Direct assessment of airway microbiota in primary ciliary dyskinesia end-stage lung disease.

https://bit.ly/4eV5s0H.

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

RFC1-related disease, which includes cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), is a late-onset neurodegenerative disorder primarily caused by biallelic AAGGG repeat expansions (RE) in RFC1. The RFC1 locus is highly polymorphic, with multiple pathogenic and non-pathogenic repeat motifs identified. This study aimed to characterise the structure of the RFC1 repeat and determine the pathogenic allele frequency in an Australian cohort.

Pre-operative fasting in a cohort of patients undergoing surgery for fractured neck of femur - a retrospective cross-sectional study.

Despite strong evidence indicating detrimental impacts, surgical patients often experience prolonged peri-operative fasting. The aim of this retrospective cross-sectional study was to assess duration of pre-operative fasting in a cohort of acute inpatients undergoing surgery for fractured neck of femur within a large tertiary referral hospital in Sydney, Australia; and to compare fasting times with recommended pre-operative fasting guidelines. Patients that underwent surgery for fractured neck of femur between February and September 2023 were retrospectively assessed for the length of pre-operative fasting.

Diagnostic Evaluation and Management of Idiopathic Chylous Ascites: A Report of a Surgical Case.

Chylous ascites (CA) is the pathological accumulation of lymphatic fluid in the peritoneal cavity. The ascitic fluid has a high concentration of triglycerides and chylomicrons, giving it a milky appearance. Owing to its infrequent diagnosis, there is limited literature describing the workup and treatment of idiopathic chylous ascites (ICA).

Adjustment to a temporary compared to a permanent ostomy: A qualitative analysis of survey responses.

Aims: To describe differences and similarities in adaptation or adjustment to a new temporary compared to a new permanent ostomy.

Background: Few studies have assessed differences in adjustment between temporary and permanent ostomies. This is important as some evidence suggests that individuals with a temporary ostomy defer returning to pre-ostomy life until the ostomy is reversed, while those with a permanent ostomy adjust more quickly.

The Aldosterone Blockade for Health Improvement Evaluation in End-Stage Renal Disease (ACHIEVE) Trial: Rationale and Clinical Research Protocol.

Background: The mineralocorticoid aldosterone may contribute to the risk of cardiovascular morbidity and mortality in patients receiving maintenance dialysis. Whether spironolactone, a mineralocorticoid receptor antagonist, improves outcomes for patients receiving maintenance dialysis is unclear.

Objective: To assess the efficacy and safety of spironolactone in patients receiving maintenance dialysis.

Lidocaine for Neuropathic Cancer Pain (LiCPain): A Pilot Randomized Controlled Trial.

Context: Extended continuous subcutaneous infusion of lidocaine for neuropathic cancer pain is currently used in clinical practice.

Objective: To determine the feasibility of conducting an adequately powered, multisite, double-blind, parallel group, titrated dose, randomized controlled trial of continuous subcutaneous infusion of lidocaine versus placebo in palliative care patients with neuropathic cancer pain.

Methods: Adults with neuropathic cancer pain were randomized to receive lidocaine hydrochloride 10%w/v (3000 mg/30 mL) diluted in sodium chloride 0.

INTEGRATE pooled phase 2/3 results are robust to postprogression switching and the winner's curse.

Background: The INTEGRATE phase 3 trial in advanced gastric and esophagogastric junction cancer involved pooling overall survival data with its preceding phase 2 trial, raising concerns about misalignment due to treatment switching in phase 2, or the "winner's curse." We evaluated phase 2 results, adjusted for these opposing effects, against phase 3 according to the prespecified statistical analysis plan.

Methods: Overall survival estimates were adjusted for treatment switching using the rank-preserving structural failure time model (RPSFTM) and inverse probability of censoring weights (IPCW) method.

Human LY9 governs CD4 T cell IFN-γ immunity to .

