Whiteali1230
We reported another case with a novel homozygous variant of WDR45B and showed the heterogeneity of clinical features.
We reported another case with a novel homozygous variant of WDR45B and showed the heterogeneity of clinical features.
Cognitive frailty can increase the risk of adverse health outcomes in older adults. Estimates of the prevalence of cognitive frailty among older adults with diabetes varied widely in literature. This study aimed to conduct a systematic review and meta-analysis to assess the pooled prevalence of cognitive frailty and risk factors in community-dwelling older adults with diabetes, providing evidence for healthcare professionals to better understand the status of cognitive frailty and help develop effective interventions.
Databases of PubMed, Web of Science, Cochrane Library, Embase, Cumulative Index of Nursing and Allied Health, Proquest, China National Knowledge Infrastructure and China Biology Medicine were searched from inception to February 10th, 2022. The reviewers independently selected studies, extracted data and assessed the quality of studies. Pooled prevalence of cognitive frailty and risk factors were estimated. Subgroup analysis, meta-regression analysis, sensitivity analysis and publication bias were also conducted.
A total of 15 studies with 6391 participants were included in this review. The pooled prevalence of cognitive frailty was 11% (95%CI=7.9-14%) in community-dwelling older adults with diabetes. Pooled estimates showed that increasing age, higher level of HbA1c, shorter night sleep duration and depression were risk factors, and regular exercise was the protective factor of cognitive frailty in community-dwelling older adults with diabetes.
Cognitive frailty was common in community-dwelling older adults with diabetes. Routine screening of cognitive frailty and effective interventions should be implemented for this population in community settings.
PROSPERO ID CRD42021276973.
PROSPERO ID CRD42021276973.
Stroke patients have problems with voluntary movement and trunk control. Moreover, the respiratory function in stroke patients is affected by neurological impairment, which increases the incidence of respiratory complications.
To determine the correlation between trunk rotation range of motion (TRROM) and trunk lateral flexion range of motion (TLFROM), peak cough flow (PCF), and chest expansion in stroke patients.
This was an observational study involving 21 patients with a clinical diagnosis of stroke from October 2021 to January 2022. TRROM and TLFROM were assessed using smartphone applications (Compass and Clinometer), respectively, PCF was assessed using a peak flow meter, and chest expansion was assessed using a tape measure. Pearson's correlation was used to analyze the relationships between the variables.
Statistically significant correlations were found between TRROM and TLFROM (r=0.91, p<0.01) and between upper chest expansion and PCF (r=0.59, p<0.01). There were significant correlations between lower chest expansion and TRROM (r=0.50, p<0.05) and between lower chest expansion and TLFROM (r=0.51, p<0.05).
This study demonstrates the relationship between upper chest expansion and PCF. Upper chest expansion exercises should be considered to improve the PCF in stroke patients. In addition, a very strong positive correlation between TRROM and TLFROM was demonstrated. TRROM and TLFROM exercises should be considered to improve the lower chest expansion in stroke patients.
This study demonstrates the relationship between upper chest expansion and PCF. Upper chest expansion exercises should be considered to improve the PCF in stroke patients. In addition, a very strong positive correlation between TRROM and TLFROM was demonstrated. TRROM and TLFROM exercises should be considered to improve the lower chest expansion in stroke patients.
To analyze the prevalence of body dysmorphic disorder (BDD) in a general otolaryngology population presenting to an outpatient clinic.
Prospective prevalence study.
Single tertiary academic otolaryngology clinic.
New patients over 18 years of age who presented to an academic otolaryngology clinic between August 2018 and May 2021 completed a questionnaire including demographic questions and the validated Body Dysmorphic Disorder Questionnaire (BDDQ). Data collected from the questionnaires were analyzed to assess demographics and prevalence of BDD in an otolaryngology clinic.
Of the 242 patients queried, 15 patients screened positive for BDD. The screened prevalence of BDD was determined to be 6.2%. None of the patients had previously been diagnosed with BDD. The prevalence of prior mental health diagnoses was 34.3%. These patients had initially presented for a variety of otolaryngologic concerns and had pre-existing diagnoses of anxiety, depression, obsessive-compulsive, bipolar and eating disorders.
The prevalence of BDD in our population of new patients presenting to an academic otolaryngology practice (6.2%) is higher than that of the general population (1.9%).
