Search Results (208)

Background: Lysosomal storage diseases (LSDs) are a genetically and clinically heterogeneous group of inborn errors of metabolism caused by variants in genes encoding lysosomal hydrolases, membrane proteins, activator proteins, or transporters. These disease-causing variants lead to enzymatic deficiencies and the progressive accumulation of undegraded substrates within lysosomes, disrupting cellular function across multiple organ systems. While classical phenotypes typically manifest in infancy or early childhood with severe multisystem involvement, a combination of advances in molecular diagnostics [particularly next-generation sequencing (NGS)] and improved understanding of disease heterogeneity have enabled the identification of attenuated forms characterised by residual enzyme activity and later-onset presentations. These milder phenotypes often evade early recognition due to nonspecific or isolated symptoms, resulting in significant diagnostic delays and missed therapeutic opportunities. Objectives/Methods: This study characterises the clinical, biochemical, and molecular profiles of 10 adult patients diagnosed with LSDs, all representing attenuated forms, and discusses them alongside a narrative review. Results: Enzyme activity, molecular data, and phenotypic assessments are described to explore genotype–phenotype correlations and identify diagnostic challenges. Conclusions: These findings highlight the variable expressivity and organ involvement of attenuated LSDs and reinforce the importance of maintaining clinical suspicion in adults presenting with unexplained cardiovascular, neurological, ophthalmological, or musculoskeletal findings. Enhanced recognition of atypical presentations is critical to facilitate earlier diagnosis, guide management, and enable cascade testing for at-risk family members. Full article

Objectives: To identify clinical, functional, laboratory, and patient-reported parameters associated with medium-term risk of hospitalization or death among older adults attending a multidisciplinary outpatient clinic, and to assess the predictive performance of these measures for individual risk stratification. Methods: In this cohort study, 350 adults aged ≥65 years were assessed at baseline and followed for an average of 8 months. The primary outcome was a composite of hospitalization or all-cause mortality. Parameters assessed included frailty and comorbidity measures, functional parameters, such as gait speed and grip strength, laboratory biomarkers, and patient-reported measures, such as quality of life (QoL, assessed on a Likert scale) and the presence of depressive symptoms. Predictive performance was evaluated using univariable logistic regression and multivariable modeling. Discriminative ability was assessed via area under the ROC curve (AUC), and selected models were internally validated using repeated k-fold cross-validation. Results: Overall, 40 participants (11.4%) experienced hospitalization or death. Traditional clinical risk indicators, including frailty and comorbidity scores, were significantly associated with the outcome. Patient-reported QoL (AUC = 0.74) and Geriatric Depression Scale (GDS) scores (AUC = 0.67) demonstrated useful overall discriminatory ability, with high specificities at optimal cut-offs, suggesting they could act as “red flags” for adverse outcomes. However, the limited sensitivities of individual predictors underscore the need for more comprehensive screening instruments with improved ability to identify at-risk individuals earlier. A multivariable model that incorporated several predictors did not outperform QoL alone (AUC = 0.79), with cross-validation confirming comparable discriminative performance. Conclusions: Patient-reported measures—particularly quality of life and depressive symptoms—are valuable predictors of hospitalization or death and may enhance traditional frailty and comorbidity assessments in outpatient geriatric care. Future work should focus on developing or integrating screening tools with greater sensitivity to optimize early risk detection and guide preventive interventions. Full article

