Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews.

To describe the experience of parents of children diagnosed with Phelan-McDermid syndrome (PMS) in relation to epileptic seizures and/or convulsions, their daily management and impact on family life. A qualitative descriptive study was conducted. The study included parents of children diagnosed with PMS by a medical specialist. Purposive sampling was used, and data were collected via in-depth interviews. A thematic analysis was performed on the data. This study was conducted according to the Standards for Reporting Qualitative Research. Thirty-two parents were recruited. Four themes were identified: (a) the first epileptic seizure, where the first seizure appears abruptly and unexpectedly; (b) living with seizures, seizures generate high concern about the evolution of the disease and the future of children with PMS; (c) treatment of epileptic seizures, obtaining an adequate treatment is a long process that involves decision making by parents; (d) the impact of epilepsy on the family, where there is a change in the functioning and relationships among family members.  Conclusions: It is necessary to develop programs where parents can discuss treatment decisions with professionals and provide coping strategies for the management of epilepsy and seizures. What is Known: • Children with Phelan-McDermid syndrome may develop epilepsy. Parents receive insufficient information for the management and control of seizures. • Parents describe concerns about the evolution of epilepsy in their children's adulthood, along with the impact of seizures and/or convulsions on their children. What is New: • Epilepsy and seizures force the entire family to adapt their lifestyle and give up activities that can trigger seizures. • Parents pointed out the need to create programs to inform about the benefits and disadvantages of pharmacological treatments in order to improve decision making.

Experiences surrounding the diagnostic process and care among parents of children diagnosed with Phelan-McDermid syndrome: A qualitative study.

AIM: To explore the experience of parents of children diagnosed with Phelan-McDermid syndrome (PMS) with regard to the diagnostic process, treatment, and medical care. METHOD: A qualitative descriptive study was conducted. Participants were recruited using non-probabilistic purposeful sampling. In total, 32 parents with children with PMS were included. In-depth interviews and researcher field notes were used. An inductive thematic analysis was performed. RESULTS: Five themes were identified: (1) the 'diagnostic process' describes the diagnostic process and how it is communicated to the parents; (2) 'treatment and expectations' describes the expectations and hopes placed on future treatment; (3) 'family planning' describes how parents deal with genetic counselling when planning to have more children after a diagnosis of PMS; (4) 'the world of disability' describes the entry of parents into an environment of dependency and disability after the diagnosis; (5) 'family's financial situation' highlights the financial difficulties due to the high cost of therapies and daily care products. INTERPRETATION: Our results provide insight on how a diagnosis of PMS and its consequences are experienced by parents of children with PMS. These results can be used by health professionals to help and support parents.

SARS-CoV-2 Variant Exposures Elicit Antibody Responses With Differential Cross-Neutralization of Established and Emerging Strains Including Delta and Omicron.

The wide spectrum of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants with phenotypes impacting transmission and antibody sensitivity necessitates investigation of immune responses to different spike protein versions. Here, we compare neutralization of variants of concern, including B.1.617.2 (delta) and B.1.1.529 (omicron), in sera from individuals exposed to variant infection, vaccination, or both. We demonstrate that neutralizing antibody responses are strongest against variants sharing certain spike mutations with the immunizing exposure, and exposure to multiple spike variants increases breadth of variant cross-neutralization. These findings contribute to understanding relationships between exposures and antibody responses and may inform booster vaccination strategies.

La experiencia del diagnóstico y la atención en progenitores de niños diagnosticados con el Síndrome de Phelan-McDermid: Un estudio cualitativo.

