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1.
Data Brief ; 56: 110808, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39263232

ABSTRACT

Candida parapsilosis and Rhodotorula mucilaginosa are opportunistic pathogens affecting mostly immunocompromised hosts. Both species have emerged as causes of invasive candidiasis and sepsis respectively. Here we present high-quality long-read genome assemblies for a strain of C. parapsilosis isolated from human breast milk, with multiple predicted signatures consistent with Candida Drug Resistance CDR1/CDR2 and Multi Drug Resistance MDR1-type genes, also for an environmental strain of R. mucilaginosa with multiresistance to azole antifungals. The genome sequencing was performed using the R9.4.1 flowcell with the MinION Mk1B sequencer (Oxford Nanopore Technologies, Oxford, UK). The draft genome of C. parapsilosis HMC1 was assembled from 85,745 long-reads and has 13,114,208 bp in length and comprises 10 contigs making it a highly contiguous assembly. The R. mucilaginosa LBMH1012 assembly has 23,636,156 bp in length and comprises 54 contigs. The genome completeness was estimated as 94.02 % and 91.40 % respectively using BUSCO. These data may be useful to explore the genetic diversity landscape in both species, infer potential causal genes for antifungal resistance and virulence, and represent an addition to the useful sequence space on emerging fungal pathogens.

2.
Hum Vaccin Immunother ; 20(1): 2365804, 2024 Dec 31.
Article in English | MEDLINE | ID: mdl-39137331

ABSTRACT

Respiratory syncytial virus (RSV) is the main cause of low respiratory tract infections in infants under one year of age. In the 2023/2024 season, the monoclonal antibody nirsevimab was available to protect children from RSV, and Spain has become one of the first countries worldwide to implement this strategy. It is essential to evaluate the results of this first campaign and different characteristics of the immunized population in order to plan next campaigns, especially for countries that are going to include this immunization. Our coverage was high (91.5% for those born during the season and 88.3% globally). For those born during the season, only 4.9% preferred not to immunize at the maternity hospital, which meant an average delay of 27.45 days. We observed a lower coverage in the population of immigrant origin. There was a rapid pace of immunization, since for those born before the beginning of the campaign the mean to be immunized was 15.63 days, without differences between healthy and at-risk children. This allows immunization before the RSV season (90% of the catch-up children had been immunized on November 3). The average age at which all the immunized children have received nirsevimab was lower in healthy children compared to those with risk conditions (49.65 versus 232.85 days). For those born during the campaign, the average age was also lower in healthy children (3.14 versus 14.58 days). In conclusion, we consider that the implementation of the immunization strategy with nirsevimab in the Region of Murcia, Spain, has been a success.


Subject(s)
Respiratory Syncytial Virus Infections , Humans , Spain , Respiratory Syncytial Virus Infections/prevention & control , Infant , Female , Male , Immunization Programs , Antibodies, Monoclonal, Humanized/therapeutic use , Antibodies, Monoclonal, Humanized/administration & dosage , Infant, Newborn , Respiratory Syncytial Virus, Human/immunology , Respiratory Syncytial Virus Vaccines/immunology , Respiratory Syncytial Virus Vaccines/administration & dosage
3.
J Pers Med ; 14(8)2024 Aug 22.
Article in English | MEDLINE | ID: mdl-39202082

ABSTRACT

BACKGROUND: Stroke survivors experience significant alterations in their daily functionality that has a negative impact on their functionality, participation, and quality of life. Person-centered approaches in Physical Therapy interventions that are focused on functional and meaningful goals help to minimize the impact of the alterations. Therefore, the aim of this study is to assess the effectiveness of a Physical Therapy intervention based on a goal-oriented approach with task-specific training for improving functionality, participation, and quality of life for people with Stroke. METHODS: A single-blinded randomized controlled clinical trial will be developed. Adults over 50 years old diagnosed with Stroke over 6 months will be included in this study. Participants (n = 62) will be randomly allocated into two groups: The experimental group (n = 31) will receive 30 sessions, three per week during 10 weeks, of Physical Therapy sessions of goal-directed and task-specific training. The control group (n = 31) will follow the same intervention intensity of their usual Physical Therapy treatment. The primary outcome variables quality of life (NewsQol), participation (Ox-PAQ), and gait functionality (FAC) and the secondary outcome variables functional disability (BI), postural control (PASS), dynamic trunk balance (TIS), and functional goals (GAS) will be measured at baseline, after group interventions (10 weeks), and 6 months after the baseline. Statistical analyses will include repeated-measures ANOVA, Student's t-test, or the Mann-Whitney U-test, with a 95% confidence interval and significance level of p < 0.05. CONCLUSION: Person-centered approaches in Physical Therapy interventions may yield better outcomes in functionality, participation, and quality of life for Stroke patients compared to standardized interventions. TRIAL REGISTRATION: ClinicalTrials.gov: NCT06165666 (December 2023).

