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T-Cell Immune Responses in Newborns and Long-Term Sequelae in Congenital Cytomegalovirus Infection (CYTRIC Study).
No full text20.500.12530/87909The objective of this study was to assess the role of T-lymphocyte immune responses in newborns with congenital cytomegalovirus (CMV) infection (cCMV) and their potential association with the development of long-term sequelae. A multicenter, prospective study from 2017 to 2022 was conducted across 8 hospitals in Spain. Blood samples were collected within the first month of life from neonates diagnosed with cCMV. Intracellular cytokine staining was employed to evaluate the presence of CMV-specific interferon-gamma (IFN-γ)-producing CD8+ and CD4+ T lymphocytes (CMV-IFN-γ-CD8+/CD4+) using flow cytometry. The development of sequelae, including hearing loss and neurologic impairment, was assessed during follow-up. In total, 64 newborns were included; 42 infants (65.6%) had symptomatic cCMV. The median age at the last follow-up visit was 25.3 months (IQR 20.1-34.4). Eighteen infants had long-term sequelae (28.1%), predominantly hearing loss (20.3%) and neurologic disorders (15.6%). No relationship was observed between total count or percentage of CMV-specific IFN-γ-CD8+ or CD4+ lymphocytes and long-term sequelae. Multivariable analysis demonstrated an association between lower total lymphocyte count and long-term sequelae (aOR 0.549, 95% CI: 0.323-0.833), which requires further study. CMV-specific IFN-γ-CD4+ and CD8+ T-lymphocyte responses in neonates with cCMV were not predictive of long-term sequelae
Perception of Paediatricians and Families about Nutritional Supplements: Acceptance, Tolerability and Satisfaction in Malnourished Children (PerceptiONS Jr Study).
No full text20.500.12530/87910Malnutrition is a common situation in the Spanish paediatric population. Malnourished children may benefit from different strategies, including dietary modifications or nutritional supplements (NS). It is important to know the different factors that can influence treatment tolerance and adherence, and their impact on nutrition monitoring. To explore the perception of doctors who prescribe nutritional supplements (NS) in children and to investigate different factors involved in tolerance and adherence. A cross-sectional, descriptive observational study based on an ad hoc electronic survey designed to study doctors' perceptions of at least five of their children with NS and their families, subjected to outpatient follow up. Variables included were the socio-demographic variables of the doctors and children, nutritional status of the patients, amount and characteristics of NS (hyper-caloric oral with fibre (HOFF), oral peptide (OPF) and hyper-caloric infant (HIF)), route of administration, perceived benefits, satisfaction, palatability, adherence, and acceptance. 815 patients aged 0-16 years (mean 10.6 years; SD 7.8) were included. A proportion of 64% received HOFF, 16% FOP, and 20% HIF. A proportion of 84% received exclusive oral NS. Total daily calorie intake prescribed with NS ranged from 30-75% in 48.2% of cases, though it was significantly higher in children under 6 months of age. Improvement in overall condition, nutritional status and quality of life was observed in 82%, 79.5%, and 80% of subjects. Improvement in tolerance and digestive symptoms was reported in 83.5% and 72% of subjects. The degree of satisfaction and acceptance of NS was very good in 80% of cases, with taste being the most influential factor (82.3%). Adherence was adequate in more than 60%, and smell was the most significant feature in lack of adherence (55%). The flavour of the best-accepted supplement was chocolate (44%). A total of 97% of prescribing doctors would recommend the same formula again. In our study, prescribing doctors and families perceived an excellent benefit from the use of the prescribed formulas, improved quality of life, high satisfaction, acceptance, and adherence. The positive factors for adequate adherence were sufficient information about the formulations and their benefits, and continuity of care during follow-up. Prescribing doctors would recommend supplement use again given the perceived benefits and satisfaction
Emicizumab is efficacious in people with hemophilia A with comorbidities aged ≥50 years: analysis of 4 phase III trials.
