Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

BACKGROUND: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2. Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum. METHODS: We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data. The deleterious effect of selected variants of uncertain significance was evaluated by cellular assays. MAIN RESULTS: We identified pathogenic variants in EVC/EVC2 in affected individuals from 41 of the 43 families with EvC. Patients from each of the two remaining families were found with a homozygous splicing variant in WDR35 and a de novo heterozygous frameshift variant in GLI3, respectively. The phenotype of these patients showed a remarkable overlap with EvC. A novel EVC2 C-terminal truncating variant was identified in the family with WAD. Deep phenotyping of the cohort recapitulated 'classical EvC findings' in the literature and highlighted findings previously undescribed or rarely described as part of EvC. CONCLUSIONS: This study presents the largest cohort of living patients with EvC to date, contributing to better understanding of the full clinical spectrum of EvC. We also provide comprehensive information on the EVC/EVC2 mutational landscape and add GLI3 to the list of genes associated with EvC-like phenotypes.

Utility of Enteral Contrast Protocols in Pediatric Adhesive Small Bowel Obstruction: A Prospective Multicenter Observational Study.

OBJECTIVE: Our objective was to determine the utility of enteral contrast-based protocols in the diagnosis and management of adhesive small bowel obstruction (ASBO) for children. BACKGROUND: Enteral contrast-based protocols for adults with ASBO are associated with decreased need for surgery and shorter hospitalization. Pediatric-specific data are limited. METHODS: We conducted a prospective observational study between October 2020 and December 2022 at nine children's hospitals who are members of the Western Pediatric Surgery Research Consortium. Inclusion criteria were children aged 1-20 years diagnosed with ASBO who underwent a trial of nonoperative management (NOM) at hospital admission. Comparisons were made between those children who received an enteral contrast challenge and those who did not. The primary outcome was need for surgery. RESULTS: We enrolled 136 children (71% male; median age: 12 y); 84 (62%) received an enteral contrast challenge. There was no difference in rate of operative intervention between the no contrast (34.6%) and contrast groups (36.9%; P=0.93). Eighty-seven (64%) were successfully managed nonoperatively with no difference in median length of stay (P=0.10) or rate of unplanned readmission (P=0.14). Among the 49 children who required an operation, there was no significant difference in time from admission to surgery or rate of small bowel resection based on prior contrast administration. CONCLUSIONS: The addition of enteral contrast-based protocols for management of pediatric ASBO does not decrease the likelihood of surgery or shorten hospitalization. Larger randomized studies may be needed to further define the role of radiologic contrast in the management of ASBO in children.

Sex differences in the effectiveness and tolerability of dolutegravir plus rilpivirine as a switch strategy in people living with HIV.

INTRODUCTION: Dolutegravir + rilpivirine (DTG + RPV) is an effective antiretroviral therapy regimen approved in clinical guidelines as a switch therapy for virologically suppressed people with HIV. Our study aimed to compare the effectiveness and tolerability of DTG + RPV in women and men in real-world clinical practice. METHODS: This was a retrospective analysis of treatment-experienced people with HIV from a large HIV unit who switched to DTG + RPV. We analysed treatment effectiveness, rates of adverse events and discontinuation, and metabolic changes after 48 weeks of treatment. HIV-RNA levels <50 copies/mL were analysed at 48 weeks using both intention-to treat analysis (where missing data were interpreted as failures) and per-protocol analysis (excluding those with missing data or changes due to reasons other than virological failure). Outcomes were compared between women and men based on sex at birth. RESULTS: A total of 307 patients were selected (71 women and 236 men). No transgender people were included. At baseline, women had lived with HIV infection and received antiretroviral therapy for longer than men (23.2 vs 17.4 years and 18.9 vs 14.2 years, respectively). In the intention-to-treat analysis, 74.6% (95% confidence interval [CI] 63.4-83.3%) of women and 83.5% (95% CI 78.2-87.7) of men had HIV-RNA <50 copies/mL. In the per-protocol analysis, 96.4% (95% CI 87.7-99) of women and 99% (95% CI 98.9-99.7) of men had HIV-RNA levels <50 copies/mL. Two women and two men had HIV-RNA >50 copies/mL at 48 weeks. Discontinuation due to adverse events was more frequent in women than in men: 12.7% vs 7.2% (p < 0.02). Neuropsychiatric and gastrointestinal events were the most frequently reported. A median (interquartile range) weight gain of 1.9 kg (0-4.2) in women and 1.2 kg (-1-3.1) in men was reported (median of differences between baseline visit and week 48); the remaining changes in metabolic parameters were neutral. CONCLUSIONS: DTG + RPV exhibited good and similar virological effectiveness in women and men in real-world settings. However, poorer tolerability and more treatment interruptions were observed in women.

