Complementary description of Peltidiumnayarit (Copepoda, Harpaticoida, Peltidiidae) and a new record at Revillagigedo Archipelago, Mexico.

Four adult females of a rare benthic/epiphytic harpacticoid copepod species of the genus Peltidium Philippi, 1839 were collected from insular zooplankton samples obtained at Revillagigedo National Park, Mexico. They were identified as Peltidiumnayarit Suárez-Morales & Jarquín-González, 2013 with type location (and the single previously known distribution site) at Playa Careyeros (20°46'59.46"N, 105°30'35.48"W), Nayarit, Mexico. We provide a complementary description of this species including new details of antennules, caudal rami, legs 1 and 5, and cuticular ornamentation using scanning electron microscopy observations. Peltidiumnayarit has a dark reddish-pink coloration allegedly mimicking the color of the macroalgae where they live, but specimens collected in the present study were obtained from sea surface zooplankton net tows. The record of Peltidiumnayarit in the Revillagigedo Islands represents the southwestern-most record of the genus in the Americas and the second record for Mexico.

Minimally Invasive Quadricepsplasty Using the Adolphson-Cerqueira Technique: A Retrospective Study after 1-Year of Follow-up.

Aim: Knee stiffness limits activities of daily living with treatment having no gold standard technique currently. We present follow-up data 1-year after quadricepsplasty using the Adolphson-Cerqueira technique for the treatment of knee stiffness in a Brazilian population sample. Materials and methods: This retrospective study included patients who underwent a quadricepsplasty using the Adolphson-Cerqueira technique between January 2006 and March 2023 at our institution. The inclusion criteria were: (1) Knee stiffness with a range of motion <70°; (2) Patellar excursion ≥2 mm on physical examination; (3) Available knee radiography in the anteroposterior and lateral views; and (4) A follow-up at 1 year postoperatively. The Judet Classification was used to assess the outcome of the quadricepsplasty. Results: Sixty-seven patients were included. The results were 6% poor, 31.3% fair, 44.8% good, and 17.9% excellent according to the Judet Classification. A correlation was observed between age and the gain in range of motion at the 1-year postoperative follow-up, and between the gain in range of motion intraoperatively and that at the 1-year follow-up. There were five cases of complications (7.46%): one of patellar fracture, three of quadriceps tendon rupture, and one of avulsion fracture in the superior pole of the patella. Conclusion: Quadricepsplasty using the Adolphson-Cerqueira technique produced satisfactory results overall for improving knee joint stiffness and had a complication rate comparable with other currently used techniques. Clinical significance: Loss of knee range of motion remains a difficult problem without there being a clear gold standard in treatment. Many different options are described in the literature. We provide a further option with follow-up results. How to cite this article: Cerqueira FS, Silva L, Kropf LL, et al. Minimally Invasive Quadricepsplasty Using the Adolphson-Cerqueira Technique: A Retrospective Study after 1-Year of Follow-up. Strategies Trauma Limb Reconstr 2024;19(2):87-93.

Subterranean fauna associated with mesovoid shallow substratum in canga formations from southeastern Brazil: invertebrate biodiversity of a highly threatened ecosystem.

Iron Formations (IF) are threatened by mining, particularly the Mesovoid Shallow Substratum (MSS), an understudied subterranean environment. We evaluate the spatiotemporal patterns of subterranean fauna in MSS of iron duricrust (canga) in the Iron Quadrangle and Southern Espinhaço Range, southeastern Brazil. Samplings took place between July 2014 and June 2022 using five trap types. We sampled 108,005 individuals, 1,054 morphospecies, and seven phyla, globally the largest dataset on MSS in IF. Arthropoda represented 97% of all invertebrates sampled. We identified 31 troglomorphic organisms, primarily Arthropoda and Platyhelminthes. MSS traps were the most efficient method, capturing 80% of all invertebrates. Morphospecies were more prevalent in each locality than shared among localities. Species replacement was the main processes to spatial differences. Over time, we found a decrease of total dissimilarity and importance of species replacement for troglomorphic organisms. A positive correlation between spatial distance and compositional dissimilarity of invertebrates was found. Iron Quadrangle and Southern Espinhaço Range showed marked differences in the spatiotemporal patterns of subterranean fauna. Brazilian IF are threatened, with their biological significance not fully understood but highly endangered due their limited distribution. Conservation efforts require a comprehensive understanding of both biotic and abiotic factors shaping the entire IF ecosystem.

