Diagnóstico de tuberculosis en pediatría / Diagnosis of tuberculosis in pediatrics

La tuberculosis sigue siendo una epidemia mundial y en Chile no ha mostrado una tendencia descendente en los últimos años, con un aumento en los casos infantiles. En los niños, el diagnóstico es un reto debido a la baja carga bacilar y las características de las lesiones, que suelen ser cerradas. Métodos tradicionales como los cultivos, considerados anteriormente como el gold standard, con frecuencia arrojan resultados negativos. Sin embargo, los avances en pruebas moleculares han permitido un progreso significativo en la confirmación bacteriológica. Otras herramientas diagnósticas, como la prueba de tuberculina (PPD) y los ensayos de liberación de interferón gamma (IGRAs), tienen sensibilidades y especificidades variables, siendo útiles como pruebas complementarias. Las imágenes juegan un papel clave en la evaluación diagnóstica de tuberculosis pulmonar y extrapulmonar en pacientes pediátricos. Esta revisión aborda la epidemiología y el proceso diagnóstico de la tuberculosis infantil.

Tuberculosis remains a global epidemic, and in Chile, it has not shown a downward trend in recent years, with an increase in pediatric cases. Diagnosing tuberculosis in children presents challenges due to the low bacillary load and the closed nature of the lesions. Traditional methods like cultures, once considered the gold standard, often yield negative results. However, advances in molecular testing have significantly improved bacteriological confirmation. Other diagnostic tools, such as the tuberculin skin test (PPD) and interferon-gamma release assays (IGRAs), offer variable sensitivities and specificities and are useful as complementary tests. Imaging plays a critical role in the diagnostic evaluation of pulmonary and extrapulmonary tuberculosis in pediatric patients. This review addresses the epidemiology and diagnostic process of pediatric tuberculosis.

Changes in Skin Test Aeroallergen Sensitization in Mexico Over the Past 14 Years and According to Climate.

Introduction: Aeroallergen exposure has an intra- and extra-domiciliary component and varies according to climatological zones. Mexico is a large country with a great variety of climates. A previous study (2009) evaluated skin prick test results (SPT) in different regions. In this study, we compare previous sensitization patterns from 14y ago with current ones and compare them between different climatological zones. Methods: Mexican allergists were asked to share their last 100 SPT results in patients with respiratory allergy. Clinics were grouped in (semi)humid vs (semi)dry zones. Results were analyzed nationwide and compared to the 2009 results, calculating odds ratio (OR) and 95% confidence intervals (95% CIs), with p <0.05 as cut-off. Similarly, we compared (semi)humid versus dry zones. Results: We collected 2915 SPT results from 28 clinics (19 cities). Dermatophagoides was the most frequently sensitizing allergen. There was a significant increase in SPT positivity from 2009 to 2023 in both in- and outdoor aeroallergens (OR 1.26-2.65, 95% CI from 1.06-1.50 to 1.99-3.52). Comparing dry-humid zones, sensitization to pollen from Oleaceae, Fagaceae (p < 0.0001 all) and most weeds is more frequent in humid zones, as are Dermatophagoides and cockroach (both p < 0.0001). Eucalyptus, mesquite, and all grass pollen sensitizations predominate in dry zones (p < 0.05-0.0001). There are no differences in sensitization to cat or dog between zones. Conclusion: We found a general increase in SPT sensitization over the past fourteen years, suggesting that this is probably not only due to climate change. The different sensitization profile throughout the country was mainly related to humidity. Repeating epidemiologic SPT studies over the years could help tracking changes in allergen sensitization over time.

Analytical performance of publicly dispensed glucometers in primary health care in a southern Brazilian city.

