Tag: statistics

Orphanet J Rare Dis. 2023 Apr 29;18(1):98. doi: 10.1186/s13023-023-02697-3.

ABSTRACT

BACKGROUND: This study measured sleep quality among caregivers of patients with Dravet syndrome (DS) and assessed the impacts of mental health problems and caregiver burden on sleep quality.

METHODS: This multicenter, cross-sectional study of patients with DS and their caregivers throughout Germany consisted of a questionnaire and a prospective 4-week diary querying disease characteristics, demographic data, living conditions, nocturnal supervision, and caregivers’ work situations. Sleep quality was assessed using the Pittsburgh Sleeping Quality Index (PSQI). The Hospital Anxiety and Depression Scale (HADS) and the Burden Scale for Family Caregivers (BSFC) were used to measure anxiety, symptoms of depression, and caregiver burden.

RESULTS: Our analysis included 108 questionnaires and 82 four-week diaries. Patients with DS were 49.1% male (n = 53), with a mean age of 13.5 ± 10.0 years. Caregivers were 92.6% (n = 100) female, with a mean age of 44.7 ± 10.6 years. The overall mean PSQI score was 8.7 ± 3.5, with 76.9% of participants (n = 83) scoring 6 or higher, indicating abnormal sleep quality. The HADS for anxiety and depression had overall mean scores of 9.3 ± 4.3 and 7.9 ± 3.7, respectively; 61.8% and 50.9% of participants scored above the cutoff value of 8 for anxiety and depression, respectively. Statistical analyses revealed caregiver anxiety levels and patients’ sleep disturbances as major factors influencing PSQI scores. The overall mean BSFC score of 41.7 ± 11.7 indicates a moderate burden, with 45.3% of caregivers scoring 42 or higher.

CONCLUSIONS: Sleep quality is severely affected among caregivers of patients with DS, correlating with anxiety, comorbidities, and patients’ sleep disturbances. A holistic therapeutic approach should be implemented for patients with DS and their caregivers, focusing on the sleep quality and mental health of caregivers.

TRIAL REGISTRATION: German Clinical Trials Register (DRKS), DRKS00016967. Registered 27 May 2019, http://www.drks.de/DRKS00016967.

PMID:37120555 | DOI:10.1186/s13023-023-02697-3

Clin Epigenetics. 2023 Apr 29;15(1):71. doi: 10.1186/s13148-023-01471-3.

ABSTRACT

BACKGROUND: Clear cell renal cell cancer (ccRCC), the 8th leading cause of cancer-related death in the US, is challenging to treat due to high level intratumoral heterogeneity (ITH) and the paucity of druggable driver mutations. CcRCC is unusual for its high frequency of epigenetic regulator mutations, such as the SETD2 histone H3 lysine 36 trimethylase (H3K36me3), and low frequency of traditional cancer driver mutations. In this work, we examined epigenetic level ITH and defined its relationships with pathologic features, aspects of tumor biology, and SETD2 mutations.

RESULTS: A multi-region sampling approach coupled with EPIC DNA methylation arrays was conducted on a cohort of normal kidney and ccRCC. ITH was assessed using DNA methylation (5mC) and CNV-based entropy and Euclidian distances. We found elevated 5mC heterogeneity and entropy in ccRCC relative to normal kidney. Variable CpGs are highly enriched in enhancer regions. Using intra-class correlation coefficient analysis, we identified CpGs that segregate tumor regions according to clinical phenotypes related to tumor aggressiveness. SETD2 wild-type tumors overall possess greater 5mC and copy number ITH than SETD2 mutant tumor regions, suggesting SETD2 loss contributes to a distinct epigenome. Finally, coupling our regional data with TCGA, we identified a 5mC signature that links regions within a primary tumor with metastatic potential.

CONCLUSION: Taken together, our results reveal marked levels of epigenetic ITH in ccRCC that are linked to clinically relevant tumor phenotypes and could translate into novel epigenetic biomarkers.

