A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome.

Gitelman syndrome (GS) is the most prevalent genetic tubulopathy characterized by several electrolyte abnormalities, including hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. These features are caused by a bi-allelic mutation in the SLC12A3 gene. In this report, we present a case of GS in an asymptomatic woman who incidentally exhibited hypokalemia during an antenatal check-up. Her biochemical profile was consistent with GS. Genetic analysis revealed two heterozygous variants in trans, namely, NM_001126108.2:c.625C>T; p.(Arg209Trp) and c.965C>T; p.(Ala322Val). The c.625C>T; p.(Arg209Trp) variant has previously been experimentally confirmed as a loss-of-function (LOF) variant. However, the functional impact of the c.965C>T variant, located at the 5 prime end of exon 8, has not been fully elucidated. Through the utilization of both complementary DNA (cDNA) and minigene analysis, we confirmed that the c.965C>T variant can generate two distinct cDNA transcripts. The first transcript carries a missense mutation, p.(Ala322Val) in the full SLC12A3 transcript, while the second transcript consists of an in-frame deletion of both exons 7 and 8 in the SLC12A3 transcript, in which may result in the loss of transmembrane regions 5 - 6 involved in chloride transport. Our findings provide insights into the intricate mechanisms of splicing, highlighting how a variant in one exon can remotely influence the transcription of an upstream exon, as observed with the variant in exon 8 impacting the transcription of exon 7.

Exploring near-infrared autofluorescence properties in parathyroid tissue: an analysis of fresh and paraffin-embedded thyroidectomy specimens.

Significance: Near-infrared autofluorescence (NIRAF) utilizes the natural autofluorescence of parathyroid glands (PGs) to improve their identification during thyroid surgeries, reducing the risk of inadvertent removal and subsequent complications such as hypoparathyroidism. This study evaluates NIRAF's effectiveness in real-world surgical settings, highlighting its potential to enhance surgical outcomes and patient safety. Aim: We evaluate the effectiveness of NIRAF in detecting PGs during thyroidectomy and central neck dissection and investigate autofluorescence characteristics in both fresh and paraffin-embedded tissues. Approach: We included 101 patients diagnosed with papillary thyroid cancer who underwent surgeries in 2022 and 2023. We assessed NIRAF's ability to locate PGs, confirmed via parathyroid hormone assays, and involved both junior and senior surgeons. We measured the accuracy, speed, and agreement levels of each method and analyzed autofluorescence persistence and variation over 10 years, alongside the expression of calcium-sensing receptor (CaSR) and vitamin D. Results: NIRAF demonstrated a sensitivity of 89.5% and a negative predictive value of 89.1%. However, its specificity and positive predictive value (PPV) were 61.2% and 62.3%, respectively, which are considered lower. The kappa statistic indicated moderate to substantial agreement (kappa = 0.478; P < 0.001 ). Senior surgeons achieved high specificity (86.2%) and PPV (85.3%), with substantial agreement (kappa = 0.847; P < 0.001 ). In contrast, junior surgeons displayed the lowest kappa statistic among the groups, indicating minimal agreement (kappa = 0.381; P < 0.001 ). Common errors in NIRAF included interference from brown fat and eschar. In addition, paraffin-embedded samples retained stable autofluorescence over 10 years, showing no significant correlation with CaSR and vitamin D levels. Conclusions: NIRAF is useful for PG identification in thyroid and neck surgeries, enhancing efficiency and reducing inadvertent PG removals. The stability of autofluorescence in paraffin samples suggests its long-term viability, with false positives providing insights for further improvements in NIRAF technology.

Exposure of individuals aged 18-44 years to personal care products in Beijing, China: Exposure profiles, possible influencing factors, and risk assessment.

Personal care products (PCPs) are a class of emerging pollutants that have attracted public concern owing to their harmful effects on humans and the environment. Biomonitoring data is valuable for insight the levels of PCPs in the human body and can be crucial for identifying potential health hazards. To gain a better understanding of timely exposure profiles and health risk of reproductive-age population to PCPs, we determined six parabens, six benzophenone-type ultraviolet filters, and three disinfectants in 256 urine samples collected from young adults aged 18-44 years in Beijing, China. The urinary levels of benzophenone-3 (BP-3) and 4-hydroxybenzophenone (4-OHBP) were significantly higher in summer compared to winter, suggesting these compounds have different seasonal usage patterns. Moreover, the total concentration of 15 PCPs in female was 430 ng/mL, approximately two times higher than that in male. P­chloro-m-xylenol (PCMX), as a new type of antibacterial agent, has the greatest level among all target analytes, indicating the increasingly use of this antibacterial alternative recently. Five potential influencing factors that lead to the elevated exposure level of PCPs were identified. Over 19% of the target population had a high hazard index value (greater than 1) which was attributed to exposure to propyl paraben (PrP), benzophenone-1 (BP-1), BP-3 and PCMX, indicating that PCPs may pose a relatively high exposure risk at environmental levels that should be a cause for concern.

Integrating pretest probability for rheumatoid arthritis with likelihood ratios of RF and ACPA to improve clinical utility of rheumatoid arthritis autoantibody testing.