4.
J Pediatr Nurs ; 79: 52-58, 2024 Aug 27.
Article in English | MEDLINE | ID: mdl-39197260

ABSTRACT

PURPOSE: To evaluate the influence of viewing the Olfatín Project video on the assessment of school LAIV-associated pain in three and four-year-old children through the Wong Baker Faces® pain classification scale. DESIGN AND METHODS: A three-arm randomized multicenter clinical trial with a placebo control group was carried out. The main variable measured was pain, assessed through the score on the Wong Baker Faces® Pain Rating Scale. There were a total population of 4591 children three and four-year-olds (born in 2019 and 2020) and who attended the 1st and 2nd year of early childhood education. Before the school vaccination, researchers randomly assigned participant schools corresponding to each of the basic health areas to each of the three study groups: Olfatín's video viewing, a control video viewing not related to influenza and no video viewing. RESULTS: No significant differences according to sex, age or the minor's grade according to the assigned intervention were detected. 72.3% of those vaccinated assigned a 0 from the Wong Baker Faces® scale: 75.4% of those who watched Olfatín's video, 68.3% for those in Drilo's group and 72.8% for those who didn't watch any video, but without significant differences (p = 0.08). There were no significant differences either stratifying by sex. CONCLUSION: LAIV is a painless vaccine for children, which has to be taken into account by the health authorities when planning the pediatric influenza vaccination campaign. PRACTICE IMPLICATIONS: Olfatín's cartoon video can be used by professionals to create a greater experience for children and therefore a better acceptance.

5.
Am Nat ; 204(2): 133-146, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39008835

ABSTRACT

AbstractInfectious disease dynamics operate across biological scales: pathogens replicate within hosts but transmit among populations. Functional changes in the pathogen-host interaction thus generate cascading effects across organizational scales. We investigated within-host dynamics and among-host transmission of three strains (SAT-1, -2, -3) of foot-and-mouth disease viruses (FMDVs) in their wildlife host, African buffalo. We combined data on viral dynamics and host immune responses with mathematical models to ask the following questions: How do viral and immune dynamics vary among strains? Which viral and immune parameters determine viral fitness within hosts? And how do within-host dynamics relate to virus transmission? Our data reveal contrasting within-host dynamics among viral strains, with SAT-2 eliciting more rapid and effective immune responses than SAT-1 and SAT-3. Within-host viral fitness was overwhelmingly determined by variation among hosts in immune response activation rates but not by variation among individual hosts in viral growth rate. Our analyses investigating across-scale linkages indicate that viral replication rate in the host correlates with transmission rates among buffalo and that adaptive immune activation rate determines the infectious period. These parameters define the virus's relative basic reproductive number (ℛ0), suggesting that viral invasion potential may be predictable from within-host dynamics.


Subject(s)
Buffaloes , Foot-and-Mouth Disease Virus , Foot-and-Mouth Disease , Animals , Buffaloes/virology , Foot-and-Mouth Disease Virus/immunology , Foot-and-Mouth Disease Virus/growth & development , Foot-and-Mouth Disease/transmission , Foot-and-Mouth Disease/virology , Foot-and-Mouth Disease/immunology , Host-Pathogen Interactions/immunology , Virus Replication , Models, Biological
6.
Influenza Other Respir Viruses ; 18(6): e13331, 2024 Jun.
Article in English | MEDLINE | ID: mdl-39031876

ABSTRACT

BACKGROUND: During the 2022-23 season, three autonomous communities recommended influenza vaccination for all children between 6 and 59 months. The objective is to evaluate the adverse effects associated with the administered influenza vaccines in the Region of Murcia, as well as their influence on the recommendation of the same to acquaintances or repetition in future seasons. MATERIAL AND METHODS: Cross-sectional descriptive study with an online questionnaire sent to the parents of vaccinated minors of 6-23 months of age receiving inactivated intramuscular vaccine (IIV) or 24-59 months of age receiving live-attenuated intranasal vaccine (LAIV). RESULTS: Among 4971 surveys received, the most common adverse effect for LAIV and IIV was runny nose (40.90%) and local pain (31.94%), respectively. Sixty percent of adverse effects lasted ≤ 1 day, and around 10% lasted ≥ 3 days. The interference of adverse effects with the minor's daily life was very infrequent (3.32%), as was the need for visiting the medical office (2.68%). Overall, 96.44% of parents would recommend influenza vaccination to friends and relatives after the experience. Only 3.56% would not recommend it, while 1.68% would not vaccinate their child against influenza again. The most frequently cited reason being adverse effects. CONCLUSIONS: Our study shows the safety of influenza vaccines. Despite the low impact of adverse effects, they influence some parents in their intention to continue vaccinating or recommending it to acquaintances, which remarks the need to reinforce the information given to parents so that this fact does not influence decision-making.


