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Introduction: The combination of gene content on the marker chromosome, chromosomal origin, level of mosaicism, origin mechanism (chromothripsis), and uniparental disomy can influence the final characterization of sSMCs. Several chromosomal aberrations, including sSMCs, have been observed in 30%-60% of patients with pigmentary mosaicism, and in more than 80%, chromosomal abnormalities are present in the mosaic state. In patients with pigmentary mosaicism the most representative chromosomes involved in sSMCs are 3, 5, 6, 9, 10, 13, 15, 18, 20, and X. In this study, we included the complete clinical, cytogenetic, and molecular characterization of seven patients with pigmentary mosaicism associated with the presence of SMCs of different chromosomal origins. Methods: The patients were diagnosed by the Genetics and Dermatology Department of three different hospitals. Cytogenetic and FISH analyses were performed on peripheral blood, light skin, and dark skin. FISH analysis was performed using different probes, depending on the marker chromosome description. Different array analysis was performed. Results: To date, of the seven cases studied, the chromosomal origins of six were successfully identified by FISH or array analysis. The chromosomes involved in SMCs were 6, 9, 15, and 18, X. The most frequently found was the centric minute structure. Discussion: To date, this group of seven patients constitutes the largest clinical and cytogenetically finely described study of cases with pigmentary mosaicism associated with sSMCs. Undoubtedly, analysis of the two skin types is a fundamental part of our study, as numerical differences may occur in the cell lines found in each skin type. The knowledge generated in this study will help delineate a very heterogeneous entity more accurately, and in the future, analyzing more patients with PM will likely establish a more definite association with the presence of this genetic alteration. [ABSTRACT FROM AUTHOR]

Uno de los yacimientos prehistóricos más importantes documentados en la Sierra de Jaizkibel es J3. Situado a tan solo 200 m de la costa, en este abrigo se han excavado diferentes niveles arqueológicos datados a comienzos del Holoceno (Mesolítico). En los niveles B, C, D y F se documentaron enormes acumulaciones de conchas, lo que hace que el yacimiento sea considerado como un conchero estratificado. Calculamos que, en el sondeo realizado (ca. 1,5 m2), el número de restos podría alcanzar el medio millón. En este artículo presentamos los primeros datos sobre la explotación de recursos marinos procedentes de J3. Se ha estudiado una muestra del yacimiento. En los cuatro niveles la composición arqueofaunística es similar. Los restos más abundantes son las conchas de gasterópodos (casi exclusivamente lapas, Phorcus lineatus). También hay evidencias de crustáceos (placas de percebes y de balanos), de equinodermos (erizos) y de peces (espáridos). La presencia de estos restos arqueofaunísticos en J3 indica que los grupos humanos marisqueaban diferentes animales marinos en la zona intermareal cercana al yacimiento.

Little is known about the morphological characteristics of pores in soil crusts. The objective was to characterize the two-dimensional (2D) porosity (amount, shape, size, and area of pores) of soil crusts to ascertain their potential as indicators of soil quality for natural crusted soils. The 2D-porosity was described in thin sections and measured by image analysis of polished resin-impregnated soil blocks. Physical soil crust and incipient biological soil crusts appear to be the lowest-quality soils in terms of number of pores (average of 131-133 cm-1) and area occupied by pores or meso-macroporosity (3.5-4.2%). Their most abundant pore types were small unconnected rounded pores. Soil crust infiltration coefficients (65-72% annual) were among the lowest and their high erosion rates (81204 g m-2 yr-1) were not only due to their lower total porosity, but also to their pore shapes and sizes. Biological soil crusts appear on higher-quality soil, where the higher the organic C content, the more evolved the soil crust is (with lichens and cyanobacteria). Such soil crusts have better developed pore-systems with specific meso- and macropore morphologies, for example, large, interconnected elongated and irregular pores. Biological soil crusts (BSCs) dominated by lichens have the largest meso-macroporosity (up to 23.65%) due to the predominance of elongated pores. In many cases, infiltration is low (46-57%) because the biological crusts are somewhat detached from the soil underneath, but the armouring effect decreases erosion rates (7-23 g m-2 yr-1). Soil crust pore numbers, size, and shape were useful indicators of soil quality. [ABSTRACT FROM AUTHOR]

