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Low-frequency sensorineural hearing loss (SNHL) is a rare hearing impairment affecting frequencies below 1000 Hz, previously associated with DIAPH1, WSF1, MYO7A, TNC, SLC26A4 or CCDC50 genes. By exome sequencing, we report a novel nonsense variant in CENPP gene, segregating low-frequency SNHL in five affected members in a Swiss family with autosomal dominant inheritance pattern. Audiological evaluation showed up-sloping audiometric configuration with mild-to-moderate losses below 1000 Hz, that progresses to high-frequencies over time. Protein modeling shows that the variant truncates five amino acids at the end, losing electrostatic interactions that alter protein stability. CENPP gene is expressed in the supporting cells of the organ of Corti and takes part as a subunit of the Constitutive Centromere Associated Network in the kinetochore, that fixes the centromere to the spindle microtubules. We report CENPP as a new candidate gene for low-frequency SNHL. Further functional characterization might enable us to elucidate its molecular role in SNHL.

One of the most important aspects of genetic evaluation (GE) is the definition of contemporary groups (CG), commonly defined as animals of the same sex born in the same herd, year and season. The objective of this study was to use an aridity index (AI) to classify season and evaluate the implications on the GE of Braunvieh cattle. A data set with 32 777 and 22 448 birth weight (BW) and weaning weight adjusted to 240 days (WW) records, respectively, was used to compare two methods of classification of climatic seasons to be used in the definition of CG for GE models. The first method considered rain season criterion (RC), and the second method is a proposed classification using an AI. Both methods were compared using two approaches. The first approach examined differences in mixed models using the RC and AI season to select the best model for BW and WW, evaluated by different goodness of fit measures. The second approach considered fitting a GE model including the season classifications into the CG structure. Lower probability values for season effect and better goodness of fit measures were obtained when the season was classified according to the AI. Results showed that although differences are small, the AI allows a better model fitting for live-weight traits than RC and revealed a re-ranking effect on expected progeny differences data. Further analysis with other traits would demonstrate the extended utility of AI indicators to be considered for fitting models under a climatic change environment.

The Attitude Scale to Lesbian, Gay, Bisexual and Transgender Old Age (EAFV-LGBT) evaluates attitudes towards LGBT older adults. The main goal of this research was to adapt and examine the psychometric properties in a Spanish-speaking sample. The sample consisted of 521 Colombian adults (36.3% men and 63.7% women) with a mean age equal to 27.39 (SD = 9.27). Participants completed a Socio-Demographic and Sexual History Questionnaire, the Hispanic translations of the EAFV-LGBT, the Subtle and Manifest Prejudice Scale towards Homosexuals, and the Big Five Personality Trait Short Questionnaire. The results showed that the Colombian EAFV-LGBT has good psychometric properties. The structure of the scale was unidimensional, and the internal consistency reliability was also adequate. Likewise, the convergent validity of the scale was verified by correlating it with another measure that evaluates explicit and implicit homophobia. In addition, it was found that there was a relationship between personality traits and attitudes towards LGBT adults. Specifically, participants with lower openness, extraversion, and agreeableness reported more negative attitudes toward older LGBT people.

To review the outcomes of patients who underwent autologous oocyte thaw after planned oocyte cryopreservation.Retrospective cohort study.Large urban university-affiliated fertility center.All patients who underwent ≥1 autologous oocyte thaw before December 31, 2020.None.The primary outcome was the final live birth rate (FLBR) per patient, and only patients who had a live birth (LB) or consumed all remaining inventory (cryopreserved oocytes and resultant euploid/untested/no result embryos) were included. The secondary outcomes were laboratory outcomes and LB rates per transfer.A total of 543 patients underwent 800 oocyte cryopreservations, 605 thaws, and 436 transfers. The median age at the first cryopreservation was 38.3 years. The median time between the first cryopreservation and thaw was 4.2 years. The median numbers of oocytes and metaphase II oocytes (M2s) thawed per patient were 14 and 12, respectively. Overall survival of all thawed oocytes was 79%. Of all patients, 61% underwent ≥1 transfer. Among euploid (n = 262) and nonbiopsied (n = 158) transfers, the LB rates per transfer were 55% and 31%, respectively. The FLBR per patient was 39%. Age at cryopreservation and the number of M2s thawed were predictive of LB; the FLBR per patient was50% for patients aged38 years at cryopreservation or who thawed ≥20 M2s. A total of 173 patients (32%) have remaining inventory.Autologous oocyte thaw resulted in a 39% FLBR per patient, which is comparable with age-matched in vitro fertilization outcomes. Studies with larger cohorts are necessary.

