Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder.

Post-traumatic stress disorder (PTSD) genetics are characterized by lower discoverability than most other psychiatric disorders. The contribution to biological understanding from previous genetic studies has thus been limited. We performed a multi-ancestry meta-analysis of genome-wide association studies across 1,222,882 individuals of European ancestry (137,136 cases) and 58,051 admixed individuals with African and Native American ancestry (13,624 cases). We identified 95 genome-wide significant loci (80 new). Convergent multi-omic approaches identified 43 potential causal genes, broadly classified as neurotransmitter and ion channel synaptic modulators (for example, GRIA1, GRM8 and CACNA1E), developmental, axon guidance and transcription factors (for example, FOXP2, EFNA5 and DCC), synaptic structure and function genes (for example, PCLO, NCAM1 and PDE4B) and endocrine or immune regulators (for example, ESR1, TRAF3 and TANK). Additional top genes influence stress, immune, fear and threat-related processes, previously hypothesized to underlie PTSD neurobiology. These findings strengthen our understanding of neurobiological systems relevant to PTSD pathophysiology, while also opening new areas for investigation.

The Acute: Chronic Workload Ratio and Injury Risk in Semiprofessional Football Players.

The purpose of this study was to analyze the association and predictive capacity between the acute:chronic workload ratio (ACWR) and non-contact injuries in a semiprofessional football team. Seventeen football or soccer players from a Spanish Third Division football team participated voluntarily in this study. A prospective longitudinal study was developed during the 2020/2021 season. Twenty-four weeks were analyzed from October to March, including a regenerative microcycle due to the absence of competition during Christmas. Rate of perceived exertion (RPE) and session-rate of perceived exertion (sRPE) were registered for every training and game session. Afterward, acute and chronic workloads were calculated, and ACWR was subsequently derived from them. Furthermore, non-contact injuries were registered during the period mentioned. The main findings were that there is a poor correlation between the ACWR and non-contact injuries (r=0.069 (p<0.05)), and the use of the ACWR by itself is insufficient to predict the occurrence of non-contact injuries in a semiprofessional football team. Consequently, the ACWR is not an useful predictive tool for injuries in semiprofessional football teams.

Associations of externalizing polygenic scores with externalizing disorders among Mexican youth.

Several studies have examined the association of externalizing polygenic scores (PGS) with externalizing symptoms in samples of European ancestry. However, less is known about the associations of externalizing polygenic vulnerability in relation to phenotypic externalizing disorders among individuals of different ancestries, such as Mexican youth. Here, we leveraged the largest genome-wide association study on externalizing behaviors that included over 1 million individuals of European ancestry to examine associations of externalizing PGS with a range of externalizing disorders in Mexican adolescents, and investigated whether adversity exposure in childhood moderated these associations. Participants (N = 1064; age range 12-17 years old; 58.8% female) were adolescents recruited for a general population survey on adolescent mental health in the Mexico City Metropolitan region and were genotyped. Childhood adversity exposure and externalizing disorders, specifically attention-deficit hyperactivity disorder (ADHD), conduct disorder, oppositional defiant disorder, and substance use disorder, were assessed via the computer-assisted World Mental Health Composite International Diagnostic Interview for adolescents. A greater externalizing PGS was associated with a greater odds of any externalizing disorder (OR = 1.29 [1.12, 1.48]; p < 0.01) and ADHD (OR = 1.40 [1.15, 1.70]; p < 0.01) in the whole sample, and in females in particular. There were no main effects of the externalizing PGS on conduct disorder, oppositional defiant disorder, or substance use disorder, nor did adversity exposure moderate these associations. Our results suggest that greater genetic propensity for externalizing disorders is associated with increased odds of any externalizing disorders and ADHD among Mexican adolescents, furthering our understanding of externalizing disorder manifestation in this population.

Arthroscopic-Assisted Treatment of Bennett Fractures: A Potentially Advantageous Operative Procedure?

