River flow intermittence influence biodiversity-stability relationships across spatial scales: Implications for an uncertain future.

Climate change is increasing the proportion of river networks experiencing flow intermittence, which in turn reduces local diversity (i.e., α-diversity) but enhances variation in species composition among sites (i.e., ß-diversity), with potential consequences on ecosystem stability. Indeed, the multiscale theory of stability proposes that regional stability can be attained not only by local processes but also by spatial asynchrony among sites. However, it is still unknown whether and how scale-dependent changes in biodiversity associated with river flow intermittence influence stability across spatial scales. To elucidate this, we here focus on multiple metacommunities of French rivers experiencing contrasting levels of flow intermittence. We clearly show that the relative contribution of spatial asynchrony to regional stability was higher for metacommunities of intermittent than perennial rivers. Surprisingly, spatial asynchrony was mainly linked to asynchronous population dynamics among sites, but not to ß-diversity. This finding was robust for both truly aquatic macroinvertebrates and for taxa that disperse aerially during their adult stages, implying the need to conserve multiple sites across the landscape to attain regional stability in intermittent rivers. By contrast, metacommunities of truly aquatic macroinvertebrates inhabiting perennial rivers were mainly stabilized by local processes. Our study provides novel evidence that metacommunities of perennial and intermittent rivers are stabilized by contrasting processes operating at different spatial scales. We demonstrate that flow intermittence enhances spatial asynchrony among sites, thus resulting in a regional stabilizing effect on intermittent river networks. Considering that climate change is increasing the proportion of intermittent rivers worldwide, our results suggest that managers need to focus on the spatial dynamics of metacommunities more than on local-scale processes to monitor, restore, and conserve freshwater biodiversity.

Familial fleck corneal dystrophy caused by complete deletion of the PIKFYVE gene.

BACKGROUND: Fleck corneal dystrophy (FCD) is a rare autosomal dominant disease that affects exclusively the corneal stroma. The disease is caused by heterozygous variants in PIKFYVE, a gene encoding a lipid kinase involved in multiple cellular pathways, primarily participating in membrane dynamics and signaling. This report describes a familial case of FCD caused by a complete deletion of the PIKFYVE gene. MATERIAL AND METHODS: A clinical ophthalmic examination was performed on the proband and family members. Genetic testing included next-generation sequencing (multigene panel), and chromosomal microarray analysis. A quantitative PCR assay was designed in order to segregate the deletion. RESULTS: A 19-year-old male, with no family or personal history of ocular disease, presented for evaluation due to an acute illness consisting of burning, foreign body sensation, and red eye. Slit lamp biomicroscopy revealed bilateral small pterygia and scattered bilateral white opacities in the corneal stroma, a very similar corneal phenotype was found in the 47-year-old father, who was asymptomatic. NGS detected a heterozygous deletion of the entire PIKFYVE coding sequence. CMA in DNA from the propositus indicated a 543 kb deletion in 2q33.3q34 spanning the entire PIKFYVE gene. The deletion was confirmed in the father. CONCLUSIONS: We add to the molecular spectrum of FCD by describing a familial case of a whole PIKFYVE gene deletion in affected subjects. Our findings support that normal expression of PIKFYVE is necessary for corneal keratocytes homeostasis and normal corneal appearance. We conclude that PIKFYVE haploinsufficiency is the molecular mechanism underlying this familial case of FCD.

Supplementation with live Saccharomyces cerevisiae boulardii during the initial 42 days of the feedlot phase in Nellore beef cattle.