BACKGROUND AND AIMS: Rheumatoid arthritis (RA) manifests through various symptoms and systemic manifestations. Diagnosis involves serological markers like rheumatoid factor (RF) and anti-citrullinated protein antibodies (ACPA). Past studies have shown the added value of likelihood ratios (LRs) in result interpretation. LRs can be combined with pretest probability to estimate posttest probability for RA. There is a lack of information on pretest probability. This study aimed to estimate pretest probabilities for RA. MATERIALS AND METHODS: This retrospective study included 133 consecutive RA patients and 651 consecutive disease controls presenting at a rheumatology outpatient clinic. Disease characteristics, risk factors associated with RA and laboratory parameters were documented for calculating pretest probabilities and LRs. RESULTS: Joint involvement, erosions, morning stiffness, and positive CRP, ESR tests significantly correlated with RA. Based on these factors, probabilities for RA were estimated. Besides, LRs for RA were established for RF and ACPA and combinations thereof. LRs increased with antibody levels and were highest for double high positivity. Posttest probabilities were estimated based on pretest probability and LR. CONCLUSION: By utilizing pretest probabilities for RA and LRs for RF and ACPA, posttest probabilities were estimated. Such approach enhances diagnostic accuracy, offering laboratory professionals and clinicians insights in the value of serological testing during the diagnostic process.

Development of an equation to predict delta bilirubin levels using machine learning.

OBJECTIVE: Delta bilirubin (albumin-covalently bound bilirubin) may provide important clinical utility in identifying impaired hepatic excretion of conjugated bilirubin, but it cannot be measured in real-time for diagnostic purposes in clinical laboratories. METHODS: A total of 210 samples were collected, and their delta bilirubin levels were measured four times using high-performance liquid chromatography. Data collected included age, sex, diagnosis code, delta bilirubin, total bilirubin, direct bilirubin, total protein, albumin, globulin, aspartate aminotransferase, alanine transaminase, alkaline phosphatase, gamma-glutamyl transferase, lactate dehydrogenase, hemoglobin, serum hemolysis value, hemolysis index, icterus value (Iv), icterus index (Ii), lipemia value (Lv), and lipemia index. To conduct feature selection and identify the optimal combination of variables, linear regression machine learning was performed 1,000 times. RESULTS: The selected variables were total bilirubin, direct bilirubin, total protein, albumin, hemoglobin, Iv, Ii, and Lv. The best predictive performance for high delta bilirubin concentrations was achieved with the combination of albumin-direct bilirubin-hemoglobin-Iv-Lv. The final equation composed of these variables was as follows: delta bilirubin = 0.35 × Iv + 0.05 × Lv - 0.23 × direct bilirubin - 0.05 × hemoglobin - 0.04 × albumin + 0.10. CONCLUSION: The equation established in this study is practical and can be easily applied in real-time in clinical laboratories.

Biological variation of methylmalonic acid in urine in spanish population.

BACKGROUND-AIM: Methylmalonic acid (MMA) is currently the best biomarker of functional vitamin B12 deficiency. However, for a correct interpretation of the patient's results it is necessary to know its biological variation (BV). No BV data are available for urine MMA values, as measured by mass spectrometry. Hence, the aim of this study was to estimate the within- and between-person coefficients of variation (CVw, CVg) for MMA in a healthy population, and the associated index of individuality (II), as well as to define quality specifications based on BV and the reference change value (RCV). METHODS: Random urine samples from 34 healthy volunteers were collected over four consecutive weeks. Samples were stored at -80 °C until analysis in a single analytical run. MMA excretion was quantified by tandem liquid chromatography coupled to mass spectrometry (HPLC-MS/MS). Results were normalized to urine creatinine. The coefficients of variation were estimated by CV-ANOVA. Confidence intervals (95 %) were calculated. Quality specifications were defined according to international recommendations. RESULTS: A total of 128 samples were included. The coefficients of variation were CVw = 35.7 % (26.1-45.3) and CVg = 67.7 % (58.3-77.0). The associated II was 0.5 and the RCV was 88.1 %. CONCLUSION: Considering the II obtained, MMA in urine has high individuality, therefore, RCV is better to evaluate serial clinical results. Our results will contribute to a better clinical interpretation of this biomarker and will represent a great aid when defining analytical performance specifications for this magnitude.

The effect of genetic polymorphisms in STIM1 and ORAI1 on erythropoietin resistance in Egyptian patients with end-stage renal disease.