Linking nursing students' professional identity, clinical learning environment, financial incentives, and career opportunities with migration intent: Structural equation modeling.

AIMS: To investigate how nursing students' professional identity, clinical learning environment, financial incentives, and career opportunities influence their intention to migrate. BACKGROUND: There is a preponderance of studies about nurse migration and its impact on the global nursing workforce. However, a critical gap remains about nursing students' intentions to migrate, particularly among developing countries like the Philippines. METHODS: Using a cross-sectional design, third- and fourth-year nursing students (n = 316) from the largest comprehensive university in Manila were conveniently recruited. Data were collected from November to December 2023 using five validated self-report scales. Descriptive (e.g., mean, standard deviation) and inferential statistics (e.g., Spearman rho, covariance-based structural equation modeling) were used to analyze data. RESULTS: The emerging model demonstrated acceptable model fit indices. Nursing students' professional identity (ß = 0.18, p = 0.043) and financial incentives (ß = 0.10, p = 0.046) significantly and positively influence the intention to migrate. The satisfaction with future career opportunities (ß = -0.12, p = 0.038) and clinical learning environment perception (ß = -0.15, p = 0.048) negatively influence the intention to migrate. These four predictors accounted for 4.60% of the total variance of intention to migrate. CONCLUSION: Nursing students' professional identity and financial incentives directly impact intent to migrate, whereas future career opportunities satisfaction and clinical learning environment inversely affect intent to migrate. IMPLICATIONS FOR NURSING PRACTICE AND POLICY: This study underscores the imperative for nursing colleges and faculty to promote positive professional identity and provide a conducive clinical learning environment to develop sustainable nurses' migration policies.

Comprehensive arthroscopic management without axillary nerve release or subacromial decompression achieves satisfactory and durable results in young patients with glenohumeral osteoarthritis.

PURPOSE: The comprehensive arthroscopic management (CAM) procedure is a useful joint-preserving option for young or active patients with glenohumeral osteoarthritis (GHOA). Our objective was to evaluate the results and prognostic factors of the CAM procedure without direct axillary nerve release or subacromial decompression. METHODS: A retrospective observational study among patients with GHOA who underwent the CAM procedure was conducted. Neither axillary nerve neurolysis nor subacromial decompression was performed. Both primary and secondary GHOA were considered; the latter was defined as a history of shoulder pathology (mainly instability or proximal humerus fracture). The American Shoulder and Elbow Surgeons scale, Simple Shoulder Test, Visual Analogue Scale, activity level, Single Assessment Numeric Evaluation, EuroQol 5 Dimensions 3 Levels, Western Ontario Rotator Cuff Index, and active range of motion (aROM) were analysed. RESULTS: Twenty-five patients who underwent the CAM procedure met the inclusion criteria. After a mean follow-up of 42.4 ± 22.9 months, we found improvement (p < 0.001) in all postoperative values of the different scales. The procedure increased aROM overall. Patients with arthropathy due to instability showed worse results. The rate of CAM failures, defined as conversion to shoulder arthroplasty, was 12%. CONCLUSIONS: This study showed that the CAM procedure without direct axillary nerve neurolysis or subacromial decompression might be a valid alternative in active patients with advanced GHOA to improve shoulder function (aROM and scores), decrease pain, and delay arthroplasty. This technique showed good subjective functional scores, high patient satisfaction, and a low rate of complications. LEVEL OF EVIDENCE: IV.

Vanadium inhalation effects on the corneal ciliary neurotrophic factor (CNTF): study in a murine model.

