An assessment of the owned canine and feline demographics in Chile: registration, sterilization, and unsupervised roaming indicators.

The global rise in companion animal populations, particularly dogs and cats, is driven by emotional and social benefits for owners, and their population management is becoming critically important to avoid a plethora of adverse effects on themselves, humans, and wildlife. We estimated the size and density of the owned canine and feline population in Chile and evaluated the status of microchipping, registration, sterilization rates, and the proportion of owned animals that roam unsupervised. A cross-sectional household survey in 36 districts was conducted and standard inferential statistics was employed to analyze differences between cats and dogs, sexes within each species, and between rural and urban areas. Additionally, two negative binomial models with mixed effects were developed to predict the number of dogs and cats per households. Two methods were used to compare population size estimates at the country level, multiplying: (1) the estimated mean number of companion animals per household by the estimated number of households at the country level, and (2) the estimated human:dog and human:cat ratios by the total human population. The study involved 6333 respondents, of which 76% (74% urban; 83% rural) owned companion animals (dogs and/or cats). Individuals in rural multi-person households increase the probability of owning dogs and/or cats. Additionally, women exhibit a greater inclination towards cat and dog ownership compared to men, while those over 30 years old demonstrate lower rates of companion animal ownership in contrast to the 18-30 age group for both species. The overall human:dog and human:cat ratios estimated were 2.7:1, and 6.2:1, respectively. The estimated total number of owned dogs and cats in Chile ranged from 9.6 to 10.7 million, depending on the methodological approach, while national median density of companion animals was 12 dogs per km2 (ranging from 0.02 to 7232) and 5 cats per km2 (ranging from 0.01 to 3242). This nationwide study showed one of the highest percentages of households with companion animals in Latin America and relatively low registration and sterilization rates, highlighting the need to strength long-term public policies to control populations of companion animals and promote responsibility in pet ownership.

Environmental DNA reveals temporal variation in mesophotic reefs of the Humboldt upwelling ecosystems of central Chile: Toward a baseline for biodiversity monitoring of unexplored marine habitats.

Temperate mesophotic reef ecosystems (TMREs) are among the least known marine habitats. Information on their diversity and ecology is geographically and temporally scarce, especially in highly productive large upwelling ecosystems. Lack of information remains an obstacle to understanding the importance of TMREs as habitats, biodiversity reservoirs and their connections with better-studied shallow reefs. Here, we use environmental DNA (eDNA) from water samples to characterize the community composition of TMREs on the central Chilean coast, generating the first baseline for monitoring the biodiversity of these habitats. We analyzed samples from two depths (30 and 60 m) over four seasons (spring, summer, autumn, and winter) and at two locations approximately 16 km apart. We used a panel of three metabarcodes, two that target all eukaryotes (18S rRNA and mitochondrial COI) and one specifically targeting fishes (16S rRNA). All panels combined encompassed eDNA assigned to 42 phyla, 90 classes, 237 orders, and 402 families. The highest family richness was found for the phyla Arthropoda, Bacillariophyta, and Chordata. Overall, family richness was similar between depths but decreased during summer, a pattern consistent at both locations. Our results indicate that the structure (composition) of the mesophotic communities varied predominantly with seasons. We analyzed further the better-resolved fish assemblage and compared eDNA with other visual methods at the same locations and depths. We recovered eDNA from 19 genera of fish, six of these have also been observed on towed underwater videos, while 13 were unique to eDNA. We discuss the potential drivers of seasonal differences in community composition and richness. Our results suggest that eDNA can provide valuable insights for monitoring TMRE communities but highlight the necessity of completing reference DNA databases available for this region.

Resilience to structural and molecular changes in excitatory synapses in the hippocampus contributes to cognitive function recovery in Tg2576 mice.