OBJETIVO: El Síndrome de Phelan-McDermid (SPMD) es una enfermedad rara, infradiagnosticada y sin cura. El propósito de este estudio fue explorar la experiencia de los progenitores con niños diagnosticados con el Síndrome de Phelan-McDermid, en relación con el proceso de diagnóstico, el tratamiento y la atención médica. MÉTODO: Se realizó un estudio cualitativo descriptivo. Los participantes fueron reclutados mediante un muestreo intencional no probabilístico. En total, se incluyeron 32 progenitores con hijos con SPMD. Se utilizaron entrevistas en profundidad y notas de campo de los investigadores. Se realizó un análisis temático inductivo. RESULTADOS: Se identificaron cinco temas: "El proceso diagnóstico", se describe el proceso diagnóstico y la forma de comunicarlo a los progenitores; "El tratamiento y sus expectativas" describe las expectativas y esperanzas construidas sobre un futuro tratamiento; "Planificación familiar", describe como los progenitores se enfrentan al consejo genético, para la planificación de tener más hijos tras el diagnóstico de SPMD; "El mundo de la discapacidad", describe la entrada de los progenitores en el entorno de la dependencia y discapacidad tras el diagnóstico; "La economía familiar", muestra las dificultades económicas debido al elevado coste de las terapias y los productos del cuidado diario. INTERPRETACIÓN: Nuestros resultados proporcionan una visión de cómo el diagnóstico y sus consecuencias son experimentados por los progenitores con niños con SPMD. Estos resultados pueden ser utilizados por los profesionales de la salud para ayudar y apoyar a los progenitores.

The Effectiveness and Usability of a Rehabilitation Program Using the Nintendo Switch to Promote Healthy Aging in Older People with Cognitive Impairment: A Randomized Clinical Trial.

(1) Background: Healthy aging is the process of developing and maintaining functional capacity and optimizing involvement in order to improve one's quality of life as people age. This study aimed to encourage healthy aging in people with cognitive impairment, as well as a control group, via the use of the Nintendo Switch combined with occupational therapy sessions, aiming to improve gross and fine motor skills, functionality, quality of life, and cognitive status. (2) Methods: A randomized clinical trial was undertaken. The sample was randomized using the OxMar software program Attribution 4.0 International, facilitating the division into a control group (CG), who received conventional occupational therapy sessions, and an experimental group (EG), who received therapy incorporating the Nintendo Switch, in addition to conventional occupational therapy sessions. The intervention period with the Nintendo Switch lasted for 8 weeks. (3) Results: Thirty-two participants were included in the study. Significant differences were found in the vast majority of the variables analyzed, which shows an improvement following the intervention; these improvements were mainly observed in measures of skill and the perception of quality of life. (4) Conclusions: An eight-week intervention with the Nintendo Switch alongside conventional occupational therapy helps to maintain cognitive status and functional independence. Following 8 weeks of intervention with the Nintendo Switch, improvements in gross motor dexterity, fine motor dexterity, and quality of life were observed in older people with cognitive impairment.

Effects of Neuropilates on Functional Outcomes in Chronic Stroke: A Randomized Clinical Trial.

Neuropilates is an intervention approach that was developed as a modified version of the Pilates Method to be used for neurological rehabilitation. The main objective of this study was to analyze the effectiveness of regular physiotherapy and occupational therapy rehabilitation in comparison to a combination of traditional rehabilitation with Neuropilates in adults with post-stroke motor disabilities. This was a rater- and analyst-blinded randomized clinical trial with a three-month intervention and a one-month follow up. Participants were randomly allocated to either the experimental group (EG, receiving a combination of conventional therapy and Neuropilates; n = 15) or the control group (CG, receiving solely conventional therapy; n = 15). Once adjusted for baseline FIM scores, the results showed significant differences favoring the EG in daily functioning (FIM), static balance (FRT), right-hand manual dexterity (NHPT) and right-upper limb coordination (BBT). Satisfaction with the received treatment as measured with the CSQ-8 was significantly higher for the EG. In conclusion, the incorporation of Neuropilates, facilitated by a single experienced therapist, can be a valuable complement to conventional physical and occupational therapy. However, Neuropilates-based interventions should be supervised and tailored to each individual by a professional specifically trained in the method.