PMID:37120552 | DOI:10.1186/s13148-023-01471-3

BMC Health Serv Res. 2023 Apr 29;23(1):413. doi: 10.1186/s12913-023-09441-4.

ABSTRACT

BACKGROUND: International guidelines recommend percutaneous coronary intervention (PCI) to treat acute myocardial infarction (AMI) if PCI can be performed within two hours. PCI is a centralized treatment, and therefore a common trade-off is whether to send AMI patients directly to a hospital that performs PCI, or postpone a potential PCI-treatment by first receiving acute treatment at a local hospital that can not perform PCI. In this paper, we estimate the effect of sending patients directly to a PCI-hospital on AMI mortality.

METHODS: Using nation-wide individual-level data from 2010 to 2015, we studied mortality rates for AMI patients sent directly to a hospital that performs PCI (N=20 336) compared to AMI patients sent to a hospital not performing PCI (N=33 437). Since the underlying health of patients may affect both hospital assignment and mortality, estimates from traditional multivariate risk adjustment models are likely biased. We therefore apply an instrumental variable (IV) model using the historical municipal share sent directly to a PCI-hospital as an instrument for being sent directly to a PCI-hospital.

RESULTS: Patients sent directly to a PCI-hospital are younger and have fewer comorbidities than patients who are first sent to a non-PCI-hospital. IV results suggest that those initially sent to PCI-hospitals have 4.8 percentage points decrease (95% CI (- 18.1)-8.5) in mortality after one month compared to those initially sent to non-PCI-hospitals.

CONCLUSION: Our IV results suggest that there is a non-significant decrease in mortality for AMI patients sent directly to a PCI hospital. The estimates are too imprecise to conclude that health personnel should change their practice and send more patients directly to a PCI-hospital. Moreover, the results may be taken to suggest that health personnel navigate AMI patients to the best treatment option.

PMID:37120541 | DOI:10.1186/s12913-023-09441-4

Biomed Eng Online. 2023 Apr 29;22(1):40. doi: 10.1186/s12938-023-01107-w.

ABSTRACT

BACKGROUND: The progression of Alzheimer’s dementia (AD) can be classified into three stages: cognitive unimpairment (CU), mild cognitive impairment (MCI), and AD. The purpose of this study was to implement a machine learning (ML) framework for AD stage classification using the standard uptake value ratio (SUVR) extracted from ¹⁸F-flortaucipir positron emission tomography (PET) images. We demonstrate the utility of tau SUVR for AD stage classification. We used clinical variables (age, sex, education, mini-mental state examination scores) and SUVR extracted from PET images scanned at baseline. Four types of ML frameworks, such as logistic regression, support vector machine (SVM), extreme gradient boosting, and multilayer perceptron (MLP), were used and explained by Shapley Additive Explanations (SHAP) to classify the AD stage.

RESULTS: Of a total of 199 participants, 74, 69, and 56 patients were in the CU, MCI, and AD groups, respectively; their mean age was 71.5 years, and 106 (53.3%) were men. In the classification between CU and AD, the effect of clinical and tau SUVR was high in all classification tasks and all models had a mean area under the receiver operating characteristic curve (AUC) > 0.96. In the classification between MCI and AD, the independent effect of tau SUVR in SVM had an AUC of 0.88 (p < 0.05), which was the highest compared to other models. In the classification between MCI and CU, the AUC of each classification model was higher with tau SUVR variables than with clinical variables independently, which yielded an AUC of 0.75(p < 0.05) in MLP, which was the highest. As an explanation by SHAP for the classification between MCI and CU, and AD and CU, the amygdala and entorhinal cortex greatly affected the classification results. In the classification between MCI and AD, the para-hippocampal and temporal cortex affected model performance. Especially entorhinal cortex and amygdala showed a higher effect on model performance than all clinical variables in the classification between MCI and CU.

CONCLUSIONS: The independent effect of tau deposition indicates that it is an effective biomarker in classifying CU and MCI into clinical stages using MLP. It is also very effective in classifying AD stages using SVM with clinical information that can be easily obtained at clinical screening.