Aims: This study aimed to assess the use of glucometers by patients and the analytical performance of glucometers provided by the primary care services. Methods: The analytical performance of 48 glucometers Accu-Chek® Active, was assessed through quintuplicate analyses of one Roche and one PNCQ (National Quality Control Program) control sample at different concentrations; 31 were also evaluated by a single proficiency testing sample. The evaluation metrics included imprecision, bias, and total error and were measured according to quality specifications based on biological variation (QSBV). Glucometer users answered a questionnaire regarding their experience. Results: Among the 48 glucometers evaluated with internal control samples, 17 met precision criteria at both control levels according to QSBV, while 24 met the criteria at only one control level. Of the 31 glucometers further evaluated through proficiency test, 11 met accuracy criteria according to QSBV, and only one device showed an unacceptable result. Out of these 31, only 15 demonstrated a total error within the acceptable maximum limits based on QSBV. Conclusions: Overall, our findings showed that patients had a good understanding of glucometer usage and suggested that some glucometers should be replaced, as they sometimes failed to meet even the manufacturer's acceptable variation limits, and/or did not meet QSBV.

Early Candida colonisation impact on patients and healthcare professionals in an intensive care unit.

OBJECTIVES: Candida spp. is an opportunistic pathogen that causes superficial and invasive infections with nosocomial outbreaks without strict hygiene protocols. Herein, we assessed oral colonisation by Candida spp. in 209 Intensive Care Unit (ICU) patients between July 2021 and April 2022, conducting clinical, epidemiological, and microbiological characterisation of those developing oral or invasive candidiasis. METHODS: Initial oral swabs were collected within 24 h of admission in the ICU, followed by collections on Days 2, 4, 6 and 8. Swabs from denture-wearing patients, abiotic surfaces, healthcare professionals' hands, and retroauricular regions were also obtained. Recovered yeasts and filamentous fungi were identified using MALDI-TOF MS and morphological characteristics, respectively. Genetic similarity of Candida spp. isolates was evaluated using Amplified fragment length polymorphism (AFLP), and the antifungal susceptibility profile was determined by broth microdilution. RESULTS: In the study, 64.11% of patients were orally colonised by Candida spp. Of these, 80.59% were colonised within the first 24 h. Oral colonisation also occurred on subsequent days: 50%/Day 2, 26.92%/Day 4, and 11.53%/Days 6 and 8. Of the patients, 8.61% had oral candidiasis, mainly pseudomembranous. Among orally colonised patients, 2.23% developed invasive candidiasis. Besides, 89.47% of healthcare professionals evaluated were colonised. MALDI-TOF MS identified different yeast species, and C. albicans (45.34%), C. tropicalis (15.7%), and C. parapsilosis sensu stricto (9.88%) were the most prevalent. AFLP analysis indicated a high genetic correlation (≥97%) between C. parapsilosis sensu stricto isolates from patients and professionals. Three resistant C. albicans isolates were also found. CONCLUSION: This study reported a diversity of yeast and filamentous fungi species in ICU patients and highlighted early Candida spp. colonisation risks for invasive candidiasis, as well as the potential horizontal transmission in the nosocomial setting, emphasising the need for effective infection control measures.

Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk.

Lynch syndrome (LS) is the most frequent cancer predisposition syndrome affecting the colon and rectum. A pathogenic variant (PV) disrupting one of the mismatch repair (MMR) genes is responsible for the disease. The spectrum of tumors in LS is heterogeneous and includes cancer of the colon and rectum (CRC), endometrium, ovaries, stomach, small bowel, urinary tract, bladder, pancreas, and skin. Knowledge of the phenotypic variation of patients with LS, the type and frequency of PVs, and cascade testing studies in the Latin American population is limited. The present study aims to recognize the PVs in MMR genes, describe the phenotype in Mexican-Mestizo patients and their relatives, and identify the acceptance rate of cascade testing of relatives at risk. We included 40 carriers of a MMR gene PV and 142 relatives that developed a LS-related neoplasm. Patients' clinical data, number, and type of malignancies were obtained from their medical records. Amsterdam I-II, Bethesda criteria, and PREMM5® predictive model score were estimated. Available immunohistochemistry (IHC) reports were analyzed. Relatives at risk were determined from index cases pedigrees. The distribution of MMR gene mutations among 40 probands was: MLH1 (67.5 %), MSH2 (22.5 %), MSH6 (7.5 %), and PMS2 (2.5 %). Out of the 182 LS cases, 58 % exhibited the LS phenotype before age 50. The most common tumor was CRC, followed by endometrial cancer in women and gastric cancer in males. We found a 90.0 % concordance between the IHC and germline PV. The most frequent PV in our sample was MLH1 c.676C > T, occurring in 1/6 index cases. All probands disclosed their molecular test result to their family. Out of the 451 asymptomatic relatives at risk, 28.2 % underwent germline testing. Our results highlight the importance of conducting germline genetic studies in LS since it allows the establishment of appropriate cancer screening, risk-reducing measures, and genetic cascade testing among relatives at risk. Interestingly, we observed a significantly higher prevalence of the c.676C > T variant in MLH1, probably a singular characteristic of the Mexican-Mestizo population. New strategies to facilitate accurate communication between index cases and relatives should be implemented to improve the cascade testing acceptance rate.

