Search Results (1,814)

Patterns of family caregiving of older adults have been identified based on aspects such as care-related tasks and intensity and are associated with caregiver well-being. A gap remains, however, in understanding how individual-, relational-, and cultural-level factors concurrently inform caregiving groups within multicultural families. In this study, we identified caregiving patterns among Mexican American individuals aiding older adults by drawing from a variety of care recipient and caregiver characteristics. We also assessed relationships between established subgroups and perceived caregiver stress. Using data from the 2016 Hispanic Established Populations for the Epidemiological Study of the Elderly (Caregiver supplement, Wave 9, N = 460), we performed latent class analysis to determine caregiving subgroups from 8 indicator variables representing patient needs, family characteristics, and caregiver health and support. Findings identified four caregiving subgroups that varied based on older adults’ care needs and caregivers’ family status, nativity, and health. Results from multivariable linear regression indicated that caregivers from the Moderate Burden/Non-cohabitating group perceived significantly less stress than those in the Elevated Burden & Health Risk group. In conclusion, we demonstrated how multi-level factors shape caregiving patterns, which can inform support efforts for multicultural families. Full article

Ionizing radiation can damage DNA, leading to mutations, and is a risk factor for cancer. Based on the assumption that all radiation exposure poses a risk in linear proportion to its dose, ionizing radiation is considered a non-threshold carcinogen. However, most epidemiological studies have had insufficient statistical power to detect excess cancer risks from low-dose radiation exposure. Therefore, research is needed to identify radiation signatures that distinguish radiation-induced cancers from spontaneously developed cancers. In rodent cancer models, interstitial chromosomal deletions of specific tumor-suppressor gene loci are characteristically found in cancers from irradiated animals. In humans, a high frequency of small deletions and chromosome rearrangements, such as large deletions, inversions, and translocations, has also been reported in second cancers that develop in patients who received radiotherapy and in thyroid cancers diagnosed in residents after the Chornobyl accident. These genomic alterations are likely to be generated as a consequence of the processing of radiation-induced DNA double-strand breaks. Particularly, chromosome rearrangements that occur at loci directly linked to tumor formation after ionizing-radiation exposure are potentially useful as biomarkers and as therapeutic targets for radiation-induced cancer. Here we provide an overview of the radiation-induced mutational signatures observed in animal and human cancers. Full article

Background: While enteroviruses (EVs) are recognized causes of diverse illnesses, little is known about the epidemiology and molecular characteristics of uncommon enterovirus C (EV-C) types, including EV-C104, EV-C105, and EV-C109. Methods: We conducted genomic surveillance of EVs at the Johns Hopkins Health System between 2018 and 2024 (a total of 3715 samples), identifying EV-C104, EV-C105, and EV-C109 in respiratory samples. VP4-VP2 and whole-genome sequencing were used to assess genetic diversity and intra-host evolution. Results: Five EV-C105 infections were identified primarily in pediatric patients, presenting with a range of clinical features including fever, gastrointestinal symptoms, and cerebellitis. Prolonged EV-C104 and EV-C109 infections were identified in two immunocompromised adults. EV-C104 persisted for over five months and showed evidence of viral genomic changes (intra-host evolution). EV-C109 was detected over a four-month period. Phylogenetic analysis revealed a novel EV-C105 clade (C3) closely related to recent USA strains. EV-C104 genomes aligned with genotype B sequences from the USA and Europe, while EV-C109 sequences were similar to 2014–2015 strains from the Netherlands. Conclusions: These findings highlight the emergence, persistence, and genetic evolution of uncommon EV-C types in Maryland, especially among immunocompromised hosts, emphasizing the importance of continued genomic surveillance and clinical correlations. Full article