Mitochondrial DNA patterns describe the evolutionary history of the bonnethead shark Sphyrna tiburo (Linneus 1758) complex in the western Atlantic Ocean.

The apparent lack of physical barriers in the marine realm has created the conception that many groups have a constant gene flow. However, changes in ocean circulation patterns, glacial cycles, temperature, and salinity gradients are responsible for vicariant events in many fish species, including sharks. The bonnethead shark, Sphyrna tiburo, is an endangered small coastal shark species. Although considerable efforts have recently been undertaken, little remains known about the possible biogeographic scenario that can explain its actual distribution within the western Atlantic (WA). Here, we used 599 mitochondrial sequences to assess the phylogeographic structure and implement Bayesian phylogenetic analyses to obtain divergence times and reconstruct the ancestral geographic range. This allowed us to infer processes responsible for the diversification of S. tiburo into major divergent lineages. Our results indicated that S. tiburo in the WA represents three independent lineages, with Brazilian samples differentiated into a distinct genetic cluster. The posterior probability of ancestral range analysis indicated that the species likely originated in the northern region (Carolina Province and the southern Gulf of Mexico), where it colonized southward through the uplifting of the Central American Isthmus (CAI). The Northern and Caribbean genetic clusters appear to have arisen from the intensification of the Loop Current, which currently flows northward passing the Yucatan Peninsula, Gulf of Mexico, and east Florida. Following initial colonization, the Northeastern Brazil group differentiated from the Caribbean region due to the sediment and freshwater discharge of the Amazon-Orinoco Plume. Thus, the evolutionary history of the S. tiburo complex can be explained by a combination of dispersal and vicariance events that occurred over the last ~5 million years (MY). We established and confirmed the species and population limits, demonstrating that the Amazon-Orinoco Plume constitutes a significant dispersal barrier for coastal sharks. Finally, we discuss some recommendations for the conservation of the bonnethead shark.

Genomics and evolutionary analysis of Chlorella variabilis-infecting viruses demarcate criteria for defining species of giant viruses.

Chloroviruses exhibit a close relationship with their hosts with the phenotypic aspect of their ability to form lytic plaques having primarily guided the taxonomy. However, with the isolation of viruses that are only able to complete their replication cycle in one strain of Chlorella variabilis, systematic challenges emerged. In this study, we described the genomic features of 53 new chlorovirus isolates and used them to elucidate part of the evolutionary history and taxonomy of this clade. Our analysis revealed new chloroviruses with the largest genomes to date (>400 kbp) and indicated that four genomic features are statistically different in the viruses that only infect the Syngen 2-3 strain of C. variabilis (OSy viruses). We found large regions of dissimilarity in the genomes of viruses PBCV-1 and OSy-NE5 when compared with the other genomes. These regions contained genes related to the interaction with the host cell machinery and viral capsid proteins, which provided insights into the evolution of the replicative and structural modules in these giant viruses. Phylogenetic analysis using hallmark genes of Nucleocytoviricota revealed that OSy-viruses evolved from the NC64A-viruses, possibly emerging as a result of the strict relationship with their hosts. Merging phylogenetics and nucleotide identity analyses, we propose strategies to demarcate viral species, resulting in seven new species of chloroviruses. Collectively, our results show how genomic data can be used as lines of evidence to demarcate viral species. Using the chloroviruses as a case study, we expect that similar initiatives will emerge using the basis exhibited here.IMPORTANCEChloroviruses are a group of giant viruses with long dsDNA genomes that infect different species of Chlorella-like green algae. They are host-specific, and some isolates can only replicate within a single strain of Chlorella variabilis. The genomics of these viruses is still poorly explored, and the characterization of new isolates provides important data on their genetic diversity and evolution. In this work, we describe 53 new chlorovirus genomes, including many isolated from alkaline lakes for the first time. Through comparative genomics and molecular phylogeny, we provide evidence of genomic gigantism in chloroviruses and show that a subset of viruses became highly specific for their hosts at a particular point in evolutionary history. We propose criteria to demarcate species of chloroviruses, paving the way for an update in the taxonomy of other groups of viruses. This study is a new and important piece in the complex puzzle of giant algal viruses.

