Nevin Manimala

Brief Bioinform. 2022 Feb 22:bbac039. doi: 10.1093/bib/bbac039. Online ahead of print.

ABSTRACT

Polygenic scores (PGS) are important tools for carrying out genetic prediction of common diseases and disease related complex traits, facilitating the development of precision medicine. Unfortunately, despite the critical importance of PGS and the vast number of PGS methods recently developed, few comprehensive comparison studies have been performed to evaluate the effectiveness of PGS methods. To fill this critical knowledge gap, we performed a comprehensive comparison study on 12 different PGS methods through internal evaluations on 25 quantitative and 25 binary traits within the UK Biobank with sample sizes ranging from 147 408 to 336 573, and through external evaluations via 25 cross-study and 112 cross-ancestry analyses on summary statistics from multiple genome-wide association studies with sample sizes ranging from 1415 to 329 345. We evaluate the prediction accuracy, computational scalability, as well as robustness and transferability of different PGS methods across datasets and/or genetic ancestries, providing important guidelines for practitioners in choosing PGS methods. Besides method comparison, we present a simple aggregation strategy that combines multiple PGS from different methods to take advantage of their distinct benefits to achieve stable and superior prediction performance. To facilitate future applications of PGS, we also develop a PGS webserver (http://www.pgs-server.com/) that allows users to upload summary statistics and choose different PGS methods to fit the data directly. We hope that our results, method and webserver will facilitate the routine application of PGS across different research areas.

PMID:35193147 | DOI:10.1093/bib/bbac039

Int J Sports Physiol Perform. 2022 Feb 21:1-7. doi: 10.1123/ijspp.2021-0222. Online ahead of print.

ABSTRACT

PURPOSE: To assess the concurrent validity of a continuous blood-glucose-monitoring system (CGM) postbreakfast, preexercise, exercise, and postexercise, while assessing the impact of 2 different breakfasts on the observed level of validity.

METHODS: Eight nondiabetic recreational athletes (age = 30.8 [9.5] y; height = 173.6 [6.6] cm; body mass = 70.3 [8.1] kg) took part in the study. Blood glucose concentration was monitored every 10 minutes using both a CGM (FreeStyle Libre, Abbott, France) and finger-prick blood glucose measurements (FreeStyle Optimum) over 4 different periods (postbreakfast, preexercise, exercise, and postexercise). Two different breakfasts (carbohydrates [CHO] and protein oriented) over 2 days (2 × 2 d in total) were used. Statistical analyses included the Bland-Altman method, standardized mean bias (expressed in standardized units), median absolute relative difference, and the Clarke error grid analysis.

RESULTS: Overall, mean bias was trivial to small at postbreakfast (effect size ± 90% confidence limits: -0.12 ± 0.08), preexercise (-0.08 ± 0.08), and postexercise (0.25 ± 0.14), while moderate during exercise (0.66 ± 0.09). A higher median absolute relative difference was observed during exercise (13.6% vs 7%-9.5% for the other conditions). While there was no effect of the breakfast type on the median absolute relative difference results, error grid analysis revealed a higher value in zone D (ie, clinically unsafe zone) during exercise for CHO (10.5%) compared with protein (1.6%).

CONCLUSION: The CGM device examined in this study can only be validly used at rest, after both a CHO and protein-rich breakfast. Using CGM to monitor blood glucose concentration during exercise is not recommended. Moreover, the accuracy decreased when CHO were consumed before exercise.

PMID:35193110 | DOI:10.1123/ijspp.2021-0222

Food Chem. 2022 Feb 7;383:132364. doi: 10.1016/j.foodchem.2022.132364. Online ahead of print.

ABSTRACT

Food product nutritional and sensory characteristics are often deeply linked to its territory of origin; therefore, its authentication by means of elemental composition becomes crucial for traceability and fighting food fraud. This study aims to establish a fast and reproducible procedure for origin and quality assessment of Sicilian tomato fruits, including PGI “Pomodoro di Pachino”, by using the X-ray fluorescence (XRF) technique. Measurements were performed on different parts of PGI Pachino tomatoes belonging to the same production lot. Principal Component and Cluster Analyses show that the samples cluster accordingly with the production lot, disentangling the different parts of the fruit. This procedure, which uses XRF yield elemental pattern and statistical analysis, establishes a solid basis for characterizing elemental profiles by a fast XRF in-situ campaign, supporting the traceability system. The reliability of XRF results was confirmed by comparing elemental concentrations with ICP-MS measurements, performed for comparison, and tomato literature values.