PURPOSE: Air pollution is a public health problem caused by predatory human activities and the indiscriminate burning of fossil fuels that liberate particulate matter (PM) into the atmosphere. Vanadium (V) adheres to them and reaches the bloodstream and different organs such as the eye when inhaled. Another way to reach the eye is by direct contact, and the cornea is the first layer exposed. Ciliary neurotrophic factor (CNTF) is secreted by the corneal nerves and some of its functions include self-renewal maintenance and wound healing by the activation of STAT3. Previous reports from our group indicate the activation of STAT3 after the inhalation of V, adhered to PM. OBJECTIVE: To analyse the effect of V inhalation in the expression of CNTF. Method: CD-1 male mice were exposed for 4 and 8 weeks to V inhalation. The eyes were removed, and the corneas were processed for immunohistochemistry for CNTF and analysed by densitometry. The same slides were used to evaluate histological modifications and to measure the corneas' anterior epithelial and endothelial thickness. RESULTS: A decrease in CNTF expression in the anterior epithelium in the 8th week, as well as an increase in the endothelial and corneal thickness and disarray of all the layers of the anterior epithelium. CONCLUSION: V inhalation disturbs the architecture of the cornea and modifies the presence of CNTF which might modify the renewal of the corneas after exposure to PM air pollution.

Bacterial and parasite co-infection in Mexican golden trout (Oncorhynchus chrysogaster) by Aeromonas bestiarum, Aeromonas sobria, Plesiomonas shigelloides and Ichthyobodo necator.

BACKGROUND: Bacterial infections are responsible of high economic losses in aquaculture. Mexican golden trout (Oncorhynchus chrysogaster) is a threatened native trout species that has been introduced in aquaculture both for species conservation and breeding for production and for which no studies of bacterial infections have been reported. CASE PRESENTATION: Fish from juvenile stages of Mexican golden trout showed an infectious outbreak in a farm in co-culture with rainbow trout (Oncorhynchus mykiss), showing external puntiform red lesions around the mouth and caudal pedunculus resembling furuncles by Aeromonas spp. and causing an accumulated mortality of 91%. Isolation and molecular identification of bacteria from lesions and internal organs showed the presence of Aeromonas bestiarum, Aeromonas sobria, Plesiomonas shigelloides and Ichthyobodo necator isolated from a single individual. All bacterial isolates were resistant to amoxicillin-clavulanic acid and cefazoline. P. shigelloides was resistant to third generation ß-lactamics. CONCLUSIONS: This is the first report of coinfection by Aeromonas bestiarum, Aeromonas sobria, Plesiomonas shigelloides and Ichthyobodo necator in an individual of Mexican golden trout in co-culture with rainbow trout. Resistance to ß-lactams suggests the acquisition of genetic determinants from water contamination by human- or livestock-associated activities.

Integrating Scalable Genome Sequencing Into Microbiology Laboratories for Routine Antimicrobial Resistance Surveillance.

Antimicrobial resistance (AMR) is considered a global threat, and novel drug discovery needs to be complemented with systematic and standardized epidemiological surveillance. Surveillance data are currently generated using phenotypic characterization. However, due to poor scalability, this approach does little for true epidemiological investigations. There is a strong case for whole-genome sequencing (WGS) to enhance the phenotypic data. To establish global AMR surveillance using WGS, we developed a laboratory implementation approach that we applied within the NIHR Global Health Research Unit (GHRU) on Genomic Surveillance of Antimicrobial Resistance. In this paper, we outline the laboratory implementation at 4 units: Colombia, India, Nigeria, and the Philippines. The journey to embedding WGS capacity was split into 4 phases: Assessment, Assembly, Optimization, and Reassessment. We show that on-boarding WGS capabilities can greatly enhance the real-time processing power within regional and national AMR surveillance initiatives, despite the high initial investment in laboratory infrastructure and maintenance. Countries looking to introduce WGS as a surveillance tool could begin by sequencing select Global Antimicrobial Resistance Surveillance System (GLASS) priority pathogens that can demonstrate the standardization and impact genome sequencing has in tackling AMR.

Complexity of Genomic Epidemiology of Carbapenem-Resistant Klebsiella pneumoniae Isolates in Colombia Urges the Reinforcement of Whole Genome Sequencing-Based Surveillance Programs.

