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Dogs with chronic kidney disease (CKD) may have alterations in the glomerular filtration barrier, including podocyte loss. Detection of podocyte mRNA in urine could be useful for assessing podocyturia in dogs with kidney disease. The objective of this study was to evaluate the presence of nephrin mRNA (NPHS1) and podocin mRNA (NPHS2) in urine sediments of dogs with naturally occurring CKD and healthy dogs.

Malt bagasse is a by-product of the brewing industry that has high moisture, making it very unstable and susceptible to fast microbial deterioration. This work evaluated drying kinetic models of malt bagasse during pneumatic transport with air flow at 30, 45 and 60°C and layouts of 4.5 and 7.0 m. The results showed that the decrease of moisture from malt bagasse was favored at higher air temperature due to the higher diffusion coefficient. In the ranges measured, the values of the effective moisture diffusivity and heat transfer coefficient were obtained between 2.05×10−10 to 12.74×10−10 m2/s and 175 to 363 W/(m2 K), respectively. Average energy for liquid diffusion in the malt bagasse drying process was 44.30 kJ/mol. Pneumatic transport with air flow at 60°C and layout of 7.0 m reached rapidly the final moisture of 12% (w.b.), which may reduce transport costs and allow for long periods of stable storage for malt bagasse. The statistical tests results showed that the experimental data presented excellent fit using the modified Henderson-Pabis model, in the temperature range for both layouts.

Objetivo: Na década de 1910 São Paulo, Brasil, passou por sucessivas transformações urbanísticas e sociais, as quais impactaram na história da saúde como as influenciadas pelo medo de epidemias que assolavam a cidade e matavam pessoas sem distinção de gênero, raça ou classe. O estudo objetiva uma análise deste contexto histórico a partir da história de uma sobrevivente, Esther de Figueiredo. Método e Fontes: Os indícios históricos analisados, referentes a um conjunto de correspondências datadas de 1905 a 1919, escritas por um homem comum para sua futura esposa, permitem indagar sobre as doenças e os medos sociais, bem como analisar as representações da tuberculose a partir da história de uma sobrevivente. Resultados: Os resultados transcendem a trajetória pessoal e possibilitam acessar aspectos inerentes à cultura dos cuidados em um contexto de institucionalização da saúde pública paulistana. Conclusões: A tuberculose foi uma dessas doenças que mobilizou a ciência médica a procurar meios de tratamento e cura.

Analyze the level of consciousness by means of the Aldrete-Kroulik scale associated with the use of oxygen therapy at the Post-Anesthesia Care Unit (PACU). It is a prospective and comparative study, with quantitative analysis. It was conducted in a big Federal Public Hospital, located in Belo Horizonte city. The sample was consisted of 60 subjects, separated between groups using and do not using oxygen therapy, aged between 18 and 64 years old, submitted to elective surgery, surgical site in upper torso, under general anesthesia, and with the American Society Anesthesiologists (ASA) status I or II. The most part of the patients were female, with 50 years old or older, classified as ASA II, under total intravenous anesthesia, and length of time of anesthesia over 240 minutes. In the analysis of the level of consciousness related to the use of oxygen therapy, it is noteworthy that the p-value (0.069) is significant at the 15 minutes of permanence in the PACU. A large number of patients from the group that received supplemental oxygen therapy showed improvement in the level of consciousness at the 15 minutes of permanence in the PACU. Team work is necessary to prevent patient's complications in anesthetic recovery period.

This study investigates COVID-19 outcomes and immune response in chronic myeloid leukemia (CML) patients post-SARS-CoV-2 vaccination, comparing effectiveness of various vaccine options. Data from 118 CML patients (85 in Brazil, 33 in the US) showed similar infection rates prior (14% Brazil, 9.1% US) and post-vaccination (24.7% vs. 27.3%, respectively). In Brazil, AstraZeneca and CoronaVac were the most commonly used vaccine brands, while in the US, Moderna and Pfizer-BioNTech vaccines dominated. Despite lower seroconversion in the Brazilian cohort, all five vaccine brands analyzed prevented severe COVID-19. Patients who received mRNA and recombinant viral vector vaccines (HR: 2.20; 95%CI 1.07-4.51; p  < .031) and those that had achieved at least major molecular response (HR: 1.51; 95% CI 1.01-3.31; p  < .0001) showed higher seroconversion rates. Our findings suggest that CML patients can generate antibody responses regardless of the vaccine brand, thereby mitigating severe COVID-19. This effect is more pronounced in patients with well-controlled disease.

