Influence of the typology and timing of childhood trauma in psychoticism.

PURPOSE: Child maltreatment (CM) is associated with psychosis; however little is known about the frequency, type, and timing of abuse in the personality pathology domain of psychoticism (PSY) in the DSM-5. The purpose of this study was to analyze childhood trauma typology and frequency according to gender and to identify sensitive periods of susceptibility to CM in women with high PSY. METHODS: The Maltreatment and Abuse Chronology Exposure (MACE) scale was used to evaluate the frequency, severity and timing of each type of maltreatment. The full sample consisted of 83 participants with different psychiatric diagnoses. Psychoticism was assessed with the DSM-5 Personality Inventory (PID-5). To identify the differences in CM exposure between the PSY+ (high psychoticism) and PSY- (low psychoticism) groups, the Mann-Whitney U test, the chi square test and random forest (RF) test were used. RESULTS: Comparing PSY + and PSY-, revealed gender differences in the impact of abuse, with highly frequent and severe types of abuse, in women. In women, PSY + and PSY-, were differentiated especially in non-verbal emotional abuse, peer physical bullying and parental verbal abuse. Several periods with a major peak at age seven followed by peaks at age 17 and 12 years old were identified. CONCLUSION: Increased exposure to CM occurs in women with PSY+. A sensitivity to CM exposure during early childhood and late adolescence could be a risk factor for psychoticism in women.

Totally extraperitoneal repair of groin hernia in liver transplant patients: a case series study (TOHER).

PURPOSE: The present study aims to describe the feasibility and the postoperative results of groin hernia repair in liver transplant patients using a totally extra-peritoneal (TEP) repair approach. METHODS: From May 2022 to March 2023, liver transplant patients with groin hernia underwent TEP groin hernia repair, by the single common senior experimented surgeon. Background information, intraoperative findings, postoperative complications, postoperative pain, health, and well-being were registered. RESULTS: Thirteen TEP approach groin hernioplasties were performed in 10 patients, completing the procedure in all cases without the need for conversion either to open or transabdominal preperitoneal approaches. 70% of surgical explorations revealed multiple hernia defects: lateral hernias in all patients, medial defects in 62%, and femoral defects in 30.8%. Median hospital stay was 1 day [range (0.3)], with 30% treated as outpatients. Post-surgical complications occurred in 30% of cases: 1 hematoma and 2 seromas. Postoperative pain and physical functioning scored 100 (IQR 44) and 90 (IQR 15), respectively. CONCLUSION: TEP groin hernioplasty is safe and feasible for liver transplant patients, with low complication rates, short hospital stays, and a significant proportion treated as outpatients. The posterior approach allows comprehensive repair of myopectineal defects, crucial due to associated hernial defects.

A hybrid approach: a safe option for surgical treatment of early-stage cervical cancer.

OBJECTIVE: The aim of the study was to describe the surgical treatment of early-stage cervical cancer (CC) via minimally invasive surgery (MIS) and a sequential hybrid approach combining MIS and mini-Pfannenstiel. Evaluate sentinel lymph node (SLN) detection using a hybrid tracer (ICG-99m Tc nanocolloid). PATIENTS AND METHODS: Prospective, observational, descriptive, single-center study conducted at Son Espases University Hospital between January 2019 and September 2021. Patients with early-stage CC (FIGO 2018 IA1 with ILV-IIA1) who underwent surgical treatment with a follow-up of at least one year were included. RESULTS: Thirty early-stage CC patients were included, of whom four (13.3%) were upstaged due to positive SLNs. In these cases, laparotomy was avoided, and paraaortic lymphadenectomy was performed via MIS approach. Twenty-six patients had a radical hysterectomy: 15 underwent a hybrid approach, 10 laparoscopy, and one laparotomy. Patients undergoing laparoscopic surgery had a smaller estimated tumor size than those undergoing the hybrid approach. The overall SLN detection rate was 96.1%, with 88.5% of cases occurring bilaterally. Five out of 26 patients (19.2%) presented SLN macrometastases, and five (19.2%) had atypical drainage. Surgery refined staging in 33.3% (10/30) of cases. No recurrences were reported after an average follow-up of 32 months. CONCLUSIONS: MIS for SLN avoids laparotomy leading to rapid recovery and early adjuvant treatment initiation in nodal metastasis. In our study, tumor size is an important clinical implication in the surgical approach to be used. The hybrid tracer provided a high detection rate and combined the advantages of the two tracers. The hybrid approach has a quick recovery and optimal results.

