Functional redundancy of the three insulin receptors of cockroaches.

Gene duplication is a fundamental evolutionary process which provides opportunities to acquire new gene functions. In the case of the insulin receptors (InRs) in cockroaches and close-related insects, two successive duplications determined the occurrence of three InR genes: InR2, InR1 and InR3, the last two forming a sister cluster to InR2. The biological role of each of the gene duplicates and whether they resulted from neofunctionalization or subfunctionalization is still unclear. The analysis of the sequences from different lineages did not detect positive selection as driving the divergence of InR1 and InR3, discarding neofunctionalization, and suggesting that there is no functional divergence between both gene copies. Using the cockroach Blattella germanica as a model, we have determined that BgInR2 is the gene with the highest expression levels in all the tissues analyzed, both in adult females and males, as well as in nymphs and embryos. BgInR3 is second in expression levels while BgInR1 is expressed at lower levels and only in some tissues. The selective depletion by RNAi of each of the three InRs, analyzed in terms of phenotype and fat body transcriptomic profiles, resulted in essentially redundant effects, with a magnitude approximately proportional to the level of expression of the respective InR. Therefore, the results indicate that the InR duplicates likely experienced a subfunctionalization process, by which the three InRs maintained similar functions but contributing to those functions proportionally to their expression levels.

The Catalan initiative for the Earth BioGenome Project: contributing local data to global biodiversity genomics.

The Catalan Initiative for the Earth BioGenome Project (CBP) is an EBP-affiliated project network aimed at sequencing the genome of the >40 000 eukaryotic species estimated to live in the Catalan-speaking territories (Catalan Linguistic Area, CLA). These territories represent a biodiversity hotspot. While covering less than 1% of Europe, they are home to about one fourth of all known European eukaryotic species. These include a high proportion of endemisms, many of which are threatened. This trend is likely to get worse as the effects of global change are expected to be particularly severe across the Mediterranean Basin, particularly in freshwater ecosystems and mountain areas. Following the EBP model, the CBP is a networked organization that has been able to engage many scientific and non-scientific partners. In the pilot phase, the genomes of 52 species are being sequenced. As a case study in biodiversity conservation, we highlight the genome of the Balearic shearwater Puffinus mauretanicus, sequenced under the CBP umbrella.

Decoding functional proteome information in model organisms using protein language models.

Protein language models have been tested and proved to be reliable when used on curated datasets but have not yet been applied to full proteomes. Accordingly, we tested how two different machine learning-based methods performed when decoding functional information from the proteomes of selected model organisms. We found that protein language models are more precise and informative than deep learning methods for all the species tested and across the three gene ontologies studied, and that they better recover functional information from transcriptomic experiments. The results obtained indicate that these language models are likely to be suitable for large-scale annotation and downstream analyses, and we recommend a guide for their use.

Long-term lung function follow-up of preterm infants less than 32 weeks of gestational age.

BACKGROUND: Preterm infants, particularly those with bronchopulmonary dysplasia (BPD), are at risk of lung development problems. Over the last decades, lung protective strategies have been used, decreasing the risk of chronic lung disease. OBJECTIVE: To evaluate the pulmonary function test (PFT) of preterm infants born after the introduction of lung protective strategies and to assess perinatal determinants of impaired lung function in this population. METHODS: A prospective, observational, single-center study was conducted in the neonatal unit of a high-complexity hospital. The study included newborns with less than 32 weeks gestational age born between 2012 and 2014, who were followed up until they reach school age. For the main outcome, two groups were stablished: no BPD or grade 1 BPD (no BPD/1) and grade 2 or 3 BPD (BPD 2/3). RESULTS: Out of 327 patients, 116 were included. BPD was diagnosed in 49.1% (47), with 50.9% (29) classified as grade 1, 35.1% (20) as grade 2, and 14.0% (8) as grade 3. Mean age at PFT was 8.59 years (SD 0.90). Mean FEV1% was 95.36% (SD 13.21) and FEV1 z-score -0.36 (SD 1.12); FVC% 97.53% (SD 12.59) and FVC z-score -0.20 (SD 1.06); FEV1/FVC ratio 85.84% (SD 8.34) and z-score -0.24 (SD 1.34). When comparing patients with no BPD/1 and BPD 2/3, we observed differences in all pulmonary function parameters, which persisted after adjusting for gestational age. No differences in PFT were observed between patients without BPD and those with grade 1 BPD. Most patients (76.7%, 89) had normal spirometry pattern, with obstructive pattern observed in 12.9% (15), restrictive pattern in 9.5% (11), and mixed pattern in 0.9% (1) of patients. CONCLUSION: Preterm infants with BPD 2/3 showed a decrease in all pulmonary function parameters compared to preterm infants with no BPD/1; an effect that was independent of gestational age. Among patients with BPD who had an altered PFT pattern, the most common pattern was obstructive, followed by restrictive and then, mixed.