In vitro and In vivo Activity of a New N-Oxide Derivative for Acne Vulgaris Treatment.

INTRODUCTION: Furoxan and benzofuroxan are compounds containing an N-oxide function, known for their diverse pharmacological properties, including antimicrobial and antiinflammatory effects. This study aimed to investigate these activities using an in-house library of N-oxide compounds. METHOD: Twenty compounds were tested against both Gram-positive and Gram-negative bacteria, including Cutibacterium acnes (C. acnes), a microorganism implicated in the development of acne vulgaris. One compound, (E)-4-(3-((2-(3-hydroxybenzoyl)hydrazone)methyl)phenoxy)-3- (phenylsulfonyl)-1,2,5-oxadiazol-2-N-oxide (compound 15), exhibited selective antimicrobial activity against C. acnes, with a Minimum Inhibitory Concentration (MIC) value of 2 µg/mL. Indirect measurement of Nitric Oxide (NO) release showed that compound 15 and isosorbide dinitrate, when treated with L-cysteine, produced nitrite levels of 20.1% and 9.95%, respectively. Using a NO scavenger (PTIO) in combination with compound 15 in a culture of C. acnes resulted in reduced antimicrobial activity, indicating that NO release is part of its mechanism of action. Cytotoxicity assessments using murine macrophages showed cellular viability above 70% at concentrations up to 0.78 µg/mL. RESULTS: Measurements of Interleukin-1 beta (IL1-ß) and Tumor Necrosis Factor-alpha (TNF-α) indicated that compound 15 did not reduce the levels of these pro-inflammatory cytokines. Sustained NO production by inducible Nitric Oxide Synthase (iNOS) in macrophages or neutrophils has been found to be involved in the inflammatory process in acne vulgaris and lead to toxicity in surrounding tissues. Nitrite levels in the supernatant of murine macrophages were found to be decreased at a concentration of 0.78 µg/mL of compound 15, indicating an anti-inflammatory effect. In vivo studies were conducted using Balb/c nude mice inoculated subcutaneously with C. acnes. Cream and gel formulations of compound 15 were applied to treat the animals, along with commercially available anti-acne drugs, for 14 days. Animals treated with a cream base containing 5% of compound 15 exhibited less acanthosis with mild inflammatory infiltration compared to other groups, highlighting its anti-inflammatory properties. CONCLUSION: Similar results were observed in the benzoyl peroxide group, demonstrating that compound 15 presented comparable anti-inflammatory activity to the FDA-approved drug. These promising results suggest that compound 15 has a dual mechanism of action, with selective antimicrobial activity against C. acnes and notable anti-inflammatory properties, making it a potential prototype for developing new treatments for acne vulgaris.

Cost-consequence analysis of a combined COVID-19/influenza rapid diagnostic test in the Brazilian private healthcare setting.

