The Experiences of Patients With Rare Diseases in Pennsylvania: A Community-Based Study.

Objective: Rare diseases collectively affect approximately 30 million people in the United States. Despite advances in genomic medicine, early diagnosis is challenging because of limited awareness of, accessibility to, and disparities in health care resources. We assessed the real-world experiences of patients with rare diseases in Pennsylvania and evaluated the effect of delayed diagnosis on psychosocial and financial burdens.

Relationship Between Household Social Risk and Symptoms of Depression and Anxiety in Adolescents: A Retrospective Cohort Study.

Research suggests that household social risks are associated with worse mental health in adolescents, but prior studies have been limited. We evaluated the association between social risks and symptoms of depression and anxiety in adolescents 1 year later by conducting a retrospective cohort study at an integrated health system with 45 practices. Adolescents were screened for depression using the Patient Health Questionnaire-2 (PHQ-2) and anxiety using the Generalized Anxiety Disorder-2 (GAD-2).

GABA receptor availability in clinical high-risk and first-episode psychosis: a [C]Ro15-4513 positron emission tomography study.

Disrupted gamma-aminobutyric acid (GABA) neurotransmission may contribute to the pathophysiology of schizophrenia. Reductions in hippocampal GABAergic neurons have been found in schizophrenia, and increased hippocampal perfusion has been described in schizophrenia and in people at clinical high-risk for psychosis (CHRp). We have also found decreases in hippocampal GABA receptors containing the α5 subunit (GABARα5) in a well-validated neurodevelopmental rat model of relevance for schizophrenia.

Role of hydrogen sulfide in catalyzing the formation of NO-ferroheme.

We recently demonstrated a rapid reaction between labile ferric heme and nitric oxide (NO) in the presence of reduced glutathione (GSH) or other small thiols in a process called thiol-catalyzed reductive nitrosylation, yielding a novel signaling molecule, labile nitrosyl ferrous heme (NO-ferroheme), which we and others have shown can regulate vasodilation and platelet homeostasis. Red blood cells (RBCs) contain high concentrations of GSH, and NO can be generated in the RBC via nitrite reduction and/or RBC endothelial nitric oxide synthase (eNOS) so that NO-ferroheme could, in principle, be formed in the RBC. NO-ferroheme may also form in other cells and compartments, including in plasma, where another small and reactive thiol species, hydrogen sulfide (HS/HS), is also present and may catalyze NO-ferroheme formation akin to GSH.

Dissecting the clinical and pathophysiological complexity of fundus tessellation.

Fundus tessellation (FT)-also referred to as tigroid or mosaic fundus-is characterized by increased visibility of underlying choroidal vessels. While often a physiological finding, FT may also signal early pathology in conditions such as high myopia, choroidal atrophy, or pigmentary disorders. We synthesize current understanding of the anatomical, optical, and imaging factors influencing FT appearance, including the roles of axial elongation, melanin distribution, and media clarity.

Exploring Molecular Characteristics and Therapeutic Strategies for Primary Sinonasal Mucosal Melanoma with Distant Metastasis.

Sinonasal mucosal melanoma (SNMM) is a rare aggressive malignancy of the sinonasal tract. Due to its advanced clinical presentation and frequent late-stage diagnosis, the 5-year survival rate is less than 30%, with an even worse prognosis in patients with distant metastasis (SNMM-M). Therefore, characterizing the molecular landscape of SNMM may provide novel therapeutic targets for SNMM-M.

Prenatal exposure to per- and polyfluoroalkyl substances: Association with child behavior in the environmental influences on child health outcomes (ECHO) Cohort.

Background: Prenatal exposure to per- and polyfluoroalkyl substances (PFAS) may adversely impact child neurodevelopment; however, epidemiologic findings remain inconclusive because of small sample sizes, limited exposure variability, and differing neurodevelopmental measures. We aimed to investigate the relationship between prenatal PFAS exposure and child behavior.

Methods: We pooled data from nine study sites in the nationwide Environmental influences on Child Health Outcomes (ECHO) Cohort.

A comparative study of patient and provider priorities for cesarean delivery anesthesia care.

Introduction: Patient priorities for anesthesia during a cesarean delivery are not well defined. Previous studies have explored patient preferences for cesarean delivery anesthesia but have not evaluated patient-centered endpoints unrelated to the physical experience which are known to be important to patients' birth experiences, such as being treated with respect, communication, and emotional support. The purpose of this study was to compare patients' and providers' priorities for cesarean delivery anesthesia care.

FLAIR extending beyond a quadrant (FEQ) of the cerebrum as a qualitative imaging biomarker: a conceptual proposition and proof-of-principle.

Significant variability exists in the use of corticosteroids for treating adverse radiation effects (ARE) after stereotactic radiosurgery (SRS) of brain metastasis (BM). Here, we determine the diagnostic utility of a quadrant-based, visual assessment of magnetic resonance (MR) FLAIR as an imaging biomarker for steroid-dependent ARE. FLAIR was assessed at four axial levels along the rostral-caudal axis of the cerebrum, defined by standard landmarks of superior temporal line, third ventricle, temporal horn, and fourth ventricle.

Psychotic-like experiences in adolescents enriched for high-risk for developing severe mental illness: change over two-years and associations with neural reward processing and affective symptoms.