We investigated the presence of intestinal parasites in canine feces collected from public squares in Comodoro Rivadavia, Chubut, Argentina (45°S, 68°W) and determined the persistence of Echinococcus granulosus eggs in those droppings under natural environmental conditions in that region.In the first experiment, we analyzed 163 fecal samples collected from urban squares during 8 months time and found parasitic elements in 46.6%. The presence of parasites was independent of the condition of the feces (fresh or dried; P>0.05). Parasites potentially pathogenic in man were present, such as Toxocara species (spp.), Taenia spp./Echinococcus spp., Uncinarias spp., and Entamoeba spp.In the second experiment, we analyzed two canine fecal samples contaminated with E. granulosus eggs, deposited for 41 months within the natural environment. These parasitic elements persisted during the entire study as attested by light microscopy and the ELISA coproantigen test.We propose the study of the presence of intestinal parasites in canine feces within the environment as a general strategy for identifying and monitoring areas of risk for canine-related zoonoses since we were able to demonstrate the persistence of E. granulosus eggs in deposited canine feces for over 3 years within the area studied. [Copyright &y& Elsevier]

In December 2022, an alert was published in the UK and other European countries reporting an unusual increase in the incidence of Streptococcus pyogenes infections. Our aim was to describe the clinical, microbiological, and molecular characteristics of group A Streptococcus invasive infections (iGAS) in children prospectively recruited in Spain (September 2022-March 2023), and compare invasive strains with strains causing mild infections. One hundred thirty isolates of S. pyogenes causing infection (102 iGAS and 28 mild infections) were included in the microbiological study: emm typing, antimicrobial susceptibility testing, and sequencing for core genome multilocus sequence typing (cgMLST), resistome, and virulome analysis. Clinical data were available from 93 cases and 21 controls. Pneumonia was the most frequent clinical syndrome (41/93; 44.1%), followed by deep tissue abscesses (23/93; 24.7%), and osteoarticular infections (11/93; 11.8%). Forty-six of 93 cases (49.5%) required admission to the pediatric intensive care unit. iGAS isolates mainly belonged to emm 1 and emm 12; emm 12 predominated in 2022 but was surpassed by emm 1 in 2023. Spread of M1 UK sublineage (28/64 M1 isolates) was communicated for the first time in Spain, but it did not replace the still predominant sublineage M1 global (36/64). Furthermore, a difference in emm types compared with the mild cases was observed with predominance of emm 1, but also important representativeness of emm 12 and emm 89 isolates. Pneumonia, the most frequent and severe iGAS diagnosed, was associated with the spe A gene, while the ssa superantigen was associated with milder cases. iGAS isolates were mainly susceptible to antimicrobials. cgMLST showed five major clusters: ST28-ST1357/ emm 1, ST36-ST425/ emm 12, ST242/ emm 12.37, ST39/ emm 4, and ST101-ST1295/ emm 89 isolates., Importance: Group A Streptococcus (GAS) is a common bacterial pathogen in the pediatric population. In the last months of 2022, an unusual increase in GAS infections was detected in various countries. Certain strains were overrepresented, although the cause of this raise is not clear. In Spain, a significant increase in mild and severe cases was also observed; this study evaluates the clinical characteristics and the strains involved in both scenarios. Our study showed that the increase in incidence did not correlate with an increase in resistance or with an emm types shift. However, there seemed to be a rise in severity, partly related to a greater rate of pneumonia cases. These findings suggest a general increase in iGAS that highlights the need for surveillance. The introduction of whole genome sequencing in the diagnosis and surveillance of iGAS may improve the understanding of antibiotic resistance, virulence, and clones, facilitating its control and personalized treatment., Competing Interests: The authors declare no conflict of interest.

The aims are to assess improvements in memory, attention and executive function in first-episode psychosis after Metacognitive Training (MCT). A multicenter randomized clinical trial was performed with two arms: MCT and psychoeducational intervention. A total of 126 patients with a diagnosis of psychosis, less than 5 years from the onset of the disease, were included. Patients were assessed two or three moments (baseline, post-treatment, 6 months follow-up) depending on the test, with a battery of neurocognitive tests (TAVEC, TMTA-B, CPT, WCST, Stroop and premorbid IQ). General linear models for repeated measures were performed.  A better improvement in the MCT was found by an interaction between group and time in CPT Hit index, TMTB, Stroop, recent memory and number of perseverations of the TAVEC. Considering three assessments, a better improvement was found in non-perseverative, perseverative and total errors of the WCST and TMTB. The MCT is an effective psychological intervention to improve several cognitive functions., Competing Interests: Declaration of interest None, (Copyright © 2022 Elsevier B.V. All rights reserved.)