Until recently, Stenotrophomonas maltophilia was considered a low-virulence pathogen, usually found as an environmental commensal and colonizer of moist abiotic surfaces. Lately, it has increasingly been implicated in invasive infections with high associated morbidity and mortality. Most epidemiological studies involving patients with S. maltophilia infections have recorded risk factors and their associations with outcomes in critically ill patients. The aim of this study was to investigate its epidemiology as a pathogen in patients hospitalized in medical wards and potential factors associated with mortality. For this purpose, S. maltophilia-positive cultures from patients admitted to medical wards from 1 January 2023 to 30 June 2025 were collected, demographics and patient characteristics were recorded and analyzed and associated with clinical outcome. Twenty-nine patients and their first positive S. maltophilia positive culture were included in the study with a direct attributable mortality of 27.6%. Patients with cardiovascular and chronic obstructive pulmonary disease more commonly developed respiratory tract infections. Among the recorded comorbidities, only diabetes was associated with worse outcome. Most of the strains retained sensitivity to co-trimoxazole and levofloxacin and treatment outcome was not affected by the choice of regimen. This study highlights the rise of S. maltophilia to a true pathogen affecting immunocompetent patients; in combination with its antimicrobial resistance, this justifies its recognition as an emerging pathogen of public health concern. Full article

Dengue fever has significantly increased globally, extending into non-endemic regions. This study aims to describe the epidemiological and clinical characteristics of pediatric dengue cases diagnosed in Madrid, Spain, over ten years. We conducted a retrospective observational study across four tertiary hospitals, including all confirmed dengue cases in children under 16 between 2015 and 2024. Epidemiological data, clinical presentation, laboratory findings, and outcomes were collected, with severity assessed according to the 2009 WHO criteria. Forty-six cases were identified, with 72% diagnosed in the last three years and a peak incidence in 2024. Children visiting friends and relatives (VFR) constituted the majority of cases (56%). The most frequent clinical features were fever (100%) and gastrointestinal symptoms (78%), while laboratory findings included leukopenia (72%), thrombocytopenia (70%), and hypertransaminasemia (74%). Five cases (10%) met the criteria for severe dengue, one being fatal in a patient with pre-existing oncological disease. We identified no autochthonous cases. These results highlight the growing impact of imported pediatric dengue in non-endemic regions, the particular vulnerability of VFR travelers, and the need for clinical awareness, improved diagnostic availability and prevention strategies, especially in climate-influenced vector expansion. Full article

This study aimed to provide basic data according to age on objective sleep duration distribution and sleep characteristics via subjectivity, and to determine the prevalence of insufficient sleep and related sleep parameters in the general Japanese population. Data from the second survey of the Japan Multi-Institutional Cohort (J-MICC) Daiko Study were used for the analysis, with 2091 participants (1556 women; 58.6 ± 9.8 years old) included. Questionnaires included subjective sleep duration, perceived sufficiency, regularity, the Pittsburgh Sleep Quality Index (PSQI), Insomnia Severity Index (ISI), Morningness–Eveningness Questionnaire (MEQ), and Epworth Sleepiness Scale (ESS). Sleep measurements were taken via actigraphy for one week. In total, 247 (11.8%) respondents reported insufficient sleep and 953 (45.6%) reported somewhat insufficient sleep. Working-age adults had shorter subjective and measured sleep durations than those aged ≥ 60 years. About 20% of those aged ≥ 50 years and more than 30% of those aged < 50 years reported ≥2 h of sleep deprivation. Perceived insufficient sleep was associated with irregular sleep but not sleep efficiency or sleep latency. Additionally, sleep duration perceived as insufficient varied among individuals. Individual differences in sleep duration and sleep efficiency were greater than those based on age. In conclusion, implementing measures to address sleep deprivation in Japan’s working-age population are essential, and future epidemiological studies should consider individual differences. Full article