[Continuous Glucose Monitoring. Which is the evidence in Children?] / Monitoreo Continuo de Glucosa. ¿Qué evidencia tenemos en pediatría?

Diabetes Technology refers to the software or hardware that is designed to facilitate and improve the quality of life of the patient with diabetes Mellitus. A non-systematic literature search was carried out which included articles in English and Spanish about the use of continuous glucose monitoring (CGM) in pediatric patients with Type 1 diabetes Mellitus. This review summarizes the performance of the CGM, its accuracy, and classification. A chronological synthesis of the general evidence up to June 2020 was done including both adult and pediatric studies. Aspects of metabolic control were specified on the use of real-time and intermittent / flash CGM, such as reduction of HbA1c levels, reduction in frequency and severity of hypoglycemia, decrease in episodes of ketoacidosis and well being, and variables such as the Frequency of CGM use, which have been related to the improvement of the objectives of diabetes control. This review presents a chronological summary of the evidence for flash glucose monitoring in studies where only pediatric population is included and provides an account of diabetes technology recommendations that apply to pediatric population from the Ame rican Diabetes Association 2020 guideline, the International Society for Pediatric and Adolescent Diabetes 2018 recommendations.

An enigmatic case of cardiac death in an 18-years old girl.

We report a case of unusual and unexplained cardiac death in an 18-years old female patient with congenital neurosensorial deafness. The fatal event was characterized by an initial syncopal episode, associated with a wide QRS tachycardia (around 110 bpm) but stable hemodynamic conditions. The patient, however, subsequently developed severe hypotension and progressive bradyarrhythmias until asystole and lack of cardiac response to resuscitation maneuvers and ventricular pacing.

Ecological and economic effects of COVID-19 in marine fisheries from the Northwestern Mediterranean Sea.

The SARS-CoV-2 coronavirus pandemic starting at the end of 2019 impacted many human activities. We analysed the abrupt reduction in fishing pressure of the mixed small-scale and industrial fisheries in the Catalan Sea, Spanish Mediterranean, and resulting ecological and economic impacts during the first half of 2020. We used detailed fisheries data on fishing effort, landings, revenues, landings per unit of effort (LPUE) and revenues per unit of effort from January to June 2020, and complemented it with the outcomes of a marine ecosystem model. We analysed data from 2017 to 2019 and compared these to 2020 to characterise changes in the fishing activity from before (January-February) to during (March-May) the lockdown. Fishing effort during the lockdown dropped by 34%, landings were down by 49% and revenues declined by 39% in comparison with the same period in 2017-2019. LPUEs did not show significant changes during the lockdown, with the exception of shrimp species, especially the deep-water rose shrimp, which significantly increased in LPUE during March-May. These increases may reflect positive effects of reduced fishing on fast-growing species. Positive effects mostly disappeared in June 2020 with the relaxation of the lockdown. In agreement, the ecological simulations projected slight short-term increases of biomass for fast-growing, small-sized organisms during 2020, which quickly vanished when fishing resumed, and which had no detectable ecosystem effects. Three additional alternative ecological simulations illustrated that to substantially recover commercial species and ensure ecosystem sustainability in the study area, a sustained and notable reduction of fishing activity would be needed.

Lamotrigine induced Brugada-pattern in a patient with genetic epilepsy associated with a novel variant in SCN9A.