Combination COVID-19/influenza rapid tests provide a way to quickly and accurately differentiate between the two infections. The goal of this economic evaluation was to assess the cost and health benefits of a combination COVID-19/influenza Rapid Diagnostic Test (RDT) vs. current standard-of-care in the Brazilian private healthcare setting. A dual decision tree model was developed to estimate the impact of rapid differentiation of COVID-19 and influenza in a hypothetical cohort of 1,000 adults with influenza-like illness in an ambulatory healthcare setting. The model compared the use of a combination COVID-19/influenza RDT to Brazil standard diagnostic practice of a COVID-19 RDT and presumptive influenza diagnosis. Different levels of influenza prevalence were modeled with co-infection estimated as a function of the COVID-19 prevalence. Outcomes included accuracy of diagnosis, antiviral prescriptions and healthcare resource use (hospital bed days and ICU occupancy). Depending on influenza prevalence, considering 1,000 patients with influenza-like illness, a combination RDT compared to standard practice was estimated to result in between 88 and 149 fewer missed diagnoses of influenza (including co-infection), 161 to 185 fewer cases of over-diagnosis of influenza; a 24 to 34% reduction in hospital bed days and a 16 to 26% reduction in ICU days. In the base case scenario (20% influenza, 5% COVID-19), the combination RDT was estimated to result in cohort cost savings of $99. Based upon a de novo economic model, this analysis indicates that use of a combination RDT could positively impact influenza antiviral prescriptions and lower healthcare resource use.

Validation of DOE Factorial/Taguchi/Surface Response Models of Mechanical Properties of Synthetic and Natural Fiber Reinforced Epoxy Matrix Hybrid Material.

A validation of the factorial, Taguchi and response surface methodology (RSM) statistical models is developed for the analysis of mechanical tests of hybrid materials, with an epoxy matrix reinforced with natural Chambira fiber and synthetic fibers of glass, carbon and Kevlar. These materials present variability in their properties, so for the validation of the models a research methodology with a quantitative approach based on the statistical process of the design of experiments (DOE) was adopted; for which the sampling is in relation to the design matrix using 90 treatments with three replicates for each of the study variables. The analysis of the models reveals that the greatest pressure is obtained by considering only the source elements that are significant; this is reflected in the increase in the coefficient of determination and in the predictive capacity. The modified factorial model is best suited for the research, since it has an R2 higher than 90% in almost all the evaluated mechanical properties of the material; with respect to the combined optimization of the variables, the model showed an overall contribution of 99.73% and global desirability of 0.7537. These results highlight the effectiveness of the modified factorial model in the analysis of hybrid materials.

A Survey on Error Exponents in Distributed Hypothesis Testing: Connections with Information Theory, Interpretations, and Applications.

A central challenge in hypothesis testing (HT) lies in determining the optimal balance between Type I (false positive) and Type II (non-detection or false negative) error probabilities. Analyzing these errors' exponential rate of convergence, known as error exponents, provides crucial insights into system performance. Error exponents offer a lens through which we can understand how operational restrictions, such as resource constraints and impairments in communications, affect the accuracy of distributed inference in networked systems. This survey presents a comprehensive review of key results in HT, from the foundational Stein's Lemma to recent advancements in distributed HT, all unified through the framework of error exponents. We explore asymptotic and non-asymptotic results, highlighting their implications for designing robust and efficient networked systems, such as event detection through lossy wireless sensor monitoring networks, collective perception-based object detection in vehicular environments, and clock synchronization in distributed environments, among others. We show that understanding the role of error exponents provides a valuable tool for optimizing decision-making and improving the reliability of networked systems.

Detraining's Effects on Cardiorespiratory Fitness and Maximal and Explosive Strength in Army Soldiers: Does Age Matter?

