Clinical Manifestations and Treatment Responses in Pediatric Neurofascin 155-IgG4 Autoimmune Nodopathy.

Background And Objectives: While it is well characterized in adults, little is known about the clinical features of neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN) in the pediatric population. In this study, we aimed to describe the clinical features and treatment outcomes in children diagnosed with neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN).

Methods: Pediatric and adult patients with NF155-IgG4 AN were identified retrospectively through the Mayo Clinic Neuroimmunology Laboratory database.

Effectiveness of oral vancomycin as prophylaxis against infection in hematopoietic stem cell transplant patients.

Objective: Patients receiving hematopoietic stem cell transplants (HSCT) are at increased risk for infection (CDI). The purpose of this study was to assess the effectiveness of oral vancomycin prophylaxis (OVP) for CDI in HSCT patients.

Design: Single-center, retrospective cohort.

Distinguishing Chronic Inflammatory Demyelinating Polyneuropathy From Mimic Disorders: The Role of Statistical Modeling.

Background And Aims: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is difficult to distinguish from mimicking disorders, with misdiagnosis resulting in IVIG overutilization. We evaluate a clinical-electrophysiological model to facilitate CIDP versus mimic neuropathy prediction.

Methods: Using the European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) 2021 CIDP guidelines we derived 26 clinical and 144 nerve conduction variables.

Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes.

Gene expression quantitative trait loci are widely used to infer relationships between genes and central nervous system (CNS) phenotypes; however, the effect of brain disease on these inferences is unclear. Using 2,348,438 single-nuclei profiles from 391 disease-case and control brains, we report 13,939 genes whose expression correlated with genetic variation, of which 16.7-40.

What I Wish I Had Known: Examining Parent Accounts of Managing the Health of Their Child With Intellectual Disability.

Background: Appropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs.

Aim: This study focuses on parents' experiences and learnings from managing and supporting the health of their child with intellectual disability.

The Influence of Genetic Polymorphisms in Cytochrome P450 (CYP1A1 and 2D6) Gene on the Susceptibility to Philadelphia Negative Chronic Myeloid Leukemia in Sudanese Patients.

The most frequent type of leukemia in Africa is chronic myeloid leukemia (CML). The genetic background of the rarer Philadelphia chromosome (Ph) Ph-ve (BCR-ABL-ve) subform of CML is largely unknown in African patients. Therefore, in this study, we aimed to investigate the role of CYP1A1 and 2D6 SNPs in the pathogenesis of Ph-ve CML in the Sudanese population.

Impact of Social Determinants of Health on Primary Adherence of Oral Anticoagulants Among Patients with Newly Diagnosed Atrial Fibrillation.

Introduction: Oral anticoagulants (OAC) reduce the risk of stroke among patients with atrial fibrillation (AF). However, adherence remains suboptimal. We focused on primary nonadherence to OAC and its associations with patient characteristics-specifically social determinants of health collected in electronic health records (EHR).

Using the Theory of Planned Behavior to predict information- and support-seeking on Facebook in people with endometriosis.

Background: Many people with endometriosis want to learn more about their condition and connect with others for support. Frequently they turn to social media site Facebook to do so. This study aimed to explore the drivers of endometriosis consumers' intentions and use of Facebook for health-related information and support, as outlined in the Theory of Planned Behavior (TPB).

Electronically Monitored Antidepressant Adherence in Adolescents with Anxiety Disorders: A Pilot Study.

Antidepressant medication adherence patterns are inconsistent in adolescents with anxiety and related disorders, and the clinical and demographic features predicting adherence are poorly understood. In an ongoing single-site prospective trial involving adolescents (aged 12-17) with the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition anxiety disorders treated with escitalopram, adherence was measured for 12 weeks using electronic monitoring caps. Adherence patterns were examined using qualitative and unsupervised clustering approaches, and predictors of adherence were evaluated using logistic regression, with demographic (age, sex, and race) and clinical variables (e.

Autoimmune brainstem encephalitis: Clinical associations, outcomes, and proposed diagnostic criteria.

Objective: We describe neurologic phenotype, clinical associations, and outcomes in autoimmune brainstem encephalitis.

Methods: Medical records of neural-IgG positive autoimmune brainstem encephalitis patients diagnosed at Mayo Clinic (January 1, 2006-December 31, 2022) were reviewed.

Results: Ninety-eight patients (57 male) were included.

Development of a new Peyronie's disease self-assessment screening app.