Chronic renal failure (CRF) is an incurable disease with unique challenges. Anemia is a frequent complication affecting dialysis patients. Erythropoietin (EPO) is used to treat anemia, but a poor response may result. We investigated genetic polymorphisms of store-operated calcium channel (SOC) signaling, an important erythropoietin-activated pathway that may induce EPO resistance in patients with renal failure. A total of 108 end stage renal disease (ESRD) patients were selected for this study. Patients were divided into two groups according to their erythropoietin resistance index (ERI): 39 patients with an ERI>10 and 69 patients with an ERI<10. We selected four tagging single nucleotide polymorphisms (tSNPs) in STIM1 and five in ORAI1 in our study. A polymerase chain reaction was performed, and genotyping against EPO resistance was correlated. Patients with the AG genotype of rs1561876 in STIM1, the TC genotype of rs6486795 in ORAI1, and the TG or GG genotypes of rs12320939 in ORAI1 were associated with an increased risk of erythropoietin resistance. Overall, we reported a moderately significant relationship between genetic polymorphisms of STIM1 and EPO resistance. We also reported a highly significant relationship between genetic polymorphisms of ORAI1 and EPO resistance. The (A-A-G) haplotype of STIM1 and the (G-T-G-T-A, G-C-G-C-G, or G-T-T-C-G) haplotypes of ORAI1 were significantly associated with EPO resistance.

The association of isocarbophos and isofenphos with different types of glucose metabolism: The role of inflammatory cells.

To investigate the associations between isocarbophos and isofenphos with impaired fasting glucose (IFG) and type 2 diabetes mellitus (T2DM), and to assess the mediation roles of inflammation cells. There were 2701 participants in the case-control study, including 896 patients with T2DM, 900 patients with IFG, 905 subjects with NGT. Plasma isocarbophos and isofenphos concentrations were measured using gas chromatography and triple quadrupole tandem mass spectrometry. Generalized linear models were used to calculate the relationships between plasma isofenphos and isocarbophos levels with inflammatory factor levels and T2DM. Inflammatory cell was used as mediators to estimate the mediating effects on the above associations. Isocarbophos and isofenphos were positively related with T2DM after adjusting for other factors. The odds ratio (95% confidence interval) (OR (95%CI)) for T2DM was 1.041 (1.015, 1.068) and for IFG was 1.066 (1.009, 1.127) per unit rise in ln-isocarbophos. The prevalence of T2DM increased by 6.4% for every 1 unit more of ln-isofenphos (OR (95% CI): 1.064 (1.041, 1.087)). Additionally, a 100% rise in ln-isocarbophos was linked to 3.3% higher ln-HOMA2IR and a 0.029 mmol/L higher glycosylated hemoglobin (HbA1c) (95% CI: 0.007, 0.051). While a 100% rise in ln-isofenphos was linked to increase in ln-HOMA2 and ln-HOMA2IR of 5.8% and 3.4%, respectively. Furthermore, white blood cell (WBC) and neutrophilic (NE) were found to be mediators in the relationship between isocarbophos and T2DM, and the corresponding proportions were 17.12% and 17.67%, respectively. Isofenphos and isocarbophos are associated with IFG and T2DM in the rural Chinese population, WBC and NE have a significant role in this relationship.

Assessment of internal exposure risk from metals pollution of occupational and non-occupational populations around a non-ferrous metal smelting plant.

Non-ferrous metal smelting poses significant risks to public health. Specifically, the copper smelting process releases arsenic, a semi-volatile metalloid, which poses an emerging exposure risk to both workers and nearby residents. To comprehensively understand the internal exposure risks of metal(loid)s from copper smelting, we explored eighteen metal(loid)s and arsenic metabolites in the urine of both occupational and non-occupational populations using inductively coupled plasma mass spectrometry with high-performance liquid chromatography and compared their health risks. Results showed that zinc and copper (485.38 and 14.00 µg/L), and arsenic, lead, cadmium, vanadium, tin and antimony (46.80, 6.82, 2.17, 0.40, 0.44 and 0.23 µg/L, respectively) in workers (n=179) were significantly higher compared to controls (n=168), while Zinc, tin and antimony (412.10, 0.51 and 0.15 µg/L, respectively) of residents were significantly higher than controls. Additionally, workers had a higher monomethyl arsenic percentage (MMA%), showing lower arsenic methylation capacity. Source appointment analysis identified arsenic, lead, cadmium, antimony, tin and thallium as co-exposure metal(loid)s from copper smelting, positively relating to the age of workers. The hazard index (HI) of workers exceeded 1.0, while residents and control were approximately at 1.0. Besides, all three populations had accumulated cancer risks exceeding 1.0 × 10-4, and arsenite (AsIII) was the main contributor to the variation of workers and residents. Furthermore, residents living closer to the smelting plant had higher health risks. This study reveals arsenic exposure metabolites and multiple metals as emerging contaminants for copper smelting exposure populations, providing valuable insights for pollution control in non-ferrous metal smelting.

Arsenic exposure and oxidative damage to lipid, DNA, and protein among general Chinese adults: A repeated-measures cross-sectional and longitudinal study.