Subject(s)
Influenza Vaccines , Influenza, Human , Parents , Vaccination , Humans , Influenza Vaccines/adverse effects , Influenza Vaccines/administration & dosage , Spain , Cross-Sectional Studies , Infant , Male , Influenza, Human/prevention & control , Female , Child, Preschool , Surveys and Questionnaires , Vaccination/statistics & numerical data , Vaccination/psychology , Parents/psychology , Vaccination Hesitancy/statistics & numerical data , Vaccination Hesitancy/psychology , Vaccines, Inactivated/adverse effects , Vaccines, Inactivated/administration & dosage , Vaccines, Attenuated/adverse effects , Vaccines, Attenuated/administration & dosage , Patient Acceptance of Health Care/statistics & numerical data
7.
J R Stat Soc Ser C Appl Stat ; 73(3): 658-681, 2024 Jun.
Article in English | MEDLINE | ID: mdl-39072300

ABSTRACT

We consider unsupervised classification by means of a latent multinomial variable which categorizes a scalar response into one of the L components of a mixture model which incorporates scalar and functional covariates. This process can be thought as a hierarchical model with the first level modelling a scalar response according to a mixture of parametric distributions and the second level modelling the mixture probabilities by means of a generalized linear model with functional and scalar covariates. The traditional approach of treating functional covariates as vectors not only suffers from the curse of dimensionality, since functional covariates can be measured at very small intervals leading to a highly parametrized model, but also does not take into account the nature of the data. We use basis expansions to reduce the dimensionality and a Bayesian approach for estimating the parameters while providing predictions of the latent classification vector. The method is motivated by two data examples that are not easily handled by existing methods. The first example concerns identifying placebo responders on a clinical trial (normal mixture model) and the other predicting illness for milking cows (zero-inflated mixture of the Poisson model).

8.
Vaccines (Basel) ; 12(6)2024 May 31.
Article in English | MEDLINE | ID: mdl-38932329

ABSTRACT

In the 2022-2023 influenza season, three autonomous communities anticipated the document approved by the Public Health Commission recommending influenza vaccination for all children aged 6 to 59 months. The primary objective of this study was to evaluate the attitude of healthcare professionals towards the first universal vaccination campaign in our region, as well as the acceptability of the vaccines used and their attitude towards pilot school vaccination. This was a cross-sectional, survey-based, descriptive study. All healthcare professionals involved in the campaign were invited to participate. Overall, 91.9% of surveyed professionals thought that influenza vaccination from 6 to 59 months was important or very important, and 89.8% had previous experience regarding the intramuscular vaccine. Healthcare professionals rated the intranasal vaccine significantly more positively, but there were no differences when asking about each vaccine without comparison. The inhaled vaccine was preferred by 97.5% for the following campaign. Pilot school vaccination had a 75% acceptance rate. The inhaled vaccine was preferred by most professionals, and pilot school vaccination was highly accepted and independently associated with the importance of vaccination as considered by physicians, being a medical doctor, and participation in the pilot programme.

9.
Hum Vaccin Immunother ; 20(1): 2357439, 2024 Dec 31.
Article in English | MEDLINE | ID: mdl-38857859

ABSTRACT

Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections in young children and associated with most bronchiolitis- and pneumonia-related hospitalizations. A new preventive monoclonal antibody (MAb), nirsevimab, has been launched in the United States, Luxembourg, and France, and was recently approved to be given in a population-based manner throughout Spain. This study aimed to have a first pre-immunization insight into the Spanish parental knowledge about bronchiolitis, RSV, and nirsevimab immunization. Parents in Murcia with children <2 years of age up to the date of September 1, 2023, were selected to complete a questionnaire. The primary endpoint was the parental knowledge about bronchiolitis, RSV, and nirsevimab. A total of 3,217 responses were analyzed. The majority (95.8%) were aware of bronchiolitis. Meanwhile, 46.6% of the respondents knew about RSV, most of them only after the first child's birth. Information about RSV or bronchiolitis was mainly obtained from family members, with only 4.8% reporting having been informed by Health care Professionals (HCPs). Only 11.2% of respondents were aware of nirsevimab. Nonetheless, these were not entirely satisfied with the information received (score of 3.3 out of 5) and shared that HCPs should be the primary source of information. The present survey then highlights the need for better and more efficient educational strategies directed to all parents/legal guardians. It also sheds some light on the different factors that should be considered to improve awareness of RSV immunization to decrease its burden in Spain and beyond.