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) raced around the world across different populations; there needs to be a consolidated effort to understand the divergence of the epidemiology of SARS-CoV-2. Population-based epidemiological characteristics studies measure the extent of SARS-CoV-2 infection in a country. The current research study was designed to report epidemiological data from Pakistan. For this purpose, 246 SARS-CoV-2-infected patients were included in the study. For SARS-CoV-2 confirmation, viral samples were collected from all the study participants; SARS-CoV-2 infection was confirmed by viral nucleic acid detection using a nucleic acid detection kit. After SARS-CoV-2 confirmation, all the study participants were interviewed for epidemiological data through a detailed questionnaire. The study results showed that the disease ratio was higher between 30 and 59 years (51.21%) of age. The male ratio (55.28%) was higher compared to the female ratio (44.71%). The patients’ illiteracy and low socioeconomic status were 32.52% and 59.75%, respectively. The majority of the patients (97.56%) had cough, smell or taste disturbance (79.67%), or fever (76.42%), and 70.73% had fatigue. For comorbidities, a higher ratio was observed for diabetes (38.61%), hypertension (36.17%), and respiratory disease (16.26%). The vaccination status analysis revealed that 51.21% of patients had not received routine immunizations, and 65.5% were un-vaccinated against SARS-CoV-2. Notably, not a single patient was vaccinated for influenza vaccine. The current research study concluded that SARS-CoV-2 was more prevalent in individuals who were middle aged, male, and had low socio-economic status. The most common symptoms were cough, smell or taste disturbance, and fever. The patients’ vaccination status highlights a critical gap in preventive healthcare and shows the need to strengthen vaccination awareness and accessibility in the population to reduce vulnerability to future outbreaks. Future research should focus on investigating the impact of COVID-19 outcomes on comorbidities such as diabetes and hypertension. Full article

Osteoporosis is a common disease characterized by a reduction in bone mineral density (BMD), leading to an increased risk of pathological fractures and even mortality. Although menopause is a major risk factor, osteoporosis can also occur in premenopausal women. The aim of this study was to identify genetic variants associated with the development of osteoporosis in Korean premenopausal women. Subjects were recruited from the Anseong and Ansan cohorts of the Korean Genome and Epidemiology Study (KoGES). Clinical and epidemiological characteristics were assessed, and participants were classified based on BMD values measured at the distal radius and mid-shaft tibia. Individuals with confounding risk factors such as low body weight, smoking, high alcohol consumption, steroid/hormone therapy, or relevant medical history were excluded. A total of 247 healthy controls and 57 osteoporosis patients were included. Genotyping was performed using the Illumina Infinium HumanExome BeadChip and the Affymetrix Axiom Exome Array. Data were analyzed using the SNP and Variation Suite and PLINK, with quality control thresholds set at MAF ≥ 0.05 and HWE p ≥ 0.01. Functional annotation and protein structure predictions were performed using PolyPhen-2, SIFT, and PROVEAN. Genome-wide association analyses identified 113 single-nucleotide polymorphisms (SNPs) in 69 genes significantly associated with osteoporosis (p < 0.05) in both platforms, with 18 SNPs showing high cross-platform consistency (p < 0.01). Several of these genes were implicated in bone metabolism (e.g., ESRRG, PECAM1, COL6A5), vitamin D metabolism (e.g., NADSYN1, EFTUD1), skeletal muscle function (e.g., PACSIN2, ESRRG), and reproductive processes (e.g., CPEB1, EFCAB6, ASXL3). Notably, the CPEB1 rs783540 SNP exhibited the strongest association (p < 0.001) in both analyses. Our findings suggest that genetic polymorphisms in pathways related to bone metabolism, vitamin D signaling, muscle–bone interaction, and reproductive hormone regulation may contribute to the development of osteoporosis in Korean premenopausal women. These results provide a genetic basis for early identification of at-risk individuals and warrant further functional studies to elucidate the underlying mechanisms. Full article