This study aimed to assess the effect of Saccharomyces cerevisiae boulardii CNCM I-1079 supplementation during the initial feeding period on the performance of Nellore bulls in a feedlot system. One hundred ninety-eight Nellore bulls were used in a completely randomized block design, with blocking based on weight within each treatment group: light (331.4 kg; 4 pens), medium (349.7 kg; 4 pens), and heavy (362.5 kg; 3 pens). The treatments included CON-a basal diet, and SCB-basal diet plus a probiotic (Saccharomyces cerevisiae boulardii CNCM I-1079; 1.0 × 1010 CFU/head/d). Experimental diets were administered for the first 42 d (21 d in the step-up phase and 21 d in the finishing diet -870 g concentrate/kg dry matter [DM]). Subsequently, both treatment groups were transitioned to the same basal diet for an additional 76 d, completing 118 d on feed. Linear regression analysis was conducted for dry matter intake (DMI) data. During the initial 42 d, DMI tended to be higher for SCB (P = 0.09); also bulls fed SCB reached the plateau of the curve at 9.17 kg DMI/d earlier (39 d, R2 = 0.97) than those fed CON (43 d; R2 = 0.96) diets. For the first 42 d, the SCB treatment exhibited higher final weight (393.0 vs. 401.4 kg, P = 0.02), total gain (49.3 vs. 53.5 kg, P = 0.02), daily weight gain (1.124 vs. 1.274 kg, P = 0.02), and G:F (0.174 vs. 0.188, P = 0.04). Over the entire 118-d period, SCB-fed bulls had greater final body weight (509.5 vs. 518.0 kg, P = 0.02), total body weight gain (163.7 vs. 170.3 kg, P = 0.01), and average daily gain (1.366 vs. 1.420 kg, P = 0.01). The feed efficiency of SCB-supplemented bulls was 8.05% higher than CON (P = 0.04), and the final carcass weight was 1.69% greater for animals fed SCB (283.8 vs. 288.6 kg, P = 0.04). Total carcass weight gain (110.9 vs. 114.7 kg) and daily carcass weight gain (0.924 vs. 0.956 kg) tended (P = 0.06) to increase by 3.46% in SCB-fed animals compared with those fed CON. Gain yield, carcass conversion, and carcass yield did not differ between treatments. There were no significant differences in the apparent digestibility of DM, crude protein, neutral detergent fiber, and ether extract between treatments. However, starch digestibility (92.7% vs. 88%) was greater for the control treatment (P < 0.001). Including live Saccharomyces cerevisiae boulardii yeast as a probiotic supplement during the initial 42 d in the feedlot enhanced early-stage growth performance in Nellore bulls. Notably, this supplementation carried over carcass gain over the entire feedlot period.

High-dose pulsed hyaluronidase for managing nasal skin necrosis following hyaluronic acid treatment in nasolabial folds: A case report.

The growing popularity of soft tissue filler injections has brought attention to the associated risks, particularly vascular complications, and their treatments. This case report focuses on a 34-year-old female who developed nasal skin necrosis following hyaluronic acid (HA) filler injection for nasolabial fold (NLF) enhancement. Despite the careful procedure, complications emerged rapidly, emphasizing the critical importance of prompt diagnosis and intervention. A total of 10,000 turbidity reducing units (TRU) of hyaluronidase (HSE) were administered in a high-dose pulsed manner, alongside hyperbaric oxygen therapy. The patient experienced a gradual but significant improvement over 60 days. This case underscores the need for constant vigilance in aesthetic medicine and the potential consequences of even minute HA amounts, exceeding zero, in causing severe vascular events.

A novel approach for deoxycholic acid administration to treat submental fullness: A case report assessed by 3D stereophotogrammetry.

Background: While effective, DAc injections for submental fat (SMF) reduction carry risks, including vascular damage and skin necrosis when improperly administered. This study presents a novel approach to SMF reduction using blunt microcannulas for DAc injections, coupled with 3D stereophotogrammetry quantification (3D-SQ). Clinical presentation: A 47-year-old female with SMF underwent two DAc applications. 3D-SQ was performed before and after each treatment using a 3D-SQ system. The patient experienced a substantial total volume reduction of 14.81 mL in the submental area after two DAc applications. 3D-SQ analysis showed a gradual reduction in submental volume over time. Importantly, no serious adverse events were reported, with only minor pain and warmth at the treated site. The reduction of SMF through DAc injections involves adipocyte cell lysis, emphasizing the importance of proper injection technique to avoid adverse events. The use of blunt microcannulas offers a safer alternative, minimizing the risk of skin necrosis, ulceration, and intra-arterial injections. Additionally, cannulas reduce bruising due to their blunt design and fan technique, enhancing patient comfort and safety. Conclusion: This case report highlights the efficacy of a novel cannula approach for DAc SMF reduction, assessed by 3D-SQ. Blunt microcannulas may represent a safer option compared to hypodermic needles, reducing the likelihood of severe complications.

Assessing the negative impact of chlorantraniliprole, isoxaflutole, and simazine pesticides on phospholipid membrane models and tilapia gill tissues.