JOURNAL/nrgr/04.03/01300535-202409000-00040/figure1/v/2024-01-16T170235Z/r/image-tiff Plaques of amyloid-ß (Aß) and neurofibrillary tangles are the main pathological characteristics of Alzheimer's disease (AD). However, some older adult people with AD pathological hallmarks can retain cognitive function. Unraveling the factors that lead to this cognitive resilience to AD offers promising prospects for identifying new therapeutic targets. Our hypothesis focuses on the contribution of resilience to changes in excitatory synapses at the structural and molecular levels, which may underlie healthy cognitive performance in aged AD animals. Utilizing the Morris Water Maze test, we selected resilient (asymptomatic) and cognitively impaired aged Tg2576 mice. While the enzyme-linked immunosorbent assay showed similar levels of Aß42 in both experimental groups, western blot analysis revealed differences in tau pathology in the pre-synaptic supernatant fraction. To further investigate the density of synapses in the hippocampus of 16-18 month-old Tg2576 mice, we employed stereological and electron microscopic methods. Our findings indicated a decrease in the density of excitatory synapses in the stratum radiatum of the hippocampal CA1 in cognitively impaired Tg2576 mice compared with age-matched resilient Tg2576 and non-transgenic controls. Intriguingly, through quantitative immunoelectron microscopy in the hippocampus of impaired and resilient Tg2576 transgenic AD mice, we uncovered differences in the subcellular localization of glutamate receptors. Specifically, the density of GluA1, GluA2/3, and mGlu5 in spines and dendritic shafts of CA1 pyramidal cells in impaired Tg2576 mice was significantly reduced compared with age-matched resilient Tg2576 and non-transgenic controls. Notably, the density of GluA2/3 in resilient Tg2576 mice was significantly increased in spines but not in dendritic shafts compared with impaired Tg2576 and non-transgenic mice. These subcellular findings strongly support the hypothesis that dendritic spine plasticity and synaptic machinery in the hippocampus play crucial roles in the mechanisms of cognitive resilience in Tg2576 mice.

A cross-sectional study on stool- and gastrointestinal-related outcomes of Mexican infants consuming different formulae.

BACKGROUND: Immaturities present at birth, such as in the gut microbiome and digestive, nervous, and immune system, resolve with time. Nevertheless, this may result in mild digestive symptoms early in life, particularly in formula-fed infants. Formula composition and processing may impact this discomfort. This study therefore aimed to assess stool characteristics and gastrointestinal symptoms of healthy infants fed different formulae. METHODS: A multicenter, cross-sectional, observational trial was performed in Mexico between November 2019 and January 2022, where exclusively formula-fed infants (n = 342, aged 1-4 months) were studied in four groups based on their existing formula use. Feeding was continued per practice following label instructions. For 7 days, parents/caregivers were requested to record fecal characteristics, using the Amsterdam Infant Stool Scale, and rate gastrointestinal symptoms. Stool samples were collected to determine pH, dry matter content, and fecal calprotectin levels. RESULTS: Most infants had a soft/formed stool consistency, although odds for hard stools were different between groups. Gastrointestinal symptom scores revealed significant differences for burping and diarrhea, while other symptoms did not differ between groups. No significant differences between groups were found for stool frequency, dry matter content, and fecal pH. Although calprotectin was within the expected healthy ranges, significant differences among groups were seen. Furthermore, calprotectin significantly correlated with the severity of the gastrointestinal symptoms burping, flatulence, abdominal distension, and diarrhea. CONCLUSIONS: Differences in stool characteristics and specific differences in gastrointestinal symptoms were observed between different formula brand users. This may potentially be explained by the different composition and processing of the formulae, although there are multiple factors that influence the assessed outcomes. TRIAL REGISTRATION: The study was registered in the Netherlands Trial Registry (NL7805), linked to https://trialsearch.who.int/ , on 11/06/2019.

Prognostic Implications of High-Degree Atrio-Ventricular Block in Patients with Acute Myocardial Infarction in the Contemporary Era.

BACKGROUND: High-degree atrioventricular block (HAVB) is a known complication of ST-segment elevation myocardial infarction (STEMI). We aimed to determine the prevalence and prognostic impact of HAVB in a contemporary cohort of STEMI. METHODS: Data were collected from the DIAMANTE registry that included STEMI patients admitted to our cardiac intensive care unit treated with urgent reperfusion. We studied the clinical characteristics and evolution in patients with and without HAVB at admission. RESULTS: From 1109 consecutive patients, HAVB was documented in 95 (8.6%). The right coronary artery was the culprit vessel in 84 patients with HAVB (88.4%). The independent predictors of HAVB were: male sex (OR 1.9, 95% CI 1.2-2.9), age (OR 1.03, 95% CI 1.01-1.05), involvement of right coronary artery (OR 12.4, 95% CI 7.6-20.2), and creatinine value (OR 1.5, 95% CI 1.1-2.0). A transient percutaneous pacemaker was used in 37 patients with HAVB (38.9%). Patients with HAVB had higher mortality that patients without HAVB (15.8% vs. 4.1%, p < 0.001); however, in multivariate analysis, HAVB was not an independent predictor of in-hospital mortality. CONCLUSIONS: HAVB was seen in 9% of STEMI patients and was particularly frequent in elderly males with renal failure. Patients with HAVB had a poor prognosis during hospitalization, but HAVB was not an independent predictor of in-hospital mortality.

