A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System.

BACKGROUND: X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the XLMTM disease burden have been conducted in Brazil. We identified and described patients with suspected XLMTM using administrative claims data from the Brazilian public healthcare system. METHODS: Data from 2015 to 2019 were extracted from the DATASUS database. As no XLMTM-specific ICD-10 code was available, a stepwise algorithm was applied to identify patients with suspected XLMTM by selecting male patients with a congenital myopathies code (G71.2), aged < 18 years at index date (first claim of G71.2), with an associated diagnostic procedure (muscle biopsy/genetic test) and without spinal muscular atrophy or Duchenne muscular dystrophy. We attempted to identify patients with suspected severe XLMTM based on use of both respiratory and feeding support, which are nearly universal in the care of XLMTM patients. Analyses were performed for the overall cohort and stratified by age at index date < 5 years old and ≥ 5 years old. RESULTS: Of 173 patients with suspected XLMTM identified, 39% were < 5 years old at index date. Nearly all (N = 166) patients (96%) were diagnosed by muscle biopsy (91% of patients < 5 years old and 99% of patients ≥ 5 years old), six (3.5%) were diagnosed by clinical evaluation (8% of patients < 5 years old and 1% of patients ≥ 5 years old), and one was diagnosed by a genetic test. Most patients lived in Brasilia (n = 55), São Paulo (n = 33) and Minas Gerais (n = 27). More than 85% of patients < 5 years old and approximately 75% of patients ≥ 5 years old had physiotherapy at the index date. In both age groups, nearly 50% of patients required hospitalization at some point and 25% required mobility support. Respiratory and feeding support were required for 3% and 12% of patients, respectively, suggesting that between 5 and 21 patients may have had severe XLMTM. CONCLUSION: In this real-world study, genetic testing for XLMTM appears to be underutilized in Brazil and may contribute to underdiagnosis of the disease. Access to diagnosis and care is limited outside of specific regions with specialized clinics and hospitals. Substantial use of healthcare resources included hospitalization, physiotherapy, mobility support, and, to a lesser extent, feeding support and respiratory support.

Factors Associated With Mortality During the First Year Post Infarction: Survival Analysis of Patients With Acute Myocardial Infarction in Colombia.

INTRODUCTION: Cardiovascular diseases account for over 80% of global deaths. Risk factors and social determinants influence mortality in patients post acute myocardial infarction (AMI). OBJECTIVE: To evaluate factors associated with post-AMI mortality during the one-year follow-up. MATERIALS AND METHODS: The study is a prospective cohort study of adults aged 18 years and older with type 1 AMI conducted between October 2021 and January 2024. Intrahospital and outpatient information was collected. Statistical analyses included the Kaplan-Meier survival curve and Cox regression analysis. Proportional hazards and model predictive capacity were evaluated. RESULTS: A total of 1873 patients were included, with a 9.4% mortality rate in the first year. At one year, the estimated survival probability was 88.61% (95% CI: 86.82-90.18). Cox analysis identified several factors associated with mortality, highlighting age (HR = 1.04, 95% CI: 1.02-1.06, p = 0.001), diabetes (HR = 1.77, 95% CI: 1.09-2.87, p = 0.020), renal insufficiency (HR = 2.25, 95% CI: 1.32-3.84, p = 0.003), and type of intervention. The model evaluation showed strong predictive capacity. CONCLUSIONS: It is essential to emphasize the importance of comprehensive management in AMI patients with risk factors such as diabetes and chronic kidney disease, as they are significant predictors of mortality during the first year post infarction.

Shipwrecked on the Rock, or Not Quite: Gypsophytes and Edaphic Islands.

Species-area relationships (SAR) constitute a key aspect of ecological theory and are integral to other scientific disciplines, such as biogeography, which have played a crucial role in advancing biology. The theory of insular biogeography provides a clear example. This theory initially expanded from true islands to other types of systems characterized by their insularity. One such approach was linked to geoedaphic islands, as seen in gypsum outcrops. While these continental areas have been considered insular systems, only limited and mostly indirect evidence thereof has been provided. This study utilized SAR to advance the understanding of gypsum outcrops as insular continental territories. It is hereby hypothesized that gypsum outcrops are edaphic islands, although their insular nature depends on the different functional or ecological plant types, and this nature will be reflected in the potential Arrhenius model z values. The results obtained support both hypotheses and provide insight into the ecological factors that help interpret the insularity of these areas. This interpretation goes beyond their mere extent and the distance among outcrops, emphasizing the importance of environmental filters. Said filters vary in permeability depending on the degree of gypsophily, or preference for gypsum, exhibited by different species.

Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals. Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data. We investigated electroencephalographic findings, focusing on the cortical distribution of interictal abnormalities and their changes with age. Among the 36 SYNGAP1-DEE cases 18 presented variants in the SYNGAP1 gene that had never been previously reported. The mean age of diagnosis was 8 years and 8 months, ranging from 2 to 17 years, with 55.9% being male. All subjects had global neurodevelopmental/language delay and behavioral abnormalities; 83.3% had moderate to profound intellectual disability (ID), 91.7% displayed autistic traits, 73% experienced sleep disorders and 86.1% suffered from epileptic seizures, mainly eyelid myoclonia with absences (55.3%). A total of 63 VEEGs were revised, observing a worsening of certain EEG findings with increasing age. A disorganized background was observed in all age ranges, yet this was more common among older cases. The main IEDs were bilateral synchronous and asynchronous posterior discharges, accounting for ≥50% in all age ranges. Generalized alterations with maximum amplitude in the anterior region showed as the second most frequent IED (≥15% in all age ranges) and were also more common with increasing age. Finally, diffuse fast activity was much more prevalent in cases with 6 years or older. To the best of our knowledge, this is the first study to analyze EEG features across different age groups, revealing an increase in interictal abnormalities over infancy and adolescence. Our findings suggest that SYNGAP1 haploinsufficiency has complex effects in human brain development, some of which might unravel at different developmental stages. Furthermore, they highlight the potential of baseline EEG to identify candidate biomarkers and the importance of natural history studies to develop specialized therapies and clinical trials.

Measuring the economic burden of neuromyelitis optica spectrum disorder in Colombia.

OBJECTIVE: To assess the economic burden of neuromyelitis optica spectrum disorder (NMOSD) in the Colombian context. METHODS: Analyses were conducted from a societal perspective using the prevalence-based approach. Costs were expressed in 2022 US dollars (1 USD = $3,914.46 COP). Direct medical costs were assessed from a bottom-up approach. Indirect costs included loss of productivity of the patient and their caregivers. The economic burden of NMOSD in Colombia was estimated as the sum of direct and indirect costs. RESULTS: The direct cost of treating a patient with NMOSD was USD$ 8,149.74 per year. When projecting costs nationwide, NMOSD would cost USD$ 7.2 million per year. Of these costs, 53.5% would be attributed to relapses and 34.4% to pharmacological therapy. Indirect costs potentially attributed to NMOSD in Colombia were estimated at USD$ 1.5 million per year per cohort. Of these, 78% are attributable to loss of patient productivity, mainly due to reduced access to the labor market and premature mortality. CONCLUSIONS: The NMOSD has a representative economic burden at the patient level, with direct costs, particularly related to relapses and medicines, being the main component of total costs. These findings are useful evidence that requires attention from public policymakers in Colombia.

[Vitamin D in a pediatric population after the end of home lockdown: a prospective study]. / Vitamina D en pediatría tras el fin del confinamiento domiciliario: estudio prospectivo.