Synovial myxosarcoma in the scapulohumeral joint of a dog: a case report.

A 12-year-old, 3 kg spayed female mixed-breed dog was evaluated to assess a 1-year history of intermittent right forelimb lameness that did not have adequate response to nonsteroidal anti-inflammatory drugs. The radiographic study performed under sedation showed multifocal radiolucent areas affecting both the right humerus and scapula with focal soft tissue swelling; a CT scan confirmed the existence of an aggressive and invasive soft tissue mass affecting the scapulohumeral joint. Fine needle aspiration results suggested a low-grade synovial sarcoma and therefore a scapulectomy was performed. The biopsy showed spindle to stellated cells immersed in a basophilic and mucinous (myxoid) matrix with mild to moderate anisocytosis, moderate anisokaryosis, some binucleated cells and sporadic multinucleated cells. These findings are consistent with low-grade synovial myxosarcoma, a not well described synovial neoplasm that can mimic other commonly seen joint tumors or even septic arthritis on radiographs. The purpose of this case report is to describe the first reported synovial myxosarcoma affecting the scapulohumeral joint of a small dog.

Analysis of single nucleotide polymorphisms of the metabotropic glutamate receptors in a transgender population.

Introduction: Gender incongruence (GI) is characterized by a marked incongruence between an individual's experienced/expressed gender and the assigned sex at birth. It includes strong displeasure about his or her sexual anatomy and secondary sex characteristics. In some people, this condition produces a strong distress with anxiety and depression named gender dysphoria (GD). This condition appears to be associated with genetic, epigenetics, hormonal as well as social factors. Given that L-glutamate is the major excitatory neurotransmitter in the central nervous system, also associated with male sexual behavior as well as depression, we aimed to determine whether metabotropic glutamate receptors are involved in GD. Methods: We analyzed 74 single nucleotide polymorphisms located at the metabotropic glutamate receptors (mGluR1, mGluR3, mGluR4, mGluR5, mGluR7 and mGluR8) in 94 transgender versus 94 cisgender people. The allele and genotype frequencies were analyzed by c2 test contrasting male and female cisgender and transgender populations. The strength of the associations was measured by binary logistic regression, estimating the odds ratio (OR) for each genotype. Measurement of linkage disequilibrium, and subsequent measurement of haplotype frequencies were also performed considering three levels of significance: P ≤ 0.05, P ≤ 0.005 and P ≤ 0.0005. Furthermore, false positives were controlled with the Bonferroni correction (P ≤ 0.05/74 = 0.00067). Results: After analysis of allele and genotypic frequencies, we found twenty-five polymorphisms with significant differences at level P ≤ 0.05, five at P ≤ 0.005 and two at P ≤ 0.0005. Furthermore, the only two polymorphisms (rs9838094 and rs1818033) that passed the Bonferroni correction were both related to the metabotropic glutamate receptor 7 (mGluR7) and showed significant differences for multiple patterns of inheritance. Moreover, the haplotype T/G [OR=0.34 (0.19-0.62); P<0.0004] had a lower representation in the transgender population than in the cisgender population, with no evidence of sex cross-interaction. Conclusion: We provide genetic evidence that the mGluR7, and therefore glutamatergic neurotransmission, may be involved in GI and GD.