Nosocomial Infections in Adult Patients Supported by Extracorporeal Membrane Oxygenation in a Cardiac Intensive Care Unit.

The use of venoarterial (VA) extracorporeal membrane oxygenation therapy (ECMO) in patients admitted to cardiac intensive care units (CICU) has increased. Data regarding infections in this population are scarce. In this retrospective study, we analyzed the risk factors, outcome, and predictors of in-hospital mortality due to nosocomial infections in patients with ECMO admitted to a single coronary intensive care unit between July 2013 and March 2019 treated with VA-ECMO for >48 h. From 69 patients treated with VA-ECMO >48 h, (median age 58 years), 29 (42.0%) patients developed 34 episodes of infections with an infection rate of 0.92/1000 ECMO days. The most frequent were ventilator-associated pneumonia (57.6%), tracheobronchitis (9.1%), bloodstream infections (9.1%), skin and soft tissue infections (9.1%), and cytomegalovirus reactivation (9.1%). In-hospital mortality was 47.8%, but no association with nosocomial infections was found (p = 0.75). The number of days on ECMO (OR 1.14, 95% CI 1.01-1.30, p = 0.029) and noninfectious complications were higher in the infected patients (OR: 3.8 95% CI = 1.05-14.1). A higher baseline creatinine value (OR: 8.2 95% CI = 1.12-60.2) and higher blood lactate level at 4 h after ECMO initiation (OR: 2.0 95% CI = 1.23-3.29) were significant and independent risk factors for mortality. Conclusions: Nosocomial infections in medical patients treated with VA-ECMO are very frequent, mostly Gram-negative respiratory infections. Preventive measures could play an important role for these patients.

Preventive healthcare among dogs and cats in Chile is positively associated with emotional owner-companion animal bond and socioeconomic factors.

Global companion animal population has been increasing as well as the number of dogs and cats being considered as a family member. However, it is unclear whether this close relationship could be associated with higher preventive healthcare in companion animals. Using data from 7,048 questionnaires of dogs and 3,271 of cats from the First National Study on Responsible Companion Animal Ownership, we estimated the proportion of preventive healthcare in companion animals of Chile. We also conducted a general linear mixed-effect regression model to identify socioeconomic factors and indicators of the emotional owners-companion animal bond that could influence owners' practices related to vaccination, parasite control, and veterinary visits. Based on the owner's answers, Chile has a satisfactory overall rates of parasite control (71%) and annual veterinary visits (65%) but a low vaccination coverage of both dogs (39%) and cats (25%). 'Purebred', 'live in urban areas', 'acquired by monetary compensation', and 'dog species' were associated with a higher probability of preventive healthcare in companion animals. Conversely, this probability was lower among senior animals compared to adults, males, and those owned by the Silent Generation or Baby Boomers (i.e., owners born before 1964). 'Sleeping inside', 'acquired for an emotional reason' (e.g., companionship), and 'considered a family member' were positively associated with at least one of assessed preventive measures. Our findings suggest that emotional owner-companion animal bonds could positively impact the frequency and quality of preventive healthcare in dogs and cats. However, owners who totally disagreed that a companion animal is a "family member" were also associated with a higher likelihood of vaccination uptake and veterinary visits for their animals. This highlights that owner's compliance with veterinary preventive healthcare is multifactorial. Chile has a high prevalence of infectious diseases circulating among dogs and cats and increasingly close contacts between owners and companion animals due to emotional bonds. Thus, our study calls for One Health approaches to reduce the risks of cross-species disease transmission. Specifically, increasing vaccination coverage of companion animals in Chile is the most urgent preventive measure needed, especially among cats, males, and older animals. Expand preventive healthcare among dogs and cats will promote public and animal health, including local wildlife that is susceptible to infectious diseases circulating in companion animals.

Off-Hours versus Regular-Hours Implantation of Peripheral Venoarterial Extracorporeal Membrane Oxygenation in Patients with Cardiogenic Shock.