Home confinement during the onset of the SARS-CoV-2 pandemic decreased sunlight exposure, the main source of vitamin D in the body. OBJECTIVE: To evaluate the impact of SARS-CoV-2 confinement on 25-hydroxyvitamin D (25-OH-VD) levels in a pediatric population. PATIENTS AND METHODS: Observational study in a Spanish pediatric population between June and October 2020. 25-OH- VD levels were measured by electrochemiluminescence and several related variables were collected (anthropometry, sex, skin phototype, date, calcium level, inorganic phosphorus, parathormone, and alkaline phosphatase). The child's companion answered a survey that included the following aspects: access to open air in the house where the confinement took place, hours of sunlight per day received by the child after the end of the confinement, regular use of sunscreen with outdoor exposure, skin phototype of the child, type of milk the child usually drinks, 25-OH-VD supplementation intake, and if so, dosage and adherence to treatment. RESULTS: 123 children participated, mean age 8.15 years (95%CI 7.52-8.79), and 56.1% were female. The median 25-OH-VD was 27.70 ng/ml (RIC 22.7533.60), and 14% presented 25-OH-VD insufficiency (< 20 ng/ml). 25-OH-VD levels presented an ascending correlation slope as the date moved away from the end of confinement (Rho 0.467; p < 0.001), being related to sunshine hours (Rho 0.368; p < 0.001). 25-OH-VD levels were higher in patients with photoprotection (median 29.9 vs 23.5 ng/ml, p = 0.005), with differences according to skin phototype (p = 0.032), but were not related to age, weight z-score, height z-score, body mass index z-score, or the presence of a balcony or garden at home. CONCLUSION: The rate of 25-OH-VD insufficiency at the end of confinement was not higher than in previous studies. 25-OH-VD levels increased progressively in relation to the hours of sunlight exposure and to the summer months. Interestingly, 25-OH-VD levels were higher in children using phot.

[Neonatal seizures and progression to epilepsy in a tertiary hospital]. / Crisis neonatales y evolución a epilepsia en un hospital de tercer nivel.

INTRODUCTION: Given the immaturity of the newborn, neonatal seizures are a diagnostic challenge. Most of them are secondary to an acute event. A small percentage constitute the onset of epilepsy. AIMS: The aim was to analyse neonates with a diagnosis of seizures admitted to a tertiary hospital between November 2009 and May 2021, and their subsequent progression to epilepsy. MATERIAL AND METHODS: A retrospective observational study was carried out using the hospital database. Information was collected on neonates with a discharge diagnosis of 'seizures' or 'moderate or severe hypoxic-ischaemic encephalopathy'. Different variables were analysed: aetiology of the seizures, type, persistence over time, treatment and electroclinical correlates. RESULTS: Of 165 patients, 55 presented neonatal seizures. As regards aetiology, 43 patients (78%) had seizures secondary to an acute event, of which 19 (34%) were hypoxic-ischaemic encephalopathies, and 22 (40%) had other acute disorders. Genetic alteration was found in six of them (11%). Thirteen patients (24%) progressed to subsequent epilepsy, of whom seven had symptomatic epilepsy, with a period of latency after the acute event in two patients. Six patients had neonatal epilepsy with unprovoked seizures. Twenty-two (62%) showed electroclinical correlates. All of the confirmed crises (100%) were focal. All the seizures were treated. The drug of choice was phenobarbital. CONCLUSIONS: Diagnosis of neonatal seizures requires high clinical suspicion and electroclinical confirmation. Most of them progress favourably, but a percentage constitute the onset of epilepsy, the identification of which will determine their therapeutic management.

TITLE: Crisis neonatales y evolución a epilepsia en un hospital de tercer nivel.Introducción. Las convulsiones neonatales son un reto diagnóstico, dada la inmadurez del recién nacido. La mayoría son secundarias a un evento agudo. Un pequeño porcentaje constituye el inicio de una epilepsia. Objetivos. Analizar a los neonatos ingresados en un hospital de tercer nivel con diagnóstico de crisis entre noviembre de 2009 y mayo de 2021, y su evolución posterior a epilepsia. Material y métodos. Se ha realizado un estudio observacional retrospectivo utilizando la base de datos del hospital. Se ha recogido la información de los neonatos con diagnóstico en el alta de 'convulsiones' o 'encefalopatía hipóxico-isquémica moderada o grave'. Se analizaron distintas variables: etiología de las crisis, tipo, persistencia temporal, tratamiento y correlato electroclínico. Resultados. De 165 pacientes, 55 presentaron crisis neonatales. En cuanto a la etiología, 43 pacientes (78%) tuvieron crisis secundarias a un evento agudo, de las cuales 19 (34%) fueron encefalopatías hipóxico-isquémicas, y 22 (40%), otras alteraciones agudas. En seis (11%) se encontró alteración genética. Trece pacientes (24%) evolucionaron a una epilepsia posterior, de los cuales siete presentaron una epilepsia sintomática, con un período de latencia tras el evento agudo en dos pacientes. Seis pacientes tuvieron epilepsia neonatal con crisis no provocadas. Veintidós (62%) mostraron correlato electroclínico. El 100% de las crisis confirmadas fueron focales. Todas las crisis se trataron. El fármaco de elección fue el fenobarbital. Conclusiones. El diagnóstico de convulsiones neonatales requiere una alta sospecha clínica y una confirmación electroclínica. La mayoría tiene evolución favorable, pero un porcentaje constituye el inicio de una epilepsia, cuya identificación determinará su manejo terapéutico.