BACKGROUND: Articular fractures of the base of the first metacarpal (Bennett fractures) have been studied for years to determine the best method of reduction and fixation. This study aims to show the application of the percutaneous reduction and internal fixation technique with cannulated screws and arthroscopic assistance in articular fractures of the base of the first metacarpal. METHODS: Descriptive cohort study in a series of 30 patients, the first cohort in our country and the largest series published so far, in which 8 patients presented with type 2A fracture and 19 patients with type 2B of the Torres-Becerra classification underwent the mentioned technique under direct vision and control of the articular reduction by arthroscopy evaluating the intraoperative characteristics of the articular surface, stability of de reduction and fixation. Assessment of functional and rehabilitation results with a minimum postoperative follow-up of 6 to 12 months. RESULTS: The senior author has used this technique with consistent clinical outcomes to improve reduction and fixation of intra-articular base fractures of first metacarpal bone (Bennett), reducing the articular step-off and gapping permitting an early rehabilitation progress with satisfactory functional results. CONCLUSIONS: We can suggest that this surgical method for the treatment of Bennett fractures may offer multiple advantages: adequate debridement of the trapeziometacarpal joint, direct visualization of the articular surface during reduction, achieving greater precision in fixation with minimum morbidity, imperceptible incisions and scars, shorter surgical time, and fewer associated complications.

¿Podrían ayudarnos los algoritmos de machine learning en la predicción de hemorragia masiva a nivel prehospitalario? / Could machine learning algorithms help us in predicting massive hemorrhage at the prehospital level?

Objetivo: Comparación de la capacidad predictiva de diferentes algoritmos de machine learning (AML) respecto a escalas tradicionales de predicción de hemorragia masiva en pacientes con enfermedad traumática grave (ETG). Diseño: Sobre una base de datos de una cohorte retrospectiva con variables clínicas prehospitalarias y de resultado de hemorragia masiva se realizó un tratamiento de la base de datos para poder aplicar los AML, obteniéndose un conjunto total de 473 pacientes (80% entrenamiento, 20% validación). Para la modelización se realizó imputación proporcional y validación cruzada. El poder predictivo se evaluó con la métrica ROC y la importancia de las variables mediante los valores Shapley. Ámbito: Atención extrahospitalaria del paciente con ETG. Pacientes: Pacientes con ETG atendidos en el medio extrahospitalario por un servicio médico extrahospitalario desde enero de 2010 hasta diciembre de 2015 y trasladados a un centro de trauma en Madrid. Intervenciones: Ninguna. Variables de interés principales: Obtención y comparación de la métrica ROC de 4 AML: random forest, support vector machine, gradient boosting machine y neural network con los resultados obtenidos con escalas tradicionales de predicción. Resultados: Los diferentes AML alcanzaron valores ROC superiores al 0,85, teniendo medianas cercanas a 0,98. No encontramos diferencias significativas entre los AML. Cada AML ofrece un conjunto de variables diferentes, pero con predominancia de las variables hemodinámicas, de reanimación y de deterioro neurológico. Conclusiones: Los AML podrían superar a las escalas tradicionales de predicción en la predicción de hemorragia masiva. (AU)

Objective: Comparison of the predictive ability of various machine learning algorithms (MLA) versus traditional prediction scales for massive hemorrhage in patients with severe traumatic injury (ETG). Design: On a database of a retrospective cohort with prehospital clinical variables and massive hemorrhage outcome, a treatment of the database was performed to be able to apply the different MLA, obtaining a total set of 473 patients (80% training and 20% validation). For modeling, proportional imputation and cross validation were performed. The predictive power was evaluated with the ROC metric and the importance of the variables using the Shapley values. Setting: Out-of-hospital care of patients with ETG. Participants: Patients with ETG treated out-of-hospital by a prehospital medical service from January 2010 to December 2015 and transferred to a trauma center in Madrid. Interventions: None. Main variables of interest: Obtaining and comparing the ROC curve metric of 4 MLAs: random forest, support vector machine, gradient boosting machine and neural network with the results obtained with traditional prediction scales. Results: The different MLA reached ROC values higher than 0.85, having medians close to 0.98. We found no significant differences between MLAs. Each MLA offers a different set of more important variables with a predominance of hemodynamic, resuscitation variables and neurological impairment. Conclusions: MLA may be helpful in patients with massive hemorrhage by outperforming traditional prediction scales. (AU)

SARS-CoV-2 Vaccine Effectiveness in Hospitalized Patients: A Multicenter Test-Negative Case-Control Study.

