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1.
Mucosal Immunol ; 2024 Jun 29.
Article in English | MEDLINE | ID: mdl-38950826

ABSTRACT

Streptococcus pneumoniae colonization in the upper respiratory tract is linked to pneumococcal disease development, predominantly affecting young children and older adults. As the global population ages and comorbidities increase, there is a heightened concern about this infection. We investigated the immunological responses of older adults to pneumococcal-controlled human infection by analyzing the cellular composition and gene expression in the nasal mucosa. Our comparative analysis with data from a concurrent study in younger adults revealed distinct gene expression patterns in older individuals susceptible to colonization, highlighted by neutrophil activation and elevated levels of CXCL9 and CXCL10. Unlike younger adults challenged with pneumococcus, older adults did not show recruitment of monocytes into the nasal mucosa following nasal colonization. However, older adults who were protected from colonization showed increased degranulation of cluster of differentiation 8+ T cells, both before and after pneumococcal challenge. These findings suggest age-associated cellular changes, in particular enhanced mucosal inflammation, that may predispose older adults to pneumococcal colonization.

2.
Nurse Educ Pract ; 79: 104057, 2024 Jul 06.
Article in English | MEDLINE | ID: mdl-39025038

ABSTRACT

AIM: This study aims to explore the perceptions of feedback among undergraduate students and faculty members at a Brazilian private nursing school. BACKGROUND: Feedback plays a crucial role in the socioemotional development of learners, with its interpretation varying across different sociocultural contexts. Student evaluations frequently express dissatisfaction regarding both the quality and quantity of feedback received. Conversely, delivering feedback poses a challenge for faculty, requiring the establishment of an empathetic connection that fosters trust and credibility. Brazil, being a developing country characterized by social disparities and economic challenges, presents a unique backdrop for examining feedback dynamics. DESIGN: Qualitative research, employing Inductive Content Analysis, was used to understand feedback perceptions in Brazilian nursing education. Symbolic interactionism was adopted as methodological framework and guided data interpretation. METHODS: We carried out five virtual focus groups composed of a group of teachers (n=5) and four of students (n=34). Semi-structured interviews guided data collection. The recorded sessions were subsequently analyzed to identify key themes and codes. Symbolic interactionism was employed as a framework to derive meaning from qualitative data. RESULTS: Content analysis generated two categories that reveal the perception of teachers and students in the feedback process. The first, called "Feedback in Education: Sociocultural Influences for Students and Teachers", expresses the beliefs and interpretations of students and teachers within the shared feedback environment. The second called "Challenging resonance, transformative construction: Navigating the dualities of feedback for teachers and students", which elucidated how relational dynamics shape behaviors and attitudes, promoting the development of social skills and learning. Faculty's previous feedback experiences significantly influence their self-perception and behavior with students. As a result of the resonance of these past interactions, we recognize that the teaching self also plays a crucial role in the quality and perception of feedback. Furthermore, students construct social reality with similar beliefs and values, they believe in the learning potential generated by feedback. Our findings also corroborate that perceptions of feedback are deeply influenced by the sociocultural context and the narratives corroborate previous findings indicating that, in Brazil, honest feedback can be implicitly perceived as criticism rather than an opportunity for growth. CONCLUSIONS: Faculty members often draw on their past experiences when providing feedback, highlighting the adaptive nature of feedback interactions. Additionally, the feedback process is consistently influenced by the commitment to maintaining positive relationships with students. Students recognize the constructive dimension of feedback as a valuable tool for learning and personal growth.

