Tag: statistics

Eur J Hum Genet. 2023 Feb 7. doi: 10.1038/s41431-023-01307-x. Online ahead of print.

ABSTRACT

Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases have been reported to date. We aimed to further delineate the TRIP12-associated phenotype and objectify characteristic facial traits through GestaltMatcher image analysis based on deep-learning algorithms in order to establish a TRIP12 gestalt. 38 individuals between 3 and 66 years (F = 20, M = 18) – 1 previously published and 37 novel individuals – were recruited through an ERN ITHACA call for collaboration. 35 TRIP12 variants were identified, including frameshift (n = 15) and nonsense (n = 6) variants, as well as missense (n = 5) and splice (n = 3) variants, intragenic deletions (n = 4) and two multigene deletions disrupting TRIP12. Though variable in severity, global developmental delay was noted in all individuals, with language deficit most pronounced. About half showed autistic features and susceptibility to obesity seemed inherent to this disorder. A more severe expression was noted in individuals with a missense variant. Facial analysis showed a clear gestalt including deep-set eyes with narrow palpebral fissures and fullness of the upper eyelids, downturned corners of the mouth and large, often low-set ears with prominent earlobes. We report the largest cohort to date of individuals with TRIP12 variants, further delineating the associated phenotype and introducing a facial gestalt. These findings will improve future counseling and patient guidance.

PMID:36747006 | DOI:10.1038/s41431-023-01307-x

Sci Rep. 2023 Feb 6;13(1):2127. doi: 10.1038/s41598-023-28724-8.

ABSTRACT

As a specific predictor of ovarian reserve, serum anti-Müllerian hormone (AMH) has become an area of intense research interest in the field of assisted reproductive technology. We assessed the relationship between AMH levels and pregnancy outcomes in Chinese patients and investigate the influencing factors of cumulative live birth in patients with high AMH levels. A total of 1379 patients starting their IVF/ICSI cycle were divided into normal (Group A, 1.1-4.0 ng/ml, n = 639) and high (Group B, > 4.0 ng/ml, n = 740) groups by serum AMH levels. Live birth rate (LBR), cumulative live birth rate (CLBR) and cumulative clinical pregnancy rate (CCPR) were also investigated. Compared with Group A, Group B had a significantly higher CLBR (65.80% vs. 43.95%) and CCPR (76.77% vs. 57.14%), respectively. Binomial logistic regression analysis showed that age over 40 years, LH/FSH > 2.5, total Gn dose and Gn duration, and greater than 4000 ng/ml serum E2 levels on HCG day were significantly associated with CLBR in Group B. The AUC value of CLBR averaged 0.664 (ranging from 0.621 to 0.706) (p < 0.001). The patients with high AMH levels had higher CPR, higher LBR, and lower MR with no statistically significant differences, although there were significant improvements in CLBR. Advanced age (> 40 years) still impacted CLBR, even in women with good ovarian reserves. Consequently, it is still recommended that patients over 40 years old with high AMH levels actively receive IVF treatment if they seek to become pregnant. PCOS diagnoses did not influence the CLBR. In summary, this study showed that serum AMH levels could positively predict patient ovarian responses and further affect pregnancy outcomes.

PMID:36746984 | DOI:10.1038/s41598-023-28724-8

Sci Rep. 2023 Feb 6;13(1):2132. doi: 10.1038/s41598-023-28937-x.

ABSTRACT

Quantifying relationships between animal behavior and habitat use is essential to understanding animal decision-making. High-resolution location and acceleration data allows unprecedented insights into animal movement and behavior. These data types allow researchers to study the complex linkages between behavioral plasticity and habitat distribution. We used a novel Markov model in a Bayesian framework to quantify the influence of behavioral state frequencies and environmental variables on transitions among landcover types through joint use of location and tri-axial accelerometer data. Data were collected from 56 greater white-fronted geese (Anser albifrons frontalis) across seven ecologically distinct winter regions over two years in midcontinent North America. We showed that goose decision-making varied across landcover types, ecoregions, and abiotic conditions, and was influenced by behavior. We found that time spent in specific behaviors explained variation in the probability of transitioning among habitats, revealing unique behavioral responses from geese among different habitats. Combining GPS and acceleration data allowed unique study of potential influences of an ongoing large-scale range shift in the wintering distribution of a migratory bird across midcontinent North America. We anticipate that behavioral adaptations among variable landscapes is a likely mechanism explaining goose use of highly variable ecosystems during winter in ways which optimize their persistence.

PMID:36746981 | DOI:10.1038/s41598-023-28937-x

Transl Psychiatry. 2023 Feb 6;13(1):47. doi: 10.1038/s41398-023-02326-4.

