Variants in associated with cancer and rare developmental and epileptic encephalopathy.

RHOBTB2 is a member of the Rho GTPases subfamily of signaling proteins, known tumor suppressors whose loss of function and decreased expression is associated with cancer onset. Beyond its cancer-related role, RHOBTB2 is implicated in rare neurodevelopmental disorders, specifically -related disorders, recognized in 2018 as a subtype of developmental and epileptic encephalopathies (DEE). Common symptoms of these disorders include early-onset epilepsy, severe intellectual disability, microcephaly, and movement disorders.

A Proactive Telephonic Outreach Program to Address Unmet Social Needs of Children in Immigrant and Refugee Families at a Federally Qualified Health Center.

Objective: We developed a telephonic outreach and care coordination program for children in immigrant and refugee families (CIRF) at a federally qualified health center (FQHC) in North Carolina to address unmet health-related social needs (HRSN).

Methods: Participants were recruited between December 2020 and October 2021. Eligible children were ages 0-5, non-English speaking, and were seen at the FQHC in the 2 years prior.

Directional Stimulus-Evoked Pallidal Electrophysiology in Primary Dystonia.

Background: Deep brain stimulation for dystonia improves motor symptoms but variable and delayed responses challenge patient selection, targeting, and device programming.

Case Report: Here we studied intracranial electrophysiology in a patient with primary dystonia and observed evoked resonant neural activity (ERNA) in the globus pallidus interna. These local stimulus-evoked potentials displayed refractory periods and paired-pulse facilitation at clinically relevant interstimulus intervals.

Systematized Serendipity: Fishing Expeditions for Anesthetic Drugs and Targets.

Most of science involves making observations, forming hypotheses, and testing those hypotheses, to form valid conclusions. However, a distinct, longstanding, and very productive scientific approach does not follow this paradigm; rather, it begins with a screen through a random collection of drugs or genetic variations for a particular effect or phenotype. Subsequently, the identity of the drug or gene is determined, and only then are hypotheses formed and the more standard scientific method employed.

Hypoxia-induced mitochondrial stress granules.

Perturbations of mitochondrial proteostasis have been associated with aging, neurodegenerative diseases, and recently with hypoxic injury. While examining hypoxia-induced mitochondrial protein aggregation in C. elegans, we found that sublethal hypoxia, sodium azide, or heat shock-induced abundant ethidium bromide staining mitochondrial granules that preceded evidence of protein aggregation.

Risk Factors for De Novo Overactive Bladder After Midurethral Sling.

Importance: The low incidence of de novo overactive bladder (OAB) symptoms after a midurethral sling (MUS) procedure better informs preoperative counseling.

Objective: The study aimed to measure the incidence and risk factors for de novo OAB after MUS.

Study Design: This was a retrospective cohort study of de novo OAB symptoms in patients who underwent MUS surgery in a health maintenance organization between January 1, 2008, and September 30, 2016.

Rectocele: Correlation Between Defecography and Physical Examination.

Importance: There is a lack of consensus regarding the clinical applicability of fluoroscopic defecography in evaluation of pelvic organ prolapse.

Objectives: The aim was to evaluate the association between rectocele on defecography and posterior vaginal wall prolapse (PVWP) on physical examination. The secondary objective was to describe radiologic and clinical predictors of surgical intervention and outcomes.

The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren.

There are over 6,000 different rare diseases estimated to impact 300 million people worldwide. As genetic testing becomes more common practice in the clinical setting, the number of rare disease diagnoses will continue to increase, resulting in the need for novel treatment options. Identifying treatments for these disorders is challenging due to a limited understanding of disease mechanisms, small cohort sizes, interindividual symptom variability, and little commercial incentive to develop new treatments.

A Tailored SMS Text Message-Based Intervention to Facilitate Patient Access to Referred Community-Based Social Needs Resources: Protocol for a Pilot Feasibility and Acceptability Study.

Background: Health care providers are increasingly screening patients for unmet social needs (eg, food, housing, transportation, and social isolation) and referring patients to relevant community-based resources and social services. Patients' connection to referred services is often low, however, suggesting the need for additional support to facilitate engagement with resources. SMS text messaging presents an opportunity to address barriers related to contacting resources in an accessible, scalable, and low-cost manner.

Severe Polyethylene Glycol Allergy Considerations for Perioperative Management: A Case Report.

Patients with severe polyethylene glycol (PEG) allergies face broad challenges, especially when presenting to the hospital for surgery, as PEG is used often as an excipient in medications and in medical supplies. Although rare, this allergy is increasingly reported and likely underdiagnosed. We present a patient with known past anaphylactic reaction to PEG and a detailed account of her perioperative course.

Training student volunteers as community resource navigators to address patients' social needs: A curriculum toolkit.

Introduction: Few resources are available to train students to provide patients assistance for obtaining needed community-based services. This toolkit outlines a curriculum to train student volunteers to become "community resource navigators" to serve patients telephone at partner health sites.

Methods: University students co-designed the Help Desk navigator program and training for volunteer navigators as part of an academic-community partnership with a local Federally Qualified Health Center (FQHC).

Implementation mapping for tobacco cessation in a federally qualified health center.