Miocene strike-slip tectonics was responsible for creating and closing short-lived (ca. 6 Ma) passages and the emergence of isolated topography in the Northern Andes. These geological events likely influenced the migration and/or isolation of biological populations. To better understand the paleogeography of the Miocene hinterland and foreland regions in the Northern Andes, we conducted a source-to-sink approach in the Magdalena Basin. This basin is located between the Central and Eastern Cordilleras of Colombia and contains an ample Miocene record, which includes Lower Miocene fine-grained strata and Middle Miocene to Pliocene coarsening-up strata. Our study presents a new data set that includes detrital U–Pb zircon ages (15 samples), sandstone petrography (45 samples) and low-temperature thermochronology from the Southern Central Cordillera (19 dates); which together with previously published data were used to construct a paleogeographical model of the Miocene hinterland and foreland regions in the Northern Andes. The evolution of the Magdalena Basin during the Miocene was characterized by playa and permanent lake systems at ca. 17.5 Ma, which may be related to a marine incursion into NW South America and western Amazonia. The appearance of Eocene to Miocene volcanic sources in the Honda Group after ca. 16 Ma suggests the development of fluvial passages, which connected the Pacific with the western Amazonia and Caribbean regions. These passages were synchronous with a time of Miocene exhumation and topographic growth (ca. 16 to 10 Ma) in the Central Cordillera and the transition from lacustrine to fluvial deposition in the Magdalena Basin. Middle to Late Miocene strike-slip deformation promoted by oblique plate convergence and the oblique collision of the Panamá-Chocó Block likely explains the synchronous along-strike fragmentation and exhumation in the Central Cordillera.

Meniere disease (MD) is a rare disorder of the inner ear defined by sensorineural hearing loss (SNHL) associated with episodes of vertigo and tinnitus. The phenotype is variable, and it may be associated with other comorbidities such as migraine, respiratory allergies, and several autoimmune disorders. The condition has a significant heritability according to epidemiological and familial segregation studies. Familial MD is found in 10% of cases, the most frequently found genes being OTOG, MYO7A, and TECTA , previously associated with autosomal dominant and recessive non-syndromic SNHL. These findings suggest a new hypothesis where proteins involved in the extracellular structures in the apical surface of sensory epithelia (otolithic and tectorial membranes) and proteins in the stereocilia links would be key elements in the pathophysiology of MD. The ionic homeostasis of the otolithic and tectorial membranes could be critical to suppress the innate motility of individual hair cell bundles. Initially, focal detachment of these extracellular membranes may cause random depolarization of hair cells and will explain changes in tinnitus loudness or trigger vertigo attacks in early stages of MD. With the progression of the disease, a larger detachment will lead to an otolithic membrane herniation into the horizontal semicircular canal with dissociation in caloric and head impulse responses. Familial MD shows different types of inheritance, including autosomal dominant and compound recessive patterns and implementation of genetic testing will improve our understanding of the genetic structure of MD., CAUL and its Member Institutions, Andalusian University, Research and Innovation Department (Grant# PREDOC2021/00343), Instituto de Salud Carlos III (Grant# PI20-1126), CIBERER (Grant# PIT21_GCV21), Andalusian University, Research and Innovation Department (PY20-00303, EPIMEN), Andalusian Health Department (Grant# PI027-2020), Asociacion Sindrome de Meniere España (ASMES, Meniere’s Society, UK.

Supplemental Material and Methods. Cell lines, Transfections, Precipitation of Proteins by TCA-DOC , Co-immunoprecipitation (Co-IP) from Cell Lysates, Preparation of Cell Lysates

Supplemental Figure Legends S1-S7. Supplemental Figure Legends

Supplemental Figures S1-S7: Supplemental Figure S1: The effect of γ-secretase inhibition on ectodomain cleavage Supplemental Figure S2. Regulated cleavage targets substrates after surface expression Supplemental Figure S3: Interaction between CD44 and Merlin. Supplemental Figure S4: The tumor suppressor merlin (Nf2) inhibits CD44 cleavage. Supplemental Figure S5. Exemplified analysis of the constructs used in the migration assay of Figure 7A and Supplemental Figure 6 Supplemental Figure S6: Examplified photographs of one of the scratch assays with MEFs as shown in Figure 7A. Supplemental Figure S7: Loading diagrams of Figures 3B and 4C

Advances in Artificial Intelligence (AI) are giving rise to a multitude of AI-embedded technologies that are increasingly impacting all aspects of modern society. Yet, there is a paucity of rigorous research that advances understanding of when, and which type of, individuals are more likely to question AI-based recommendations due to perceived racial and gender bias. This study, which is part of a larger research stream contributes to knowledge by using a scenario-based survey that was issued to a sample of 387 U.S. participants. The findings suggest that, considering perceived racial and gender bias, Human Resource (HR) recruitment and financial product/service procurement scenarios exhibit a higher questioning likelihood. Meanwhile, the healthcare scenario presents the lowest questioning likelihood. Furthermore, in the context of this study, U.S. participants tend to be more susceptible to questioning AI-based recommendations due to perceived racial bias rather than gender bias.