PURPOSE: This study investigated the impact of four weeks of age-dependent detraining on army soldiers' cardiorespiratory fitness and maximal and explosive strength. METHODS: Fourteen volunteer tactical athletes participated, divided into two age groups (20 to 29 and 30 to 40 years). Before and after the detraining period, we assessed their anthropometric measurements (weight, height, body mass index, fat mass, and fat-free mass), cardiorespiratory fitness (maximal oxygen uptake [VO2max] and ventilatory thresholds [VT1 and VT2]), and kinematic properties during a single-leg counter-moving jump (CMJ) test for both the dominant and non-dominant legs. Two-way ANOVA followed by the Holm-Sidak post hoc test was used. RESULTS: The anthropometric and cardiovascular variables did not show significant differences between the groups. However, both groups exhibited a significantly reduced maximum time and speed at the VO2max. Furthermore, the flight time and maximum height during the CMJ significantly decreased in the non-dominant leg for both age groups. Notably, the dominant leg's concentric impulse (CI) significantly reduced during the CMJ, but this effect was observed only in the 30-40 age group. There were significant differences between the two age groups. CONCLUSIONS: Our findings suggest that four weeks of detraining negatively impacts aerobic fitness and muscular strength, independently of age. However, the dominant leg may be more susceptible to detraining effects in army soldiers aged 30-40. Furthermore, as a perspective, our results strongly suggest that a detraining period could affect successful missions (aerobic performance deterioration), as well as promote a muscle imbalance between the legs, which could encourage muscle injuries and endanger combat missions.

Genetic cholestasis: classification according to the cellular defect. / Colestasis genéticas: clasificación según el defecto celular.

Advances in molecular biology achieved during the last years have allowed us to know the genes involved in biliary secretion and the mutations capable of generating cholestasis. The mechanisms involved in forming bile and its circulation have been clarified. According to the biology of biliary secretion, we classify the genetic causes of cholestasis as follows: 1) transport abnormalities in canalicular or basolateral membranes, 2) alterations in intracellular vesicle transit, 3) increased paracellular permeability, 4) mutations in nuclear receptors, 5) cholangiopathies, and 6) hepatocellular diseases, due to disturbance of the function of intracellular organelles or errors of metabolism. This physiopathological classification of chronic cholestasis in childhood will facilitate pediatricians' diagnostic guidance and timely specialized referrals, as patients should receive early and appropriate treatment for its complications.

Los avances en biología molecular alcanzados durante los últimos años nos han permitido conocer los genes que intervienen en la secreción biliar y las mutaciones capaces de generar un cuadro de colestasis. Los mecanismos involucrados en la formación de la bilis y su circulación han sido precisados. De acuerdo a la biología de la secreción biliar, clasificamos las causas genéticas de colestasis en 1) anomalías del transporte en las membranas canalicular o basolateral, 2) alteraciones del tránsito de vesículas intracelulares, 3) aumento de la permeabilidad paracelular, 4) mutaciones en los receptores nucleares, 5) colangiopatías, 6) enfermedades hepatocelulares, por perturbación de la función de orgánulos intracelulares o errores del metabolismo. Esta clasificación fisiopatológica de las colestasis crónicas de la infancia facilitará la orientación diagnóstica de los pediatras y la derivación especializada oportuna, ya que los pacientes deben recibir tempranamente un tratamiento adecuado a las complicaciones de la colestasis.

Guidelines of the Brazilian Society of Surgical Oncology for anatomopathological, immunohistochemical, and molecular testing in female tumors.

INTRODUCTION: Precision medicine has revolutionized oncology, providing more personalized diagnosis, treatment, and monitoring for patients with cancer. In the context of female-specific tumors, such as breast, ovarian, endometrial, and cervical cancer, proper tissue collection and handling are essential for obtaining tissue, immunohistochemical (IHC), and molecular data to guide therapeutic decisions. OBJECTIVES: To establish guidelines for the collection and handling of tumor tissue, to enhance the quality of samples for histopathological, IHC, genomic, and molecular analyses. These guidelines are fundamental in informing therapeutic decisions in cancer treatment. METHOD: The guidelines were developed by a multidisciplinary panel of renowned specialists between June 12, 2013 and February 12, 2024. Initially, the panel deliberated on critical and controversial topics related to conducting precision medicine studies focusing on female tumors. Subsequently, 22 pivotal topics were identified within the framework and assigned to groups. These groups reviewed relevant literature and drafted preliminary recommendations. Following this, the recommendations were reviewed by the coordinators and received unanimous approval. Finally, the groups made the final adjustments, classified the level of evidence, and ranked the recommendations. CONCLUSION: The collection of surgical samples requires minimum quality standards to enable histopathological, IHC, genomic, and molecular analyses. These analyses provide crucial data for informing therapeutic decisions, significantly impacting potential survival gains for patients with female tumors.