CD4 T cells are indispensable for optimal immunity to (), a pathogen that triggers tuberculosis (TB) in humans. -specific human CD4 T cells are known to polarize toward an interferon-γ (IFN-γ)-producing, CCR4CCR6CXCR3T-betRORγT T helper 1* cell (T1*cell) memory phenotype. We report that autosomal recessive deficiency of the human lymphocytic surface receptor LY9 (SLAMF3 and CD229), which is found in less than 10 individuals in the general population, underlies TB in three unrelated patients due to selective impairment in IFN-γ production by T1* cells.

Functional Coronary Angiography for the Diagnosis of Coronary Vasomotor Disorders.

Microvascular and/or vasospastic angina are two common forms of coronary vasomotor disorders that may occur in patients with ischaemia and non-obstructed coronary arteries (INOCA) or myocardial infarction with non-obstructive coronary arteries (MINOCA). Functional coronary angiography involves invasive guidewire-based assessment of the coronary circulation using pharmacological vasoactive agents to assess small and large vasomotor dysfunction. Typically, responses to adenosine (microvascular vasodilator) and acetylcholine (large and small vessel vasospastic agent) are sequentially assessed.

Recruitment Feasibility of Patients with Peripheral Arterial Disease for a Multidisciplinary Intervention: Findings from the TEAM-PAD Trial.

Background: Peripheral arterial disease (PAD) is a chronic progressive vascular condition with high morbidity and mortality, often necessitating comprehensive management to mitigate cardiovascular risk. This study assessed the feasibility of recruiting patients with PAD for a multidisciplinary team (MDT)-based care intervention, comparing its effectiveness to standard care within a clinical trial setting.

Methods: This study was conducted as a cross-sectional analysis nested within the ongoing TEAM-PAD trial and targeted the recruitment of 30 patients within 12 weeks and evaluated recruitment, consent, and retention rates to assess feasibility.

Barriers to clinical genetic testing in movement disorders.

Purpose Of Review: The number of known genetic movement disorders and potential treatments for these disorders have grown rapidly over the last few decades. Despite this, genetic testing for movement disorders remains relatively underutilized in clinical practice. In this review, we explore a number of barriers that prevent more routine and widespread use of genetic testing for movement disorders.

Seronegative spondyloarthritis as a complication of anti-CD20 monoclonal antibody treatment in multiple sclerosis.

Background: Anti-CD20 monoclonal antibodies (mAbs) have rarely been associated with seronegative spondyloarthritis (SpA). We report nine cases of de novo SpA occurring in the context of anti-CD20 mAb treatment for multiple sclerosis (MS).

Methods: Records at two MS referral centres were reviewed to identify patients who developed symptoms of and were formally diagnosed with SpA after starting ofatumumab or ocrelizumab between January 2021 and September 2024.

Long-read sequencing for diagnosis of genetic myopathies.

Genetic myopathies are caused by pathogenic variants in >300 genes across the nuclear and mitochondrial genomes. Although short-read next-generation sequencing (NGS) has revolutionised the diagnosis of genetic disorders, large and/or complex genetic variants, which are over-represented in the genetic myopathies, are not well characterised using this approach. Long-read sequencing (LRS) is a newer genetic testing technology that overcomes many of the limitations of NGS.

Changing the paradigm of long-term blood pressure control: a systematic review of novel therapies.

Novel drug and device therapies have the potential to achieve long-term control of blood pressure (BP) and thereby overcome the barriers of nonadherence and undertreatment. We propose that ideal BP lowering therapy should meet six key criteria: (i) achieve a clinically relevant BP reduction; (ii) durable BP reduction; (iii) be well tolerated; (iv) have the ability to be safely combined with other BP lowering treatments; (v) have high patient acceptability and (vi) be cost-effective and simple to use to maximize scalability. In this paper, we systematically review emerging solutions for long-term control of BP including antibody-based therapies, sRNA therapies, and DNA-based gene editing which target the renin angiotensin system, and implant therapies, and interventional approaches (renal denervation and baroreceptor activation therapies).