Crisis neonatales y evolución a epilepsia en un hospital de tercer nivel / Neonatal seizures and progression to epilepsy in a tertiary hospital

Introducción Las convulsiones neonatales son un reto diagnóstico, dada la inmadurez del recién nacido. La mayoría son secundarias a un evento agudo. Un pequeño porcentaje constituye el inicio de una epilepsia. Objetivos Analizar a los neonatos ingresados en un hospital de tercer nivel con diagnóstico de crisis entre noviembre de 2009 y mayo de 2021, y su evolución posterior a epilepsia. Material y métodos. Se ha realizado un estudio observacional retrospectivo utilizando la base de datos del hospital. Se ha recogido la información de los neonatos con diagnóstico en el alta de ‘convulsiones’ o ‘encefalopatía hipóxico-isquémica moderada o grave’. Se analizaron distintas variables: etiología de las crisis, tipo, persistencia temporal, tratamiento y correlato electroclínico. Resultados De 165 pacientes, 55 presentaron crisis neonatales. En cuanto a la etiología, 43 pacientes (78%) tuvieron crisis secundarias a un evento agudo, de las cuales 19 (34%) fueron encefalopatías hipóxico-isquémicas, y 22 (40%), otras alteraciones agudas. En seis (11%) se encontró alteración genética. Trece pacientes (24%) evolucionaron a una epilepsia posterior, de los cuales siete presentaron una epilepsia sintomática, con un período de latencia tras el evento agudo en dos pacientes. Seis pacientes tuvieron epilepsia neonatal con crisis no provocadas. Veintidós (62%) mostraron correlato electroclínico. El 100% de las crisis confirmadas fueron focales. Todas las crisis se trataron. El fármaco de elección fue el fenobarbital. Conclusiones El diagnóstico de convulsiones neonatales requiere una alta sospecha clínica y una confirmación electroclínica. La mayoría tiene evolución favorable, pero un porcentaje constituye el inicio de una epilepsia, cuya identificación determinará su manejo terapéutico. (AU)

INTRODUCTION Given the immaturity of the newborn, neonatal seizures are a diagnostic challenge. Most of them are secondary to an acute event. A small percentage constitute the onset of epilepsy. AIMS. The aim was to analyse neonates with a diagnosis of seizures admitted to a tertiary hospital between November 2009 and May 2021, and their subsequent progression to epilepsy. Material and methods. A retrospective observational study was carried out using the hospital database. Information was collected on neonates with a discharge diagnosis of ‘seizures’ or ‘moderate or severe hypoxic-ischaemic encephalopathy’. Different variables were analysed: aetiology of the seizures, type, persistence over time, treatment and electroclinical correlates. RESULTS Of 165 patients, 55 presented neonatal seizures. As regards aetiology, 43 patients (78%) had seizures secondary to an acute event, of which 19 (34%) were hypoxic-ischaemic encephalopathies, and 22 (40%) had other acute disorders. Genetic alteration was found in six of them (11%). Thirteen patients (24%) progressed to subsequent epilepsy, of whom seven had symptomatic epilepsy, with a period of latency after the acute event in two patients. Six patients had neonatal epilepsy with unprovoked seizures. Twenty-two (62%) showed electroclinical correlates. All of the confirmed crises (100%) were focal. All the seizures were treated. The drug of choice was phenobarbital. CONCLUSIONS Diagnosis of neonatal seizures requires high clinical suspicion and electroclinical confirmation. Most of them progress favourably, but a percentage constitute the onset of epilepsy, the identification of which will determine their therapeutic management. (AU)

Microplastics in Seabird Feces from Coastal Areas of Central Chile.