No full text20.500.12530/87913The treatment of older people with hemophilia A (HA) can be complicated by comorbidities. This post hoc analysis evaluates the efficacy and safety of emicizumab in people with HA aged ≥50 years with cardiovascular (CV) risk factors or HIV and/or hepatitis C virus (HCV) infection. The HAVEN 1 (NCT02622321), HAVEN 3 (NCT02847637), HAVEN 4 (NCT03020160), and STASEY (NCT03191799) studies enrolled adults/adolescents with severe HA. Participants were categorized as having a comorbidity if they had any CV risk factors (including history of CV disease, hypertension, diabetes, hyperlipidemia, prior stroke, or obesity), HIV, and/or HCV infection. Efficacy and safety outcomes were compared by age ( Of 504 participants at data cutoff, 408 were aged This pooled analysis suggests that emicizumab efficacy and safety in people with HA aged ≥50 years with CV and HIV/HCV comorbidities were consistent with those in people with HA age
The complexities of decision-making associated with on-demand treatment of hereditary angioedema (HAE) attacks.
No full text20.500.12530/87857Hereditary angioedema (HAE) is characterized by debilitating attacks of tissue swelling in various locations. While guidelines recommend the importance of early on-demand treatment, recent data indicate that many patients delay or do not treat their attacks. This survey aimed to investigate patient behavior and evaluate the key factors that drive on-demand treatment decision-making, as reported by those living with HAE. People living with HAE were recruited by the US Hereditary Angioedema Association (HAEA) to complete a 20-minute online survey between September 6, and October 19, 2022. Respondents included 107 people with HAE, 80% female, 98% adults (≥ 18 years). Attack management included on-demand therapy only (50%, n = 53) or prophylaxis with on-demand therapy (50%, n = 54). Most patients (63.6%) reported that they did not carry on-demand treatment at all times when away from home. The most common reason for not carrying on-demand treatment when away from home was 'prefer to treat at home' (72.1%). Overall, 86% of respondents reported delaying on-demand treatment, despite recognizing the initial onset of an HAE attack and despite 97% of patients agreeing that it is important to recover quickly from an HAE attack. Reasons for non-treatment or treatment delay included 'the attack is not severe enough to treat' (91.9% and 88.0%, respectively), 'cost of treatment' (31.1% and 40.2%, respectively), anxiety about refilling the prescription for on-demand treatment quickly (31.1% and 37.0%, respectively), the pain (injection or burning) associated with their on-demand treatment (18.9% and 28.3%, respectively), the lack of a suitable/private area to administer on-demand treatment (17.6% and 27.2%, respectively), lack of time to prepare on-demand treatment (16.2% and 16.3%, respectively), and a 'fear of needles' (13% and 12.2%, respectively). Survey findings from the patient perspective revealed that when on-demand treatment was delayed, 75% experienced HAE attacks that progressed in severity, and 80% reported longer attack recovery. Survey results highlight that decision-making regarding on-demand treatment in HAE is more complicated than expected. The burden associated with current parenteral on-demand therapies is often the cause of treatment delay, despite acknowledgment that delays may result in progression of HAE attacks and longer time to recovery
Identification of non-actionable mutations with prognostic and predictive value in patients with advanced or metastatic non-small cell lung cancer.
