Usefulness of Body Fat and Visceral Fat Determined by Bioimpedanciometry versus Body Mass Index and Waist Circumference in Predicting Elevated Values of Different Risk Scales for Non-Alcoholic Fatty Liver Disease.

BACKGROUND: Obesity constitutes a public health problem worldwide and causes non-alcoholic fatty liver disease (MALFD), the leading cause of liver disease in developed countries, which progresses to liver cirrhosis and liver cancer. MAFLD is associated with obesity and can be evaluated by validated formulas to assess MAFLD risk using different parameters such as the body mass index (BMI) and waist circumference (WC). However, these parameters do not accurately measure body fat. As MAFLD is strongly associated with obesity, we hypothesize that measuring body and visceral fat by electrical bioimpedance is an efficient method to predict the risk of MAFLD. The objective of our work was to demonstrate that electrical bioimpedance is a more efficient method than the BMI or WC to predict an elevated risk of MAFLD. METHODS: A cross-sectional, descriptive study involving 8590 Spanish workers in the Balearic Islands was carried out. The study's sample of employees was drawn from those who underwent occupational medicine examinations between January 2019 and December 2020. Five MAFLD risk scales were determined for evaluating very high levels of body fat and visceral fat. The determination of body and visceral fat was performed using bioimpedanciometry. Student's t-test was employed to ascertain the mean and standard deviation of quantitative data. The chi-square test was used to find prevalences for qualitative variables, while ROC curves were used to define the cut-off points for body and visceral fat. The calculations included the area under the curve (AUC), the cut-off points along with their Youden index, sensitivity, and specificity. Correlation and concordance between the various scales were determined using Pearson's correlation index and Cohen's kappa, respectively. RESULTS: As both total body fat and visceral fat increase, the risk of MAFLD increases with a statistically significant result (p < 0.001), presenting a higher risk in men. The areas under the curve (AUC) of the five scales that assess overweight and obesity to determine the occurrence of high values of the different MAFLD risk scales were very high, most of them exceeding 0.9. These AUC values were higher for visceral and body fat than for the BMI or waist circumference. FLD-high presented the best results in men and women with the AUC at around 0.97, both for visceral fat and total body fat, with a high Youden index in all cases (women body fat = 0.830, visceral fat = 0.892; men body fat = 0.780, visceral fat = 0.881). CONCLUSIONS: In our study, all the overweight and obesity scales show a very good association with the scales assessing the risk of MAFLD. These values are higher for visceral and body fat than for waist circumference and the BMI. Both visceral fat and body fat are better associated than the BMI and waist circumference with MAFLD risk scales.

Computer simulation study of nutrient-driven bacterial biofilm stratification.

Here, employing computer simulation tools, we present a study on the development of a bacterial biofilm from a single starter cell on a flat inert surface overlaid by an aqueous solution containing nutrients. In our simulations, surface colonization involves an initial stage of two-dimensional cell proliferation to eventually transition to three-dimensional growth leading to the formation of biofilm colonies with characteristic three-dimensional semi-ellipsoids shapes. Thus, we have introduced the influence of the nutrient concentration on bacterial growth, and calculated the cell growth rate as a function of nutrient uptake, which in turn depends on local nutrient concentration in the vicinity of each bacterial cell. Our results show that the combination of cell growth and nutrient uptake and diffusion leads to the formation of stratified colonies containing an inner core in which nutrients are depleted and cells cannot grow or divide, surrounded by an outer, shallow crust in which cells have access to nutrients from the bulk medium and continue growing. This phenomenon is more apparent at high uptake rates that enable fast nutrient depletion. Our simulations also predict that the shape and internal structure of the biofilm are largely conditioned by the balance between nutrient diffusion and uptake.

Seizures in Children With Severe Acute Respiratory Syndrome Coronavirus 2 Infection.

