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Nevin Manimala Statistics

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome

Front Aging Neurosci. 2023 Jan 6;14:1073258. doi: 10.3389/fnagi.2022.1073258. eCollection 2022.

ABSTRACT

INTRODUCTION: Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55-200 CGGs). Clinical symptoms in FXTAS patients usually begin with an action tremor. After that, different findings including ataxia, and more variably, loss of sensation in the distal lower extremities and autonomic dysfunction, may occur, and gradually progress. Cognitive deficits are also observed, and include memory problems and executive function deficits, with a gradual progression to dementia in some individuals. Aquaporin 4 (AQP4) is a commonly distributed water channel in astrocytes of the central nervous system. Changes in AQP4 activity and expression have been implicated in several central nervous system disorders. Previous studies have suggested the associations of AQP4 single nucleotide polymorphisms (SNPs) with brain-water homeostasis, and neurodegeneration disease. To date, this association has not been studied in FXTAS.

METHODS: To investigate the association of AQP4 SNPs with the risk of presenting FXTAS, a total of seven common AQP4 SNPs were selected and genotyped in 95 FMR1 premutation carriers with FXTAS and in 65 FMR1 premutation carriers without FXTAS.

RESULTS: The frequency of AQP4-haplotype was compared between groups, denoting 26 heterozygous individuals and 5 homozygotes as carriers of the minor allele in the FXTAS group and 25 heterozygous and 2 homozygotes in the no-FXTAS group. Statistical analyses showed no significant associations between AQP4 SNPs/haplotypes and development of FXTAS.

DISCUSSION: Although AQP4 has been implicated in a wide range of brain disorders, its involvement in FXTAS remains unclear. The identification of novel genetic markers predisposing to FXTAS or modulating disease progression is critical for future research involving predictors and treatments.

PMID:36688175 | PMC:PMC9853890 | DOI:10.3389/fnagi.2022.1073258

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Decreased default mode network functional connectivity with visual processing regions as potential biomarkers for delayed neurocognitive recovery: A resting-state fMRI study and machine-learning analysis

Front Aging Neurosci. 2023 Jan 6;14:1109485. doi: 10.3389/fnagi.2022.1109485. eCollection 2022.

ABSTRACT

OBJECTIVES: The abnormal functional connectivity (FC) pattern of default mode network (DMN) may be key markers for early identification of various cognitive disorders. However, the whole-brain FC changes of DMN in delayed neurocognitive recovery (DNR) are still unclear. Our study was aimed at exploring the whole-brain FC patterns of all regions in DMN and the potential features as biomarkers for the prediction of DNR using machine-learning algorithms.

METHODS: Resting-state functional magnetic resonance imaging (fMRI) was conducted before surgery on 74 patients undergoing non-cardiac surgery. Seed-based whole-brain FC with 18 core regions located in the DMN was performed, and FC features that were statistically different between the DNR and non-DNR patients after false discovery correction were extracted. Afterward, based on the extracted FC features, machine-learning algorithms such as support vector machine, logistic regression, decision tree, and random forest were established to recognize DNR. The machine learning experiment procedure mainly included three following steps: feature standardization, parameter adjustment, and performance comparison. Finally, independent testing was conducted to validate the established prediction model. The algorithm performance was evaluated by a permutation test.

RESULTS: We found significantly decreased DMN connectivity with the brain regions involved in visual processing in DNR patients than in non-DNR patients. The best result was obtained from the random forest algorithm based on the 20 decision trees (estimators). The random forest model achieved the accuracy, sensitivity, and specificity of 84.0, 63.1, and 89.5%, respectively. The area under the receiver operating characteristic curve of the classifier reached 86.4%. The feature that contributed the most to the random forest model was the FC between the left retrosplenial cortex/posterior cingulate cortex and left precuneus.

CONCLUSION: The decreased FC of DMN with regions involved in visual processing might be effective markers for the prediction of DNR and could provide new insights into the neural mechanisms of DNR.

CLINICAL TRIAL REGISTRATION: : Chinese Clinical Trial Registry, ChiCTR-DCD-15006096.

PMID:36688167 | PMC:PMC9853194 | DOI:10.3389/fnagi.2022.1109485

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Neurofilament light level correlates with brain atrophy, and cognitive and motor performance

Front Aging Neurosci. 2023 Jan 5;14:939155. doi: 10.3389/fnagi.2022.939155. eCollection 2022.

ABSTRACT

BACKGROUND: The usefulness of neurofilament light (NfL) as a biomarker for small vessel disease has not been established. We examined the relationship between NfL, neuroimaging changes, and clinical findings in subjects with varying degrees of white matter hyperintensity (WMH).