Background/Objectives: The os supranaviculare (OSSN), also known as os talonaviculare dorsale, astragalo-scaphoid ossicle, or Pirie’s bone, is a small extra bone that was first described in 1921 by A.H. Pirie and is located at the top front part of the navicular bone or talonavicular joint. The knowledge regarding the epidemiology of the OSSN is scarcely established, as its prevalence remains unknown and varies significantly among multiple studies. This meta-analysis aims to clarify and systematically summarize all available data on the characteristics and prevalence of the OSSN. Methods: Four major databases (PubMed/Medline, Embase, ScienceDirect, Scopus) were thoroughly searched for studies reporting original data regarding the OSSN up until May 2025. The protocol of this study was pre-registered on PROSPERO (ID: CRD42025638111) and adhered to PRISMA guidelines. To evaluate the between-study heterogeneity, the 95% prediction intervals (95%PI) were calculated; I² statistic and Chi² test were also used. The AQUA-tool was used to assess the quality of included studies. Results: In total, 13 studies (18,745 feet) qualified for inclusion in the quantitative analysis. The pooled prevalence estimate (PPE) of the OSSN in the general population was found to be 0.88% (95%CI: 0.62–1.24%). The PPE of the OSSN was higher in males (0.87%, 95%CI: 0.58–1.32%) than in females (0.48%, 95%CI: 0.14–1.64%). The os supranaviculare was similarly prevalent in both European (1.04%, 95%CI: 0.55–1.96%) and Asian (0.87%, 95%CI: 0.66–1.13%) populations. Conclusions: the os supranaviculare is a very rare anatomical variation that is present in less than one in a hundred feet. Moreover, although usually asymptomatic, it can occasionally be associated with dorsal foot pain or navicular stress fractures. Accurate differentiation from avulsion fractures is essential to avoid unnecessary invasive treatment. Full article

Background/Objectives: Opportunistic fungal infections are common among people living with HIV (PLHIV) and contribute substantially to morbidity, mortality, and hospitalization rates in this population. This study aimed to determine the prevalence of dermatological manifestations of fungal infections in HIV-positive patients and examine their association with demographic, clinical, and immunological characteristics. Methods: A retrospective review of medical records from 2500 PLHIV treated at the Infectious Diseases Unit of “Andreas Syggros” Hospital for Skin and Venereal Diseases between 1988 and 2017. Data from patients diagnosed with opportunistic fungal infections were analyzed. Participants were classified as either antiretroviral therapy (ART)-naïve or already receiving treatment. Recorded fungal infections were correlated with epidemiological variables and CD4+ T-cell counts. Results: Opportunistic fungal infections were identified in 859 patients (34.36%), with a marked male predominance. Candidiasis was the most frequently reported condition, with a higher prevalence among female patients. Lower CD4+ counts were significantly associated with an increased risk of cryptococcal meningitis, esophageal candidiasis, Pneumocystis jirovecii pneumonia (PJP), and oral candidiasis, whereas higher CD4+ counts were more common in patients with dermatophytosis, onychomycosis, and pityriasis/tinea versicolor. Conclusions: Opportunistic fungal infections remain highly prevalent in PLHIV, particularly among those with advanced immunosuppression. CD4+ T-cell counts are key diagnostic and prognostic markers, reinforcing their importance in monitoring disease progression and guiding clinical management. Full article

Studies of HIV-1 molecular epidemiology describe significant differences in HIV infection spread across geographical areas. We examined 80 HIV-1 samples from the Jewish Autonomous Region of Russia in 2024. HIV-1 genome sequences for 12 samples revealed a novel HIV-1 called CRF173_63A6. HIV-1 CRF173_63A6 was found to have arisen through recombination between a specific Russian A6 subtype and the recombinant virus CRF63_02A6, which is responsible for the PWID-associated HIV outbreak in the Siberian region of Russia. Phylogenetic analysis of pol sequences previously deposited in Genbank showed that the CRF173_63A6 samples we described are grouped into a common phylogenetic cluster that includes 54 HIV-1 samples isolated in the JAR and other areas of the Russian Far East, indicating a wide distribution of this virus genovariant. This study once again proves the significant contribution of the key PWID group not only to the development of local Russian HIV epidemics, but also to the change in the characteristics of the circulating virus population. Full article