Silicon as a Functional Meat Ingredient Improves Jejunal and Hepatic Cholesterol Homeostasis in a Late-Stage Type 2 Diabetes Mellitus Rat Model.

Silicon included in a restructured meat (RM) matrix (Si-RM) as a functional ingredient has been demonstrated to be a potential bioactive antidiabetic compound. However, the jejunal and hepatic molecular mechanisms by which Si-RM exerts its cholesterol-lowering effects remain unclear. Male Wistar rats fed an RM included in a high-saturated-fat high-cholesterol diet (HSFHCD) combined with a low dose of streptozotocin plus nicotinamide injection were used as late-stage type 2 diabetes mellitus (T2DM) model. Si-RM was included into the HSFHCD as a functional food. An early-stage TD2M group fed a high-saturated-fat diet (HSFD) was taken as reference. Si-RM inhibited the hepatic and intestinal microsomal triglyceride transfer protein (MTP) reducing the apoB-containing lipoprotein assembly and cholesterol absorption. Upregulation of liver X receptor (LXRα/ß) by Si-RM turned in a higher low-density lipoprotein receptor (LDLr) and ATP-binding cassette transporters (ABCG5/8, ABCA1) promoting jejunal cholesterol efflux and transintestinal cholesterol excretion (TICE), and facilitating partially reverse cholesterol transport (RCT). Si-RM decreased the jejunal absorptive area and improved mucosal barrier integrity. Consequently, plasma triglycerides and cholesterol levels decreased, as well as the formation of atherogenic lipoprotein particles. Si-RM mitigated the dyslipidemia associated with late-stage T2DM by Improving cholesterol homeostasis. Silicon could be used as an effective nutritional approach in diabetic dyslipidemia management.

Correlation of plasmatic sodium determined by the laboratory and that determined by the dialysis machine.

INTRODUCTION: Changes in plasma sodium concentration (pNa, expressed in mEq/L) are common in hemodialysis (HD) patients. Hemodialysis monitors can estimate pNa by using an internal algorithm based on ion dialysance measurements. The present study studies the accuracy of the correlation between the pNa estimated by the dialysis monitor and that measured by the biochemistry laboratory at our center. MATERIAL AND METHODS: A single-centre prospective observational study in patients on a chronic HD program with the 6008 CAREsystem monitor and standard sodium (138mmol/L) and bicarbonate (32mmol/L) prescriptions. Venous blood samples were drawn from each patient before and after each HD session to ensure inter- and intra-individual validity. The pNa was measured in the biochemistry laboratory using indirect potentiometry and simultaneously the estimated pNa by the HD monitor was recorded at the beginning and at the end of the HD session. For statistical analysis, a scatterplot was made, and Spearman's correlation quotient was calculated. In addition, the differences between both methods were represented as Bland-Altman diagrams. RESULTS: The pre-dialysis pNa measured in the laboratory was 137.49±3.3, and that of the monitor, 137.96±2.91, with a correlation with R2 value of 0.683 (p<0.001). The post-dialysis pNa measured in the laboratory was 137.08±2.23, and that of the monitor was 138.87±1.88, with an R2 of 0.442 (p<0.001). On the Bland-Altman plots, the pre-dialysis pNa has a systematic error of 0.49, in favor of the monitor-estimated pNa, with a 95% confidence interval (CI) of (-3.24 to a 4.22). In the post-dialysis pNa, a systematic error of 1.79 with a 95% CI of (-1.64 to 5.22) was obtained. CONCLUSION: The correlation between the pNa estimated by Fresnius 6008 CAREsystem HD monitor and that measured by the laboratory is good, especially pre-dialysis measurements. Further studies should verify the external validity of these results.

Addressing Sexually Transmitted Infections Due to Neisseria gonorrhoeae in the Present and Future.

