Tag: pubmed

Curr Cardiol Rep. 2022 Jul 7. doi: 10.1007/s11886-022-01734-0. Online ahead of print.

ABSTRACT

PURPOSE OF REVIEW: A polygenic risk score (PRS) is a measure of genetic liability to a disease and is typically normally distributed in a population. Individuals in the upper tail of this distribution often have relative risk equivalent to that of monogenic form of the disease. The majority of currently available PRSs for coronary heart disease (CHD) have been generated from cohorts of European ancestry (EUR) and vary in their applicability to other ancestry groups. In this report, we review the performance of PRSs for CHD across different ancestries and efforts to reduce variability in performance including novel population and statistical genetics approaches.

RECENT FINDINGS: PRSs for CHD perform robustly in EUR populations but lag in performance in non-EUR groups, particularly individuals of African ancestry. Several large consortia have been established to enable genomic studies in diverse ancestry groups and develop methods to improve PRS performance in multi-ancestry contexts as well as admixed individuals. These include fine-mapping to ascertain causal variants, trans ancestry meta-analyses, and ancestry deconvolution in admixed individuals. PRSs are being used in the clinical setting but enthusiasm has been tempered by the variable performance in non-EUR ancestry groups. Increasing diversity in genomic association studies and continued innovation in methodological approaches are needed to improve PRS performance in non-EUR individuals for equitable implementation of genomic medicine.

PMID:35796859 | DOI:10.1007/s11886-022-01734-0

Vet Res Commun. 2022 Jul 7. doi: 10.1007/s11259-022-09968-7. Online ahead of print.

ABSTRACT

Red-legged partridge (Alectoris rufa) populations are currently declining in the Iberian Peninsula, mainly due to habitat degradation and hunting pressure. In addition, the release of farm-reared partridges may introduce pathogens, including parasites, to wild populations. The presence of digestive parasites in red-legged partridges hunted in fifteen Spanish provinces was studied. Fecal samples and gastrointestinal tracts were collected, analyzed, and the morphometric identification of parasites was carried out. Eimeria spp. oocysts, nematode, cestode and trematode eggs were observed in fecal samples. Adult nematodes (Ascaridia galli, Ascaridia compar, Heterakis gallinarum, Heterakis tenuicauda, Trichostrongylus tenuis, Subulura spp., Cyrnea spp. and Aonchotheca caudinflata), tapeworms (Raillietina tetragona, R. echinobothrida, R. micracantha, Rhabdometra nigropunctata, and Choanotaenia infundibulum), and trematodes (Brachylaima spp., Brachylecithum spp., Dicrocoelium spp.) were identified in the gastrointestinal tracts. Significant statistical differences were found among climatic regions in the prevalence and intensity of Eimeria spp. infection, median intensity and the prevalence of indirect life cycle helminths, with Southern areas always showing higher infection values. The study provides information of the health status of red-legged partridges in Spain, highlighting the risk associated with the release of farm-reared partridges for restocking purposes. This should be taken into account to improve management strategies for the long-term conservation of the species.

PMID:35796856 | DOI:10.1007/s11259-022-09968-7

J Clin Neurol. 2022 Jul;18(4):447-452. doi: 10.3988/jcn.2022.18.4.447.

ABSTRACT

BACKGROUND AND PURPOSE: Stereopsis refers to the perception of depth and awareness of the distance of an object from the observer that results from the brain receiving visual stimuli from both eyes in combination. Patients with idiopathic Parkinson’s disease (PD patients) typically experience problems with vision, eyeball movements, and visual perception due to degeneration of the cells that generate dopamine in the brain. We therefore hypothesized that stereopsis is affected more by visual cortical dysfunction in idiopathic PD than by retina and subcortical structural dysfunction.

METHODS: We analyzed stereopsis in 12 PD patients and 7 healthy controls using a three-dimensional (3D) television (TV). Before allowing patients to watch TV, we examined their visual acuity and strabismus using the Titmus Stereo Fly Test, and evaluated their cognitive function using cognitive tests. The patients watched 3D and two-dimensional (2D) versions of a movie with an approximate duration of 17 minutes, and then completed a questionnaire about stereopsis. All subjects underwent brain F-18 fluorodeoxyglucose (FDG) positron-emission tomography after watching the 3D version of the movie. One week later, subjects watched the 2D version of the same movie under the same conditions. Each scan was analyzed using statistical parametric mapping (version 8) software.

RESULTS: The visual cortex was activated less in the PD patients than in the healthy controls when watching the 2D or 3D movie. However, there was no significant difference between watching 2D and 3D movies in the PD patients or healthy controls.

