Bayesian spatio-temporal models for mapping TB mortality risk and its relationship with social inequities in a region from Brazilian Legal Amazon

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Mite community composition across a European transect and its relationships to variation in other components of soil biodiversity

The sustainable use of soils requires the protection of soil biodiversity because of its importance in the delivery of ecosystems services. However, no effective indicator exists which would allow assessment of the current state of biodiversity and is sensitive to change. This study, which is a component of the EcoFINDERS project, examines the use of mites (Acari) as a possible biological indicator of soil community composition. Thirty-six sites were sampled across 10 European countries spanning four bio-climatic zones (Alpine, Atlantic, Continental and Mediterranean) and 3 land uses (arable, grassland and forestry) for both biotic and abiotic variables. Results show a significant effect of bio-climatic zone on mite communities; in particular, the Mediterranean region had a rather distinct composition. Land use type significantly affected mite community composition and there was a distinct association with forestry. Cross-taxon congruence among soil taxa was variable and generally weak. Procrustes analysis showed that there was little similarity between the patterns of variation in mite community composition and those of other taxonomic groups (Collembola, Enchytraeidae, Nematoda and microbes). Mite and Collembola communities had the strongest correlation ( r= 0.4316, p</p

Identification and characterization of Diaporthe spp. associated with twig cankers and shoot blight of almonds in Spain