Blue mussels ( Mytilus edulis ) are among the most consumed fishery products globally. Foodborne outbreaks of mussel-associated infections by viral, bacterial, and parasitic pathogens have been reported in the last years. In this study, we investigated the occurrence, genetic diversity, and zoonotic potential of the diarrhea-causing enteric protozoan Giardia duodenalis in blue mussels from Caleta Córdova in Chubut Province, southeast Patagonia, Argentina. A total of 344 free-living blue mussels were collected and distributed in 53 aliquots of pooled mussel tissue (each containing 5‒7 specimens) during the period 2015‒2018. Conventional optical microscopy was used as screening method for the detection of G. duodenalis cysts in pooled, homogenized tissues. Samples with a positive result were assessed by a multilocus sequence genotyping scheme based on the amplification of partial fragments of the glutamate dehydrogenase and β -giardin genes of the parasite. G. duodenalis cysts were found in 30.2% (16/53) of the aliquots of pooled mussel tissue tested. PCR and sequencing analyses revealed the presence of G. duodenalis subassemblage BIV in selected aliquots. To the best of our knowledge, this is the first description of zoonotic subassemblage BIV from blue mussels in Argentina.

Objectives: To report toxicity (primary endpoint) and biochemical disease-free survival (BDFS) outcomes of a phase II trial evaluating ultra-hypofractionated radiation therapy (UHRT), focusing on patients with unfavourable intermediate-risk and high-risk prostate cancer (PCa)., Patients and Methods: From 2012 to 2017, 154 patients (92 with unfavourable intermediate-risk or high-risk PCa) were treated with helical TomoTherapy delivering 43.8-45.2 Gy in eight fractions over 3 weeks. Of these, 73% received hormonotherapy (51% neoadjuvant)., Results: The median (range) follow-up was 48 (19-84) months. For the whole series, crude BDFS and 5-year BDFS rates were 97.4% and 94.3%, respectively. The corresponding figures for unfavourable intermediate-risk and high-risk PCa were 96.7% and 90%, respectively. The crude metastasis-free survival rate was 98% for the unfavourable intermediate-risk and high-risk group. For the whole series, the 5-year cumulative urinary/intestinal grade 2+ late toxicity was 17.8/7.4%. No grade 4-5 toxicity was observed. One patient experienced late grade 3 toxicity (urinary)., Conclusion: This eight-fraction UHRT regimen can be safely delivered to patients with unfavourable intermediate-risk/high-risk PCa. Its relapse rates are similar to those reported for the combination of external beam radiotherapy plus brachytherapy, however, the observed toxicity profile is milder. The disease survival rates compare favourably with historical controls in some other forms of radiotherapy, with similar side effects. Since the low rate of biochemical/metastasis relapse is encouraging, further research to confirm these results is justified., (© 2019 The Authors BJU International published by John Wiley & Sons Ltd on behalf of BJU International.)

Introduction: Background: multiple sclerosis (MS) is an inflammatory, neurodegenerative disease of the central nervous system. Weight loss and malnutrition are prevalent in advanced stages of MS. Objective: the aim of this study was to define the nutritional profile in moderate-advanced MS (especially by documenting malnutrition) and its evolution. Methods: a case-control study was designed; cross-sectional observational study was complemented by a 12-month prospective longitudinal observational study of MS patients. Nutritional status was evaluated by collecting clinical, anthropometric, dietary and analytical data. Results: one hundred and twenty-four patients with MS and 62 controls were recruited; 8% of the patients were malnourished or at risk of malnutrition. Only MS patients with advanced disability needed nutritional support. During the follow-up, five patients died and four of them received nutritional support. Conclusions: malnutrition was unusual in our sample of patients with moderate-advanced MS. The need for nutritional support is related to dysphagia in patients with advanced neurological disability. The nutritional status of patients with moderate-advanced MS is defined by a tendency to overweight and by the decrease in basal energy expenditure and handgrip strength test in relation to the loss of muscle mass. The deficient intake of polyunsaturated fatty acids, fiber and vitamin D is exacerbated in the evolution of the disease.