Patch Test Results with the Latin American Baseline Series in a Colombian Population. 2016-2021.

Background: Contact dermatitis (CD) is one of the most prevalent skin diseases. It is commonly divided into irritant contact dermatitis (ICD) and allergic contact dermatitis (ACD). Patch testing is a procedure used to support the diagnosis of ACD. This test should be interpreted along with the clinical history and morphology of the skin lesions to determine clinical relevance. Objective: To describe the sensitization patterns of patients undergoing patch testing with the Latin American baseline series. Methods: A single-center retrospective study was performed. For the study, patients older than 18 years with a clinical diagnosis of contact dermatitis, who underwent patch testing using the Latin American baseline series were considered. These tests took place at the Alma Mater Hospital of Antioquia between January 1, 2016, and December 31, 2021. Results: A total of 648 patients were included. Patch tests were positive in 63% of cases, with a mean age of 51.5 years. Around 36.6% had atopy-related diseases. The main occupation was housework (30.7%). The hands were the most affected area in the body (31%). The main allergens were nickel sulfate (34%), sodium tetrachloropalladate (24.2%), and thimerosal (8.0%). Fifteen allergens had a percentage below 1%. Hydrocortisone and budesonide did not yield positive results. Conclusion: Nickel sulfate was the most frequent allergen, and women were the most affected. The information gathered could be useful for adjusting the allergens that should be included in the regional baseline series, taking into account the frequency found.

Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.

Hypertriglyceridemia (HTG) is a common dyslipidemia associated with an increased risk of cardiovascular disease and pancreatitis. It is well stablished that the severe cases of disease often present with an underlying genetic cause. In this study, we determined the frequency and variation spectrum of genes involved in the triglyceride metabolism in a series of Brazilian patients with severe HTG. A total of 212 patients with very high HTG, defined with fasting triglycerides (TG) ≥ 880 mg/ dL, that underwent a multi-gene panel testing were included in this research. Germline deleterious variants (i.e. Pathogenic/Likely Pathogenic (P/LP) variants) were identified in 28 out of 212 patients, reflecting an overall diagnostic yield of 13% in our cohort. Variants of unknown significance (VUS) were identified in 87 patients, and represent 80% of detected variants in this dataset. We confirm the LPL as the most frequently mutated gene in patients with severe HTG, and we had only one suspected case of familial chylomicronemia syndrome, caused by a homozygous variant in LMF1, in our cohort. Notably, we report 16 distinct and novel variants (P/LP and VUS), each of them representing a single case, not previously reported in any public databases or other studies. Our data expand our knowledge of genetic variation spectrum in patients with severe HTG in the Brazilian population, often underrepresented in public genomic databases, being also a valuable clinical resource for genetic counseling and healthcare programs in the country.

Evaluation of Multiple RNA Extraction Protocols for Chikungunya Virus Screening in Aedes aegypti Mosquitoes.

Chikungunya virus (Togaviridae, Alphavirus; CHIKV) is a mosquito-borne global health threat. The main urban vector of CHIKV is the Aedes aegypti mosquito, which is found throughout Brazil. Therefore, it is important to carry out laboratory tests to assist in the virus's diagnosis and surveillance. Most molecular biology methodologies use nucleic acid extraction as the first step and require quality RNA for their execution. In this context, four RNA extraction protocols were evaluated in Ae. aegypti experimentally infected with CHIKV. Six pools were tested in triplicates (n = 18), each containing 1, 5, 10, 20, 30, or 40 mosquitoes per pool (72 tests). Four commercial kits were compared: QIAamp®, Maxwell®, PureLink®, and PureLink® with TRIzol®. The QIAamp® and PureLink® with TRIzol® kits had greater sensitivity. Two negative correlations were observed: as the number of mosquitoes per pool increases, the Ct value decreases, with a higher viral load. Significant differences were found when comparing the purity and concentration of RNA. The QIAamp® protocol performed better when it came to lower Ct values and higher RNA purity and concentration. These results may provide help in CHIKV entomovirological surveillance planning.

