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Autism Research : Official Journal of... Jun 2024Autistic children vary in symptoms, co-morbidities, and response to interventions. This study aimed to identify clusters of autistic children with a distinct pattern of...
Autistic children vary in symptoms, co-morbidities, and response to interventions. This study aimed to identify clusters of autistic children with a distinct pattern of attaining early developmental milestones (EDMs). The clustering of 5836 autistic children was based on the attainment of 43 gross motor, fine motor, language, and social developmental milestones during the first 3 years of life as recorded in baby wellness visits. K-means cluster analysis detected four EDM clusters: mild (n = 1686); moderate (n = 1691); severe (n = 2265); and global (n = 194). The most prominent cluster differences were in the language domain. The global cluster showed earlier and greater developmental delay across domains, unique early gross motor delays, and more were born preterm via cesarean section. The severe cluster had poor language development prominently in the second year of life, and later fine motor delays. Moderate cluster had mainly language delays in the third year of life. The mild cluster mostly passed milestones. EDM clusters differed demographically, with higher socioeconomic status in mild cluster and lowest in global cluster. However, the severe cluster had more immigrant and non-Jewish mothers followed by the moderate cluster. The rates of parental concerns and provider developmental referrals were significantly higher in the global, followed by the severe, moderate, and mild EDM clusters. Autistic children's language and motor delay in the first 3 years can be grouped by common magnitude and onset profiles as distinct groups that may link to specific etiologies (like prematurity or genetics) and specific intervention programs. Early autism screening should be tailored to these different developmental profiles.
PubMed: 38932567
DOI: 10.1002/aur.3177 -
Nutrients Jun 2024This retrospective cohort study explored the prevalence of substantial weight loss (≥10% per year) in independent older individuals in order to develop and validate a...
This retrospective cohort study explored the prevalence of substantial weight loss (≥10% per year) in independent older individuals in order to develop and validate a scoring system for high-risk group identification and targeted intervention against malnutrition. We used insurance claims and the Kokuho Database (KDB), a nationwide repository of Japanese-specific health checkups and health assessments for the older people. The study included 12,882 community-dwelling individuals aged 75 years and older who were self-supported in their activities of daily living in Saga Prefecture, Japan. Health evaluations and questionnaires categorized weight-loss factors into organic, physiological, psychological, and non-medical domains. The resulting scoring system (SAGA score), incorporating logistic regression models, predicted ≥ 10% annual weight-loss risk. The results revealed a 1.7% rate of annual substantial weight loss, with the SAGA score effectively stratifying the participants into low-, intermediate-, and high-risk categories. The high-risk category exhibited a weight-loss rate of 17.6%, highlighting the utility of this scoring system for targeted prevention. In conclusion, the validated SAGA score is a crucial tool for identifying individuals at high risk of significant weight loss, enabling tailored interventions and social support benefiting both older individuals and their relatives.
Topics: Humans; Aged; Weight Loss; Female; Male; Independent Living; Retrospective Studies; Aged, 80 and over; Japan; Geriatric Assessment; Activities of Daily Living; Surveys and Questionnaires; Risk Factors; Malnutrition; Risk Assessment; Reproducibility of Results; Prevalence
PubMed: 38931203
DOI: 10.3390/nu16121848 -
Journal of Clinical Medicine Jun 2024: Hand burns are involved in 80-90% of severe burn injuries. Even though hands correspond to a small total burn surface area (TBSA) of less than 5%, the loss of their...
: Hand burns are involved in 80-90% of severe burn injuries. Even though hands correspond to a small total burn surface area (TBSA) of less than 5%, the loss of their functionality has a significant impact on the patient's life. Studies that provide long-term results regarding hand functionality after hand burns are scarce. Therefore, this study aimed to investigate functional long-term results in a patient-centric approach regarding burn depth, unilateral and bilateral hand involvement, and (non-)isolated hand burns as potential influencing factors in patients with hand burns. : We conducted a controlled cohort study of patients with burned hands treated at our department between 2005 and 2022. Healthy age-, sex-, and handedness-matched participants were used as controls. Data on the demographics, burn-related injuries, and treatments were collected. For a patient-centric approach, we used the Disabilities of the Arm, Shoulder, and Hand Questionnaire (Quick-DASH) and the Michigan Hand Questionnaire (MHQ) as patient-reported outcome measures for functional long-term evaluation, and the Patient and Observer Scar Assessment Scale (patient scale) for assessing long-term scar quality. : We enrolled 61 patients with 88 affected hands and 63 matched control participants. Up to 77.1% of the participants were male, with a mean age of 50.7 (±15.5) years and a follow-up of 8.1 (±4.7) years. The mean TBSA was 13.9% (±15.8), with 72.4% of the hands presenting with deep partial-thickness and full-thickness burns and most of the patients had only one hand affected (55.7%). The hand burn patients perceived significantly worse long-term functional scores in every domain of the MHQ as well as in the "overall function" and "work" of the Quick-DASH. Superficial hand burns negatively affected the two-handed activities of daily living ( = 0.013) and aesthetic appearance ( = 0.005) when both hands were involved. Isolated hand burns were associated with more difficulties in work performance ( = 0.03), whereas patients with bilateral hand involvement perceived more pain ( = 0.025). : The patients with hand burns can achieve satisfactory long-term functional outcomes over time, but they do not reach the same long-term hand functionality as the healthy matched control group. Our study revealed that factors such as burn depth, unilateral or bilateral hand involvement, and (non-)isolated hand burns indeed have an impact on certain aspects of perceived long-term hand functionality.
PubMed: 38930038
DOI: 10.3390/jcm13123509 -
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