Subject(s)
Health Knowledge, Attitudes, Practice , Immunization Programs , Parents , Respiratory Syncytial Virus Infections , Humans , Spain , Respiratory Syncytial Virus Infections/prevention & control , Parents/psychology , Female , Male , Infant , Surveys and Questionnaires , Adult , Respiratory Syncytial Virus, Human/immunology , Bronchiolitis/prevention & control , Antibodies, Monoclonal, Humanized/therapeutic use , Middle Aged , Young Adult , Infant, Newborn
10.
Nutrients ; 16(11)2024 May 21.
Article in English | MEDLINE | ID: mdl-38892486

ABSTRACT

BACKGROUND: A nationwide, prospective, multicenter, cohort study (the Disease-Related caloric-protein malnutrition EChOgraphy (DRECO) study) was designed to assess the usefulness of ultrasound of the rectus femoris for detecting sarcopenia in hospitalized patients at risk of malnutrition and to define cut-off values of ultrasound measures. METHODS: Patients at risk of malnutrition according to the Malnutrition Universal Screening Tool (MUST) underwent handgrip dynamometry, bioelectrical impedance analysis (BIA), a Timed Up and Go (TUG) test, and rectus femoris ultrasound studies. European Working Group on Sarcopenia in Older People (EWGSOP2) criteria were used to define categories of sarcopenia (at risk, probable, confirmed, severe). Receiver operating characteristic (ROC) and area under the curve (AUC) analyses were used to determine the optimal diagnostic sensitivity, specificity, and predictive values of cut-off points of the ultrasound measures for the detection of risk of sarcopenia and probable, confirmed, and severe sarcopenia. RESULTS: A total of 1000 subjects were included and 991 of them (58.9% men, mean age 58.5 years) were evaluated. Risk of sarcopenia was detected in 9.6% patients, probable sarcopenia in 14%, confirmed sarcopenia in 9.7%, and severe sarcopenia in 3.9%, with significant differences in the distribution of groups between men and women (p < 0.0001). The cross-sectional area (CSA) of the rectus femoris showed a significantly positive correlation with body cell mass of BIA and handgrip strength, and a significant negative correlation with TUG. Cut-off values were similar within each category of sarcopenia, ranging between 2.40 cm2 and 3.66 cm2 for CSA, 32.57 mm and 40.21 mm for the X-axis, and 7.85 mm and 10.4 mm for the Y-axis. In general, these cut-off values showed high sensitivities, particularly for the categories of confirmed and severe sarcopenia, with male patients also showing better sensitivities than women. CONCLUSIONS: Sarcopenia in hospitalized patients at risk of malnutrition was high. Cut-off values for the better sensitivities and specificities of ultrasound measures of the rectus femoris are established. The use of ultrasound of the rectus femoris could be used for the prediction of sarcopenia and be useful to integrate nutritional study into real clinical practice.


Subject(s)
Malnutrition , Quadriceps Muscle , Sarcopenia , Ultrasonography , Humans , Male , Sarcopenia/diagnostic imaging , Sarcopenia/diagnosis , Sarcopenia/etiology , Female , Ultrasonography/methods , Middle Aged , Prospective Studies , Aged , Quadriceps Muscle/diagnostic imaging , Malnutrition/diagnosis , Nutritional Status , Hand Strength , Nutrition Assessment , Electric Impedance , ROC Curve , Sensitivity and Specificity , Risk Factors , Geriatric Assessment/methods
11.
Eur J Pediatr ; 183(9): 3885-3895, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38896274

ABSTRACT

The assessment of body fat of children in primary care requires consideration of the dynamic changes in height, weight, lean mass, and fat mass during childhood growth. To achieve this, we aim to develop a predictive equation based on anthropometric values, with optimal diagnostic utility. This is a cross-sectional observational study, involving schoolgoers aged 11-17 years in the Vigo metropolitan area. Out of 10,747 individuals, 577 were randomly recruited. VARIABLES: age, sex, ethnicity/country of origin, weight, height, 8 skinfolds, 3 diameters, 7 perimeters, and 85% percentile of body fat mass as the gold standard. Generalized additive regression was selected by cross-validation and compared using receiver operating characteristic curves (ROC curves). Sensitivity, specificity, positive and negative predictive values, true positive and true negative values, false positive and false negative values, accuracy, and positive and negative likelihood ratios were calculated. Two models were identified. The optimal model includes sex, weight, height, leg perimeter, and arm perimeter, with sensitivity of 0.93 (0.83-1.00), specificity of 0.91 (0.83-0.96), accuracy of 0.91 (0.84-0.96), and area under the curve (AUC) of 0.957 (0.928-0.986). The second model includes sex, age, and body mass index, with sensitivity of 0.93 (0.81-1.00), specificity of 0.90 (0.80-0.97), accuracy of 0.90 (0.82-0.96), and an AUC of 0.944 (0.903-0.984). CONCLUSION: Two predictive models, with the 85th percentile of fat mass as the gold standard, built with basic anthropometric measures, show very high diagnostic utility parameters. Their calculation is facilitated by a complementary online calculator. WHAT IS KNOWN: • In routine clinical practice, mainly in primary care, BMI is used to determine overweight and obesity. This index has its weaknesses in the assessment of children. WHAT IS NEW: • We provide a calculator whose validated algorithm, through the determination of fat mass by impedanciometry, makes it possible to determine the risk of overweight and obesity in the community setting, through anthropometric measurements, providing a new practical, accessible and reliable model that improves the classification of overweight and obesity in children with respect to that obtained by determining BMI.


