulgadas rapidamente e sem maiores evidências, causando desinformação e maus hábitos de saúde. Os idosos foram os mais vulneráveis aos efeitos da Covid-19, pouco se sabe sobre a sua saúde mental e a infodemia neste período. Objetivo: Caracterizar os idosos quanto à saúde mental e à infodemia. Materiais e métodos: estudo quantitativo, descritivo, transversal. Amostra não probabilística, composta por 195 idosos, que responderam a questionário telefônico ou online de: Infodemia, Escala de Estresse Percebido, Escala de Depressão Geriátrica de Yesavage e Inventário de Ansiedade Generalizada. Aceitação prévia do consentimento informado. O estudo foi aprovado por um comitê de ética credenciado. Resultados: 58% eram mulheres, 90% eram aposentadas e/ou pensionistas. 65% recebiam um salário igual ou inferior a US$ 300. O número médio de horas destinadas à informação sobre a Covid-19 foi de 5±2,5. A maioria sentiu-se física e psicologicamente afetada pela notícia. Quase 30% dos entrevistados relataram medo e ansiedade em relação ao número de mortes e infecções. 65% sentiram-se estressados, 9% apresentaram depressão grave e 20% apresentaram ansiedade generalizada neste período. Discussão: A população mundial está envelhecendo edurante a pandemia eles eram os mais vulneráveis à Covid-19. Este grupo sentiu-se afetado física e psicologicamente pelas informações recebidas e por isso é necessário quebrar o ciclo de desinformação, sendo os profissionais de enfermagem os mais indicados para isso. Conclusões: Os idosos sentiram-se afetados pela Infodemia. É necessário um trabalho multidisciplinar para resolver este problema, reforçando a literacia em saúde, como estratégia para que os idosos consigam discriminar a exorbitante informação de saúde que circula.

Análisis de la Distancia entre Hueso Occipital y Atlas en Telerradiografía Lateral de Cráneo / Analysis of the Distance Between the Occipital Bone and Atlas in Lateral Cephalograms

El conocimiento del espacio suboccipital (OA) es esencial para el clínico debido a que su disminución se asocia a posible causa de cefaleas. El objetivo de este estudio fue determinar las diferencias entre la longitud del espacio suboccipital en telerradiografías laterales entre hombres y mujeres de distintos rangos etarios. En este estudio transversal se analizaron un total de 371 telerradiografías laterales de cráneo. Se realizó estadística descriptiva y la aplicación de prueba T-Student y ANOVA para evaluar la asociación entre el espacio suboccipital con el género y la edad. La distancia media del espacio suboccipital fue de 5.62 ± 2.7 mm, siendo mayor en hombres que en mujeres (6.49 ± 2.8 mm y 5.09 ± 2.5 mm respectivamente, p<0.001). Con respecto a la edad, la distancia del espacio suboccipital no presentó variaciones significativas. La longitud del OA entre los hombres y mujeres de distintos grupos tampoco mostró diferencias significativas. Existe una gran variabilidad en la distancia del espacio suboccipital, el cual se observa más disminuido en mujeres, por lo que se sugiere un análisis individual mediante telerradiografía lateral frente a pacientes con cefaleas.

SUMMARY: Knowledge of the suboccipital space (OA) is essential for clinicians because its decrease is associated with headache. The aim of this study was to determine the differences in the length of the suboccipital space in lateral cephalograms of men and women of different age ranges. In this cross-sectional study, a total of 371 lateral cephalograms were analyzed. Descriptive statistics and the application of Student's t-test and ANOVA were performed to evaluate the association between the suboccipital space with sex and age. The mean distance of the suboccipital space was of 5.62 ± 2.7 mm, being higher in men than women (6.49 ± 2.8 mm and 5.09 ± 2.5 mm respectively, p < 0.001). Regarding age, the distance of the suboccipital space did not show significant variations. The length of the OA between men and women of different age groups also showed no significant differences. There is a great variability in the distance of the suboccipital space, which is observed to be more decreased in women; therefore, an individual analysis by lateral cephalograms is suggested in patients with chronic headaches.