BACKGROUND: Carbapenem-resistant Klebsiella pneumoniae (CRKP) is an emerging public health problem. This study explores the specifics of CRKP epidemiology in Colombia based on whole genome sequencing (WGS) of the National Reference Laboratory at Instituto Nacional de Salud (INS)'s 2013-2017 sample collection. METHODS: A total of 425 CRKP isolates from 21 departments were analyzed by HiSeq-X10®Illumina high-throughput sequencing. Bioinformatic analysis was performed, primarily using the pipelines developed collaboratively by the National Institute for Health Research Global Health Research Unit (GHRU) on Genomic Surveillance of Antimicrobial Resistance (AMR), and AGROSAVIA. RESULTS: Of the 425 CRKP isolates, 91.5% were carbapenemase-producing strains. The data support a recent expansion and the endemicity of CRKP in Colombia with the circulation of 7 high-risk clones, the most frequent being CG258 (48.39% of isolates). We identified genes encoding carbapenemases blaKPC-3, blaKPC-2, blaNDM-1, blaNDM-9, blaVIM-2, blaVIM-4, and blaVIM-24, and various mobile genetic elements (MGE). The virulence of CRKP isolates was low, but colibactin (clb3) was present in 25.2% of isolates, and a hypervirulent CRKP clone (CG380) was reported for the first time in Colombia. ST258, ST512, and ST4851 were characterized by low levels of diversity in the core genome (ANI > 99.9%). CONCLUSIONS: The study outlines complex CRKP epidemiology in Colombia. CG258 expanded clonally and carries specific carbapenemases in specific MGEs, while the other high-risk clones (CG147, CG307, and CG152) present a more diverse complement of carbapenemases. The specifics of the Colombian situation stress the importance of WGS-based surveillance to monitor evolutionary trends of sequence types (STs), MGE, and resistance and virulence genes.

Effects of Vanadium Inhalation and Sweetened Beverage Ingestion in Mice: Morphological and Biochemical Changes in the Liver.

The aim of this report was to evaluate the morphological and biochemical changes in the liver by the inhalation of vanadium and consumption of sweetened beverages in a subchronic murine model. Forty CD-1 male mice were randomly divided into four groups: control, vanadium (V), sucrose 30% (S), and vanadium-sucrose (V + S). V was inhaled (1.4 mg/m3) for 1h, twice/week; 30% sucrose solution was given orally ad libitum. Blood samples were obtained for AST, ALT, and LDH determination. Liver samples were processed for histological and oxidative stress immunohistochemical evaluation with 4-hydroxynonenal at weeks 4 and 8 of exposure. Regarding liver function tests, a statistically significant increase (P < 0.05) was observed in groups V, S, and V + S at weeks 4 and 8 compared to the control group. A greater number of hepatocytes with meganuclei and binuclei were observed in V and V + S at week 8 compared to the other groups. Steatosis and regenerative changes were more extensive in the eighth week V + S group. 4-Hydroxynonenal immunoreactivity increased in the V + S group at both exposure times compared to the other groups; however, the increment was more evident in the V + S group at week 4 compared to the V + S group at week 8. An increase in De Ritis ratio (>1) was noticed in experimental groups at weeks 4 and 8. Findings demonstrate that in the liver, V, S, and V + S induced oxidative stress and regenerative changes that increased with the length of exposure. Results support possible potentiation of liver damage in areas with high air pollution and high-sweetened beverage consumption.

Unraveling the Roles of Vascular Proteins Using Proteomics.

Vascular bundles play important roles in transporting nutrients, growth signals, amino acids, and proteins between aerial and underground tissues. In order to understand these sophisticated processes, a comprehensive analysis of the roles of the components located in the vascular tissues is required. A great deal of data has been obtained from proteomic analyses of vascular tissues in plants, which mainly aim to identify the proteins moving through the vascular tissues. Here, different aspects of the phloem and xylem proteins are reviewed, including their collection methods, and their main biological roles in growth, and biotic and abiotic stress responses. The study of vascular proteomics shows great potential to contribute to our understanding of the biological mechanisms related to development and defense in plants.