Subject(s)
Pediatric Obesity , Humans , Adolescent , Child , Male , Female , Cross-Sectional Studies , Spain/epidemiology , Pediatric Obesity/diagnosis , Pediatric Obesity/epidemiology , Body Mass Index , ROC Curve , Risk Assessment/methods , Sensitivity and Specificity , Anthropometry/methods
12.
J Imaging Inform Med ; 2024 Jun 26.
Article in English | MEDLINE | ID: mdl-38926264

ABSTRACT

Breast cancer is the most common cancer in women. Ultrasound is one of the most used techniques for diagnosis, but an expert in the field is necessary to interpret the test. Computer-aided diagnosis (CAD) systems aim to help physicians during this process. Experts use the Breast Imaging-Reporting and Data System (BI-RADS) to describe tumors according to several features (shape, margin, orientation...) and estimate their malignancy, with a common language. To aid in tumor diagnosis with BI-RADS explanations, this paper presents a deep neural network for tumor detection, description, and classification. An expert radiologist described with BI-RADS terms 749 nodules taken from public datasets. The YOLO detection algorithm is used to obtain Regions of Interest (ROIs), and then a model, based on a multi-class classification architecture, receives as input each ROI and outputs the BI-RADS descriptors, the BI-RADS classification (with 6 categories), and a Boolean classification of malignancy. Six hundred of the nodules were used for 10-fold cross-validation (CV) and 149 for testing. The accuracy of this model was compared with state-of-the-art CNNs for the same task. This model outperforms plain classifiers in the agreement with the expert (Cohen's kappa), with a mean over the descriptors of 0.58 in CV and 0.64 in testing, while the second best model yielded kappas of 0.55 and 0.59, respectively. Adding YOLO to the model significantly enhances the performance (0.16 in CV and 0.09 in testing). More importantly, training the model with BI-RADS descriptors enables the explainability of the Boolean malignancy classification without reducing accuracy.

13.
BMC Prim Care ; 25(1): 227, 2024 Jun 24.
Article in English | MEDLINE | ID: mdl-38914974

ABSTRACT

INTRODUCTION: Teledermatology is the practice of dermatology through communication technologies. The aim of this study is to analyze its implementation in a Spanish health area during its first two years. METHODS: Cross-sectional descriptive study. It included interconsultations between dermatologists and family physicians in the Salamanca Health Area (Spain) after the implementation of the non-face-to-face modality over a period of two consecutive years. A total of 25,424 consultations were performed (20,912 face-to-face and 4,512 non-face-to-face); 1000 were selected by random sampling, half of each modality. MAIN MEASURES: referral rate, response time and resolution time, type of pathology, diagnostic concordance, and quality of consultation. RESULTS: The annual referral rate was 42.9/1000 inhabitants (35.3 face-to-face and 7.6 non-face- to-face). The rate of face-to-face referrals was higher in urban areas (37.1) and the rate of non- face-to-face referrals in rural areas (10.4). The response time for non-face-to-face consultations was 2.4 ± 12.7 days and 56 ± 34.8 days for face-to-face consultations (p < 0.001). The resolution rate for non-face-to-face consultations was 44%. Diagnostic concordance, assessed by the kappa index, was 0.527 for face-to-face consultations and 0.564 for non-face-to-face consultations. Greater compliance with the quality criteria in the non-attendance consultations. CONCLUSIONS: Teledermatology appears to be an efficient tool in the resolution of dermatological problems, with a rapid, effective, and higher quality response for attention to skin pathologies. REGISTRY: ClinicalTrials.gov Identifier: NCT05625295. Registered on 21 November 2022 ( https://clinicaltrials.gov/ct2/show/ NCT05625295).


Subject(s)
Dermatology , Referral and Consultation , Skin Diseases , Telemedicine , Humans , Spain , Dermatology/methods , Cross-Sectional Studies , Male , Female , Adult , Middle Aged , Referral and Consultation/statistics & numerical data , Telemedicine/statistics & numerical data , Skin Diseases/diagnosis , Skin Diseases/therapy , Health Services Accessibility/statistics & numerical data , Remote Consultation/statistics & numerical data , Aged , Adolescent , Young Adult , Child
14.
Int J Mol Sci ; 25(9)2024 Apr 25.
Article in English | MEDLINE | ID: mdl-38731905