CONCLUSIONS: The lower activation of the primary visual cortex in PD patients suggests the presence of dysfunction of the visual cortex. In addition, there was less activation of the visual association cortex in PD patients when watching a 3D movie than in controls under the same conditions. This might be one reason why PD patients do not recognize real and dynamic stereopsis. These findings have clinical significance since they suggest that safety needs to be considered when making devices or programs using 3D or virtual reality for use by patients with various cerebral degenerative diseases.

PMID:35796270 | DOI:10.3988/jcn.2022.18.4.447

Dermatol Ther. 2022 Jul 7:e15696. doi: 10.1111/dth.15696. Online ahead of print.

ABSTRACT

Alopecia areata (AA) is an autoimmune disease that results in non-scarring hair loss. Topical minoxidil 5% gel and methotrexate 1% gel are important modalities used in the treatment of many dermatological diseases. We aimed to evaluate the efficacy of methotrexate 1% gel versus topical minoxidil 5% gel in the treatment of localised AA both clinically and dermoscopically. Fifty patients were randomly divided into two groups of 25 each; the first was treated with topical minoxidil 5% gel, and the second was with methotrexate 1% gel. Dermoscopic and photographic pictures were used to follow up at baseline, 3, 6, and 12 weeks. By comparing the two therapies, we noticed that minoxidil has a statistically significant higher frequency of broken hair and black dots after 6 weeks than methotrexate. After 12 weeks, dermoscopy revealed that the minoxidil group had a lower frequency of vellus hair than the methotrexate group. Clinically after 6 weeks, minoxidil showed significantly more excellent improvement than methotrexate (16% versus 0%), and after 12 weeks, minoxidil and methotrexate showed excellent improvement (52% and 36%), respectively. There was no significant difference in side effects (erythema and itching) between the methotrexate and minoxidil groups. Both topical methotrexate 1% gel and topical minoxidil 5% gel had high efficacy in treating localised alopecia areata, with no significant differences between them as evaluated by clinical and dermoscopic examination. This article is protected by copyright. All rights reserved.

PMID:35796224 | DOI:10.1111/dth.15696

J Nurses Prof Dev. 2022 Jul 6. doi: 10.1097/NND.0000000000000922. Online ahead of print.

ABSTRACT

Nursing professional development practitioners at an academic medical center conducted a quality improvement project to address the educational needs of procedural unit nurses during the COVID-19 pandemic. Procedural nurses completed a 1-day critical care nursing skills education and pre- and postsurveys. Survey results indicated an improved nurses’ skills confidence in caring for COVID-19 patients, which was statistically significant, t(34.9) = 4.8, p < .001.

PMID:35796217 | DOI:10.1097/NND.0000000000000922

Eur J Heart Fail. 2022 Jul 7. doi: 10.1002/ejhf.2607. Online ahead of print.

ABSTRACT

BACKGROUND: Biomarker-driven prognostic models incorporating NT-proBNP and hs-cTnT in HFpEF are lacking.

AIMS: To generate a biomarker-driven prognostic tool for patients with chronic HFpEF enrolled in EMPEROR-Preserved.

METHODS: Multivariable Cox regression models were created for (i) the primary composite outcome of HF hospitalization or cardiovascular death (ii) all-cause death (iii) cardiovascular death and (iv) HF hospitalization. PARAGON-HF was used as a validation cohort.

RESULTS: NT-proBNP and hs-cTnT were the dominant predictors of the primary outcome, and in addition, a shorter time since last hospitalization, NYHA class III or IV, history of COPD, insulin-treated diabetes, low hemoglobin, and a longer time since HF diagnosis were key predictors (8 variables, all P<0.001). The consequent primary outcome risk score discriminated well (c-statistic=0.75) with patients in the top 10^th of risk having an event rate >22x higher than those in the bottom 10^th . A model for HF hospitalization alone had even better discrimination (c=0.79). Empagliflozin reduced the risk of cardiovascular death or hospitalization for heart failure in patients across all risk levels. NT-proBNP and hs-cTnT were also the dominant predictors of all-cause and cardiovascular mortality followed by history of COPD, low albumin, older age, LVEF ≥50%, NYHA class III or IV and insulin-treated diabetes (8 variables, all P<0.001). The mortality risk model had similar discrimination for all-cause and cardiovascular mortality (c-statistic=0.72 for both). External validation provided c-statistics of 0.71, 0.71, 0.72, and 0.72 for the primary outcome, HF hospitalization alone, all-cause death, and cardiovascular death, respectively.

