Tag: nevin manimala

Spinal Cord. 2023 Mar 25. doi: 10.1038/s41393-023-00891-5. Online ahead of print.

ABSTRACT

STUDY DESIGN: Qualitative studies.

OBJECTIVE: To develop clear and specific administration and scoring procedures for the Spinal Cord Independence Measure Version 3.0 as a performance-based and interview assessment.

SETTING: Research lab.

METHODS: Modified Delphi Technique survey methods were used in this study. Previously developed SCIM-III administration and scoring procedures for performance-based and interview versions were presented to clinicians experienced in SCI and SCIM-III using the Qualtrix (Qualtrics, Provo, UT) online survey platform. Summary and descriptive statistics were used to assess the percent agreement survey responses.

RESULTS: Three survey rounds were necessary to achieve 80% agreement or above for the performance-based version. Two survey rounds were necessary to achieve 80% agreement or above on the interview version.

CONCLUSIONS: This study describes the development of standardized administration and scoring procedures for the self-care and mobility sub-scales of the SCIM-III as a performance-based and interview version.

PMID:36966259 | DOI:10.1038/s41393-023-00891-5

Commun Biol. 2023 Mar 25;6(1):324. doi: 10.1038/s42003-023-04679-4.

ABSTRACT

Gene-environment (G×E) interaction could partially explain missing heritability in traits; however, the magnitudes of G×E interaction effects remain unclear. Here, we estimate the heritability of G×E interaction for body mass index (BMI) by subjecting genome-wide interaction study data of 331,282 participants in the UK Biobank to linkage disequilibrium score regression (LDSC) and linkage disequilibrium adjusted kinships-software for estimating SNP heritability from summary statistics (LDAK-SumHer) analyses. Among 14 obesity-related lifestyle factors, MET score, pack years of smoking, and alcohol intake frequency significantly interact with genetic factors in both analyses, accounting for the partial variance of BMI. The G×E interaction heritability (%) and standard error of these factors by LDSC and LDAK-SumHer are as follows: MET score, 0.45% (0.12) and 0.65% (0.24); pack years of smoking, 0.52% (0.13) and 0.93% (0.26); and alcohol intake frequency, 0.32% (0.10) and 0.80% (0.17), respectively. Moreover, these three factors are partially validated for their interactions with genetic factors in other obesity-related traits, including waist circumference, hip circumference, waist-to-hip ratio adjusted with BMI, and body fat percentage. Our results suggest that G×E interaction may partly explain the missing heritability in BMI, and two G×E interaction loci identified could help in understanding the genetic architecture of obesity.

PMID:36966243 | DOI:10.1038/s42003-023-04679-4

Sci Rep. 2023 Mar 25;13(1):4917. doi: 10.1038/s41598-023-32123-4.

ABSTRACT

A cross-sectional study was performed at Hebei Medical University Fourth Affiliated Hospital from April to July 2020 to explore the difference and consistency between nurses and physicians in terms of symptomatic adverse event (AE) assessment. The Common Terminology Criteria for Adverse Events (CTCAE) was utilized by nurses and physicians to assess patients’ symptomatic AEs. Patients self-reported their AEs utilizing the Patient-Reported Outcomes Version of the Common Terminology Criteria for Adverse Events (PRO-CTCAE). Four nurses and three physicians were enrolled to assess patients’ symptomatic AEs. Given the same AEs, nurses tended to detect more AEs than physicians, and the differences were statistically significant (P < 0.001). The toxicity grade reported by nurses and physicians showed no difference for all AEs, except for fatigue (χ² = 5.083, P = 0.024). The agreement between nurses and patients was highest compared to the agreement between nurses versus physicians and physicians versus patients. The differences in symptomatic AE assessment can lead to different symptom management. Thus, it is important to establish a collaborative approach between nurses and physicians to ensure continuity in care delivery.

PMID:36966242 | DOI:10.1038/s41598-023-32123-4

Br J Cancer. 2023 Mar 25. doi: 10.1038/s41416-023-02229-7. Online ahead of print.

ABSTRACT

BACKGROUND: Costello syndrome (CS) is a cancer-predisposition disorder caused by germline pathogenic variants in HRAS. We conducted a systematic review using case reports and case series to characterise cancer risk in CS.

METHODS: We conducted a systematic review to identify CS cases to create a retrospective cohort. We tested genotype-phenotype correlations and calculated cumulative incidence and hazard rates (HR) for cancer and cancer-free death, standardised incidence rates (SIR) and survival after cancer.

RESULTS: This study includes 234 publications reporting 621 patients from 35 countries. Over nine percent had cancer, including rhabdomyosarcoma, bladder, and neuroblastoma. The rate of cancer and death associated with p.Gly12Ser were lower when compared to all other variants (P < 0.05). Higher mortality for p.Gly12Cys, p.Gly12Asp, p.Gly12Val and p.Gly60Val and higher malignancy rate for p.Gly12Ala were confirmed (P < 0.05). Cumulative incidence by age 20 was 13% (cancer) and 11% (cancer-free death). HR (death) was 3-4% until age 3. Statistically significant SIRs were found for rhabdomyosarcoma (SIR = 1240), bladder (SIR = 1971), and neuroblastoma (SIR = 60). Survival after cancer appeared reduced.