ABSTRACT

A novel rare mutation in the pore region of Nav1.5 channels (p.L889V) has been found in three unrelated Spanish families that produces quite diverse phenotypic manifestations (Brugada syndrome, conduction disease, dilated cardiomyopathy, sinus node dysfunction, etc.) with variable penetrance among families. We clinically characterized the carriers and recorded the Na+ current (INa) generated by p.L889V and native (WT) Nav1.5 channels, alone or in combination, to obtain further insight into the genotypic-phenotypic relationships in patients carrying SCN5A mutations and in the molecular determinants of the Nav1.5 channel function. The variant produced a strong dominant negative effect (DNE) since the peak INa generated by p.L889V channels expressed in Chinese hamster ovary cells, either alone (-69.4 ± 9.0 pA/pF) or in combination with WT (-62.2 ± 14.6 pA/pF), was significantly (n ≥ 17, p < 0.05) reduced compared to that generated by WT channels alone (-199.1 ± 44.1 pA/pF). The mutation shifted the voltage dependence of channel activation and inactivation to depolarized potentials, did not modify the density of the late component of INa, slightly decreased the peak window current, accelerated the recovery from fast and slow inactivation, and slowed the induction kinetics of slow inactivation, decreasing the fraction of channels entering this inactivated state. The membrane expression of p.L889V channels was low, and in silico molecular experiments demonstrated profound alterations in the disposition of the pore region of the mutated channels. Despite the mutation producing a marked DNE and reduction in the INa and being located in a critical domain of the channel, its penetrance and expressivity are quite variable among the carriers. Our results reinforce the argument that the incomplete penetrance and phenotypic variability of SCN5A loss-of-function mutations are the result of a combination of multiple factors, making it difficult to predict their expressivity in the carriers despite the combination of clinical, genetic, and functional studies.


Subject(s)
Cricetulus , NAV1.5 Voltage-Gated Sodium Channel , Pedigree , Penetrance , NAV1.5 Voltage-Gated Sodium Channel/genetics , NAV1.5 Voltage-Gated Sodium Channel/metabolism , Humans , Animals , CHO Cells , Female , Male , Adult , Middle Aged , Spain , Loss of Function Mutation , Phenotype , Mutation
15.
SEMERGEN, Soc. Esp. Med. Rural Gen. (Ed. Impr.) ; 50(3): [102158], Abr. 2024. tab
Article in Spanish | IBECS | ID: ibc-232207

ABSTRACT

Introducción: La pandemia mundial por SARS-CoV-2 ha ocasionado un gran impacto en la vida de los adolescentes afectando el bienestar infanto-juvenil, sin embargo, existe escasa evidencia del efecto que ha tenido a nivel emocional en esta población. Objetivo: Explorar los conocimientos, percepciones y actitudes de los jóvenes frente a la COVID-19 y el impacto provocado en el bienestar emocional. Material y método: Estudio observacional transversal y descriptivo, a partir de una encuesta realizada a alumnos de 16-20 años de cinco institutos del área metropolitana de Barcelona. Resultados: El estudio se efectuó sobre 291 encuestas. De los participantes, 56,7% fueron mujeres. La edad media fue de 16,8 años y la mediana de 17 años. Se detectó un mayor desconocimiento sobre la transmisión de la enfermedad. Las fuentes de información más utilizadas fueron las redes sociales. En cuanto al malestar emocional, destaca la preocupación por enfermar (64%), los problemas económicos familiares (46%), la ansiedad e irritabilidad (27%) y la apatía (26,5%). Se detectan diferencias entre géneros en cuanto a la preocupación (mujeres: 28,8%, hombres: 11,1%), tristeza (mujeres: 29,3%, hombres: 15,5%) y sensación de tener miedo (mujeres: 24,5%, hombres 11%). De los sujetos, 16,7% consultaron con un profesional de salud mental, siendo más frecuente en mujeres (23,8%, hombres: 7,4%). Conclusiones: La COVID-19 ha afectado el bienestar emocional de los adolescentes, sobre todo en la población femenina. Se detecta un mayor uso de las redes sociales para evitar el aislamiento social. Los resultados del estudio pueden ayudar a diseñar estrategias para evitar malestares futuros en el ámbito biopsicosocial.(AU)


Introduction: The worldwide pandemic of SARS-Cov2 has had a great impact on the lives of adolescents, affecting their health and well-being. There is little evidence of the emotional impact of the pandemic on adolescents. Objectiv: To explore the knowledge, perceptions, and attitudes of young people regarding COVID-19 and its impact on emotional well-being. Method: A cross-sectional observational and descriptive study based on a survey of students aged 16–20 from five high schools in Barcelona metropolitan area. Results: The study was carried out on 291 surveys. Females made up 56.7% of the population. The average age was 16.9 years. A greater lack of knowledge about the transmission of the disease was detected. The most frequently used sources of information were social networks. In terms of emotional distress, the most important aspects were worry about getting sick (64%), family financial problems (46%), anxiety and irritability (27%), and apathy (26.5%). Gender differences were detected in terms of worries (women: 28.8%; men: 11.1%), sadness (women: 29.3%, men: 15.5%), and feelings of fear (women: 24.5%; men: 11%). 16.7% of the participants consulted a mental health professional, with this being more common in women (women: 23.8%; men: 7.4%). Conclusions: COVID-19 has affected the emotional well-being of adolescents, especially the female population. It is necessary to implement emotional well-being strategies in early childhood to cope with possible stressful situations in daily life and avoid future mental health problems. There is a growing use of social media to combat social isolation. The results of the study hold the potential to strategies aimed at preempting forthcoming biopsychosocial distress.(AU)