PMID:35193091 | DOI:10.1016/j.foodchem.2022.132364

J Chromatogr A. 2022 Feb 8;1667:462886. doi: 10.1016/j.chroma.2022.462886. Online ahead of print.

ABSTRACT

Human placental JEG-3 cells conserve a high P450 aromatase activity and are therefore suitable to evaluate how contaminants may interfere with the routes involved in estrogen synthesis during pregnancy. This has been traditionally assessed by measuring aromatase activity through the amount of tritiated water (³H₂O) formed during the aromatization of 1β-³H-androst-4-ene-3,17-dione (³H-AD). This work presents a greener and safer analytical approach for this purpose, which consists of the determination of the trace amounts of the steroids (estradiol, estrone, testosterone, and androstenedione) present in the culture medium. Turbulent flow chromatography coupled to liquid chromatography-tandem mass spectrometry (TFC-HPLC-MS/MS) delivered the high selectivity and sensitivity (limits of detection between 2 and 5 pg/mL) required for these measurements. Moreover, its automation allows high-throughput of samples with minimum sample handling and achieves high precision in the analysis (relative standard deviation values <6%). As a proof of concept, the method was applied to evaluate the effect of monohaloacetic acid exposure on the steroid profile of JEG-3 cells. Iodoacetic acid showed an estrogenic effect (statistically significant increase of estradiol levels compared to unexposed cells) at the highest concentration level tested (0.5 µM) that deserves further evaluation.

PMID:35193068 | DOI:10.1016/j.chroma.2022.462886

J Clin Anesth. 2022 Feb 19;78:110682. doi: 10.1016/j.jclinane.2022.110682. Online ahead of print.

ABSTRACT

IMPORTANCE: Mild cognitive impairment (MCI) is a high-risk precursor to dementia, post-operative delirium, and prolonged hospitalization. There is a need for preoperative rapid cognitive screening tools.

STUDY OBJECTIVE: To evaluate the predictive parameters of rapid MCI screening tools in different clinical settings for preoperative application.

DESIGN: Systematic review and meta-analyses searching Medline, and other databases from inception to May 26, 2021. The Preferred Reporting Items for Systematic Review and Meta-analyses (PRISMA) guidelines were followed for data curation and quality assessment. Title and abstract screening were conducted independently via Rayyan. Data was curated through a random-effects model and statistical analysis used R-software.

SETTING: Community, memory clinic, emergency, long-term care, and in-patient settings. There were no studies in the preoperative setting.

PATIENTS: Twenty-three studies with 9973 patients (≥ 60 years old) undergoing rapid MCI screening.

INTERVENTION: Rapid (≤ 5 min) MCI screening tools.

MEASUREMENTS: Pooled predictive parameters (sensitivity, specificity) of screening tests.

MAIN RESULTS: Eighteen screening tools, compared to neuropsychological tests, were identified. The overall prevalence of MCI among the Rapid Cognitive Screen (RCS), Six-item Screener (SIS), Mini-Cog, and Clock Drawing Test (CDT) studies were 24.6%, 28.3%, 40.9%, and 20.7%, respectively. RCS has 82% sensitivity and 79% specificity in detecting MCI. SIS has 61% sensitivity and 89% specificity. Mini-Cog has 52% sensitivity and 80% specificity. CDT has 56% sensitivity and 59% specificity. Seven other index tools had high sensitivities of 97%-82% and specificities of 90%-73% but were studied only once.

CONCLUSION: No rapid screening tools had been validated in the surgical population. In other populations, RCS may be a promising screening tool for MCI with stronger sensitivity and specificity than Mini-Cog, SIS, and CDT. CDT alone is ineffective for MCI detection. Further validation in the preoperative setting is required to determine the efficacy of these screening tools.