METHODS: A subgroup of participants (n = 35) in the Helsinki Small Vessel Disease Study underwent an analysis of NfL in cerebrospinal fluid (CSF) as well as brain magnetic resonance imaging (MRI) and neuropsychological and motor performance assessments. WMH and structural brain volumes were obtained with automatic segmentation.

RESULTS: CSF NfL did not correlate significantly with total WMH volume (r = 0.278, p = 0.105). However, strong correlations were observed between CSF NfL and volumes of cerebral grey matter (r = -0.569, p < 0.001), cerebral cortex (r = -0.563, p < 0.001), and hippocampi (r = -0.492, p = 0.003). CSF NfL also correlated with composite measures of global cognition (r = -0.403, p = 0.016), executive functions (r = -0.402, p = 0.017), memory (r = -0.463, p = 0.005), and processing speed (r = -0.386, p = 0.022). Regarding motor performance, CSF NfL was correlated with Timed Up and Go (TUG) test (r = 0.531, p = 0.001), and gait speed (r = -0.450, p = 0.007), but not with single-leg stance. After adjusting for age, associations with volumes in MRI, functional mobility (TUG), and gait speed remained significant, whereas associations with cognitive performance attenuated below the significance level despite medium to large effect sizes.

CONCLUSION: NfL was strongly related to global gray matter and hippocampal atrophy, but not to WMH severity. NfL was also associated with motor performance. Our results suggest that NfL is independently associated with brain atrophy and functional mobility, but is not a reliable marker for cerebral small vessel disease.

PMID:36688160 | PMC:PMC9849573 | DOI:10.3389/fnagi.2022.939155

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AI-RADS: Successes and challenges of a novel artificial intelligence curriculum for radiologists across different delivery formats

Front Med Technol. 2023 Jan 4;4:1007708. doi: 10.3389/fmedt.2022.1007708. eCollection 2022.

ABSTRACT

INTRODUCTION: Artificial intelligence and data-driven predictive modeling have become increasingly common tools integrated in clinical practice, heralding a new chapter of medicine in the digital era. While these techniques are poised to affect nearly all aspects of medicine, medical education as an institution has languished behind; this has raised concerns that the current training infrastructure is not adequately preparing future physicians for this changing clinical landscape. Our institution attempted to ameliorate this by implementing a novel artificial intelligence in radiology curriculum, “AI-RADS,” in two different educational formats: a 7-month lecture series and a one-day workshop intensive.

METHODS: The curriculum was structured around foundational algorithms within artificial intelligence. As most residents have little computer science training, algorithms were initially presented as a series of simple observations around a relatable problem (e.g., fraud detection, movie recommendations, etc.). These observations were later re-framed to illustrate how a machine could apply the underlying concepts to perform clinically relevant tasks in the practice of radiology. Secondary lessons in basic computing, such as data representation/abstraction, were integrated as well. The lessons were ordered such that these algorithms were logical extensions of each other. The 7-month curriculum consisted of seven lectures paired with seven journal clubs, resulting in an AI-focused session every two weeks. The workshop consisted of six hours of content modified for the condensed format, with a final integrative activity.

RESULTS: Both formats of the AI-RADS curriculum were well received by learners, with the 7-month version and workshop garnering 9.8/10 and 4.3/5 ratings, respectively, for overall satisfaction. In both, there were increases in perceived understanding of artificial intelligence. In the 7-lecture course, 6/7 lectures achieved statistically significant (P < 0.02) differences, with the final lecture approaching significance (P = 0.07). In the one-day workshop, there was a significant increase in perceived understanding (P = 0.03).

CONCLUSION: As artificial intelligence becomes further enmeshed in clinical practice, it will become critical for physicians to have a basic understanding of how these tools work. Our AI-RADS curriculum demonstrates that it is successful in increasing learner perceived understanding in both an extended and condensed format.

PMID:36688145 | PMC:PMC9845918 | DOI:10.3389/fmedt.2022.1007708

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Comparative survey study of the use of a low cost exoscope vs. microscope for anterior cervical discectomy and fusion (ACDF)

Front Med Technol. 2023 Jan 4;4:1055189. doi: 10.3389/fmedt.2022.1055189. eCollection 2022.

ABSTRACT

BACKGROUND: Anterior cervical discectomy and fusion (ACDF) is an often performed procedure in spine neurosurgery. These are often performed using an operating microscope (OM) for better illumination and visualization. But its use is limited to the surgeon and the assistant. There is difficulty in maneuvering long surgical instruments due to the limited space available. Exoscope (EX) has been used as an alternative to microscopes and endoscopes. We used an EX in patients undergoing ACDF for cervical spondylotic myelopathy.