BACKGROUND: Phase III clinical trials have documented the efficacy of the SARS-CoV-2 vaccines in preventing symptomatic COVID-19. Nonetheless, it is imperative to continue analyzing the clinical response to different vaccines in real-life studies. Our objective was to evaluate the effectiveness of five different vaccines in hospitalized patients with COVID-19 during the third COVID-19 outbreak in Mexico dominated by the Delta variant. METHODS: A test-negative case-control study was performed in nine tertiary-care hospitals for COVID-19. We estimated odds ratios (OR) adjusted by variables related a priori with the likelihood of SARS-CoV-2 infection and its severity. RESULTS: We studied 761 subjects, 371 cases, and 390 controls with a mean age of 53 years (SD, 17 years). Overall, 51% had a complete vaccination scheme, and an incomplete scheme (one dose from a scheme of two), 14%. After adjustment for age, gender, obesity, and diabetes mellitus, we found that the effectiveness of avoiding a SARS-CoV-2 infection when hospitalized with at least one vaccination dose was 71% (OR 0.29, 95% CI 0.19-0.45), that of an incomplete vaccination scheme, 67% (OR 0.33, 95% CI 0.18-0.62), and that of any complete vaccination scheme, 73% (OR 0.27, 95% CI 0.17-0.43). CONCLUSIONS: The SARS-CoV-2 vaccination program showed effectiveness in preventing SARS-CoV-2 infection in hospitalized patients during a Delta variant outbreak.

Systemic lupus erythematosus in pediatric patients: Pulmonary manifestations.

The pulmonary manifestations of Systemic Lupus Erythematosus (SLE) in pediatric patients are poorly understood and the pulmonary manifestations reported from the adult population are generally extrapolated to the pediatric population. In the present work, the review of 228 files was carried out, in which the pulmonary manifestations, symptoms and antibody levels of the patients treated at the Hospital Regional de Alta Especialidad de Ixtapaluca (HRAEI), State of Mexico, Mexico, were identified. Statistical significance between groups was estimated using the Chi-square and Mann-Whitney U test. The main pulmonary manifestations identified were pleurisy (14 %), pulmonary hemorrhage (3.9 %), pulmonary thromboembolism (0.9 %), acute lupus pneumonitis (0.4 %), pulmonary arterial hypertension (0.4 %), and small lung syndrome (0.4 %). While the initial symptomatology was dyspnea with an incidence of 9.6 %, the mean oxygen saturation in the population was 96.87 %. Pleural effusion was identified as the most frequent pulmonary manifestation in radiographic changes. No statistically significant difference was found in antibody levels when comparing the groups. The most common pulmonary manifestation associated with SLE is pleurisy, however, the range of pulmonary manifestations in this type of patient can be very varied, as well as the presentation of each of them.

Does the Menstrual Cycle Impact the Maximal Neuromuscular Capacities of Women? An Analysis Before and After a Graded Treadmill Test to Exhaustion.