[EN] Two hundred and twenty-fiveDiaportheisolates were collected from 2005 to 2019 in almond orchards showing twig cankers and shoot blight symptoms in five different regions across Spain. Multilocus DNA sequence analysis with five loci (ITS,tub,tef-1 alpha,calandhis), allowed the identification of four knownDiaporthespecies, namely:D. amygdali,D. eres,D. foeniculinaandD. phaseolorum. Moreover, a novel phylogenetic species,D. mediterranea, was described.Diaportheamygdaliwas the most prevalent species, due to the largest number of isolates (85.3%) obtained from all sampled regions. The second most frequent species wasD. foeniculina(10.2%), followed byD. mediterranea(3.6%),D.eresandD. phaseolorum, each with only one isolate. Pathogenicity tests were performed using one-year-old almond twigs cv. Vayro and representative isolates of the different species. Except forD. foeniculinaandD. phaseolorum, allDiaporthespecies were able to cause lesions significantly different from those developed on the uninoculated controls.Diaporthe mediterraneacaused the most severe symptoms. These results confirmD. amygdalias a key pathogen of almonds in Spain. Moreover, the new species,D. mediterranea, should also be considered as a potential important causal agent of twig cankers and shoot blight on this crop.Research funded by the Instituto Nacional de Investigacion y Tecnologia Agraria y Alimentaria (INIA), grants RTA2017-00009-C04-01, -02, -03 and -04 and with matching funds from the European Regional Development Fund (ERDF). G. Elena and C. Agusti-Brisach were supported by the Spanish post-doctoral grants "Juan de la Cierva-Formacion" and "Juan de la Cierva-Incorporacion", respectively. J. Luque and X. Miarnau were partially supported by the CERCA program, Generalitat de Catalunya. D. Gramaje was supported by the Ramon y Cajal program, Spanish Government (RYC-2017-23098).León Santana, M.; Berbegal Martinez, M.; Rodríguez-Reina, JM.; Elena, G.; Abad Campos, P.; Ramón-Albalat, A.; Olmo, D.... (2020). Identification and characterization of Diaporthe spp. associated with twig cankers and shoot blight of almonds in Spain. Agronomy. 10(8):1-23. https://doi.org/10.3390/agronomy10081062S123108Food and Agriculture Organization of the United Nationshttp://www.fao.org/faostat/es/#datDiogo, E. L. F., Santos, J. M., & Phillips, A. J. L. (2010). Phylogeny, morphology and pathogenicity of Diaporthe and Phomopsis species on almond in Portugal. Fungal Diversity, 44(1), 107-115. doi:10.1007/s13225-010-0057-xTuset, J. J., & Portilla, M. A. T. (1989). Taxonomic status of Fusicoccum amygdali and Phomopsis amygdalina. Canadian Journal of Botany, 67(5), 1275-1280. doi:10.1139/b89-168TUSET, J. J., HINAREJOS, C., & PORTILLA, M. T. (1997). Incidence of Phomopsis amygdali, Botryosphaeria berengeriana and Valsa cincta diseases in almond under different control strategies. EPPO Bulletin, 27(4), 449-454. doi:10.1111/j.1365-2338.1997.tb00664.xUdayanga, D., Liu, X., Crous, P. W., McKenzie, E. H. C., Chukeatirote, E., & Hyde, K. D. (2012). A multi-locus phylogenetic evaluation of Diaporthe (Phomopsis). Fungal Diversity, 56(1), 157-171. doi:10.1007/s13225-012-0190-9Rossman, A. Y., Adams, G. C., Cannon, P. F., Castlebury, L. A., Crous, P. W., Gryzenhout, M., … Walker, D. M. (2015). Recommendations of generic names in Diaporthales competing for protection or use. IMA Fungus, 6(1), 145-154. doi:10.5598/imafungus.2015.06.01.09Gomes, R. R., Glienke, C., Videira, S. I. R., Lombard, L., Groenewald, J. Z., & Crous, P. W. (2013). Diaporthe: a genus of endophytic, saprobic and plant pathogenic fungi. Persoonia - Molecular Phylogeny and Evolution