Subject(s)
Humans , Male , Female , Adolescent , Mental Health , Adolescent Health , /psychology , Adolescent Behavior , Quarantine , Psychology, Adolescent , Cross-Sectional Studies , Epidemiology, Descriptive , Primary Health Care , /epidemiology , Surveys and Questionnaires , Spain
16.
J Clin Med ; 13(5)2024 Feb 20.
Article in English | MEDLINE | ID: mdl-38592035

ABSTRACT

BACKGROUND: Mandibular advancement devices (MADs) are an effective treatment for patients with sleep-related breathing disorders, with variable response. Increasingly more research points to the predictive value of Drug-Induced Sleep Endoscopy (DISE) in patient selection. This study aims to analyze the changes in upper airway collapsibility using a titratable MAD simulator during DISE. METHODS: This study included 104 patients with simple snoring and obstructive sleep apnea (OSA). The VOTE scale was used to assess the presence of collapses during the DISE both without and with the MAD simulator. RESULTS: In snorers, there was a decrease in collapses at the level of the soft palate and oropharynx when the advancement was achieved. Patients with mild OSA also showed a decrease in collapses at the base of the tongue. Patients with moderate/severe OSA exhibited significant amelioration at all levels. The levels at which there were residual collapses despite the maneuver were, in order, the velopharynx, oropharynx, epiglottis, and tongue. CONCLUSIONS: The MAD simulator reduces collapsibility at all levels and in all severity groups. Residual collapses suitable for combined treatments were able to be identified. This highlights the need for individualized patient selection, as upper airway collapsibility exhibits variable improvement or worsening with the MAD simulator regardless of the severity of the condition.

17.
Children (Basel) ; 11(4)2024 Apr 17.
Article in English | MEDLINE | ID: mdl-38671697

ABSTRACT

BACKGROUND: Cerebral palsy (CP) is one of the primary causes of physical disabilities in children that affects posture and movement. Upper-extremity (UE) function is frequently impaired, which may result in activity and participation limitations in people with CP. The use of kinesiotape (KT) has increased in the treatment of CP for various purposes. The aim of this systematic review was to assess the efficacy of KT for improving UE function in children and adolescents with CP. METHODS: The literature search was carried out in PubMed, Cochrane, PEDro, Web of Science and SCOPUS databases. The methodological quality was analyzed with the PEDro scale. Review Manager (RevMan 5.4.1) was used for data extraction and risk of bias assessment. RESULTS: A total of five randomized clinical trials were included. The use of KT showed improvement in UE functionality in three studies, with significant outcomes for range of motion (ROM) (three studies), fine motor skills (two studies), grip strength (one study) and manual dexterity (one study). Moreover, it also showed significant improvements in spasticity and gross motor function (one study). Overall, methodological quality was moderate, and the risk of bias was high in the domains related to blinding. CONCLUSION: The use of KT showed improvement in UE function in children and adolescents with CP. However, further research is needed to reinforce the conclusions on the efficacy of KT as a therapeutic tool.

18.
Hum Vaccin Immunother ; 20(1): 2328406, 2024 Dec 31.
Article in English | MEDLINE | ID: mdl-38573783

ABSTRACT

During the 2022-2023 season, the Region of Murcia (an autonomous community of Spain) introduced the influenza vaccination campaign in children aged 24-59 months with the live-attenuated influenza nasal spray vaccine. To expand coverage, a pilot study was conducted to include the 3- to 4-year population in 24 public schools. The aim of the study was to assess the experiences of parents and teachers involved in the project. This was a psychosocial qualitative study in which information was collected from a cohort of 23 parents and 17 teachers who attended three and two focus group sessions, respectively. A high degree of satisfaction with the school-located influenza vaccination program was consistently reported. The teachers reported creating a friendly environment and acting as companions to support children in the absence of their parents. They also considered the intranasal route, which avoids intramuscular puncture, as a facilitating element that turned the vaccination process into a kind of game. Parents emphasized the importance of vaccination to protect their children, and secondarily, to ensure protection of the family nucleus. Some parents who had their children already vaccinated in the health care center reported preference for the school setting, probably selecting this option in the future. The availability of school-based influenza vaccination promoted greater equity in accessing the vaccine and facilitated family reconciliation. To optimize coverage and minimize potential reluctance, providing the necessary information to parents both before and after vaccination was considered. School-located influenza vaccination was feasible and is a valuable strategy to be implemented in future campaigns.


