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Life (Basel, Switzerland) May 2024Haemophilia presents a significant challenge to the quality of life of affected individuals. Evaluating the health-related quality of life (HRQoL) of people with...
Haemophilia presents a significant challenge to the quality of life of affected individuals. Evaluating the health-related quality of life (HRQoL) of people with haemophilia (PwH) provides a valuable mean of assessing their perception of overall care outcomes, while also identifying influential factors across various age and condition severity demographics. This observational retrospective study determined the HRQoL of 100 adult PwH in Northern Greece through comprehensive analysis and interpretation of their HRQoL levels, particularly in domains concerning their physical, emotional, and mental well-being, obtained through the Haem-A-QoL index questionnaire. Disease severity and young age were significantly associated with the administration of prophylactic treatment (84.2% of patients with severe haemophilia and 65.2% of patients aged 18-30). The mean Haem-A-QoL score was 40.11 ± 17.38, with the lowest HRQoL observed in the 46-60 age group (46.16), and the highest in the ≥61 age groups (35.16). Notably, the 'Sports/Leisure' and 'Physical Health' domains exhibited the highest scores, in contrast to 'Family Planning' and 'Relationships/Sexuality'. Individuals with mild haemophilia recorded the lowest mean score (39.38), while those with a severe condition exhibited the highest (41.23). Age, disease severity, and physical activity emerged as primary determinants significantly affecting HRQoL outcomes.
PubMed: 38929680
DOI: 10.3390/life14060697 -
Diagnostics (Basel, Switzerland) Jun 2024Accurate prognostic prediction is crucial for managing Idiopathic Sudden Sensorineural Hearing Loss (ISSHL). Previous studies developing ISSHL prognosis models often...
BACKGROUND
Accurate prognostic prediction is crucial for managing Idiopathic Sudden Sensorineural Hearing Loss (ISSHL). Previous studies developing ISSHL prognosis models often overlooked individual variability in hearing damage by relying on fixed frequency domains. This study aims to develop models predicting ISSHL prognosis one month after treatment, focusing on patient-specific hearing impairments.
METHODS
Patient-Personalized Seigel's Criteria (PPSC) were developed considering patient-specific hearing impairment related to ISSHL criteria. We performed a statistical test to assess the shift in the recovery assessment when applying PPSC. The utilized dataset of 581 patients comprised demographic information, health records, laboratory testing, onset and treatment, and hearing levels. To reduce the model's reliance on hearing level features, we used only the averages of hearing levels of the impaired frequencies. Then, model development, evaluation, and interpretation proceeded.
RESULTS
The chi-square test (-value: 0.106) indicated that the shift in recovery assessment is not statistically significant. The soft-voting ensemble model was most effective, achieving an Area Under the Receiver Operating Characteristic Curve (AUROC) of 0.864 (95% CI: 0.801-0.927), with model interpretation based on the SHapley Additive exPlanations value.
CONCLUSIONS
With PPSC, providing a hearing assessment comparable to traditional Seigel's criteria, the developed models successfully predicted ISSHL recovery one month post-treatment by considering patient-specific impairments.
PubMed: 38928711
DOI: 10.3390/diagnostics14121296 -
International Journal of Molecular... Jun 2024Colorectal cancer (CRC) is a global health concern, necessitating adjuvant chemotherapy post-curative surgery to mitigate recurrence and enhance survival, particularly...