BACKGROUND: The "weekend effect" has been associated with worse clinical outcomes. Our aim was to compare off-hours vs. regular-hours peripheral venoarterial extracorporeal membrane oxygenation (VA-ECMO) in cardiogenic shock patients. METHODS: We analyzed in-hospital and 90-day mortality among 147 consecutive patients treated with percutaneous VA-ECMO for medical reasons between July 1, 2013, and September 30, 2022, during regular-hours (weekdays 8:00 a.m.-10:00 p.m.) and off-hours (weekdays 10:01 p.m.-7:59 a.m., weekends, and holidays). RESULTS: The median patient age was 56 years (interquartile range [IQR] 49-64 years) and 112 (72.6%) were men. The median lactate level was 9.6 mmol/L (IQR 6.2-14.8 mmol/L) and 136 patients (92.5%) had a Society for Cardiovascular Angiography and Interventions (SCAI) stage D or E. Cannulation was performed off-hours in 67 patients (45.6%). In-hospital mortality was similar in off-hours and regular hours (55.2% vs. 56.3%, p = 0.901), as was the 90-day mortality (58.2% vs. 57.5%, p = 0.963), length of hospital stay (31 days [IQR 16-65.8 days] vs. 32 days [IQR 18-63 days], p = 0.979), and VA-ECMO related complications (77.6% vs. 70.0%, p = 0.305). CONCLUSIONS: Off-hours and regular-hours percutaneous VA-ECMO implantation in cardiogenic shock of medical cause have similar results. Our results support well-designed 24/7 VA-ECMO implantation programs for cardiogenic shock patients.

Stereotactic body radiation therapy in the treatment of cancer patients with oligometastatic disease: a real world study

Purpose Stereotactic body radiation therapy (SBRT) is a treatment modality with curative intent for oligometastatic cancer patients, commonly defined by a low-burden metastatic disease with 1–5 systemic metastases. Better knowledge of the clinical profile and prognostic factors in oligometastatic cancer patients could help to improve the selection of candidates who may obtain most benefits from SBRT. The objective of this study was to describe the clinical data and outcome in term of overall survival (OS) of patients with oligometastatic disease treated with SBRT over a 6-year period. Methods From 2013 to 2018, 284 solid tumor cancer patients with 1–5 oligometastases underwent SBRT at a large university-affiliated oncological center in Barcelona, Spain. Variables related to the patient profile, tumor, oligometastatic disease, and treatment were evaluated. Results A total of 327 metastatic tumors were treated with SBRT. In 65.5% of cases, metachronous tumors were diagnosed at least 1 year after diagnosis of the primary tumor. The median age of the patients was 73.9 years and 66.5% were males. The median follow-up was 37.5 months. The most common primary tumors were lung and colorectal cancer, with lung and bone as the most commonly treated metastatic sites. Ninety-three percent of patients showed a Karnofsky score (KPS) between 80 and 100. Adenocarcinoma was the most common histological type. The median overall survival was 53.4 months, with 1-, 2- and 5-year survival rates of 90.5%, 73.9% and 43.4%, respectively. Overall survival rates of breast (67.6 months, 95% CI 56.4–78.9), urological (63.3 months, 95% CI 55.8–70.8), and colorectal (50.8 months, 95% CI 44.2–57.4) tumors were higher as compared with other malignancies (20 months, 95% CI 11.2–28.8 months) (p < 0.001) (AU)

Identification of Secondary Prevention Patients Eligible for PCSK9 Inhibitors Therapy According to the Routine Clinical Practice in Spain.