BACKGROUND: A 30-year-old man presented with intellectual disability associated with epilepsy. The epilepsy was initially treated with sodium valproate and since he was 28 years-old with lamotrigine. With the addition of lamotrigine, a pattern of Brugada syndrome appeared on the electrocardiogram. The family history was positive for epilepsy from the mothers side, who had never been treated with lamotrigine. OBJECTIVE: Determine the genetic cause of the intellectual disability, epilepsy and Brugada syndrome of the patient and try to establish a possible correlation between the genetic background and the Brugada syndrome pattern under lamotrigine treatment. METHODS: A standard karyotype, array comparative genomic hybridization and two different NGS panels have done to the index case to identify the genetic causes of the intellectual disability, epilepsy and Brugada syndrome pattern. RESULTS: Genetic analyses in the family identified a de novo duplication of 1.3 Mb in 8p21.3 as well as two novel heterozygous rare variants in SCN9A and AKAP9 genes, both inherited from the mother. CONCLUSION: We hypothesize that in this family the SCN9A variant was responsible for the epileptic syndrome. In addition, given that SCN9A is lightly expressed in the heart tissue, we postulate that this SCN9A variant, alone or in combination with AKAP9 variant, might be responsible for the Brugada pattern when challenged by lamotrigine.

Rare earths separation from fluorescent lamp wastes using ionic liquids as extractant agents.

Processing of end-of-life products has become essential in the rare earth elements (REEs) recovery field because the demand for these metals has increased over the last years due to their intensive use in advanced technologies. Fluorescent lamp wastes are considered one of the most interesting end-of-life products for investigation due to their high REEs content, mainly yttrium and europium. As a result, red phosphors (Y2O3:Eu3+ - YOX) have been chosen for evaluating their REEs' recovery potential. The REEs from a YOX reach liquor, coming from a soft leaching process have been precipitated adding oxalic acid and calcined to get the REEs in oxide form. Cyanex 572, D2EHPA and the ionic liquids, Primene 81R·Cyanex 572 IL and Primene 81R·D2EHPA IL, have been chosen to investigate the efficiency of REEs separation in chloride media. Yttrium, europium and cerium have been individually recovered by a four stages cross-flow solvent extraction process using the Primene 81R·D2EHPA IL and the Primene 81R·Cyanex 572 IL as extractants. Ce(III), Eu(III) and Y(III) have been obtained at high purities ≥ 99.9%. 4 mol/L HCl has been used to recover the yttrium and the europium from the organic phases.

Future scenarios of marine resources and ecosystem conditions in the Eastern Mediterranean under the impacts of fishing, alien species and sea warming.

Using a temporal-dynamic calibrated Ecosim food web model, we assess the effects of future changes on marine resources and ecosystem conditions of the Israeli Mediterranean continental shelf. This region has been intensely invaded by Indo-Pacific species. The region is exposed to extreme environmental conditions, is subjected to high rates of climate change and has experienced intense fishing pressure. We test the impacts of a new set of fishing regulations currently being implemented, a continued increase in sea temperatures following IPCC projections, and a continued increase in alien species biomass. We first investigate the impacts of the stressors separately, and then we combine them to evaluate their cumulative effects. Our results show overall potential future benefits of fishing effort reductions, and detrimental impacts of increasing sea temperature and increasing biomass of alien species. Cumulative scenarios suggest that the beneficial effects of fisheries reduction may be dampened by the impact of increasing sea temperature and alien species when acting together. These results illustrate the importance of including stressors other than fisheries, such as climate change and biological invasions, in an ecosystem-based management approach. These results support the need for reducing local and regional stressors, such as fishing and biological invasions, in order to promote resilience to sea warming.

Neodymium recovery from NdFeB magnet wastes using Primene 81R·Cyanex 572 IL by solvent extraction.

The necessity of Rare Earth Elements (REEs) recycling is crucial to minimizing their supply risk and provide an alternative to greener technologies. Hence, the REEs recovery from NdFeB magnet wastes using cationic extractants by solvent extraction technique has been investigated in this research. Due to the difficulty in maintaining the aqueous pH in the industrial counter-current devices when extractants like Cyanex 272 or Cyanex 572 are used, the Primene 81R·Cyanex 572 ionic liquid has been synthesised to overcome this. 99.99% Nd(III) recovery with a purity of 99.7% from an aqueous mixture of Nd/Tb/Dy in chloride medium, the three representative REEs present in the NdFeB magnets wastes, has been achieved after two stages counter-current extraction process using 0.30 M of Primene 81R·Cyanex 572 ionic liquid (1:4 A:O ratio) diluted in Solvesso 100, without any aqueous pH conditioning.