PMID:37120537 | DOI:10.1186/s12938-023-01107-w

BMC Musculoskelet Disord. 2023 Apr 29;24(1):339. doi: 10.1186/s12891-023-06451-5.

ABSTRACT

BACKGROUND: Lumbosacral canal stenosis is known as the most common cause of back surgery with several complications. Selecting a minimally invasive treatment with high efficacy in such patients is necessary. This study was designed to evaluate the effectiveness of ozone therapy in combination with caudal epidural steroid in patients with lumbar spinal stenosis.

METHODS: A double-blind randomized clinical trial was conducted on 50 patients with lumbar spinal stenosis allocated into two study groups. Under ultrasound guidance, the first group received 80 mg of triamcinolone hexavalent with 4 mL of Marcaine 0.5% and 6 mL of distilled water to the caudal epidural space. The second group received an injection similar to the first group, combined with 10 mL of ozone (O2-O3) gas at a concentration of 10 µg/cc. The patients were followed at baseline, one, and six months after injection with clinical outcomes measures using Visual Analog Scale (VAS), Walking Distance (WD) and Oswestry Disability Index (ODI).

RESULTS: The mean age of subjects, 30 males (60%) and 20 females (40%), was reported as 64.51 ± 7.19 years old. Reduction of pain intensity based on VAS score was statistically significant in both groups at follow-up periods (P < 0.001). The VAS changes in the first month and sixth months showed no significant difference between the two groups (P = 0.28 and P = 0.33, respectively). The improvement in disability index (ODI) in both types of treatment during follow-up was significant (P < 0.0001), and there was no difference between the two treatment groups in one month and six months (P = 0.48 and P = 0.88, respectively). As for walking distance, the improvement process with both types of treatment during follow-up periods was significant (P < 0.001). However, after one and six months of treatment, the rate of improvement in patients’ walking distance in the caudal epidural steroid injection plus ozone group was significantly higher than in the epidural steroid group (p = 0.026 and p = 0.017, respectively).

CONCLUSIONS: In this study, the results of VAS and ODI outcomes showed that caudal epidural steroid injection combined with ozone has no advantage over caudal epidural steroid injection alone. Interestingly, our results demonstrated that the group receiving caudal epidural steroid injection plus ozone scored significantly higher on the walking distance index than the group receiving caudal epidural steroid alone.

TRIAL REGISTRATION: IRCT IRCT20090704002117N2 (registration date: 07/08/2019).

PMID:37120532 | DOI:10.1186/s12891-023-06451-5

BMC Plant Biol. 2023 Apr 29;23(1):228. doi: 10.1186/s12870-023-04215-w.

ABSTRACT

BACKGROUND: Moth bean (Vigna aconitifolia) is an underutilized, protein-rich legume that is grown in arid and semi-arid areas of south Asia and is highly resistant to abiotic stresses such as heat and drought. Despite its economic importance, the crop remains unexplored at the genomic level for genetic diversity and trait mapping studies. To date, there is no report of SNP marker discovery and association mapping of any trait in this crop. Therefore, this study aimed to dissect the genetic diversity, population structure and marker-trait association for the flowering trait in a diversity panel of 428 moth bean accessions using genotyping by sequencing (GBS) approach.

RESULTS: A total of 9078 high-quality single nucleotide polymorphisms (SNPs) were discovered by genotyping of 428 moth bean accessions. Model-based structure analysis and PCA grouped the moth bean accessions into two subpopulations. Cluster analysis revealed accessions belonging to the Northwestern region of India had higher variability than accessions from the other regions suggesting that this region represents its center of diversity. AMOVA revealed more variations within individuals (74%) and among the individuals (24%) than among the populations (2%). Marker-trait association analysis using seven multi-locus models including mrMLM, FASTmrEMMA FASTmrEMMA, ISIS EM-BLASSO, MLMM, BLINK and FarmCPU revealed 29 potential genomic regions for the trait days to 50% flowering, which were consistently detected in three or more models. Analysis of the allelic effect of the major genomic regions explaining phenotypic variance of more than 10% and those detected in at least 2 environments showed 4 genomic regions with significant phenotypic effect on this trait. Further, we also analyzed genetic relationships among the Vigna species using SNP markers. The genomic localization of moth bean SNPs on genomes of closely related Vigna species demonstrated that maximum numbers of SNPs were getting localized on Vigna mungo. This suggested that the moth bean is most closely related to V. mungo.