Colorectal cancer (CRC) is a global health concern, necessitating adjuvant chemotherapy post-curative surgery to mitigate recurrence and enhance survival, particularly in intermediate-stage patients. However, existing therapeutic disparities highlight the need for biomarker-guided adjuvant chemotherapy to achieve better CRC inhibition. This study explores the molecular mechanisms underlying the inhibition of CRC through a genome-wide association study (GWAS) focused on 5-fluorouracil (5-FU)-based adjuvant therapy in intermediate-stage CRC patients, a domain previously unexplored. We retrospectively included 226 intermediate-stage CRC patients undergoing surgical resection followed by 5-FU-based adjuvant chemotherapy. The exploration cohort comprised 31 patients, and the validation cohort included 195 individuals. Genotyping was carried out using either Axiom Genome-Wide TWB 2.0 Array Plate-based or polymerase chain reaction-based methods on genomic DNA derived from collected tissue samples. Statistical analyses involved descriptive statistics, Kaplan-Meier analyses, and Cox proportional hazard analyses. From the GWAS, potential genetic predictors, -rs62139523 and -rs10786578 genotypes, of 5-FU-based adjuvant therapy following surgery in intermediate-stage CRC patients were identified. Validation in a larger cohort of 195 patients emphasized the predictive significance of -rs62139523 genotypes, especially the "A/G" genotype, for improved overall and progression-free survival. This predictive association remained robust across various subgroups, with exceptions for specific demographic and clinical parameters such as age < 58 years old, CEA ≤ 2.5 ng/mL, tumor diameter > 44.0 mm, and tumor-free margin ≥ 50 mm. This study identifies that the -rs62139523 "A/G" genotype modulates therapeutic outcomes, establishing it as a promising biomarker for predicting favorable responses to 5-FU-based adjuvant chemotherapy in intermediate-stage CRC patients, although further investigations are needed to detail these mechanisms.
Topics: Humans; Colorectal Neoplasms; Fluorouracil; Chemotherapy, Adjuvant; Male; Female; Polymorphism, Single Nucleotide; Middle Aged; Aged; Genome-Wide Association Study; Biomarkers, Tumor; Retrospective Studies; Adult; Genotype; N-Acetylgalactosaminyltransferases; Prognosis; Treatment Outcome
PubMed: 38928347
DOI: 10.3390/ijms25126642 -
Cancers Jun 2024Osteoradionecrosis of the jaw (ORNJ) is a feared complication following radiation therapy performed for oncological treatment of head and neck cancers (HNC). To date,...
Osteoradionecrosis of the jaw (ORNJ) is a feared complication following radiation therapy performed for oncological treatment of head and neck cancers (HNC). To date, there is no clear evidence regarding the impact of surgical treatment of ORNJ on the quality of life (QoL) of affected patients. However, understanding the significance of the surgical treatment approach and its effects on QoL is an essential factor in the decision-making process for optimal, individualized therapy. In this prospective clinical study, QoL was assessed in relation to health related QoL (HRQoL) and oral health related QoL (OHQoL) before and after surgical treatment of ORNJ using standardized questionnaires (EORTC QLQ-C30, QLQ-HN35, OHIP-14). The overall QoL scores as well as individual domains of the collected scales regarding functional and symptom-related complaints were statistically analyzed. Subgroups concerning age, gender, different risk factors and type of ORNJ therapy were compared using Kruskal Wallis test. In addition, clinical and demographic patient data were collected and analyzed. QoL improvement correlated with the type of surgical ORNJ and the length of hospitalization. Better QoL scores were achieved post-operatively regarding different symptoms like pain, swallowing and mouth opening. Long-term effects of radiation therapy remained visibly restrictive to QoL and worsen over time.
PubMed: 38927961
DOI: 10.3390/cancers16122256 -
Genes Jun 2024Homozygosity for rs893403-GG genotype is linked to an increased risk of allograft rejection after kidney transplantation. Ischemia-reperfusion of the kidney allograft...
BACKGROUND
Homozygosity for rs893403-GG genotype is linked to an increased risk of allograft rejection after kidney transplantation. Ischemia-reperfusion of the kidney allograft leads to long term infiltration of activated and effector-memory T lymphocytes and resulting in rejection and long-term fibrosis. However, the genotype, expression under ischemic conditions and the long-term histopathological relationships remain ill-defined.
METHODS
We examined the impact of the recipient's -rs893403 genotype with transplant kidney histopathology. The association of the -rs893403 genotype and and mRNA expression in ischemic donor kidneys were also examined. Recipients who underwent transplant kidney biopsy were genotyped for the -rs893403 variant and associated deletion. Histopathological findings were compared between recipients with risk and non-risk genotypes. Real-time PCR and immunofluorescence staining for and expression were performed in non-utilized donor kidneys.