PMID:35193049 | DOI:10.1016/j.jclinane.2022.110682

Spectrochim Acta A Mol Biomol Spectrosc. 2022 Feb 15;273:121036. doi: 10.1016/j.saa.2022.121036. Online ahead of print.

ABSTRACT

HIAM technique allows the extraction of the original constant signal of each single component out of interference signals of a mixture and further transformed into basic spectrum (D⁰). It includes the methods: ratio subtraction coupled with unified constant subtraction (RS-UCS), constant center (CC) and constant extraction (CE). The technique was introduced for the analysis of two pharmaceutical formulations used to treat cardiovascular diseases. The formulations are binary combinations of Amlodipine (AML) with either Atorvastatin (ATR) or Candesartan (CND) which shows interefernce absorbance signals. The technique was valid over the linearity range of (5.0-35.0 µg/ml) for AML, ATR and CND with recovery percentage 100.40 ± 1.88 , 100.00 ± 0.86 and 99.83 ± 1.07, respectively . The extracted signals were tested for its purity by spectral contrast angle (cos θ) to illustrate the efficency of the HIAM technique where cos θ values ranges from (0.9902 to 0.9986). The presented technique was fully validated regarding ICH guidelines and were statistically compared using one-way ANOVA at 95% confidence.

PMID:35193003 | DOI:10.1016/j.saa.2022.121036

World Neurosurg. 2022 Feb 19:S1878-8750(22)00213-3. doi: 10.1016/j.wneu.2022.02.066. Online ahead of print.

ABSTRACT

INTRODUCTION: The emergence of C8 radiculopathy is a known complication following cervicothoracic osteotomies. However, the clinical profile of C8 radiculopathy is not well understood.

OBJECTIVE: To investigate the rate of C8 radiculopathy following cervicothoracic osteotomies and to form a clinical profile describing the characteristics through a systematic review of the literature to date.

METHODS: An electronic database search for full-text English articles was conducted following PRISMA guidelines. The search yielded results on indications for cervicothoracic osteotomies, surgical approaches, mean follow-up time, and significant complications, including C8 radiculopathy.

RESULTS: Our literature search resulted in 2,135 articles, of which 12 studies qualified to be included in the analysis. From the 12 articles, 451 patients across various osteotomy approaches were included. The mean age of subjects was 51.0 years (ranging from 11.4 to 63.2 years), and the majority of patients were males (66%, n = 298). Ankylosing spondylitis was the most frequent indication for surgery (44.8%, n = 202). The number of patients with post-operative C8 radiculopathy was found to be decreasing over time (1997-2020) by showing statistical significance (r=-0.65; p=0.021) CONCLUSION: There were 53 patients from the 451 total patient population with C8 radiculopathy (11.8% of the total patient population). Moreover, the rate of C8 radiculopathy decreased over time in a statistically significant manner. An understanding of the factors associated with the incidence of C8 radiculopathy is essential for the future improvement of patient outcomes.

PMID:35192973 | DOI:10.1016/j.wneu.2022.02.066

J Stomatol Oral Maxillofac Surg. 2022 Feb 19:S2468-7855(22)00039-8. doi: 10.1016/j.jormas.2022.02.011. Online ahead of print.

ABSTRACT

The aim of this study was to examine whether ultrasonography and three-dimensional radiological procedures produce significantly different measurement results with respect to fracture dislocation. This was a retrospective study of patients who were admitted to the department for oral and maxillofacial surgery of the Medical Highschool Hannover with facial skull fracture and underwent high-resolution computed tomography and ultrasonography imaging during a period from 1 January 2019 to 31 August 2019. A 10 mHz transducer was used for fracture imaging, and the largest dislocation of each fracture was measured. A paired t-test for dependent samples was used for statistical evaluation of the measured differences, and the p-value was set at 0.05. A total of 16 patients with 29 fractures were included. The fractures were characterized as follows: zygomatic arch (n=7), lateroorbital region (n=4), maxilla/zygomatic bone (n=15), mandible (n=2), and frontal sinus (n=1). Regardless of the fracture location, we found no statistical difference in fracture measurements between the ultrasonography and the computed tomography (p=0.17 (fractures of the zygomatic arch) to p=0.85 (all fractures)). The study findings suggest that ultrasonography not only allows basic detection but also a quantification of the dislocation in facial skull fractures. The ultrasonography results are not significantly different from those of the computed tomography. In everyday clinical practice, ultrasonography of facial fractures can be considered an adequate imaging procedure. If used correctly, additional radiation exposure to the patient can be avoided, thus representing a diagnostic alternative to computed tomography.