Background/Objectives: Adult vaccination remains suboptimal, particularly among older adults and individuals with chronic conditions. Hospitals represent a strategic setting for improving vaccination coverage among these high-risk populations. This systematic review and meta-analysis evaluated hospital-based interventions aimed at enhancing vaccine uptake in adults aged ≥60 years or 18–64 years with at-risk medical conditions. Methods: We conducted a systematic review and meta-analysis following PRISMA and MOOSE guidelines. Searches in PubMed, EMBASE, and Scopus identified studies published in the last 10 years evaluating hospital-based interventions reporting vaccination uptake. The risk of bias was assessed using validated tools (NOS, RoB 2, ROBINS-I, QI-MQCS). A meta-analysis was conducted for categories with ≥3 eligible studies reporting pre- and post-intervention vaccination coverage in the same population. Results: We included 44 studies. Multi-component strategies (n = 21) showed the most consistent results (e.g., pneumococcal uptake from 2.2% to 43.4%, p < 0.001). Reminder-based interventions (n = 4) achieved influenza coverage increases from 31.0% to 68.0% and a COVID-19 booster uptake boost of +38% after SMS reminders. Educational strategies (n = 11) varied in effectiveness, with one study reporting influenza coverage rising from 1.6% to 12.2% (+662.5%, OR 8.86, p < 0.01). Standing order protocols increased pneumococcal vaccination from 10% to 60% in high-risk adults. Hospital-based catch-up programs improved DTaP-IPV uptake from 56.2% to 80.8% (p < 0.001). For patient education, the pooled OR was 2.11 (95% CI: 1.96–2.27; p < 0.001, I² = 97.2%) under a fixed-effects model, and 2.47 (95% CI: 1.53–3.98; p < 0.001) under a random-effects model. For multi-component strategies, the OR was 2.39 (95% CI: 2.33–2.44; p < 0.001, I² = 98.0%) with fixed effects, and 3.12 (95% CI: 2.49–3.92; p < 0.001) with random effects. No publication bias was detected. Conclusions: Hospital-based interventions, particularly those using multi-component approaches, effectively improve vaccine coverage in older and high-risk adults. Embedding vaccination into routine hospital care offers a scalable opportunity to reduce disparities and enhance population-level protection. Future policies should prioritize the institutional integration of such strategies to support healthy aging and vaccine equity. Full article

Background/Objectives: Access to nutritious and well-balanced food is essential for well-being. We investigated the relationship between food insecurity (FI) and cardiovascular health (CVH). Methods: This cross-sectional analysis included a nationwide sample consisting of 12,369 Korean adults. The 18-item Household Food Security Survey Module was employed to evaluate FI, with categories ranging from none, to mild, to moderate-to-severe. CVH was assessed through the “Life’s Essential 8” (LE8) framework established by the American Heart Association. This framework includes four health behaviors (diet quality, exercise, tobacco use, and sleep) and four biometric factors (body mass index, blood lipids, blood glucose, and blood pressure). Overall, CVH was scored on a scale from 0 to 100 and categorized into ideal (LE8 score: 80–100), intermediate (LE8 score: 50–79), and poor CVH (LE8 score: 0–49). Multivariate linear and logistic regression models were used to determine the association of FI with CVH status. Results: Within the sample, 3.7% and 0.8% experienced mild and moderate-to-severe FI, respectively. Compared with those without FI, individuals with mild (β: −2.92; 95% CI [confidence interval]: −4.37, −1.48) or moderate-to-severe (β: −7.71; 95% CI: −11.22, −4.20) FI had lower LE8 scores. Additionally, those with mild or moderate-to-severe FI were more likely to have poor CVH status (OR [odds ratio]: 2.14; 95% CI: 1.33, 3.66 for mild FI and OR: 4.83; 95% CI: 1.64, 14.17 for moderate-to-severe FI). Conclusions: FI is negatively associated with CVH in Korean adults. These findings underscore the need for comprehensive policy interventions to enhance food access and promote CVH in this at-risk population. Full article

Background/Objectives: To examine the association between body composition and glucose tolerance in young adults with normal weight, overweight, or obesity. Methods: This observational case–control study included 154 healthy individuals aged 18–25 years. Participants were categorized into three BMI-based groups and underwent anthropometric and body composition assessments using bioelectrical impedance. Glucose tolerance was evaluated via oral glucose tolerance testing, with capillary blood samples collected at baseline and at 30, 60, 90, and 120 min post load. Results: Compared to the normal-weight group, overweight and obese individuals exhibited significantly higher body weight, BMI, visceral and total fat percentages, and reduced muscle mass. Obese participants also showed a significantly greater glucose area under the curve (AUC) and higher fasting and post-load glucose levels. Visceral fat was positively correlated with metabolic impairment. These results indicate a progressive decline in glucose tolerance associated with increasing adiposity and reduced lean mass. Conclusions: Young adults with elevated BMI already demonstrate marked alterations in body composition and impaired glucose tolerance, even in the absence of overt metabolic disease. These findings underscore the importance of the early identification of at-risk individuals using simple, non-invasive tools. Preventive strategies promoting healthy body composition in early adulthood may reduce the future risk of diabetes and its associated complications. Full article