It was in the 1800s when the first public publications about the infection and treatment of gonorrhoea were released. However, the first prevention programmes were only published a hundred years later. In the 1940s, the concept of vaccination was introduced into clinical prevention programmes to address early sulphonamide resistance. Since then, tons of publications on Neisseria gonorrhoeae are undisputed, around 30,000 publications today. Currently, the situation seems to be just as it was in the last century, nothing has changed or improved. So, what are we doing wrong? And more importantly, what might we do? The review presented here aims to review the current situation regarding the resistance mechanisms, prevention programmes, treatments, and vaccines, with the challenge of better understanding this special pathogen. The authors have reviewed the last five years of advancements, knowledge, and perspectives for addressing the Neisseria gonorrhoeae issue, focusing on new therapeutic alternatives.

Cost-effectiveness Analysis of Maternal Immunization with RSVpreF Vaccine for the Prevention of Respiratory Syncytial Virus Among Infants in Spain.

INTRODUCTION: Respiratory syncytial virus (RSV) is the leading cause of acute lower respiratory infections (ALRI) in children under one year of age. In high-income countries, RSV infections cause a significant overload of care every winter, imposing a significant burden to the healthcare system, which has made the development of prevention strategies a major global health priority. In this context, a new bivalent RSV prefusion F protein-based vaccine (RSVpreF) has recently been approved. The objective of this study was to evaluate the cost-effectiveness of vaccinating pregnant women with the RSVpreF vaccine to prevent RSV in infants from the Spanish National Healthcare System (NHS) perspective. METHODS: A hypothetical cohort framework and a Markov-type process were used to estimate clinical outcomes, costs, quality-adjusted life years (QALY) and cost-per-QALY gained (willingness-to-pay threshold: €25,000/QALY) for newborn infants born to RSV-vaccinated versus unvaccinated mothers over an RSV season. The base case analysis was performed from the NHS perspective including direct costs (€2023) and applying a discount of 3% to future costs and outcomes. To evaluate the robustness of the model, several scenarios, and deterministic and probabilistic analyses were carried out. All the parameters and assumptions were validated by a panel of experts. RESULTS: The results of the study showed that year-round maternal vaccination program with 70% coverage is a dominant option compared to no intervention, resulting in direct cost savings of €1.8 million each year, with an increase of 551 QALYs. Maternal vaccination could prevent 38% of hospital admissions, 23% of emergency room visits, 19% of primary care visits, and 34% of deaths due to RSV. All scenario analyses showed consistent results, and according to the probabilistic sensitivity analysis (PSA), the probability of maternal vaccination being cost-effective versus no intervention was 99%. CONCLUSIONS: From the Spanish NHS perspective, maternal vaccination with bivalent RSVpreF is a dominant alternative compared with a non-prevention strategy.

Unveiling the hidden viromes across the animal tree of life: insights from a taxonomic classification pipeline applied to invertebrates of 31 metazoan phyla.

Invertebrates constitute the majority of animal species on Earth, including most disease-causing agents or vectors, with more diverse viromes when compared to vertebrates. Recent advancements in high-throughput sequencing have significantly expanded our understanding of invertebrate viruses, yet this knowledge remains biased toward a few well-studied animal lineages. In this study, we analyze invertebrate DNA and RNA viromes for 31 phyla using 417 publicly available RNA-Seq data sets from diverse environments in the marine-terrestrial and marine-freshwater gradients. This study aims to (i) estimate virome compositions at the family level for the first time across the animal tree of life, including the first exploration of the virome in several phyla, (ii) quantify the diversity of invertebrate viromes and characterize the structure of invertebrate-virus infection networks, and (iii) investigate host phylum and habitat influence on virome differences. Results showed that a set of few viral families of eukaryotes, comprising Retroviridae, Flaviviridae, and several families of giant DNA viruses, were ubiquitous and highly abundant. Nevertheless, some differences emerged between phyla, revealing for instance a less diverse virome in Ctenophora compared to the other animal phyla. Compositional analysis of the viromes showed that the host phylum explained over five times more variance in composition than its habitat. Moreover, significant similarities were observed between the viromes of some phylogenetically related phyla, which could highlight the influence of co-evolution in shaping invertebrate viromes.IMPORTANCEThis study significantly enhances our understanding of the global animal virome by characterizing the viromes of previously unexamined invertebrate lineages from a large number of animal phyla. It showcases the great diversity of viromes within each phylum and investigates the role of habitat shaping animal viral communities. Furthermore, our research identifies dominant virus families in invertebrates and distinguishes phyla with analogous viromes. This study sets the road toward a deeper understanding of the virome across the animal tree of life.