Pollution from plastic waste thrown into the ocean affects all levels of the food chain. Marine species of birds are affected by plastic particles of different sizes, especially the mesoplastics (1 to 10 mm) found in their digestive tract, which mainly cause obstructions. In the case of microplastics (1.000 µm to 1 mm), their presence in the digestive tract of these species has been widely reported. We studied fecal samples of the Dominican gull (Larus dominicanus) (n = 14), Magellanic penguins (Spheniscus magellanicus) (n = 8), and Humboldt penguin (Spheniscus humboldti) (n = 1) obtained from the Wildlife Rehabilitation Center of the Biobío region, Chile. Microfibers of various colors were present in the feces of Dominican gulls and Magellanic penguins, corresponding mainly in composition to polypropylene (PP) (83%) and rayon (77%). These results demonstrate that microplastic particles occur in the coastal environments of central Chile and suggest that they are probably circulating in the food chain.

Alectinib for treating patients with metastatic ALK-positive NSCLC: systematic review and network metanalysis.

Aim: To compare the efficacy and safety of alectinib with other ALK inhibitors in treating patients with metastatic or locally advanced ALK-positive NSCLC. Methods: A systematic literature review was conducted up to November 2021. Network meta-analyses were performed using the frequentist method (random effects). GRADE evidence profile was conducted. Results: 13 RCTs were selected. For overall survival, alectinib was found to reduce the risk of death compared with crizotinib. In progression-free survival, alectinib reduced the risk of death or progression compared with crizotinib and ceritinib. Subgroup analysis by brain metastasis at baseline showed the superiority of alectinib over crizotinib and a similar effect compared with second-and third-generation inhibitors. Alectinib showed a good safety profile compared with the other ALK inhibitors.

This article reports the results of a systematic literature review with network meta-analysis (NMA) that aimed to compare the efficacy and safety of alectinib with other ALK inhibitors in treating patients with metastatic or locally advanced ALK-positive NSCLC. The results show that alectinib reduces the risk of death and the risk of progression compared with crizotinib. For progression-free survival, further significant reductions were observed when compared with ceritinib. For the other ALK inhibitors, no statistically significant differences were found. Subgroup analysis according to the presence of CNS metastases at baseline were consistent in showing the superiority of alectinib over crizotinib and the absence of statistically significant differences compared with second-and third-generation inhibitors. Alectinib showed a good safety profile compared with the other ALK inhibitors, reducing the frequency of adverse events (AEs) compared with ceritinib, and with no statistically significant differences compared with lorlatinib, brigatinib, ensartinib and crizotinib for the frequency of serious AEs or discontinuation of treatment due to AEs. The results of this study suggest clinically relevant insights in decision-making based on patient survival and progression-free survival. Furthermore, considering the importance of reducing the risk of intracranial progression and the need for available therapies for patients who will inevitably progress, alectinib could be considered as a first-line treatment for patients with ALK-positive NSCLC.

Burden of disease of spinal muscular atrophy linked to chromosome 5q (5q-SMA) in Colombia.

OBJECTIVE: This article estimates the disease burden of 5q-SMA in Colombia by using the disability-adjusted life years (DALYs) metric. METHODS: Epidemiological data were obtained from local databases and medical literature and were adjusted in the DisMod II tool. DALYs were obtained by adding years of life lost due to premature death (YLL) and years lived with disability (YLD). RESULTS: The modeled prevalence of 5q-SMA in Colombia was 0.74 per 100,000 population. The fatality rate for all types was 14.1%. The disease burden of 5q-SMA was estimated at 4,421 DALYs (8.6 DALYs/100,000), corresponding to 4,214 (95.3%) YLLs and 207 (4.7%) YLDs. Most of the DALYs were accounted in the 2-17 age group. Of the total burden, 78% correspond to SMA type 1, 18% to type 2, and 4% to type 3. CONCLUSIONS: Although 5q-SMA is a rare disease, it is linked to a significant disease burden due to premature mortality and severe sequelae. The estimates shown in this article are important inputs to inform public policy decisions on how to ensure adequate health service provision for patients with 5q-SMA.

Predictors of autism spectrum disorder diagnosis in a spanish sample of preterm children with very low birthweight: A cross-sectional study.