No full textLung cancer is one of the most prevalent cancers and the leading cause of cancer death. Advanced non-small cell lung cancer (aNSCLC) patients frequently harbor mutations that impact their survival outcomes. There are limited data regarding the prognostic and predictive significance of these mutations on survival outcomes in the real-world setting. This observational retrospective study analyzed de-identified electronic medical records from the Flatiron Health Clinico-Genomic and FoundationCore® databases to identify patients with aNSCLC who initiated first-line immune checkpoint inhibitors (ICI; alone or in combination) or chemotherapy under routine care between 2016 and 2021. The primary objectives were to assess the prevalence of non-actionable mutations and to determine their association with overall survival (OS). Real-world progression-free survival (rwPFS) and real-world response (rwR) were investigated as secondary exploratory outcomes. Based on an assessment of 185 non-actionable mutations in 2999 patients, the most prevalent mutations were TP53 (70%), KRAS (42%), CDKN2A/B (31%), and STK11 (21%). STK11, KEAP1, and CDKN2A/B mutations were significantly associated with lower rwR, shorter rwPFS and OS. KRAS mutations were clinically associated with shorter rwPFS in CIT-treated patients. Subgroup analysis revealed that fast progressors were significantly more likely to harbor STK11, KEAP1, and CDKN2A/B mutations. Accordingly, long-term survivors (LTS) showed a significantly lower prevalence of these mutations. Our results provide evidence on the prognostic value of STK11, KEAP1, and CDKN2A/B mutations in patients with aNSCLC. Further research is required to better understand the implications of these findings on patient management and future trial design and treatment selection
Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy.
No full textThe evolutionary conserved miR-137/325 tandem mediates obesity-induced hypogonadism and metabolic comorbidities by repressing hypothalamic kisspeptin.
No full text20.500.12530/87913Obesity-induced hypogonadism (OIH) is a prevalent, but often neglected condition in men, which aggravates the metabolic complications of overweight. While hypothalamic suppression of Kiss1-encoded kisspeptin has been suggested to contribute to OIH, the molecular mechanisms for such repression in obesity, and the therapeutic implications thereof, remain unknown. A combination of bioinformatic, expression and functional analyses was implemented, assessing the role of the evolutionary-conserved miRNAs, miR-137 and miR-325, in mediating obesity-induced suppression of hypothalamic kisspeptin, as putative mechanism of central hypogonadism and metabolic comorbidities. The implications of such miR-137/325-kisspeptin interplay for therapeutic intervention in obesity were also explored using preclinical OIH models. MiR-137/325 repressed human KISS1 3'-UTR in-vitro and inhibited hypothalamic kisspeptin content in male rats, while miR-137/325 expression was up-regulated, and Kiss1/kisspeptin decreased, in the medio-basal hypothalamus of obese rats. Selective over-expression of miR-137 in Kiss1 neurons reduced Kiss1/ kisspeptin and partially replicated reproductive and metabolic alterations of OIH in lean mice. Conversely, interference of the repressive actions of miR-137/325 selectively on Kiss1 3'-UTR in vivo, using target-site blockers (TSB), enhanced kisspeptin content and reversed central hypogonadism in obese rats, together with improvement of glucose intolerance, insulin resistance and cardiovascular and inflammatory markers, despite persistent exposure to obesogenic diet. Reversal of OIH by TSB miR-137/325 was more effective than chronic kisspeptin or testosterone treatments in obese rats. Our data disclose that the miR-137/325-Kisspeptin repressive interaction is a major player in the pathogenesis of obesity-induced hypogonadism and a putative druggable target for improved management of this condition and its metabolic comorbidities in men suffering obesity. Up to half of the men suffering obesity display also central hypogonadism, an often neglected complication of overweight that can aggravate the clinical course of obesity and its complications. The mechanisms for such obesity-induced hypogonadism remain poorly defined. We show here that the evolutionary conserved miR137/miR325 tandem centrally mediates obesity-induced hypogonadism via repression of the reproductive-stimulatory signal, kisspeptin; this may represent an amenable druggable target for improved management of hypogonadism and other metabolic complications of obesity
Proof of concept of an experimental prototype for the prevention of parastomal hernia.