3.
Clin Nutr ESPEN ; 61: 413-419, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38777463

ABSTRACT

BACKGROUND & AIMS: Malnutrition in children and adolescents is prevalent at hospital admission and the incidence increases with length of stay. Malnourished patients have loss of muscle mass and strength, compromising their functionality. Handgrip strength (HGS) is a nutritional marker understudied in pediatrics although it is capable of detecting nutritional deprivation before changes in body composition are observed. Therefore, this study aimed to evaluate the association between reduced HGS at hospital admission, compromised nutritional status and worse clinical outcomes of pediatric patients. METHODS: Cohort study conducted with patients aged 6-18 years admitted to a pediatric ward. Nutritional status was assessed in the first 48 h of hospital admission using the z-score of height for age (H/A) and body mass index for age (BMI/A), percentile of mid-arm muscle circumference for age (MAMC/A) and the pediatric global subjective nutritional assessment (SGNA). HGS was measured using a digital dynamometer and considered reduced when the maximum value of three measurements was below the 5th percentile for sex and age. The clinical outcomes analyzed were length of hospital stay and frequency of readmission within 3 months after hospital discharge. RESULTS: A total of 135 patients were evaluated (median age 10.9 years, 55.6% male) and 17.8% had reduced HGS. Patients with reduced HGS had lower H/A z-score (-0.50 vs 0.22, p = 0.012) and a higher frequency of reduced MAMC when compared to those with normal HGS (8% vs 13%, p = 0.007). Reduced HGS was not associated with malnutrition (OR = 0.63; 95%CI 0.23-1.77), prolonged hospital stay (OR = 1.89; 95%CI 0.72-4.92) or readmission to hospital 3 months after hospital discharge (OR = 1.82; 95%CI 0.67-4.93), in a model adjusted for the clinical condition. CONCLUSION: Reduced HGS was not a predictor of malnutrition and clinical outcomes. However, it was associated with lower H/A Z-score and MAMC/A percentile values and can be used as a complementary measure in the nutritional status assessment of hospitalized pediatric patients.


Subject(s)
Hand Strength , Hospitalization , Length of Stay , Nutrition Assessment , Nutritional Status , Humans , Child , Male , Female , Adolescent , Malnutrition , Body Mass Index , Cohort Studies , Body Composition
4.
Chem Biol Interact ; 396: 111064, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38768772

ABSTRACT

Flavonoids are considered as health-protecting food constituents. The testing of their biological effects is however hampered by their low oral absorption and complex metabolism. In order to investigate the direct effect(s) of unmetabolized flavonoid, a preparation in a biologically friendly solvent for intravenous administration is needed. Isorhamnetin, a natural flavonoid and a human metabolite of the most frequently tested flavonoid quercetin, has very low water solubility (<3.5 µg/mL). The aim of this study was to improve its solubility to enable intravenous administration and to test its pharmacokinetics in an animal model. By using polyvinylpyrrolidone (PVP10) and benzalkonium chloride, we were able to improve the solubility approximately 600 times to 2.1 mg/mL. This solution was then administered intravenously at a dose of 0.5 mg/kg of isorhamnetin to rats and its pharmacokinetics was analyzed. The pharmacokinetics of isorhamnetin corresponded to two compartmental model with a rapid initial distribution phase (t1/2α: 5.7 ± 4.3 min) and a slower elimination phase (t1/2ß: 61 ± 47.5 min). Two sulfate metabolites were also identified. PVP10 and benzalkonium did not modify the properties of isorhamnetin (iron chelation and reduction, and cell penetration) substantially. In conclusion, the novel preparation reported in this study is suitable for future testing of isorhamnetin effects under in vivo conditions.


Subject(s)
Administration, Intravenous , Povidone , Quercetin , Solubility , Water , Animals , Quercetin/pharmacokinetics , Quercetin/analogs & derivatives , Quercetin/administration & dosage , Quercetin/chemistry , Rats , Male , Water/chemistry , Povidone/chemistry , Benzalkonium Compounds/pharmacokinetics , Benzalkonium Compounds/chemistry , Rats, Wistar
5.
JACC Clin Electrophysiol ; 10(5): 829-842, 2024 May.
Article in English | MEDLINE | ID: mdl-38430092