Background: Implementation mapping (IM) is a promising five-step method for guiding planning, execution, and maintenance of an innovation. Case examples are valuable for implementation practitioners to understand considerations for applying IM. This pilot study aimed to determine the feasibility of using IM within a federally qualified health center (FQHC) with limited funds and a 1-year timeline.

Daf-16 mediated repression of cytosolic ribosomal protein genes facilitates a hypoxia sensitive to hypoxia resistant transformation in long-lived germline mutants.

In C. elegans, germline ablation leads to long life span and stress resistance. It has been reported that mutations that block oogenesis or an upstream step in germline development confer strong resistance to hypoxia.

Analysis of histomorphometric variables: Proposal and validation of osteon definitions.

Histological analysis of bone tissue has been used to explore a variety of questions relating to age-at-death, habitual behaviors, health, and nutritional stress. Identification of intact and fragmentary osteons is of key interest to many researchers in these studies, yet the definitions of these features vary between researchers making cross-study comparisons problematic. Furthermore, histological variable definitions are often ambiguous or require subjective classifications by the observer.

Neuromodulation.

Sacral neuromodulation (SNM) has been available in the United States for more than 20 years and is a guideline-recommended therapy by both the American Urological Association and the American Society of Colon and Rectal Surgeons, with proven long-term success for urinary urgency incontinence, urinary urgency frequency, nonobstructive urinary retention, and fecal incontinence. Initially the therapy involved a more invasive surgical approach that included a large cut down over the sacrum. This article reviews recent advancements in SNM therapy including updates in best practices for implant technique, technological innovations, and the new clinical literature relevant to contemporary practice.

Water-soluble tocopherol derivatives inhibit SARS-CoV-2 RNA-dependent RNA polymerase.

The recent emergence of a novel coronavirus, SARS-CoV-2, has led to the global pandemic of the severe disease COVID-19 in humans. While efforts to quickly identify effective antiviral therapies have focused largely on repurposing existing drugs , the current standard of care, remdesivir, remains the only authorized antiviral intervention of COVID-19 and provides only modest clinical benefits . Here we show that water-soluble derivatives of α-tocopherol have potent antiviral activity and synergize with remdesivir as inhibitors of the SARS-CoV-2 RNA-dependent RNA polymerase (RdRp).

Muscle insulin-like growth factor-I modulates murine craniofacial bone growth.

Insulin-like growth factor I (IGF-I) is essential for muscle and bone development and a primary mediator of growth hormone (GH) actions. While studies have elucidated the importance of IGF-I specifically in muscle or bone development, few studies to date have evaluated the relationship between muscle and bone modulated by IGF-I in vivo, during post-natal growth. Mice with muscle-specific IGF-I overexpression (mIgf1+/+) were utilised to determine IGF-I- and muscle-mass-dependent effects on craniofacial skeleton development during post-natal growth.

Effect of the mitochondrial unfolded protein response on hypoxic death and mitochondrial protein aggregation.

Mitochondria are the main oxygen consumers in cells and as such are the primary organelle affected by hypoxia. All hypoxia pathology presumably derives from the initial mitochondrial dysfunction. An early event in hypoxic pathology in C.

Vulvovaginal involvement in Stevens-Johnson syndrome and toxic epidermal necrolysis: management and techniques used to reduce gynecologic sequelae.

Background: Vulvovaginal involvement in Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) is common, likely underdiagnosed, and can result in severe sequelae if not managed acutely. There are few studies on acute management of vulvovaginal SJS/TEN. Current recommendations are predominantly based on expert opinion.

A Community Resource Navigator Model: Utilizing Student Volunteers to Integrate Health and Social Care in a Community Health Center Setting.

Introduction: While unmet social needs are major drivers of health outcomes, most health systems are not fully integrated with the social care sector to address them. In this case study, we describe the development and implementation of a model utilizing student volunteer community resource navigators to help patients connect with community-based organizations (CBOs). We then detail initial implementation outcomes and practical considerations for future work.

Addressing the Social Determinants of Health During the COVID-19 Pandemic: Ensuring Equity, Quality, and Sustainability.

The COVID-19 pandemic has highlighted the importance of social determinants of health in affecting health outcomes. Populations with high social risk are disproportionately impacted by the virus and its economic consequences. Primary care practices have a unique opportunity to implement interventions to mitigate their patients' unmet social needs, such as food and income insecurity.

A Chart Review to Assess the Response of Veterans Suffering from Tinnitus to Alpha Burst Transcranial Magnetic Stimulation.

Objective: The purpose of this chart review was to assess the response of veterans suffering from tinnitus to Magnetic EEG/EKGguided resonance therapy and Alpha Burst Stimulation (ABS), while also investigating the safety profile of this therapy combination. EEG/EKG-guided Repetitive Transcranial Magnetic Stimulation (rTMS) delivers high-energy electromagnetic pulses to induce current flow in the neocortex. ABS provides rTMS pulses in short, high-frequency bursts.

Coordinate Regulation of Ribosome and tRNA Biogenesis Controls Hypoxic Injury and Translation.

The translation machinery is composed of a myriad of proteins and RNAs whose levels must be coordinated to efficiently produce proteins without wasting energy or substrate. However, protein synthesis is clearly not always perfectly tuned to its environment, as disruption of translation machinery components can lengthen lifespan and stress survival. While much has been learned from bacteria and yeast about translational regulation, much less is known in metazoans.