Mitochondrial DNA insertions into nuclear DNA affecting chromosome segregation: Insights for a novel mechanism of immunosenescence in mice.

Mitochondrial DNA sequences were found inserted in the nuclear genome of mouse peritoneal T lymphocytes that increased progressively with aging. These insertions were preferentially located at the pericentromeric heterochromatin. In the same individuals, binucleated T-cells with micronuclei showed a significantly increased frequency associated with age. Most of them were positive for centromere sequences, reflecting the loss of chromatids or whole chromosomes. The proliferative capacity of T lymphocytes decreased with age as well as the glutathione reductase activity, whereas the oxidized glutathione and malondialdehyde concentrations exhibited a significant increase. These results may point to a common process that provides insights for a new approach to understanding immunosenescence. We propose a novel mechanism in which mitochondrial fragments, originated by the increased oxidative stress status during aging, accumulate inside the nuclear genome of T lymphocytes in a time-dependent way. The primary entrance of mitochondrial fragments at the pericentromeric regions may compromise chromosome segregation, causing genetic loss that leads to micronuclei formation, rendering aneuploid cells with reduced proliferation capacity, one of the hallmark of immunosenescence. Future experiments deciphering the mechanistic basis of this phenomenon are needed.

Food Intake Changes and Their Impact on Quality of Life in Spanish Citizens with and without COVID-19 during Lockdown.

The pervasive impact of the COVID-19 pandemic is just beginning to be analyzed. To date, only a handful of these studies have investigated the relationship between an individual's quality of life (QoL) and their changes in food intake due to the virus (from the associated symptomatology of diagnosis to the universal impact of lockdown on individual lives, regardless of a person's health status). Therefore, the purpose of this study is to identify changes in food intake resulting from the pandemic and the corresponding impact on QoL in the Spanish population. This study focuses its investigation on the 3-month time period within which lockdown was its most restrictive, March−May 2020. Survey questions ask participants to compare their eating habits, general health status, and QoL during these 3 months to times prior to the pandemic. We conducted an online survey amongst the Spanish population over 18 years old. Three surveys were administered: (1) the adult eating behavior questionnaire (EABQ), (2) EuroQoL-5D-5L, and (3) The determinants lifestyle changes during lockdown period (March to May 2020). A total of 86 participants were included, with a mean age of 34 years. In the analysis of QoL, significant differences were found according to age, sex, and the presence of a COVID-19 diagnosis. Likewise, in the analysis of food intake, significant differences were found by age (greater changes in the 18−29-years-old population) (p< 0.01) and by sex (women p < 0.03), as well as greater changes in those with a diagnosis of COVID-19. Furthermore, both food intake and COVID-19 diagnosis were variables that predicted QoL outcomes. In sum, forced home lockdown can cause changes in food intake, which can predict a lower QoL. It follows that the lockdown situation caused by the worldwide COVID-19 pandemic has affected the food intake and overall QoL of the Spanish population.

Social and Family Challenges of Having a Child Diagnosed with Phelan-McDermid Syndrome: A Qualitative Study of Parents' Experiences.

(1) Background: Phelan-McDermid Syndrome (PMS) in children causes significant challenges affecting social and family relationships. The purpose of this study was to explore the experience of parents with children diagnosed with PMS regarding interactions with their social environment; (2) Methods: A qualitative descriptive study was conducted. Participants were recruited using non-probabilistic purposeful sampling. In total, 32 parents of children with PMS were included. In-depth interviews and researchers' field notes were used to collect the data. An inductive thematic analysis was performed; (3) Results: Five themes were identified: (a) challenges in the relationship as a couple; (b) challenges within the family and close social relationships; (c) challenges in the educational-school environment; (d) challenges in the health environment and with health professionals, and (e) reconnection through the PMS association. It would be beneficial for parents to create training programs on PMS in the educational and healthcare settings, to promote the participation of professionals in the PMS association and to develop care programs focusing in their physical, psychological and social health.