RESULTS
Demographic, clinical, and treatment characteristics and the histopathological diagnosis were similar between recipients with rs893403 GG and AA/AG genotype. The Banff tubulitis score was higher in GG recipients (n = 24) compared to AA/AG (n = 86) recipients (1.42 ± 0.65 vs. 1.12 ± 0.66, = 0.03). Ischemic kidneys with GG showed higher and mRNA expression than kidneys with AG. Kidneys with rs893403-GG had higher tubular LIMS1 and GCC2 immunohistochemical staining compared to kidneys with rs893403-AG.
CONCLUSIONS
Our data supports the role of the locus in kidney transplant rejection, particularly in lymphocyte infiltration into the internal aspect of the tubular basement membranes. Increased and expression in ischemic donor kidneys with the GG genotype require further studies.
Topics: Kidney Transplantation; Humans; Male; Female; Middle Aged; Adult; Genotype; LIM Domain Proteins; Kidney Tubules; Inflammation; Graft Rejection; Polymorphism, Single Nucleotide
PubMed: 38927709
DOI: 10.3390/genes15060773 -
Critical Care (London, England) Jun 2024Health-related quality of life (HRQoL) is one of the most important outcome variables for assessing the effectiveness of intensive care, together with mortality and... (Review)
Review
BACKGROUND
Health-related quality of life (HRQoL) is one of the most important outcome variables for assessing the effectiveness of intensive care, together with mortality and survival, where comorbidity is suggested to have high impact. However, studies are lacking that examine to what extent HRQoL is affected after a general ICU period, beyond that of the effects that may be claimed to be due to comorbidities.
DESIGN
Purpose-specific literature review including literature searches in PubMed, Cinahl, Scopus, and Cochrane library between 2010 and 2021.
MEASUREMENTS AND RESULTS
This Purpose-specific, i.e., task focused review examines HRQoL (assessed by either SF-36 or EQ-5D, > 30 days after leaving the hospital) in adult patients (≥ 18 years) having an ICU length of stay > 24 h. Further, the HRQoL comparisons were adjusted for age or comorbidity. A total of 11 publications were found. A majority comprised observational, prospective cohort studies, except three that were either case-control, cross-sectional comparison, or retrospective cohort studies. A total of 18,566 critically ill patients were included, and the response rate ranged from 16 to 94%. In all studies, a recurrent relevant finding was that HRQoL after ICU care was affected by pre-ICU comorbidities. In three studies (n = 3), which included a comorbidity adjusted control group, there were no effect of the critical care period itself on the registered HRQoL after the critical care period.
CONCLUSION
Health-Related Quality of Life (HRQoL) in former ICU patients appears to be primarily influenced by comorbidity. A notable limitation in this field of research is the high heterogeneity observed in the studies reviewed, particularly in terms of the HRQoL measurement tool employed, the duration of follow-up, the methodology for comorbidity assessment, and the adjustments for age and sex. Despite these variations and the limited number of studies in the review, the findings suggest a minimal HRQoL impact beyond the effects of comorbidity. Given the significant dearth of comprehensive studies in this domain, there is an escalating call for more thorough and detailed research endeavours.
Topics: Humans; Quality of Life; Comorbidity; Survivors; Critical Care; Critical Illness; Intensive Care Units
PubMed: 38926875
DOI: 10.1186/s13054-024-04997-x -
Alzheimer's Research & Therapy Jun 2024Although several cardiovascular, demographic, genetic and lifestyle factors have been associated with cognitive function, little is known about what type of cognitive...
BACKGROUND
Although several cardiovascular, demographic, genetic and lifestyle factors have been associated with cognitive function, little is known about what type of cognitive impairment they are associated with. The aim was to examine the associations between different risk factors and future memory and attention/executive functions, and their interaction with APOE genotype.
METHODS
Participants from a large, prospective, population-based, Swedish study were included (n = 3,229). Linear regression models were used to examine baseline hypertension, body mass index (BMI), long-term glucose levels (HbA), different lipid levels, physical activity, alcohol consumption, smoking, education, APOE genotype, age and sex. All models were adjusted for follow-up time and basic demographics, and, in a second step, all significant predictors were included to examine independent effects. Follow-up outcomes were memory and attention/executive functions.