Chemical short-range order increases the phonon heat conductivity in a refractory high-entropy alloy.

We study the effects of the chemical short-range order (SRO) on the thermal conductivity of the refractory high-entropy alloy HfNbTaTiZr using atomistic simulation. Samples with different degrees of chemical SRO are prepared by a Monte Carlo scheme. With increasing SRO, a tendency of forming HfTi and TiZr clusters is found. The phonon density of states is determined from the velocity auto-correlation function and chemical SRO modifies the high-frequency part of the phonon density of states. Lattice heat conductivity is calculated by non-equilibrium molecular dynamics simulations. The heat conductivity of the random alloy is lower than that of the segregated binary alloys. Phonon scattering by SRO precipitates might be expected to reduce scattering times and, therefore, decrease thermal conductivity. We find that, in contrast, due to the increase of the conductivity alongside SRO cluster percolation pathways, SRO increases the lattice heat conductivity by around 12 %. This is expected to be a general result, extending to other HEAs.

Taxonomic diversity of amphibians (Amphibia, Anura) and reptiles (Reptilia, Testudines, Squamata) in a heterogeneous landscape in west-central Mexico: a checklist and notes on geographical distributions.

In Mexico, land use changes have significantly impacted the diversity of amphibians and reptiles in a negative way. In light of this, we evaluate the alpha and beta components of the taxonomic diversity of amphibians and reptiles in a heterogeneous landscape in west-central Mexico. Additionally, we provide a checklist of amphibian and reptile species recorded over nine years of observations within the studied landscape and surrounding areas. The land cover/use types with the highest species richness and alpha taxonomic diversity differed between amphibians and reptiles. Overall beta taxonomic diversity was high for both groups, but slightly higher in reptiles. This taxonomic differentiation mainly corresponded to a difference in the turnover component and was greater in pristine habitats compared to disturbed ones. The checklist records 20 species of amphibians (ten of which are endemic) and 48 of reptiles (30 endemics). Additionally, the study expands the known geographical distribution range of one species of frog and three species of snakes. Our findings suggest that heterogeneous landscapes with diverse land cover/use types can provide essential habitats for the conservation of amphibian and reptile species.

Temporary Target Versus Suspended Insulin Infusion in Patients with Type 1 Diabetes Using the MiniMed 780G Advanced Closed-Loop Hybrid System During Aerobic Exercise: A Randomized Crossover Clinical Trial.