SARS-CoV-2 variant exposures elicit antibody responses with differential cross-neutralization of established and emerging strains including Delta and Omicron.

The wide spectrum of SARS-CoV-2 variants with phenotypes impacting transmission and antibody sensitivity necessitates investigation of the immune response to different spike protein versions. Here, we compare the neutralization of variants of concern, including B.1.617.2 (Delta) and B.1.1.529 (Omicron) in sera from individuals exposed to variant infection, vaccination, or both. We demonstrate that neutralizing antibody responses are strongest against variants sharing certain spike mutations with the immunizing exposure. We also observe that exposure to multiple spike variants increases the breadth of variant cross-neutralization. These findings contribute to understanding relationships between exposures and antibody responses and may inform booster vaccination strategies. SUMMARY: This study characterizes neutralization of eight different SARS-CoV-2 variants, including Delta and Omicron, with respect to nine different prior exposures, including vaccination, booster, and infections with Delta, Epsilon, and others. Different exposures were found to confer substantially differing neutralization specificity.

Deep Learning Algorithm for Automated Cardiac Murmur Detection via a Digital Stethoscope Platform.

Background Clinicians vary markedly in their ability to detect murmurs during cardiac auscultation and identify the underlying pathological features. Deep learning approaches have shown promise in medicine by transforming collected data into clinically significant information. The objective of this research is to assess the performance of a deep learning algorithm to detect murmurs and clinically significant valvular heart disease using recordings from a commercial digital stethoscope platform. Methods and Results Using >34 hours of previously acquired and annotated heart sound recordings, we trained a deep neural network to detect murmurs. To test the algorithm, we enrolled 962 patients in a clinical study and collected recordings at the 4 primary auscultation locations. Ground truth was established using patient echocardiograms and annotations by 3 expert cardiologists. Algorithm performance for detecting murmurs has sensitivity and specificity of 76.3% and 91.4%, respectively. By omitting softer murmurs, those with grade 1 intensity, sensitivity increased to 90.0%. Application of the algorithm at the appropriate anatomic auscultation location detected moderate-to-severe or greater aortic stenosis, with sensitivity of 93.2% and specificity of 86.0%, and moderate-to-severe or greater mitral regurgitation, with sensitivity of 66.2% and specificity of 94.6%. Conclusions The deep learning algorithm's ability to detect murmurs and clinically significant aortic stenosis and mitral regurgitation is comparable to expert cardiologists based on the annotated subset of our database. The findings suggest that such algorithms would have utility as front-line clinical support tools to aid clinicians in screening for cardiac murmurs caused by valvular heart disease. Registration URL: https://clinicaltrials.gov; Unique Identifier: NCT03458806.

Virtual reality and video games in cardiac rehabilitation programs. A systematic review.

PURPOSE: To carry out a systematic review about the information about the application of of virtual reality and videogames in cardiac rehabilitation. METHODS: A systematic review was conducted. Jadad scale was applied to evaluate the methodological quality of the articles included and the degree of evidence and the level of recommendation were determined through the Oxford Center for Evidence-Based Medicine. PRISMA guidelines statement for systematic reviews were followed. RESULTS: The total number of articles included in the present review was 10, with heterogeneity in the study populations, cardiac rehabilitation phases, technology used and protocols. Most of the studies showed an increase in heart rate, less pain, a greater ability to walk, higher energy levels, an increase in physical activity and improvements of motivation and adherence. The methodological quality of the studies was between acceptable and poor. CONCLUSIONS: The use of virtual reality and videogames could be considered as complementary tools of physical training in patients with cardiovascular diseases in the different phases of cardiac rehabilitation. However, it is also necessary to carry out studies with adequate methodological quality to determine the ideal technological systems, target populations and clearly protocols to study their effects in the short, medium and long-term assessments.Implications for rehabilitationThe use of virtual reality and videogames could be considered as complementary tools for physical training in patients with cardiovascular diseases.Interactive virtual reality using exergames may promote heart rate, fatigue perception, physical activity and reduce pain in patients with cardiovascular diseases.Virtual reality and videogames enhance motivation and adherence in cardiac rehabilitation programs.