Objective: To assess the effectiveness and identify predictors of failure of noninvasive ventilation., Design: A retrospective, longitudinal descriptive study was made., Setting: Adult patients with acute respiratory failure., Patients: A total of 410 consecutive patients with noninvasive ventilation treated in an Intensive Care Unit of a tertiary university hospital from 2006 to 2011., Procedures: Noninvasive ventilation., Main Variables of Interest: Demographic variables and clinical and laboratory test parameters at the start and two hours after the start of noninvasive ventilation. Evolution during admission to the Unit and until hospital discharge., Results: The failure rate was 50%, with an overall mortality rate of 33%. A total of 156 patients had hypoxemic respiratory failure, 87 postextubation respiratory failure, 78 exacerbation of chronic obstructive pulmonary disease, 61 hypercapnic respiratory failure without chronic obstructive pulmonary disease, and 28 had acute pulmonary edema. The failure rates were 74%, 54%, 27%, 31% and 21%, respectively. The etiology of respiratory failure, serum bilirubin at the start, APACHEII score, radiological findings, the need for sedation to tolerate noninvasive ventilation, changes in level of consciousness, PaO2/FIO2 ratio, respiratory rate and heart rate from the start and two hours after the start of noninvasive ventilation were independently associated to failure., Conclusions: The effectiveness of noninvasive ventilation varies according to the etiology of respiratory failure. Its use in hypoxemic respiratory failure and postextubation respiratory failure should be assessed individually. Predictors of failure could be useful to prevent delayed intubation., (Copyright © 2015 Elsevier España, S.L.U. and SEMICYUC. All rights reserved.)

Dirofilariasis represents a zoonotic mosaic, which includes two main filarial species (Dirofilaria immitis and D. repens) that have adapted to canine, feline, and human hosts with distinct biological and clinical implications. At the same time, both D. immitis and D. repens are themselves hosts to symbiotic bacteria of the genus Wolbachia, the study of which has resulted in a profound shift in the understanding of filarial biology, the mechanisms of the pathologies that they produce in their hosts, and issues related to dirofilariasis treatment. Moreover, because dirofilariasis is a vector-borne transmitted disease, their distribution and infection rates have undergone significant modifications influenced by global climate change. Despite advances in our knowledge of D. immitis and D. repens and the pathologies that they inflict on different hosts, there are still many unknown aspects of dirofilariasis. This review is focused on human and animal dirofilariasis, including the basic morphology, biology, protein composition, and metabolism of Dirofilaria species; the climate and human behavioral factors that influence distribution dynamics; the disease pathology; the host-parasite relationship; the mechanisms involved in parasite survival; the immune response and pathogenesis; and the clinical management of human and animal infections.

Dirofilaria immitis is the causative agent of canine and feline heartworm disease. The parasite can survive for long periods of time (7 years or more) in the circulatory system of immunocompetent reservoirs, producing usually a chronic inflammatory vascular disease. In addition, the simultaneous death of groups of adult worms can trigger an acute disease characterized by the exacerbation of inflammatory reactions and the emergence of serious thromboembolic events. In the context of the D. immitis/host relationships, the aim of this study was to investigate the interaction between the excretory/secretory antigens from D. immitis adult worms (DiES) and the fibrinolytic system of the host. Using an enzyme-linked immunosorbent assay we showed that DiES extract is able to bind plasminogen and generate plasmin, although this fact requires the presence of the tissue plasminogen activator (t-PA). Moreover, we established that DiES extract enhances t-PA expression in cultured vascular endothelial cells. Additionally, 10 plasminogen-binding proteins from DiES extract were identified by mass spectrometry (HSP60, actin-1/3, actin, actin 4, transglutaminase, GAPDH, Ov87, LOAG_14743, galectin and P22U). The data suggest that DiES antigens interact with the environment of the parasite regulating the activation of the fibrinolytic system of the host with involvement of the vascular endothelium in the process., (Copyright © 2011 Elsevier B.V. All rights reserved.)