RESULTS
The mean age at baseline was 56.1 (SD 5.7) years and 59.7% were women. The mean follow-up time was 17.4 (range 14.3-20.8) years. When examining independent effects, APOE ε4 genotype(p < 0.01), and higher HbA(p < 0.001), were associated with future low memory function. Higher BMI (p < 0.05), and HbA(p < 0.05), lower high-density lipoprotein cholesterol (HDL-C)(p < 0.05)and stroke(p < 0.001) were associated with future low attention/executive function. The strongest factors associated with both better memory and attention/executive functions were higher education and alcohol consumption. Further, significant interaction effects between predictors and APOE genotype were found. For memory function, the protective effects of education were greater among ɛ4-carriers(p < 0.05). For attention/executive function, the protective effects of alcohol were greater among ɛ2 or ɛ4-carriers(p < 0.05). Also, attention/executive function was lower among ɛ4-carriers with higher BMI(p < 0.05) and ɛ2-carriers with higher HbA1c-levels(p < 0.05).
CONCLUSIONS
Targeting cardiovascular risk factors in mid-life could have greater effect on future attention/executive functions rather than memory, whereas targeting diabetes could be beneficial for multiple cognitive domains. In addition, effects of different risk factors may vary depending on the APOE genotype. The varied cognitive profiles suggest that different mechanisms and brain regions are affected by the individual risk factors. Having detailed knowledge about the specific cognitive effects of different risk factors might be beneficial in preventive health counseling.
Topics: Humans; Female; Male; Middle Aged; Risk Factors; Follow-Up Studies; Prospective Studies; Sweden; Executive Function; Cognition; Attention; Body Mass Index; Memory; Glycated Hemoglobin; Aged; Alcohol Drinking; Genotype; Apolipoprotein E4; Neuropsychological Tests; Cognitive Dysfunction
PubMed: 38926747
DOI: 10.1186/s13195-024-01497-6 -
BMC Pediatrics Jun 2024The main cause of growth and development delays remains unknown, but it can occur as an interaction between genetic, environmental, and socio-economic factors.
BACKGROUND
The main cause of growth and development delays remains unknown, but it can occur as an interaction between genetic, environmental, and socio-economic factors.
OBJECTIVE
The aim of the study was to investigate the prevalence and social determinants of growth and developmental delays among children aged under five years in Qazvin, Iran.
METHODS
A cross-sectional study was conducted between January 2019 to December 2020 with participation of 1800 mothers with children aged 4-60 months who were referred to comprehensive health centers in Qazvin city, Iran. Structural and intermediate social determinants of health were assessed including: parents and children socio-demographic characteristics, families' living and economic status, parents' behavioral factors, household food security, mother's general health, and perceived social support. Children's growth was assessed based on their anthropometric assessment and their development was assessed using their age-specific Ages and Stages Questionnaire. Data were analyzed using univariable and multivariable logistic regression models using SPSS software version 24 and Stata version 14.
RESULTS
The prevalence of developmental problems in each domain were 4.28% for personal and social delay, 5.72% for gross motor delay, 6.5% for communication delay, 6.72% for fine motor delay, and 8% for problem-solving delay. The prevalence of weight growth delays was 13.56% and height growth delays was 4.66%. Communication, gross motor, and problem-solving delays were higher among children whose fathers' smoked cigarettes. Fine motor delays were lower among mothers with education status of high school diploma and university degree vs. the under diploma group. Personal and social delay was significantly higher among families with fair economic status and lower among children when their fathers were employed (vs. unemployed). Weight and height growth delays were higher among mothers who had experienced pregnancy complications and household food insecure families, respectively.
CONCLUSION
There are different predictors of growth and developmental delay problems among Iranian children aged under five years including fathers' smoking, families' economic status, and household food insecurity as well as history of mothers' pregnancy complications. The present study's findings can be used to screen for at-risk of growth and developmental delays among children and could help in designing and implementation of timely interventions.
Topics: Humans; Cross-Sectional Studies; Iran; Developmental Disabilities; Child, Preschool; Female; Prevalence; Infant; Male; Growth Disorders; Socioeconomic Factors; Social Determinants of Health; Child Development
PubMed: 38926691
DOI: 10.1186/s12887-024-04880-2 -
BMC Public Health Jun 2024Gambling is a popular leisure activity in many countries, often expected to boost regional economies. Nevertheless, its negative impacts remain a significant concern....