ABSTRACT

Extracellular vesicles (EVs) are present in numerous peripheral bodily fluids and function in critical biological processes, including cell-to-cell communication. Most relevant to the present study, EVs contain microRNAs (miRNAs), and initial evidence from the field indicates that miRNAs detected in circulating EVs have been previously associated with mental health disorders. Here, we conducted an exploratory longitudinal and cross-sectional analysis of miRNA expression in serum EVs from adolescent participants. We analyzed data from a larger ongoing cohort study, evaluating 116 adolescent participants at two time points (wave 1 and wave 2) separated by three years. Two separate data analyses were employed: A cross-sectional analysis compared individuals diagnosed with Major Depressive Disorder (MDD), Anxiety disorders (ANX) and Attention deficit/Hyperactivity disorder (ADHD) with individuals without psychiatric diagnosis at each time point. A longitudinal analysis assessed changes in miRNA expression over time between four groups showing different diagnostic trajectories (persistent diagnosis, first incidence, remitted and typically developing/control). Total EVs were isolated, characterized by size distribution and membrane proteins, and miRNAs were isolated and sequenced. We then selected differentially expressed miRNAs for target prediction and pathway enrichment analysis. In the longitudinal analysis, we did not observe any statistically significant results. In the cross-sectional analysis: in the ADHD group, we observed an upregulation of miR-328-3p at wave 1 only; in the MDD group, we observed a downregulation of miR-4433b-5p, miR-584-5p, miR-625-3p, miR-432-5p and miR-409-3p at wave 2 only; and in the ANX group, we observed a downregulation of miR-432-5p, miR-151a-5p and miR-584-5p in ANX cases at wave 2 only. Our results identified previously observed and novel differentially expressed miRNAs and their relationship with three mental health disorders. These data are consistent with the notion that these miRNAs might regulate the expression of genes associated with these traits in genome-wide association studies. The findings support the promise of continued identification of miRNAs contained within peripheral EVs as biomarkers for mental health disorders.

PMID:36746925 | DOI:10.1038/s41398-023-02326-4

Anesth Pain Med (Seoul). 2023 Jan;18(1):75-83. doi: 10.17085/apm.22181. Epub 2022 Dec 2.

ABSTRACT

BACKGROUND: Changes in tissue oxygen saturation determined by near-infrared spectroscopy (NIRS) may help predict and determine the success of a lateral infraclavicular (LIC) block.We investigated whether evaluation of tissue oxygen saturation determined by NIRS couldbe an indicator of LIC block success.

METHODS: Forty patients scheduled for hand or forearm surgery under LIC block were studied. NIRS sensors were placed on the ventral aspect of both mid-forearms, and the contralateral hand was used as the control group. NIRS values were recorded before the block andat regular intervals during the following 30 min.

RESULTS: NIRS values were significantly higher in the successfully blocked patients whencompared to the complete failure, partial failure, and contralateral hand groups at the 10thmin. In the successfully blocked patients, NIRS values (mean ± SD [change in %]) increasedby 11.09 ± 4.86 (16.03%), 15.00 ± 4.53 (21.76%), 16.35 ± 5.14 (23.77%), 16.38 ± 4.88(23.85%), 16.67 ± 5.04 (24.29%), and 16.96 ± 5.71 (24.78%), respectively, from baselineto 5, 10, 15, 20, 25, and 30 min. ΔTs values were significantly higher in the successfullyblocked patients than in the complete failure patients and contralateral hand at the 30thmin. However, there was no statistically significant difference when comparing ΔTs values ofsuccessful block and partial failure block patients at the 30th min.

CONCLUSIONS: We conclude that measurement of tissue oxygen saturation by NIRS withinthe scope of evaluation of the lateral infraclavicular block is a rapid, effective, and applicabletechnique.

PMID:36746906 | DOI:10.17085/apm.22181

Anesth Pain Med (Seoul). 2023 Jan;18(1):1-4. doi: 10.17085/apm.23003. Epub 2023 Jan 30.

NO ABSTRACT

PMID:36746895 | DOI:10.17085/apm.23003

Geroscience. 2023 Feb 7. doi: 10.1007/s11357-023-00736-2. Online ahead of print.

ABSTRACT

India is undergoing a demographic transition, and so is the tribal population of India. The outcome of this is ageing, and ageing is associated with disability. The tribals are the most vulnerable and marginalized section, despite being significant in numbers, there has not been much exploration of disability among tribals and non-tribals. We used secondary data from the nationally representative, Longitudinal Ageing Study in India (2017-2018). Our sample size consisted of 64,417 adults ages 45 years and older. We defined the disability as having functional limitations. Regression analysis was done to examine the association between disability and caste. Further, to eliminate selection bias, we employed the propensity score matching. Also, lifestyle factors that may have a positive and negative impact on the functional health were analyzed. The results of the study found that the prevalence of functional limitation is lower among the tribal population. After controlling other socio-economic variables, we found that scheduled tribes have lower likelihood of functional limitations. Further, the propensity score matching was done to control for the observable group differences with respect to socioeconomic characteristics; the results still held true. We also found that the positive lifestyle was more prevalent among the tribal groups, which may have impacted their healthy living. The study empirically found that tribal population have lower disability in comparison to the non-tribal population in India. The tribal are more active physically and socially, which may reduce the level of functional disability.

PMID:36746893 | DOI:10.1007/s11357-023-00736-2

Intern Emerg Med. 2023 Feb 7. doi: 10.1007/s11739-023-03208-9. Online ahead of print.

