Category: Statistics

J Clin Immunol. 2022 Jul 7. doi: 10.1007/s10875-022-01324-3. Online ahead of print.

ABSTRACT

PURPOSE: We aimed to report the clinical and immunological characteristics of variant type X91⁺ chronic granulomatous disease (CGD) in a Chinese cohort.

METHODS: The clinical manifestations and immunological phenotypes of patients with X91⁺ CGD were collected. A dihydrorhodamine (DHR) analysis was performed to evaluate neutrophil function. Gp91^phox protein expression was determined using extracellular staining with the monoclonal antibody (mAb) 7D5 and flow cytometry.

RESULTS: Patients with X91⁺ CGD accounted for 8% (7/85) of all patients with CGD. The median age of onset in the seven patients with X91⁺ CGD was 4 months. Six patients received the BCG vaccine, and 50% (3/6) had probable BCG infections. Mycobacterium tuberculosis infection was prominent. The most common sites of infection were the lung (6/7), lymph nodes (5/7), and soft tissue (3/7). Two patients experienced recurrent oral ulcers. The stimulation index (SI) of the patients with X91⁺ CGD ranged widely from 1.9 to 67.3. The difference in the SI among the three groups of patients (X91⁺ CGD, X91^– CGD, and X91⁰ CGD) was statistically significant (P = 0.0071). The three groups showed no significant differences in onset age, diagnosis age, or severe infection frequency. CYBB mutations associated with X91⁺ CGD were commonly located in the second transmembrane or intracellular regions. Three novel X91⁺ CGD-related mutations (c.1462-2 A > T, c.1243C > T, and c.925G > A) were identified.

CONCLUSIONS: Variant type X91⁺ CGD may result in varied clinical manifestations. Moreover, the laboratory findings might indicate a moderate neutrophil SI. We should deepen our understanding of variant X91⁺ CGD to prevent missed diagnoses.

PMID:35796921 | DOI:10.1007/s10875-022-01324-3

Dysphagia. 2022 Jul 7. doi: 10.1007/s00455-022-10484-8. Online ahead of print.

ABSTRACT

Oropharyngeal dysphagia (OD) is a high impact morbidity in head-and-neck cancer (HNC) patients. A wide variety of instruments are developed to screen for affective symptoms and OD. The current paper aims to systematically review and appraise the literature to obtain insight into the prevalence, strength, and causal direction of the relationship between affective symptoms and OD in HNC patients. This review was conducted in accordance with the PRISMA statement. A systematic search of the literature was performed using PubMed, PsycINFO, Cochrane, and Embase. All available publications reporting on the relationship between affective conditions and swallowing function in HNC patients were included. Conference papers, tutorials, reviews, and studies with less than 5 patients were excluded. Fifteen studies met the inclusion criteria. The level of evidence and methodological quality were assessed using the ABC-rating scale and QualSyst critical appraisal tool. Eleven studies reported a positive relationship between affective symptoms and OD. The findings of this paper highlight the importance of affective symptom screening in dysphagic HNC patients as clinically relevant affective symptoms and OD seems to be prevalent and coincident in this population. Considering the impact of affective symptoms and OD on patients’ daily life, early detection and an integrated interdisciplinary approach are recommended. However, due to the heterogeneity of study designs, outcomes, and outcome measures, the generalization of study results is limited.

PMID:35796877 | DOI:10.1007/s00455-022-10484-8

Phys Eng Sci Med. 2022 Jul 7. doi: 10.1007/s13246-022-01140-4. Online ahead of print.

ABSTRACT

The aim of this study is to classify patients suspected from COVID-19 to five stages as normal, early, progressive, peak, and absorption stages using radiomics approach based on lung computed tomography images. Lung CT scans of 683 people were evaluated. A set of statistical texture features was extracted from each CT image. The people were classified using the random forest algorithm as an ensemble method based on the decision trees outputs to five stages of COVID-19 disease. Proposed method attains the highest result with an accuracy of 93.55% (96.25% in normal, 74.39% in early, 100% in progressive, 82.19% in peak, and 96% in absorption stage) compared to the other three common classifiers. Radiomics method can be used for the classification of the stage of COVID-19 disease with good accuracy to help decide the length of time required to hospitalize patients, determine the type of treatment process required for patients in each category, and reduce the cost of care and treatment for hospitalized individuals.

PMID:35796865 | DOI:10.1007/s13246-022-01140-4

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