The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes in Rare Disease: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy.

Objectives: For individuals living with rare neurodevelopmental disorders, especially those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. Personalized endpoints such as Goal Attainment Scaling (GAS) allow the assessment of treatment response across variable baseline states and disease manifestations and thus provide a highly sensitive measure of efficacy. The current study tested the feasibility of using GAS in rare SCN2A-associated developmental and epileptic encephalopathy (SCN2A-DEE).

Feasibility of Distal Radial Access in High Bleeding Risk Patients Who Underwent Percutaneous Coronary Intervention.

Backgrounds And Objectives: The distal radial access (DRA), a potential alternative to the trans-radial approach (TRA), may offer advantages in terms of access site complications due to its smaller vessel diameter, especially for high bleeding risk (HBR) patients. This study aims to investigate the feasibility of DRA in HBR patients.

Methods: Based on data from the KODRA registry, a prospective, multicenter cohort, this study analyzed 1,586 patients who underwent successful percutaneous coronary intervention (PCI) via DRA.

Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi007-A) from a patient with Kennedy disease.

Abnormal trinucleotide CAG repeat expansions in exon 1 of the Androgen Receptor (AR) gene has been identified as the cause of Kennedy disease (KD). We generated and characterized a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) of a patient with genetically confirmed KD. The pluripotency of these iPSCs was verified by the expression of several pluripotency markers at both RNA and protein levels, as well as their capability to differentiate into all three germ layers.

Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome.

Background: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal UBE3A gene, is marked by changes in the brain's white matter (WM). The extent of WM abnormalities seems to correlate with the severity of clinical symptoms, but these deficits are still poorly characterized or understood. This study provides the first large-scale measurement of WM volume reduction in children with AS.

STUDY OF ORAL HEALTH AND SUPPORTIVE STRUCTURES FOR PROSTHETIC RESTORATIONS IN METHADONE MAINTENANCE THERAPY BENEFICIARIES AND DRUG USERS.

Introduction: Methadone Maintenance Therapy (MMT) is commonly used to treat opioid addiction but can cause significant oral health issues, including poor oral hygiene, dental caries, periodontal disease, and bone resorption. These issues can negatively impact on overall quality of life, leading to both aesthetic and functional concerns.

Aim Of The Study: This research compares the oral health of individuals in methadone maintenance treatment (MMT) with those starting MMT.

Impact of Nonmedical Switches From Reference Infliximab to Biosimilars on Disease Control Within a Rheumatology Practice.

Infliximab is an anti-tumor necrosis factor agent used to treat rheumatologic disease. Evidence on the safety of switching to biosimilars and the associated risk factors for flares/loss of disease control within rheumatology is limited. The primary objective is to evaluate nonmedical switches from reference infliximab to biosimilars in rheumatology on risks and level of disease control.

Glial-immune interactions in barrier organs.

Neuro-immune interactions within barrier organs, such as lung, gut, and skin, are crucial in regulating tissue homeostasis, inflammatory responses, and host defence. Our rapidly advancing understanding of peripheral neuroimmunology is transforming the field of barrier tissue immunology, offering a fresh perspective for developing therapies for complex chronic inflammatory disorders affecting barrier organs. However, most studies have primarily examined interactions between the peripheral nervous system and the immune system from a neuron-focused perspective, while glial cells, the nonneuronal cells of the nervous system, have received less attention.

International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.

Introduction: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.

Methods: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted.

Blood-brain barrier breakdown in brain ischemia: Insights from MRI perfusion imaging.

Brain ischemia is a major cause of neurological dysfunction and mortality worldwide. It occurs not only acutely, such as in acute ischemic stroke (AIS), but also in chronic conditions like cerebral small vessel disease (cSVD). Any other conditions resulting in brain hypoperfusion can also lead to ischemia.

Molecular basis for plasma membrane recruitment of PI4KA by EFR3.

The lipid kinase phosphatidylinositol 4 kinase III α (PI4KIIIα/PI4KA) is a master regulator of the lipid composition and asymmetry of the plasma membrane. PI4KA exists primarily in a heterotrimeric complex with its regulatory proteins TTC7 and FAM126. Fundamental to PI4KA activity is its targeted recruitment to the plasma membrane by the lipidated proteins EFR3A and EFR3B.

Patient perceptions of barriers to effective migraine management in Aotearoa New Zealand.

Introduction Migraine is a complex neurological condition which requires evidence based treatment, tailored to the individual. International evidence shows that treatment is often sub-optimal, but the experience of people with migraine in NZ is unknown. Aim This study aimed to describe the barriers people with migraine disease face when seeking care for their condition in Aotearoa New Zealand (NZ).

Validation of administrative health data for the identification of endometriosis diagnosis.

Study Question: How do endometriosis diagnoses and subtypes reported in administrative health data compare with surgically confirmed disease?

Summary Answer: For endometriosis diagnosis, we observed substantial agreement and high sensitivity and specificity between administrative health data-International Classification of Diseases (ICD) 9 codes-and surgically confirmed diagnoses among participants who underwent gynecologic laparoscopy or laparotomy.

What Is Known Already: Several studies have assessed the validity of self-reported endometriosis in comparison to medical record reporting, finding strong confirmation. We previously reported high inter- and intra-surgeon agreement for endometriosis diagnosis in the Endometriosis, Natural History, Diagnosis, and Outcomes (ENDO) Study.

The Ross procedure for recurrently failed aortic valve procedures.