Aim: To compare the safety in terms of hypoglycemic events and continuous glucose monitoring (CGM) metrics during aerobic exercise (AE) of using temporary target (TT) versus suspension of insulin infusion (SII) in adults with type 1 diabetes (T1D) using advanced hybrid closed-loop systems. Methods: This was a randomized crossover clinical trial. Two moderate-intensity AE sessions were performed, one with TT and one with SII. Hypoglycemic events and CGM metrics were analyzed during the immediate (baseline to 59 min), early (60 min to 6 h), and late (6 to 36 h) post-exercise phases. Results: In total, 33 patients were analyzed (44.6 ± 13.8 years), basal time in range (%TIR 70-180 mg/dL) was 79.4 ± 12%, and time below range (%TBR) <70 mg/dL was 1.8 ± 1.7% and %TBR <54 mg/dL was 0.5 ± 0.9%. No difference was found in the number of hypoglycemic events, %TBR <70 mg/dL and %TBR <54 mg/dL between TT and SII. Differences were found in the early phase, with better values when using TT for %TIR 70-180 mg/dL (83.0 vs. 65.3, P = 0.005), time in tight range (%TITR 70-140 mg/dL) (56.3 vs. 41.5, P = 0.04), and time above range (%TAR >180 mg/dL) (15.3 vs. 31.8, P = 0.01). In the diurnal period, again %TIR was better for TT use (82.1 vs. 73.1, P = 0.02) and %TAR (15.0 vs. 22.96, P = 0.04). No significant differences were found in the CGM metrics during the different phases of AE. Conclusion: Our data appear to show that the use of TT compared with SII is equally safe in all phases of AE. However, the use of TT allows for a better glycemic profile in the early phase of exercise.

Auditory changes in awake guinea pigs exposed to overcompressed music.

Exposure to loud sound during leisure time is identified as a significant risk factor for hearing by health authorities worldwide. The current standard that defines unsafe exposure rests on the equal-energy hypothesis, according to which the maximum recommended exposure is a tradeoff between level and daily exposure duration, a satisfactory recipe except for strongly non-Gaussian intense sounds such as gunshots. Nowadays, sound broadcast by music and videoconference streaming services makes extensive use of numerical dynamic range compression. By filling in millisecond-long valleys in the signal to prevent competing noise from masking, it pulls sound-level statistics away from a Gaussian distribution, the framework where the equal-energy hypothesis emerged. Auditory effects of a single 4 hour exposure to the same music were compared in two samples of guinea pigs exposed either to its original or overcompressed version played at the same average level of 102 dBA allowed by French regulations. Apart from a temporary shift of otoacoustic emissions at the lowest two frequencies 2 and 3 kHz, music exposure had no detectable cochlear effect, as monitored at 1, 2 and 7 days post-exposure. Conversely, middle-ear muscle strength behaved differentially as the group exposed to original music had fully recovered one day after exposure whereas the group exposed to overcompressed music remained stuck to about 50% of baseline even after 7 days. Subsamples were then re-exposed to the same music as the first time and sacrificed for density measurements of inner-hair-cell synapses. No difference in synaptic density was found compared to unexposed controls with either type of music. The present results show that the same music piece, harmless when played in its original version, induces a protracted deficit of one auditory neural pathway when overcompressed at the same level. The induced disorder does not seem to involve inner-hair cell synapses.

Direct Determination of POSS Cage Structure in a Self-Assembled Ionic Bridged Silsesquioxane by Using the Total Pair Distribution Function G(r) and Density Functional Theory.

In the present study, both short-range and long-range structural features of an ionic bridged silsesquioxane, specifically one containing the 1,4-diazoniabicyclo[2.2.2]octane chloride group (ISSQ), were elucidated. This ionic silsesquioxane was synthesized via direct polycondensation of a bridged organosilane precursor, without any additional functionalization step. Si-O-Si cage structures typical of Polyhedral Oligomeric Silsesquioxanes (POSS) were identified. The average interatomic distances of the POSS cages, including the open T8 cage and the T12 cage for the ISSQ, as well as the T8 cage for a commercially available pendant POSS were determined. It is the first report of the interatomic distance determination of POSS cage; achieved by using total pair distribution function G(r) values obtained through high-resolution synchrotron X-ray diffraction combined with density functional theory (DFT) calculations. The application of DFT was crucial for accurately assigning X-ray peaks and verifying structural details. Furthermore, the analysis of X-ray diffraction peaks and the examination of crystalline domains via transmission electron microscopy enabled the proposal of a hexagonal arrangement of Si-O-Si cages over long ranges within the ionic bridged silsesquioxane. This proposed arrangement highlights a distinctive structural organization that could impact the material's properties and applications.