Predicting the Length of Mechanical Ventilation in Acute Respiratory Disease Syndrome Using Machine Learning: The PIONEER Study.

Background: The ability to predict a long duration of mechanical ventilation (MV) by clinicians is very limited. We assessed the value of machine learning (ML) for early prediction of the duration of MV > 14 days in patients with moderate-to-severe acute respiratory distress syndrome (ARDS). Methods: This is a development, testing, and external validation study using data from 1173 patients on MV ≥ 3 days with moderate-to-severe ARDS. We first developed and tested prediction models in 920 ARDS patients using relevant features captured at the time of moderate/severe ARDS diagnosis, at 24 h and 72 h after diagnosis with logistic regression, and Multilayer Perceptron, Support Vector Machine, and Random Forest ML techniques. For external validation, we used an independent cohort of 253 patients on MV ≥ 3 days with moderate/severe ARDS. Results: A total of 441 patients (48%) from the derivation cohort (n = 920) and 100 patients (40%) from the validation cohort (n = 253) were mechanically ventilated for >14 days [median 14 days (IQR 8-25) vs. 13 days (IQR 7-21), respectively]. The best early prediction model was obtained with data collected at 72 h after moderate/severe ARDS diagnosis. Multilayer Perceptron risk modeling identified major prognostic factors for the duration of MV > 14 days, including PaO2/FiO2, PaCO2, pH, and positive end-expiratory pressure. Predictions of the duration of MV > 14 days showed modest discrimination [AUC 0.71 (95%CI 0.65-0.76)]. Conclusions: Prolonged MV duration in moderate/severe ARDS patients remains difficult to predict early even with ML techniques such as Multilayer Perceptron and using data at 72 h of diagnosis. More research is needed to identify markers for predicting the length of MV. This study was registered on 14 August 2023 at ClinicalTrials.gov (NCT NCT05993377).

Characteristics of gastrointestinal stromal tumors associated to other tumors / Características de los tumores del estroma gastrointestinal asociados a otras neoplasias

Introduction: Our aim is to analyze the differences between sporadic gastrointestinal stromal tumors and those associated with other tumors. Methods: Retrospective cohort study including patients with diagnosis of gastrointestinal stromal tumors operated at our center. Patients were divided into two groups, according to whether or not they had associated other tumors, both synchronously and metachronously. Disease free survival and overall survival were calculated for both groups. Results: 96 patients were included, 60 (62.5%) were male, with a median age of 66.8 years (35–84). An association with other tumors was found in 33 cases (34.3%); 12 were synchronous (36.3%) and 21 metachronous (63.7%). The presence of mutations in associated tumors was 70% and in non-associated tumors 75%. Associated tumors were classified as low risk tumors based on Fletcher's stratification scale (p=0.001) as they usually were smaller in size and had less than ≤5 mitosis per 50 HPF compared to non-associated tumors. When analyzing overall survival, there were statistically significant differences (p=0.035) between both groups. Conclusion: The relatively high proportion of gastrointestinal stromal tumors cases with associated tumors suggests the need to carry out a study to rule out presence of a second neoplasm and a long-term follow-up should be carried out in order to diagnose a possible second neoplasm. Gastrointestinal stromal tumors associated with other tumors have usually low risk of recurrence with a good long-term prognosis.(AU)