The Ross procedure provides young patients with unrepairable aortic valve disease with a living pulmonary autograft that confers significant survival benefit and improved quality of life. However, the procedure is complicated, and surgeons can be reluctant to offer it as a solution, especially in complex re-operative scenarios. We present a young patient with symptomatic, severe aortic insufficiency who had undergone two failed aortic valve procedures for congenital bicuspid aortic valve disease within the prior year.

Diaci v3.0: chromosome-level assembly, de novo transcriptome, and manual annotation of Diaphorina citri, insect vector of Huanglongbing.

Background: Diaphorina citri is an insect vector of "Candidatus Liberibacter asiaticus" (CLas), the gram-negative bacterial pathogen associated with citrus greening disease. Control measures rely on pesticides with negative impacts on the environment, natural ecosystems, and human and animal health. In contrast, gene-targeting methods have the potential to specifically target the vector species and/or reduce pathogen transmission.

Placental Pathology and Blood Pressure at Age 7: A Longitudinal Discordant Twin Analysis.

Background: Evidence suggests that the intrauterine environment shapes offspring cardiovascular disease risk. Although placental dysfunction may be an important pathophysiologic pathway, numerous parental and pregnancy characteristics that influence offspring blood pressure are strong confounders of the mechanistic role of the placenta in observational analyses of singletons. Therefore, we leverage twin- and sibling-based comparison designs to determine whether placental pathology is associated with offspring blood pressure at age 7 while mitigating major sources of confounding.

The Urgency Numeric Rating Scale: Psychometric Evaluation in Adults with Crohn's Disease.

Introduction: Bowel urgency has recently been recognized as a Crohn's disease (CD) symptom that substantially impacts patients' quality of life. The Urgency NRS is a single-item patient-reported outcome measure assessing bowel urgency severity in the past 24 h (0-10 scale). We aimed to evaluate the psychometric properties of the Urgency Numeric Rating Scale (NRS) in adults with moderately to severely active CD and to estimate thresholds for meaningful improvement and bowel urgency remission.

Management, outcomes and predictors of mortality of Cryptococcus infection in patients without HIV: a multicentre study in 46 hospitals from Australia and New Zealand.

Background: Limited data exist regarding outcomes of cryptococcosis in patients without HIV with few studies having compared outcomes of Cryptococcus gattii, versus C. neoformans, infection.

Methods: We conducted a retrospective study in 46 Australian and New Zealand hospitals to determine the outcomes of cryptococcosis in patients without HIV diagnosed between 2015 and 2019, and compared outcomes of C.

Association Between Patient-Reported Pain and Remission or Low Disease Activity in Patients with Rheumatoid Arthritis: Data from RA-BE-REAL Prospective Observational Study.

Introduction: We aim to assess the association of patient-reported pain and remission or low disease activity (LDA) at 3 months (M) in patients receiving baricitinib or other treatments in RA-BE-REAL.

Methods: RA-BE-REAL reports on patients with rheumatoid arthritis (RA) who were prescribed, for the first time, baricitinib (cohort A) or a tumour necrosis factor inhibitor (TNFi) (cohort B-TNFi) or any other mode of action (OMA) (cohort B-OMA). Pain was measured using the visual analogue scale (VAS) (0-100 mm) and clinically meaningful pain improvement thresholds of ≥ 30%, ≥ 50% and ≥ 70% from baseline to 3, 6, 12 and 24 M.

Cerebrospinal Fluid and Serum Neuron-Specific Enolase in Niemann-Pick Disease Type C1.

Niemann-Pick disease, type C1 (NPC1) is an ultra rare, autosomal recessive disorder characterized by impaired intracellular cholesterol trafficking. This study assessed neuron-specific enolase (NSE) as a biomarker for disease status and treatment response in individuals with NPC1. We also evaluated the concordance between serum and cerebrospinal fluid (CSF) NSE measurements.

Renal Disease in Cats and Dogs-Lessons Learned from Text-Mined Trends in Humans.

Chronic kidney disease (CKD) is characterised by progressive kidney damage and encompasses a broad range of renal pathologies and aetiologies. In humans, CKD is an increasing global health problem, in particular in the western world, while in cats and dogs, CKD is one of the leading causes of mortality and morbidity. Here, we aimed to develop an enhanced understanding of the knowledge base related to the pathophysiology of renal disease and CKD in cats and dogs.

CXCR2 immunomodulatory therapy protects against microstructural white matter injury and gait abnormalities but does not mitigate deficits of cognition in a preclinical model of cerebral palsy.

Minimizing central nervous system (CNS) injury from preterm birth depends upon understanding the critical pathways that underlie essential neurodevelopmental and CNS pathophysiology. Signaling by chemokine (C-X-C motif) ligand 1 (CXCL1) through its cognate receptor, CXCR2 [(C-X-C motif) receptor 2] is essential for neurodevelopment. Increased CXCR2 signaling, however, is implicated in a variety of uterine and neuropathologies, and their role in the CNS injury associated with perinatal brain injury is poorly defined.

Unwanted or negative treatment reactions in digital psychological interventions for adolescents with chronic pain.

Objective: Reports of pain clinical trials evaluating psychological treatments often lack sufficient details on the potential and actual harm resulting from intervention. We aimed to understand how frequent and intense treatment reactions, conceptualized as unwanted symptoms, were in three clinical trials of digital Cognitive Behavioral Therapy (CBT) for adolescents with: (1) chronic primary pain, (2) sickle cell disease, and (3) chronic pancreatitis. We also aimed to understand any differences by demographic and clinical variables.