Goniometry and fleximetry measurements to assess cervical range of motion in individuals with chronic neck pain: a validity and reliability study.

PURPOSE: To assess the test-retest and inter-rater reliability of goniometry and fleximetry in measuring cervical range of motion in individuals with chronic neck pain. METHODS: A reliability study. Thirty individuals with chronic neck pain were selected. Cervical range of motion was measured by goniometry and fleximetry at two time points 7 days apart. To characterize the sample, we used the numerical pain rating scale, Pain-Related Catastrophizing Thoughts Scale, and Neck Disability Index. Intraclass correlation coefficient (ICC), standard error of measurement (SEM) and minimum detectable change (MDC) were calculated. Correlations between goniometry and fleximetry measurements were performed using Spearman's correlation coefficient (rho). RESULTS: For goniometry, we found excellent test-retest reliability (ICC ≥ 0.986, SEM ≤ 1.89%, MDC ≤ 5.23%) and inter-rater reliability (ICC ≥ 0.947, SEM ≤ 3.91%, MDC ≤ 10.84%). Similarly, we found excellent test-retest reliability (ICC ≥ 0.969, SEM ≤ 2.71%, MDC ≤ 7.52%) and inter-rater reliability (ICC ≥ 0.981, SEM ≤ 1.88%, MDC ≤ 5.20%) for fleximetry. Finally, we observed a strong correlation between the goniometry and the fleximetry for all cervical movements (rho ≥ 0.993). CONCLUSION: Goniometry and fleximetry measurements are reliable for assessing cervical range of motion in individuals with chronic neck pain.

Quantitative analysis of the effect of the magnetic field generated by a PET/MR scanner on positron range.

OBJECTIVE: Image quality in positron emission tomography (PET) is influenced by positron range. In this work, the effect of the magnetic field of a PET/MR Siemens Biograph mMR 3T on the quality of PET images was studied. APPROACH: Experimental measurements were conducted using18F and68Ga-filled phantoms to quantify image uniformity, recovery coefficients (RCs), spill-over ratios and percent contrast for spherical lesions. Tissue-equivalent phantoms (lung inhale and exhale, adipose, water, trabecular and cortical bone) were used together with a line source to quantify the impact of the magnetic field on the reconstructed PET images. A comparative analysis was made with images obtained with a PET/CT Biograph Vision 600, using the same radionuclides and phantoms. MAIN RESULTS: Higher RCs values were obtained when the image quality phantom was filled with68Ga and scanned with the PET/MR system compared to those obtained with the PET/CT scanner. Hot spheres in the lesion detectability phantom, appear contracted in the transverse direction in the PET/MR system, an effect more evident for68Ga compared to18F, but no elongation in the direction parallel to the magnetic field was observed. In the PET/CT scanner, radial profiles taken from axial slices of line sources, show longer distribution tails extending beyond 20 mm when filled with68Ga and placed inside lung-inhale tissue. In the PET/MR scanner the radial profiles of all materials collapsed into a single distribution with tails extending no more than 10 mm in the direction perpendicular to the magnetic field. SIGNIFICANCE: Positron range depends on positron energy and material density in which they traverse. The results show an evident improvement in image quality in the transaxial direction only, particularly in phantoms filled with68Ga when using a PET/MR system as opposed to images acquired in the PET/CT system due to the presence of the magnetic field.

CT-based comprehensive scoring system for assessing hip arthropathy in ankylosing spondylitis: feasibility study with clinical correlation.