BACKGROUND
Gambling is a popular leisure activity in many countries, often expected to boost regional economies. Nevertheless, its negative impacts remain a significant concern. Gambling disorder is recognized as the most severe consequence; however, even non- or low-risk gamblers may also face negative impacts. This study aimed to estimate the number of Japanese gamblers experiencing gambling-related harm (GRH) and its distribution across six life domains, financial, relational, emotional, health, social and other aspects, based on the severity of their problem gambling risk.
METHODS
This cross-sectional study relied on an online survey conducted between August 5 and 11, 2020. Participants aged 20 years and above, who engaged in gambling during 2019 were recruited via a market research company. The survey assessed the prevalence of GRH 72 items among four gambler risk groups (non-problem, low-, moderate-, and high-risk), as categorized by the Problem Gambling Severity Index. The data was adjusted for population weighting using representative national survey data: the 2017 Comprehensive Survey of Living Conditions and the 2017 Epidemiological Survey on Gambling Addictions.
RESULTS
Out of the 28,016 individuals invited to the survey, 6,124 participated in the screening, 3,113 in the main survey, and 3,063 provided valid responses. After adjusting the survey data, it was estimated that 39.0 million (30.8%) of Japan's 126.8 million citizens gambled in 2019. Among them, 4.44 million (11.4%) experienced financial harm, 2.70 million (6.9%) health harm, 2.54 million (6.5%) emotional harm, 1.31 million (3.4%) work/study harm, 1.28 million (3.3%) relationship harm, and 0.46 million (1.2%) other harm. Although high-risk gamblers experienced severe harm at the individual level, over 60% of gamblers who experienced GRHs were non- and low-risk gamblers, with the exception of other harm, at the population level.
CONCLUSIONS
The study highlighted the prevention paradox of gambling in Japan. While national gambling policies primarily focus on the prevention and intervention for high-risk gamblers, a more effective approach would involve minimizing GRH across the entire population.
Topics: Humans; Gambling; Japan; Cross-Sectional Studies; Male; Adult; Female; Middle Aged; Young Adult; Surveys and Questionnaires; Aged; Cost of Illness; Prevalence
PubMed: 38926686
DOI: 10.1186/s12889-024-19197-z -
BMC Geriatrics Jun 202440-60% of persons living with dementia (PLWD) experience agitation and/or aggression symptoms. There is a need to understand the best method to detect agitation and/or...
OBJECTIVE
40-60% of persons living with dementia (PLWD) experience agitation and/or aggression symptoms. There is a need to understand the best method to detect agitation and/or aggression in PLWD. We aimed to identify agitation and/or aggression tools that are validated against a reference standard within the context of PLWD.
METHODS
Our study was registered on PROSPERO (CRD42020156708). We searched MEDLINE, Embase, and PsycINFO up to April 22, 2024. There were no language or date restrictions. Studies were included if they used any tools or questionnaires for detecting either agitation or aggression compared to a reference standard among PLWD, or any studies that compared two or more agitation and/or aggression tools in the population. All screening and data extraction were done in duplicates. Study quality was assessed using the Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) tool. Data extraction was completed in duplicates by two independent authors. We extracted demographic information, prevalence of agitation and/or aggression, and diagnostic accuracy measures. We also reported studies comparing the correlation between two or more agitation and/or aggression tools.
RESULTS
6961 articles were screened across databases. Six articles reporting diagnostic accuracy measures compared to a reference standard and 30 articles reporting correlation measurements between tools were included. The agitation domain of the Spanish NPI demonstrated the highest sensitivity (100%) against the agitation subsection of the Spanish CAMDEX. Single-study evidence was found for the diagnostic accuracy of commonly used agitation scales (BEHAVE-AD, NPI and CMAI).
CONCLUSIONS
The agitation domain of the Spanish NPI, the NBRS, and the PAS demonstrated high sensitivities, and may be reasonable for clinical implementation. However, a limitation to this finding is that despite an extensive search, few studies with diagnostic accuracy measurements were identified. Ultimately, more research is needed to understand the diagnostic accuracy of agitation and/or aggression detection tools among PLWD.
Topics: Humans; Aggression; Psychomotor Agitation; Dementia
PubMed: 38926638
DOI: 10.1186/s12877-024-05143-6