Adaptación y validación del Voice Handicap Index y su versión abreviada al español rioplatense de Argentina

Objetivo: Este estudio tuvo como objetivo principal validar el Voice Handicap Index (VHI) y su versión abreviada (VHI-10) adaptados al español rioplatense de Argentina, con objetivos específicos centrados en evaluar su fiabilidad y validez. Metodología: La adaptación cultural incluyó técnicas de traducción directa, síntesis y retrotraducción, evaluación de la equivalencia semántica y aplicación a un grupo piloto. Para la validación se evaluó la fiabilidad de ambos índices adaptados mediante la consistencia interna (coeficiente alfa de Cronbach) y la estabilidad test-retest (prueba de Bland-Altman, CCI y r de Spearman). Además, se examinó la validez de criterio y de constructo. 213 sujetos participaron en la validación del índice adaptado de 30 ítems (123 disfónicos; 90 de control); 113, en la del índice abreviado (63 disfónicos; 50 de control). Resultados: Se constituyó el Índice de Desventaja Vocal (IDV) como la versión adaptada del VHI al español rioplatense de Argentina. Ambos índices demostraron excelente consistencia interna (IDV-30 α = 0,96; IDV-10 α = 0,92) y estabilidad y concordancia (IDV-30 CCI = 0,95; IDV-10 CCI = 0,96). Se halló alta correlación entre los puntajes de ambos índices y la autoevaluación de la severidad de la disfonía de los participantes (r = 0,85). Ambos índices demostraron capacidad de diferenciar entre individuos con disfonía y sujetos sanos (p< 0,001). El análisis factorial reveló tres factores para el IDV-30 y un factor para el IDV-10. Conclusiones: El IDV-30 e IDV-10 presentan grados adecuados de fiabilidad y validez. Ambos pueden ser incluidos en protocolos de valoración de la función vocal por profesionales de Argentina.

Aim: This study aimed to validate the Voice Handicap Index (VHI) and its abbreviated version (VHI-10) adapted into Rioplatense Spanish from Argentina, with specific goals centered on assessing their reliability and validity. Methods: Cultural adaptation involved direct translation, synthesis and back-translation techniques, followed by an assessment of semantic equivalence and application to a pilot group. For the validation process, the reliability of both adapted indices was assessed through measures of internal consistency (Cronbach's alpha coefficient) and test-retest stability (Bland-Altman test, ICC and Spearman's correlation coefficient). Additionally, we conducted analyses to asses criterion and construct validity. 213 subjects participated in the validation of the adapted 30-items index, (123 with dysphonia; 90 from control group); 113, in the abbreviated version (63 with dysphonia; 50 from control group). Results: The "Índice de Desventaja Vocal" (IDV) was established as the adapted version of the VHI into Rioplatense Spanish from Argentina. Both indeces exhibited excellent internal consistency (IDV-30 α = 0,96; IDV-10 α = 0,92) and satisfactory stability and agreement (IDV-30 CCI = 0,95; IDV-10 CCI = 0,96). Regarding validity, a strong correlation was observed between the scores of both indeces and the participant's self-assessment of dysphonia degree (r = 0,85). Both indices effectively differentiated between individuals with dysphonia and healthy subjects (p< 0,001). Factor analysis revealed three factors for the IDV-30 and one factor for the IDV-10. Conclusion: The IDV-30 and IDV-10 demonstrate satisfactory levels of reliability and validity. Both indices can be incorporated into the assessment protocols for evaluating the vocal function by professionals in Argentina.

Lipid Testing among Youth in Medicaid: The Role of Social Determinants of Health and Providers.