Background and Objectives: Sodium-glucose cotransporter 2 (SGLT2) inhibitors are increasingly used in type 2 diabetes (T2D) due to their cardiorenal benefits and weight-lowering effects. However, concerns have emerged regarding their potential adverse impact on lean mass and muscle strength particularly in patients at risk for sarcopenia. This study aimed to evaluate the effects of empagliflozin on skeletal muscle mass. Secondary objectives were to assess changes in glycemic control, body weight, fat mass and handgrip strength. Materials and Methods: In this 24-week real-world observational study, 31 adult patients with T2D were assigned to either empagliflozin or non-SGLT2i treatment groups. Patients did not receive a high-protein diet, a resistance exercise program or any other weight-reducing medications such as glucagon-like peptide-1 (GLP-1)-based therapies. Anthropometric measurements, body composition via bioelectrical impedance analysis (BIA), and handgrip strength testing were performed at baseline and after 6 months. Sarcopenia was defined according to EWGSOP2 criteria. Results: The empagliflozin group showed significant improvements in HbA1c, fasting plasma glucose, body weight, waist circumference, and fat mass (p < 0.05 for all). No significant changes were observed in the empagliflozin group after 6 months in appendicular skeletal muscle mass index (from 7.81 ± 1.33 kg/m² to 7.84 ± 1.38 kg/m², p = 0.154). No statistically significant changes were observed in handgrip strength in either group. Conclusions: Empagliflozin treatment over six months led to favorable changes in metabolic parameters and fat mass without detrimental effects on skeletal muscle mass or muscle strength. In clinical practice, the selection of antidiabetic therapies should consider individual glycemic targets, cardiovascular and renal risks, weight management, comorbidities and sarcopenia risk. Resistance exercises and adequate dietary protein intake should be recommended to preserve muscle mass in at-risk patients. Larger randomized trials are needed to confirm the long-term effects of SGLT2 inhibitors on body composition particularly in older adults. Full article

Background/Objectives: In addition to classical transmission routes, hepatitis A (HA) outbreaks were, for the first time, linked to sexual activity in the late 1970s, particularly among men who have sex with men (MSM). Since then, outbreaks have continued to emerge globally among adults engaging in high-risk sexual behaviors, reinforcing the ongoing public health significance of this transmission route. Although the COVID-19 pandemic temporarily reduced HA cases, outbreaks reemerged following the relaxation of pandemic measures. This study aims to report the HA outbreak registered at Romania’s tertiary infectious diseases hospital during the first half of 2022. Methods: We retrospectively analyzed all HA cases admitted to the National Institute for Infectious Diseases from 1 January to 1 August 2022. Results: Among 51 cases, eight children (under 14) were excluded from further analyses. Of the 43 remaining cases, 37 (86%) were male, with 20/37 (54.05%) identified as MSM. Twenty-two of the males (59.45%) were previously or concomitantly diagnosed with sexually transmitted diseases (STDs), notably syphilis and HIV. A marginal finding: 14 out of 29 patients screened for hepatitis E tested positive for IgM. The MSM patients exhibited significantly higher transaminase levels (ALT median level 3404 U/L [IQR 2608–5448] vs. 2066 U/L [IQR 1393–3682]) and more severe liver impairment (INR median level 1.37 [IQR 1.18–1.78] vs. 1.18 [IQR 1.11–1.43] compared to non-MSM patients. While direct bilirubin levels were higher in MSM (7.4 mg/dL vs. 5.5 mg/dL), the difference was not statistically significant. Conclusions: An HA outbreak occurred at the beginning of 2022 among Romanian young MSM, with a more severe acute liver injury. High-risk sexual practices may be a potential risk factor for severe HA. This emphasizes the need to screen for STDs in young males with HA and review vaccination policies for at-risk individuals. Full article