Background and Aims: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a higher likelihood of being diagnosed in preterm populations. Likewise, low birthweight has also been connected with an increased likelihood of ASD. The objectives were to study the frequency and define the relationship between ASD, gestational age, birthweight, and growth percentiles for preterm children. Methods: A sample of preterm children with very low birthweight was selected from the Spanish population at 7-10 years old. Families were contacted from the hospital, and they were offered an appointment to conduct a neuropsychological assessment. The children who showed signs of ASD were referred to the diagnostic unit for differential diagnosis. Results: A total of 57 children completed full assessments, with 4 confirmed ASD diagnoses. The estimated prevalence was 7.02%. There were statistically significant weak correlations between ASD and gestational age (τb = -0.23), and birthweight (τb = -0.25), suggesting there is a higher likelihood of developing ASD for those born smaller or earlier in their gestation. Conclusion: These results could improve ASD detection and outcomes for this vulnerable population while also supporting and enhancing previous findings.

Spontaneous Primary Succession and Vascular Plant Recovery in the Iberian Gypsum Quarries: Insights for Ecological Restoration in an EU Priority Habitat.

Gypsum covers a vast area of the Iberian Peninsula, making Spain a leader in its production. Gypsum is a fundamental raw material for modern societies. However, gypsum quarries have an obvious impact on the landscape and biodiversity. Gypsum outcrops host a high percentage of endemic plants and unique vegetation, considered a priority by the EU. Restoring gypsum areas after mining is a key strategy to prevent biodiversity loss. For the implementation of restoration approaches, understanding vegetation's successional processes can be of invaluable help. To fully document the spontaneous succession in gypsum quarries and to evaluate its interest for restoration, 10 permanent plots of 20 × 50 m were proposed, with nested subplots, in which vegetation change was recorded for 13 years in Almeria (Spain). Through Species-Area Relationships (SARs), these plots' floristic changes were monitored and compared to others in which an active restoration was carried out, as well as others with natural vegetation. Furthermore, the successional pattern found was compared to those recorded in 28 quarries distributed throughout the Spanish territory. The results show that an ecological pattern of spontaneous primary auto-succession is widely recurring in Iberian gypsum quarries, which is capable of regenerating the pre-existing natural vegetation.

Cost-utility and budget impact analysis of CPAP therapy compared to no treatment in the management of moderate to severe obstructive sleep apnea in Colombia from a third-party payer perspective.

OBJECTIVES: To conduct cost-utility and budget impact analysis of providing Continuous Positive Airway Pressure (CPAP) therapy versus no treatment for moderate to severe obstructive sleep apnea (OSA) in Colombia from a third-party payer perspective. METHODS: We used a Markov model to assess the cost-utility and budget impact analysis of CPAP in patients over 40 years old with moderate to severe OSA. Data on effectiveness and utility values were obtained from published literature. A discount rate of 5% was applied for outcomes and costs. ICER was calculated and compared against the threshold estimated for Colombia, which is 86% of the GDP per capita. RESULTS: Over a lifetime horizon, the base case analysis showed the incremental cost per quality-adjusted life-years (QALYs) gained with CPAP therapy was COP$3,503,804 (USD$1,011 in 2020 prices). The budget impact analysis showed that the adoption of CPAP therapy in the target population would lead to a cumulative net budget impact of COP$411,722 million (USD$118,784,412 in, 2020 prices) over five years of time horizon. CONCLUSIONS: CPAP was cost-effective compared to no-treatment in OSA. According to the budget impact analysis, adopting this technology would require a budget allocation that is partially offset by reduced number of strokes and traffic accident events.