ABSTRACT: Morenas-Aguilar, MD, Ruiz-Alias, SA, Blanco, AM, Lago-Fuentes, C, García-Pinillos, F, and Pérez-Castilla, A. Does the menstrual cycle impact the maximal neuromuscular capacities of women? An analysis before and after a graded treadmill test to exhaustion. J Strength Cond Res 37(11): 2185-2191, 2023. This study explored the effect of the menstrual cycle (MC) on the maximal neuromuscular capacities of the lower-body muscles obtained before and after a graded exercise test conducted on a treadmill to exhaustion. Sixteen physically active women were tested at -11 ± 3, -5 ± 3, and 5 ± 3 days from the luteinizing peak for the early follicular, late follicular, and midluteal phases. In each session, the individualized load-velocity (L-V) relationship variables (load-axis intercept [L0], velocity-axis intercept [v0], and area under the L-V relationship line [Aline]) were obtained before and after a graded exercise test conducted on a treadmill to exhaustion using the 2-point method (3 countermovement jumps with a 0.5-kg barbell and 2 back squats against a load linked to a mean velocity of 0.55 m·second-1). At the beginning of each session, no significant differences were reported for L0 (p = 0.726; ES ≤ 0.18), v0 (p = 0.202; ES ≤ 0.37), and Aline (p = 0.429; ES ≤ 0.30) between the phases. The MC phase × time interaction did not reach statistical significance for any L-V relationship variable (p ≥ 0.073). A significant main effect of "time" was observed for L0 (p < 0.001; ES = -0.77) and Aline (p = 0.002; ES = -0.59) but not for v0 (p = 0.487; ES = 0.12). These data suggest that the lower-body maximal neuromuscular capacities obtained before and after a graded treadmill test are not significantly affected by MC, although there is a high variability in the individual response.

Discovery of 95 PTSD loci provides insight into genetic architecture and neurobiology of trauma and stress-related disorders.

Posttraumatic stress disorder (PTSD) genetics are characterized by lower discoverability than most other psychiatric disorders. The contribution to biological understanding from previous genetic studies has thus been limited. We performed a multi-ancestry meta-analysis of genome-wide association studies across 1,222,882 individuals of European ancestry (137,136 cases) and 58,051 admixed individuals with African and Native American ancestry (13,624 cases). We identified 95 genome-wide significant loci (80 novel). Convergent multi-omic approaches identified 43 potential causal genes, broadly classified as neurotransmitter and ion channel synaptic modulators (e.g., GRIA1, GRM8, CACNA1E ), developmental, axon guidance, and transcription factors (e.g., FOXP2, EFNA5, DCC ), synaptic structure and function genes (e.g., PCLO, NCAM1, PDE4B ), and endocrine or immune regulators (e.g., ESR1, TRAF3, TANK ). Additional top genes influence stress, immune, fear, and threat-related processes, previously hypothesized to underlie PTSD neurobiology. These findings strengthen our understanding of neurobiological systems relevant to PTSD pathophysiology, while also opening new areas for investigation.

Asimetrías en jugadores alevines de fútbol de una cantera de élite: diferencias entre sexos / Assymetries in junior football players from an elite youth academy: differences between sexes

El objetivo de este estudio fue detectar las asimetrías en jugadores/as de fútbol a través de una batería de test, analizar las asimetrías del lado dominante y no dominante, y comparar la correlación entre ambos sexos. 25 jugadores de fútbol del Real Racing Club de Santander, pertenecientes a la categoría Alevín, 13 jugadoras femeninas y 12 masculinos, fueron evaluados en diferentes test neuromusculares para detectar las asimetrías del miembro inferior: Single Hop Test (SHT), Triple Hop Test (THT), Salto de contramovimiento unilateral (SLCMJ), y test de cambio de dirección (505 COD). Con el fin de identificar el índice de asimetrías (ASI) neuromusculares entre los miembros inferiores se comparó la pierna dominante (PD) con la no dominante (PND) a través de la siguiente fórmula: ASI = ((PD-PND)/PD)x100. En los hallazgos se encontraron diferencias significativas (p <0.05) al comparar las asimetrías neuromusculares entre ambos sexos en los diferentes test. En cambio, no se encontraron diferencias entre pierna dominante y no dominante. Además, se observó que un 36% de la muestra de jugadores/as obtuvo un ASI >10%, considerado un factor de mayor probabilidad de sufrir una lesión en el miembro inferior. En conclusión, se ha podido comprobar a través de este estudio que se han encontrado diferencias significativas en las asimetrías del miembro inferior en función del sexo, pero no entre la pierna dominante y no dominante. En definitiva, son necesarios más estudios donde analicen las asimetrías en diferentes sexos con el fin de obtener un mayor análisis de los resultados. (AU)

