Therapeutic potential of siRNA PMP22-SQ nanoparticles for Charcot-Marie-Tooth 1A neuropathy in rodents and non-human primates.

Small interfering RNA (siRNA) has shown promising results for the treatment of Charcot-Marie-Tooth disease 1A (CMT1A) caused by overexpression of peripheral myelin protein (PMP22), leading to myelin dysfunction and axonal damage. Recently, we developed siRNA PMP22-squalene (SQ) nanoparticles (NPs) for intravenous use. Three consecutive injections of siRNA PMP22-SQ NPs at a cumulative dose of 1.

Anxiety During Employment-Seeking for Autistic Adults.

Background/objectives: Autistic adults are more likely to be unemployed compared to neurotypical adults and those with disability. To address these poorer employment outcomes, it is important to consider factors that may be impacting on autistic adults' employment outcomes. Anxiety is a common co-occurring condition for autistic adults; however, there is little research on how anxiety affects or influences autistic people's experience across the employment-seeking process.

Impact of intravenous antihypertensive therapy on cerebral blood flow and neurocognition: a systematic review and meta-analysis.

Background: Intravenous antihypertensivedrugs are commonly used in acute care settings, yet their impact on cerebral blood flow (CBF) remains uncertain.

Methods: A systematic review and meta-analysis of 50 studies evaluated the effects of commonly used i.v.

Computed tomography coronary angiography as an alternative to invasive coronary angiography in preoperative evaluation for mitral surgery.

Objective: The aim of this study was to assess the effectiveness of non-invasive coronary computed tomography angiography (CTA) as an alternative to traditional invasive coronary angiography (ICA) for preoperative evaluation of low risk patients with an indication for non-emergent mitral surgery and to assess any difference in adverse outcomes from this strategy.

Methods: This was a retrospective cohort study from a single center with data collected from July 2014 - June 2020 for 1576 patients undergoing mitral valve surgery of all etiologies - excluding patients requiring coronary artery bypass surgery. We performed a 1:2 propensity score matching for patients evaluated with CT (n=345) to those evaluated with ICA (n=602).

Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes.

Purpose: Corneal dysmorphologies (CDs) are typically classified as either regressive degenerative corneal dystrophies (CDtrs) or defective growth and differentiation-driven corneal dysplasias (CDyps). Both eye disorders have multifactorial etiologies. While previous work has elucidated many aspects of CDs, such as presenting symptoms, epidemiology, and pathophysiology, the genetic mechanisms remain incompletely understood.

Hemangioma of the Mitral Valve and Aortomitral Curtain in an Adolescent.

A hemangioma of the mitral valve and aortomitral curtain was incidentally discovered in an adolescent. The lesion was surgically excised, and the mitral valve was reconstructed with complete preservation of valvular function. Pertinent principles of multimodality imaging-based diagnosis and nuances of operative management of this rare, vascular tumor are discussed.

Electroconvulsive therapy in the treatment of catatonia in a patient with Budd Chiari syndrome: a case report.

Catatonia may manifest as an independent entity or as a feature of a neuropsychiatric or medical illness. While electroconvulsive therapy (ECT) is the gold standard treatment for catatonia, it is typically administered if the patient's symptoms fail to respond to benzodiazepines. We describe the case of a 22-year-old male with Budd Chiari induced cirrhosis and no prior psychiatric history, who presented with symptoms of psychosis and hepatic encephalopathy, was treated in the ICU for multi-factorial delirium, developed symptoms of catatonia that failed to respond to lorazepam, ultimately requiring ECT with a favorable response.

Trapping Anions within Stacks of Tetra-Urea Macrocycles.

Designing molecular receptors that bind anions in water is a significant challenge, and an even greater difficulty lies in using these receptors to remove anions from water without resorting to the hazardous liquid-liquid extraction approach. We here demonstrate an effective and synthetically simple strategy toward these goals by exploiting ion-pair assembly of macrocycles. Our anion binding ensemble consists of an octa-chloro tetra-urea macrocyclic anion receptor (ClTU), which forms water-dispersible aggregates, and a tetra-cationic fluorescent dye 5,10,15,20-tetrakis(1-methyl-4-pyridinio)porphyrin (TMPyP4), which provides Coulombic stabilization and fluorescence reporting of anion binding in an ion-pair assembly.

Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy: A Randomized Clinical Trial With Open-Label Extension.