OBJECTIVE: To assess recent temporal trends in guideline-compliant pediatric lipid testing, and to examine the influence of social determinants of health (SDoH) and provider characteristics on the likelihood of testing in youth. STUDY DESIGN: In this observational, multiyear cross-sectional study, we calculated lipid testing prevalence by year among 268 627 12-year olds from 2015 through 2019 who were enrolled in Florida Medicaid and eligible for universal lipid screening during age 9 to 11, and 11 437 22-year olds (2017-2019) who were eligible for screening during age 17-21. We compared trends in testing prevalence by SDoH and health risk factors at two recommended ages and modeled the associations between patient characteristics and provider type on lipid testing using generalized estimating equations. RESULTS: Testing among 12-year olds remained low between 2015 through 2019 with the highest prevalence in 2015 (8.0%) and lowest in 2017 (6.7%). Screening compliance among 22-year olds was highest in 2017 (21.1%) and fell to 17.8% in 2019. Hispanics and non-Hispanic Blacks in both age groups had about 2%-3% lower testing prevalence than non-Hispanic Whites. Testing in 12-year olds was 12.3% vs 7.7% with and without obesity, and 14.4% vs 7.6% with and without antipsychotic use. Participants who saw providers who were more likely to prescribe lipid testing were more likely to receive testing (OR = 2.3, 95% CI 2.0-2.8, P < .001). CONCLUSIONS: Although lipid testing prevalence was greatest among high-risk children, overall prevalence of lipid testing in youth remains very low. Provider specialty and choices by individual providers play important roles in improving guideline-compliant pediatric lipid testing.

Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.

PURPOSE: To define the spectrum of germline pathogenic variants (PVs) and copy number variant (CNV) in cancer susceptibility genes to the burden of breast and ovarian cancer (BC, OvC) in high-risk Brazilians in Minas Gerais with health insurance, southeast Brazil, undergoing multigene panel testing (MGPT). METHODS: Genotyping eligible individuals with health insurance in the Brazilian healthcare system for Hereditary Breast and Ovarian Cancer Syndrome to undergo molecular testing for 44 or 141-gene panels, a decision that was insurance driven. RESULTS: Overall, 701 individuals clinically defined as high BC/OvC risk, underwent MGPT from 1/2021 to 10/2022, with ~ 50% genotyped with a 44-gene panel and the rest with a 141-gene panel. Overall, 16.4% and 22.6% of genotyped individuals harbored PVs using 44-gene and the 141 gene panel, respectively. The most frequently mutated genes were: BRCA2 (3.7%); BRCA1 (3.6%) and monoallelic MUTYH (3.1%). CONCLUSION: The rate of PVs detected in high-risk individuals in this study was twice the 10% threshold used in Brazilian health guidelines. MGPT doubled the detection rate of PVs in cancer susceptibility genes in high-risk individuals compared with BRCA1/BRCA2 genotyping alone. The spectrum of PVs in Southern Brazil is diverse, with few recurring variants such as TP53 (0.6%), suggesting regional founder effects. The use of MGPT in hereditary cancer in Minas Gerais significantly increased the detection rate of P/LPVs compared to existing guidelines and should be considered as the primary genotyping modality in assessing hereditary cancer risk in Brazil.

Response to geometrical visual illusions in non-human animals: a meta-analysis.

Visual illusions have been studied in many non-human species, spanning a wide range of biological and methodological variables. While early reviews have proved useful in providing an overview of the field, they have not been accompanied by quantitative analysis to systematically evaluate the contribution of biological and methodological moderators on the proportion of illusory choice. In the current meta-analytical study, we confirm that geometrical visual illusion perception is a general phenomenon among non-human animals. Additionally, we found that studies testing birds report stronger illusion perception compared to other classes, as do those on animals with lateral-positioned eyes compared to animals with forward-facing eyes. In terms of methodological choices, we found a positive correlation between the number of trials during training or testing and the effect sizes, while studies with larger samples report smaller effect sizes. Despite studies that trained animals with artificial stimuli showing larger effect sizes compared with those using spontaneous testing with naturalistic stimuli, like food, we found more recent studies prefer spontaneous choice over training. We discuss the challenges and bottlenecks in this area of study, which, if addressed, could lead to more successful advances in the future.