ABSTRACT

BACKGROUND: Sudden unexpected death in epilepsy (SUDEP) is a fatal complication experienced by otherwise healthy epilepsy patients. Dravet syndrome (DS) is an inherited epileptic disorder resulting from loss of function of the voltage-gated sodium channel, NaV 1.1, and is associated with particularly high SUDEP risk. Evidence is mounting that NaVs abundant in the brain also occur in the heart, suggesting that the very molecular mechanisms underlying epilepsy could also precipitate cardiac arrhythmias and sudden death. Despite marked reduction of NaV 1.1 functional expression in DS, pathogenic late sodium current (INa,L) is paradoxically increased in DS hearts. However, the mechanisms by which DS directly impacts the heart to promote sudden death remain unclear. OBJECTIVES: In this study, the authors sought to provide evidence implicating remodeling of Na+ - and Ca2+ -handling machinery, including NaV 1.6 and Na+/Ca2+exchanger (NCX) within transverse (T)-tubules in DS-associated arrhythmias. METHODS: The authors undertook scanning ion conductance microscopy (SICM)-guided patch clamp, super-resolution microscopy, confocal Ca2+ imaging, and in vivo electrocardiography studies in Scn1a haploinsufficient murine model of DS. RESULTS: DS promotes INa,L in T-tubular nanodomains, but not in other subcellular regions. Consistent with increased NaV activity in these regions, super-resolution microscopy revealed increased NaV 1.6 density near Ca2+release channels, the ryanodine receptors (RyR2) and NCX in DS relative to WT hearts. The resulting INa,L in these regions promoted aberrant Ca2+ release, leading to ventricular arrhythmias in vivo. Cardiac-specific deletion of NaV 1.6 protects adult DS mice from increased T-tubular late NaV activity and the resulting arrhythmias, as well as sudden death. CONCLUSIONS: These data demonstrate that NaV 1.6 undergoes remodeling within T-tubules of adult DS hearts serving as a substrate for Ca2+ -mediated cardiac arrhythmias and may be a druggable target for the prevention of SUDEP in adult DS subjects.


Subject(s)
Epilepsies, Myoclonic , NAV1.6 Voltage-Gated Sodium Channel , Animals , Female , Humans , Male , Mice , Arrhythmias, Cardiac/genetics , Calcium/metabolism , Epilepsies, Myoclonic/genetics , Mice, Knockout , Myocytes, Cardiac/metabolism , NAV1.6 Voltage-Gated Sodium Channel/genetics , NAV1.6 Voltage-Gated Sodium Channel/metabolism , Sodium-Calcium Exchanger/genetics , Sodium-Calcium Exchanger/metabolism , Sudden Unexpected Death in Epilepsy
6.
Eur J Case Rep Intern Med ; 11(1): 004110, 2024.
Article in English | MEDLINE | ID: mdl-38223281

ABSTRACT

Q fever is a zoonotic infection caused by the pathogen Coxiella burnetii, and patients can present with a wide spectrum of clinical manifestations, depending on whether it is an acute or a chronic infection. We present the case of a 61-year-old male with fatigue, posterior thoracalgia, intermittent fever, night sweats and weight loss for a month. After an extensive workup, he was diagnosed with acute Q fever with large-vessel vasculitis. The FDG-PET/CT scan suggested an active vasculitis specifically in the thoracic aorta, proximal abdominal aorta, subclavian and carotid vessels, suggesting an immunologic response to acute Q fever infection, barely reported worldwide. LEARNING POINTS: Large-vessel vasculitis is a possible immunologic response to acute Q fever infection.There are few data about the management and treatment of patients with Q fever related large-vessel vasculitis.

7.
BMC Palliat Care ; 22(1): 202, 2023 Dec 18.
Article in English | MEDLINE | ID: mdl-38110974

ABSTRACT

BACKGROUND: The diagnosis of a life-limiting condition of a child in the perinatal or neonatal period is a threat to parental hopes. Hope is an interactional and multidimensional construct, and in palliative care, it is a determinant of quality of life, survival, acceptance and peaceful death. OBJECTIVE: To map scientific evidence on parents' hope in perinatal and neonatal palliative care contexts. METHOD: a scoping review theoretically grounded on Dufault and Martocchio's Framework, following the Joanna Briggs Institute methodological recommendations. Searches were performed until May 2023 in the MEDLINE, CINAHL and PsycINFO databases. The searches returned 1341 studies. RESULTS: Eligible papers included 27 studies, most of which were carried out in the United States under a phenomenological or literature review approach. The centrality of women's perspectives in the context of pregnancy and perinatal palliative care was identified. The parental hope experience is articulated in dealing with the uncertainty of information and diagnosis, an approach to which interaction with health professionals is a determinant and potentially distressful element. Hope was identified as one of the determinants of coping and, consequently, linked to autonomy and parenthood. Cognitive and affiliative dimensions were the hope dimensions that predominated in the results, which corresponded to the parents' ability to formulate realistic goals and meaningful interpersonal relationships, respectively. CONCLUSION: Hope is a force capable of guiding parents along the path of uncertainties experienced through the diagnosis of a condition that compromises their child's life. Health professionals can manage the family's hope by establishing sensitive therapeutic relationships that focus on the dimension of hope. The need for advanced research and intervention in parental and family hope are some of the points made in this study. PROTOCOL REGISTRATION: https://osf.io/u9xr5/ .