Arsenic-related oxidative stress and resultant diseases have attracted global concern, while longitudinal studies are scarce. To assess the relationship between arsenic exposure and systemic oxidative damage, we performed two repeated measures among 5236 observations (4067 participants) in the Wuhan-Zhuhai cohort at the baseline and follow-up after 3 years. Urinary total arsenic, biomarkers of DNA oxidative damage (8-hydroxy-2'-deoxyguanosine (8-OHdG)), lipid peroxidation (8-isoprostaglandin F2alpha (8-isoPGF2α)), and protein oxidative damage (protein carbonyls (PCO)) were detected for all observations. Here we used linear mixed models to estimate the cross-sectional and longitudinal associations between arsenic exposure and oxidative damage. Exposure-response curves were constructed by utilizing the generalized additive mixed models with thin plate regressions. After adjusting for potential confounders, arsenic level was significantly and positively related to the levels of global oxidative damage and their annual increased rates in dose-response manners. In cross-sectional analyses, each 1% increase in arsenic level was associated with a 0.406% (95% confidence interval (CI): 0.379% to 0.433%), 0.360% (0.301% to 0.420%), and 0.079% (0.055% to 0.103%) increase in 8-isoPGF2α, 8-OHdG, and PCO, respectively. More importantly, arsenic was further found to be associated with increased annual change rates of 8-isoPGF2α (ß: 0.147; 95% CI: 0.130 to 0.164), 8-OHdG (0.155; 0.118 to 0.192), and PCO (0.050; 0.035 to 0.064) in the longitudinal analyses. Our study suggested that arsenic exposure was not only positively related with global oxidative damage to lipid, DNA, and protein in cross-sectional analyses, but also associated with annual increased rates of these biomarkers in dose-dependent manners.

The growth factor content as an indicator of platelet counts in platelet-rich plasma.

BACKGROUND: Platelet contains growth factors that enhance tissue repair mechanisms, including epidermal growth factor (EGF), platelet-derived growth factor (PDGF-AA and -AB), and transforming growth factor (TGF)-ß. Autologous platelet-rich plasma (PRP) has been shown to significantly improve the treatment of tendon injuries compared with hyaluronic acid and placebo. The topic of agreement between platelet concentrations and growth factors has been covered in some previous studies, but growth factor levels did not correlate well with platelet concentrations. METHOD: In this study, autologous PRP was prepared by concentrating platelets through a J6-MI centrifuge. The automatic hematology analyzer Sysmex XN-20 was used to analyze the platelet concentration in PRP, and the PRP growth factors were determined by ELISA, including PDGF, transforming growth factor- ß1 (TGF-ß1), and EGF. Statistical analysis was conducted on data from 107 patients who received autologous PRP using Pearson correlation analysis. RESULTS: Pearson correlation analysis revealed PDGF, TGF, and EGF had a strong positive correlation with the platelet concentration of the final PRP product (r = 0.697, p < 0.0001; r = 0.488, p < 0.0001; r = 0.572, p < 0.0001, respectively) CONCLUSIONS: There was a strong positive correlation between the concentration of platelets in the final PRP product and the levels of PDGF-AB, TGF-ß, and EGF. These results suggested straightforward and cost-effective growth factor tests can provide valuable information about platelet content in PRP.

Conocimiento en estudiantes de enfermería sobre desinfección terminal del área quirúrgica / Knowledge in nursing students about terminal disinfection of the surgical area

Determinar el nivel de conocimiento de los estudiantes de enfermería de la Universidad Técnica de Ambato sobre la desinfección terminal del área quirúrgica. Metodología: Esta investigación es cuantitativa, con enfoque descriptivo de cohorte transversal ya que el nivel de conocimiento se ha representado mediante tablas y gráficos para describir la problemática del periodo octubre 2023-febrero 2024. Resultados: Se evidencia el alto porcentaje de respuestas incorrectas por cada ítem por parte de los estudiantes. La categoría desinfección fue respondida de manera incorrecta con un porcentaje del 26%, la categoría proceso de desinfección con el 55,6%, la categoría aplicación del DAN con el 45.8%, la categoría desinfectante del DAN con el 36,2% y, por último, la categoría riesgo y prevención del DAN con el 29,2%. Conclusiones: El nivel de conocimiento de los estudiantes sobre desinfección es bajo, porque no están lo suficientemente motivados o interesados en el tema de desinfección[AU]

Determine the level of knowledge of nursing students at the Technical University of Ambato about terminal disinfection of the surgical area.Methodology:This research is quantitative, with a descriptive cross-sectional cohort approach and the level of knowledge has been represented through tables and graphs to describe the problems of the period October 2023-February 2024.Results:A high percentage of incorrect answers for each item by the students is evident. The disinfection category was answered incorrectly with a percentage of 26%, the disinfection process category with 55.6%, the DAN application category with 45.8%, the disinfectant category with 36.2% and, finally, the DAN risk and prevention category. with 29.2%. Conclusions:The level of knowledge of students about disinfection is low, because they are not sufficiently motivated or interested in the topic of disinfection[AU]

Determinar o nível de conhecimento dos estudantes de enfermagem da Universidade Técnica de Ambato sobre desinfecção terminal da área cirúrgica. Metodologia:Esta pesquisa é quantitativa, com abordagem descritiva de coorte transversal e o nível de conhecimento foi representado por meio de tabelas e gráficos para descrever os problemas do período outubro de 2023 a fevereiro de 2024.Resultados: Evidencia-se um alto percentual de respostas incorretas para cada item por parte dos alunos. A categoria desinfecção foi respondida incorretamente com um percentual de 26%, a categoria processo de desinfecção com 55,6%, a categoria aplicação DAN com 45,8%, a categoria desinfetante com 36,2% e, por último, a categoria risco e prevenção DAN. com 29,2%.Conclusões:O nível de conhecimento dos alunos sobre desinfecção é baixo, porque não estão suficientemente motivados ou interessados no tema da desinfecção[AU]