Subject(s)
Influenza Vaccines , Influenza, Human , Child , Humans , Influenza, Human/prevention & control , Pilot Projects , Spain , Vaccination , Parents/psychology , Vaccines, Attenuated
19.
Viruses ; 16(4)2024 03 27.
Article in English | MEDLINE | ID: mdl-38675861

ABSTRACT

A less than one-month-old infant with symptoms of rhinitis died unexpectedly in his sleep. He was not born prematurely and had no known underlying disease. Cerebrospinal fluid, nasopharyngeal and lung samples, and rectal swab were found to be positive for subgroup A rhinovirus, while the blood was negative. This case highlights the important finding that the rhinovirus, a common pathogen associated with upper respiratory tract infections, can sometimes, as the only pathogen, lead to complications such as a cerebrospinal infection and be involved in the sudden infant death syndrome (SIDS). Vigilance is necessary in case of viral infections in the infant's environment, and measures of hygiene and protection must be encouraged in order to reduce the risk of the SIDS.


Subject(s)
Picornaviridae Infections , Rhinovirus , Sudden Infant Death , Humans , Sudden Infant Death/etiology , Picornaviridae Infections/complications , Picornaviridae Infections/virology , Male , Infant , Respiratory Tract Infections/virology , Infant, Newborn
20.
Rev.Chil Ortop Traumatol ; 65(1): 1-8, abr.2024. graf, tab
Article in Spanish | LILACS | ID: biblio-1554748

ABSTRACT

OBJETIVO Comparar los resultados funcionales obtenidos en dos cohortes de pacientes ancianos tratados de forma quirúrgica (artroplastia reversa de hombro) versus tratamiento conservador. MATERIAL Y METODOS Estudio ambispectivo, no aleatorizado. Se incluyeron pacientes de 75 años o más, 15 tratados de forma quirúrgica y 16 siguieron tratamiento conservador. Seguimiento mínimo de 12 meses. A los 3, 6 y 12 meses de la fractura evaluamos las escalas ASES, Constant-Murley and Disabilities of the Arm, Shoulder and Hand score (DASH) y EVA. Además evaluamos los resultados radiológicos y las complicaciones. RESULTADOS No encontramos diferencias significativas para las escalas ASES, DASH, ni EVA .El grupo tratado de forma quirúrgica obtuvo a los 12 meses una puntuación media en la escala Constant mayor, diferencia estadísticamente significativa(75.1 þ/-10.3 vs. 51.9 þ/-12.4 p » 0.001). Además presentaban mayor rango de movilidad para flexión y rotación externa (128.9 þ/-17 versus 99.3 þ/-20.1 p » 0.001, and 35.7 þ/-13.9 vs. 23.4 þ/-15.5 p » 0.032). El 43% de los pacientes tratados mediante artroplastia reversa presentaban tuberosidades normoposicionadas y mejores resultados en las escalas versus pacientes con tuberosidades ausentes o malposicionadas. El grupo sometido a cirugía no presentó mayor tasa de complicaciones.CONCLUSIONES El tratamiento conservador en las fracturas de EPH en tres y cuatro fragmentos en pacientes ancianos ofrece buenos resultados en cuanto a dolor y funcionalidad en la mayoría de pacientes. Falta por definir qué pacientes por tener alta demanda funcional serían candidatos a tratamiento quirúrgico de entrada


OBJECTIVE This study compared functional results in two cohorts of older adults with three- and four-part proximal humeral fractures (PHFs) per Neer's classification treated with reverse shoulder arthroplasty (RSA) or nonoperative management. MATERIALS AND METHODS Ambispective, non-randomized study with two cohorts of patients aged 75 or older treated with RSA (n » 15) or nonoperative management (n » 16) with a minimum follow-up period of 12 months. We analyzed the American Shoulder and Elbow Surgeons (ASES), Constant-Murley, and Disabilities of the Arm, Shoulder, and Hand (DASH) scores and the visual analog scale (VAS) for pain at 3, 6, and 12 months. In addition, we recorded radiological findings and surgical complications. RESULTS The mean Constant-Murley score at 12 months was significantly higher for the RSA group (75.1 þ/- 10.3 vs. 51.9 þ/- 12.4, p » 0.001). There were no differences in ASES, DASH, and VAS scores. Statistically significant differences for flexion and external rotation in abduction favored the RSA group (128.9 þ/- 17.0 versus 99.3 þ/- 20.1, p » 0.001, and 35.7 þ/- 13.9 vs. 23.4 þ/- 15.5, p » 0.032, respectively). For the RSA group, tuberosity positioning was correct in 43% of subjects. These patients presented better scores than those with malpositioned or absent tuberosities but with no statistical significance. Complications in the surgical group were not higher. CONCLUSIONS Nonoperative treatment is a valid option regarding pain and functionality in elderly patients with three- and four-part PHFs. Characteristics of patients with high demands who may be candidates for the initial surgical treatment remain to be defined


Subject(s)
Humans , Male , Female , Aged , Aged, 80 and over , Shoulder Fractures/surgery , Shoulder Fractures/therapy , Shoulder Fractures/diagnostic imaging , Treatment Outcome , Aftercare , Conservative Treatment/methods , Arthroplasty, Replacement, Shoulder/methods
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