The indiscriminate and, very often, incorrect use of pesticides in Brazil, as well as in other countries, results in severe levels of environmental pollution and intoxication of human life. Herein, we studied plasma membrane models (monolayer and bilayer) of the phospholipid Dioleoyl-sn-glycerol-3-phosphocholine (DOPC) using Langmuir films, and large (LUVs) and giant (GUVs) unilamellar vesicles, to determine the effect of the pesticides chlorantraniliprole (CLTP), isoxaflutole (ISF), and simazine (SMZ), used in sugarcane. CLTP affects the lipid organization of the bioinspired models of DOPC π-A isotherms, while ISF and SMZ pesticides significantly affect the LUVs and GUVs. Furthermore, the in vivo study of the gill tissue in fish in the presence of pesticides (2.0 × 10-10 mol/L for CLTP, 8.3 × 10-9 mol/L for ISF, and SMZ at 9.9 × 10-9 mol/L) was performed using optical and fluorescence images. This investigation was motivated by the gill lipid membranes, which are vital for regulating transporter activity through transmembrane proteins, crucial for maintaining ionic balance in fish gills. In this way, the presence of phospholipids in gills offers a model for understanding their effects on fish health. Histological results show that exposure to CLTP, ISF, and SMZ may interfere with vital gill functions, leading to respiratory disorders and osmoregulation dysfunction. The results indicate that exposure to pesticides caused severe morphological alterations in fish, which could be correlated with their impact on the bioinspired membrane models. Moreover, the effect does not depend on the exposure period (24h and 96h), showing that animals exposed to pesticides for a short period suffer irreparable damage to gill tissue. In summary, we can conclude that the harm caused by pesticides, both in membrane models and in fish gills, occurs due to contamination of the aquatic system with pesticides. Therefore, water quality is vital for the preservation of ecosystems.

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort.

Purpose: The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods: The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry biallelic pathogenic variants in PCARE. Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field test, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging. Genetic screening was performed either by gene panel sequencing or by exome sequencing. Results: According to the results of multimodal imaging and functional tests, all 14 patients were diagnosed with cone-rod dystrophy. Six different PCARE pathogenic alleles were identified in our cohort, including three novel mutations: c.3048_3049del (p.Tyr1016∗), c.3314_3315del (p.Ser1105∗), and c.551A > G (p.His184Arg). Notably, alleles p.His184Arg, p.Arg613∗, and p.Arg984∗ were present in 18 of the 22 (82%) PCARE alleles from probands in our cohort. Conclusion: Our work expands the PCARE mutational profile by identifying three novel pathogenic variants causing retinal dystrophy. While phenotypic variations occurred among patients, a cone-rod dystrophy pattern was observed in all affected individuals.

Respiratory activity during seizures induced by pentylenetetrazole.

This study investigated the respiratory activity in adult Wistar rats across different behavioral seizure severity induced by pentylenetetrazole (PTZ). Animals underwent surgery for electrodes implantation, allowing simultaneous EEG and diaphragm EMG (DIAEMG) recordings and the respiratory frequency and DIAEMG amplitude were measured. Seizures were acutely induced through PTZ injection and classified based on a pre-established score, with absence-like seizures (spike wave discharge (SWD) events on EEG) representing the lowest score. The respiratory activity was grouped into the different seizure severities. During absence-like and myoclonic jerk seizures, the breathing frequency decreased significantly (∼50% decrease) compared to pre- and post-ictal periods. Pronounced changes occurred with more severe seizures (clonic and tonic) with periods of apnea, especially during tonic seizures. Apnea duration was significantly higher in tonic compared to clonic seizures. Notably, during PTZ-induced tonic seizures the apnea events were marked by tonic DIAEMG contraction (tonic-phase apnea). In the majority of animals (5 out of 7) this was a fatal event in which the seizure-induced respiratory arrest preceded the asystole. In conclusion, we provide an assessment of the respiratory activity in the PTZ-induced acute seizures and showed that breathing dysfunction is more pronounced in seizures with higher severity.

Performance of the 2019 American College of Rheumatology/European League Against Rheumatism Classification Criteria for IgG4-Related Disease in a Latin American Cohort.