The present study uses a cross-sectional design of independent and related samples whose objectives were: to detect asymmetries in football players through a battery of tests, to analyse the asymmetries of the dominant and non-dominant side, and to compare the correlation between both sexes. A total of 25 football players from Real Racing Club de Santander belonging to the Alevín category, 13 female players and 12 male players were evaluated in different neuromuscular tests to detect lower limb asymmetries: Single Hop Test (SHT), Triple Hop Test (THT), Unilateral Countermovement Jumping (SLCMJ), and Change of Direction Test (505 COD). In order to identify the neuromuscular asymmetry index (ASI) between the lower limbs, the dominant leg (PD) was compared to the non-dominant leg (PND) using the following formula: ASI = ((PD-PND)/PD)x100. Significant differences (p<0.05) were found in the findings when comparing the neuromuscular asymmetries between both sexes in the different tests. In contrast, there is no difference between dominant and non-dominant leg. In addition, it was observed that 36% of the sample of players had an ASI >10%, which is considered to be a factor of increased likelihood of lower limb injury. The highest asymmetry was detected at 20% in the SLCMJ test, which may be the most suitable jump test for identifying asymmetries. In conclusion, this study has shown that significant differences were found in lower limb asymmetries according to sex, but not between the dominant and non-dominant leg. (AU)

Survival of Hemophagocytic Syndrome Secondary to Fungal and Bacterial Infection in a Pediatric Patient with HIV: A Case Report.

HIV-associated hemophagocytic lymphohistiocytosis (HLH) is mainly due to infections caused by viruses, fungi, and, to a lesser extent, bacteria, often with fatal results. Case presentation: A 15-year-old pediatric patient from another institution was admitted to our hospital with a fever of unknown origin (FUO). Clinical analysis and laboratory studies diagnosed HIV infection. The approach to an FUO in a patient with AIDS is much more complex due to the search for common etiologies and opportunistic infections. In this case, disseminated histoplasmosis, pulmonary tuberculosis, pneumocystosis, and ehrlichiosis were diagnosed, prompting an urgent and comprehensive approach to prevent mortality. Due to the multiple infections, HLH was triggered. An early intervention with trimethoprim (TMP)-sulfamethoxazole (SMX), liposomal amphotericin B, doxycycline, and quadruple antiphimic therapy to suppress infections, in conjunction with the early administration of HLH treatment, favored the survival of this patient.

[E-VAC therapy as treatment of complications in gastrointestinal surgery in a gastroenterology reference center in Colombia: Case series]. / Terapia E-VAC como tratamiento de complicaciones en cirugía gastrointestinal en centro de referencia de gastroenterología en Colombia: Serie de casos.

Gastrointestinal postoperative anastomotic leaks and fistulas occur frequently and many are managed surgically; however, endoscopic interventions have shown to improve healing outcomes and length of hospital stay. The experience of vacuum-assisted closure therapy (E-VAC) is described, in complications such as fistulas and postoperative anastomotic leaks, in a gastrointestinal reference center in Colombia. A case series study was carried out in patients with anastomotic leaks and fistulas at different levels of the digestive tract, treated by E-VAC, by the Gastroenterology Service in Colombia, during a period from February 2019 to November 2021. Sociodemographic, clinical and surgical variables were described. 6 cases are described, 4 from lower digestive tract and 2 from upper digestive tract. 83% were men; the mean age was 51.8 years (+/-17.5). The indication for E-VAC was colorectal anastomotic fistula in 66%; the most frequent anatomical location was near the anal region (66%), less frequently at the level of the cardia (16%) and esophagus (16%). The size of the defect was described between 20 and 80% in patients undergoing E-VAC therapy, with an average hospitalization length of stay of 22.5 days, with an average number of exchanges of seven per patient. Anastomotic leaks and fistulas are potentially fatal complications in gastrointestinal surgery. E-VAC therapy has shown to be effective and safe, promoting defect closure and drainage of collections present, also decreasing the length of hospital stay.

Could machine learning algorithms help us predict massive bleeding at prehospital level?