INTRODUCTION: Many patients at very high risk of cardiovascular (CV) events would benefit from lipid-lowering therapies (LLT) intensification to decrease their risk. This study aimed to identify the real-world secondary prevention patients potentially eligible for proprotein convertase subtilisin-kexin type 9 inhibitors (PCSK9i) in Spain. METHODS: This retrospective cohort study included adult patients registered in the IQVIA Spanish Electronic Medical Records outpatient database (2014-2020), diagnosed with myocardial infarction (MI), unstable angina (UA), ischaemic stroke (IS), transient ischaemic attack (TIA) or peripheral artery disease (PAD) and with ≥ 1 low-density lipoprotein cholesterol (LDL-C) or total cholesterol measurements. Longitudinal data were collected from the initial diagnosis to the end of the study period or follow-up loss. RESULTS: The study included 9516 patients, 63.9% male, mean (SD) age 67.7 (12.5) years and mean LDL-C 117.3 (38.8) mg/dL. MI, IS and PAD were the most severe events reported during the study period (28.5%, 18.7% and 29.3% of patients, respectively). At the time of last available LDL-C assessment (≥ 3 months post-event), 64.4% patients were on LLT. Of those, 45.4%, 46.9% and 7.7% were on high-, moderate- and low-intensity LLT. Overall, 9.6% patients achieved LDL-C < 55 mg/dL (24.2% LDL-C < 70 mg/dL). Furthermore, 17.9% patients receiving optimized oral LLT showed LDL-C > 100 mg/dL (LDL-C reimbursement threshold for PCSK9i in Spain). CONCLUSION: Up to 82% of patients with atherosclerotic CV disease do not achieve LDL-C levels recommended by the 2019 ESC/EAS guidelines despite being on optimized oral LLT therapy. In 17.9% of these patients LDL-C levels exceed 100 mg/dL, being eligible for PCSK9i in Spain.

Stressors and uplifts of confinement due to covid-19: A longitudinal study on mental health in a sample of academic and administrative university staff in Spain.

The rapid spread of COVID-19 caused many countries to decide to enter full lockdown, a circumstance that impacted all aspects of life, including mental health. The present longitudinal study aimed to analyse how stressors and uplifts of confinement were linked to psychological symptoms at three different time points: during the full lockdown (wave 1), after the gradual lifting of restrictions (wave 2) and after confinement (wave 3). The sample was made up by one hundred and twenty academic and administrative staff from a big University in Spain, they all completed an online survey. Results showed that psychological status did not change over time, but a significant interindividual variability was found throughout. Some stressors were only linked to symptoms at wave 1, but others maintained their associations during waves 2 and 3. Uplifts were, for the most part, inversely (and exclusively) linked to symptoms at wave 1. However, some of them, although enjoyable, were paradoxically linked to worse mental health at wave 1, and even at waves 2 and 3. These findings highlight the importance of providing preventive psychological strategies for mental distress before, during and after confinement.

Stereotactic body radiation therapy in the treatment of cancer patients with oligometastatic disease: a real world study.

PURPOSE: Stereotactic body radiation therapy (SBRT) is a treatment modality with curative intent for oligometastatic cancer patients, commonly defined by a low-burden metastatic disease with 1-5 systemic metastases. Better knowledge of the clinical profile and prognostic factors in oligometastatic cancer patients could help to improve the selection of candidates who may obtain most benefits from SBRT. The objective of this study was to describe the clinical data and outcome in term of overall survival (OS) of patients with oligometastatic disease treated with SBRT over a 6-year period. METHODS: From 2013 to 2018, 284 solid tumor cancer patients with 1-5 oligometastases underwent SBRT at a large university-affiliated oncological center in Barcelona, Spain. Variables related to the patient profile, tumor, oligometastatic disease, and treatment were evaluated. RESULTS: A total of 327 metastatic tumors were treated with SBRT. In 65.5% of cases, metachronous tumors were diagnosed at least 1 year after diagnosis of the primary tumor. The median age of the patients was 73.9 years and 66.5% were males. The median follow-up was 37.5 months. The most common primary tumors were lung and colorectal cancer, with lung and bone as the most commonly treated metastatic sites. Ninety-three percent of patients showed a Karnofsky score (KPS) between 80 and 100. Adenocarcinoma was the most common histological type. The median overall survival was 53.4 months, with 1-, 2- and 5-year survival rates of 90.5%, 73.9% and 43.4%, respectively. Overall survival rates of breast (67.6 months, 95% CI 56.4-78.9), urological (63.3 months, 95% CI 55.8-70.8), and colorectal (50.8 months, 95% CI 44.2-57.4) tumors were higher as compared with other malignancies (20 months, 95% CI 11.2-28.8 months) (p < 0.001). Patients with Karnofsky score (KPS) of 90 and 100 showed a significantly better survival than those with impaired performance status (p = 0.001). CONCLUSION: SBRT appears to be well tolerated and safe approach in oligometastatic patients. Patients with good performance status and with primary breast, urological and colorectal cancer have higher OS compared with other malignancies. More studies are necessary to evaluate the prognostic factors in oligometastatic disease (OMD) in order to select patients who could benefit more from this therapeutic approach.