BACKGROUND: Although respiratory symptoms are the most prominent manifestations of coronavirus disease 2019 (COVID-19), severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and especially the omicron variant, may cause neurological manifestations such as seizures. It remains unclear if specific variants of the virus increase the risk of seizures more than others. MATERIAL AND METHODS: This was a retrospective multicenter study of pediatric (zero to 16 years) patients with COVID-19 who attended five pediatric emergency departments in Madrid, Spain, between March 2020 and July 2022. An analysis of demographics, medical history, and seizure characteristics was conducted. The data obtained were correlated with the incidence of the different strains of SARS-CoV-2 in the Community of Madrid. RESULTS: A total of 2411 seizures (infectious and noninfectious) were recorded, and 35 of them (1.4%) were positive for SARS-CoV-2. Of those 35 patients, 18 (51.4%) reported a history of previous seizures. The highest percentage of cases occurred when the omicron variant was the most prevalent (28 [80%] vs 7 [20%] before omicron variant). Typical febrile seizures accounted for 52.9% of the cases. No treatment was required in more than half (57.1%) of the cases. CONCLUSION: during the emergence of the omicron variant, there has been an increase in the number of COVID-19-associated seizures. These findings highlight the need for SARS-CoV-2 screening in patients with febrile and afebrile seizures, in addition to other microbiological, biochemical, or neuroimaging tests, depending on the patient's age and clinical presentation.

The Effect of a Program to Improve Adherence to the Mediterranean Diet on Cardiometabolic Parameters in 7034 Spanish Workers.

BACKGROUND: Cardiovascular and metabolic diseases include a large group of pathologies and constitute one of the most serious chronic health problems facing the 21st century, with high rates of morbidity and mortality worldwide. Unhealthy diets influence the development of these pathologies. The Mediterranean diet can be an important part in the treatment of these diseases. The objective of this study was to assess the effect of a program that aims to increase adherence to the Mediterranean diet on the improvement of different cardiometabolic risk parameters. METHODS: A prospective intervention study was carried out on 7034 Spanish workers. Prior to the intervention, 22 cardiometabolic risk scales were evaluated. Participants in this study were informed both orally and in writing of the characteristics and benefits of the Mediterranean diet and were given the website of the Ministry of Health, Consumption and Social Welfare of Spain, which provides advice on nutrition. Adherence to the Mediterranean diet was reinforced by sending a monthly SMS to their mobile phones. After six months of follow-up, the 22 risk scales were re-evaluated to assess changes. Means and standard deviations were calculated using Student's t test to analyse quantitative variables. Prevalence was calculated using the Chi-square test when the variables were qualitative. RESULTS: All the cardiometabolic risk scales studied decreased after implementing a program to improve and enhance adherence to the Mediterranean diet. The number of losses in the sample was very low, standing at 4.31%. CONCLUSIONS: The Mediterranean diet is effective in reducing all cardiovascular risk scales evaluated. The mean values and prevalence of high values of the different cardiometabolic risk scales analysed led to lower values after the implementation of the program to increase adherence to the Mediterranean diet. We observed a significant positive difference in metabolic age in both sexes. We have obtained a significant improvement in the insulin resistance index, especially in the SPISE-IR index, data that we have not found in previous publications. Easy access to the Internet and new information and communication technologies facilitate adherence to a diet and can reduce the number of losses.

Effect of salinity on scytonemin yield in endolithic cyanobacteria from the Atacama Desert.

Cyanobacteria inhabiting extreme environments constitute a promising source for natural products with biotechnological applications. However, they have not been studied in-depth for this purpose due to the difficulties in their isolation and mass culturing. The Atacama Desert suffers one of the highest solar irradiances that limits the presence of life on its hyperarid core to endolithic microbial communities supported by cyanobacteria as primary producers. Some of these cyanobacteria are known to produce scytonemin, a UV-screening liposoluble pigment with varied biotechnological applications in cosmetics and other industries. In this work we carried out a strain selection based on growth performance among 8 endolithic cyanobacteria of the genera Chroococcidiopsis, Gloeocapsa and Gloeocapsopsis isolated from non-saline rocks of the Atacama Desert. Then we investigated the influence of NaCl exposure on scytonemin production yield. Results in the selected strain (Chroococcidiopsis sp. UAM571) showed that rising concentrations of NaCl lead to a growth decrease while triggering a remarkable increase in the scytonemin content, reaching maximum values at 20 g L-1 of NaCl over 50-fold higher scytonemin contents than those obtained without NaCl. Altogether, these findings point out to cyanobacteria from the Atacama Desert as potentially suitable candidates for pilot-scale cultivation with biotechnological purposes, particularly to obtain scytonemin.