CONCLUSIONS: The combination of NT-proBNP and hs-cTnT along with a few readily available clinical variables provides effective risk discrimination both for morbidity and mortality in patients with HFpEF. A predictive toolkit facilitates the ready implementation of these risk models in routine clinical practice.

PMID:35796209 | DOI:10.1002/ejhf.2607

Hum Brain Mapp. 2022 Jul 7. doi: 10.1002/hbm.26003. Online ahead of print.

ABSTRACT

Mild traumatic brain (mTBI) injury is often associated with long-term cognitive and behavioral complications, including an increased risk of memory impairment. Current research challenges include a lack of cross-modal convergence regarding the underlying neural-behavioral mechanisms of mTBI, which hinders therapeutics and outcome management for this frequently under-treated and vulnerable population. We used multi-modality imaging methods including magnetoencephalography (MEG) and diffusion tensor imaging (DTI) to investigate brain-behavior impairment in mTBI related to working memory. A total of 41 participants were recruited, including 23 patients with a first-time mTBI imaged within 3 months of injury (all male, age = 29.9, SD = 6.9), and 18 control participants (all male, age = 27.3, SD = 5.3). Whole-brain statistics revealed spatially concomitant functional-structural disruptions in brain-behavior interactions in working memory in the mTBI group compared with the control group. These disruptions are located in the hippocampal-prefrontal region and, additionally, in the amygdala (measured by MEG neural activation and DTI measures of fractional anisotropy in relation to working memory performance; p < .05, two-way ANCOVA, nonparametric permutations, corrected). Impaired brain-behavior connections found in the hippocampal-prefrontal and amygdala circuits indicate brain dysregulation of memory, which may leave mTBI patients vulnerable to increased environmental demands exerting memory resources, leading to related cognitive and emotional psychopathologies. The findings yield clinical implications and highlight a need for early rehabilitation after mTBI, including attention- and sensory-based behavioral exercises.

PMID:35796166 | DOI:10.1002/hbm.26003

J Eur Acad Dermatol Venereol. 2022 Jul 7. doi: 10.1111/jdv.18413. Online ahead of print.

ABSTRACT

BACKGROUND: Analyses of the hereditary propensity to dermatophytosis have revealed several proven genetic relationships. They include CARD9 deficiency, HLA-DR4 and HLA-DR8 type, and genes encoding interleukin-22, defensin 2 and 4, and genetic defects in dectin-1, which increased the prevalence of dermatophytosis in families and were involved in the inheritance of susceptibility in their members.

METHODS: To further investigate the genetic basis of dermatophytosis, we performed a genome wide association study (GWAS) of the UK Biobank cohort. To identify cases of dermatophytosis, we used ICD10 code B35, which covers Tinea barbae, Tinea capitis, Tinea unguium, Tinea manuum, Tinea pedis, Tinea corporis, Tinea imbricata, Tinea cruris, other dermatophytoses, and dermatophytosis, unspecified. Data processing was performed on Minerva, a Linux mainframe with Centos 7.6, at the Icahn School of Medicine at Mount Sinai. We used PLINK, a whole-genome association analysis toolset, to analyze the UKB chromosome files and the UK Biobank Data Parser (ukbb parser), a python-based package that allows easy interfacing with the large UK Biobank dataset. We used LocusZoom for the Manhattan and q-q plots. Other statistical analyses were done with R and SPSS 25.

RESULTS: Genome wide association study (GWAS) and meta-analysis association statistics highlighted one susceptibility locus, Tubulointerstitial Nephritis Antigen (TINAG), with genome wide significance for dermatophytosis. The top SNP was rs16885197, a missense variant within TINAG, position chr6:54308557, alleles A>G, minor allele frequency (MAF) 0.014. Multivariate logistic regression indicated that the minor G allele increased odds ratio of dermatophytosis by 7.8. Carrying two G alleles raised dermatophytosis odds ratio by a factor of 14.

CONCLUSION: More research into genetic and other predisposing factors for dermatophytosis is critical because of the implications for prophylaxis and therapy. It might be possible to prevent infection and recurrence by identifying people who are vulnerable to chronic dermatophytosis. Identifying high-risk families would enable their members to be educated about the dangers of fungal diseases. New therapeutic techniques to target altered hormonal and immune response pathways might be created. TINAG is a prospective target that should be investigated, based on the findings of this article.

PMID:35796184 | DOI:10.1111/jdv.18413

J Eur Acad Dermatol Venereol. 2022 Jul 7. doi: 10.1111/jdv.18414. Online ahead of print.