No full textThe aim of this study was to analyse the complications and problems associated with the use of an experimental prototype designed for the prevention of parastomal hernia (PSH), one of the most frequent complications in ostomates. A single-centre, non-comparative, proof-of-concept interventional pilot study of an experimental prototype designed to be used in conjunction with an abdominal compression binder to prevent PSH was conducted. The "Ostomy Fixation Device for Hernia Prevention" (patent P201531826) is a semi-rigid ostomy protector, to be used in conjunction with a compression binder. It is designed to adapt to the dimensions of standard ostomy bags from different brands and serves to transmit, in a localised manner, the support coming from the compression binder in the peristomal area without putting pressure on the collection bag. The main outcome measures were efficacy, safety, and patient-users' opinion/perception. Ten patients were studied for 12 months. Mean age was 61 years (± 11.59), 70% (7) were male, 80% (8) ostomised for colorectal cancer, 90% (9) underwent planned surgery and 80% (8) had a colostomy. the incidence of HPE was 10% (1). no participant experienced pain, discomfort, itching, stinging, leakage, pouch detachment, allergy to components, or injury to the stoma or peristomal skin due to rubbing or pressure. 90% (n = 9) were considered "very satisfied" or "satisfied" with the device. An innovative device designed in collaboration between healthcare professionals and end-users has been shown to be safe and effective in reducing PSH in the group of ostomates studied
Sodium-Glucose Cotransporter Type 2 Inhibitors Use in Elderly Polypathological Patients with Acute Heart Failure: PROFUND-IC Registry.
No full text20.500.12530/87907Background/Objectives: Heart failure (HF) is a highly prevalent clinical syndrome with serious morbidity and mortality. Furthermore, acute heart failure (AHF) is the main cause of hospital admission in people aged 65 years or more. Sodium-glucose cotransporter type 2 inhibitors (SGLT2is) have been shown to improve the survival and quality of life in patients with HF regardless of left ventricular ejection fraction (LVEF). Our aims were to describe the characteristics of adults with multiple pathologies admitted with acute heart failure as the main diagnosis and of the population treated with SGLT2is, as well as to evaluate if their use was associated with lower readmission and mortality rates. Methods: A prospective study of patients from the PROFUND-IC registry who were admitted with AHF as the main diagnosis was conducted. Clinical and analytical characteristics were analyzed, as well as readmissions and mortality. Descriptive and bivariate analyses of the sample between those taking SGLT2is and those who were not were performed, using the chi-square test for qualitative variables and Welch's test for quantitative measures, as well as the Fisher and Wilcoxon tests as indicated for nonparametric tests. Kaplan-Meier curves were constructed to analyze the readmission and mortality of patients at 12 months based on SGLT2i treatment. Finally, a propensity score matching was performed, guaranteeing that the observed effect of the drug was not influenced by the differences in the characteristics between the groups. Results: There were 750 patients included: 58% were women, and the mean age was 84 years. Functional class II according to the NYHA scale predominated (54%), and the mean LVEF was 51%. SGLT2 inhibitors were prescribed to only 28% of patients. Most of the patients were men (48.6% vs. 39.8%, p = 0.029), they were younger (82 vs. 84 years, p = 0.002), and their LVEF was lower (48% vs. 52%,
Validation of a Questionnaire to Assess the Usability of and User Experience with Mobile Health Applications.
No full text20.500.12530/87910The growing use of mobile health (mHealth) applications needs reliable tools to assess their usability and user experience in clinical practice to improve the digital health (eHealth) interventions and ensure engagement, as higher engagement is often linked to increased efficacy of healthcare interventions. This study aimed to validate the patient Satisfaction and Usability with APPs questionnaire (pSUAPP), a multidimensional tool designed for the comprehensive assessment of mHealth applications, particularly for the integrated follow-up of patients with chronic diseases. A validation study was conducted between August and December 2022 with 85 participants from two hospitals in Spain, who completed the pSUAPP questionnaire, comprising 27 Likert-like items across four dimensions: first contact, registration, features and overall experience, and 1 open question. The questionnaire was validated by a panel of 11 experts and further assessed for psychometric properties. The mean pSUAPP score was 79.0 (SD = 12.0), indicating high usability and positive user experience, with the highest scores in the 'features' dimension. The pSUAPP demonstrated moderate correlation with the System Usability Scale (SUS) and high reliability (Cronbach's alpha and omega t > 0.9). A reproducibility analysis showed negligible changes between repeated measures. The pSUAPP questionnaire was found to be a robust tool for evaluating mHealth app usability and user experience, with potential application across various clinical settings