Dr. Hugo Ariel Hernández-Parada: Análisis Bibliométrico de su Obra y Legado para la Anatomía Chilena / Dr. Hugo Ariel Hernández-Parada: Bibliometric Analysis of his Work and Legacy for Chilean Anatomy

La presente investigación documental con diseño bibliométrico pretender caracterizar la producción científica del Dr. Hugo Ariel Hernández-Parada, fundador del actual Instituto de Anatomía, Histología y Patología de la Universidad Austral de Chile (UACh). Por medio de la búsqueda electrónica en seis bases de datos se identificaron 42 estudios (41 artículos y 1 tesis), cuyo análisis bibliométrico determinó que su quehacer dentro de la investigación en el campo de la Anatomía Humana estuvo centrado en el estudio del Sistema Nervioso Autónomo, seguida del Sistema Nervioso Periférico, Miología y Anatomía de cabeza y cuello. La mayoría de sus obras fueron realizadas en muestras humanas (fetos), publicadas en idioma español, en revistas chilenas, y como autor principal en 41 de los 42 registros encontrados. Por medio de esta investigación, se pretende recordar y rendir homenaje a este destacado anatomista, cuya obra contribuyó al desarrollo y difusión de la Anatomía Humana en Chile.

SUMMARY: This documentary research via bibliometric design, aims to characterize the scientific contribution of Dr. Hugo Ariel Hernández-Parada, the founder of the current Institute of Anatomy, Histology and Pathology of the Universidad Austral de Chile (UACh). An electronic search was carried out in six databases, 42 studies (41 articles and 1 thesis) were identified. Their bibliometric analysis determined that the work of these research studies in the field of Human Anatomy was focused on the study of the Autonomous Nervous System, followed by the Peripheral Nervous System, Myology and Anatomy of the head and neck. Most of his works were carried out on human samples (fetuses), published in Spanish in Chilean science journals, and as the main author in 41 of the 42 records found. Through this research, it is intended to remember and offer tribute to this outstanding anatomist, whose work contributed to the development and diffusion of human anatomy in Chile.

Biometrics of the Hand's Middle Finger to Determine Stature in Chilean University Students / Biometría del Dedo Medio de la Mano para Determinar Estatura en Estudiantes Universitarios Chilenos

SUMMARY: Biometrics and forensic osteology play a significant role in human identification, as the morphological uniqueness of every individual enables the differentiation and recognition of skeletal remains. Through meticulous analysis of human remains, it is possible to determine key demographic attributes such as stature, a significant parameter in the forensic identification process. This information is of practical relevance for the identification of individuals in contexts such as disasters, vehicular accidents, terrorist attacks, armed conflicts, and forensic investigations. The objective of this study was to determine the correlation between the hand's middle finger length and stature in a group of Chilean students. A total of 211 students of both sexes from La Araucanía region, Chile, participated in the study. After obtaining informed consent to participate voluntarily in the study, each individual underwent a general anthropometric examination, followed by a specific assessment of the length of the middle finger (MFL) of both hands. The results of the multiple linear regression analysis indicated a significant prediction of stature using the length of the right (R-MFL) and left (L-MFL) middle fingers, F (2, 207) = 79.80, p < 0.001. The equations for estimating stature based on the length of the middle fingers are as follows: for R-MFL, Stature = 91.265 + (8.092 x R-MFL), and for L-MFL, Stature = 83.967 + (8.889 x L-MF). Based on these results, it was found that the length of the middle finger of both hands is predictive of stature.

La biometría y la osteología forense desempeñan un papel relevante en la identificación humana, dado que la singularidad morfológica de cada individuo permite la diferenciación y reconocimiento de restos óseos. Mediante el análisis meticuloso de los restos humanos, es posible determinar atributos demográficos clave como la estatura, un parámetro significativo en el proceso de identificación forense. Esta información posee relevancia práctica para la identificación de personas en contextos de desastres, accidentes vehiculares, ataques terroristas, conflictos armados e investigaciones forenses. El objetivo de este estudio fue determinar la correlación entre la longitud del dedo medio de la mano con la estatura, en un grupo de estudiantes chilenos. Se evaluaron 211 estudiantes de ambos sexos de la región de La Araucanía, Chile. Tras obtener el consentimiento informado para participar voluntariamente en el estudio, se sometió a cada individuo a un examen antropométrico general, seguido de una evaluación específica de la longitud del dedo medio (MFL) de ambas manos. Los resultados del análisis de las regresiones lineales múltiples indicaron una significativa predicción de estatura utilizando la longitud de los dedos medios derecho (R-MFL) e izquierdo (L-MFL), F (2, 207) = 79.80, p < 0.001. Las ecuaciones para estimar estatura basados en la longitud de los dedos medios son las siguientes: para R-MFL, Stature = 91.265 + (8.092 x R-MFL) y para L-MFL, Stature = 83.967 + (8.889 x L- MF). A partir de estos resultados, se encontró que la longitud del dedo medio de ambos manos es predictora de estatura.