CONCLUSIONS: This is the largest investigation of cancer in CS to date. The high incidence and SIR values found to highlight the need for rigorous surveillance and evidence-based guidelines for this high-risk population.

PMID:36966234 | DOI:10.1038/s41416-023-02229-7

Infect Dis Ther. 2023 Mar 16. doi: 10.1007/s40121-023-00774-5. Online ahead of print.

ABSTRACT

INTRODUCTION: Pertussis, a highly infectious respiratory disease caused by Bordetella pertussis, affects people of all ages. Older adults are particularly susceptible to its severe outcomes and complications.

METHODS: In this retrospective cohort study, the incidence rate of pertussis among individuals aged ≥ 50 years was assessed during 2009-2018 using Clinical Practice Research Datalink and Hospital Episode Statistics databases, United Kingdom. Health care resource utilisation (HCRU) and direct medical costs (DMCs) were compared between patients with a pertussis diagnosis and propensity score-matched controls (matched on demographic and clinical variables).

RESULTS: Among 5,222,860 individuals, 1638 had a pertussis diagnosis (incidence rate: 5.8 per 100,000 person-years; 95% confidence interval 5.5-6.0). Baseline (- 18 to – 6 months) HCRU and DMC were similar among 1480 pertussis patients and 1480 matched controls. However, there were increases in HCRU in the pertussis vs. matched cohort around the pertussis diagnosis (from months – 6 to – 1 to 5-11). The most notable increases (pertussis vs. controls) were in the rates of general practitioner (GP)/nurse visits (4.7-fold), clinical assessments (4.1-fold), and accident and emergency visits (3.0-fold) during the month before diagnosis and GP/nurse visits during the 2 months after diagnosis (2.5-fold) (all p < 0.001). DMCs were significantly higher in the pertussis cohort (p < 0.001). Total excess DMC in the pertussis cohort during months – 1 to + 11 was £318 per patient.

CONCLUSION: A pertussis diagnosis among adults aged ≥ 50 years resulted in significant increases in HCRU and DMC across several months around diagnosis. These results highlight the need for increased awareness of pertussis infection among adults aged ≥ 50 years and suggest that pertussis booster doses among this population should be considered.

PMID:36966230 | DOI:10.1007/s40121-023-00774-5

Sci Rep. 2023 Mar 25;13(1):4885. doi: 10.1038/s41598-023-32152-z.

ABSTRACT

Visual-related quality of life in retinal diseases has not been explored in the Mexican population, so the study aims to identify it in patients undergoing surgery due to advanced diabetic retinopathy, rhegmatogenous retinal detachment, and other causes of vitrectomy; the Visual Function Quality-25 questionnaire was applied to 76 patients, pre-and postoperative. It was divided into 10 domains and interpreted according to the National Eye Institute scores, where the highest value was the best visual function. Student’s t-test for related samples and Wilcoxon’s t-test were used to compare each domain between measurements, and Pearson’s R test to correlate the total score of age and quality of life; a p value < 0.05 was considered significant. Diabetic retinopathy patients showed an improvement 1 and 3 months after surgery in all domains; in rhegmatogenous retinal detachment, there was an improvement observed up to 3 months, while a decrease in ocular pain was observed in other causes of vitrectomy. Differences found in all the quality-of-life scores were not statistical, but clinically significant. The study shows that visual-related quality of life domains improves after vitrectomy; the inclusion of this analysis might be considered relevant within the parameters of surgical success of the most prevalent vitreoretinal diseases.

PMID:36966208 | DOI:10.1038/s41598-023-32152-z

Sci Rep. 2023 Mar 25;13(1):4925. doi: 10.1038/s41598-023-32100-x.

ABSTRACT

Previous studies using immunoassays for steroid measurements have focused on the association between steroid hormone levels and bone mineral density (BMD) in postmenopausal women, obtaining contradictory results. This study aimed to assess this association using a highly sensitive bioanalytical method. A total of 68 postmenopausal women, aged 65-89 years, were enrolled in a cross-sectional study. Measurements of the BMD of the hip and lumbar spine were performed using dual energy X-ray absorptiometry, and serum hormone levels were quantified by gas chromatography and tandem mass spectrometry. Associations between estradiol (E2), testosterone, dehydroepiandrosterone (DHEA), androstenedione and T score levels of the hip and lumbar spine were evaluated, after adjustment for confounding variables. The analysis revealed a statistically significant association between testosterone and the T score of the hip (p = 0.035), but not that of the lumbar spine. No statistically significant associations were found between E2, DHEA, androstenedione and the T scores of the hip and the lumbar spine. Using a highly sensitive hormone assay method, our study identified a significant association between testosterone and BMD of the hip in women over 65 years of age, suggesting that lower testosterone increases the risk of osteoporosis.