Estudiar y trabajar como factores de riesgo en estudiantes de enfermería, Universidad Nacional Formosa, 2022 / Study and work as risk factors in nursing students, National University of Formosa,2022

Objetivo: Correlacionar la variable principal sostén del hogar con las variables género, edad, horas de trabajo, horas de sueño y factores de riesgo cardiovascular (índice de masa corporal, hipertensión arterial, dislipemia y diabetes mellitus), en estudiantes de 3º, 4 y 5º año de la Licenciatura en Enfermería, Universidad Nacional de Formosa. Metodología: estudio descriptivo, correlacional, transversal realizado en 214 estudiantes, durante el año 2022, utilizándose un cuestionario on-line autoadministrado, estructurado y medición de peso y talla. Resultados: el 76% fueron mujeres; 64%, principal fueron principal sostén del hogar, 57% refirió dormir menos de 6 horas al día, 15 % trabaja más de 41 horas semanales; 67% tuvo respuestas no saludables a la variable estrés, para la variable actividad física este valor ascendió a 71% y el 53,8% presentó exceso de peso. Se encontró asociación significativa entre ser el principal sostén del hogar con exceso de peso, trabajar 41 horas o más semanalmente, dormir menos de 6 horas al día y con la presencia de 3 o más factores de riesgo cardiovascular. Conclusiones: Las condiciones de vida que afrontan los estudiantes que de manera simultánea estudian, trabajan y son principal sostén del hogar pueden generar estrés, el cual es un factor de riesgo para las enfermedades cardiovasculares[AU]

Objetive: to correlate the main variable of primary income earner or primary breadwinner with gender, age, working hours, sleep hours, and cardiovascular disease risk factors (body mass index, hypertension, dyslipidemia, and diabetes mellitus) in 3rd, 4th, and 5th-year nursing students at the Nursing Program at the National University of Formosa. Methodology: The study was a descriptive, correlational, cross-sectional, conducted with 214 students during 2022 using a self-administered structured online questionnaire and measurement of weight and height. Results: 76% were women, 64% were the main breadwinner, 57% reported sleeping less than 6 hours a day, 15% working more than 41 hours per week; 67% had unhealthy responses to the stress variable, this value rose to 71% for the physical activity variable, and 53.8% were overweight. A significant association was found between the main variable of primary breadwinner and being overweight, working 41 or more hours weekly, and the presence of 3 or more cardiovascular risk factors. Conclusions: The living conditions faced by students who simultaneously study and work, and being the main breadwinner in the household can generate stress, which is a risk factor for cardiovascular diseases[AU]

Objetivo:: correlacionar a variável principal de sustento econômico do lar com as variáveis gênero, idade, horas de trabalho, horas de sono e fatores de risco cardiovascular (índice de massa corporal,hipertensão arterial, dislipidemia e diabetes mellitus) em estudantes do 3º, 4º e 5º ano do curso de graduação em Enfermagem, Universidade Nacional de Formosa. Metodologia: O estudo foi descritivo, correlacional e transversal, realizado em 214 estudantes durante o ano de 2022. Foi utilizado um questionário online autoadministrado e estruturado, e a medição de peso e altura dos estudantes foi realizada. Resultados: 76% dos estudantes eram mulheres; 64% eram o principal sustento econômico do lar; 57% relataram dormir menos de 6 horas por dia, 15% responderam que trabalham mais de 41 horas por semana; em relação aos fatores de risco cardiovascular, 67% tiveram respostas não saudáveis para a variável estresse, para a variável atividade física esse valor aumentou para 71% e 53,8% apresentaram excesso de peso. Foi encontrada uma associação significativa entre a variável principal de sustento econômico do lar com as variáveis excesso de peso, trabalhar 41 horas ou mais por semana, dormir menos de 6 horas al día e a presença de 3 ou mais fatores de risco cardiovascular. Conclusões: As condições de vida enfrentadas pelos estudantes que simultaneamente estudam, trabalham e são o principal sustento do lar podem gerar estresse, que é um fator de risco para doenças cardiovasculares[AU]

Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Efeito do tônus do corpo perineal nas disfunçõessexuais em mulheres jovens nulíparas / Effect of perineal body tone on sexual dysfunctionsin young nulliparous women