Photo-identification as a tool to study small-spotted catshark Scyliorhinus canicula.

Photo-identification (photo-ID) was tested as a means to identify individual small-spotted catsharks Scyliorhinus canicula. The spotting pattern of the caudal region of S. canicula was used for the tests and revealed that photo-ID is an efficient method to identify individuals. Photo-ID is logistically simple, making it a potential alternative to traditional tagging to provide information on the distribution patterns and population dynamics of S. canicula and related species.

MUC1 inhibition leads to decrease in PD-L1 levels via upregulation of miRNAs.

The PD-L1/PD-1 pathway is a critical component of the immunosuppressive tumor microenvironment in acute myeloid leukemia (AML), but little is known about its regulation. We investigated the role of the MUC1 oncoprotein in modulating PD-L1 expression in AML. Silencing of MUC1 in AML cell lines suppressed PD-L1 expression without a decrease in PD-L1 mRNA levels, suggesting a post-transcriptional mechanism of regulation. We identified the microRNAs miR-200c and miR-34a as key regulators of PD-L1 expression in AML. Silencing of MUC1 in AML cells led to a marked increase in miR-200c and miR-34a levels, without changes in precursor microRNA, suggesting that MUC1 might regulate microRNA-processing. MUC1 signaling decreased the expression of the microRNA-processing protein DICER, via the suppression of c-Jun activity. NanoString (Seattle, WA, USA) array of MUC1-silenced AML cells demonstrated an increase in the majority of probed microRNAs. In an immunocompetent murine AML model, targeting of MUC1 led to a significant increase in leukemia-specific T cells. In concert, targeting MUC1 signaling in human AML cells resulted in enhanced sensitivity to T-cell-mediated lysis. These findings suggest MUC1 is a critical regulator of PD-L1 expression via its effects on microRNA levels and represents a potential therapeutic target to enhance anti-tumor immunity.

Untangling surface oxygen exchange effects in YBa2Cu3O6+x thin films by electrical conductivity relaxation.

The kinetics of oxygen incorporation (in-diffusion process) and excorporation (out-diffusion process), in YBa2Cu3O6+x (YBCO) epitaxial thin films prepared using the chemical solution deposition (CSD) methodology by the trifluoroacetate route, was investigated by electrical conductivity relaxation measurements. We show that the oxygenation kinetics of YBCO films is limited by the surface exchange process of oxygen molecules prior to bulk diffusion into the films. The analysis of the temperature and oxygen partial pressure influence on the oxygenation kinetics has drawn a consistent picture of the oxygen surface exchange process enabling us to define the most likely rate determining step. We have also established a strategy to accelerate the oxygenation kinetics at low temperatures based on the catalytic influence of Ag coatings thus allowing us to decrease the oxygenation temperature in the YBCO thin films.

National registry of hemoglobinopathies in Spain (REPHem).

BACKGROUND: Although highly prevalent throughout the world, the accurate prevalence of hemoglobinopathies in Spain is unknown. PROCEDURE: This study presents data on the national registry of hemoglobinopathies of patients with thalassemia major (TM), thalassemia intermedia (TI), and sickle cell disease (SCD) in Spain created in 2014. Fifty centers reported cases retrospectively. Data were registered from neonatal screening or from the first contact at diagnosis until last follow-up or death. RESULTS: Data of the 715 eligible patients were collected: 615 SCD (497 SS, 64 SC, 54 SBeta phenotypes), 73 thalassemia, 9 CC phenotype, and 18 other variants. Most of the SCD patients were born in Spain (65%), and 51% of these were diagnosed at newborn screening. Median age at the first diagnosis was 0.4 years for thalassemia and 1.0 years for SCD. The estimated incidence was 0.002 thalassemia cases and 0.03 SCD cases/1,000 live births. Median age was 8.9 years (0.2-33.7) for thalassemia and 8.1 years (0.2-32.8) for SCD patients. Stroke was registered in 16 SCD cases. Transplantation was performed in 43 TM and 23 SCD patients at a median age of 5.2 and 7.8 years, respectively. Twenty-one patients died (3 TM, 17 SCD, 1 CC) and 200 were lost to follow-up. Causes of death were related to transplantation in three patients with TM and three patients with SCD. Death did not seem to be associated with SCD in six patients, but nine patients died secondary to disease complications. Overall survival was 95% at 15 years of age. CONCLUSIONS: The registry provides data about the prevalence of hemoglobinopathies in Spain and will permit future cohort studies and the possibility of comparison with other registries.