The aim of the present study was compare the prevalence of D. immitis in dogs and seroprevalence in humans of Gran Canaria (Canary Islands, Spain) taking into consideration the four isoclimatic areas of the island. A close relationship between the prevalence of Dirofilaria immitis in dogs and the seroprevalence in humans, in each isoclimatic area, was observed. The highest seroprevalence of infection in both canine and human hosts were found in a strip of mid-range altitude with 25.47% and 30.4% in dogs and 25.66% and 29.73% in humans, respectively. The coastal zone and the highest part of the island have prevalences significantly lower. These results demonstrate that the risk of infection by D. immitis in the human population in each area is tied to the prevalence in the canine population. Physicians should be alerted to the possibility of finding cases of human pulmonary dirofilariosis amongst the inhabitants of the island.

Objective: The purpose of this study was to determine if the posterior-anterior cervical gliding test is a valid test as compared with dynamic radiographic assessment in flexion/extension as tool for the manual diagnosis of intervertebral joint hypomobility in the midcervical spine in patients with mechanical neck pain., Methods: The study was done according to Standards for Reporting of Diagnostic Accuracy guidelines. Fifty patients with mechanical neck pain participated. An examiner performed a posterior-anterior cervical spine gliding to determine the presence of joint hypomobility over the C3-C4, C4-C5, and C5-C6 levels. Two dynamic radiographs in flexion/extension of the neck were obtained from each patient. The angle resulting from the intersection of 2 lines traced between 2 consecutive vertebrae was considered the degree of intersegmental motion of flexion-extension between those vertebrae. Intersegmental motion showing radiographic data below mean - SD from normative data was considered to reflect hypomobility. Differences between hypomobile and not hypomobile segments were assessed with the 2-tailed unpaired Student t test. Sensitivity, specificity, positive predictive value, and negative predictive value were also obtained., Results: At all cervical segments, those patients diagnosed with hypomobility showed significantly (P < .001) lower radiographic motion (C3-C4: 12.4 degrees +/- 2.7 degrees, C4-C5: 14.5 degrees +/- 2.6 degrees, C5-C6: 15.0 degrees +/- 4.8 degrees) compared with those patients not diagnosed with hypomobility (C3-C4: 17.6 degrees +/- 3.8 degrees, C4-C5: 19.4 degrees +/- 3.4 degrees, C5-C6: 21.0 degrees +/- 3.8 degrees). The C3-C4 and C4-C5 levels had high sensitivity (>80%) and specificity (>70%), whereas C5-C6 showed high sensitivity (100%) but low specificity (41%)., Conclusions: The posterior-anterior cervical gliding test was as good as dynamic radiographic assessment for the diagnosis of intervertebral hypomobility in the midcervical spine in this group of subjects.

The objectives of the present work were to screen topsoil samples collected from public squares in two cities within the Argentine Patagonia for the presence of infective forms of intestinal parasites and to examine the possible relationship between positive findings and the environmental, socioeconomic, and cultural conditions of that region. For this purpose we studied 13 public squares, their 13 custodians, and 44 family groups within their respective surrounding areas. Of the 226 topsoil samples analyzed, 44.3% proved positive for infective forms of intestinal parasites, with 17.3% of these containing more than one species. The frequency of appearance of positive samples was dependent on the season of the year (p < 0.001), while presence of the parasites was related to the soil pH (p < 0.05) but independent of the soil relative humidity (p > 0.05). Some of the organisms detected are associated with zoonoses. We observed the presence of Capillaria spp. and Spirocerca spp. under cool desert climatic conditions. Within the group of custodians we detected hematologic alterations one positive serology for toxoplasmosis and documented behavior conducive to risk of infection with the parasites found in those squares. Within the family group an acquaintance with parasitic zoonoses and their prevention was an inconsistent finding, with toxocarosis and toxoplasmosis being the diseases associated with the greatest degree of ignorance. Furthermore, we consider the failure to de-parasitize pets and the practice of feeding them with raw meat, as typically found in our family survey, to be factors contributing to a greater likelihood of public square contamination. From the results obtained here, we propose a spatial organization approach for the purpose of detecting zones at risk of contracting zoonotic parasitoses within urban environments.