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

ABSTRACT: For monogenic diseases caused by pathogenic loss-of-function DNA variants, attention focuses on dysregulated gene-specific pathways, usually considering molecular subtypes together within causal genes. To better understand phenotypic variability in hereditary hemorrhagic telangiectasia (HHT), we subcategorized pathogenic DNA variants in ENG/endoglin, ACVRL1/ALK1, and SMAD4 if they generated premature termination codons (PTCs) subject to nonsense-mediated decay. In 3 patient cohorts, a PTC-based classification system explained some previously puzzling hemorrhage variability. In blood outgrowth endothelial cells (BOECs) derived from patients with ACVRL1+/PTC, ENG+/PTC, and SMAD4+/PTC genotypes, PTC-containing RNA transcripts persisted at low levels (8%-23% expected, varying between replicate cultures); genes differentially expressed to Bonferroni P < .05 in HHT+/PTC BOECs clustered significantly only to generic protein terms (isopeptide-bond/ubiquitin-like conjugation) and pulse-chase experiments detected subtle protein maturation differences but no evidence for PTC-truncated protein. BOECs displaying highest PTC persistence were discriminated in unsupervised hierarchical clustering of near-invariant housekeeper genes, with patterns compatible with higher cellular stress in BOECs with >11% PTC persistence. To test directionality, we used a HeLa reporter system to detect induction of activating transcription factor 4 (ATF4), which controls expression of stress-adaptive genes, and showed that ENG Q436X but not ENG R93X directly induced ATF4. AlphaFold accurately modeled relevant ENG domains, with AlphaMissense suggesting that readthrough substitutions would be benign for ENG R93X and other less rare ENG nonsense variants but more damaging for Q436X. We conclude that PTCs should be distinguished from other loss-of-function variants, PTC transcript levels increase in stressed cells, and readthrough proteins and mechanisms provide promising research avenues.

A Computer Vision-Based System to Help Health Professionals to Apply Tests for Fall Risk Assessment.

The increase in life expectancy, and the consequent growth of the elderly population, represents a major challenge to guarantee adequate health and social care. The proposed system aims to provide a tool that automates the evaluation of gait and balance, essential to prevent falls in older people. Through an RGB-D camera, it is possible to capture and digitally represent certain parameters that describe how users carry out certain human motions and poses. Such individual motions and poses are actually related to items included in many well-known gait and balance evaluation tests. According to that information, therapists, who would not need to be present during the execution of the exercises, evaluate the results of such tests and could issue a diagnosis by storing and analyzing the sequences provided by the developed system. The system was validated in a laboratory scenario, and subsequently a trial was carried out in a nursing home with six residents. Results demonstrate the usefulness of the proposed system and the ease of objectively evaluating the main items of clinical tests by using the parameters calculated from information acquired with the RGB-D sensor. In addition, it lays the future foundations for creating a Cloud-based platform for remote fall risk assessment and its integration with a mobile assistant robot, and for designing Artificial Intelligence models that can detect patterns and identify pathologies for enabling therapists to prevent falls in users under risk.

A new updated prognostic index for patients with brain metastases (BMs) treated with palliative whole brain radiotherapy (WBRT) in the era of precision oncology. METASNCore project.