Introducción: El objetivo de este estudio es analizar si existen diferencias entre los GIST esporádicos y los que se presentan asociados a otros tumores. Métodos: Estudio de cohorte retrospectivo de pacientes operados de tumores del estroma gastrointestinal (GIST) en nuestro centro. Se dividió a los pacientes en función de si presentaban otros tumores asociados o no, de forma sincrónica o metacrónica. La supervivencia libre de enfermedad y la supervivencia global se calcularon en ambos grupos. Resultados: Se incluyeron un total de 96 pacientes, 60 (62,5%) eran hombres con una media de edad de 66,8 años (35-84). Se encontró una asociación con otros tumores en 33 casos (34,3%); 12 de manera sincrónica (36,3%) y 21 metacrónica (63,7%). La presencia de mutaciones en el grupo de tumores asociados fue de 70% y en el de no asociados de 75%. Los tumores asociados se clasificaron como tumores de bajo riesgo según la escala de Fletcher (p = 0,001), ya que fueron de menor tamaño y presentaron menos de ≤ 5 mitosis por 50 HPF en comparación con los no asociados. Al analizar la supervivencia global, hubo diferencias estadísticamente significativas entre ambos grupos (p = 0,035). Conclusión: La proporción relativamente alta de casos de GIST con tumores asociados sugiere la necesidad de realizar un estudio para descartar la presencia de una segunda neoplasia y, tras el tratamiento de GIST, elaborar un seguimiento a largo plazo para diagnosticar una posible segunda neoplasia. Los GIST asociados a otros tumores suelen tener un riesgo bajo de recurrencia con un buen pronóstico a largo plazo.(AU)

Highly dynamic evolution of the chemosensory system driven by gene gain and loss across subterranean beetles.

Chemical cues in subterranean habitats differ highly from those on the surface due to the contrasting environmental conditions, such as absolute darkness, high humidity or food scarcity. Subterranean animals underwent changes to their sensory systems to facilitate the perception of essential stimuli for underground lifestyles. Despite representing unique systems to understand biological adaptation, the genomic basis of chemosensation across cave-dwelling species remains unexplored from a macroevolutionary perspective. Here, we explore the evolution of chemoreception in three beetle tribes that underwent at least six independent transitions to the underground, through a phylogenomics spyglass. Our findings suggest that the chemosensory gene repertoire varies dramatically between species. Overall, no parallel changes in the net rate of evolution of chemosensory gene families were detected prior, during, or after the habitat shift among subterranean lineages. Contrarily, we found evidence of lineage-specific changes within surface and subterranean lineages. However, our results reveal key duplications and losses shared between some of the lineages transitioning to the underground, including the loss of sugar receptors and gene duplications of the highly conserved ionotropic receptors IR25a and IR8a, involved in thermal and humidity sensing among other olfactory roles in insects. These duplications were detected both in independent subterranean lineages and their surface relatives, suggesting parallel evolution of these genes across lineages giving rise to cave-dwelling species. Overall, our results shed light on the genomic basis of chemoreception in subterranean beetles and contribute to our understanding of the genomic underpinnings of adaptation to the subterranean lifestyle at a macroevolutionary scale.

Characteristics of gastrointestinal stromal tumors associated to other tumors: Características de los tumores del estroma gastrointestinal asociados a otras neoplasias.

INTRODUCTION: Our aim is to analyze the differences between sporadic gastrointestinal stromal tumors and those associated with other tumors. METHODS: Retrospective cohort study including patients with diagnosis of gastrointestinal stromal tumors operated at our center. Patients were divided into two groups, according to whether or not they had associated other tumors, both synchronously and metachronously. Disease free survival and overall survival were calculated for both groups. RESULTS: 96 patients were included, 60 (62.5%) were male, with a median age of 66.8 (35-84). An association with other tumors was found in 33 cases (34.3%); 12 were synchronous (36.3%) and 21 metachronous (63.7%). The presence of mutations in associated tumors was 70% and in non-associated tumors 75%. Associated tumors were classified as low risk tumors based on Fletcher's stratification scale (p = 0.001) as they usually were smaller in size and had less than ≤5 mitosis per 50 HPF compared to non-associated tumors. When analyzing overall survival, there were statistically significant differences (p = 0,035) between both groups. CONCLUSION: The relatively high proportion of gastrointestinal stromal tumors cases with associated tumors suggests the need to carry out a study to rule out presence of a second neoplasm and a long-term follow-up should be carried out in order to diagnose a possible second neoplasm. Gastrointestinal stromal tumors associated with other tumors have usually low risk of recurrence with a good long-term prognosis.