OBJECTIVE: To develop a CT-based scoring system for assessment of hip arthropathy in AS. METHODS: All AS patients were prospectively recruited, consented, and underwent whole-body stereoradiographs and pelvis CT, which were assessed by two independent radiologists. Stereoradiographs were assessed according to Kellgreen-Lawrence and BASRI-h. For the Hip arthropathy CT score in AS (HACTSAS), joints were divided into 7 segments and scored for joint space, osteophytes, subchondral cysts/erosions. Patients were clinically assessed for range of motion (ROM), pain, and clinical scores (BASMI, BASFI, ASQol, BASDAI and ASDAS). Radiological scores correlations with clinical parameters were compared. ROM sensitivity and specificity for hip arthropathy (BASRI-h ≥ 2) were calculated. RESULTS: Sample included 112 patients, with 36/112 females and 76/112 males. Average age was 51.0 ± 11.2 years and mean duration of AS was 20.9 ± 9.6 years. ICC for HACTSAS, Kellgreen-Lawrence and BASRI-h were 0.89, 0.89 and 0.82 respectively. HACTSAS showed moderate absolute correlation with ROM (ρ=-0.41) and BASMI (ρ = 0.45), and weak with pain (ρ = 0.18) and BASFI (ρ = 0.25). BASRI-h and Kellgreen-Lawrence exhibited moderate correlation with ROM (ρ=-0.44 and ρ=-0.40, respectively), weak with pain (ρ=-.27and ρ=-0.23, respectively) and BASFI (ρ=-0.16 and ρ=-0.18, respectively), but only weak with BASMI (ρ=-0.34 and ρ=-0.36, respectively). Internal rotation <15°, abduction <31°, and intermalleolar distance <75cm were, respectively, 73%, 70% and 73% sensitivity and 81%, 65% and 68% specific for hip arthropathy. CONCLUSION: HACTSAS exhibited higher correlation with BASMI and BASFI when compared with BASRI-h, but less correlation with pain and ROM. Internal rotation was the best clinical discriminator for hip arthropathy.

Habitat and food preferences of European rabbits in core and edge populations along the invasion front Patagonia-Monte, Argentina.

The European rabbit Oryctolagus cuniculus is an exotic herbivorous mammal undergoing an active phase of geographical expansion in the arid ecosystems of Argentina. The Adaptive Flexibility Hypothesis states that populations at the range edge (new populations) will exhibit greater flexibility in the use of resources compared with populations located in the range core (older populations). The objective of this work was to compare the rabbit's use of spatial and trophic resources in relation to the establishment time of their populations. The sampling was carried out for 2 years (2017 and 2018) in sites with different establishment times for rabbit populations. Random sampling stratified by type of habitat was applied using 115 fixed strip transects of 1,000 m2 laid out across the study areas. Fresh rabbit signs were recorded in each transect, and environmental and anthropic variables were measured. Our results show that the individuals from the range edge are more selective in the use of habitat than those from the range core. At the microhabitat level, we observed a pattern in the particular components of habitat use by rabbits mainly linked to food availability and proximity to water. From a trophic perspective, rabbits could show flexible adjustment to novel conditions and environments in the range edge. The variability in resource use by the European rabbit confirms its ecological flexibility, pivotal for their advance toward new environments in Argentina.

Cordyceps cateniannulata: An endophyte of coffee, a parasite of coffee leaf rust and a pathogen of coffee pests.

Here, we report on a Cordyceps species entering into a multi-trophic, multi-kingdom association. Cordyceps cateniannulata, isolated from the stem of wild Coffea arabica in Ethiopia, is shown to function as an endophyte, a mycoparasite and an entomopathogen. A detailed polyphasic taxonomic study, including a multilocus phylogenetic analysis, confirmed its identity. An emended description of C. cateniannulata is provided herein. Previously, this species was known as a pathogen of various insect hosts in both the Old and New World. The endophytic status of C. cateniannulata was confirmed by re-isolating it from inoculated coffee plants. Inoculation studies have further shown that C. cateniannulata is a mycoparasite of Hemileia vastatrix, as well as an entomopathogen of major coffee pests; infecting and killing Hypothenemus hampei and Leucoptera coffeella. This is the first record of C. cateniannulata from Africa, as well as an endophyte and a mycoparasite. The implications for its use as a biocontrol agent are discussed.