PMID:36966199 | DOI:10.1038/s41598-023-32100-x

Pharmacogenomics J. 2023 Mar 25. doi: 10.1038/s41397-023-00302-1. Online ahead of print.

ABSTRACT

Previous observational studies reported associations between non-steroidal anti-inflammatory drugs (NSAIDs) and major depressive disorder (MDD), however, these associations are often inconsistent and underlying biological mechanisms are still poorly understood. We conducted a two-sample Mendelian randomisation (MR) study to examine relationships between genetic variants and NSAID target gene expression or DNA methylation (DNAm) using publicly available expression, methylation quantitative trait loci (eQTL or mQTL) data and genetic variant-disease associations from genome-wide association studies (GWAS of MDD). We also assessed drug exposure using gene expression and DNAm levels of NSAID targets as proxies. Genetic variants were robustly adjusted for multiple comparisons related to gene expression, DNAm was used as MR instrumental variables and GWAS statistics of MDD as the outcome. A 1-standard deviation (SD) lower expression of NEU1 in blood was related to lower C-reactive protein (CRP) levels of -0.215 mg/L (95% confidence interval (CI): 0.128-0.426) and a decreased risk of MDD (odds ratio [OR] = 0.806; 95% CI: 0.735-0.885; p = 5.36 × 10^-6). A concordant direction of association was also observed for NEU1 DNAm levels in blood and a risk of MDD (OR = 0.886; 95% CI: 0.836-0.939; p = 4.71 × 10^-5). Further, the genetic variants associated with MDD were mediated by NEU1 expression via DNAm (β = -0.519; 95% CI: -0.717 to -0.320256; p = 3.16 × 10^-7). We did not observe causal relationships between inflammatory genetic marker estimations and MDD risk. Yet, we identified a concordant association of NEU1 messenger RNA and an adverse direction of association of higher NEU1 DNAm with MDD risk. These results warrant increased pharmacovigilance and further in vivo or in vitro studies to investigate NEU1 inhibitors or supplements for MDD.

PMID:36966195 | DOI:10.1038/s41397-023-00302-1

Sci Rep. 2023 Mar 25;13(1):4905. doi: 10.1038/s41598-023-32173-8.

ABSTRACT

In the present study, various statistical and machine learning (ML) techniques were used to understand how device fabrication parameters affect the performance of copper oxide-based resistive switching (RS) devices. In the present case, the data was collected from copper oxide RS devices-based research articles, published between 2008 to 2022. Initially, different patterns present in the data were analyzed by statistical techniques. Then, the classification and regression tree algorithm (CART) and decision tree (DT) ML algorithms were implemented to get the device fabrication guidelines for the continuous and categorical features of copper oxide-based RS devices, respectively. In the next step, the random forest algorithm was found to be suitable for the prediction of continuous-type features as compared to a linear model and artificial neural network (ANN). Moreover, the DT algorithm predicts the performance of categorical-type features very well. The feature importance score was calculated for each continuous and categorical feature by the gradient boosting (GB) algorithm. Finally, the suggested ML guidelines were employed to fabricate the copper oxide-based RS device and demonstrated its non-volatile memory properties. The results of ML algorithms and experimental devices are in good agreement with each other, suggesting the importance of ML techniques for understanding and optimizing memory devices.

PMID:36966189 | DOI:10.1038/s41598-023-32173-8

NPJ Prim Care Respir Med. 2023 Mar 25;33(1):12. doi: 10.1038/s41533-022-00323-6.

ABSTRACT

Poor adherence to asthma preventer medication is associated with life-threatening asthma attacks. The quality and outcomes framework mandated primary care annual asthma review does not include adherence monitoring and the effect of poor adherence on lung function in paediatric primary care patients is unknown. The aim was to investigate the link between inhaled corticosteroid (ICS) adherence and spirometry, fraction of exhaled nitric oxide (FeNO) and asthma control in asthmatic school-age children in this cross-sectional observational study involving three Leicestershire general practices. Children 5-16 years on the practice’s asthma registers, were invited for a routine annual asthma review between August 2018 and August 2019. Prescription and clinical data were extracted from practice databases. Spirometry, bronchodilator reversibility (BDR) and FeNO testing were performed as part of the review. 130 of 205 eligible children (63.4%) attended their review. Mean adherence to ICS was 36.2% (SEM 2.1%) and only 14.6% of children had good adherence (≥75% prescriptions issued). We found no differences in asthma exacerbations in the preceding 12 months between the adherence quartiles. 28.6% of children in the lowest and 5.6% in the highest adherence quartile had BDR ≥ 12% but this was not statistically significant (p = 0.55). A single high FeNO value did not predict adherence to ICS. Adherence to ICS in children with asthma in primary care is poor. The link between adherence to ICS and asthma exacerbations, spirometry and FeNO is complex but knowledge of adherence to ICS is critical in the management of children with asthma.

PMID:36966170 | DOI:10.1038/s41533-022-00323-6