CBLL1 is hypomethylated and correlates with cortical thickness in transgender men before gender affirming hormone treatment.

Gender identity refers to the consciousness of being a man, a woman or other condition. Although it is generally congruent with the sex assigned at birth, for some people it is not. If the incongruity is distressing, it is defined as gender dysphoria (GD). Here, we measured whole-genome DNA methylation by the Illumina © Infinium Human Methylation 850k array and reported its correlation with cortical thickness (CTh) in 22 transgender men (TM) experiencing GD versus 25 cisgender men (CM) and 28 cisgender women (CW). With respect to the methylation analysis, TM vs. CW showed significant differences in 35 CpGs, while 2155 CpGs were found when TM vs. CM were compared. With respect to correlation analysis, TM showed differences in methylation of CBLL1 and DLG1 genes that correlated with global and left hemisphere CTh. Both genes were hypomethylated in TM compared to the cisgender groups. Early onset TM showed a positive correlation between CBLL1 and several cortical regions in the frontal (left caudal middle frontal), temporal (right inferior temporal, left fusiform) and parietal cortices (left supramarginal and right paracentral). This is the first study relating CBLL1 methylation with CTh in transgender persons and supports a neurodevelopmental hypothesis of gender identity.

How can we improve the quality of health care in hospital attendance of medically complex children? / ¿Cómo podemos mejorar la calidad de la atención hospitalaria de los pacientes crónicos complejos en pediatría?

Hospital care of medically complex children (MCC) is increasing, although its real prevalence in Spain is unknown. OBJECTIVE: to analyze hospital admissions and outpatient follow-up of MCC in order to identify strategies to improve the quality of care of MCC. PATIENTS AND METHOD: An analytical, observational, and retrospective study was carried out. We included MCC who were admitted to Pediatric Hospitalization in the last 5 years, in a tertiary hospital without a specific unit for MCC. Clinical data related to their underlying pathology, outpatient visits, and hospital admissions were collected. A multivariate study was carried out to describe risk factors of the need for technological support and to predict prolonged admissions and the hospital consultation rate. RESULTS: 99 MCC (55.6% males) aged 3.9 (2-8) years were included. 41.4% of MCC required technological support at home and presented the highest number of comorbidities, hospital admissions, and care by different specialists (p < 0.01). Older MCC (p < 0.01) with underlying digestive disease (p < 0.04) and respiratory comorbidity (p < 0.04) presented a longer mean hospital stays. Younger patients with more admissions, longer average stay, and a lack of follow-up by the link nurse were associated with a greater number of annual consultations (p < 0.05). CONCLUSIONS: MCC require a high number of annual consultations and have long hospital stays. The creation of specialized consultations for MCC, multidisciplinary care, and the participation of the link nurse are strategies to improve the quality of care for MCC in hospitals without specific MCC units.

Documento de posicionamiento de la «Societat Catalana de Digestologia» sobre elastografía hepática 2022 / Clinical practice guidelines of the Catalan Society of Gastroenterology about hepatic elastography 2022

Introducción: Después de casi 20 años utilizando la elastografía de transición para el diagnóstico no invasivo de la fibrosis hepática, su uso se ha extendido al cribado poblacional, la evaluación de la esteatosis y las complicaciones de la cirrosis. Por ello, la «Societat Catalana de Digestologia» encargó a un grupo de expertos actualizar el primer Documento realizado en 2011. Material y métodos: El grupo de trabajo (8 médicos y 4 enfermeras) elaboró un panel de preguntas en base a la encuesta online «Elastografía Hepática en Cataluña 2022» siguiendo la estructura PICO y el método Delphi. Resultados: Las respuestas se presentan con el nivel de evidencia, el grado de recomendación y el consenso final tras ser evaluadas por 2 revisores externos. Conclusión: La elastografía de transición utiliza el método elastográfico más sencillo y fiable para cuantificar la fibrosis hepática, evaluar la esteatosis y conocer el riesgo de complicaciones en pacientes con cirrosis. El documento ha sido avalado por la «Societat Catalana de Digestologia» y el «Col legi Oficial d’Infermeres i Infermers de Barcelona». (AU)