of Fungi, 31(1), 1-41. doi:10.3767/003158513x666844Gao, Y., Liu, F., Duan, W., Crous, P. W., & Cai, L. (2017). Diaporthe is paraphyletic. IMA Fungus, 8(1), 153-187. doi:10.5598/imafungus.2017.08.01.11Dissanayake, A. (2017). The current status of species in Diaporthe. Mycosphere, 8(5), 1106-1156. doi:10.5943/mycosphere/8/5/5Santos, L., Alves, A., & Alves, R. (2017). Evaluating multi-locus phylogenies for species boundaries determination in the genusDiaporthe. PeerJ, 5, e3120. doi:10.7717/peerj.3120Lawrence, D. P., Travadon, R., & Baumgartner, K. (2015). Diversity of Diaporthe species associated with wood cankers of fruit and nut crops in northern California. Mycologia, 107(5), 926-940. doi:10.3852/14-353Gramaje, D., Agustí-Brisach, C., Pérez-Sierra, A., Moralejo, E., Olmo, D., Mostert, L., … Armengol, J. (2012). Fungal trunk pathogens associated with wood decay of almond trees on Mallorca (Spain). Persoonia - Molecular Phylogeny and Evolution of Fungi, 28(1), 1-13. doi:10.3767/003158512x626155GARDES, M., & BRUNS, T. D. (1993). ITS primers with enhanced specificity for basidiomycetes - application to the identification of mycorrhizae and rusts. Molecular Ecology, 2(2), 113-118. doi:10.1111/j.1365-294x.1993.tb00005.xTravadon, R., Lawrence, D. P., Rooney-Latham, S., Gubler, W. D., Wilcox, W. F., Rolshausen, P. E., & Baumgartner, K. (2015). Cadophora species associated with wood-decay of grapevine in North America. Fungal Biology, 119(1), 53-66. doi:10.1016/j.funbio.2014.11.002O’Donnell, K., & Cigelnik, E. (1997). Two Divergent Intragenomic rDNA ITS2 Types within a Monophyletic Lineage of the FungusFusariumAre Nonorthologous. Molecular Phylogenetics and Evolution, 7(1), 103-116. doi:10.1006/mpev.1996.0376Glass, N. L., & Donaldson, G. C. (1995). Development of primer sets designed for use with the PCR to amplify conserved genes from filamentous ascomycetes. Applied and Environmental Microbiology, 61(4), 1323-1330. doi:10.1128/aem.61.4.1323-1330.1995Weir, B. S., Johnston, P. R., & Damm, U. (2012). The Colletotrichum gloeosporioides species complex. Studies in Mycology, 73, 115-180. doi:10.3114/sim0011Udayanga, D., Castlebury, L. A., Rossman, A. Y., & Hyde, K. D. (2014). Species limits in Diaporthe: molecular re-assessment of D. citri, D. cytosporella, D. foeniculina and D. rudis. Persoonia - Molecular Phylogeny and Evolution of Fungi, 32(1), 83-101. doi:10.3767/003158514x679984Thompson, J. D., Higgins, D. G., & Gibson, T. J. (1994). CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Research, 22(22), 4673-4680. doi:10.1093/nar/22.22.4673Kumar, S., Stecher, G., Li, M., Knyaz, C., & Tamura, K. (2018). MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms. Molecular Biology and Evolution, 35(6), 1547-1549. doi:10.1093/molbev/msy096Vaidya, G., Lohman, D. J., & Meier, R. (2011). SequenceMatrix: concatenation software for the fast assembly of multi-gene datasets with character set and codon information. Cladistics, 27(2), 171-180. doi:10.1111/j.1096-0031.2010.00329.xRonquist, F., Teslenko, M., van der Mark, P., Ayres, D. L., Darling, A., Höhna, S., … Huelsenbeck, J. P. (2012). MrBayes 3.2: Efficient Bayesian Phylogenetic Inference and Model Choice Across a Large Model Space. Systematic Biology, 61(3), 539-542. doi:10.1093/sysbio/sys029Stamatakis, A. (2014). RAxML version 8: a tool for phylogenetic analysis and post-analysis of large phylogenies. Bioinformatics, 30(9), 1312-1313. doi:10.1093/bioinformatics/btu033Felsenstein, J. (1985). CONFIDENCE LIMITS ON PHYLOGENIES: AN APPROACH USING THE BOOTSTRAP. Evolution, 39(4), 783-791. doi:10.1111/j.1558-5646.1985.tb00420.xDuthie, J. A. (1997). Models