BACKGROUND/OBJECTIVE: The 2019 American College of Rheumatology/European League Against Rheumatism Classification Criteria (2019 AECC) for IgG4-related disease (IgG4-RD) is considered a significant advancement in the study of this condition. Most studies evaluating their performance have focused on White and Asian patients, leaving a knowledge gap regarding Latin American populations. Therefore, this study aimed to assess the performance of the 2019 AECC for IgG4-RD in a cohort of Latin American patients. METHODS: A multicenter medical records review study was conducted, involving centers from Argentina, Chile, Mexico, Peru, and Uruguay. Data on IgG4-RD patients and mimicker conditions were collected through a standardized online form. The criterion standard for diagnosing IgG4-RD was based on the fulfillment of the Comprehensive Diagnostic Criteria for IgG4-RD and/or the Consensus Statement on Pathology. The 2019 AECC was retrospectively applied. RESULTS: We included 300 patients, with 180 (60%) having IgG4-RD and 120 (40%) having mimicker conditions. The 2019 AECC had a sensitivity of 66.7% and a specificity of 100%. Sensitivity increased to 73.3% when disease-specific autoantibody items were removed, without affecting specificity. The true-positive cases had more involved organs, a higher availability of biopsy results, and were more likely to belong to the Mikulicz/systemic and proliferative phenotypes. CONCLUSIONS: The use of the 2019 AECC for IgG4-RD in a Latin American population confirms its high specificity in excluding those without the disease. The presence of concomitant autoimmune diseases and clinically nonsignificant disease-specific autoantibodies excludes a significant number of patients from fulfilling the criteria.

Intense craving for eat: standardization of the Food Cravings Questionnaire-State in Mexico.

BACKGROUND: Food craving is an intense-compulsive response to eating highly appetizing foods. The Food Cravings Questionnaire-State (FCQ-S) is the most used instrument for its diagnosis. It is a multidimensional instrument, sensitive and adaptable to contextual and cultural changes. OBJECTIVE: To standardize the FCQ-S in the adult population of Mexico City. METHOD: Non-experimental, cross-sectional, at convenience design, with 1059 adults of both sexes, aged 18-84 years. It is highlighted that 71.9% of the participants were women. RESULTS: A reliability coefficient of 0.95 was obtained, the correlations between the items were from r = 0.598 to r = 0.793. With the exploratory factorial analysis, an MKO of sampling adequacy of 0.943 was obtained, and with the Bartlett sphericity test a p = 0.000. The factors explain 78.61% of the total variation of the data. The RMSEA was 0.068, which indicates an acceptable fit. The CFI was 0.974, considered good, and NNFI was 0.969, good fit. The correlations ranged from p < 0.05 to p < 0.01, showing a connection between the different dimensions. CONCLUSIONS: The FCQ-S is valid and adaptable in the Mexican population.

ANTECEDENTES: El food craving es un deseo intenso y compulsivo de comer alimentos altamente apetecibles. El Food Cravings Questionnaire-State (FCQ-S) es el instrumento más utilizado para su diagnóstico. Es un instrumento multidimensional, sensible y adaptable a cambios contextuales y culturales. OBJETIVO: estandarizar el FCQ-S en población adulta de la Ciudad de México. MÉTODO: Diseño no experimental, transversal y a conveniencia por método de bola de nieve, con 1059 adultos ambos sexos y de 18-84 años. Se destaca que el 71.9% de los participantes fueron mujeres. RESULTADOS: Se obtuvo un coeficiente de fiabilidad de 0.95 y las correlaciones entre los ítems fueron de r = 0.598 a r = 0.793. Con el análisis factorial exploratorio se obtuvo una MKO de adecuación de muestreo de 0.943, y con la prueba de esfericidad de Bartlett una p = 0.000. Los factores explican el 78.61% de la variación total de los datos. La RMSEA fue 0.068, lo cual indica ajuste aceptable. El CFI fue 0.974, considerado bueno, y el NNFI fue 0.969 (buen ajuste). Las correlaciones fueron de p < 0.05 a p < 0.01, lo que muestra una conexión entre las diferentes dimensiones. CONCLUSIONES: El FCQ-S es válido y adaptable en población mexicana.