The use of two Comfort Young Child Formulas in the dietary management of toddlers with functional constipation: a randomized controlled trial.

BACKGROUND: Pharmacological intervention with laxatives is the conventional treatment for functional constipation (FC). Data to support the dietary management of FC is lacking. This study compared the efficacy of two Comfort young child formulas (YCFs) with regards to the maintenance of healthy stooling parameters in toddlers with a history of constipation. It was registered in the Netherlands Trial Registry [identifier: NL7420 (NTR7653)], registration date 20/09/2018. METHODS: Ninety-five healthy toddlers, aged 12 to 32 months, diagnosed with FC (Rome III criteria) were randomized to receive one of two study formulas after pharmacological treatment. For the first month of the intervention, subjects received a laxative in a decreasing maintenance dose alongside a test or control formula (maintenance phase). Subsequently, subjects only consumed formula for another month (post-maintenance phase). Stooling parameters were obtained weekly using the Bristol Stool Scale and the modified Rome III Questionnaire on Paediatric Gastrointestinal Symptoms for infants and toddlers. Differences in percentages of hard stools (primary outcome) and other stooling parameters were analysed using analysis of covariance and Chi-Square methods. RESULTS: Both formulas resulted in similar overall percentage of hard stools during the intervention period, respectively 5.02% in the test and 2.99% in the control group (n.s.). In the test group, percentages dropped from 7.11% at the end of the maintenance phase, to 3.92% at the end of the post-maintenance phase. In contrast, the percentage of hard stools in the control group was similar at the end of the maintenance (3.18%) and post-maintenance phase (2.83%; n.s.). No difference was found in the overall stool frequency between groups. At the end of the maintenance phase, only 22% and 19% of toddlers consuming the test and control formulae, respectively, met 2 or more of the criteria for FC. At the end of the study, this percentage of subjects decreased further to 9% in the test group, which tended to be lower compared to the 21% found in the control (p = 0.107). No laxative use was reported in either study group during the post-maintenance phase. CONCLUSION: Both Comfort YCF support the maintenance of improved stooling over time in toddlers with a history of constipation. The percentage of subjects suffering from functional constipation tended to be lower after the intervention period when receiving the formula with intact protein.

Graphene based composite membranes for environmental toxicology remediation, critical approach towards environmental management.

Graphene-based composite membranes, as laminated, stacked, and assembled architectures of graphene, have surpassed other conventional membranes with their advanced and preeminent structural specialization and potential use in a wide range of sustainable and environmental applications. The characteristic membrane features such as distinct laminar morphology, tailored physicochemical properties, as well as extraordinary molecular properties have fascinated scientists. Due to remarkable mechanical properties, these membranes can be easily fabricated. Recent progress has been achieved by graphene and its derivatives-based membranes to purify water and gases for environmental remediation. This review explained the latest and groundbreaking advances in chemical design, fabrication, and application of graphene-based membranes. Special attention is paid to the recent developments on graphene-based composites into membranes with various forms: free-standing, layered, and graphene-based nanocomposite membranes. Furthermore, a unique approach on environmental management with as-fabricated membranes is provided by discussing the effect of physicochemical properties. Consequently, their full-scale use for environmental management, water purification, gas purification, and biological treatments will pave the way for their promising features and realize their future prospects.

A family study implicates GBE1 in the etiology of autism spectrum disorder.

Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothesized that molecular genetic analysis of large multiplex families would enable the identification of variants of milder effects. We studied a large multigenerational family of European ancestry with multiple family members affected with ASD or the broader autism phenotype (BAP). We identified a rare heterozygous variant in the gene encoding 1,4-ɑ-glucan branching enzyme 1 (GBE1) that was present in seven of seven individuals with ASD, nine of ten individuals with the BAP, and none of four tested unaffected individuals. We genotyped a community-acquired cohort of 389 individuals with ASD and identified three additional probands. Cascade analysis demonstrated that the variant was present in 11 of 13 individuals with familial ASD/BAP and neither of the two tested unaffected individuals in these three families, also of European ancestry. The variant was not enriched in the combined UK10K ASD cohorts of European ancestry but heterozygous GBE1 deletion was overrepresented in large ASD cohorts, collectively suggesting an association between GBE1 and ASD.