Peyronie's disease (PD) is an underdiagnosed and undertreated fibroproliferative disorder associated with the formation of plaques that results in penile curvature and discourages some men from seeking medical consultation. The PD self-assessment app, a digital application (app), was developed to increase PD awareness, provide men with a self-screening and educational tool for PD, and help eliminate barriers to seeking consultation with a physician. Prior to deployment, 4 board-certified urologists provided qualitative reviews on the app's usability and utility as a screening tool.

Disseminated histoplasmosis with oral involvement and co-infection with Pneumocystis in a patient with HIV: A case report.

Oral manifestations of disseminated histoplasmosis are rare but can present in immunocompromised individuals. We report a case of disseminated Histoplasmosis presenting with presumed oral involvement and pneumonia in a seropositive HIV individual. A 32-year-old male with HIV presented to the emergency department for a two-week history of abdominal pain and a tongue ulcer in the setting of significant weight loss, blood-tinged sputum, and non-adherence with antiretroviral therapy for three years.

Treatment of patellar luxation with polyethylene sulcal ridge prostheses in 44 feline stifles: a retrospective study.

Objectives: The aim of this study was to assess the complication rates and long-term outcomes, as well as to refine case selection criteria for cats undergoing trochlear ridge augmentation (TRA) using an ultra-high molecular weight polyethylene implant (UHMWPEI) for the treatment of patellar luxation (PL).

Methods: The clinical records from two referral veterinary hospitals were searched for cases that fitted defined inclusion criteria. A short-term assessment was based on examination and radiography at 8 weeks postoperatively.

Advanced Wound, Ischemia, and foot Infection stage is associated with poor outcomes in the BEST-CLI trial.

Objective: Wound, Ischemia, and foot Infection (WIfI) staging was established to provide objective classification in patients with chronic limb-threatening ischemia (CLTI) and to predict 1-year major amputation risk. Our goal was to validate WIfI staging using data from the Best Endovascular vs Best Surgical Therapy in Patients with CLTI (BEST-CLI) trial.

Methods: Data from the BEST-CLI Trial, a prospective randomized trial comparing surgical revascularization (OPEN) and endovascular revascularization (ENDO), were used to assess the association of WIfI stage on long-term outcomes in an intention-to-treat analysis.

Epigenetic aging of semen is associated with inflammation.

Male infertility has been a primary cause of global infertility, affecting 8-12% of couples worldwide. Previous studies have shown that semen quality decreases with advanced aging with an increased presence of inflammatory cells. In this study, we examined changes in the epigenome across a diverse cohort that includes both fertile and infertile men.

IFRD1 is required for maintenance of bladder epithelial homeostasis.

The maintenance of homeostasis and rapid regeneration of the urothelium following stress are critical for bladder function. Here, we identify a key role for IFRD1 in maintaining urothelial homeostasis in a mouse model. We demonstrate that the murine bladder expresses IFRD1 at homeostasis, particularly in the urothelium, and its loss alters the global transcriptome with significant accumulation of endolysosomes and dysregulated uroplakin expression pattern.

Genotyping and Characterizing to Reveal Genetic Diversity and Multiplicity of Infection by Merozoite Surface Proteins 1 and 2 ( and ) and Glutamate-Rich Protein () Genes.

Resistance to current antimalarial drugs is steadily increasing, and new drugs are required. Drug efficacy trials remain the gold standard to assess the effectiveness of a given drug. The World Health Organization (WHO)'s recommendation for the optimal duration of follow-up for assessing antimalarial efficacy is a minimum of 28 days.

An Outline of a Simple, Interpretable Epigenetic Composite Score for Mortality Prediction for Accelerated Underwriting.

Background.—: In principle, it is generally accepted that DNA methylation measures can be used to predict mortality. However, as of yet, no epigenetic metric has been successfully incorporated into underwriting procedures.

Phenotypic and oncological insights in ANNA1 autoimmunity: Age stratification and biomarker analysis.

Objective: To describe the phenotypes, oncological associations, biomarker profiles, and outcomes across different age groups in patients with ANNA1 (anti-Hu) autoimmunity.

Methods: A retrospective review of patients with ANNA1-IgG in serum/CSF between January 1, 2001, and December 31,2019 was performed. Patients were classified into three groups based on the age of symptom onset.

"No doctor ever asked me…so I thought it wasn't a valid concern": endometriosis patients' perspectives of barriers and facilitators to sexual health communication in general practice.

Background: Sexual health communication between general practitioners (GPs) and individuals with chronic diseases is well documented as an important component of sexual well-being. However, a notable gap exists in understanding factors that contribute to sexual health communication in the endometriosis context. Endometriosis-related research has focused on the assessment of sexual functioning and its role in influencing health-related quality of life, with a limited understanding of the management of sexual well-being in primary healthcare settings.