Subject(s)
Palliative Care , Quality of Life , Female , Humans , Infant, Newborn , Pregnancy , Interpersonal Relations , Palliative Care/psychology , Parents/psychology , Uncertainty
8.
PeerJ ; 11: e16096, 2023.
Article in English | MEDLINE | ID: mdl-37901462

ABSTRACT

Various medicinal plants find their use in cough treatment, based on traditions and long-term experience. Pharmacological principles of their action, however, are much less known. Herbal drugs usually contain a mixture of potentially active compounds, which can manifest diverse effects. Expectorant or antitussive effects, which can be accompanied by others, such as anti-inflammatory or antibacterial, are probably the most important in the treatment of coughs. The aim of this review is to summarize the current state of knowledge of the effects of medicinal plants or their constituents on cough, based on reliable pharmacological studies. First, a comprehensive description of each effect is provided in order to explain the possible mechanism of action in detail. Next, the results related to individual plants and substances are summarized and critically discussed based on pharmacological in vivo and in vitro investigation.


Subject(s)
Antitussive Agents , Plants, Medicinal , Antitussive Agents/pharmacology , Cough/drug therapy , Expectorants/pharmacology , Phytotherapy , Plant Extracts/pharmacology , Humans
9.
Eur J Med Genet ; 66(11): 104867, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37839784

ABSTRACT

Osteogenesis imperfecta (OI) type VI is an extremely rare form of OI caused by biallelic variants in the SERPINF1 gene, which codes for the pigment-epithelium derived factor (PEDF). We report on four patients (three adults and one adolescent) with a severe deforming form of OI. All patients presented no abnormalities at birth, frequent long bone and vertebrae fractures (mainly during childhood), marked short stature, severe bone deformities, chronic mild to moderate pain, and severe limitation of mobility, with three being completely wheelchair bound. Blue sclera and dentinogenesis imperfecta were absent, although some patients presented tooth, ophthalmological, and/or cardiac features. Radiographic findings included, among others, thin diaphysis and popcorn calcifications, both of which are non-specific to this type of OI. The novel homozygous variants c.816_819del (p.Met272Ilefs*8) and c.283+2T > G in SERPINF1 were identified in three and one patient, respectively. The three patients carrying the frameshift variant were born in nearby regions suggesting a founder effect. Describing the long-term outcomes of four patients with OI type VI, this cohort adds relevant data on the clinical features and prognosis of this type of OI.


Subject(s)
Osteogenesis Imperfecta , Serpins , Adolescent , Adult , Humans , Infant, Newborn , Collagen Type I/genetics , Frameshift Mutation , Homozygote , Osteogenesis Imperfecta/genetics , Serpins/genetics
10.
Rev Bras Enferm ; 76(3): e20220476, 2023.
Article in English, Portuguese | MEDLINE | ID: mdl-37377316

ABSTRACT

OBJECTIVES: to present a theoretical model for the interactional context of health professionals and families of children and adolescents under palliative care. METHODS: qualitative study based on the theoretical frameworks of Grounded Theory and Symbolic Interactionism. Ten palliative care professionals took part in this study through semi-structured interviews employing snowball technique from 2020 to 2021. RESULTS: the comparative data analysis resulted in the theoretical model "Searching for human connection to transcend symbolisms in pediatric palliative care". It reveals symbolic elements that substantiate the construction of a collaborative context integrating two phenomena: "Overcoming boundaries and intertwining paths" and "Embracing suffering to weave meaningful experiences". Symbolisms in palliative care guide the behavior of families and professionals, which makes them the key factor to be managed. FINAL CONSIDERATIONS: symbolisms and suffering continually integrate the interactional experience of professionals. Empathy and compassion are fundamental elements to enable their connection with families.