Necesidad de información preoperatoria en pacientes intervenidos en el servicio de otorrinolaringología / Need for preoperative information in patients undergoing surgery in the Otorhinolaryngology Department

Resumen Objetivo: determinar las necesidades de información en el preoperatorio de los pacientes atendidos en el servicio de otorrinolaringología del Hospital Nacional Arzobispo Loayza de Lima, Perú. Métodos: investigación de tipo descriptiva y de corte transversal. Se estudiaron 127 pacientes quirúrgicos del servicio de otorrinolaringología. Se utilizó un cuestionario de demandas de información y conocimiento de los pacientes en cuanto a su derecho de decidir una cirugía; contiene preguntas referentes a la descripción de la técnica quirúrgica, complicaciones y riesgos que conlleva la cirugía. Se utilizó una muestra no probabilística por conveniencia, así como el análisis de los datos, el cual se realizó con el paquete estadístico SPSS en versión 25. Para evaluar la correlación entre variables se empleó la prueba chi-cuadrado. Resultados: participaron 127 pacientes, más de 75% de ellos deseaban conocer más información sobre su enfermedad y el tratamiento quirúrgico, 90% manifestaron el deseo de tener una explicación de cómo se realizará la cirugía, 85% necesitaban conocer las complicaciones frecuentes, 20% deseaba ignorar la información sobre posibilidad de muerte. Los adultos jóvenes y el grupo con educación superior demandaban más información (p<0.05), no presentaron diferencias respecto al sexo, salvo en la necesidad de conocer el riesgo de muerte a causa de la cirugía, a favor del sexo femenino (p<0,05). Conclusiones: la mayoría de los pacientes necesitan una información detallada durante la evaluación preoperatoria, principalmente en los grupos de adultos jóvenes y con educación superior. Los médicos debemos brindar información suficiente, clara y con expectativas reales, respetando la autonomía del paciente en la toma de decisiones.

Abstract Aim: To determine the informational needs of preoperative patients being attended at the Otorhinolaryngology Service of the Hospital Nacional Arzobispo Loayza of Lima, Peru. Methods: Using cross-sectional descriptive research, 127 surgical patients from the Otorhinolaryngology Service were studied. A questionnaire asked what information and knowledge the patients had when exercising their right to decide surgery. It contained questions concerning the description of the surgical technique, complications, and risks involved in the surgery. A non probability sample by convenience was used and the data analysis was performed with the SPSS statistical package in version 25 and the chisquare test was used to evaluate the correlation between variables. Results: 127 patients participated, more than 75% of patients wanted to know more information about their disease and the surgical treatment, 90% stated that they needed an explanation of how the surgery would be performed, 85% wanted to know the common complications, and 20% wanted to ignore the possibility of death. Young adults and the group with higher education demanded more information (p<0.05). Concerning sex, there were no differences between the men and women in their answers other than the females needing to know the risk of death due to surgery (p<0.05). Conclusions: Most patients need detailed information during the preoperative evaluation, especially young adults and those with higher education. Physicians should provide sufficient, clear information with realistic expectations, respecting the patient's autonomy in decision-making.

Improved Sugarcane-Based Fermentation Processes by an Industrial Fuel-Ethanol Yeast Strain.

In Brazil, sucrose-rich broths (cane juice and/or molasses) are used to produce billions of liters of both fuel ethanol and cachaça per year using selected Saccharomyces cerevisiae industrial strains. Considering the important role of feedstock (sugar) prices in the overall process economics, to improve sucrose fermentation the genetic characteristics of a group of eight fuel-ethanol and five cachaça industrial yeasts that tend to dominate the fermentors during the production season were determined by array comparative genomic hybridization. The widespread presence of genes encoding invertase at multiple telomeres has been shown to be a common feature of both baker's and distillers' yeast strains, and is postulated to be an adaptation to sucrose-rich broths. Our results show that only two strains (one fuel-ethanol and one cachaça yeast) have amplification of genes encoding invertase, with high specific activity. The other industrial yeast strains had a single locus (SUC2) in their genome, with different patterns of invertase activity. These results indicate that invertase activity probably does not limit sucrose fermentation during fuel-ethanol and cachaça production by these industrial strains. Using this knowledge, we changed the mode of sucrose metabolism of an industrial strain by avoiding extracellular invertase activity, overexpressing the intracellular invertase, and increasing its transport through the AGT1 permease. This approach allowed the direct consumption of the disaccharide by the cells, without releasing glucose or fructose into the medium, and a 11% higher ethanol production from sucrose by the modified industrial yeast, when compared to its parental strain.

How to improve infraorbital hollows with neuromodulators-A clinical prospective interventional study about the application of facial biomechanics.