Repeated exposure to others' pain reduces vicarious pain intensity estimation.

BACKGROUND: Pain perception in others can be influenced by different contextual factors. In clinical settings, the repeated exposure to others' pain has been proposed as a factor that could explain underestimation of patients' pain by health care providers. Previous research supported this idea by showing that repeated exposure to persons in pain biases the subsequent willingness to impute pain in others. However, it remains unclear if the effect of repeated exposure on the detection of pain extends to deliberate pain estimation of stimuli presented for a longer period. METHOD: Therefore, in a first experiment, healthy participants were either exposed to clips of facial expressions of intense pain or neutral expressions before estimating the intensity of other individuals' pain expressions. To test the specificity of this effect with regard to the pain content, a second study was conducted with healthy adults, which compared the effect of exposure to fear, pain and neutral videos on subsequent pain assessment in others. RESULTS: Results from the first experiment indicated that repeated exposure to others' pain diminished the subsequent estimation of the intensity of pain in others. Results from the second experiment suggested that exposure to fear could bias pain estimation in a similar manner. However, the absence of difference in ratings between the exposure to fear and neutral groups warrants caution in the interpretation of these findings. CONCLUSION: By demonstrating that repeated exposure to others' pain diminished subsequent pain estimation in others, this study adds relevant information on the factors that could contribute to pain underestimation in health care professionals. WHAT DOES THIS STUDY ADD?: Repeated exposure to facial expressions of intense pain not only biases pain detection, but also pain estimation in others. Prior exposure to facial expressions of pain compared to exposure to neutral ones leads to a reduced estimation of others' pain. This effect is not specific to pain as exposure to another negative emotion (fear) also biases subsequent pain estimation. These results support the interpretation that the underestimation of patients' pain by health care professionals could be related to repeated exposure to other's pain.

Neutrophil gelatinase-associated lipocalin is a biomarker of acute-on-chronic liver failure and prognosis in cirrhosis.

BACKGROUND & AIMS: Acute-on-chronic liver failure (ACLF) is a syndrome that occurs in cirrhosis characterized by organ failure(s) and high mortality rate. There are no biomarkers of ACLF. The LCN2 gene and its product, neutrophil gelatinase-associated lipocalin (NGAL), are upregulated in experimental models of liver injury and cultured hepatocytes as a result of injury by toxins or proinflammatory cytokines, particularly Interleukin-6. The aim of this study was to investigate whether NGAL could be a biomarker of ACLF and whether LCN2 gene may be upregulated in the liver in ACLF. METHODS: We analyzed urine and plasma NGAL levels in 716 patients hospitalized for complications of cirrhosis, 148 with ACLF. LCN2 expression was assessed in liver biopsies from 29 additional patients with decompensated cirrhosis with and without ACLF. RESULTS: Urine NGAL was markedly increased in ACLF vs. no ACLF patients (108(35-400) vs. 29(12-73)µg/g creatinine; p<0.001) and was an independent predictive factor of ACLF; the independent association persisted after adjustment for kidney function or exclusion of variables present in ACLF definition. Urine NGAL was also an independent predictive factor of 28day transplant-free mortality together with MELD score and leukocyte count (AUROC 0.88(0.83-0.92)). Urine NGAL improved significantly the accuracy of MELD in predicting prognosis. The LCN2 gene was markedly upregulated in the liver of patients with ACLF. Gene expression correlated directly with serum bilirubin and INR (r=0.79; p<0.001 and r=0.67; p<0.001), MELD (r=0.68; p<0.001) and Interleukin-6 (r=0.65; p<0.001). CONCLUSIONS: NGAL is a biomarker of ACLF and prognosis and correlates with liver failure and systemic inflammation. There is remarkable overexpression of LCN2 gene in the liver in ACLF syndrome. LAY SUMMARY: Urine NGAL is a biomarker of acute-on-chronic liver failure (ACLF). NGAL is a protein that may be expressed in several tissues in response to injury. The protein is filtered by the kidneys due to its small size and can be measured in the urine. Ariza, Graupera and colleagues found in a series of 716 patients with cirrhosis that urine NGAL was markedly increased in patients with ACLF and correlated with prognosis. Moreover, gene coding NGAL was markedly overexpressed in the liver tissue in ACLF.

Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome.

Mucopolysaccharidosis type VI (MPS VI) is a progressive, autosomal, recessive lysosomal disorder. This disorder, due to a deficiency in N-acetylgalactosamine-4-sulfatase (ASB), results in an accumulation of glycosaminoglycan (GAG), causing multiple organ failures. In this study, monochorionic biamniotic twins with the severe form of MPS VI underwent enzyme replacement therapy (ERT) with weekly infusions of recombinant human ASB (galsulfase) at 1 mg/kg. After 9 years of ERT, a comprehensive clinical examination was performed. Several types of biochemical, immunological, and genetic investigations were also conducted. Both twins showed the typical symptoms and signs of MPS VI at baseline, including short stature, progressive dysmorphic facial features, and dysostosis multiplex. Twin 2 presented stronger multisystemic involvement, with marked musculoskeletal, neurological, and odontological components. She also developed an ischemic spinal cord lesion after surgery, which is the first case described in the literature in Maroteaux-Lamy syndrome. However, the extent of disease was found to be equally stabilized in the two sisters, concretely the cardiac and respiratory functions and body length. The early diagnosis and treatment of MPS VI are critical for an optimal clinical outcome, and further evidence for the new treatment strategies is needed.

Plasmid Rolling-Circle Replication.

Plasmids are DNA entities that undergo controlled replication independent of the chromosomal DNA, a crucial step that guarantees the prevalence of the plasmid in its host. DNA replication has to cope with the incapacity of the DNA polymerases to start de novo DNA synthesis, and different replication mechanisms offer diverse solutions to this problem. Rolling-circle replication (RCR) is a mechanism adopted by certain plasmids, among other genetic elements, that represents one of the simplest initiation strategies, that is, the nicking by a replication initiator protein on one parental strand to generate the primer for leading-strand initiation and a single priming site for lagging-strand synthesis. All RCR plasmid genomes consist of a number of basic elements: leading strand initiation and control, lagging strand origin, phenotypic determinants, and mobilization, generally in that order of frequency. RCR has been mainly characterized in Gram-positive bacterial plasmids, although it has also been described in Gram-negative bacterial or archaeal plasmids. Here we aim to provide an overview of the RCR plasmids' lifestyle, with emphasis on their characteristic traits, promiscuity, stability, utility as vectors, etc. While RCR is one of the best-characterized plasmid replication mechanisms, there are still many questions left unanswered, which will be pointed out along the way in this review.

Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia.

Pompe disease is a rare metabolic myopathy whose diagnosis is sometimes delayed despite being essential for improving clinical outcomes. We aimed to investigate the prevalence of late-onset Pompe disease among patients with a myopathy of unknown etiology, including polymyositis, or with idiopathic rise of creatine kinase (CK) levels, in a department of internal medicine. A cohort study was conducted in 241 subjects: 140 patients with myopathies of unknown origin or increased CK levels, 30 with polymyositis and 71 who constituted the control group of other myopathies. Acid α-glucosidase (GAA) activity was tested in dried blood spots. If a positive result was obtained, GAA activity in isolated lymphocytes and/or genetic testing was performed as a confirmatory diagnosis. Out of the 140 investigated patients, 2 patients with myopathies of unknown origin were confirmed to be positive for Pompe disease. Thus, late-onset Pompe disease should be considered among adult patients with myopathy of unknown origin.