Subject(s)
Empathy , Palliative Care , Adolescent , Humans , Child , Palliative Care/methods , Qualitative Research , Health Personnel , Symbolism
11.
Biomedicines ; 11(4)2023 Mar 27.
Article in English | MEDLINE | ID: mdl-37189640

ABSTRACT

Chronic pain is an important cause of disability with a high burden to society. Quantitative sensory testing (QST) is a noninvasive multimodal method used to discriminate the function of nerve fibers. The aim of this study is to propose a new, reproducible, and less time-consuming thermal QST protocol to help characterize and monitor pain. Additionally, this study also compared QST outcomes between healthy and chronic pain subjects. Forty healthy young/adult medical students and fifty adult/elderly chronic pain patients were evaluated in individual sessions including pain history, followed by QST assessments divided into three proposed tests: pain threshold, suprathreshold, and tonic pain. In the chronic pain group, a significantly higher pain threshold (hypoesthesia) and a higher pain sensibility (hyperalgesia) were demonstrated at threshold temperature when compared to healthy participants. The sensitivity to the suprathreshold and tonic stimulus did not prove to be significantly different between both groups. The main results demonstrated that the heat threshold QST tests can be helpful in evaluating hypoesthesia and that the sensitivity threshold temperature test can demonstrate hyperalgesia in individuals with chronic pain. In conclusion, this study demonstrates the importance of using tools such as QST as a complement to detect changes in several pain dimensions.

12.
PLoS One ; 18(5): e0284399, 2023.
Article in English | MEDLINE | ID: mdl-37141259

ABSTRACT

INTRODUCTION: Experimental Human Pneumococcal Challenge (EHPC) involves the controlled exposure of adults to a specific antibiotic-sensitive Streptococcus pneumoniae serotype, to induce nasopharyngeal colonisation for the purpose of vaccine research. The aims are to review comprehensively the safety profile of EHPC, explore the association between pneumococcal colonisation and frequency of safety review and describe the medical intervention required to undertake such studies. METHODS: A single-centre review of all EHPC studies performed 2011-2021. All recorded serious adverse events (SAE) in eligible studies are reported. An unblinded meta-analysis of collated anonymised individual patient data from eligible EHPC studies was undertaken to assess the association between experimental pneumococcal colonisation and the frequency of safety events following inoculation. RESULTS: In 1416 individuals (median age 21, IQR 20-25), 1663 experimental pneumococcal inoculations were performed. No pneumococcal-related SAE have occurred. 214 safety review events were identified with 182 (12.85%) participants presenting with symptoms potentially in keeping with pneumococcal infection, predominantly in pneumococcal colonised individuals (colonised = 96/658, non-colonised = 86/1005, OR 1.81 (95% CI 1.28-2.56, P = <0.001). The majority were mild (pneumococcal group = 72.7% [120/165 reported symptoms], non-pneumococcal = 86.7% [124/143 reported symptoms]). 1.6% (23/1416) required antibiotics for safety. DISCUSSION: No SAEs were identified directly relating to pneumococcal inoculation. Safety review for symptoms was infrequent but occurred more in experimentally colonised participants. Most symptoms were mild and resolved with conservative management. A small minority required antibiotics, notably those serotype 3 inoculated. CONCLUSION: Outpatient human pneumococcal challenge can be conducted safely with appropriate levels of safety monitoring procedures in place.


Subject(s)
Pneumococcal Infections , Streptococcus pneumoniae , Adult , Humans , Young Adult , Pneumococcal Infections/prevention & control , Pneumococcal Vaccines/adverse effects , Nasopharynx , Anti-Bacterial Agents/adverse effects
13.
Transfusion ; 63(6): 1129-1140, 2023 06.
Article in English | MEDLINE | ID: mdl-37102357

ABSTRACT

BACKGROUND: Robust evidence to inform best transfusion management after major oncologic surgery, where postoperative recovery might impact treatment regimens for cancer, is lacking. We conducted a study to validate the feasibility of a larger trial comparing liberal versus restrictive red blood cells (RBC) transfusion strategies after major oncologic surgery. STUDY DESIGN AND METHODS: This was a two-center, randomized, controlled, study of patients admitted to the intensive care unit after major oncologic surgery. Patients whose hemoglobin level dropped below 9.5 g/dL, were randomly assigned to immediately receive a 1-unit RBC transfusion (liberal) or delayed until the hemoglobin level dropped below 7.5 g/dL (restrictive). The primary outcome was the median hemoglobin level between randomization to day 30 post-surgery. Disability-free survival was evaluated by the WHODAS 2.0 questionnaire. RESULTS: 30 patients were randomized (15 patients/group) in 15 months with a mean recruitment rate of 1.8 patients per month. The median hemoglobin level was significantly higher in the liberal group than in the restrictive group: 10.1 g/dL (IQR 9.6-10.5) versus 8.8 g/dL (IQR 8.3-9.4), p < .001, and RBC transfusion rates were 100% versus 66.7%, p = .04. The disability-free survival was similar between groups: 26.7% versus 20%, p = 1. DISCUSSION: Our results support the feasibility of a phase 3 randomized controlled trial comparing the impact of liberal versus restrictive transfusion strategies on the functional recovery of critically ill patients following major oncologic surgery.