PMID:35192967 | DOI:10.1016/j.jormas.2022.02.011

J Gynecol Obstet Hum Reprod. 2022 Feb 19:102336. doi: 10.1016/j.jogoh.2022.102336. Online ahead of print.

ABSTRACT

OBJECTIVE: – To evaluate whether ultrasound assessment of fetal head position and station though head perineum distance (HPD), is more predictive of a difficult operative vaginal delivery (OVD) than digital examination.

METHODS: – Retrospective, monocentric case control study including all singleton OVD at ≥34 weeks gestation. The principal criteria for a difficult OVD were based on a composite criterion of: an OVD considered “difficult” by the birth attendant, and/or two vacuum device detachments if a vacuum was used, and/or change of instrument, and/or a cesarean delivery for OVD failure.

RESULTS: – Two hundred eighty-six OVDs were included, among which 65 (22.7%) were difficult. The area under the curve (AUC) for predicting difficult OVD according to fetal position from digital examination or ultrasound was 0.62 (95% CI: 0.54-0.70) and 0.66 (95% CI: 0.58-0.73), respectively. Regarding fetal station, the AUCs of HPD without and with pressure were 0.59 (95% CI: 0.51-0.66) and 0.60 (95% CI: 0.51-0.68), respectively. Factors associated with difficult OVD were posterior and transverse positions (OR: 2.931, 95% CI: 1.640-5.239; p = 0.0003), HPD without pressure (threshold of 37 mm, OR: 2.327, 95% CI: 1.247-4.245; p = 0.0080), and HPD with pressure (threshold of 17 mm, OR: 2.594, 95% CI: 1.230-5.429; p = 0.0114).

CONCLUSION: – Ultrasound assessment of fetal head position and station before OVD moderately predicts difficult OVD. Ultrasound assessment of posterior or transverse positions and HPD with a threshold of 37 mm (without compression of soft tissue) and 17 mm (with compression) were factors associated with difficult OVD.

PMID:35192950 | DOI:10.1016/j.jogoh.2022.102336

Photodiagnosis Photodyn Ther. 2022 Feb 19:102764. doi: 10.1016/j.pdpdt.2022.102764. Online ahead of print.

ABSTRACT

Oral potentially malignant disorders (OPMD) represent a group of lesions with increased risk for malignant transformation. The management of such injuries is based on surgical treatment or detailed follow-up throughout the patient’s lifetime. This systematic review and meta-analysis investigated and critically evaluated the use of autofluorescence and fluorescent probes as potential techniques for the early detection of OPMD. A comprehensive search was performed on Pubmed, Scopus, Web of Science and LIVIVO databases. The gray literature was also consulted and included Google Scholar, Proquest and Open Grey databases. 2715 articles were retrieved, and after the different stages of critical evaluation, were reduced to 25 articles that fully met the inclusion criteria. VELscope® was the most used equipment for autofluorescence, while aminolevulinic acid (5-ALA) was the main representative of the probes. The meta-analysis performed included 10 articles that used VELscope® as a method to detect oral disorders. A 95% confidence interval (CI) with a p value significance <0.05 was considered as a criterion for the statistical analysis. The combined sensitivity was 74% (CI95 60-76%, p = 0.0001) and the specificity was 57% (CI95 52-60%, p = 0.0000). The inclusion of these adjunct methods in clinical practice is very promising, since they are able to help both the clinician and the specialist in the early detection of potentially malignant oral disorders, favoring a better prognosis. However, it is still necessary to carry out further studies, with the aim of establishing a protocol for use and qualification of results.

PMID:35192945 | DOI:10.1016/j.pdpdt.2022.102764