Background and Objectives: Spitz tumors represent a diagnostic challenge in dermatopathology due to their large spectrum of morphological characteristics and overlap with malignant lesions, especially in pathology departments where molecular pathology is not available. Even though most Spitz lesions are benign, the uncertainty around their biological behavior necessitates an integrated approach in daily practice. The objective of our study was to evaluate the epidemiological, macroscopic, and histopathological characteristics of Spitz lesions in accordance with WHO Classification of Skin Tumours. Materials and Methods: We performed a retrospective, descriptive, and hypothesis-generating study on Spitz tumors diagnosed between 2018 and 2024 in the Clinical Pathology Department of the Mures Clinical County Hospital, Romania. We included 10 cases and analyzed their macroscopic characteristics (localization, shape, dimension, and color), microscopic characteristics (cellular types, cytologic atypia, pagetoid migration, mitoses, and the type of lesion), and immunohistochemical profile. Results: The study population was composed of young patients with an average age of 20.2 years old, with a slight predominance of female gender. Most lesions were Spitz nevi, intradermic, or compound, with a fusiform, epithelioid, or rhomboid cell shape. Pagetoid migration and cytological atypia were seen in fewer cases. The Ki 67 proliferation index was under 5% in all cases. The main limitation of this study involved the low number of cases and the lack of molecular testing, which limited the molecular characterization of Spitz tumors. Complete excision was performed in all cases. Conclusions: In the absence of molecular testing, our study emphasizes the importance of clinical–morphological assessment using immunohistochemistry in establishing a correct diagnosis in Spitz lesions. Our results confirm that most of the Spitz lesions were benign and provide a basis for future research with a multidisciplinary approach, including molecular testing. Full article

Background and Objectives: Limb–girdle muscular dystrophies (LGMDs) are a group of muscular dystrophies characterized by predominantly proximal-muscle weakness, with a highly heterogeneous genetic etiology. Despite recent efforts, the epidemiology of LGMDs is still under-evaluated. However, a better understanding of the distribution and genetic characteristics of LGMDs is required to optimize the diagnostic process and to address future research. Therefore, the aim of the present study is to investigate and identify new pathogenic variants, to better characterize LGMDs in Sicily. Methods: We enrolled patients with genetic and clinical diagnosis of LGMD referred to our clinic between the years 2019 and 2025. A targeted next-generation-sequencing (NGS) panel was performed, based on the reported disease frequency. A retrospective analysis of the clinical, laboratory, electrophysiological, and histological features was performed. Results: A total of 28 LGMDs patients aged 56.6 years (47.2–60.5 IQR) were identified (16 males, 57%). A molecular diagnosis was achieved in 24 (85.7%) of patients, most commonly carrying mutations in CAPN3 (14 patients, 50%), followed by DYSF, LAMA2, ANO5, FKTN and TTN genes. Pathogenic variants in CAPN3 and LAMA2 were associated with earlier onset and longer disease duration, whereas ANO5 presented later with a milder course. Cardiac involvement was observed more frequently in patients with LAMA2 and FKTN mutations. Association between heterozygous mutations in the CAPN3 and DYSF, as well as between CAPN3 and DMD variants were reported. Discussion: The findings of this study provide valuable insights into the epidemiology of LGMDs in the Western Sicily, offering important contributions to genotype–phenotype correlations. Our analysis highlights the role of genetic diagnosis in achieving accurate classification of the disease and optimizing clinical management. Full article