Effects of Virtual Reality on Cardiac Rehabilitation Programs for Ischemic Heart Disease: A Randomized Pilot Clinical Trial.

(1) Background: The aim of the present study was to determine the effects of a virtual reality (VR) program, as a complementary tool to a conventional cardiac rehabilitation (CR) program in phase II of patients with ischemic heart disease compared to a conventional treatment group. (2) Methods: A single blinded randomized clinical trial was conducted. The patients were randomized to a control group (CG) or an experimental group (EG). The EG carried out a training based on VR of aerobic exercise using the XBOX ONE console and Kinect sensor. Ergometry, metabolic equivalents (METS), Functional Independence Measure, 6-min walk test (6MWT), the Short Form Health Survey-36 Questionnaire (SF-36), the Beck Depression Inventory-II, and the degree of satisfaction and adherence to treatment were used as outcome measures. (3) Results: Our results showed no statistically significant differences between the two groups. Statistical analysis within group for the EG showed statistically significant changes in the variables HR final ergometry, ergometry minutes, % ergometry, METS, final HR 6MWT, 6MWT distance, 6MWT number of laps, and for the SF-36 and Beck Depression Inventory-II. (4) Conclusion: A VR-based video game program, as an adjunct tool to a CR program, showed improvements in ergometry, METS, resistance to fatigue and health-related quality of life with excellent adherence and satisfaction perceived by patients with ischemic heart disease in phase II.

Intracellular acidosis and pH regulation in central respiratory chemoreceptors.

Dysfunctions of brainstem regions responsible for central CO2 chemoreception have been proposed as an underlying pathophysiology of Sudden Infant Death Syndrome (SIDS). We recorded respiratory motor output and intracellular pH (pHi) from chemosensitive neurons in an in vitro tadpole brainstem during normocapnia and hypercapnia. Flash photolysis of the H+ donor nitrobenzaldehyde was used to induce focal decreases in pHi alone. Hypercapnia and flash photolysis significantly decreased pHi from normocapnia. In addition, chemoreceptors did not regulate pHi during hypercapnia, but demonstrated significant pHi recovery when only pHi was reduced by flash photolysis. Respiration was stimulated by decreases in pHi (hypercapnia and flash photolysis) by decreases in burst cycle. These data represent our ability to load the brainstem with nitrobenzaldehyde without disrupting the respiration, to quantify changes in chemoreceptor pHi recovery, and to provide insights regarding mechanisms of human health conditions with racial/ethnic health disparities such as SIDS and Apnea of Prematurity (AOP).

Presència dels pares durant els procediments invasius als serveis d'urgències pediàtriques. Què passa a l'Estat espanyol? / Presencia de los padres durante los procedimientos invasivos en los servicios de urgencias pediátricas. ¿Qué sucede en España? / No disponible