GIS-based approach to zoning the risk associated with municipal solid waste management: application to regional scale.

The objective of this paper is to offer an approach to assess the risk associated with Municipal Solid Wastes, in a geospatial context. Initially, a risk index including hazard, vulnerability and other important variables was built. The built model is based on multi-criteria evaluation techniques and geographic information systems. Subsequently, the constructed index was used to model possible damage in various municipalities of the state of Chiapas, Mexico. The results indicate that the highest levels of risk are found in places with unfavorable conditions, such as high rates of waste generation, low waste collection coverage, steep slopes, etc. that cover 6.22% of the study area. The areas with high risk level are mainly found in the southeast of the municipalities of Villa Corzo and Villaflores, and cover 27.06% of the study area. The places of low and very low risk levels are concentrated in the center and northeast of the study area, in the municipalities of Suchiapa, Chiapa de Corzo and Acala, and cover 38.6% of the area. At the municipal level, Berriozábal, Villaflores and Villa Corzo have the highest levels of risk in most of their territory; the high levels of risk presented in Berriozábal are due to the limited territorial area that it occupies in the study area. In Villaflores and Villa Corzo, the high levels of risk are due to the high population dispersion. A large part of Tuxtla Gutiérrez territory presents low and medium risk levels, especially within the population settlement. The peripheral areas show the highest levels of risk, because the waste collection service is not provided very often. Finally, the Cohen's kappa statistic used to validate the precision of the model gave a value of 0.34, which means that the spatial model can be considered acceptable despite its low value. Although this work is only a general approach to spatial risk modeling at a regional scale, it provides interesting information. Moreover, it adds to the few efforts that exist in the literature to model the risk associated with wastes.

Full genome sequence of the first SARS-CoV-2 detected in Mexico.

SARS-CoV-2 was first detected in the city of Wuhan, Hubei Province, China. In this report, we describe the complete genome sequence of the first imported SARS-CoV-2, detected in a Mexican patient who had traveled to Bergamo, Italy. Phylogenetic analysis showed that this isolate belongs to subclade A2a (lineage G) and is closely related to isolates from Finland, Germany and Brazil, all of which were from patients with a history of travel to Italy. This is the first report of the complete genome sequence of this virus in Mexico.

First database of the spatial distribution of Eimeria species of cattle, sheep and goats in Mexico.

Ruminant coccidiosis is a gastrointestinal disease caused by parasites of the genus Eimeria. Environmental and climatic factors are relevant for the development, survival, and transmission of coccidiosis because Eimeria oocysts are able to survive in the environment for several weeks or months in favorable conditions of moderate heat and moisture. The aim of the present study was to georeference, for the first time, the locations of Eimeria occurrences in Mexico from 1961 to 2018. A dataset was created for 3414 reports of Eimeria occurrences in cattle, sheep, and goats in Mexico. Twelve species of Eimeria that infect cattle were recorded, 11 Eimeria species of sheep are present in Mexico, and eight species of goats are geographically distributed in the country. In the current findings, it has been observed that Eimeria colonizes mainly the temperate semihumid, temperate humid, warm humid, and warm semihumid areas during spring and summer in animals younger than 1 year of age. Macroenvironmental variables like temperature and rainfall influence the prevalence of Eimeria in cattle, sheep, and goats, and for some species, the rearing system, facility type, farm size, and altitude affect the occurrence of this parasite. Results may support future studies aimed at reducing the disease prevalence of the parasite in endemic regions of Mexico. The use of recorded cases and climate variables yields a more comprehensive perspective of the epidemiology of eimeriosis, which would be difficult to infer from laboratory studies alone.

Subscapularis structural integrity and function after arthroscopic Latarjet procedure at a minimum 2-year follow-up.