ABSTRACT

BACKGROUND: Bullous pemphigoid (BP), the by far most frequent autoimmune blistering skin disease (AIBD), is immunopathologically characterized by autoantibodies against the two hemidesmosomal proteins BP180 (collagen type XVII) and BP230 (BPAG1 or dystonin). Several comorbidities and potentially disease-inducing medication have been described in BP, yet, a systematic analysis of these clinically relevant findings and autoantibody reactivities has not been performed.

OBJECTIVE: To determine associations of autoantibody reactivities with comorbidities and concomitant medication.

METHODS: In this prospective multicenter study, 499 patients diagnosed with BP in sixteen European referral centers were included. The relation between anti-BP180 NC16A and anti-BP230 IgG ELISA values at the time of diagnosis as well as comorbidities and concomitant medication collected by a standardized form were analyzed.

RESULTS: An association between higher serum anti-BP180 reactivity and neuropsychiatric but not atopic and metabolic disorders was observed as well as with the use of insulin or antipsychotics but not with dipeptidyl peptidase-4 (DPP4) inhibitors, inhibitors of platelet aggregation and L-thyroxine. The use of DPP4 inhibitors was associated with less anti-BP180 and anti-BP230 reactivity compared to BP patients without these drugs. This finding was even more pronounced when compared with diabetic BP patients without DPP4 inhibitors. Associations between anti-BP180 and anti-BP230 reactivities were also found in patients using insulin and antipsychotics, respectively, compared with patients without this medication, but not for the use of inhibitors of platelet aggregation, and L-thyroxine.

CONCLUSION: Taken together, these data imply a relation between autoantibody reactivities at the time of diagnosis and both neuropsychiatric comorbidities as well as distinct concomitant medication suggesting a link between the pathological immune mechanisms and clinical conditions that precede the clinically overt AIBD.

PMID:35796163 | DOI:10.1111/jdv.18414

JAMA Netw Open. 2022 Jul 1;5(7):e2220677. doi: 10.1001/jamanetworkopen.2022.20677.

ABSTRACT

IMPORTANCE: Health care workers face serious mental health challenges as a result of ongoing work stress. The COVID-19 pandemic exacerbated that stress, resulting in high rates of anxiety, depression, and burnout. To date, few evidence-based programs targeting mental health outcomes in health care workers have been described.

OBJECTIVE: To assess the feasibility, acceptability, and preliminary outcomes of a skills-based coaching program designed to reduce stress and build resilience.

DESIGN, SETTING, AND PARTICIPANTS: A pilot cohort study was conducted between September 2020 and April 2021 using preprogram and postprogram assessments and a mixed-methods analysis. Duration of follow-up was 7 weeks. The coaching program was delivered via video conferencing. Participants were health care workers and staff from a large urban health system.

INTERVENTION: The Promoting Resilience in Stress Management (PRISM) program, a manualized, skills-based coaching program originally developed for adolescents and young adults with serious/chronic illness, was adapted to support health care workers and staff (“PRISM at Work”). It included 6 weekly 1-hour group sessions.

MAIN OUTCOMES AND MEASURES: Feasibility was defined a priori as 70% completion rates. Acceptability was defined quantitatively (satisfaction scores) and qualitatively (open-ended questions regarding experience with program). Preliminary outcomes were assessed with preprogram and post program assessments of self-reported resilience, stress, anxiety, and burnout using validated instruments. Descriptive statistics summarized demographic variables and feasibility and acceptability. Linear mixed effects regression models examined preliminary outcomes, controlling for relevant covariates.

RESULTS: A total of 153 participants (median [SD] age, 40.6 [10.1] years; 142 [92%] were female; 128 [84%] identified as having White race; 81 [53%] were in patient-facing roles) enrolled. Of the 132 health care workers who provided follow-up surveys, 120 (91%) had completed the program, and 116 (88%) reported being satisfied. Answers to open-ended questions suggested that participants wanted more PRISM either with longer or additional sessions. Participant-reported resilience (β = 1.74; 95% CI, 1.00-2.48), stress (β = -2.40; 95% CI, -3.28 to -1.51), anxiety (β = -2.04; 95% CI, -2.74 to -1.34), and burnout-exhaustion (β = -0.37; 95% CI, -0.56 to -0.18) improved after the program.

CONCLUSIONS AND RELEVANCE: Results of this study suggest that PRISM at Work may have utility for health care workers and staff in that the program was found to be feasible, acceptable, and associated with improved outcomes.

PMID:35796151 | DOI:10.1001/jamanetworkopen.2022.20677