Background/Objectives: Coeliac disease is an immune-mediated disorder of the gastrointestinal tract that may result in significant nutritional deficiencies. Effective management requires strict, lifelong adherence to a gluten-free diet. Both underdiagnosis and unnecessary dietary restrictions can adversely affect patients’ health and quality of life. To assess adherence to the current recommendations for the laboratory diagnosis of coeliac disease and promote evidence-based practices while reducing inter-laboratory variability, the Spanish Group on Autoimmunity of the Spanish Society of Immunology conducted a nationwide survey. Methods: A thirty-item survey was distributed to fifty autoimmune laboratories across Spain. Data were collected through a structured Excel-based questionnaire comprising multiple-choice items, which was distributed via email to the participating laboratories. It explored practices related to the diagnosis of coeliac disease in the general population and among at-risk groups as well as approaches to patient follow-up and demand management. Results: Thirty-five laboratories completed the electronic questionnaire. For the serological screening of coeliac disease, all the respondents reported using IgA anti-tissue transglutaminase (tTG-IgA) antibody testing together with total IgA measurement to assess IgA competence. However, consistent use of anti-endomysial antibody testing and HLA genotyping and adherence to pre-analytical recommendations for accurate interpretation of results were not uniform across centres. Conclusions: At the time these data were collected (the third trimester of 2021), the 2020 ESPGHAN guidelines for the diagnosis of coeliac disease in the paediatric population had not yet been fully implemented in most of the laboratories surveyed. For diagnosing adults, most laboratories adhered to local and European guidelines. Full article

Objectives: Wheelchair seat sagging is hypothesized to increase pressure and shear forces, potentially leading to pressure injuries. The objective of this study was to assess the impact of correcting wheelchair seat sagging on ischial pressure, shear force, and posture in a population of healthy adults. Methods: A total of twenty-two participants who met the study requirements were included in the study. Participants were evaluated under two conditions: with seat base correction (With Correction) and without it (No Correction). Correction was achieved using insert panels. Ischial pressure was measured using a pressure-mapping system (CONFORMat), shear force with a specialized sensor (iShear), and posture with accelerometers (TSND151). The primary analysis compared peak pressure index (PPI), shear force, slide, and postural changes between conditions. The subgroup analysis was conducted as an exploratory approach to assess potential variation among participants with elevated shear forces. Results: There was no statistically significant difference in ischial pressure between the No Correction and With Correction conditions (p = 0.37). However, shear force and slide were significantly reduced when seat sagging was corrected (p < 0.05). Accelerometer data showed no significant difference in postural changes between conditions (p ≥ 0.05), although the With Correction condition displayed a slight trend toward greater positional variability over time. Conclusions: These findings indicate that correcting seat sagging can reduce shear force and slide, potentially lowering the risk of pressure injuries. However, because this study targeted healthy adults, further research involving older or at-risk populations is necessary. Addressing seat sagging could be an important component of comprehensive pressure injury prevention strategies. Full article

Background: Malnutrition is increasingly prevalent due to rising life expectancy, oncological cases, and chronic diseases. Early detection is crucial for rehabilitation, complication prevention, and cost reduction. However, nutritional support is often suboptimal. This study aimed to determine malnutrition prevalence and nutritional support status within our hospital. Methods: A point prevalence study was conducted in adult inpatient clinics (excluding pediatrics, infectious diseases, and intensive care) by a 12-member team following ethical approval. NRS-2002 scores, arm/calf circumferences, BMI, and laboratory data (albumin, leukocytes, lymphocytes, neutrophils, hemoglobin, CRP, creatinine) were assessed. Enteral and parenteral nutrition treatments were recorded. Patients with NRS-2002 scores ≥ 3 were classified as at risk of malnutrition. Results: Among 178 patients, 24.7% were at risk of malnutrition. Surgical clinics had a higher malnutrition risk (32.3%) than internal medicine clinics (20.3%). Only 27.1% of at-risk patients received nutritional support (surgical: 19%, internal medicine: 44%). Patients at risk of malnutrition exhibited significantly lower arm circumference (p: 0.000), calf circumference (p: 0.002), lymphocyte counts (p: 0.000), hemoglobin (p: 0.018), albumin (p: 0.001), and BMI (p: 0.038), as well as significantly higher age (p: 0.000) and CRP levels (p: 0.000). Conclusions: Nutritional support remains inadequate despite increased attention to malnutrition. Intensified nutrition education, particularly in surgical inpatient clinics, is needed to improve patient rehabilitation and outcomes. Full article