INTRODUCTION: Palliative WBRT is the main treatment for multiple BMs. Recent studies report no benefit in survival after WBRT compared to palliative supportive care in patients (pts) with poor prognosis. A new era of systemic treatment strategies based on targeted therapies are improving the prognosis of patients with BMs. The purpose of this study is to develop a prognostic score in palliative pts with BMs who undergo WBRT in this new setting. METHODS: 239 pts with BMs who received palliative WBRT between 2013-2022 in our center were analyzed retrospectively. The score was designed according to the value of the ß coefficient of each variable with statistical significance in the multivariate model using Cox regression. Once the score was established, a comparison was performed according to Kaplan-Meier and was analyzed by log-rank test. RESULTS: 149 pts (62.3%) were male and median (m) age was 60 years. 139 (58,2%) were lung cancer and 35 (14,6%) breast cancer. All patients received 30Gys in 10 sessions. m overall survival (OS) was 3,74 months (ms). 37 pts (15,5%) had a specific target mutation. We found that 62 pts were in group < 4 points with mOS 6,89 ms (CI 95% 3,18-10,62), 84 in group 4-7 points with mOS 4,01 ms (CI 95% 3,40-4,62) and 92 pts in group > 7 points with mOS 2,72 ms (CI 95% 1,93-3,52) (p < 0,001). CONCLUSIONS: METASNCore items are associated with OS and they could be useful to select palliative pts to receive WBRT. More studies are necessary to corroborate our findings.

Malformación de Arnold Chiari / Arnold Chiari malformation

La malformación de Arnold Chiari es una enfermedad rara que consiste en una alteración anatómica de la base del cráneo, en la que se produce herniación del cerebelo y del tronco del encéfalo a través del foramen magnum hasta el canal cervical. Muchos niños afectados nunca llegan a tener síntomas. En el caso de que cause síntomas, estos no suelen aparecer hasta la infancia tardía o adolescencia. Presentamos el caso clínico de un paciente de 2 años con malformación de Arnold Chiari tipo I. (AU)

Arnold Chiari malformation is a rare disease that consists of an anatomical alteration of the base of the skull, in which herniation of the cerebellum and brainstem occurs through the foramen magnum to the cervical canal. Many affected children never develop symptoms. If it does cause symptoms, they usually don’t appear until late childhood or adolescence. We present the clinical case of a 2-year-old patient with Arnold Chiari malformation type I. (AU)

Persistence of atoms in molecules: there is room beyond electron densities.

Evidence that the electronic structure of atoms persists in molecules to a much greater extent than has been usually admitted is presented. This is achieved by resorting to N-electron real-space descriptors instead of one- or at most two-particle projections like the electron or exchange-correlation densities. Here, the 3N-dimensional maxima of the square of the wavefunction, the so-called Born maxima, are used. Since this technique is relatively unknown to the crystallographic community, a case-based approach is taken, revisiting first the Born maxima of atoms in their ground state and then some of their excited states. It is shown how they survive in molecules and that, beyond any doubt, the distribution of electrons around an atom in a molecule can be recognized as that of its isolated, in many cases excited, counterpart, relating this fact with the concept of energetic promotion. Several other cases that exemplify the applicability of the technique to solve chemical bonding conflicts and to introduce predictability in real-space analyses are also examined.

Safe Procedure for Efficient Hydrodynamic Gene Transfer to Isolated Porcine Liver in Transplantation.

Although calcineurin inhibitors are very effective as immunosuppressants in organ transplantation, complete graft acceptance remains as a challenge. Transfer of genes with immunosuppressant functions could contribute to improving the clinical evolution of transplantation. In this sense, hydrodynamic injection has proven very efficacious for liver gene transfer. In the present work, the hIL-10 gene was hydrofected 'ex vivo' to pig livers during the bench surgery stage, to circumvent the cardiovascular limitations of the procedure, in a model of porcine orthotopic transplantation with a 10-day follow-up. We used IL-10 because human and porcine proteins can be differentially quantified and for its immunomodulatory pleiotropic functions. Safety (biochemical parameters and histology), expression efficacy (RNA transcription and blood protein expression), and acute inflammatory response (cytokines panel) of the procedure were evaluated. The procedure proved safe as no change in biochemical parameters was observed in treated animals, and human IL-10 was efficaciously expressed, with stationary plasma protein levels over 20 pg/mL during the follow-up. Most studied cytokines showed increments (interferon-α, IFN-α; interleukin-1ß, IL-1ß; tumor necrosis factor α, TNFα; interleukin-6, IL-6; interleukin-8, IL-8; interleukin-4, IL-4; and transforming growth factor-ß, TGF-ß) in treated animals, without deleterious effects on tissue. Collectively, the results support the potential clinical interest in this gene therapy model that would require further longer-term dose-response studies to be confirmed.

