Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome.

Short tandem repeat (STR) instability causes transcriptional silencing in several repeat expansion disorders. In fragile X syndrome (FXS), mutation-length expansion of a CGG STR represses FMR1 via local DNA methylation. Here, we find megabase-scale H3K9me3 domains on autosomes and encompassing FMR1 on the X chromosome in FXS patient-derived iPSCs, iPSC-derived neural progenitors, EBV-transformed lymphoblasts, and brain tissue with mutation-length CGG expansion.

A Systematic Review of Pharyngeal High-Resolution Manometry Normative Data.

Purpose: The utilization of high-resolution pharyngeal manometry (HRPM) in the evaluation of pharyngeal dysphagia has been increasing; however, standardization of its use has lagged behind. Without standardization using normative values, it is difficult for clinicians to adopt this emerging technology into meaningful use. Our goal is to map and compare the published normative values for common HRPM metrics in order to help establish consensus reference values.

'Who you gonna call?' A qualitative study of psychiatrists accessing mental health services.

Objective: To identify motivation, capabilities and opportunities that enable psychiatrists and registrars to seek help for mental health problems and to inform design of interventions.

Method: Data collected in qualitative semi-structured interviews were analysed using a framework approach with the COM-B model of behaviour as a theoretical frame.

Results: Accounts of the eight participants show help-seeking to be a complex process requiring cognitive and emotional capability to recognise a problem or goal, acceptance of vulnerability, and facilitated by access to professional networks.

A retrospective study of endogenous endophthalmitis-related pyogenic liver abscess: An increasing complication in North Vietnam.

Introduction: Endogenous endophthalmitis-related pyogenic liver abscess is a rare complication of metastatic infection. In most cases, visual acuity results are often impaired, even blind, and even with aggressive treatment with topical antibiotics, the final results are unsatisfactory. The objective of this study is to retrospectively based on medical records to describe clinical features, risk factors, and visual outcomes of patients with endogenous endophthalmitis-related pyogenic liver abscesses.

Results of acute cerebral infarction treatment with hyperbaric oxygen therapy, 2020-2022.

Background: Cerebral stroke is the third leading cause of death after cardiovascular disease, cancer and the leading cause of disability for patients. Hyperbaric oxygen is a non-drug treatment that has the potential to improve brain function for patients with ischaemic stroke. The objective of this study was to evaluate the results of treatment of acute cerebral infarction with hyperbaric oxygen therapy (HBOT).

Strategies for the Surgical Management of Highly Aggressive Williams Syndrome Aortopathy: A Three Case Report.

Severe aortopathy in Williams syndrome can sometimes present with an initial ascending aortic pathology, followed in short order by more distal multilevel obstruction and recurrence requiring reintervention. In this series, an early, comprehensive surgical approach using a combination of various access and perfusion strategies yielded excellent long-term results.

Intravesical Ty21a treatment of non-muscle invasive bladder cancer induces immune responses that correlate with safety and may be associated to therapy potential.

Background: Standard of care treatment of non-muscle invasive bladder cancer (NMIBC) with intravesical Bacillus Calmette Guérin (BCG) is associated with side effects, disease recurrence/progression and supply shortages. We recently showed in a phase I trial (NCT03421236) that intravesical instillation in patients with NMIBC with the maximal tolerated dose of Ty21a/Vivotif, the oral vaccine against typhoid fever, might have a better safety profile. In the present report, we assessed the immunogenicity of intravesical Ty21a in patients of the clinical trial that had received the maximal tolerated dose and compared it with data obtained in patients that had received standard BCG.

Placebo effect in randomized controlled trials for Meniere's disease: A meta-analysis.

Purpose: Meniere's Disease is a condition known for its recurrent vertigo, fluctuating sensorineural hearing loss, aural fullness, and tinnitus. Previous studies have demonstrated significant influence of placebo treatments. Our objective was to quantify the magnitude of the placebo effect in randomized controlled trials for Meniere's Disease.

Lateral subvastus approach to total knee arthroplasty: A novel surgical technique and retrospective review of 931 consecutive cases.

Background: The lateral muscle-sparing approach total knee arthroplasty (TKA) has been detailed and indicated selectively for severe valgus deformities. We present the largest, to date, consecutive series of lateral subvastus TKAs and we hypothesize that preoperative alignments would demonstrate no differences in range of motion (ROM), knee society scores (KSS), kneeling ability, patient satisfaction, or complications.

Materials And Methods: This retrospective study examined 931 primary TKAs in 824 patients performed through the lateral subvastus approach with one to two years follow-up.

Comparison of Transcutaneous and Percutaneous Implantable Hearing Devices for the Management of Congenital Aural Atresia: A Systematic Review and Meta-Analysis.

Objective: To compare audiometric outcomes, complications, and revisions required for percutaneous (pBCD) versus transcutaneous (tBCD) implantable bone-conduction devices for the treatment of hearing loss associated with congenital aural atresia (CAA).Databases Reviewed.PubMed, Scopus, CINAHL.

Pasa: leveraging population pangenome graph to scaffold prokaryote genome assemblies.

Whole genome sequencing has increasingly become the essential method for studying the genetic mechanisms of antimicrobial resistance and for surveillance of drug-resistant bacterial pathogens. The majority of bacterial genomes sequenced to date have been sequenced with Illumina sequencing technology, owing to its high-throughput, excellent sequence accuracy, and low cost. However, because of the short-read nature of the technology, these assemblies are fragmented into large numbers of contigs, hindering the obtaining of full information of the genome.

Use of Complementary and Integrative Medicine for Alzheimer's Disease and Cognitive Decline.