Background Clostridioides difficile infection (CDI) is a disease that is potentially preventable by vaccination. A good knowledge of its epidemiology, which can change over time, is warranted for prevention purposes and to help decision-making on the use of vaccines in public health programs. The objective of the research was to determine the epidemiology of healthcare-associated CDI (HA-CDI) and community-associated CDI (CA-CDI) in hospitalized patients in Spain using point prevalence data. Methods Point prevalence survey data on infections of hospitalized patients for years 2012–2019 were analyzed. HA-CDI and CA-CDI prevalence rates were calculated. Both HA-CDI and CA-CDI, as well as age group prevalence rates, were examined for trends. Patient comorbidities were tested for association to CDI. Results The prevalence of CDI in Spanish hospitals has grown exponentially from 14.1% in 2012 to 35.9% in 2019 (cases/10.000 hospitalized patients). Almost two thirds of the cases are of nosocomial onset. This increase was observed for HA-CDI and CA-CDI at an annual rate of 1.11% (CI 95% 1.08–1.15) and 1.09% (CI 95% 1.04–1.13), respectively. Patients 50 years old or older represent 87% of the total number of cases. Patients suffering from neoplasm (OR 1.39), immunodeficiency (OR 3.26), neutropenia (OR 3.70), cirrhosis (OR 1.92) and chronic renal failure (OR 1.91) have a significant increased risk of developing CDI, after adjusting for age. Conclusion In Spain, the prevalence rate of both HA-CDI and CA-CDI have been increasing. Burden of CDI as well as clinical and epidemiological characteristics of CDI patients will help to support public health decision-making.

Cellulose nanofibers (CNF) are demonstrated as an effective tool for converting electrodeposits into more easily detachable dendritic deposits useful in recycling zinc ion batteries via electrowinning. The incorporation of CNF at concentrations ranging from 0.01 to 0.5 g/L revealed a progressively extensive formation of a nacre-like dendritic zinc structure that did not form in its absence. Increasing CNF-concentrations from 0.01 to 0.5 g/L resulted in more extensive dendritic structures forming. The explanation to the observed phenomenon is the CNFs ability to strongly interact with the metal ions, i.e., restricting the mobility of the ions towards the electrowinning electrode. At the highest concentration of CNF (0.5 g/L), in combination with the lowest current density (150 A/m2), the electrodeposition was limited to the extent that formed deposits were almost non-existent. The electrodeposition in the presence of CNF was further evaluated at different temperatures: 20, 40 and 60°C. The dendritic formation was increasingly suppressed with increasing temperatures, and at a temperature of 60°C, the electrodeposited morphologies could not be differentiated from the morphologies formed in the absence of the cellulose. The results stemmed from a greater mobility of the metal ions at elevated temperatures, while at the same time suggests an inability of the CNF to strongly associate the metal ions at the elevated temperatures. High-pressure blasted titanium electrodes were used a reference material for accurate comparisons, and electron microscopy (FE-SEM) and X-ray diffraction were used to characterize the zinc morphologies and crystallite sizes, respectively. The article reports the first investigation on how dispersions of highly crystalline cellulose nanofibers can be used as a renewable and functional additive during the recycling of battery metal ions. The metal-ion/cellulose interactions may also allow for structural control in electrodeposition for other applications. Correction in DOI 10.1039/D3MA90041JQC 20220503

Romosinuano is a tropically adapted Bos taurus breed, and some Mexican breeders look to improve it genetically. The aim was to estimate allelic and genotypic frequencies for SNPs associated with meat quality in a Mexican Romosinuano population. Four hundred ninety-six animals were genotyped using the Axiom©BovMDv3 array. Only SNPs related to meat quality in this array were studied in this analysis. The Calpain, Calpastatin, and Melanocortin-4 receptor alleles were considered. Allelic and genotypic frequencies and Hardy-Weinberg equilibrium were estimated with the PLINK software. Principal component analysis was carried out with the meat quality SNPs information to determine stratification by haplotype in genes of the population. Alleles associated with meat tenderness, higher marbling score, and lower shear force were found in the Romosinuano cattle population. CAPN1_4751 was found in Hardy Weinberg equilibrium. The rest of the markers could be affected by selection and inbreeding. Romosinuano cattle in Mexico have similar genotypic frequencies in markers related to meat quality to Bos taurusbreeds known for their meat tenderness. Breeders can choose a marker-assisted selection to improve meat quality characteristics.