Objetivo: avaliar o tônus do corpo perineal em mulheres jovens nulíparas e correlacionar com as funções sexuais e a presença de disfunção sexual. Método: foi realizado um estudo descritivo, observacional, transversal utilizando uma amostra de conveniência incluindo mulheres adultas jovens nulíparas. A avaliação das participantes consistiu na aplicação dos questionários socioclínico, Pelvic Organ Prolaps / Urinary Incontinence Sexual Questionnaire (PISQ-12), Female Sexual Function Index (FSFI) e exame físico do tônus do corpo perineal. Os dados foram analisados pelo programa Statistical Package for the Social Sciences (SPSS®), versão 23, adotando um nível de significância de 5%. Resultados: participaram 77 mulheres jovens nulíparas (21,68 ± 2,94 anos), destas 77, 92% apresentavam vida sexual ativa e 66,03% tônus normal do corpo perineal. Dentre as alterações tônicas, o aumento do tônus predominou (33,76%). Houve alta prevalência de disfunção sexual (87,01%) pelo FSFI (23,38 ± 7,21) com maior queixa de dispareunia. Mulheres com tônus aumentado apresentaram maior disfunção sexual em relação a desejo e estímulo subjetivo (p=0,04), à excitação (p=0,01), satisfação (p=0,04) e dor ou a desconforto (p=0,03). Houve correlação inversa entre a presença de aumento do tônus e os domínios FSFI desejo e estímulo subjetivo (R= - 0,56) e excitação (R= - 0,34) e correlação direta para dor ou desconforto (R= 0,30). Conclusão: o aumento do tônus do corpo perineal piora a função sexual de mulheres jovens nulíparas.

Sexual Function Index (FSFI) and physical examination of the tone of the perineal body. The data were analyzed using the Statistical Package for the Social Sciences (SPSS®), version 23, adopting a significance level of 5%. Results: 77 young nulliparous women (21.68 ± 2.94 years) participated, of which 77, 92% had an active sexual life and 66.03% had normal tone of the perineal body. Among the tonic changes, increased tone predominated (33.76%). There was a high prevalence of sexual dysfunction (87.01%) according to the FSFI (23.38 ± 7.21) with greater complaints of dyspareunia. Women with increased tone had greater sexual dysfunction in relation to desire and subjective stimulation (p=0.04), excitement (p=0.01), satisfaction (p=0.04) and pain or discomfort (p=0.03). There was an inverse correlation between the presence of increased tone and the FSFI domains desire and subjective stimulus (R= - 0.56) and excitement (R= - 0.34) and a direct correlation for pain or discomfort (R= 0.30). Conclusion: increased perineal body tone worsens sexual function in young nulliparous women.

Prevalência de Influenza A, vírus sincicial respiratório eSARS-CoV-2 em pacientes com síndrome respiratóriaaguda grave em Passo Fundo, Rio Grande do Sul / Prevalence of Influenza A, respiratory syncytial virus andSARS-CoV-2 in patients with severe acute respiratorysyndrome in Passo Fundo, Rio Grande do Sul

A síndrome respiratória aguda grave (SRAG) é caracterizada por sintomas de febre alta, tosse e dispneia, e, na maioria dos casos, relacionada a uma quantidade reduzida de agentes infecciosos. O objetivo foi avaliar a prevalência dos vírus respiratórios Influenza A (FluA), vírus sincicial respiratório (RSV) e do novo coronavírus (SARS-CoV-2) em pacientes com internação hospitalar por SRAG. Estudo transversal, com pacientes em internação hospitalar com SRAG entre novembro de 2021 e maio de 2022. Dados sociodemográficos e clínicos e amostras da nasofaringe foram coletados/as, as quais foram submetidas à extração de RNA e testadas quanto à positividade para Influenza A, RSV e SARS-CoV-2 por meio da técnica de PCR em tempo real pelo método SYBR Green. Foram incluídos 42 pacientes, sendo 59,5% do sexo feminino, 57,1% idosos, 54,8% com ensino fundamental. A maior parte dos pacientes reportou hábito tabagista prévio ou atual (54,8%), não etilista (73,8%) e 83,3% deles apresentavam alguma comorbidade, sendo hipertensão arterial sistêmica e diabetes mellitus tipo 2 as mais prevalentes. Um total de 10,5% dos pacientes testou positivo para FluA, nenhuma amostra positiva para RSV e 76,3% positivos para SARS-CoV-2. Na população estudada, SRAG com agravo hospitalar foi observado em maior proporção, em mulheres, idosos e pessoas com comorbidades, embora sem significância estatística, sendo o novo coronavírus o agente etiológico mais relacionado, o que evidencia a patogenicidade desse agente e suas consequências ainda são evidentes após quase 2 anos de período pandêmico.

Severe acute respiratory syndrome (SARS) is characterized by symptoms of high fever, cough and dyspnea, and is in most cases related to a reduced amount of infectious agents. The objective was to assess the prevalence of respiratory viruses Influenza A (FluA), respiratory syncytial virus (RSV) and the new coronavirus (SARS-CoV-2) in patients hospitalized for SARS. Cross-sectional study, with patients hospitalized with SARS between November 2021 and May 2022. Sociodemographic and clinical data and nasopharyngeal samples were collected, which were subjected to RNA extraction and tested for positivity for Influenza A, RSV and SARS-CoV-2 using the real-time PCR technique using the SYBR Green method. 42 patients were included, 59.5% female, 57.1% elderly, 54.8% with primary education. Most patients reported previous or current smoking habits (54.8%), non-drinkers (73.8) and 83.3% of them had some comorbidity, with systemic arterial hypertension and type 2 diabetes mellitus being the most prevalent. A total of 10.5% of patients tested positive for FluA, no samples positive for RSV, and 76.3% positive for SARS-CoV-2. In the studied population, SARS with hospital injury was observed more frequently in women and the elderly, with associated comorbidities, with the new coronavirus being the most related etiological agent, which shows, although not statistically significant, that the pathogenicity of this agent and its consequences are still evident after almost 2 years of period pandemic.