Importance: There is a lack of long-term efficacy and safety data on hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) and on RNA interference (RNAi) therapeutics in general. This study presents the longest-term data to date on patisiran for hATTR-PN.

Objective: To present the long-term efficacy and safety of patisiran in adults with hATTR-PN.

Minimal invasive biopsies are highly sensitive for amyloid detection in hereditary transthyretin amyloidosis with polyneuropathy.

Objective: To assess the effectiveness of labial minor salivary gland biopsy (LSGB) alone or in combination with punch skin biopsy (SB) for the detection of amyloid deposits in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).

Methods: In this single-center retrospective study, Congo red staining of minimal invasive LSGB (4 mm) and SB (3 mm) was assessed in ATTRv-PN patients consecutively evaluated between 2012 and 2023.

Results: Histopathological data of 171 ATTRv-PN, including 49 early-onset p.

Predicting the Mechanical Properties of Supramolecular Gels.

The prediction of gelation is an important target, yet current models do not predict any post-gel properties. Gels can be formed through the self-assembly of many molecules, but close analogs often do not form gels. There has been success using a number of computational approaches to understand and predict gelation from molecular structures.

Search for Fractionally Charged Particles with CUORE.

The Cryogenic Underground Observatory for Rare Events (CUORE) is a detector array comprised by 988 5  cm×5  cm×5  cm TeO_{2} crystals held below 20 mK, primarily searching for neutrinoless double-beta decay in ^{130}Te. Unprecedented in size among cryogenic calorimetric experiments, CUORE provides a promising setting for the study of exotic throughgoing particles. Using the first tonne year of CUORE's exposure, we perform a search for hypothesized fractionally charged particles (FCPs), which are well-motivated by various standard model extensions and would have suppressed interactions with matter.

Long COVID in transgender and gender nonbinary people in the United States.

Despite recommendations in the US National Research Action Plan on Long COVID, gender identity is rarely reported in research and surveillance used to guide public health programming and clinical care. We analyzed data from a cross-sectional study of COVID-19 in a nationwide sample of transgender and nonbinary (TNB) people (N = 2,134). Participants were surveyed between June 14, 2021 and May 1, 2022.

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.

Advancing Psychedelic-Assisted Therapy in Missouri (MO-PAT): Innovation at the Speed of Safety.

The United States is facing a growing behavioral health crisis. Now more than ever, novel, safe and effective treatments are needed. Over the past decade, clinical trials of psychedelic-assisted psychotherapies (PAT) have shown promising results for treating a number of common behavioral health conditions with minimal adverse effects.

Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic.

Purpose: Patients with neurodevelopmental disorders (NDDs) have high rates of neuropsychiatric comorbidities. Genomic medicine may help guide care because pathogenic variants are identified in up to 50% of patients with NDDs. We evaluate the impact of a genomics-informed, multidisciplinary, neuropsychiatric specialty clinic on the diagnosis and management of patients with NDDs.

A Call to Action: Unraveling the Nuance of Adapted Eating Behaviors in Individuals With Gastrointestinal Conditions.

The primary aim of this expert narrative review is to unravel the complexities of feeding and eating disorders in the gastroenterology practice setting. We aim to critically assess current assessment screening tools for eating and feeding disorders to gain a comprehensive understanding of how these tools may be misconstrued in the context of gastrointestinal conditions. Additionally, our objective is to highlight the potential for over-pathologizing and under-pathologizing eating behavior in this patient population.

Illuminating anions in biology with genetically encoded fluorescent biosensors.

Anions are critical to all life forms. Anions can be absorbed as nutrients or biosynthesized. Anions shape a spectrum of fundamental biological processes at the organismal, cellular, and subcellular scales.

Check with the Intended Audience First! Content Validation as a Method for Inclusive Research for Primary Care Engagement in Rural Appalachia.

Introduction: To date, referral practices based on social determinants of health (SDOH) among primary care providers (PCPs) and clinic staff in rural regions, including Appalachian North Carolina (NC), are not well understood.

Purpose: This study aims to develop and content validate a primary care engagement (PCE) survey to assess (1) engagement and burnout; (2) referral practices; and (3) self-efficacy and confidence in making referrals based on SDOH among PCPs and clinic staff in Appalachian NC.

Methods: Using the Social-Ecological Model as a theoretical framework, researchers developed a 37-item PCE survey.