Periodontitis has been commonly linked to periodontopathogens categorized in Socransky’s microbial complexes; however, there is a lack of knowledge regarding “other microorganisms” or “cryptic microorganisms”, which are rarely thought of as significant oral pathogens and have been neither previously categorized nor connected to illnesses in the oral cavity. This study hypothesized that these cryptic microorganisms could contribute to the modulation of oral microbiota present in health or disease (periodontitis and/or obstructive sleep apnea (OSA) patients). For this purpose, the presence and correlation among these cultivable cryptic oral microorganisms were identified, and their possible role in both conditions was determined. Data from oral samples of individuals with or without periodontitis and with or without OSA were obtained from a previous study. Demographic data, clinical oral characteristics, and genera and species of cultivable cryptic oral microorganisms identified by MALDI-TOF were recorded. The data from 75 participants were analyzed to determine the relative frequencies of cultivable cryptic microorganisms’ genera and species, and microbial clusters and correlations tests were performed. According to periodontal condition, dental-biofilm-induced gingivitis in reduced periodontium and stage III periodontitis were found to have the highest diversity of cryptic microorganism species. Based on the experimental condition, these findings showed that there are genera related to disease conditions and others related to healthy conditions, with species that could be related to different chronic diseases being highlighted as periodontitis and OSA comorbidities. The cryptic microorganisms within the oral microbiota of patients with periodontitis and OSA are present as potential pathogens, promoting the development of dysbiotic microbiota and the occurrence of chronic diseases, which have been previously proposed to be common risk factors for periodontitis and OSA. Understanding the function of possible pathogens in the oral microbiota will require more research.

AlthoughCandidaspp., is a common cause of bloodstream infections and is often associated with high mortality rates, its resistance to antifungal drugs, and the molecular mechanisms involved have been poorly studied in Colombia. Here, 123 bloodstream isolates ofCandidaspp. were collected. MALDI-TOF MS identification and fluconazole (FLC) susceptibility patterns were assessed on all isolates. Subsequently, sequencing ofERG11, TAC1orMRR1, and efflux pumps were performed for resistant isolates. Out of 123 clinical strains,C. albicansaccounted for 37.4%, followed byC. tropicalis26.8%,C. parapsilosis19.5%,C. auris8.1%,C. glabrata4.1%,C. krusei2.4% andC. lusitaniae1.6%. Resistance to FLC reached 18%. Erg11 amino acid substitutions associated with FLC-resistance (Y132F, K143R or T220L) were found in 58% of 19 FLC-resistant isolates. Furthermore, novel mutations were found in all genes studied. Regarding efflux pumps, 42% of 19 FLC-resistantCandidaspp strains showed significant efflux activity. Finally, six of the 19 FLC-resistant isolates neither harbored resistance-associated mutations nor showed efflux pump activity. AlthoughC. albicansremain the most predominant species, non-C. albicansspecies comprise a high proportion (62.6%). Among FLC-resistant species,C. auris(70%) andC. parapsilosis(25%) displayed the highest percentages of resistance. In 68% of FLC-resistant isolates, a mechanism that could explain their phenotype was found (e.g. mutations, flux pump activity or both). We provide evidence that endemic isolates harbor amino acid substitutions related with resistance to one of the most used molecules in the hospital setting, with Y132F being the most frequently detected one.

Commonly the periodontitis has been linked to periodontopathogens categorized in Socransky's microbial complexes, however, there is a lack of knowledge regarding “other microorganisms” or "cryptic microorganisms", which are rarely thought of as significant oral pathogens and are neither previously categorized nor connected to illnesses in the oral cavity. This study hypothesized that these cryptic microorganisms could contribute to the modulation of oral microbiota present in health or disease (periodontitis and/or OSA patients). For this purpose, the presence and the correlation among these cultivable cryptic oral microorganisms were identified and their possible role in both conditions was determined. Data from oral samples of individuals with or without periodontitis and with or without OSA were obtained from a previous study. Demographic data, clinical oral characteristics, and genera and species of cultivable cryptic oral microorganisms identified by MALDI-TOF were recorded. The data of 75 participants were analyzed to determine the relative frequencies of cultivable cryptic microorganisms’ genus and species, microbial clusters and correlations tests were performed. According to periodontal condition, Gingivitis - dental biofilm-induced in reduced periodontium and stage III periodontitis were found to have the highest diversity of cryptic microorganism species. Based on the experimental condition these findings showed that there are genera related to disease conditions and others related to healthy conditions, with species that could be related to different chronic diseases being highlighted as comorbidities periodontitis and OSA. The cryptic microorganisms within the oral microbiota of patients with periodontitis and OSA are present as potential pathogens, promoting the development of dysbiotic microbiota, and the occurrence of chronic diseases, which have been previously proposed to be common risk factors for periodontitis and OSA. Understanding the function of possible pathogens in the oral microbiota will take more research.