Background and Aims: To investigate associations between Single Nucleotide Polymorphisms (SNPs) in the TAS1R and TAS2R taste receptors and diet quality, intake of alcohol, added sugar, and fat, using linear regression and machine learning techniques in a highly admixed population., Methods: In the ISA-Capital health survey, 901 individuals were interviewed and had socioeconomic, demographic, health characteristics, along with dietary information obtained through two 24-h recalls. Data on 12 components related to food groups, nutrients, and calories was combined into a diet quality score (BHEI-R). BHEI-R, SoFAAs (calories from added sugar, saturated fat, and alcohol) and Alcohol use were tested for associations with 255 TAS2R SNPs and 73 TAS1R SNPs for 637 individuals with regression analysis and Random Forest. Significant SNPs were combined into Genetic taste scores (GTSs)., Results: Among 23 SNPs significantly associated either by stepwise linear/logistic regression or random forest with any possible biological functionality, the missense variants rs149217752 in TAS2R40, for SoFAAs, and rs2233997 in TAS2R4, were associated with both BHEI-R (under 4% increase in Mean Squared Error) and SoFAAs. GTSs increased the variance explanation of quantitative phenotypes and there was a moderately high AUC for alcohol use., Conclusions: The study provides insights into the genetic basis of human taste perception through the identification of missense variants in the TAS2R gene family. These findings may contribute to future strategies in precision nutrition aimed at improving food quality by reducing added sugar, saturated fat, and alcohol intake., Competing Interests: Declaration of competing interest None., (Copyright © 2024 European Society for Clinical Nutrition and Metabolism. Published by Elsevier Ltd. All rights reserved.)

Epidemiological studies frequently classify groups based on phenotypes like self-reported skin color/race, which inaccurately represent genetic ancestry and may lead to misclassification, particularly among individuals of multiracial backgrounds. This study aimed to characterize both global and local genome-wide genetic ancestries and to assess their relationship with self-reported skin color/race in an admixed population of Sao Paulo city. We analyzed 226,346 single-nucleotide polymorphisms from 841 individuals participating in the population-based ISA-Nutrition study. Our findings confirmed the admixed nature of the population, demonstrating substantial European, significant Sub-Saharan African, and minor Native American ancestries, irrespective of skin color. A correlation was observed between global genetic ancestry and self-reported color-race, which was more evident in the extreme proportions of African and European ancestries. Individuals with higher African ancestry tended to identify as Black, those with higher European ancestry tended to identify as White, and individuals with higher Native American ancestry were more likely to self-identify as Mixed, a group with diverse ancestral compositions. However, at the individual level, this correlation was notably weak, and no deviations were observed for specific regions throughout the individual's genome. Our findings emphasize the significance of accurately defining and thoroughly analyzing race and ancestry, especially within admixed populations.

Competing Interests: Conflicts of interest None.

Hyalohyphomycosis and phaeohyphomycosis are groups of mycoses caused by several agents and show different clinical manifestations. We report a case of an immunocompromised patient who presented rare manifestations of opportunistic mycoses: mycetoma-like hyalohyphomycosis on his right foot caused by Colletotrichum gloeosporioides, followed by cutaneous phaeohyphomycosis on his right forearm caused by Exophiala oligosperma. Further to the rarity of this case, the patient's lesion on the foot shows that the clinical aspects of mycetomas could falsely appear in other fungal infections similar to hyalohyphomycosis. We also show that the muriform cells that were seen in the direct and anatomopathological examination of the skin are not pathognomonic of chromoblastomycosis, as observed in the lesion of the patient's forearm.

In this pilot study, we aimed to evaluate the feasibility of whole genome sequencing (WGS) as a first-tier diagnostic test for infants hospitalized in neonatal intensive care units in the Brazilian healthcare system. The cohort presented here results from a joint collaboration between private and public hospitals in Brazil considering the initiative of a clinical laboratory to provide timely diagnosis for critically ill infants. We performed trio (proband and parents) WGS in 21 infants suspected of a genetic disease with an urgent need for diagnosis to guide medical care. Overall, the primary indication for genetic testing was dysmorphic syndromes (n = 14, 67%) followed by inborn errors of metabolism (n = 6, 29%) and skeletal dysplasias (n = 1, 5%). The diagnostic yield in our cohort was 57% (12/21) based on cases that received a definitive or likely definitive diagnostic result from WGS analysis. A total of 16 pathogenic/likely pathogenic variants and 10 variants of unknown significance were detected, and in most cases inherited from an unaffected parent. In addition, the reported variants were of different types, but mainly missense (58%) and associated with autosomal diseases (19/26); only three were associated with X-linked diseases, detected in hemizygosity in the proband an inherited from an unaffected mother. Notably, we identified 10 novel variants, absent from public genomic databases, in our cohort. Considering the entire diagnostic process, the average turnaround time from enrollment to medical report in our study was 53 days. Our findings demonstrate the remarkable utility of WGS as a diagnostic tool, elevating the potential of transformative impact since it outperforms conventional genetic tests. Here, we address the main challenges associated with implementing WGS in the medical care system in Brazil, as well as discuss the potential benefits and limitations of WGS as a diagnostic tool in the neonatal care setting., (© 2024 Wiley Periodicals LLC.)