METHODS: A prospective comparative trial was conducted to test the safety and usability of a low-cost EX compared to a conventional surgical binocular OM in ACDF. Twenty-six patients with degenerative cervical myelopathy symptoms were operated by ACDF assisted by the EX and OM between December 2021 and June 2022. The authors collected and compared data on operative time, intraoperative hemorrhage, hospital admission, and complications in the two groups.

RESULTS: There were no statistically significant differences between the two groups in mean operative time, hospital stay, or postoperative complications. The average intraoperative blood loss was significantly more in the OM group. There were no surgical complications related to the use of the EX or OM. The comfort level, preoperative setup and intraoperative adjustment of position and angle of the EX were rated higher than the OM group. The image quality, depth perception, and illumination were rated as inferior to that of the OM. The low-cost EX was rated to be superior to that of the OM with regard to education and training purposes.

CONCLUSION: Our study showed that the low-cost EX appears to be a safe and effective alternative for OM-assisted ACDF with great comfort and ergonomics and serves as an essential tool for education and training purposes. However, some limitations of our EX included slightly inferior image quality and illumination when compared with the OM.

PMID:36688142 | PMC:PMC9846206 | DOI:10.3389/fmedt.2022.1055189

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Association between early life antibiotic exposure and development of early childhood atopic dermatitis

JAAD Int. 2022 Nov 13;10:68-74. doi: 10.1016/j.jdin.2022.11.002. eCollection 2023 Mar.

ABSTRACT

BACKGROUND: Atopic dermatitis (AD) is a chronic, inflammatory skin disease commonly onset during infancy.

OBJECTIVE: We examine the association between pre-and postnatal antibiotic exposure and the development of AD.

METHODS: A retrospective, observational study analyzed 4106 infants at the University of Florida from June 2011 to April 2017.

RESULTS: Antibiotic exposure during the first year of life was associated with a lower risk of AD. The association was strongest for exposure during the first month of life. There were no significant differences in the rates of AD in infants with or without exposure to antibiotics in months 2 through 12, when examined by month. Antibiotic exposure during week 2 of life was associated with lower risk of AD, with weeks 1, 3, and 4 demonstrating a similar trend.

LIMITATIONS: Retrospective data collection from a single center, use of electronic medical record, patient compliance with prescribed medication, and variable follow-up.

CONCLUSIONS: Early life exposures, such as antibiotics, may lead to long-term changes in immunity. Murine models of atopic dermatitis demonstrate a “critical window” for the development of immune tolerance to cutaneous microbes. Our findings suggest that there may also be a “critical window” for immune tolerance in human infants, influenced by antibiotic exposure.

PMID:36688099 | PMC:PMC9850168 | DOI:10.1016/j.jdin.2022.11.002

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Translation and psychometrics of the Persian version of the Good Nursing Care Scale in Iran

Int J Nurs Knowl. 2023 Jan 22. doi: 10.1111/2047-3095.12413. Online ahead of print.

ABSTRACT

BACKGROUND AND AIM: Identifying and evaluating the strengths and weaknesses of nursing care provided to improve the quality of nursing care is increasingly emphasized, and it requires using valid tools in this field. This study aimed to translate and determine the psychometric properties of the Persian version of the “Good Nursing Care Scale” (GNCS-P).

METHODS: The present study is a methodological study in which the psychometric dimensions of GNCS-P were studied from the perspective of 200 patients who were admitted to the hospitals of Ardabil University of Medical Sciences. After translating the original version of the scale, its validity and reliability were evaluated and data analysis was performed using statistical package for social science (version 16) and analysis of moment structures (version 24).

RESULTS: The effect score of the item in the evaluation of face validity for each item was above 2.4. The content validity ratio for the scale was 0.88, and the content validity index tool was 0.86. The correlation of total instrument scores with the standard instrument was 0.839. According to the results of factor analysis, the values of factor loading of items were between 0.62 and 0.91, which were all significant. Therefore, the seven dimensions introduced in the main tool were approved. In addition, Cronbach’s alpha results of 0.865 and correlation of 0.894 in the test-retest showed that the questionnaire has internal consistency and acceptable stability.

CONCLUSION: The Persian version of the GNCS-P has acceptable psychometric properties in the Iranian population and can be used as a valid tool in the areas of quality assessment of nursing care, education, and nursing research.

IMPLICATIONS FOR NURSING PRACTICE: The results showed the validity and reliability of the tool and its usability as a valid tool in evaluating the quality of nursing care.

PMID:36683201 | DOI:10.1111/2047-3095.12413

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Attributes underlying patient choice of treatment modality for low-grade squamous intraepithelial lesion complicated by high-risk human papillomavirus infection

Int J Hyperthermia. 2023;40(1):2168075. doi: 10.1080/02656736.2023.2168075.