Carga económica de la degeneración macular neovascular y el edema macular diabético en Colombia / Economic burden of neovascular macular degeneration and diabetic macular edema in Colombia

Antecedentes: La pérdida de visión tiene consecuencias tanto en la salud como en la estabilidad económica, ya que promueve retrasos en el desarrollo emocional, social, además de reducciones en la productividad laboral. Objetivo: Estimar la carga económica de la degeneración macular asociada a la edad neovascular (DMAEn) y el edema macular diabético (EMD) en Colombia para el año 2022. Método: Para una perspectiva social se incluyeron costos directos utilizando la aproximación de Bottom-up y costos indirectos relacionados con la pérdida de productividad. Resultados: El costo directo de un paciente con DMAEn fue 5.974 USD$ desde una base teórica. A nivel nacional, la DMAEn costaría 179,9 millones USD$. Los costos indirectos de DMAEn se estimaron en 13,9 millones USD$. Los costos directos teóricos en EMD fueron 741,6 millones USD$. El costo nacional sería de 132,04 millones USD$. Para los costos indirectos de EMD, se estimó un costo de 93,3 millones USD$. Conclusiones: La DMAEn y el EMD tienen un alto impacto para el sistema de salud y la sociedad.

Background: The vision loss has consequences for both health and economic stability, since it promotes delays in emotional and social development, as well as reductions in labor productivity. Objective: To estimate the economic burden of age-related macular degeneration (AMD) and diabetic macular edema (DME) in Colombia for 2022. Method: For a social perspective, direct costs were included using the bottom-up approach, and indirect costs related to lost productivity. Results: The direct costs of treating a patient with AMD were USD $5,974 from a theoretical background. At national level, the AMD would cost USD $179.9 million. The AMD indirect cost in Colombia was estimated in USD $13.9 million. Patients theoretical direct cost of DME was USD $741.6 million. The cost at national level is USD $132.04 million. Regarding the indirect costs result for DME, a cost of USD $93.31 million was estimated. Conclusions: The AMD and the DME have a considerable impact on the health system and society.

Recent and ancient evolutionary events shaped plant elemental composition of edaphic endemics: a phylogeny-wide analysis of Iberian gypsum plants.

The analysis of plant elemental composition and the underlying factors affecting its variation are a current hot topic in ecology. Ecological adaptation to atypical soils may shift plant elemental composition. However, no previous studies have evaluated its relevance against other factors such as phylogeny, climate or individual soil conditions. We evaluated the effect of the phylogeny, environment (climate, soil), and affinity to gypsum soils on the elemental composition of 83 taxa typical of Iberian gypsum ecosystems. We used a new statistical procedure (multiple phylogenetic variance decomposition, MPVD) to decompose total explained variance by different factors across all nodes in the phylogenetic tree of target species (covering 120 million years of Angiosperm evolution). Our results highlight the relevance of phylogeny on the elemental composition of plants both at early (with the development of key preadaptive traits) and recent divergence times (diversification of the Iberian gypsum flora concurrent with Iberian gypsum deposit accumulation). Despite the predominant phylogenetic effect, plant adaptation to gypsum soils had a strong impact on the elemental composition of plants, particularly on sulphur concentrations, while climate and soil effects were smaller. Accordingly, we detected a convergent evolution of gypsum specialists from different lineages on increased sulphur and magnesium foliar concentrations.

Effect of a Focused Social and Communication Intervention on Preterm Children with ASD: A Pilot Study.

While advances in intensive neonatal care have greatly improved survival rates among preterm infants, incidence of neurodevelopmental disorders in this group is still high, with autism spectrum disorder (ASD) being one of the most frequent. To this end, we conducted a social-communication intervention aimed at investigating efficacy in social-communicative skills. Eighteen children (preterm and full-term with ASD and preterm children) aged 18 through 20 months participated in the study. Our findings indicate that most participants in the intervention groups registered significant improvements in terms of socio-communicative skills, cognitive development, and language. Accordingly, these pilot data underscore the need for further research and implementation of early interventions in young preterm children with ASD.

Damage control surgery for thoracic outlet vascular injuries: the new resuscitative median sternotomy plus REBOA.

Thoracic vascular trauma is associated with high mortality and is the second most common cause of death in patients with trauma following head injuries. Less than 25% of patients with a thoracic vascular injury arrive alive to the hospital and more than 50% die within the first 24 hours. Thoracic trauma with the involvement of the great vessels is a surgical challenge due to the complex and restricted anatomy of these structures and its association with adjacent organ damage. This article aims to delineate the experience obtained in the surgical management of thoracic vascular injuries via the creation of a practical algorithm that includes basic principles of damage control surgery. We have been able to show that the early application of a resuscitative median sternotomy together with a zone 1 resuscitative endovascular balloon occlusion of the aorta (REBOA) in hemodynamically unstable patients with thoracic outlet vascular injuries improves survival by providing rapid stabilization of central aortic pressure and serving as a bridge to hemorrhage control. Damage control surgery principles should also be implemented when indicated, followed by definitive repair once the correction of the lethal diamond has been achieved. To this end, we have developed a six-step management algorithm that illustrates the surgical care of patients with thoracic outlet vascular injuries according to the American Association of the Surgery of Trauma (AAST) classification.