Usabilidade de um aplicativo móvel de apoio aos profissionaisde saúde para cálculos de doses de vancomicina / Usability of a mobile application supporting healthprofessionals on vancomycin dosing calculation

O aplicativo móvel CalcVAN foi desenvolvido para auxiliar os profissionais de saúde para otimizar as doses de vancomicina em pacientes hospitalizados. Porém, é imprescindível avaliar a sua usabilidade antes de disponibilizá-lo para prática clínica. Assim, o objetivo do estudo é avaliar a usabilidade do aplicativo móvel na perspectiva dos profissionais de saúde. Trata-se de um estudo descritivo, de avaliação heurística da usabilidade de um aplicativo móvel. Foram convidados profissionais da área de saúde com expertise no tema de gerenciamento de antimicrobianos e vancomicina. O instrumento validado Smartphone Usability questionnaiRE (SURE) foi utilizado para mensuração da usabilidade por meio de um questionário on-line. Vinte e um especialistas participaram do estudo, com média de idade de 32,6 anos, sendo a maioria de mulheres (n = 14, 66,7%), profissionais farmacêuticos (n = 13, 61,9%), com pós-graduação lato sensu (n = 10, 47,6%), que trabalhavam em hospitais públicos ou privados (n = 15, 71,4%) e com média de experiência em 9,7 anos. Com base na interpretação dos resultados obtidos pelo instrumento SURE, a média de usabilidade geral do CalcVAN foi de 83 pontos, com escore menor de 78 e maior de 90 pontos. O teste de usabilidade foi enquadrado nos dois últimos níveis, 70 e 80, onde os profissionais de saúde passaram a concordar fortemente e totalmente, indicando que o aplicativo móvel apresenta uma usabilidade satisfatória. O CalcVAN atingiu uma usabilidade satisfatória e atende as necessidades e exigências dos profissionais de saúde, mostrando--se eficiente para realizar as funções propostas.

The CalcVAN app was developed to assist healthcare professionals in optimizing vancomycin doses for hospitalized patients. However, the usability test before making it available for clinical practice is essential. Therefore, the study aims to evaluate the usability of the app from the perspective of health professionals. A descriptive study, a heuristic evaluation of the usability of a mobile application was conducted. Healthcare professionals with expertise in antimicrobial management and vancomycin were invited to participate. The validated Smartphone Usability questionnaiRE (SURE) was used to measure usability through an online questionnaire. Twenty-one experts participated in the study, with a mean age of 32.6 years, mostly of them women (n = 14, 66.7%), pharmacists (n = 13, 61.9%), with postgraduate education (n = 10, 47.6%), working in private or public hospitals (n = 15, 71.4%), and a mean experience of 9.7 years. Overall usability score for CalcVAN was 83 points, ranging from a minimum of 78 to a maximum of 90 points. The usability test registered within the last two levels, 70 and 80, with users expressing strongly and fully agreed, indicating that the app demonstrates satisfactory usability. CalcVAN achieved satisfactory usability, fulfilling the needs and requirements of health professionals, proving to be efficient in performing the intended functions.

Avaliação da influência da pandemia de Covid-19 no risco de desenvolvimento de transtornos alimentares em mulheres / Assessment of the influence of the Covid-19 pandemicon the risk of developing eating disorders in women

Objetivo: verificar a influência da pandemia de Covid-19 no risco de desenvolvimento de transtornos alimentares em mulheres. Metodologia: pesquisa quantitativa, com mulheres com acesso ao computador, a celular e à internet. A coleta de dados foi realizada a partir de um questionário on-line contendo 60 perguntas, com respostas fechadas, que visavam conhecer a sua relação com a alimentação. Foram verificados o consumo alimentar e o risco de desenvolvimento de anorexia nervosa (Eating Attitudes Test - EAT-26) e bulimia nervosa (Bulimic Investigatory Test, Edinburgh- BITE). Resultados: participaram da pesquisa 92 mulheres, sendo que 81,50% (n=75) referiram que ficaram em casa durante a pandemia. Sobre a ingestão de alimentos, 45,70% (n=42) relataram que consumiram diariamente frutas e hortaliças, 55,40% (n=51) ingeriram de 1 a 2 vezes/semana bolachas, salgadinhos, doces e guloseimas e 62,00% (n=57) consumiam embutidos pelo menos 1 vez/semana. Ainda, 18,50% (n=17) apresentaram risco para o desenvolvimento de anorexia nervosa e 83,60% (n=73) risco de bulimia nervosa. Entretanto, analisando se esse risco estava associado à pandemia, verificou-se que não houve diferença significativa entre o grupo que permaneceu em casa e o grupo que saiu para trabalhar (p > 0,05). Conclusão: portanto, grande parte das voluntárias apresentaram um risco de desenvolver algum transtorno alimentar, entretanto, não houve uma relação entre o possível risco de desenvolver transtornos alimentares influenciado pela pandemia.