ABSTRACT

OBJECTIVE: To use logistic regression to analyze the attributes underlying patients’ treatment options for low-grade squamous intraepithelial lesion (LSIL) complicated with high-risk human papillomavirus (HR-HPV) infection, and identify the best benefit group of different treatment options.

METHODS: Clinical data of 197 LSIL patients with HR-HPV infection between June 2009 and February 2022 were collected. According to the treatment options chosen by the patients, they were divided into the interferon, photodynamic therapy, follow-up observation, and focused ultrasound (FUS) treatment groups. One-way analysis of variance (ANOVA) and multivariate logistic regression analysis were used to analyze the influencing factors, including age, occupation, education level, maternity history, reason for encounter, route of consultation, annual personal and household income, screening for related risk factors, and identifying the best benefit group of different treatment options.

RESULTS: One-way ANOVA revealed a statistically significant difference in age, education level, maternity history, reason for encounter, and annual household income (p < 0.05). Multivariate logistic regression analysis was performed on these five factors, indicating that age ≤35 years, high school educational level or higher, and no childbirth history were independent risk factors influencing patients’ choices of FUS treatment. The receiver operating characteristic curve was used to determine the age threshold of 31 years.

CONCLUSION: Age, educational level, and maternity history were independent risk factors influencing patients’ choice of treatment modality for LSIL complicated with HR-HPV infection. Age ≤31 years, high school, equivalent, or higher educational level, and no childbirth yielded a higher rate of choosing FUS treatment for LSIL patients with HR-HPV infection.

PMID:36683163 | DOI:10.1080/02656736.2023.2168075

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Evaluating the discriminating power of amino acid ratios on distinguishing dark colored hair samples

J Forensic Sci. 2023 Jan 22. doi: 10.1111/1556-4029.15192. Online ahead of print.

ABSTRACT

Human hairs are one of the most commonly encountered items of trace evidence. Currently, conventional methods for hair analysis include microscopic comparison and DNA analysis (nuclear and mitochondrial). Each approach has its own drawbacks. Hair proteins are stable and offer an alternative to DNA testing, as demonstrated with proteomics for distinguishing humans. However, proteomics is complicated and requires identifying peptides to remain intact following harsh sample preparation methods. Alternatively, the actual amino acid content of a hair sample may also offer important identifying information and actually requires proteins and peptides to be broken down completely rather than remaining intact. This study evaluated the discriminating power of using hair amino acid ratios to differentiate hair samples from 10 unrelated individuals with dark colored hair. Hair proteins were digested, derivatized, and analyzed using gas chromatography-mass spectrometry. Amino acid ratios were calculated for each individual and comparisons using ANOVA and post-hoc pairwise t-test with Bonferroni correction were made with amino acid ratios for individuals. Overall, out of the 45 possible pairwise comparisons between all hair samples, 38 (84%) were differentiable. Out of the 36 possible pairwise comparisons between brown haired individuals, 32 (89%) were considered differentiable using univariate statistics. Multivariate statistics were also attempted but, overall, univariate models were sufficient for exclusionary purposes. These results indicate that amino acid ratio analysis can potentially be used as an exclusionary method using hair if DNA analysis cannot be performed, or to corroborate conclusions made following microscopic analysis.

PMID:36683150 | DOI:10.1111/1556-4029.15192

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Assessing data mining algorithms to predict the quality of groundwater resources for determining irrigation hazard

Environ Monit Assess. 2023 Jan 23;195(2):319. doi: 10.1007/s10661-022-10909-9.

ABSTRACT

This study aims to compare three popular machine learning (ML) algorithms including random forest (RF), boosting regression tree (BRT), and multinomial logistic regression (MnLR) for spatial prediction of groundwater quality classes and mapping it for salinity hazard. Three hundred eighty-six groundwater samples were collected from an agriculturally intensive area in Fars Province, Iran, and nine hydro-chemical parameters were defined and interpreted. Variance inflation factor and Pearson’s correlations were used to check collinearity between variables. Thereinafter, the performance of ML models was evaluated by statistical indices, namely, overall accuracy (OA) and Kappa index obtained from the confusion matrix. The results showed that the RF model was more accurate than other models with the slight difference. Moreover, the analysis of relative importance also indicated that sodium adsorption ratio (SAR) and pH have the most impact parameters in explaining groundwater quality classes, respectively. In this research, applied ML algorithms along with the hydro-chemical parameters affecting the quality of ground water can lead to produce spatial distribution maps with high accuracy for managing irrigation practice.

PMID:36683118 | DOI:10.1007/s10661-022-10909-9