El trauma vascular torácico está asociado con una alta mortalidad y es la segunda causa más común de muerte en pacientes con trauma después del trauma craneoencefálico. Se estima que menos del 25% de los pacientes con una lesión vascular torácica alcanzan a llegar con vida para recibir atención hospitalaria y más del 50% fallecen en las primeras 24 horas. El trauma torácico penetrante con compromiso de los grandes vasos es un problema quirúrgico dado a su severidad y la asociación con lesiones a órganos adyacentes. El objetivo de este artículo es presentar la experiencia en el manejo quirúrgico de las lesiones del opérculo torácico con la creación de un algoritmo de manejo quirúrgico en seis pasos prácticos de seguir basados en la clasificación de la AAST. que incluye los principios básicos del control de daños. La esternotomía mediana de resucitación junto con la colocación de un balón de resucitación de oclusión aortica (Resuscitative Endovascular Balloon Occlusion of the Aorta - REBOA) en zona 1 permiten un control primario de la hemorragia y mejoran la sobrevida de los pacientes con trauma del opérculo torácico e inestabilidad hemodinámica.

Primary repair: damage control surgery in esophageal trauma.

Esophageal trauma is a rare but life-threatening event associated with high morbidity and mortality. An inadvertent esophageal perforation can rapidly contaminate the neck, mediastinum, pleural space, or abdominal cavity, resulting in sepsis or septic shock. Higher complications and mortality rates are commonly associated with adjacent organ injuries and/or delays in diagnosis or definitive management. This article aims to delineate the experience obtained by the Trauma and Emergency Surgery Group (CTE) of Cali, Colombia, on the surgical management of esophageal trauma following damage control principles. Esophageal injuries should always be suspected in thoracoabdominal or cervical trauma when the trajectory or mechanism suggests so. Hemodynamically stable patients should be radiologically evaluated before a surgical correction, ideally with computed tomography of the neck, chest, and abdomen. While hemodynamically unstable patients should be immediately transferred to the operating room for direct surgical control. A primary repair is the surgical management of choice in all esophageal injuries, along with endoscopic nasogastric tube placement and immediate postoperative care in the intensive care unit. We propose an easy-to-follow surgical management algorithm that sticks to the philosophy of "Less is Better" by avoiding esophagostomas.

El trauma esofágico es un evento poco frecuente pero potencialmente mortal. Una perforación esofágica inadvertida puede ocasionar la rápida contaminación del cuello, el mediastino, el espacio pleural o la cavidad abdominal, lo cual puede resultar en sepsis o choque séptico. Las complicaciones y la mortalidad aumentan con el retraso en el diagnóstico o manejo definitivo, y la presencia de lesiones asociadas. El objetivo del presente artículo es describir la experiencia adquirida por el grupo de cirugía de Trauma y Emergencias (CTE) de Cali, Colombia en el manejo del trauma de esófago de acuerdo con los principios de la cirugía de control de daños. Las lesiones esofágicas deben sospecharse en todo trauma toraco-abdominal o cervical en el que el mecanismo o la trayectoria de la lesión lo sugieran. El paciente hemodinámicamente estable se debe estudiar con imágenes diagnósticas antes de la corrección quirúrgica del defecto, idealmente por medio de tomografía computarizada del cuello, tórax y abdomen con contraste endovenoso. Mientras que en el paciente hemodinámicamente inestable se debe explorar y controlar la lesión. El reparo primario es el manejo quirúrgico de elección, con la previa colocación de una sonda nasogástrica y el seguimiento postoperatorio estricto en la unidad de cuidado intensivo. Se propone un algoritmo de manejo quirúrgico que resulta fácil de seguir y adopta la premisa "Menos es Mejor" evitando realizar derivaciones esofágicas.