Objective: to verify the influence of the Covid-19 pandemic on the risk of developing eating disorders in women. Methodology: quantitative research, with women with access to a computer, cell phone and internet. Data collection was carried out using an online questionnaire containing 60 questions, with closed answers, which aimed to understand their relationship with food. Food consumption Abstract and the risk of developing nervous anorexia (Eating Attitudes Test - EAT-26) and nervous bulimia (Bulimic Investigatory Test, Edinburgh - BITE) were verified. Results: 92 women participated in the research, with 81.50% (n=75) reporting that they stayed at home during the pandemic. Regarding food intake, 45.70% (n=42) reported that they consumed fruits and vegetables daily, 55.40% (n=51) ate cookies, snacks, sweets and sweets 1 to 2 times/week and 62, 00% (n=57) consumed sausages at least once/week. Furthermore, 18.50% (n=17) were at risk for developing nervous anorexia and 83.60% (n=73) were at risk for nervous bulimia. However, analyzing whether this risk was associated with the pandemic, it was found that there was no significant difference between the group that remained at home and the group that went out to work (p > 0.05). Conclusion: therefore, most of the volunteers presented a risk of developing an eating disorder, however, there was no relationship between the possible risk of developing eating disorders influenced by the pandemic.

Rastreamento da síndrome metabólica em participantesdo programa Universidade Aberta da Terceira Idade / Metabolic syndrome screening in the participantsat the Open University of the Third Age

Hábitos alimentares inadequados, sedentarismo e a maior expectativa de vida da população contribuem significativamente para a prevalência da síndrome metabólica. Essa doença predispõe uma pessoa a desenvolver diabetes mellitus tipo 2 e doenças cardiovasculares, as quais têm um amplo impacto na saúde pública, induzindo sobrecarga no sistema de saúde e reduzindo a qualidade de vida dos indivíduos afetados. A síndrome metabólica é uma doença multifatorial e está relacionada ao processo de envelhecimento, contudo, ainda há uma lacuna significativa, em termos de estudos, sobre a prevalência da condição em populações idosas. Nesse contexto, o presente estudo objetivou rastrear a prevalência da síndrome metabólica em participantes da Universidade Aberta da Terceira Idade (UNATI), localizada em Francisco Beltrão, Paraná. Os critérios diagnósticos de síndrome metabólica abordados nesta pesquisa incluem: circunferência abdominal ≥ 90 cm para homens e ≥ 80 cm para mulheres, triglicerídeos ≥ 150 mg/dL, HDL ≤ 40 mg/dL para homens e ≤ 50 mg/dL para mulheres, pressão arterial sistólica ≥ 130 mmHg e/ou pressão arterial diastólica ≥ 85 mmHg ou estar em farmacoterapia para hipertensão, além de glicemia de jejum ≥ 100 mg/dL ou estar em tratamento farmacológico para diabetes. Um total de 44 idosos foram avaliados, apresentando uma média de idade de 66,9 ± 7,1 anos, com uma predominância de mulheres (88%). Os resultados revelaram uma prevalência alarmante de síndrome metabólica, atingindo 36,4% da amostra estudada. Além disso, observou-se uma alta prevalência de condições associadas, como hipertensão arterial (67,2%), sobrepeso (58,6%) e obesidade visceral (31%). Esses achados ressaltam a importância da implementação de medidas preventivas direcionadas à promoção da qualidade de vida saudável e ao controle dos fatores de risco metabólicos.

Inadequate dietary habits, sedentary lifestyle, and increased life expectancy significantly contribute to the prevalence of metabolic syndrome. This condition predisposes an individual to develop type 2 diabetes mellitus and cardiovascular diseases, which have a broad impact on public health, inducing a burden on the healthcare system and reducing the quality of life of affected individuals. Metabolic syndrome is a multifactorial disease and is related to the aging process; however, there is still a significant gap in terms of studies on the prevalence of the condition in elderly populations. In this context, this study aimed to screen the prevalence of metabolic syndrome in participants of the Open University for the Third Age (UNATI), located in Francisco Beltrão, Paraná. The diagnostic criteria for metabolic syndrome addressed in this research include: abdominal circumference ≥ 90 cm for men and ≥ 80 cm for women, triglycerides ≥ 150 mg/dL, HDL ≤ 40 mg/dL for men and ≤ 50 mg/dL for women, systolic blood pressure ≥ 130 mmHg and/or diastolic blood pressure ≥ 85 mmHg or being on pharmacotherapy for hypertension, in addition to fasting glucose ≥ 100 mg/dL or being on pharmacological treatment for diabetes. A total of 44 elderly individuals were evaluated, with a mean age of 66.9 ± 7.1 years, predominantly women (88%). The results revealed an alarming prevalence of metabolic syndrome, affecting 36.4% of the studied sample. Furthermore, a high prevalence of associated conditions was observed, such as arterial hypertension (67.2%), overweight (58.6%), and visceral obesity (31%). These findings underscore the importance of implementing preventive measures aimed at promoting healthy lifestyles and controlling metabolic risk factors.