Psychotic-like experiences (PLEs) -subclinical experiences or symptoms that resemble psychosis, such as hallucinations and delusional thoughts-often emerge during adolescence and are predictive of serious psychopathology. Understanding PLEs during adolescence is crucial due to co-occurring developmental changes in neural reward systems that heighten the risk for psychotic-related and affective psychopathology, especially in those with a family history of severe mental illness (SMI). We examined associations among PLEs, clinical symptoms, and neural reward function during this critical developmental period.

Wound Care Practices Among People Who Inject Drugs in Austin, Texas.

Background: People who inject drugs (PWID) may develop skin and soft tissue infections because of limited access to sterile injection supplies and education regarding safer injection techniques. The purpose of this study was to assess wound care experiences, knowledge, and practices among individuals accessing community-based services and inform service provision for PWID.

Methods: Using convenience sampling, participants of an organization that engages with PWID in Austin, Texas, were engaged in a multiphase mixed-methods study.

A Scoping Review of Respiratory Dysfunction in Inclusion Body Myositis.

Objectives: Inclusion body myositis (IBM) can result in deadly respiratory consequences. Yet, the mechanism driving this issue remains equivocal. We mapped the literature to identify physiological respiratory characteristics in IBM and the types of respiratory assessments used.

Advanced Glycation End-Product Carboxymethyl-Lysine and Incident Heart Failure and Atrial Fibrillation in Older Adults.

Background: Advanced glycation end-products result from chemical modification of proteins under conditions of hyperglycemia or oxidative stress common with advancing age. Advanced glycation end-product (AGE) formation alters vascular and cardiac structure and function, yet the prospective associations of circulating AGEs with heart failure (HF) and atrial fibrillation (AF) have not been studied.

Methods: We evaluated the associations of serum N-carboxymethyl-lysine (CML), a major AGE in tissue proteins, and incident HF and AF in the CHS (Cardiovascular Health Study), a population-based cohort of older adults.

Identifying Transportation Needs in Ophthalmology Clinic Notes Using Natural Language Processing: Retrospective, Cross-Sectional Study.

Background: Transportation insecurity is a known barrier to accessing eye care and is associated with poorer visual outcomes for patients. However, its mention is seldom captured in structured data fields in electronic health records, limiting efforts to identify and support affected patients. Free-text clinical documentation may more efficiently capture information on transportation-related challenges than structured data.

High transposable element expression in sarcomas is associated with increased immune infiltrates and improved outcomes including after immunotherapy.

Background: Response to immune checkpoint inhibition (ICI) in sarcomas is overall low and heterogeneous. Understanding determinants of ICI outcomes may improve efficacy and patient selection. Thus, we investigated whether the expression of transposable elements (TEs), which are epigenetically silenced and can stimulate antitumor immunity, influence ICI outcomes and immune infiltrates in common sarcoma subtypes.

Blue Light as an Anti-inflammatory and Analgesic Strategy in Thoracic Trauma (BLAASTT): protocol for a randomised controlled trial in adult trauma inpatients with painful rib fractures.

Introduction: Blue light (peak wavelength 442 nm) has been shown to modulate the immune response in preclinical models of intra-abdominal sepsis and pneumonia. pathways involve optic nerve stimulation with transmission to the central nervous system, activation of parasympathetic pathways terminating at the spleen, and downstream immune effects including decreased inflammatory tissue damage and improved pathogen clearance. Related effects on pain mediators including proinflammatory cytokines (interleukin 6, TNF- α) and autonomic tone (increased parasympathetic outflow) suggest possible analgesic properties that would be highly relevant to a trauma population.

Small Ruptured Anterior Communicating Artery Aneurysms in the Endovascular Right-of-First-Refusal Era: Intraprocedural Rupture Risk and Retreatment at Follow-up.

Background: Ruptured small anterior communicating artery (ACoA) aneurysms can pose a technical challenge for endovascular therapy. We sought to explore treatment and follow-up results in the modern endovascular right of first refusal era.

Methods: Smaller (≤ 7mm) ruptured aneurysms of the ACoA undergoing treatment were compared with non-ACoA counterparts, and further dichotomized by size (≤3mm and 3-7mm).

Editorial Commentary: Arthroscopic Free Bone Blocks with Alternative Fixation is Likely the Wave of the Future but Further Research is Necessary Before Widespread Adoption.

Recurrent anterior instability with glenoid bone loss is a difficult problem with several surgical options. The Latarjet technique remains the gold standard for glenoid bone reconstruction in the setting of critical glenoid bone loss with excellent long-term outcomes. However, this technique has well known downsides including high rates of complications.

Improving prognostic models of six-month clinical outcomes after severe traumatic brain injury with daily inpatient biomarkers: A Bayesian modelling approach.

Background: A key limitation of the IMPACT model for prognostication after severe traumatic brain injury (TBI) is the use of predictors from hospital admission only. We sought to identify if including daily blood labs (e.g.

Bidirectional and asymmetric smooth pursuit deficits in childhood hemispherectomy patients.

The neural circuitry engaged in supporting eye movements has been well characterized, but fundamental questions remain about the necessity and sufficiency of the individual hemispheric contributions. To gain a better understanding of the neural correlates of oculomotor control, we measured horizontal smooth pursuit tracking behavior in 14 patients following childhood hemispherectomy. Relative to developmentally typical age-matched controls, patients exhibited a bilateral and asymmetric pursuit deficit with reduced ipsilesional but elevated contralesional eye speeds, and asymmetric accompanying 'catch up' saccades.