CONCLUSION: Our study shows that the north-western regions of India represent the center of diversity of the moth bean. Further, the study revealed flowering-related genomic regions/candidate genes which can be potentially exploited in breeding programs to develop early-maturity moth bean varieties.

PMID:37120525 | DOI:10.1186/s12870-023-04215-w

J Neuroeng Rehabil. 2023 Apr 29;20(1):55. doi: 10.1186/s12984-023-01178-9.

ABSTRACT

BACKGROUND: An incomplete spinal cord injury (SCI) refers to remaining sensorimotor function below the injury with the possibility for the patient to regain walking abilities. However, these patients often suffer from diverse gait deficits, which are not objectively assessed in the current clinical routine. Wearable inertial sensors are a promising tool to capture gait patterns objectively and started to gain ground for other neurological disorders such as stroke, multiple sclerosis, and Parkinson’s disease. In this work, we present a data-driven approach to assess walking for SCI patients based on sensor-derived outcome measures. We aimed to (i) characterize their walking pattern in more depth by identifying groups with similar walking characteristics and (ii) use sensor-derived gait parameters as predictors for future walking capacity.

METHODS: The dataset analyzed consisted of 66 SCI patients and 20 healthy controls performing a standardized gait test, namely the 6-min walking test (6MWT), while wearing a sparse sensor setup of one sensor attached to each ankle. A data-driven approach has been followed using statistical methods and machine learning models to identify relevant and non-redundant gait parameters.

RESULTS: Clustering resulted in 4 groups of patients that were compared to each other and to the healthy controls. The clusters did differ in terms of their average walking speed but also in terms of more qualitative gait parameters such as variability or parameters indicating compensatory movements. Further, using longitudinal data from a subset of patients that performed the 6MWT several times during their rehabilitation, a prediction model has been trained to estimate whether the patient’s walking speed will improve significantly in the future. Including sensor-derived gait parameters as inputs for the prediction model resulted in an accuracy of 80%, which is a considerable improvement of 10% compared to using only the days since injury, the present 6MWT distance, and the days until the next 6MWT as predictors.

CONCLUSIONS: In summary, the work presented proves that sensor-derived gait parameters provide additional information on walking characteristics and thus are beneficial to complement clinical walking assessments of SCI patients. This work is a step towards a more deficit-oriented therapy and paves the way for better rehabilitation outcome predictions.

PMID:37120519 | DOI:10.1186/s12984-023-01178-9

Eur Neuropsychopharmacol. 2023 Apr 17;73:24-35. doi: 10.1016/j.euroneuro.2023.04.008. Online ahead of print.

ABSTRACT

The objective of this study is to quantify the impact of the COVID-19 pandemic on attention deficit hyperactivity disorder (ADHD) medication consumption globally and nationally using pharmaceutical sales data from 2014 to 2021 across 47 countries and regions. A seasonal autoregressive integrated moving average model (SARIMA) was applied to the time series until the end of 2019 at country level and used for the prediction of the ADHD medication consumption in 2020 and 2021. The deviations from the actual to the forecasted sales, which simulate the development without the emergence of COVID-19, yield estimates for the pandemic’s impact. In 36 of the 47 countries and regions, the actual sales in 2020 were lower than predicted, with an average relative drop of 6.2% in defined daily doses (DDD) per 1000 inhabitants per day at country-level. In 2021, most countries recorded actually higher ADHD medication use than predicted at the end of 2019. On average, the consumption increased per country by 1.60%. The deviations strongly correlate with the stringency of anti-pandemic government policies. The findings suggest that the pandemic led to a substantially lower consumption of ADHD medication in 2020. However, in 2021 the pandemic had an accelerating effect as the increasing consumption trends are more pronounced than before the pandemic.