Trends in use of sodium-glucose cotransporter 2 inhibitors among people with type 2 diabetes following hospitalisation with heart failure: A population-based study.

Aims: Sodium-glucose cotransporter 2 inhibitors (SGLT2i) are a pillar of therapy among people with both type 2 diabetes (T2D) and heart failure (HF). Despite being a population at high-risk of cardio-renal events, little is known on SGLT2i uptake following hospitalisation, a key opportunity for prescribing.

Methods: Using linked administrative data, we identified adults with T2D hospitalised with HF from January 2014 to June 2021, New South Wales, Australia.

Moving from theory to practice: implementing a prehabilitation program before gastrointestinal cancer surgery (PREHAB-GI).

Purpose: Surgery remains the primary treatment for early-stage colorectal and upper gastrointestinal (UGI) cancers. However, it can lead to postoperative complications and reduced functionality. Prehabilitation aims to improve functional reserves before surgery.

Update of data from the world apheresis association (WAA) registry.

The WAA registry has been active since 2002. It allows bed side registration of safety and efficacy data. The data each center enters is accessible for its own use but also used for merged analysis.

Clinical characteristics of mental health presentations of children and young adults to the emergency department during the COVID-19 pandemic in Sydney, Australia.

Objectives: Recent studies have demonstrated the prevalence of children and young adults with mental health (MH)-related problems presenting to EDs is increasing in Australia and overseas. The present study aimed to examine clinical characteristics and contributing factors in relation to MH ED presentations of children and young adults, aged 10-24 years, before and after the long Sydney COVID-19 lockdown period in 2021.

Methods: This was a retrospective chart review of electronic medical records (eMR) of MH presentations to three metropolitan EDs during January to April 2021 (phase 1) and October to December 2021 (phase 2).

Diagnostic work up when suspecting early onset Parkinson disease (EOPD). Recommendations from the MDS EOPD study group.

Introduction: Early onset Parkinson's disease (EOPD) has been defined as PD with onset of motor symptoms after age 21 but before age 50. While diagnostic criteria are clear, data suggest that clinicians are still uncomfortable making the diagnosis, resulting in multiple investigations and delays in diagnosis and initiation of treatment.

Methods: Following the Delphi process, the 15 members of the steering committee of the EOPD study group of the International Parkinson Disease and Movement Disorder Society (MDS) designed and completed a 10 binary or multiple-choice questions survey then met to establish recommendations regarding which investigations are needed for the diagnosis of EOPD.

miR-27b-3p modulates liver sinusoidal endothelium dedifferentiation in chronic liver disease.

Background: During chronic liver diseases, LSECs undergo a dedifferentiation process contributing to the development of hepatic microvascular dysfunction. Although microRNAs (miRNAs) have been associated with chronic liver disease, their role as modulators of liver endothelial phenotype is mostly unknown. Therefore, the aim of this study was to analyze miRNAs as regulators of hepatic sinusoidal endothelial dysfunction in chronic liver disease to suggest novel and translatable therapeutic options for cirrhosis.

Aligning kidney function assessment in patients with cancer to global practices in internal medicine.

Unlabelled: The kidney disease: Improving Global Outcomes (KDIGO) guideline recommends assessing kidney function using glomerular filtration rate (GFR) either through direct measurement or through estimation (eGFR) and describes a standardised classification of reduced kidney function. KDIGO guidelines have been adopted by most internal medicine specialities for the assessment and classification of kidney function, but not by cancer medicine. The development of the International Consensus Guideline on Anticancer Drug Dosing in Kidney Dysfunction (ADDIKD) aims to overcome the perceived challenges with KDIGO recommendations by describing their utility in patients with cancer.

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Background: Parkinson's disease (PD) is a genetically complex neurodegenerative disorder. Up to 15% of cases are considered monogenic. However, research on monogenic PD has largely focused on populations of European ancestry, leaving gaps in our understanding of genetic variability in other populations.