People living with HIV/AIDS not only suffer in terms of physical and/or psychological health, but also frequently experience violations of human rights and fundamental freedoms. Although there are international treaties and a regulatory framework that legally protects people with HIV/AIDS, it is essential to determine the effectiveness of the regulatory framework in Colombia. Therefore, our main goal was to examine the legislation on HIV/AIDS in Colombia with the purpose of understanding the decrees and laws, and describing the main obstacles and barriers that people with HIV/AIDS encounter. For this purpose, we employed the method of legal interpretation and reviewed the legal regulations on HIV/AIDS, as well as the judgments of guardianship of the Constitutional Court. It is verified that there is a specific regulation on HIV/AIDS, specifically decree 559 of 19,991, decree 1543 of 1997, Law 599 of 2000, Law 972 of 2005, and Law 1220 of 2008. Although at the legislative level Colombia shows an evolution in the norm, patients with HIV/AIDS continue to be victims of human rights violations. As a result, and through the analysis of tutela judgments, it was found that the Constitutional Court recognized the violation of rights and ordered the necessary measures to be taken to guarantee the human rights and fundamental freedoms of the defendants.

Here, we present the complete chloroplast genomes of Quercus × morehus , Q. wislizeni , and Q. kelloggii from California. The genomes are 161,119 to 161,130 bp and encode 132 genes. Quercus × morehus and Q. wislizeni are identical in sequence but differ from Q. kelloggii by three indels and eight SNPs.

Aims: The aim of this study is to analyze the impact of 10 years of blended learning in echocardiography. Methods and results: A total of 140 of 210 medical doctors who graduated from our teaching program from 2011 to 2020 responded to the survey. Among them, 53,57% were anesthesiologists and 26,42% intensivists. More than 85% of respondents indicated that the online period met their expectations, and 70,2% that the hands on practice met the objectives. Posterior to the Diploma there was a significant increase in the frequency of use of echo compared to before the Diploma, both in transthoracic and transesophageal echocardiography, from 24,29% to 40,71% and from 13,57% to 27,86%, respectively. The echo was applied mainly in the perioperative period (56,7%) and in intensive care (32,3%), and only in 11% of cases it was used in emergency units. Additionally, 92,4% of respondents revealed that it was very useful in their subsequent professional practice and 92,47% that it helped them in the interpretation of echo reports. Among the strengths they highlighted ‘the theoretical content, clinical cases, hands on activity and the teaching staff’. Among the weaknesses, 50% requested a practice period lasting more than one week. Conclusion: The blended learning of echocardiography over a decade has been satisfactorily evaluated by the graduated specialists and has been related to a significant increase in its use in the perioperative period and in intensive care. The main challenges are to establish a longer period of practice and achieve greater scope in Emergency Medicine.

Hydroxytyrosol (HT), the main representative of polyphenols of olive oil, has been described as one of the most powerful natural antioxidants, also showing anti-inflammatory, antimicrobial, cardioprotective and anticancer activity in different type of cancers, but has been little studied in hematological neoplasms. The objective of this work was to evaluate the anticancer potential of HT in acute human leukemia T cells (Jurkat and HL60) and the anti-inflammatory potential in murine macrophages (Raw264.7). For this, cytotoxicity tests were performed for HT, showing IC

The expansion of Integrated Pest Management (IPM), including biological control, has had several positive consequences for the agricultural environment and participants in the production chain. To enable successful operation and applications of biological control, production of insects used for rearing natural enemies (parasitoids and predators) must be optimized to reduce time and costs and improve production both qualitatively and quantitatively. The present study evaluated the effect of wheat varieties, the main component of artificial diets for Ephestia kuehniella, on the reproductive performance and biological parameters of this flour moth, which is used for mass production of Trichogramma spp. (Hymenoptera: Trichogrammatidae) and other parasitoids and predators. Four varieties of wheat were compared: BRS 327, BRS Marcante, BRS Parrudo, and KBR, with and without the addition of corn E. kuehniella reared on 97% BRS 327 wheat flour + 3% nutritional yeast had the best biological parameters and substitution of corn for about half of the wheat increased the number of eggs per female.