PMID:37119560 | DOI:10.1016/j.euroneuro.2023.04.008

J Forensic Leg Med. 2023 Apr 21;96:102525. doi: 10.1016/j.jflm.2023.102525. Online ahead of print.

ABSTRACT

BACKGROUND: Reaction time (RT) is the interval between a stimulus and an appropriate voluntary response in an individual. Alcohol is known to result in delayed RT. In Sri Lanka, an alleged drunken driver is legally subjected to a medico-legal examination to confirm or exclude impairment. The guideline for examining a drunk person in Sri Lanka includes the ruler drop test (RDT) as a test of RT. RDT is a simple test of visual reaction time in which the subject attempts to stop a falling ruler, and the height fallen is used to determine the time taken to react to the event. However, a formal study has yet to be carried out to establish population-specific reference values to interpret RDT results.

METHODS: A cross-sectional descriptive study was conducted using 903 adults ≥18 years. A nonparametric approach was applied for deriving the reference values based on an inter-percentile interval.

RESULTS: The study population consisted of 56.6% females, and the mean age of the participants was 41.6 years. Most (95%) of the study population could catch the ruler at or less than 40.0 cm of average height. The average height on RDT increased from younger to older age groups. However, subgrouping based on other variables, including sex, age, and alcohol consumption, did not show any statistically significant difference.

CONCLUSIONS: The population-specific cut-off limit to identify alcohol intoxication by RDT in a Sri Lankan adult is ‘average height’ >40 cm.

PMID:37119545 | DOI:10.1016/j.jflm.2023.102525

Adv Mind Body Med. 2023 Winter;37(1):4-10.

ABSTRACT

CONTEXT: Type 2 diabetes mellitus (T2DM) patients are at increased risk of cognitive impairment and dementia compared to healthy individuals. Lifestyle practices such as yoga can have a vital role in preventing and managing T2DM. Some studies have found that yoga can positively impact cognitive function in T2DM.

OBJECTIVE: The study aimed to investigate the benefits of short-term yoga practice on heart rate variability (HRV) and cognitive function for T2DM patients, without a matched control group, to address the paucity of data on the effectiveness of yoga practice on cognitive health on T2DM individuals.

DESIGN: Current study is a single group pre post design.

SETTING: The study took place in the Department of Yoga and Life Sciences at Swami Vivekananda Yoga Anusandhana Samsthana (S-VYASA) in Bangalore, India.

PARTICIPANTS: Participants were 21 T2DM patients from various hospitals, clinics and community setups, in different parts of Bengaluru city in India.

INTERVENTION: The participants took part in one month of yoga practice.

OUTCOME MEASURES: The research team used the Madrid card sorting test (MCST) to assess participants’ executive function (EF) at baseline and postintervention. In addition, the team monitored participants’ heart rate variability (HRV) in a resting phase and during task performance.

RESULTS: Between baseline and postintervention: (1) participants’ reaction time for the MCST decreased for overall task performance (P = .01) and during rule shifting (P = .03); (2) a significant reduction occurred in participants’ random errors (REs) and incorrect responses, at P = .02 for both, whereas a significant increase occurred in correct responses and efficient errors (EEs), at P = .03 and P = .01, respectively; (3) the low frequency (LF) and LF/high frequency (HF ) ratio for the HRV decreased; HF increased but the difference wasn’t statistically significant; and (4) a statistically significant decrease occurred in LF and LF/HF and an increase in HF occurred during task performance.

CONCLUSION: Yoga therapy had beneficial effects on cognitive performance for the T2DM participants. The yoga practice also positively affected autonomic functions during task performance and suggesting that it can reduce task-induced stress. It’s important for the future studies to validate the current findings with a randomized controlled trial.

PMID:37119540