Background/Objectives: Dissonance-based (DB) eating disorder (ED) prevention programs have been showing their efficacy in reducing ED symptoms among adolescents, young adults, and older people. Several meta-analyses showed that the Body Project is the most effective ED prevention program for at-risk women; however, the program presents high costs when delivered in-person and recruitment on a large scale is limited, suggesting the evaluation of its efficacy when delivered virtually. Thus, we investigated the efficacy of the v-Body Project (i.e., a virtual DB ED prevention program) among young adult Brazilian women. Methods: A pilot study delivered the v-Body Project to 85 Brazilian women (M_age = 22.55, SD = 2.07, age range = 18–25). Measures of ED symptoms, body dissatisfaction, the thin ideal internalization, negative affect, self-esteem, and body appreciation were applied at baseline, post-intervention, and at 1-month and 6-months follow-up. Results: Results demonstrated improvements in all outcomes at post-intervention. Large effect sizes were found for ED symptoms, body dissatisfaction, thin–ideal internalization, negative affect, and body appreciation (Cohen’s d = 0.74–1.31) and were maintained up to 6-months. A small effect size was identified for self-esteem (Cohen’s d = 0.40), while the efficacy was maintained up to 6-months. Conclusions: Results support the efficacy of the v-Body Project up to 6-months, providing a tool with lower costs for participants and the advantage of large-scale application for ED prevention programs. Strategies are needed to implement this protocol within the Brazilian public health system, including the training of facilitators and the broader dissemination of the intervention. Full article

Background/Objectives: Older adults with frailty are at-risk of worse outcomes following respiratory-viral-infections such as COVID-19. Data on effectiveness of vaccination/boosting in frail older adults during Omicron is lacking. Methods: National healthcare-claims data and COVID-19 registries were utilized to enroll a cohort of older Singaporeans (≥60 years) as of 1 January 2022, divided into low/intermediate/high-risk for frailty; matching weights were utilized to adjust for sociodemographic differences/vaccination uptake at enrolment across frailty categories. Competing-risk-regression (Fine-Gray) taking death as a competing risk, with matching weights applied, was utilized to compare risks of COVID-19-related hospitalizations and severe COVID-19 across frailty levels (low/intermediate/high-risk), with estimates stratified by booster status. Individuals were followed up until study end-date (20 December 2023). Results: 874,160 older adults were included during Omicron-predominant transmission; ~10% had intermediate/high-frailty-risk. Risk of hospitalization/severe COVID-19 was elevated in those with intermediate/high-frailty-risk up to XBB/JN.1 transmission. Boosting was associated with decreased risk of COVID-19-related hospitalization across all frailty categories in infection-naïve individuals. However, in infection-naïve older adults with high-frailty-risk, while receipt of first boosters was associated with lower risk of COVID-19-hospitalization/severe COVID-19, additional booster doses did not reduce risk. In reinfected older adults, first boosters were still associated with lower hospitalization risk (adjusted-hazards-ratio, aHR = 0.55, 95% CI = 0.33–0.92) among the non-frail, but not in the intermediate/high-frailty-risk minority. Conclusions: First boosters were associated with reduced adverse COVID-19 outcomes across all frailty categories in infection-naïve older adults during Omicron. However, in the high-frailty minority, boosting did not additionally reduce risk in reinfected individuals with hybrid immunity, and beyond the first booster for infection-naïve individuals. Full article