High-performance diesel biodegradation using biogas digestate as microbial inoculum in lab-scale solid supported bioreactors.

Industrial anaerobic digestion (AD) produces biogas and a digestate that is usually applied as a biofertilizer. However, the study and application of this by-product in terms of its rich microbial diversity and high metabolic activity have been barely investigated. In this work, the digestate regarded as an inoculum-without any further manipulation-was faced to a target hydrocarbon (i.e., diesel oil) to explore its biodegradation capability and potential application in bioaugmentation strategies. Lab-scale single batch bioreactors with solid support (i.e., sand or gravel) embedded with the inoculum and diesel were used to improve bioaccessibility and biofilm formation. In addition, different experimental conditions were assayed varying the initial diesel concentration, microbial load, type of solid support, inoculum aging time, and presence or absence of oxygen. Remaining diesel concentration, dehydrogenase activity and microbial community structure were periodically determined. Remarkably, this low-cost consortium was capable of a significant reduction (>90%) in the concentration of diesel, within 14 days and when the initial load was as high as 6950 mg/kg dry solid support. Furthermore, a 10-fold increment in dehydrogenase activity, alongside an increase in the abundance of hydrocarbon-degrading bacterial groups, and the enrichment of genes for alkane monooxygenase and aromatic ring-hydroxylating dioxygenases, encourage further study of this consortium for bioremediation purposes.

Role of sex and gender-related variables in development of metabolic syndrome: A prospective cohort study.

INTRODUCTION: The burden of metabolic syndrome (MetS) and its components has been increasing mainly amongst male individuals. Nevertheless, clinical outcomes related to MetS (i.e., cardiovascular diseases), are worse among female individuals. Whether these sex differences in the components and sequalae of MetS are influenced by gender (i.e., psycho-socio-cultural factors)) is a matter of debate.  Therefore, the purpose of this study was to determine the association between gender-related factors and the development of MetS, and to assess if the magnitude of the associations vary by sex. METHOD: Data from the Colaus/PsyColaus study, a prospective population-based cohort of 6,734 middle-aged participants in Lausanne (Switzerland) (2003-2006) were used. The primary endpoint was the development of MetS as defined by the Adult Treatment Panel III of the National Cholesterol Education Program. Multivariable models were estimated using logistic regression to assess the association between gender-related factors and the development of MetS. Two-way interactions between sex,  age and gender-related factors were also tested. RESULTS: Among 5,195 participants without MetS (mean age=51.3 ± 10.6, 56.1 % females), 27.9 % developed MetS during a mean follow-up of 10.9 years. Female sex (OR:0.48, 95 %CI:0.41-0.55) was associated with decreased risk of developing MetS. Conversely, older age, educational attainment less than university, and low income were associated with an increased risk of developing MetS. Statistically significant interaction between sex and strata of age, education, income, smoking, and employment were identified showing that the reduced risk of MetS in female individuals was attenuated in the lowest education, income, and advanced age strata. However, females who smoke and reported being employed demonstrated a decreased risk of MetS compared to males. Conversely smoking and unemployment were significant risk factors for MetS development among male adults. CONCLUSIONS: Gender-related factors such as income level and educational attainment play a greater role in the development of MetS in female than individuals. These factors represent novel modifiable targets for implementation of sex- and gender-specific strategies to achieve health equity for all people.

Connectivity and molecular profiles of Foxp2- and Dbx1-lineage neurons in the accessory olfactory bulb and medial amygdala.

In terrestrial vertebrates, the olfactory system is divided into main (MOS) and accessory (AOS) components that process both volatile and nonvolatile cues to generate appropriate behavioral responses. While much is known regarding the molecular diversity of neurons that comprise the MOS, less is known about the AOS. Here, focusing on the vomeronasal organ (VNO), the accessory olfactory bulb (AOB), and the medial amygdala (MeA), we reveal that populations of neurons in the AOS can be molecularly subdivided based on their ongoing or prior expression of the transcription factors Foxp2 or Dbx1, which delineate separate populations of GABAergic output neurons in the MeA. We show that a majority of AOB neurons that project directly to the MeA are of the Foxp2 lineage. Using single-neuron patch-clamp electrophysiology, we further reveal that in addition to sex-specific differences across lineage, the frequency of excitatory input to MeA Dbx1- and Foxp2-lineage neurons differs between sexes. Together, this work uncovers a novel molecular diversity of AOS neurons, and lineage and sex differences in patterns of connectivity.