BACKGROUND: A previous injection algorithm termed the "Toxin Lift" was recently introduced and described volume increases in the midface following neuromodulator treatments of the jawline. Increase in midfacial volume due to soft tissue repositioning could also affect the severity of infraorbital hollows. OBJECTIVE: The objective is therefore to evaluate whether the severity of infraorbital hollows can be improved by injecting neuromodulators in the supra-mandibular segment of the platysma. MATERIALS AND METHODS: A total of 35 volunteers (11 males/24 females) with a mean age of 39.8 (9.6) years and a mean BMI of 25.2 (5.2) kg/m2 were investigated. Bilateral infraorbital regions were evaluated via clinical assessment and semi-quantitative 3D imaging. The applied injection technique targeted the platysma via four injection points administering 5 I.U. per injection point resulting in a total of 20 I.U. per facial side. RESULTS: Volume increase of the infraorbital region was 0.13 cc at 15 days (p = 0.001) and was 0.02 cc at 30 days (p = 0.452) whereas the skin displacement in cranial direction was 0.54 mm at 15 days (p < 0.001) and was 0.31 mm at 30 days (p < 0.001). Clinical evaluation revealed a highly statistically significant improvement of the tear trough, palpaebromalar groove, and of the lid-cheek junction when compared to baseline with all p < 0.001. CONCLUSION: The results of this clinical prospective interventional analysis revealed that the "Toxin Lift" injection technique is capable to improve the clinical appearance of infraorbital hollows. The effects can be explained by the concepts of facial biomechanics.

Metabolic signatures of cardiorenal dysfunction in plasma from sickle cell patients as a function of therapeutic transfusion and hydroxyurea treatment.

Metabolomics studies in sickle cell disease (SCD) have been so far limited to tens of samples, owing to technical and experimental limitations. To overcome these limitations, we performed plasma metabolomics analyses on 596 samples from patients with SCD enrolled in the WALK-PHaSST study (clinicaltrials gov. Identifier: NCT00492531). Clinical covariates informed the biological interpretation of metabolomics data, including genotypes (hemoglobin [Hb] SS, hemoglobin SC), history of recent transfusion (HbA%), response to hydroxyurea treatment (fetal Hb%). We investigated metabolic correlates to the degree of intravascular hemolysis, cardiorenal function, as determined by tricuspid regurgitation velocity (TRV), estimated glomerular filtration rate (eGFR), and overall hazard ratio (unadjusted or adjusted by age). Recent transfusion events or hydroxyurea treatment were associated with elevation in plasma-free fatty acids and decreases in acyl-carnitines, urate, kynurenine, indoles, carboxylic acids, and glycine- or taurine-conjugated bile acids. High levels of these metabolites, along with low levels of plasma S1P and L-arginine were identified as top markers of hemolysis, cardiorenal function (TRV, eGFR), and overall hazard ratio. We thus uploaded all omics and clinical data on a novel online portal that we used to identify a potential mechanism of dysregulated red cell S1P synthesis and export as a contributor to the more severe clinical manifestations in patients with the SS genotype compared to SC. In conclusion, plasma metabolic signatures - including low S1P, arginine and elevated kynurenine, acyl-carnitines and bile acids - are associated with clinical manifestation and therapeutic efficacy in SCD patients, suggesting new avenues for metabolic interventions in this patient population.

Different types of Status Epilepticus may lead to similar hippocampal epileptogenesis processes.

About 1-2% of people worldwide suffer from epilepsy, which is characterized by unpredictable and intermittent seizure occurrence. Despite the fact that the exact origin of temporal lobe epilepsy is frequently unknown, it is frequently linked to an early triggering insult like brain damage, tumors, or Status Epilepticus (SE). We used an experimental approach consisting of electrical stimulation of the amygdaloid complex to induce two behaviorally and structurally distinct SE states: Type I (fully convulsive), with more severe seizure behaviors and more extensive brain damage, and Type II (partial convulsive), with less severe seizure behaviors and brain damage. Our goal was to better understand how the various types of SE impact the hippocampus leading to the development of epilepsy. Despite clear variations between the two behaviors in terms of neurodegeneration, study of neurogenesis revealed a comparable rise in the number of Ki-67 + cells and an increase in Doublecortin (DCX) in both kinds of SE.