Subject(s)
Blood Transfusion , Hemoglobins , Humans , Pilot Projects , Hemoglobins/analysis , Erythrocyte Transfusion/methods , Intensive Care Units
15.
Chemosphere ; 313: 137565, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36528156

ABSTRACT

The human population is regularly exposed to bisphenols. The first compound of this class, bisphenol A, is burdened by numerous reports of its potential toxicity and has been hence replaced by its analogues, so-called next generation bisphenols. Their widespread use has made them pervasive throughout the environment. These endocrine disrupting chemicals can affect the cardiovascular system, and hence the aim of this study was to test 14 bisphenols (A, AF, AP, B, BP, C, E, F, G, M, P, PH, S and Z), and compare their effects in vitro (human and rat cell lines), ex vivo (isolated rat aorta) and in vivo (Wistar Han rats, acutely or chronically exposed to low environmental and high toxic doses). The majority of the tested bisphenols relaxed rat aorta, but their potency varied markedly. The most potent compound, bisphenol AF, had an EC50 of 57 µM. The mechanism of action was likely based on the inhibition of calcium influx via L-type calcium channels. The cytotoxicity of bisphenols towards 4 human and rat cell lines (H9c2, A-10, MCF7/S0.5 and MCF7/182R-6) showed variable potencies ranging from units of micromolar to millimolar concentrations. Based on these data, an effect on arterial blood pressure and possible cardiotoxicity was expected. Contrarily, the in vivo acute effects of three doses (0.005, 0.05 and 2.5 mg/kg) of bisphenol AF and 3 other analogues (A, S and F) on the cardiovascular system were rather biologically negligible. The most potent bisphenol, AF, was also administered chronically at a dose of 2.5 mg/kg for 4 weeks to rats, but had no impact on arterial blood pressure. Our results showed that bisphenols can relax vascular smooth muscles, but the effective concentrations are too high to produce clear cardiovascular effects in relation to common biological exposure as was confirmed with the most potent bisphenol AF.


Subject(s)
Benzhydryl Compounds , Cardiovascular System , Humans , Rats , Animals , Rats, Wistar , Benzhydryl Compounds/toxicity , Benzhydryl Compounds/metabolism
16.
Hum Mol Genet ; 32(9): 1429-1438, 2023 04 20.
Article in English | MEDLINE | ID: mdl-36440975

ABSTRACT

Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies. The ANKRD11 gene encodes the ankyrin repeat-containing protein 11A transcriptional regulator, which is expressed in the brain and implicated in neural development. Syndromic conditions caused by pathogenic variants in epigenetic regulatory genes show unique patterns of DNA methylation (DNAm) in peripheral blood, termed DNAm signatures. Given ANKRD11's role in chromatin modification, we tested whether pathogenic ANKRD11 variants underlying KBGS are associated with a DNAm signature. We profiled whole-blood DNAm in 21 individuals with ANKRD11 variants, 2 individuals with microdeletions at 16q24.3 and 28 typically developing individuals, using Illumina's Infinium EPIC array. We identified 95 differentially methylated CpG sites that distinguished individuals with KBGS and pathogenic variants in ANKRD11 (n = 14) from typically developing controls (n = 28). This DNAm signature was then validated in an independent cohort of seven individuals with KBGS and pathogenic ANKRD11 variants. We generated a machine learning model from the KBGS DNAm signature and classified the DNAm profiles of four individuals with variants of uncertain significance (VUS) in ANKRD11. We identified an intermediate classification score for an inherited missense variant transmitted from a clinically unaffected mother to her affected child. In conclusion, we show that the DNAm profiles of two individuals with 16q24.3 microdeletions were indistinguishable from the DNAm profiles of individuals with pathogenic variants in ANKRD11, and we demonstrate the diagnostic utility of the new KBGS signature by classifying the DNAm profiles of individuals with VUS in ANKRD11.