BACKGROUND: Subscapularis function after arthroscopic Bankart repair has been widely studied. However, data regarding subscapularis performance after arthroscopic Latarjet procedures are lacking. This study aimed to evaluate subscapularis clinical and radiologic performance after arthroscopic Latarjet procedures. METHODS: We included 40 patients who underwent arthroscopic Latarjet procedure with a minimum 2-year follow-up. Clinical evaluation included Western Ontario Shoulder Instability Index and Rowe scores, specific subscapularis isokinetic study, and lift-off tests. Contralateral measurements were used for comparison. Computed tomographic evaluation included graft consolidation, muscle dimensions, and degree of fatty atrophy, calculated as the mean muscle attenuation (MMA). RESULTS: There was a decrease of 8.3% of maximum internal rotation peak torque in the operated arm (P = .02). However, there was no significant difference in the agonist-antagonist ratio: 76.9% in the operated arm and 76% in the contralateral (P = .82). Lift-off strength test demonstrated a decrease in the first year but not at final follow-up (P = .38). There was a significant decrease in lift-off distance of 23% compared to the contralateral side (P < .001). Subscapularis MMA was diminished when compared to the infraspinatus/teres minor (P < .001) at the expense of its upper part (P = .03). Hyperlaxity and number of dislocation episodes were correlated to a lower MMA (P = .046 and P = .005). CONCLUSION: Arthroscopic Latarjet procedures provide satisfactory clinical results. There seems to be a diminished subscapularis MMA depending on its superior half. Hyperlaxity and number of previous dislocations were correlated to a lower MMA. Although there was a decrease in the maximum internal rotation peak torque, we did not find any difference in the agonist-antagonist ratio or in the final lift-off strength between sides.

Growth Analysis of Wheat Using Machine Vision: Opportunities and Challenges.

Crop growth analysis is used for the assessment of crop yield potential and stress tolerance. Capturing continuous plant growth has been a goal since the early 20th century; however, this requires a large number of replicates and multiple destructive measurements. The use of machine vision techniques holds promise as a fast, reliable, and non-destructive method to analyze crop growth based on surrogates for plant traits and growth parameters. We used machine vision to infer plant size along with destructive measurements at multiple time points to analyze growth parameters of spring wheat genotypes. We measured side-projected area by machine vision and RGB imaging. Three traits, i.e., biomass (BIO), leaf dry weight (LDW), and leaf area (LA), were measured using low-throughput techniques. However, RGB imaging was used to produce side projected area (SPA) as the high throughput trait. Significant effects of time point and genotype on BIO, LDW, LA, and SPA were observed. SPA was a robust predictor of leaf area, leaf dry weight, and biomass. Relative growth rate estimated using SPA was a robust predictor of the relative growth rate measured using biomass and leaf dry weight. Large numbers of entries can be assessed by this method for genetic mapping projects to produce a continuous growth curve with fewer replicates.

Most coronoid fractures and fracture-dislocations with no radial head involvement can be treated nonsurgically with elbow immobilization.

HYPOTHESIS: Conservative treatment of isolated coronoid fractures and fracture-dislocations focused on soft-tissue healing can provide good clinical results in the majority of patients. Our aims were (1) to evaluate the outcome of a conservative treatment protocol designed for isolated coronoid fractures with or without associated elbow dislocations (ICFs) and (2) to characterize the fractures with a dedicated image analysis protocol. METHODS: Of 38 consecutive patients sustaining acute ICFs, 28 were treated nonsurgically after meeting specific inclusion criteria, prospectively followed up, and clinically evaluated at least 1 year after sustaining their injuries. All cases underwent elbow computed tomography scans with tri-plane and 3-dimensional reconstructions according to a specific protocol referenced to the proximal ulna. RESULTS: The study included 15 male and 13 female patients, with a mean follow-up period of 32 ± 14 months (range, 12-61 months). An associated dislocation was presented in 8 (29%). Mean extension and flexion were 2° ± 8° (range, -10° to 30°) and 139° ± 11° (range, 110°-155°), respectively. Mean pronation and supination were 74° ± 3° (range, 60°-75°) and 83° ± 9° (range, 40°-85°), respectively. Of the patients, 78% rated their elbow as being normal or nearly normal. The mean Mayo Elbow Performance Score was 95 ± 9 (range, 70-100). The mean Disabilities of the Arm, Shoulder and Hand score was 7 ± 13 (range, 0-57). The mean coronoid fracture height was 5.7 ± 1.2 mm (range, 3.7-7.9 mm). The mean percentage of coronoid height fractured was 33% ± 6% (range, 23%-43%). Mean fracture displacement was 2.7 ± 2 mm (range, 1-9 mm). Of the fractures, 23 (82%) were located at the anteromedial coronoid. CONCLUSION: An ICF with a perfectly reduced ulnohumeral joint, a competent sublime tubercle, and a fractured coronoid height up to 50% can be treated without surgery with excellent or good results in more than 90% of cases regardless of the location of the fracture in the coronoid or the type of soft tissue-associated disruptions.