The prevalence of BDD in our population of new patients presenting to an academic otolaryngology practice (6.2%) is higher than that of the general population (1.9%).Pediatric cancer treatment, especially for brain tumors, can have profound and complicated late effects. With the survival rates increasing because of improved detection and treatment, a more comprehensive understanding of the impact of current treatments on neurocognitive function and brain structure is critically needed. A frontline medulloblastoma clinical trial (SJMB03) has collected data, including treatment, clinical, neuroimaging, and cognitive variables. Advanced methods for modeling and integrating these data are critically needed to understand the mediation pathway from the treatment through brain structure to neurocognitive outcomes. We propose an integrative Bayesian mediation analysis approach to model jointly a treatment exposure, a high-dimensional structural neuroimaging mediator, and a neurocognitive outcome and to uncover the mediation pathway. The high-dimensional imaging-related coefficients are modeled via a binary Ising-Gaussian Markov random field prior (BI-GMRF), addressing the sparsity, spatial dependency, and smoothness and increasing the power to detect brain regions with mediation effects. Numerical simulations demonstrate the estimation accuracy, power, and robustness. For the SJMB03 study, the BI-GMRF method has identified white matter microstructure that is damaged by cancer-directed treatment and impacts late neurocognitive outcomes. The results provide guidance on improving treatment planning to minimize long-term cognitive sequela for pediatric brain tumor patients.
Antimicrobial drugs are frequently administered in veal calves, but investigations on associations with antimicrobial susceptibility of bacteria are scarce and convey partly contradictory findings. The aim of this study was to investigate associations of antimicrobial use (AMU) during the fattening period with antimicrobial susceptibility shortly before slaughter.
Detailed treatment data of 1905 veal calves from 38 farms were collected prospectively during monthly farm visits for 1 year (n = 1864 treatments, n = 535 visits); 1582 Escherichia coli, 1059 Pasteurella multocida and 315 Mannheimia haemolytica were isolated from rectal and nasopharyngeal swabs collected before slaughter and subjected to antimicrobial susceptibility testing by microdilution. Associations of antimicrobial treatments with resistant isolates were investigated at the calf level.
Associations of AMU with antimicrobial resistance were observed using generalized linear models. For E. UC2288 order coli, the odds of being resistant were increased with increased AMU (OR 1.36 when number of treatments >1, P = 0.066). Use of tetracyclines was associated with resistance to tetracycline (OR 1.86, P < 0.001) and use of penicillins was associated with resistance to ampicillin (OR 1.66, P = 0.014). No significant associations were observed for P. multocida (use of aminoglycosides OR 3.66 for resistance to spectinomycin, P = 0.074). For M. haemolytica, the odds of being resistant were increased with increased AMU (OR 4.63, P < 0.001), and use of tetracyclines was associated with resistance to tetracycline (OR 6.49, P < 0.001).
Occurrence of resistant bacteria shortly before slaughter was associated with AMU in veal calves. Prudent and appropriate use may contribute to limit the selection of resistant bacteria on veal farms.
Occurrence of resistant bacteria shortly before slaughter was associated with AMU in veal calves. Prudent and appropriate use may contribute to limit the selection of resistant bacteria on veal farms.MicroRNAs (miRNAs) are endogenous 20-24-nucleotide non-coding RNAs that play important regulatory roles in many biological processes in eukaryotes. miRNAs modulate the expression of target genes at the post-transcriptional level by transcript cleavage or translational inhibition. The identification of miRNA target genes has been extensively investigated in Arabidopsis and rice, but an in-depth global analysis of miRNA-mediated target regulation is still lacking in maize. Here, we report a transcriptome-wide identification of miRNA targets by analyzing parallel analysis of RNA ends (PARE) datasets derived from nine different tissues at five developmental stages of the maize (Zea mays L.) B73 cultivar. In total, 246 targets corresponding to 60 miRNAs from 25 families were identified, including transcription factors and other genes. In addition, PARE analysis revealed that miRNAs guide specific target transcript cleavage in a tissue-preferential manner. Primary transcripts of MIR159c and MIR169e were found to be cleaved by mature miR159 and miR169, respectively, indicating a negative-feedback regulatory mechanism in miRNA biogenesis. Moreover, several miRNA-target gene pairs involved in seed germination were identified and experimentally validated. Our PARE analyses generated a wide and detailed miRNA-target interaction atlas, which provides a valuable resource for investigating the roles of miRNAs and their targets in maize.
Developmental ontogeny of neonatal thrombopoiesis retains characteristics that are distinct from adults although molecular mechanisms remain unestablished.
We applied multiparameter quantitative platelet responses with integrated ribosome profiling/transcriptomic studies to better define gene/pathway perturbations regulating the neonatal-to-adult transition. A bioinformatics pipeline was developed to identify stable, neonatal-restricted platelet biomarkers for clinical application.
Cord blood (CB) platelets retained the capacity for linear agonist-receptor coupling linked to phosphatidylserine (PS) exposure and α-granule release, although a restricted block in cross-agonist activation pathways was evident. Functional immaturity of synergistic signaling pathways was due to younger ontogenetic age and singular underdevelopment of the protein secretory gene network, with reciprocal expansion of developmental pathways (E2F, G2M checkpoint, c-Myc) important for megakaryocytopoiesis. Genetic perturbations regulating vesicle transport and fusion (TOM1L1, VAMP3, SNAP23, and DNM1L) and PS exposure and procoagulant activity (CLCN3) were the most significant, providing a molecular explanation for globally attenuated responses.