Fonament: la participació dels pares als serveis d'urgències pediàtriques (SUP) és important davant la realització de procediments invasius (PI). Objectiu: 1) Conèixer la freqüència de la presència dels pares davant els diferents PI als SUP de l'Estat espanyol. 2) Saber els motius pels quals es restringeix la seva presència. 3) Conèixer el grau d'acord del personal sanitari. Mètode: estudi descriptiu multicèntric, basat en enquestes dirigides als responsables dels diferents SUP d'Espanya. Resultats: En tots els hospitals els pares poden presenciar algun PI, com ara: sutura de ferides (23/32), punció lumbar (17/32) o maniobres de reanimació cardiopulmonar (RCP) (3/32); sense trobar diferències significatives segons les característiques dels hospitals. Entre els motius per restringir la presència dels pares destaquen la seva manca de preparació (17/31), un pitjor rendiment del personal sanitari (12/31) o l'ansietat dels pares (11/31). Ocasionalment (0-25%) se n'han derivat problemes, com el mareig (20/32) o la necessitat d'interrompre el procediment (13/32). El personal sanitari està d'acord amb la presència durant els procediments poc invasius (19/32), i poc o gens d'acord en els moderadament invasius (20/32) i en els molt invasius (30/32). Vint-i-set responsables creuen que és necessari fer programes de formació, grups de treball i protocols. Conclusions: tot i l'habitual presència dels pares durant els PI als nostres SUP, l'existència de motius que en restringeixen la presència i el baix grau d'acord del personal sanitari en algunes tècniques fan necessari el desenvolupament de programes formatius sobre els beneficis d'aquesta presència

Fundamentos. La participación de los padres en los servicios de urgencias pediátricas (SUP) es importante durante la realización de procedimientos invasivos (PI). Objetivo. 1) Conocer la frecuencia de la presencia de los padres durante los diferentes PI en los SUP españoles. 2) Conocer los motivos por los que se restringe su presencia. 3) Conocer el grado de acuerdo del personal sanitario. Método. Estudio descriptivo multicéntrico, basado en encuestas dirigidas a los responsables de diferentes SUP de España. Resultados. En todos los hospitales los padres pueden presenciar algún PI, como la sutura de heridas (23/32), la punción lumbar (17/32) o maniobras de reanimación cardiopulmonar (3/32), sin encontrarse diferencias significativas según las características de los hospitales. Entre los motivos para restringir su presencia destacan: la falta de preparación de los padres (17/31), un peor rendimiento del personal sanitario (12/31) o la ansiedad de los padres (11/31). Ocasionalmente (0-25%) se han derivado problemas, como el mareo (20/32) o la necesidad de interrupción del procedimiento (13/32). El personal sanitario está de acuerdo durante los procedimientos poco invasivos (19/32), y poco o nada de acuerdo en los moderadamente (20/32) y muy invasivos (30/32). Veintisiete responsables creen que es necesario realizar programas de formación, grupos de trabajo y protocolos. Conclusiones. A pesar de la habitual presencia de los padres durante los PI, la existencia de motivos que restringen su presencia y el bajo grado de acuerdo del personal sanitario en algunas técnicas hacen necesario el desarrollo de programas formativos sobre los beneficios de esta presencia (AU)

Background: the importance of parental involvement during invasive procedures (IP) in Pediatric Emergency Departments (PED) has been documented Objective: 1) To determine the frequency of parental presence during different IP in Spanish PED; 2) To assess the reasons for restricting their presence; and 3) To evaluate the agreement among healthcare professionals. Method: descriptive multicenter study based on questionnaires distributed among the chiefs of 32 Spanish PED. Results: family presence is allowed during some IP, including wound suture (23/32), lumbar puncture (17/32), or cardiopulmonary resuscitation (3/32), with no significant differences among hospitals. The main reasons for restricting parental presence are the perception of parents not being prepared to witness the procedure (17/31), the concern that their presence would adversely affect the performance by the healthcare provider (12/31), or parental anxiety (11/31). Occasionally, problems derived from the parental presence have been reported, such as dizziness (20/32) or the need to interrupt the procedure (13/32). Healthcare professionals agree with the presence of parents during some invasive procedures (19/23), but not during the most invasive ones (30/32). Twenty-seven PED chiefs stated the need to develop educational programs, working groups, and dedicated protocols to regulate the presence of parents during IP. Conclusions: despite the usual presence of parents during IP in the PED, the existence of reasons for restriction, as well as the lack of consistent agreement among healthcare professionals on the types of IP where parental presence should be permitted, highlights the need to develop educational initiatives about the benefits of paren-tal presence