of the Response of Foliar Parasites to the Combined Effects of Temperature and Duration of Wetness. Phytopathology®, 87(11), 1088-1095. doi:10.1094/phyto.1997.87.11.1088Agricolae: Statistical Procedures for Agricultural Research. R Package Version 1.2-3http://CRAN.R-project.org/package=agricolaeVan Niekerk, J. M., Groenewald, J. Z., Farr, D. F., Fourie, P. H., Halleen, F., & Crous, P. W. (2005). Reassessment ofPhomopsisspecies on grapevines. Australasian Plant Pathology, 34(1), 27. doi:10.1071/ap04072Lesuthu, P., Mostert, L., Spies, C. F. J., Moyo, P., Regnier, T., & Halleen, F. (2019). Diaporthe nebulae sp. nov. and First Report of D. cynaroidis, D. novem, and D. serafiniae on Grapevines in South Africa. Plant Disease, 103(5), 808-817. doi:10.1094/pdis-03-18-0433-reGuarnaccia, V., Groenewald, J. Z., Woodhall, J., Armengol, J., Cinelli, T., Eichmeier, A., … Crous, P. W. (2018). Diaporthe diversity and pathogenicity revealed from a broad survey of grapevine diseases in Europe. Persoonia - Molecular Phylogeny and Evolution of Fungi, 40(1), 135-153. doi:10.3767/persoonia.2018.40.06Varjas, V., Vajna, L., Izsépi, F., Nagy, G., & Pájtli, É. (2017). First Report of Phomopsis amygdali Causing Twig Canker on Almond in Hungary. Plant Disease, 101(9), 1674. doi:10.1094/pdis-03-17-0365-pdnMichailides, T. J., & Thomidis, T. (2006). First Report of Phomopsis amygdali Causing Fruit Rot on Peaches in Greece. Plant Disease, 90(12), 1551-1551. doi:10.1094/pd-90-1551cLópez-Moral, A., Lovera, M., Raya, M. del C., Cortés-Cosano, N., Arquero, O., Trapero, A., & Agustí-Brisach, C. (2020). Etiology of Branch Dieback and Shoot Blight of English Walnut Caused by Botryosphaeriaceae and Diaporthe Species in Southern Spain. Plant Disease, 104(2), 533-550. doi:10.1094/pdis-03-19-0545-reAdaskaveg, J. E., Förster, H., & Connell, J. H. (1999). First Report of Fruit Rot and Associated Branch Dieback of Almond in California Caused by a Phomopsis Species Tentatively Identified as P. amygdali. Plant Disease, 83(11), 1073-1073. doi:10.1094/pdis.1999.83.11.1073cFarr, D. F., Castlebury, L. A., & Pardo-Schultheiss, R. A. (1999). Phomopsis amygdali causes peach shoot blight of cultivated peach trees in the southeastern United States. Mycologia, 91(6), 1008-1015. doi:10.1080/00275514.1999.12061111Mostert, L., Crous, P. W., Kang, J.-C., & Phillips, A. J. L. (2001). Species of Phomopsis and a Libertella sp. occurring on grapevines with specific reference to South Africa: morphological, cultural, molecular and pathological characterization. Mycologia, 93(1), 146-167. doi:10.1080/00275514.2001.12061286KANEMATSU, S., YOKOYAMA, Y., KOBAYASHI, T., KUDO, A., & OHTSU, Y. (1999). Taxonomic Reassessment of the Causal Fungus of Peach Fusicoccum Canker in Japan. Japanese Journal of Phytopathology, 65(5), 531-536. doi:10.3186/jjphytopath.65.531Dai, F. M., Zeng, R., & Lu, J. P. (2012). First Report of Twig Canker on Peach Caused by Phomopsis amygdali in China. Plant Disease, 96(2), 288-288. doi:10.1094/pdis-04-11-0321Bai, Q., Zhai, L., Chen, X., Hong, N., Xu, W., & Wang, G. (2015). Biological and Molecular Characterization of Five Phomopsis Species Associated with Pear Shoot Canker in China. Plant Disease, 99(12), 1704-1712. doi:10.1094/pdis-03-15-0259-reMeng, L., Yu, C., Wang, C., & Li, G. (2018). First Report of Diaporthe amygdali Causing Walnut Twig Canker in Shandong Province of China. Plant Disease, 102(9), 1859-1859. doi:10.1094/pdis-01-18-0192-pdnSantos, L. (2017). Diaporthe species on Rosaceae with descriptions of D. pyracanthae sp. nov. and D. malorum sp. nov. Mycosphere, 8(5), 485-511. doi:10.5943/mycosphere/8/5/