Cross-Cultural Adaptation and Face Validation of the Chilean Version of the Operated Male to Female Sexual Function Index.

INTRODUCTION AND HYPOTHESIS: Transgender and gender-diverse people often experience discrimination or even outright exclusion when undergoing medical attention. It has been shown that gender-affirming treatments improve quality of life in transgender patients, and genital-affirming surgery (GAS) is increasingly spreading worldwide. Sexual function after male-to-female GAS has long been evaluated by using tools designed for assigned female at birth (AFAB), resulting in suboptimal assessments. Currently, the operated Male to Female Sexual Function Index (oMtFSFI) is the only validated questionnaire to assess the sexual function of operated transgender women. The current study was aimed at performing cross-cultural adaptation and to test the face validity of the Chilean version of the oMtFSFI. METHODS: We carried out an observational descriptive study. The questionnaire was translated into Spanish, adapted, and face validated in five phases with eight participants. The study was approved by the Universidad del Desarrollo Scientific Ethics Committee. RESULTS: According to participants, the questionnaire was shown to both pertinently and exhaustively evaluate the sexual function of post-feminizing genitoplasty transgender women. The questionnaire was well understood by the participants, except for a difficulty in understanding certain terms. Some participants criticized the perspective of the instrument in terms of the assumption of having a partner or having penetrative intercourse via the neovagina. The amendments to the Italian version of the questionnaire were discussed until an agreement on adaptation considering the patient´s perspective was reached. The present preliminary data support the face validity of the Chilean version of the oMtFSFI in the assessment of sexual function in operated transgender women. CONCLUSIONS: This adapted questionnaire could be a valuable tool for clinicians and researchers.

[Microorganisms isolated from blood cultures and resistance profile in children with cancer and high-risk febrile neutropenia. Red PINDA, Chile, 2016-2021]. / Microorganismos aislados de hemocultivos y su perfil de resistencia en niños con cáncer y neutropenia febril de alto riesgo. Red PINDA, Chile, 2016-2021.

Bacteremia is a major cause of morbidity and mortality in patients with cancer and episodes of high-risk febrile neutropenia (HRFN). OBJECTIVE: To identify the frequency of microorganisms isolated from blood cultures (BC) and their antimicrobial resistance (R) profile in children with HRFN, compared with the same data from previous studies of the same group. METHOD: Prospective, multicenter, epidemiological surveillance study of microorganisms isolated from BC in patients under 18 years of age, from 7 PINDA network hospitals, between 2016 and 2021. RESULTS: 284 episodes of HRFN with positive BC were analyzed out of 1091 enrolled episodes (26%). Median age 7.2 years [3.0-12.3]. The main isolates were gram-negative bacilli (GNB) 49.2%, gram-positive cocci (GPC) 43.8%, and fungi 3.6%. The most frequently isolated microorganisms were viridans group Streptococci (VGS) (25.8%), Escherichia coli (19.8%), Pseudomonas spp. (11.2%), Klebsiella spp. (10.9%), and coagulase negative Staphylococci (CoNS) (10.9%). There was an increase in R to third-generation cephalosporins (p = 0.011) in GNB and to oxacillin in CoNS (p = 0.00), as well as a decrease in R to amikacin in non-fermenting GNB (p = 0.02) and to penicillin in VGS (p = 0.04). CONCLUSION: VGS is the main agent isolated in BC from pediatric patients with cancer and episodes of HRFN, followed by E. coli, Pseudomonas spp., and Klebsiella spp. Having epidemiological surveillance of microorganisms isolated from BC and their antimicrobial R profile is essential to favor the rational use of antimicrobials.