Analysis of the Genomic Features and Evolutionary History of Pithovirus-Like Isolates Reveals Two Major Divergent Groups of Viruses.

New representatives of the phylum Nucleocytoviricota have been rapidly described in the last decade. Despite this, not all viruses of this phylum are allocated to recognized taxonomic families, as is the case for orpheovirus, pithovirus, and cedratvirus, which form the proposed family Pithoviridae. In this study, we performed comprehensive comparative genomic analyses of 8 pithovirus-like isolates, aiming to understand their common traits and evolutionary history. Structural and functional genome annotation was performed de novo for all the viruses, which served as a reference for pangenome construction. The synteny analysis showed substantial differences in genome organization between these viruses, with very few and short syntenic blocks shared between orpheovirus and its relatives. It was possible to observe an open pangenome with a significant increase in the slope when orpheovirus was added, alongside a decrease in the core genome. Network analysis placed orpheovirus as a distant and major hub with a large fraction of unique clusters of orthologs, indicating a distant relationship between this virus and its relatives, with only a few shared genes. Additionally, phylogenetic analyses of strict core genes shared with other viruses of the phylum reinforced the divergence of orpheovirus from pithoviruses and cedratviruses. Altogether, our results indicate that although pithovirus-like isolates share common features, this group of ovoid-shaped giant viruses presents substantial differences in gene contents, genomic architectures, and the phylogenetic history of several core genes. Our data indicate that orpheovirus is an evolutionarily divergent viral entity, suggesting its allocation to a different viral family, Orpheoviridae. IMPORTANCE Giant viruses that infect amoebae form a monophyletic group named the phylum Nucleocytoviricota. Despite being genomically and morphologically very diverse, the taxonomic categories of some clades that form this phylum are not yet well established. With advances in isolation techniques, the speed at which new giant viruses are described has increased, escalating the need to establish criteria to define the emerging viral taxa. In this work, we performed a comparative genomic analysis of representatives of the putative family Pithoviridae. Based on the dissimilarity of orpheovirus from the other viruses of this putative family, we propose that orpheovirus be considered a member of an independent family, Orpheoviridae, and suggest criteria to demarcate families consisting of ovoid-shaped giant viruses.

USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.

Background: Mutations in the USH2A gene are the leading cause of both non-syndromic autosomal recessive retinitis pigmentosa (RP) and Usher syndrome, a syndromic form of RP characterized by retinal dystrophy and sensorineural hearing loss. To contribute to the expansion of the USH2A-related molecular spectrum, the results of genetic screening in a large cohort of Mexican patients are presented. Methods: The study population comprised 61 patients with a clinical diagnosis of either non-syndromic RP (n = 30) or Usher syndrome type 2 (USH2; n = 31) who were demonstrated to carry biallelic pathogenic variants in USH2A in a three-year period. Genetic screening was performed either by gene panel sequencing or by exome sequencing. A total of 72 available first- or second-degree relatives were also genotyped for familial segregation of the identified variants. Results: The USH2A mutational spectrum in RP patients included 39 distinct pathogenic variants, most of them of the missense type. The most common RP-causing variants were p.Cys759Phe (c.2276G>T), p.Glu767Serfs*21 (c.2299delG), and p.Cys319Tyr (c.956G>A), which together accounted for 25% of all RP variants. Novel USH2A mutations included three nonsense, two missense, two frameshift, and one intragenic deletion. The USH2A mutational spectrum in USH2 patients included 26 distinct pathogenic variants, most of them of the nonsense and frameshift types. The most common Usher syndrome-causing variants were p.Glu767Serfs*21 (c.2299delG), p.Arg334Trp (c.1000C>T), and c.12067-2A>G), which together accounted for 42% of all USH2-related variants. Novel Usher syndrome USH2A mutations included six nonsense, four frameshift, and two missense mutations. The c.2299delG mutation was associated with a common haplotype for SNPs located in exons 2-21 of USH2A, indicating a founder mutation effect. Conclusions: Our work expands the USH2A mutational profile by identifying 20 novel pathogenic variants causing syndromic and non-syndromic retinal dystrophy. The prevalent c.2299delG allele is shown to arise from a founder effect. Our results emphasize the usefulness of molecular screening in underrepresented populations for a better characterization of the molecular spectrum of common monogenic diseases.

Similar regional-scale survival of tropical and southern temperate birds from the New World.