Background and Objectives: This retrospective single-center study aimed to evaluate the epidemiological, clinical, and laboratory characteristics of syphilis cases diagnosed at our hospital between 2005 and 2024, with a focus on the performance of serological tests used for diagnosis. The study also sought to characterize changing epidemiological trends of syphilis over this 20-year period. Materials and Methods: Data from 671 patients with confirmed syphilis diagnoses were retrospectively analyzed. Demographic information, transmission routes, co-infection status, and serological test results—including Rapid Plasma Reagin (RPR) and Indirect Hemagglutination Assay (IHA)—were evaluated. Statistical analyses were performed using chi-square and Fisher-based tests, with Bonferroni correction applied for multiple comparisons Results: Of the 671 cases, 74.6% were male and 25.4% female, with the highest incidence in the 22–41 age group. The number of diagnosed cases increased approximately 6-fold after 2016 compared to the preceding years. Unprotected sexual contact was the most common transmission route. HIV co-infection was present in 32.6% of cases, predominantly in males. Significant differences in RPR and IHA titers were observed across clinical stages of syphilis, with notably higher titers in late latent and neurosyphilis cases. Conclusions: The 6-fold increase in syphilis diagnoses since 2016, alongside a high rate of HIV co-infection, underscores the need for targeted prevention and screening programs for high-risk populations. Serological testing remains essential for diagnosis and disease monitoring. Full article

Introduction: Human metapneumovirus (HMPV), though commonly perceived as a pediatric pathogen, significantly impacts adults, yet its role in acute respiratory tract infections (ARTIs) remains underappreciated. The COVID-19 pandemic has reshaped respiratory virus epidemiology and amplified the need for comprehensive differential diagnosis. This study aimed to comprehensively investigate the prevalence, clinical characteristics, and post-COVID-19 trends of HMPV infection in adults and to elucidate its critical role in the differential diagnosis of ARTIs by distinguishing it from other common viral pathogens. Methods: This was a retrospective, multicenter study conducted across six hospitals within the Acibadem Hospitals Group in Istanbul, Turkey. Data were collected from two periods: January 2016 to January 2020 (pre-COVID-19) and January 2021 to September 2023 (post-COVID-19), excluding the peak pandemic phase (March 2020 to May 2021). Respiratory samples (sputum, BAL, nasopharyngeal/nasal/throat swabs) were analyzed using multiplex PCR (Seegene RV12-ACE), with an expanded panel including SARS-CoV-2 in the post-COVID-19 era. Demographic data, comorbidities, symptoms, hospitalization, and ICU admission rates were collected. Results: In the post-COVID-19 period, 2197 positive viral panels were recorded, an increase from 1357 in the pre-COVID period, reflecting enhanced testing. HMPV prevalence reached 9.7% post-COVID-19, making it the fourth most common respiratory virus in adults (8.7% of 644 positive adult tests), following SARS-CoV-2 (26.4%), influenza A (21.3%), and rhinovirus (17.5%). The average age of HMPV-infected adults was 52.14 years (18–90 years); 64% were female. While 52% had no comorbidities, common underlying conditions included hypertension (24%), cancer (12%), and diabetes (10%). Weakness (34%), lower respiratory symptoms (16%), and fever (12%) were frequent. A significant proportion of HMPV patients required hospitalization (34%) and ICU admission (18%), with 40% receiving antibiotics. Despite potential severity, the mortality rate was low (2.8%). No significant difference in severity was observed between HMPV monoinfection and co-infected groups (e.g., with influenza A, rhinovirus, SARS-CoV-2, parainfluenza virus 2). Conclusion: Our findings establish HMPV as a significant and increasingly prevalent respiratory pathogen among adults in Istanbul in the post-COVID-19 era. Its non-specific clinical presentation underscores the critical importance of multiplex PCR for accurate differential diagnosis, enabling appropriate patient management and antimicrobial stewardship. While HMPV can lead to severe outcomes requiring hospitalization and ICU admission, particularly in patients with comorbidities, the overall mortality rate remains low. Given the lack of specific antiviral treatments and vaccines, sustained surveillance and continued research into targeted interventions are crucial. Full article