The Bom Santo Cave (Lisbon, Portugal): catchment, diet, and patterns of mobility of a Middle Neolithic population

The study of the Bom Santo Cave (central Portugal), a Neolithic cemetery, indicates a complex social, palaeoeconomic, and population scenario. With isotope, aDNA, and provenance, analyses of raw materials coupled with stylistic variability of material culture items and palaeogeographical data, light is shed on the territory and social organization of a population dated to 3800-3400 cal BC, i.e. the Middle Neolithic. Results indicate an itinerant farming, segmentary society, where exogamic practices were the norm. Its lifeway may be that of the earliest megalithic builders of the region, but further research is needed to correctly evaluate the degree of this community's participation in such a phenomenon

Addressing the disparities in dementia risk, early detection and care in Latino populations: Highlights from the Second Latinos and Alzheimer's Symposium

The Alzheimer's Association hosted the second Latinos & Alzheimer's Symposium in May 2021. Due to the COVID-19 pandemic, the meeting was held online over 2 days, with virtual presentations, discussions, mentoring sessions, and posters. The Latino population in the United States is projected to have the steepest increase in Alzheimer's disease (AD) in the next 40 years, compared to other ethnic groups. Latinos have increased risk for AD and other dementias, limited access to quality care, and are severely underrepresented in AD and dementia research and clinical trials. The symposium highlighted developments in AD research with Latino populations, including advances in AD biomarkers, and novel cognitive assessments for Spanish-speaking populations, as well as the need to effectively recruit and retain Latinos in clinical research, and how best to deliver health-care services and to aid caregivers of Latinos living with AD

Integral strategy to supportive care in breast cancer survivors through occupational therapy and a m-health system: design of a randomized clinical trial

Background: Technological support using e-health mobile applications (m-health) is a promising strategy to improve the adherence to healthy lifestyles in breast cancer survivors (excess in energy intake or low physical activity are determinants of the risk of recurrence, second cancers and cancer mortality). Moreover, cancer rehabilitation programs supervised by health professionals are needed due to the inherent characteristics of these breast cancer patients. Our main objective is to compare the clinical efficacy of a m-health lifestyle intervention system alone versus an integral strategy to improve Quality of Life in breast cancer survivors. Methods: This therapeutic superiority study will use a two-arm, assessor blinded parallel RCT design. Women will be eligible if: they are diagnosed of stage I, II or III-A breast cancer; are between 25 and 75 years old; have a Body Mass Index > 25 kg/m2; they have basic ability to use mobile apps; they had completed adjuvant therapy except for hormone therapy; and they have some functional shoulder limitations. Participants will be randomized to one of the following groups: integral group will use a mobile application (BENECA APP) and will receive a face-to-face rehabilitation (8-weeks); m-health group will use the BENECA app for 2-months and will received usual care information. Study endpoints will be assessed after 8 weeks and 6 months. The primary outcome will be Quality of Life measured by The European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core and breast module. The secondary outcomes: body composition; upper-body functionality (handgrip, Disability of the Arm, Shoulder and Hand questionnaire, goniometry); cognitive function (Wechsler Adult Intelligence Scale, Trail Making Test); anxiety and depression (Hospital Anxiety and Depression Scale); physical fitness (Short version of the Minnesota Leisure Time Physical Activity Questionnaire, Self-Efficacy Scale for Physical Activity); accelerometry and lymphedema. Discussion: This study has been designed to seek to address the new needs for support and treatment of breast cancer survivors, reflecting the emerging need to merge new low cost treatment options with much-needed involvement of health professionals in this type of patients. Trial registration: ClinicalTrials.gov Identifier: NCT02817724 (date of registration: 22/06/2016).The study was funded by the Spanish Ministry of Economy and Competitiveness (Plan Estatal de I + D + I 2013-2016), Fondo de Investigación Sanitaria del Instituto de Salud Carlos III (PI14/01627), Fondos Estructurales de la Unión Europea (FEDER) and by the Spanish Ministry of Education (FPU14/01069). This is part of a Ph.D. Thesis conducted in the Clinical Medicine and Public Health Doctoral Studies of the University of Granada, Spain