Integrating molecular microbial methods to improve faecal pollution management in rivers with designated bathing waters.

Rivers are at risk from a variety of pollution sources. Faecal pollution is of particular concern since it disperses pathogenic microorganisms in the aquatic environment. Currently, faecal pollution levels in rivers is monitored using faecal indicator bacteria (FIB) that do not offer information about pollution sources and associated risks. This study used a combined molecular approach, along with measurements of water quality, to gain information on pollution sources, and risk levels, in a newly designated recreational bathing site in the River Wharfe (UK). Physico-chemical parameters were monitored in situ, with water quality multiparameter monitoring sondes installed during the 2021 bathing season. The molecular approach was based on quantitative PCR (qPCR)-aided Microbial Source Tracking (MST) and 16S rRNA gene metabarcoding to obtain a fingerprint of bacterial communities and identify potential bioindicators. The analysis from the water quality sondes showed that ammonium was the main parameter determining the distribution of FIB values. Lower faecal pollution levels were detected in the main river when compared to tributaries, except for samples in the river located downstream of a wastewater treatment plant. The faecal pollution type (anthropogenic vs. zoogenic) changed the diversity and the structure of bacterial communities, giving a distinctive fingerprint that can be used to inform source. DNA-based methods showed that the presence of human-derived bacteria was associated with Escherichia coli spikes, coinciding with higher bacterial diversity and the presence of potential pathogenic bacteria mainly of the genus Mycobacterium, Aeromonas and Clostridium. Samples collected after a heavy rainfall event were associated with an increase in Bacteroidales, which are markers of faecal pollution, including Bacteroides graminisolvens, a ruminant marker associated with surface run-off from agricultural sources. The combined use of qPCR and 16S rRNA sequencing was able to identify pollution sources, and novel bacterial indicators, thereby aiding decision-making and management strategies in recreational bathing rivers.

Usefulness of ultrasound-guided serratus-anterior block in prevention of postoperative pain after breast surgery. A cohort study.

OBJECTIVE: To evaluate superficial serratus anterior plane block's efficacy and side effects in preventing postoperative pain after breast cancer surgery. METHODOLOGY: A prospective cohort study was conducted on 195 adult patients undergoing breast oncological surgery under general anesthesia (Group G, n = 96) or combined general anesthesia with superficial serratus anterior plane block (Group L, n = 99). Validated preoperative data, which are predictors of chronic postoperative pain of patients, were recorded (type of surgery, age, pain in the area of the intervention and the other regions; anesthetic-surgical data, analgesic doses used, duration of surgery; pain intensity (EVN scale) at immediate postoperative period, 24 h, seven days and one month after the surgery, and complications. RESULTS: Pain intensity, measured by the EVN scale, had a mean of 1.02 +/- 1.656 in the Postoperative Unit; 1.20 +/- 1.448 at 24 h; 0.76 +/- 1208 seven days; and 0.34 +/- 0.757 one month after surgery. Patients were operated under general anesthesia (n = 96) or general anesthesia combined with the interfascial block (n = 99). Significant differences (p < 0.05) were found in age, height, and VAS scale in PACU. Ten complications were recorded, six in Group L and four in Group G. There were no differences between groups in complications. CONCLUSIONS: Superficial serratus anterior plane blocks are effective and safe in pain control in the immediate postoperative period for breast cancer surgery as a part of the multimodal approach. No significant differences were found one week and one month after surgery.