Acute Liver Failure: Outcome and Value of Pediatric End-Stage Liver Disease Score in Pediatric Cases.

PURPOSE: The aims of this study were to analyze the characteristics of patients with acute liver failure (ALF) in our center and evaluate the prognostic value of the Pediatric End-Stage Liver Disease (PELD) score calculated at admission. METHODS: A retrospective analysis of patients with ALF younger than 15 years between 2005 and 2013 was performed. Information collected included age, sex, etiology of ALF, laboratory tests, PELD score, stage of encephalopathy, and need for liver support devices such as MARS and/or liver transplant (LT) and survival. A poor prognosis was defined as the need for LT or death. RESULTS: Twenty patients (10 male patients, 50%) with a median age of 2.6 years (3 days-14.5 y old) were included. Acute liver failure was of indeterminate cause in 5 cases (25%). Within the recognized causes, the most frequent were viral hepatitis (herpes simplex virus, adenovirus, influenza B, Epstein-Barr virus), autoimmune hepatitis, and metabolopathies. Sixty percent presented with encephalopathy at diagnosis. Four patients were aided by a MARS liver support device. Six patients received a total of 7 transplants, all from deceased donors. The rate of spontaneous recovery was 45%. Currently 13 patients (65%) are living, 4 of them with an LT. Six patients died because of ALF. The mean PELD score of patients with spontaneous recovery was 15.31 (5.3-27.6) compared with a mean of 29.5 (17.2-39.4) in LT patients and 31.55 (15.8-52.4) for nonsurvivors (P = 0.013). CONCLUSIONS: High PELD scores at diagnosis were accurate predictors of a poor prognosis in our patients with ALF. This model may help in the clinical management of this entity, although prospective validation is needed.

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe pathogenic splicing variants in WDR35, encoding retrograde intraflagellar transport protein 121 (IFT121), in three families with a clinical diagnosis of EvC but having a distinctive phenotype. To understand why WDR35 variants result in EvC, we analysed EVC, EVC2 and Smoothened (SMO) in IFT-A deficient cells. We found that the three proteins failed to localize to Wdr35(-/-) cilia, but not to the cilium of the IFT retrograde motor mutant Dync2h1(-/-), indicating that IFT121 is specifically required for their entry into the ciliary compartment. Furthermore expression of Wdr35 disease cDNAs in Wdr35(-/-) fibroblasts revealed that the newly identified variants lead to Hedgehog signalling defects resembling those of Evc(-/-) and Evc2(-/-) mutants. Together our data indicate that splicing variants in WDR35, and possibly in other IFT-A components, underlie a number of EvC cases by disrupting targeting of both the EvC complex and SMO to cilia.

Identifying talented track and field athletes: The impact of relative age effect on selection to the Spanish National Athletics Federation training camps.

This study examined the impact of relative age effect (RAE) on selection to the Spanish National Athletics Federation (RFEA) training camps (TC) between 2006 and 2013. Overall, 1,334 selected athletes at U15 years (cadet) and U17 years (juvenile) were compared against 27,711 licensed but unselected athletes for the same age groups. The results highlighted the influential role of the RAE on selection to national level track and field training camp opportunities. Interestingly, this effect was mediated by age and gender, where effects were stronger for both males and younger athletes (U15), with no evidence of RAE for older (U17) female athletes. These results support the "maturation-selection" hypothesis as a mechanism for RAE. Particularly given the long-term goals of RFEA (e.g., production of successful senior elite athletes), these results highlight the need to consider the impact of current selection processes on effective provision of opportunities to those athletes with most potential to succeed in the long term. A number of possible context-relevant solutions are discussed, including education and awareness raising, using holistic selection criteria and correction adjustments techniques.