Limited drought tolerance in the neotropical seasonally dry forest plants impairs future species richness.

Neotropical seasonal dry forest (NSDF) is one of the most threatened ecosystems according to global climate change predictions. Nonetheless, few studies have evaluated the global climate change impacts on diversity patterns of NSDF plants. The lack of whole biome-scale approaches restricts our understanding of global climate change consequences in the high beta-diverse NSDF. We analysed the impact of global climate change on species distribution ranges, species richness, and assemblage composition (beta diversity) for 1,178 NSDF species. We used five representative plant families (in terms of abundance, dominance, and endemism) within the NSDF: Cactaceae, Capparaceae, Fabaceae, Malvaceae, and Zygophyllaceae. We reconstructed potential species distributions in the present and future (2040-2080), considering an intermediate Shared Socioeconomic Pathway and two dispersal ability assumptions on the taxa. Using a resource use scores index, we related climate-induced range contractions with species' water stress tolerance. Even under a favourable dispersal scenario, species distribution and richness showed future significant declines across those sites where mean temperature and precipitation seasonality are expected to increase. Further, changes in species range distribution in the future correlated positively with potential use of resources in Fabaceae. Results suggest that biotic heterogenization will likely be the short-term outcome at biome scale under dispersal limitations. Nonetheless, by 2080, the prevailing effect under both dispersal assumptions will be homogenization, even within floristic nuclei. This information is critical for further defining new areas worth protecting and future planning of mitigation actions for both species and the whole biome.

Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?

Introduction: Lynch syndrome (LS) is an inherited cancer predisposition syndrome characterized by a high risk of colorectal and extracolonic tumors. Germline pathogenic variants (GPV) in the PMS2 gene are associated with <15% of all cases. The PMS2CL pseudogene presents high homology with PMS2, challenging molecular diagnosis by next-generation sequencing (NGS). Due to the high methodological complexity required to distinguish variants between PMS2 and PMS2CL, most laboratories do not clearly report the origin of this molecular finding. Objective: The aim of this study was to confirm the GPVs detected by NGS in regions of high homology segments of the PMS2 gene in a Brazilian sample. Methods: An orthogonal and gold standard long-range PCR (LR-PCR) methodology to separate variants detected in the PMS2 gene from those detected in the pseudogene. Results: A total of 74 samples with a PMS2 GPV detected by NGS in exons with high homology with PMS2CL pseudogene were evaluated. The most common was NM_000535.6:c.2182_2184delinsG, which was previously described as deleterious mutation in a study of African-American patients with LS and has been widely reported by laboratories as a pathogenic variant associated with the LS phenotype. Of all GPVs identified, only 6.8% were confirmed by LR-PCR. Conversely, more than 90% of GPV were not confirmed after LR-PCR, and the diagnosis of LS was ruled out by molecular mechanisms associated with PMS2. Conclusion: In conclusion, the use of LR-PCR was demonstrated to be a reliable approach for accurate molecular analysis of PMS2 variants in segments with high homology with PMS2CL. We highlight that our laboratory is a pioneer in routine diagnostic complementation of the PMS2 gene in Brazil, directly contributing to a more assertive molecular diagnosis and adequate genetic counseling for these patients and their families.

Pushing the boundaries: actual and potential distribution of thrushes expanding their ranges in South America.