OBJECTIVE: Comparison of the predictive ability of various machine learning algorithms (MLA) versus traditional prediction scales (TPS) for massive hemorrhage (MH) in patients with severe traumatic injury (STI). DESIGN: On a database of a retrospective cohort with prehospital clinical variables and MH outcome, a treatment of the database was performed to be able to apply the different AML, obtaining a total set of 473 patients (80% training, 20% validation). For modeling, proportional imputation and cross validation were performed. The predictive power was evaluated with the ROC metric and the importance of the variables using the Shapley values. SETTING: Out-of-hospital care of patients with STI. PARTICIPANTS: Patients with STI treated out-of-hospital by a out-of-hospital medical service from January 2010 to December 2015 and transferred to a trauma center in Madrid. INTERVENTIONS: None. MAIN VARIABLES OF INTEREST: Obtaining and comparing the "Receiver Operating Characteristic curve" (ROC curve) metric of four MLAs: "random forest" (RF), "vector support machine" (SVM), "gradient boosting machine" (GBM) and "neural network" (NN) with the results obtained with TPS. RESULTS: The different AML reached ROC values higher than 0.85, having medians close to 0.98. We found no significant differences between AMLs. Each AML offers a different set of more important variables with a predominance of hemodynamic, resuscitation variables and neurological impairment. CONCLUSIONS: MLA may be helpful in patients with HM by outperforming TPS.

The relationship of muscle oxygen saturation analyzer with other monitoring and quantification tools in a maximal incremental treadmill test.

Introduction: The study aims to explore whether NIRS derived data can be used to identify the second ventilatory threshold (VT2) during a maximal incremental treadmill test in non-professional runners and to determine if there is a correlation between SmO2 and other valid and reliable exercise performance assessment measures or parameters for maximal incremental test, such as lactate concentration (LT), RPE, HR, and running power (W). Methods: 24 participants were recruited for the study (5 women and 19 men). The devices used consisted of the following: i) a muscle oxygen saturation analyzer placed on the vastus lateralis of the right leg, ii) the Stryd power meter for running, iii) the Polar H7 heart rate band; and iv) the lactate analyzer. In addition, a subjective perceived exertion scale (RPE 1-10) was used. All of the previously mentioned devices were used in a maximal incremental treadmill test, which began at a speed of 8 km/h with a 1% slope and a speed increase of 1.2 km/h every 3 min. This was followed by a 30-s break to collect the lactate data between each 3-min stage. Spearman correlation was carried out and the level of significance was set at p < 0.05. Results: The VT2 was observed at 87,41 ± 6,47% of the maximal aerobic speed (MAS) of each participant. No relationship between lactate data and SmO2 values (p = 0.076; r = -0.156) at the VT2 were found. No significant correlations were found between the SmO2 variables and the other variables (p > 0.05), but a high level of significance and strong correlations were found between all the following variables: power data (W), heart rate (HR), lactate concentration (LT) and RPE (p < 0.05; r > 0.5). Discussion: SmO2 data alone were not enough to determine the VT2, and there were no significant correlations between SmO2 and the other studied variables during the maximal incremental treadmill test. Only 8 subjects had a breakpoint at the VT2 determined by lactate data. Conclusion: The NIRS tool, Humon Hex, does not seem to be useful in determining VT2 and it does not correlate with the other variables in a maximal incremental treadmill test.

Multimodal Endoscopic Management of Esophageal Perforations as a Complication of Peroral Endoscopic Myotomy for a Zenker's Diverticulum.

Zenker's diverticulum develops because of a weakness in Killian's triangle, leading to a mucosal and submucosal herniation. Its treatment has evolved from morbid surgical interventions to safer endoscopic techniques such as peroral endoscopic myotomy (Z-POEM). Despite being a safe technique, Z-POEM is not free of complications such as perforations, bleeding, pneumoperitoneum, and pneumothorax, for which new endoscopic techniques have been developed. We present the case of a 53-year-old man taken to a Z-POEM who postoperatively presented dehiscence of the mucosotomy and a mediastinal collection, managed with a vacuum-assisted endoscopic closure device.