Introduction: After almost 20 years using transient elastography (TE) for the non-invasive diagnosis of liver fibrosis, its use has been extended to population screening, evaluation of steatosis and complications of cirrhosis. For this reason, the «Catalan Society of Gastroenterology» commissioned a group of experts to update the first document carried out in 2011. Material and methods: The working group (8 doctors and 4 nurses) prepared a panel of questions based on the online survey «Hepatic Elastography in Catalonia 2022» following the PICO structure and the Delphi method. Results: The answers are presented with the level of evidence, the degree of recommendation and the final consensus after being evaluated by two external reviewers. Conclusion: Transient elastography uses the simplest and most reliable elastographic method to quantify liver fibrosis, assess steatosis, and determine the risk of complications in patients with cirrhosis. The document has been endorsed by the “Catalan Society of Gastroenterology” and the “Col·legi Oficial d’Infermeres i Infermers de Barcelona”. (AU)

Genomic Insights into Mollusk Terrestrialization: Parallel and Convergent Gene Family Expansions as Key Facilitators in Out-of-the-Sea Transitions.

Animals abandoned their marine niche and successfully adapted to life on land multiple times throughout evolution, providing a rare opportunity to study the mechanisms driving large scale macroevolutionary convergence. However, the genomic factors underlying this process remain largely unknown. Here, we investigate the macroevolutionary dynamics of gene repertoire evolution during repeated transitions out of the sea in mollusks, a lineage that has transitioned to freshwater and terrestrial environments multiple independent times. Through phylogenomics and phylogenetic comparative methods, we examine ∼100 genomic data sets encompassing all major molluskan lineages. We introduce a conceptual framework for identifying and analyzing parallel and convergent evolution at the orthogroup level (groups of genes derived from a single ancestral gene in the species in question) and explore the extent of these mechanisms. Despite deep temporal divergences, we found that parallel expansions of ancient gene families played a major role in facilitating adaptation to nonmarine habitats, highlighting the relevance of the preexisting genomic toolkit in facilitating adaptation to new environments. The expanded functions primarily involve metabolic, osmoregulatory, and defense-related systems. We further found functionally convergent lineage-exclusive gene gains, while family contractions appear to be driven by neutral processes. Also, genomic innovations likely contributed to fuel independent habitat transitions. Overall, our study reveals that various mechanisms of gene repertoire evolution-parallelism, convergence, and innovation-can simultaneously contribute to major evolutionary transitions. Our results provide a genome-wide gene repertoire atlas of molluskan terrestrialization that paves the way toward further understanding the functional and evolutionary bases of this process.

Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review.

Lysinuric protein intolerance (LPI) is a rare inborn error of metabolism (IEM), classified as an inherited aminoaciduria, caused by mutations in the SLC7A7 gene, leading to a defective cationic amino acid transport. The metabolic adaptations to the demands of pregnancy and delivery cause significant physiological stress, so those patients affected by IEM are at greater risk of decompensation. A 28-year-old woman with LPI had experienced 3 early miscarriages. While pregnancy was finally achieved, diverse nutritional and medical challenges emerged (food aversion, intrauterine growth restriction, bleeding risk, and preeclampsia suspicion), which put both the mother and the fetus at risk. Moreover, the patient requested a natural childbirth (epidural-free, delayed cord clamping). Although the existence of multiple safety concerns rejected this approach at first, the application of novel strategies made a successful delivery possible. This case reinforces that the woman's wish for a non-medicated, low-intervention natural birth should not be automatically discouraged because of an underlying complex metabolic condition. Achieving a successful pregnancy is conceivable thanks to the cooperation of interdisciplinary teams, but it is still important to consider the risks beforehand in order to be prepared for possible additional complications.