Influence of anesthetic blockades on recurrence and spread of breast cancer / Influencia de los bloqueos anestésicos en la recidiva y diseminación del cáncer de mama

Introduction: Historically, pathological and laboratory factors are considered in the prognosis of breast cancer. Tumor resection surgery constitutes the main treatment, but paradoxically, the surgical manipulation and perioperative immunosuppression may predispose to cancer dissemination. Locoregional anesthetic techniques would avoid this immunosuppression, thus improving the oncologic outcomes of surgery. This study aimed to evaluate the prognostic influence of locoregional anesthesia on breast cancer dissemination and recurrence after surgery. Methods: A retrospective cohort study was performed on 165 centrolobulillar breast cancer patients, scheduled for non-reconstructive breast oncologic surgery between 2012 and 2015. These patients were treated with conservative surgery under general anesthesia (control group, n = 81) or combined anesthesia with a locoregional block (n = 84). Data were collected on age, tumor type (size, stage, lymph node infiltration), immunohistochemical factors (hormone receptors), procedure (duration, technique), anesthesia (general anesthesia or associated with regional blockade), complications, survival, and recurrence. Results: Statistical analysis demonstrated no significative differences in age, weight, sex, ASA status, and surgical technique and duration. Tumor recurrence was recorded in 6 patients (4 in the general group and 2 in the locoregional group) 1 year after surgery, and 6 (4 in the general group and 2 in the locoregional group) 5 years after. No significant differences between groups in morbi-mortality were found. Conclusions: Following the interfascial analgesic technique, a lower rate of tumor recurrence was observed, but no significant differences. (AU)

Introducción: Históricamente, se han considerado los factores patológicos y de laboratorio para pronosticar el cáncer de mama. La cirugía de resección tumoral constituye el tratamiento principal pero, paradójicamente, la manipulación quirúrgica y la inmunosupresión perioperatoria pueden predisponer a la diseminación del cáncer. Las técnicas anestésicas locorregionales evitarían esta inmunosupresión, mejorando por tanto los resultados oncológicos de la cirugía. El objetivo de este estudio fue evaluar la influencia pronóstica de la anestesia locorregional en la diseminación y recidiva del cáncer de mama tras la cirugía. Métodos: Se realizó un estudio de cohorte retrospectivo de 165 pacientes de cáncer de mama centrolobulillar, programadas para cirugía oncológica de mama no reconstructiva entre 2012 y 2015. Dichas pacientes fueron tratadas con cirugía conservadora bajo anestesia general (grupo control, n = 81) o anestesia combinada con bloqueo locorregional (n = 84). Se recopilaron datos sobre edad, tipo de tumor (tamaño, estado, infiltración ganglionar), factores inmunohistoquímicos (receptores hormonales), procedimiento (duración, técnica), anestesia (anestesia general o anestesia asociada a bloqueo regional), complicaciones, supervivencia y recidiva. Resultados: El análisis estadístico no mostró diferencias significativas en cuando a edad, peso, sexo, estatus ASA, técnica quirúrgica y duración. Se registró la recidiva tumoral en 6 pacientes (4 en el grupo general y 2 en el grupo locorregional) transcurrido un año de la cirugía, y 6 pacientes (4 en el grupo general y 2 en el grupo locorregional) transcurridos cinco años. No se encontraron diferencias significativas entre los grupos en términos de morbi-mortalidad. Conclusiones: Tras la técnica analgésica interfascial, se observó una tasa de recidiva tumoral inferior, aunque sin diferencias significativas. (AU)

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.

Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profile of 37 PMM2-CDG patients, examining its association with parental stress and medical characteristics. Assessment tools included ICARS for the cerebellar syndrome and NPCRS for global disease severity. Behavioral and adaptive evaluation consisted of the Vineland Adaptive Behavior Scale and the Health of the Nation Outcome Scales. Psychopathological screening involved the Child Behavior Checklist and the Symptom Check-List-90-R. Parental stress was evaluated using Parental Stress Index. Results were correlated with clinical features. No significant age or sex differences were found. 'Daily living skills' were notably affected. Patients severely affected exhibited lower adaptive skill values, as did those with lipodystrophy and inverted nipples. Greater severity in motor cerebellar syndrome, behavioral disturbances and the presence of comorbidities such as hyperactivity, autistic features and moderate-to-severe intellectual disability correlated with greater parental stress. Our study found no decline in adaptive abilities. We provide tools to assess adaptive deficits in PMM2-CDG patients, emphasizing the importance of addressing communication, daily living skills, and autonomy, and their impact on parental stress in clinical monitoring and future therapies.