The general assumption that the survival patterns of tropical and southern temperate birds are similar lacks empirical data from higher latitudes. Regional comparisons of New World species are rare, and this assumption has been based on data from African studies. Here, we estimate the survival rates of 88 tropical and southern temperate bird populations (69 species) from eight localities in South America to evaluate the hypothesis that the survival of these populations is homogeneous at the regional scale. We estimated survival based on the Cormack-Jolly-Seber model and compared values from different environments. The survival estimates ranged from 0.30 to 0.80 (0.56 ± 0.12). Apparent survival did not differ significantly between low-latitude tropical environments (03°S) and the other sites from high-latitudes (between 22° and 34°S). Despite a predicted positive trend, body size was not significantly related to survival among passerines. On the other hand, phylogenetic relationships explained more than a third of the variation in bird survival. Based on the largest available database on South American bird species, our findings support the hypothesis that bird survival is homogeneous, at the regional scale, along the southern hemisphere. In particular, we reinforce the hypothesis that climatic variation has a limited influence on bird survival in the southern hemisphere.

Validation of a New HPLC-DAD Method to Quantify 3-Deoxyanthocyanidins Based on Carajurin in Medicinal Plants and for Chemical Ecology Studies.

Anthocyanidins are found in nature mainly as pelargonidin, cyanidin, peonidin, delphinidin, petunidin, and malvidin derivatives. These compounds are found free or as glycoside derivatives which are responsible for the color (red, blue, and violet) of some foods and are responsible for attracting seed dispersers. They are grouped into 3-hydroxyanthocyanidins, 3-deoxyanthocyanidins (3D-anth), and O-methylated anthocyanidins. A new method was developed and validated to quantify 3D-anth in plant-rich extracts. To test the new method, Arrabidaea chica Verlot was selected as it is widely used in folk medicine, and it is rich in 3D-anth. The new method was developed by HPLC-DAD and expressed 3D-anth as carajurin content. Carajurin was chosen as the reference standard due to its role as a biological marker for the antileishmanial activity for A. chica. The selected method used a silica-based phenyl column, a mobile phase composed of potassium dihydrogen phosphate buffer, acetonitrile, and methanol, in a gradient elution mode and detection at 480 nm. The method reliability was confirmed by verifying selectivity, linearity, precision, recovery, and robustness. This method contributes to quality control and development of a possible active pharmaceutical ingredient from A. chica as well as it can be used to evaluate 3D-anth in plant extracts with chemical ecology interest.

"What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras".

Three well-studied populations living at high altitudes are Tibetans, Andeans (Aymaras and Quechuas), and Ethiopians. Unlike Tibetans and Ethiopians who have similar hemoglobin (Hb) levels as individuals living at sea level, Aymara Hb levels increase when living at higher altitudes. Our previous whole genome study of Aymara people revealed several selected genes that are involved in cardiovascular functions, but their relationship with Hb levels was not elucidated. Here, we studied the frequencies of known evolutionary-selected variants in Tibetan and Aymara populations and their correlation with high Hb levels in Aymara. We genotyped 177 Aymaras at three different altitudes: 400 m (Santa Cruz), 4000 m (La Paz), and 5000 m (Chorolque), and correlated the results with the elevation of residence. Some of the Tibetan-selected variants also exist in Aymaras, but at a lower prevalence. Two of 10 Tibetan selected variants of EPAS1 were found (rs13005507 and rs142764723) and these variants did not correlate with Hb levels. Allele frequencies of 5 Aymara selected SNPs (heterozygous and homozygous) at 4000 m (rs11578671_BRINP3, rs34913965_NOS2, rs12448902_SH2B1, rs10744822_TBX5, and rs487105_PYGM) were higher compared to Europeans. The allelic frequencies of rs11578671_BRINP3, rs34913965_NOS2, and rs10744822_SH2B1 were significantly higher for Aymaras living at 5000 m than those at 400 m elevation. Variant rs11578671, close to the BRINP3 coding region, correlated with Hb levels in females. Variant rs34913965 (NOS2) correlated with leukocyte counts. Variants rs12448902 (SH2B1) and rs34913965 (NOS2) associated with higher platelet levels. The correlation of these SNPs with blood cell counts demonstrates that the selected genetic variants in Aymara influence hematopoiesis and cardiovascular effects.