Subject(s)
Abnormalities, Multiple , Repressor Proteins , Child , Female , Humans , Abnormalities, Multiple/blood , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Bone Diseases, Developmental/blood , Bone Diseases, Developmental/diagnosis , Bone Diseases, Developmental/genetics , Chromosome Deletion , DNA Methylation/genetics , Epigenesis, Genetic/genetics , Facies , Intellectual Disability/blood , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Machine Learning , Mutation , Phenotype , Repressor Proteins/genetics , Tooth Abnormalities/blood , Tooth Abnormalities/diagnosis , Tooth Abnormalities/genetics , Transcription Factors/genetics
18.
Int J Prison Health ; 19(2): 143-156, 2023 May 10.
Article in English | MEDLINE | ID: mdl-38899623

ABSTRACT

PURPOSE: This study aims to estimate the overall SARS-CoV-2 seroprevalence and evaluate the accuracy of an antibody rapid test compared to a reference serological assay during a COVID-19 outbreak in a prison complex housing over 13,000 prisoners in Brasília. DESIGN/METHODOLOGY/APPROACH: The authors obtained a randomized, stratified representative sample of each prison unit and conducted a repeated serosurvey among prisoners between June and July 2020, using a lateral-flow immunochromatographic assay (LFIA). Samples were also retested using a chemiluminescence enzyme immunoassay (CLIA) to compare SARS-CoV-2 seroprevalence and 21-days incidence, as well as to estimate the overall infection fatality rate (IFR) and determine the diagnostic accuracy of the LFIA test. FINDINGS: This study identified 485 eligible individuals and enrolled 460 participants. Baseline and 21-days follow-up seroprevalence were estimated at 52.0% (95% CI 44.9-59.0) and 56.7% (95% CI 48.2-65.3) with LFIA; and 80.7% (95% CI 74.1-87.3) and 81.1% (95% CI 74.4-87.8) with CLIA, with an overall IFR of 0.02%. There were 78.2% (95% CI 66.7-89.7) symptomatic individuals among the positive cases. Sensitivity and specificity of LFIA were estimated at 43.4% and 83.3% for IgM; 46.5% and 91.5% for IgG; and 59.1% and 77.3% for combined tests. ORIGINALITY/VALUE: The authors found high seroprevalence of anti-SARS-CoV-2 antibodies within the prison complex. The occurrence of asymptomatic infection highlights the importance of periodic mass testing in addition to case-finding of symptomatic individuals; however, the field performance of LFIA tests should be validated. This study recommends that vaccination strategies consider the inclusion of prisoners and prison staff in priority groups.

19.
Rev. bras. enferm ; 76(3): e20220476, 2023. graf
Article in English | LILACS-Express | LILACS, BDENF - Nursing | ID: biblio-1449647

ABSTRACT

ABSTRACT Objectives: to present a theoretical model for the interactional context of health professionals and families of children and adolescents under palliative care. Methods: qualitative study based on the theoretical frameworks of Grounded Theory and Symbolic Interactionism. Ten palliative care professionals took part in this study through semi-structured interviews employing snowball technique from 2020 to 2021. Results: the comparative data analysis resulted in the theoretical model "Searching for human connection to transcend symbolisms in pediatric palliative care". It reveals symbolic elements that substantiate the construction of a collaborative context integrating two phenomena: "Overcoming boundaries and intertwining paths" and "Embracing suffering to weave meaningful experiences". Symbolisms in palliative care guide the behavior of families and professionals, which makes them the key factor to be managed. Final Considerations: symbolisms and suffering continually integrate the interactional experience of professionals. Empathy and compassion are fundamental elements to enable their connection with families.


RESUMEN Objetivos: presentar un modelo teórico sobre el contexto interaccional entre los profesionales de la salud y las familias de niños y adolescentes en cuidados paliativos. Métodos: estudio cualitativo bajo la Teoría Fundamentada en los Datos y el Interaccionismo Simbólico. Participaron diez profesionales activos en cuidados paliativos, a través de entrevistas semiestructuradas, con base en la técnica de "bola de nieve", entre los años 2020 y 2021. Resultados: el análisis comparativo de los datos resultó en el modelo teórico 'Buscando la conexión humana para trascender simbolismos de los cuidados paliativos pediátricos'. Evidencia los elementos simbólicos que apoyan la construcción del contexto colaborativo integrando dos fenómenos: 'Rompiendo fronteras y entrelazando caminos' y 'Acogiendo el sufrimiento para tejer experiencias de vida significativas'. Los simbolismos de los cuidados paliativos guían los comportamientos de las familias y los profesionales, constituyendo el principal factor a ser manejado. Consideraciones Finales: el simbolismo y el sufrimiento son continuamente parte de la experiencia de interacción del profesional. La empatía y la compasión son elementos fundamentales para su conexión con las familias.