The distribution of a species reflects its ecological adaptability and evolutionary history, which is shaped by the environment and represents a dynamic area subject to anthropogenic environmental change. We used the MaxEnt algorithm to construct ecological niche models for four thrush species within the Turdus genus; T. amaurochalinus, T. chiguanco, T. falcklandii and T. rufiventris. These models were used to predict the potential geographic distributions of these species that are expanding their ranges in South America. Using occurrence records, we estimated currently occupied areas for each species. We also identified suitable habitats and projected possible areas to be colonized by the four species at continental scale. Temperature annual range had the highest influence for T. falcklandii, while human modification was the main variable explaining the distribution of the other three species. The potential distribution area ranged from 2.5 million km2 for T. falcklandii to nearly seven million km2 for T. amaurochalinus. Large proportions of suitable area remain unoccupied by all four species, being 50% for T. amaurochalinus and T. rufiventris, and about 70% for T. chiguanco and T. falcklandii. Anthropogenic disturbances, such as habitat loss and ecosystem transformation, lead to non-random species extinction and biotic homogenization, highlighting the importance of predictive models as valuable tools for informing mitigation policies and conservation strategies. Thrushes are progressively expanding their ranges, and the colonization of new habitats could bring new challenges.

Non-indigenous species and their realized niche in tidepools along the South-East Pacific coast.

Non-indigenous species (NIS) have the potential to colonize and become established in a wide range of coastal habitats. Species with broad environmental tolerances can quickly adapt to local conditions and expand their niches along environmental gradients, and even colonize habitats with extreme abiotic conditions. Here we report and document the distribution of eight marine NIS (four seaweed and four invertebrate species) found in tidepools along a 3000 km latitudinal gradient along the Pacific coast of Chile (18.4°S to 41.9°S). The seaweed NIS Codium fragile, Capreolia implexa, Schottera nicaeensis and Mastocarpus latissimus were mostly distributed towards high latitudes (i.e., more southerly locations), where temperatures in tidepools were low. The invertebrate NIS Anemonia alicemartinae, Ciona robusta, Bugula neritina and Bugulina flabellata were more common towards low latitudes, where high temperatures were registered in the tidepools. Across the intertidal gradient, seaweed NIS were mostly found in pools in the mid and low intertidal zone, while invertebrate NIS occurred mostly in pools from the mid and upper intertidal zones. The realized niche spaces of NIS (based on the Outlying Mean Index, OMI) in the study area were mainly influenced by environmental conditions of temperature and salinity (along the latitudinal and intertidal gradients), while other tidepool characteristics (depth, surface area, exposition, and complexity) only had minor effects. Five of the eight NIS exhibited a realized niche space coinciding with the average tidepool environmental conditions, while marginal niches were occupied by species with affinities for specific temperatures and salinities along the latitudinal and intertidal gradients. Our results indicate that physiological tolerances to environmental factors play a fundamental role in the distribution of seaweed and invertebrate NIS in tidepools along the Chilean coast. This study confirms that tidepools offer suitable conditions for some seaweed and invertebrate NIS, potentially facilitating their invasion into new natural habitats.

Comparative analysis of molecular dynamics and method of moments in two-dimensional concentric circular layers.

In this manuscript, we undertake an examination of a classical plasma deployed on two finite co-planar surfaces: a circular regionΩininto an annular regionΩoutwith a gap in between. It is studied both from the point of view of statistical mechanics and the electrostatics of continua media. We employ a dual perspective: the first one is by using molecular dynamics (MD) simulations to find the system's positional correlation functions and velocity distributions. That by modeling the system as a classical two-dimensional Coulomb plasma of point-like charged particlesq1andq2on the layersΩinandΩoutrespectively with no background density. The second one corresponds to a finite Surface Electrode (SE) composed of planar metallic layers displayed on the regionsΩin,Ωoutat constant voltagesVin,Voutconsidering axial symmetry. The surface charge density is calculated by the Method of Moments (MoM) under the electrostatic approximation. Point-like and differential charges elements interact via a1/r-electric potential in both cases. The thermodynamic averages of the number density, and electric potential due to the plasma depend on the coupling and the charge ratioξ=q1/q2once the geometry of the layers is fixed. On the other hand, the fields due to the SE depend on the layer's geometry and their voltage. In the document, is defined a protocol to properly compare the systems. We show that there are values of the coupling parameter, where the thermodynamic averages computed via MD agree with the results of MoM for attractiveξ=-1and repulsive layersξ = 1.