Integrative medicine takes a holistic approach because it considers multiple aspects of the individual. This includes a person's physical, emotional, interpersonal, behavioral, nutritional, environmental, and spiritual dimensions of wellbeing that contribute to the Whole Person Health. There is increasing interest and popularity of integrative approaches to treating cognitive decline and dementia because of the multifactorial nature of aging and the limited pharmacological interventions available in treating cognitive decline and dementia, particularly Alzheimer's disease, the most common type of dementia.

The readability of online patient education materials on maxillomandibular advancement surgery.

Study Objectives: Maxillomandibular advancement (MMA) is an effective surgical option for patients suffering from obstructive sleep apnea (OSA). As a relatively new treatment option, patients may turn to the Internet to learn more. However, online patient education materials (OPEMs) on MMA may be written at a higher literacy level than recommended for patients.

Selection of spermatozoa with high motility and quality from bovine frozen-thawed semen using the centrifuge-free device.

This study aimed to assess the potential of the centrifuge-free commercial device (MIGLIS®) in selecting functional frozen-thawed bovine sperm by migration-sedimentation, its effect on embryo development, and compare the potential with that of centrifugation-based techniques, including washing and Percoll density gradient centrifugation (DGC). In experiment 1, different dilutions (1.5×, 2×, and 3×) of frozen-thawed spermatozoa were assessed to identify the adequate one for the MIGLIS method.

Telemedicine in home-based care for COVID-19 patients.

Background: The COVID-19 pandemic has made devastating impacts on public health and global economy. While most people experience mild symptoms, it is highly transmissible and deadly in at-risk populations. Telemedicine has the potential to prevent hospitalization and provide remote care.

Genome organization regulates nuclear pore complex formation and promotes differentiation during Drosophila oogenesis.

Genome organization can regulate gene expression and promote cell fate transitions. The differentiation of germline stem cells (GSCs) to oocytes in Drosophila involves changes in genome organization mediated by heterochromatin and the nuclear pore complex (NPC). Heterochromatin represses germ-cell genes during differentiation and NPCs anchor these silenced genes to the nuclear periphery, maintaining silencing to allow for oocyte development.

A nuclear architecture screen in identifies Stonewall as a link between chromatin position at the nuclear periphery and germline stem cell fate.

The association of genomic loci to the nuclear periphery is proposed to facilitate cell-type specific gene repression and influence cell fate decisions. However, the interplay between gene position and expression remains incompletely understood, in part because the proteins that position genomic loci at the nuclear periphery remain unidentified. Here, we used an Oligopaint-based HiDRO screen targeting ~1000 genes to discover novel regulators of nuclear architecture in cells.

The placebo effect in randomized-controlled trials of medical treatments for chronic rhinosinusitis: A systematic review and meta-analysis.

Background: The placebo effect observed in clinical trials evaluating medical treatments for chronic rhinosinusitis (CRS) is not well understood. This systematic review and meta-analysis sought to characterize the placebo effect present within CRS outcomes.

Methods: A systematic review of PubMed, Scopus, and Cumulated Index in Nursing and Allied Health Nursing (CINAHL) was performed.

Tunable Electronic Properties, Carrier Mobility, and Contact Characteristics in Type-II BSe/ScCF Heterostructures toward Next-Generation Optoelectronic Devices.

Conducting heterostructures have emerged as a promising strategy to enhance physical properties and unlock the potential application of such materials. Herein, we conduct and investigate the electronic and transport properties of the BSe/ScCF heterostructure using first-principles calculations. The BSe/ScCF heterostructure is structurally and thermodynamically stable, indicating that it can be feasible for further experiments.

CTCF/cohesin organize the ground state of chromatin-nuclear speckle association.

The interchromatin space in the cell nucleus contains various membrane-less nuclear bodies. Recent findings indicate that nuclear speckles, comprising a distinct nuclear body, exhibit interactions with certain chromatin regions in a ground state. Key questions are how this ground state of chromatin-nuclear speckle association is established and what are the gene regulatory roles of this layer of nuclear organization.

National nutrition surveillance programmes in 18 countries in South-East Asia and Western Pacific Regions: a systematic scoping review.

Objective: To identify and analyse ongoing nutrition-related surveillance programmes led and/or funded by national authorities in countries in South-East Asian and Western Pacific Regions.

Methods: We systematically searched for publications in PubMed® and Scopus, manually searched the grey literature and consulted with national health and nutrition officials, with no restrictions on publication type or language. We included low- and middle-income countries in the World Health Organization South-East Asia Region, and the Association of Southeast Asian Nations and China.

Toward sustainable development goals in gender inequality: an analysis of gender preferences among urban pregnant women in a Southeast Asian country.

Background: Gender-biased discrimination and preferences are global phenomena, particularly son preferences. However, updated evidence about this issue in Vietnam has not yet been provided. Therefore, this study aimed to examine the gender preferences among pregnant women and identify associated factors of such preferences.

Reverse Engineering of a Pathogenic Antibody Reveals the Molecular Mechanism of Vaccine-Induced Immune Thrombotic Thrombocytopenia.

The massive COVID-19 vaccine roll-out campaign illuminated a range of rare side effects, the most dangerous of which─vaccine-induced immune thrombotic thrombocytopenia (VITT)─is caused by adenoviral (Ad)-vectored vaccines. VITT occurrence had been linked to the production of pathogenic antibodies that recognize an endogenous chemokine, platelet factor 4 (PF4). Mass spectrometry (MS)-based evaluation of the ensemble of anti-PF4 antibodies obtained from a VITT patient's blood indicates that the major component is a monoclonal antibody.