Introduction: Next generation sequencing technology has greatly reduced the cost and time required for sequencing a genome. An approach that is rapidly being adopted as an alternative method for CNV analysis is the low-pass whole genome sequencing (LP-WGS). Here, we evaluated the performance of LP-WGS to detect copy number variants (CNVs) in clinical cytogenetics., Materials and Methods: DNA samples with known CNVs detected by chromosomal microarray analyses (CMA) were selected for comparison and used as positive controls; our panel included 44 DNA samples (12 prenatal and 32 postnatal), comprising a total of 55 chromosome imbalances. The selected cases were chosen to provide a wide range of clinically relevant CNVs, the vast majority being associated with intellectual disability or recognizable syndromes. The chromosome imbalances ranged in size from 75 kb to 90.3 Mb, including aneuploidies and two cases of mosaicism., Results: All CNVs were successfully detected by LP-WGS, showing a high level of consistency and robust performance of the sequencing method. Notably, the size of chromosome imbalances detected by CMA and LP-WGS were compatible between the two different platforms, which indicates that the resolution and sensitivity of the LP-WGS approach are at least similar to those provided by CMA., Discussion: Our data show the potential use of LP-WGS to detect CNVs in clinical diagnosis and confirm the method as an alternative for chromosome imbalances detection. The diagnostic effectiveness and feasibility of LP-WGS, in this technical validation study, were evidenced by a clinically representative dataset of CNVs that allowed a systematic assessment of the detection power and the accuracy of the sequencing approach. Further, since the software used in this study is commercially available, the method can easily be tested and implemented in a routine diagnostic setting., (© 2023 University College London (UCL) and John Wiley & Sons Ltd.)

The interactions between tumor and immune cells along the course of breast cancer progression remain largely unknown. Here, we extensively characterize multiple sequential and parallel multiregion tumor and blood specimens of an index patient and a cohort of metastatic triple-negative breast cancers. We demonstrate that a continuous increase in tumor genomic heterogeneity and distinct molecular clocks correlated with resistance to treatment, eventually allowing tumors to escape from immune control. TCR repertoire loses diversity over time, leading to convergent evolution as breast cancer progresses. Although mixed populations of effector memory and cytotoxic single T cells coexist in the peripheral blood, defects in the antigen presentation machinery coupled with subdued T cell recruitment into metastases are observed, indicating a potent immune avoidance microenvironment not compatible with an effective antitumor response in lethal metastatic disease. Our results demonstrate that the immune responses against cancer are not static, but rather follow dynamic processes that match cancer genomic progression, illustrating the complex nature of tumor and immune cell interactions., (© 2024. The Author(s).)

Objective: The aim of the study is to determine the prevalence and factors associated with olfactory dysfunction in individuals with COVID-19 in the first 2 years of the pandemic in Brazil., Materials and Methods: This is a prevalent study involving the confirmed cases of COVID-19 recorded in the municipality between the years 2020 and 2021. Individuals symptomatic for COVID-19, with a positive laboratory result and aged 12 or older were included in this study. Measures of central tendency and dispersion were used in the description of continuous variables and frequency was used for categorical variables. The Shapiro-Wilk test was used to evaluate data distribution., Results: Data from 20,669 individuals were analyzed. The prevalence of olfactory disorders was 17.9% and increased from 11.5% to 21.9% between 2020 and 2021. A female gender predominance was observed among individuals who reported anosmia, with 61.1% (n = 564) in 2020 and 61.7% (n = 1,713) in 2021. On the other hand, the median age of individuals with olfactory disorders was lower than that of the group without disorders (35 [IQR 27-46] vs. 39 [IQR 29-50]; p &lt; 0.001). Smell disturbances were present in 18.2% (n = 3,634) of patients who recovered and in 7.1% (n = 38) of those who died. Furthermore, in 2021, a prevalence rate of 30.6% for olfactory disorders was linked to obesity as a comorbidity., Conclusion: The prevalence of olfactory disorders was lower compared to other studies, with cough and fever being negatively related to olfactory dysfunction and headache, coryza, and taste disorders being positively related. Obesity was the only associated comorbidity., (© 2024 The Author(s). Published by S. Karger AG, Basel.)

Diffuse large B-cell lymphoma (DLBCL) is the most common lymphoma subtype and dependent on angiogenesis (AG), whose main effectors are VEGFA and VEGFR2. Functional single nucleotide variants (SNVs) are described in VEGFA and KDR genes. However, it still unknown whether VEGFA  - 2578C/A, -2489C/T, -1154G/A, -634G/C, -460C/T and KDR -604T/C, -271G/A, +1192G/A and +1719A/T SNVs act on DLBCL risk and angiogenic features. Genomic DNA from 168 DLBCL patients and 205 controls was used for SNV genotyping. Angiogenesis was immunohistochemically assessed in tumor biopsies, with reactions for VEGFA, VEGFR2, and CD34. VEGFA -1154GG genotype were associated with 1.6-fold higher DLBCL risk. KDR  + 1192GG plus KDR  + 1719 TT and KDR  + 1192GG plus VEGFA  - 2578CC combined genotypes are associated with 2.19- and 2.04-fold higher risks of DLBCL, respectively. VEGFA  - 634GG or GC genotypes are associated with increased microvessel density and VEGFA levels. No relationship was observed between SNVs and cell-of-origin classification of DLBCL, but higher VEGFA and VEGFR2 were seen in non-germinal center tumors.