RESUMO Objetivos: apresentar um modelo teórico sobre o contexto interacional entre profissionais de saúde e famílias de crianças e adolescentes em cuidados paliativos. Métodos: estudo qualitativo sob os referenciais da Teoria Fundamentada nos Dados e Interacionismo Simbólico. Participaram dez profissionais atuantes em cuidado paliativo, por meio de entrevista semiestruturada, a partir da técnica "bola de neve", entre os anos 2020 e 2021. Resultados: a análise comparativa dos dados resultou no modelo teórico 'Buscando por conexão humana para transcender simbolismos do cuidado paliativo pediátrico'. Evidencia elementos simbólicos que sustentam a construção do contexto colaborativo integrando dois fenômenos: 'Rompendo fronteiras e entrelaçando caminhos' e 'Acolhendo o sofrimento para tecer experiências de vida significativas'. Simbolismos dos cuidados paliativos orientam comportamentos das famílias e profissionais, constituindo-se no principal interveniente a ser manejado. Considerações Finais: simbolismos e sofrimento integram continuamente a experiência interacional do profissional. Empatia e compaixão são elementos fundamentais para sua conexão com as famílias.

20.
Rev. baiana enferm ; 37: e52248, 2023. tab
Article in Portuguese | LILACS, BDENF - Nursing | ID: biblio-1529684

ABSTRACT

Objetivos: realizar tradução, adaptação cultural e validação de conteúdo e aparência do instrumento Practice Standards for Nurses Providing Pediatric Cancer Care in Atlantic Canada para o português do Brasil. Método: trata-se de um estudo de tradução, adaptação cultural e validação de conteúdo e aparência de instrumento. Participaram 8 profissionais no comitê de juízes. Resultados: houve a necessidade de adequar a semântica e correções gramaticais com a versão aprovada pela Associação Canadense de Enfermeiros em Oncologia. Adotou-se o Índice de Validade de Conteúdo. Foram realizadas três rodadas para atingir o Índice de Validade de Conteúdo ?0,8 em 100% dos itens: primeira 233 itens (96%), segunda 9 itens (90%), terceira rodada 1 item. No pré-teste obteve-se 100% de compreensão. Conclusão: a versão traduzida do instrumento original está adequada para utilização no Brasil.


Objetivos: realizar traducción, adaptación cultural y validación de contenido y apariencia del instrumento "Practice Standards for Nurses Providing Pediatric Cancer Care in Atlantic Canada" para el portugués de Brasil. Método: se trata de un estudio de traducción, adaptación cultural y validación de contenido y apariencia de instrumento. Participaron 8 profesionales en el comité de jueces. Resultados: hubo la necesidad de adecuar la semántica y correcciones gramaticales con la versión aprobada por la Asociación Canadiense de Enfermeros en Oncología. Se adoptó el Índice de Validez de Contenido. Se realizaron tres rondas para alcanzar el Índice de Validez de Contenido ?0,8 en el 100% de los ítems: primera 233 ítems (96%), segunda 9 ítems (90%), tercera ronda 1 ítem. En el pre-test se obtuvo 100% de comprensión. Conclusión: la versión traducida del instrumento original está adecuada para su uso en Brasil.


Objective: to perform translation, cultural adaptation and validation of content and appearance of the instrument "Practice Standards for Nurses Providing Pediatric Cancer Care in Atlantic Canada" into Brazilian Portuguese. Method: this is a study of translation, cultural adaptation and validation of content and appearance of instrument. Eight professionals participated in the committee of judges. Results: there was a need to adapt the semantics and grammatical corrections with the version approved by the Canadian Association of Nurses in Oncology. The Content Validity Index was adopted. Three rounds were performed to achieve the Content Validity Index ?0.8 in 100% of items: first 233 items (96%), second 9 items (90%), third round 1 item. In the pre-test, 100% comprehension was obtained. Conclusion: the translated version of the original instrument is suitable for use in Brazil.


Subject(s)
Humans , Male , Female , Pediatric Nursing , Professional Competence , Nursing/methods , Validation Study
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