Mammal responses to global changes in human activity vary by trophic group and landscape

Wildlife must adapt to human presence to survive in the Anthropocene, so it is critical to understand species responses to humans in different contexts. We used camera trapping as a lens to view mammal responses to changes in human activity during the COVID-19 pandemic. Across 163 species sampled in 102 projects around the world, changes in the amount and timing of animal activity varied widely. Under higher human activity, mammals were less active in undeveloped areas but unexpectedly more active in developed areas while exhibiting greater nocturnality. Carnivores were most sensitive, showing the strongest decreases in activity and greatest increases in nocturnality. Wildlife managers must consider how habituation and uneven sensitivity across species may cause fundamental differences in human–wildlife interactions along gradients of human influence.Peer reviewe

Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica

Fil: Alves, Ana Catarina. Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa; Portugal.Fil: Alonso, Rodrigo. Center for Advanced Metabolic Medicine and Nutrition, Santiago; Chile.Fil: Diaz-Diaz, José Luís. Hospital Universitario A Coruña. Department of Internal Medicine; España.Fil: Medeiros, Ana Margarida. Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa; Portugal.Fil: Jannes, Cinthia E. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil.Fil: Merchan, Alonso. Fundación Clinica SHAIO, Cardiología, Bogotá; Colombia.Fil: Vasques-Cardenas, Norma A. Universidad Autónoma de Guadalajara. Facultad de Medicina Zapopan; México.Fil: Cuevas, Ada. Center for Advanced Metabolic Medicine and Nutrition, Santiago; Chile.Fil: Chacra, Ana Paula. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil.Fil: Krieger, Jose E. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil.Fil: Arroyo, Raquel. Fundación Hipercolesterolemia Familiar, Madrid; España.Fil: Arrieta, Francisco. Hospital Ramón y Cajal. Departamento de Endocrinología, Madrid; España.Fil: Schreier, Laura. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis; Argentina.Fil: Corral, Pablo. Universidad FASTA. Facultad de Medicina. Cátedra Farmacología e Investigación, Mar del Plata; Argentina.Fil: Bañares, Virginia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica. Departamento de Genética Experimental; Argentina.Fil: Araujo, Maria B. Hospital Garrahan. Servicio de Nutrición; Argentina.Fil: Bustos, Paula. Universidad de Concepción. Facultad de Farmacia; Chile.Fil: Asenjo, Sylvia. Universidad de Concepción. Facultad de Medicina; Chile.Fil: Stoll, Mario. Programa GENYCO, Laboratorio de Genética Molecular. Comisión Honoraria de Salud Cardiovascular, Montevideo; Uruguay.Fil: Dell'Oca, Nicolás. Programa GENYCO, Laboratorio de Genética Molecular. Comisión Honoraria de Salud Cardiovascular, Montevideo; Uruguay.Fil: Reyes, Maria. Fundación Cardiovascular de Colombia. Cardiología; Bogotá.Fil: Ressia, Andrés. Fundación Cardiovascular de Colombia. Cardiología; Bogotá.Fil: Campo, Rafael. Instituto Mexicano del Seguro Social. Centro de Investigación Biomédica del Occidente, Guadalajara; México.Fil: Magaña-Torres, Maria T. Instituto Nacional de Ciencias Médicas y Nutrición. Unidad de Investigación de Enfermedades Metabólicas; México.Fil: Metha, Roopa. Instituto Nacional de Ciencias Médicas y Nutrición. Unidad de Investigación de Enfermedades Metabólicas; México.Fil: Aguilar-Salinas, Carlos A. Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Departamento de Endocrinología y Metabolismo. Secretaría de la Defensa Nacional. Unidad de Especialidades Médicas. Servicio de Endocrinología; México.Fil: Ceballos-Macias, José J. Pontificia Universidad Javerina. Facultad de Medicina. Departamento de Medicina Interna, Bogotá; Colombia.Fil: Ruiz Morales, Álvaro J. Pontificia Universidad Javerina. Facultad de Medicina. Departamento de Medicina Interna, Bogotá; Colombia.Fil: Mata, Pedro. Fundación Hipercolesterolemia Familiar, Madrid; España.Fil: Bourbon, Mafalda. Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa; Portugal.Fil: Santos, Raul D. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil.OBJECTIVE: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. APPROACH AND RESULTS: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3±15.8 years, 38.0% males), and 63 children (age 8.8±4.0 years, 50.8% males) were studied. Genetic characterization was available in 129 (96%). The majority (91%) were true homozygotes (true HoFH, n=79, 43.0% children, 46.8% males) or compound heterozygotes (compound heterozygous familial hypercholesterolemia, n=39, 51.3% children, 46.2% males) with putative pathogenic variants in the LDLR. True HoFH due to LDLR variants had higher total (P=0.015) and LDL (low-density lipoprotein)-cholesterol (P=0.008) compared with compound heterozygous familial hypercholesterolemia. Children with true HoFH (n=34) tended to be diagnosed earlier (P=0.051) and had a greater frequency of xanthomas (P=0.016) than those with compound heterozygous familial hypercholesterolemia (n=20). Previous major cardiovascular events were present in 25 (48%) of 52 children (missing information in 2 cases), and in 43 (67%) of 64 adults with LDLR variants. Children who are true HoFH had higher frequency of major cardiovascular events (P=0.02), coronary heart (P=0.013), and aortic/supra-aortic valve diseases (P=0.022) than compound heterozygous familial hypercholesterolemia. In adults, no differences were observed in major cardiovascular events according to type of LDLR variant. From 118 subjects with LDLR variants, 76 (64%) had 2 likely pathogenic or pathogenic variants. In 89 subjects with 2 LDLR variants, those with at least one null allele were younger (P=0.003) and had a greater frequency of major cardiovascular events (P=0.038) occurring at an earlier age (P=0.001). CONCLUSIONS: There was a high frequency of cardiovascular disease even in children. Phenotype and cardiovascular complications were heterogeneous and associated with the type of molecular defect

Pooled analysis of WHO Surgical Safety Checklist use and mortality after emergency laparotomy

Background The World Health Organization (WHO) Surgical Safety Checklist has fostered safe practice for 10 years, yet its place in emergency surgery has not been assessed on a global scale. The aim of this study was to evaluate reported checklist use in emergency settings and examine the relationship with perioperative mortality in patients who had emergency laparotomy. Methods In two multinational cohort studies, adults undergoing emergency laparotomy were compared with those having elective gastrointestinal surgery. Relationships between reported checklist use and mortality were determined using multivariable logistic regression and bootstrapped simulation. Results Of 12 296 patients included from 76 countries, 4843 underwent emergency laparotomy. After adjusting for patient and disease factors, checklist use before emergency laparotomy was more common in countries with a high Human Development Index (HDI) (2455 of 2741, 89.6 per cent) compared with that in countries with a middle (753 of 1242, 60.6 per cent; odds ratio (OR) 0.17, 95 per cent c.i. 0.14 to 0.21, P <0001) or low (363 of 860, 422 per cent; OR 008, 007 to 010, P <0.001) HDI. Checklist use was less common in elective surgery than for emergency laparotomy in high-HDI countries (risk difference -94 (95 per cent c.i. -11.9 to -6.9) per cent; P <0001), but the relationship was reversed in low-HDI countries (+121 (+7.0 to +173) per cent; P <0001). In multivariable models, checklist use was associated with a lower 30-day perioperative mortality (OR 0.60, 0.50 to 073; P <0.001). The greatest absolute benefit was seen for emergency surgery in low- and middle-HDI countries. Conclusion Checklist use in emergency laparotomy was associated with a significantly lower perioperative mortality rate. Checklist use in low-HDI countries was half that in high-HDI countries.Peer reviewe