ABSTRACT

To compare the efficacy/effectiveness and safety of DOACs versus VKAs in patients with a previously and newly surgically implanted BHV with or without AF. A systematic search on MEDLINE and EMBASE was performed till November 2022. Treatment effects were estimated with relative risk (RR) and 95% confidence intervals (CIs). Statistical heterogeneity was assessed with the I² statistic. Four randomized controlled trials (RCTs), 2 subgroup analysis from ARISTOTLE and ENGAGE-AF-TIMI 48 and 4 observational studies were included for a total of 5808 patients, 1893 on DOACs and 3915 on VKAs. AF prevalence was 98.28%. In the overall analysis, DOACs vs VKAs were associated with a RR for stroke/transient ischemic attack (TIA)/systemic embolism (SE) of 0.63 (95% CI 0.51-0.79; I² = 0%) and a RR of major bleeding of 0.50 (95% CI 0.39-0.63; I² = 0%) in a median follow-up of 19 months (IQR 4.5-33.4). In the 3 RCTs (DAWA, RIVER, ENAVLE), DOACs vs VKAs were associated with a RR of stroke/TIA/SE and major bleeding of 0.38 (95% CI 0.13-1.58, I² = 0%) and of 0.68 (95% CI 0.32-1.44; I² = 5%) respectively. In patients randomized during the first three months from valve surgery, DOACs vs VKAs were associated with a RR of stroke/TIA/SE and major bleeding of 0.54 (95% CI 0.14-2.08; I² = 0%) and of 0.76 (95% CI 0.05-10.72; I² = 66%). In previously implanted BHV patients with AF, DOACs showed a risk-benefit profile at least comparable to VKAs. DOACs showed a similar, even if underpowered, risk-benefit profile during the first three months after BHV implantation prevalently in patients with AF.

PMID:36746889 | DOI:10.1007/s11739-023-03208-9

Int J Comput Assist Radiol Surg. 2023 Feb 6. doi: 10.1007/s11548-023-02842-0. Online ahead of print.

ABSTRACT

PURPOSE: In telemedicine such as remote auscultation, patients themselves or non-medical people such as patient’s parents need to place the stethoscope on their body surface in appropriate positions instead of the physicians. Meanwhile, as the position depends on the individual difference of body shape, there is a demand for the efficient navigation to place the medical equipment.

METHODS: In this paper, we have proposed a non-rigid iterative closest point (ICP)-based registration method for localizing the auscultation area considering the individual difference of body surface. The proposed system provides the listening position by applying the body surface registration between the patient and reference model with the specified auscultation area. Our novelty is that selecting the utilized reference model similar to the patient body among several types of the prepared reference model increases the registration accuracy.

RESULTS: Simulation results showed that the registration error increases due to deviations of the body shape between the targeted models and reference model. Experimental results demonstrated that the proposed non-rigid ICP registration is capable of estimating the auscultation area with average error 5-19 mm when selecting the most similar reference model. The statistical analysis showed high correlation between the registration accuracy and similarity of the utilized models.

CONCLUSION: The proposed non-rigid ICP registration is a promising new method that provides accurate auscultation area takes into account the individual difference of body shape. Our hypothesis that the registration accuracy depends on the similarity of both body surfaces is validated through simulation study and human trial.

PMID:36746880 | DOI:10.1007/s11548-023-02842-0

Clin Oral Investig. 2023 Feb 6. doi: 10.1007/s00784-023-04889-4. Online ahead of print.

ABSTRACT

OBJECTIVES: The primary aim of this study was to compare the anesthetic efficacy of the intraseptal anesthesia (ISA) obtained with three doses of 4% articaine with 1:100,000 epinephrine (4%Ar + Ep) for scaling and root planing (SRP), using a computer-controlled local anesthetic delivery system (CCLADS). The secondary aims were to compare the clinical anesthetic parameters in relation to different jaw regions and examine the possible influence of sex and smoking habits on them.

MATERIALS AND METHODS: SRP under ISA obtained with different doses (0.1 ml, 0.2 ml, and 0.3 ml) of 4%Ar + Ep was performed in 360 patients. The success rate, onset, duration of soft tissue anesthesia, and the anesthetic field widths were recorded by pinprick testing.

RESULTS: The anesthesia success was high (90-95%). The onset was immediate. The duration and anesthetic field widths showed a dose-related significance, however, without a consistent sex-related or smoking-related significance. The multiple logistic regression analysis revealed a twofold higher chance of anesthesia success by increasing the dose and increased bleeding on probing-related and female sex-reduced probability of anesthesia success.

CONCLUSIONS: ISA obtained with 0.3 ml of 4%Ar + Ep delivered by a computer-controlled local anesthetic delivery system provided a high anesthetic success and the adequate clinical anesthetic parameters for SRP in all regions of both jaws.

CLINICAL RELEVANCE: ISA obtained with 4%Ar + Ep provides an effective anesthesia for SRP. The anesthetic success rate may be reduced in the presence of gingival inflammation and in females as well. The study was registered in a Clinical Trials database (NCT04392804, registration date May 9, 2020).

PMID:36746819 | DOI:10.1007/s00784-023-04889-4