Background/Objectives: Peripheral retinal degenerations (PRDs) are structural anomalies in the outer regions of the retina, typically emerging in adolescence and early adulthood. Early detection is crucial, as some PRDs can lead to sight-threatening complications, such as retinal detachment, if left unmanaged. Due to a paucity of research regarding PRDs and their association with axial length (AL) and refractive error (RE) in young Australian adults, this study aimed to investigate the prevalence of PRDs in this population and establish whether AL and RE could help predict the likelihood of PRD occurrence. Methods: A cross-sectional study was conducted on a mixed population (n = 221) of Australian adults aged 18 to 40. Demographic data, RE, AL, and a series of ultra-widefield (UWF) retinal images were obtained from participants’ undilated eyes using the Zeiss Clarus^TM 500. Results: The overall PRD prevalence was 8.15% (n = 442 eyes). Binary logistic regression revealed that a longer AL was a more significant factor in increasing the risk of PRD development across all myopia classifications compared to emmetropia than RE. The likelihood of a PRD was 50% at an AL of 26.9 mm and −6.50D of myopia, and 95% at 29.6 mm and −11.00D. Conclusions: PRD prevalence was lower than reported in other global studies, perhaps reflecting the diverse ethnic makeup of the cohort. While our study supports the conventional understanding that longer ALs, and high myopia are key risk factors for developing a PRD, it also provides new insights into the likelihood of detecting a PRD at a given AL or RE in a mixed population. This information is crucial for eye care practitioners, enabling early identification of at-risk individuals and screening for PRDs that may increase the risk of retinal detachment. Full article

Introduction: Asthma and chronic obstructive pulmonary disease (COPD) are chronic respiratory illnesses frequently accompanied by anxiety and depression. These psychological symptoms often go undetected due to their overlap with somatic complaints. According to the regulatory theory of temperament (RTT), biologically based temperament traits may influence emotional responses to chronic illness. This study examined whether RTT-defined temperament traits predict depression and anxiety severity in patients with asthma and/or COPD. Material and Methods: The study included 210 adult patients with asthma and/or COPD recruited from a university hospital and pulmonology clinics. Individuals with a prior history of mental illness were excluded. Participants completed three validated questionnaires: the Formal Characteristics of Behavior–Temperament Inventory (FCB-TI), the Beck Depression Inventory (BDI), and the State–Trait Anxiety Inventory (STAI). Additional demographic and clinical data were collected. Multiple linear regression was used to assess the predictive value of six temperament traits for depression, state anxiety, and trait anxiety. A significance threshold of α = 0.05 was used in all statistical tests. Results: Temperament structure significantly predicted all three mental health outcomes: depression (R² = 0.37), state anxiety (R² = 0.45), and trait anxiety (R² = 0.35). Briskness negatively correlated with all outcomes, while emotional reactivity showed a positive correlation. No significant associations were found for the remaining four traits. Socioeconomic and lifestyle factors were not significant predictors. Conclusions: Temperament traits, particularly briskness and emotional reactivity, significantly influence depression and anxiety severity in asthma and COPD. Temperament assessment may serve as a low-cost, telemedicine-compatible tool to identify at-risk patients and support integrated, personalized care. Full article

Background/Objectives: Respiratory Syncytial Virus (RSV) is a leading cause of Lower Respiratory Tract Infections (LRTIs), posing a serious threat to vulnerable populations. Although growing evidence highlights its significant impact on older adults, RSV surveillance and data collection remain largely focused on children, underestimating the burden in older and high-risk adults. This review aims to synthesize current evidence on the epidemiological and clinical impact of RSV in older adults in Europe, assess existing surveillance strategies, and identify gaps to guide targeted public health responses. Methods: A two-phase research strategy was adopted. First, a comprehensive review of studies published between 2015–2025 was conducted via PubMed, focusing on the RSV burden in high-risk and elderly populations in Europe. Second, a structured web screening was performed to assess the status of existing RSV surveillance systems, focusing on eight selected European countries. Results: The review reported RSV prevalence rates ranging from 1% to 64.7% among older adults, with a high prevalence of comorbidities that exacerbate disease severity. Hospitalization rates varied between 12.6–55.9%, while mortality ranged from 2.15% to 13%, reaching up to 36% in intensive care settings. Surveillance systems for adult RSV infections across Europe remain limited and fragmented, with only 37.5% (3/8) of analyzed countries having dedicated surveillance for adults. Conclusions: RSV represents a substantial and underrecognized threat to older adults, with significant clinical and healthcare implications. Strengthening surveillance, standardizing data collection, and ensuring equitable access to newly available preventive measures are urgent priorities to reduce the disease burden, protect vulnerable populations, and support resilient health systems against future health challenges. Full article