Segmental MRI pituitary and hypothalamus volumes post Fontan: An analysis of the Australian and New Zealand Fontan registry.

Objective: Short stature, central hypothyroidism and infertility are common in those with a Fontan circulation. Given that the Fontan circulation often results in hepatic portal venous congestion, we hypothesize that the hypothalamic-pituitary portal circulation is also affected, contributing to subsequent hypothalamic-pituitary axis dysfunction.

Methods: MRI data from the Australian and New Zealand Fontan Registry (86 cases) was compared to 86 age- and sex-matched normal published controls.

Disparities in kidney care in vulnerable populations: A multinational study from the ISN-GKHA.

Vulnerable populations, such as the elderly, children, displaced people, and refugees, often encounter challenges in accessing healthcare. In this study, we used data from the third iteration of the International Society of Nephrology Global Kidney Health Atlas (ISN-GKHA) to describe kidney care access and delivery to vulnerable populations across countries and regions. Using data from an international survey of clinicians, policymakers, and patient advocates, we assessed the funding and coverage of vulnerable populations on all aspects of kidney replacement therapies (KRT).

Peritoneal Dialysis Catheter Placement on the Right Side of the Falciform Ligament to Prevent Obstruction by the Omentum.

We describe a simple and reproducible technique for neonatal peritoneal dialysis catheter insertion following cardiac surgery which prevents the catheter from becoming blocked by the omentum.

Transcatheter Aortic Valve Replacement Explant in the Setting of a Porcelain Aorta.

Porcelain aorta describes circumferential calcification in the ascending aorta that may extend through the aortic arch. This is commonly observed in patients with a history of mediastinal radiation, end-stage renal disease, or chronic vascular inflammation. Mediastinal radiation has been shown to cause intimal and medial calcification of the aorta, as well as diastolic myocardial dysfunction, valvular disease, and coronary artery disease.

Goodnight Moon: The (not so) mystical effect of folklore and superstitions on cardiac transplantation.

Background: The effect of Friday the 13th and Full Moons on cardiac transplantation is unknown. We investigated the impact of these superstitious events on recipient and donor qualities, complications, survival, and volume.

Methods: All adult transplants from 2013-2023 in the United Network for Organ Sharing database were retrospectively reviewed.

Evaluation of Analgesic Efficacy of Dexmedetomidine as an Adjuvant to Local Anaesthesia in Maxillofacial Soft Tissue Injuries: A Prospective Randomised Clinical Trial.

Aims And Objectives: Dexmedetomidine is a relatively new, potent, and highly selective α2-adrenergic receptor agonist used for perioperative sympatholytic, analgesia, and sedation. We conducted this study to evaluate the effects of dexmedetomidine as an adjunct to local anaesthesia for maxillofacial soft tissue injuries as day care in the emergency department on patient hemodynamics and analgesic efficacy.

Materials And Methods: Eighty patients gave informed consent to participate in the study.

Outcomes after hospital discharge in children requiring post-cardiotomy extracorporeal membrane oxygenation: A binational retrospective cohort study.

Objectives: To describe longer-term survival and morbidity outcomes after hospital discharge in a binational cohort of children who required extracorporeal membrane oxygenation after cardiac surgery.

Methods: This was a retrospective cohort study from the Australia and New Zealand Congenital Outcomes Registry for Surgery database. All patients younger than 18 years of age (n = 12,290) undergoing pediatric cardiac surgical procedures between January 1, 2013, and December 31, 2021, who required post-cardiotomy extracorporeal membrane oxygenation in the same admission were included.

Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.

Variation in the non-coding genome represents an understudied mechanism of disease and it remains challenging to predict if single nucleotide variants, small insertions and deletions, or structural variants in non-coding genomic regions will be detrimental. Our approach using complementary RNA-seq and targeted long-read DNA sequencing can prioritize identification of non-coding variants that lead to disease via alteration of gene splicing or expression. We have identified a patient with primary ciliary dyskinesia with a pathogenic coding variant on one allele of the SPAG1 gene, while the second allele appears normal by whole exome sequencing despite an autosomal recessive inheritance pattern.

Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation.

Background: Ascending thoracic aortic dilation is a complex heritable trait that involves modifiable and nonmodifiable risk factors. Polygenic scores (PGS) are increasingly used to assess risk for complex diseases. The degree to which a PGS can improve aortic diameter prediction in diverse populations is unknown.

International equity in access to home dialysis.

Purpose Of Review: Discussion of inequalities and inequities in global distribution of and access to home dialysis.

Recent Findings: The majority of patients receiving home dialysis receive peritoneal dialysis, but these are concentrated in few countries across the globe. Peritoneal dialysis as the most common form of home dialysis has many advantages in terms of individual freedoms, similar outcomes to haemodialysis, being less costly in some countries, and more scalable than in-centre haemodialysis.

Glial expression of Drosophila UBE3A causes spontaneous seizures that can be modulated by 5-HT signaling.

Misexpression of the E3 ubiquitin ligase gene UBE3A is thought to contribute to a range of neurological disorders. In the context of Dup15q syndrome, additional genomic copies of UBE3A give rise to the autism, muscle hypotonia and spontaneous seizures characteristics of the disorder. In a Drosophila model of Dup 15q syndrome, it was recently shown that glial-driven expression of the UBE3A ortholog dube3a led to a "bang-sensitive" phenotype, where mechanical shock triggers convulsions, suggesting glial dube3a expression contributes to hyperexcitability in flies.

Outcomes and quality of life in patients receiving durable left ventricular assist device with biventricular support.

Background: Patients requiring biventricular support (BIVAD) face higher morbidity than those undergoing durable left ventricular assist device (LVAD) implantation alone. The goal of the current study was to evaluate quality of life (QOL) of patients with LVAD therapy in the modern era, stratified by use of biventricular support.

Methods: All patients undergoing LVAD at our center were reviewed between October 2017 and September 2021.

Structured training initiative (STI) for caregivers of children on peritoneal dialysis: a prospective study of the impact on the rate of peritonitis.

Background: Training caregivers performing PD is an important measure to prevent peritonitis. A low literacy rate hinders training in low-resource settings. We designed a structured training initiative (STI) and objective structured assessment (OSA) using visual and kinesthetic resources with minimal use of written resources.

Vasohibin inhibition improves myocardial relaxation in a rat model of heart failure with preserved ejection fraction.

Heart failure with preserved ejection fraction (HFpEF) is a complex syndrome associated with increased myocardial stiffness and cardiac filling abnormalities. Prior studies implicated increased α-tubulin detyrosination, which is catalyzed by the vasohibin enzymes, as a contributor to increased stabilization of the cardiomyocyte microtubule network (MTN) and stiffness in failing human hearts. We explored whether increased MTN detyrosination contributed to impaired diastolic function in the ZSF1 obese rat model of HFpEF and designed a small-molecule vasohibin inhibitor to ablate MTN detyrosination in vivo.

DNA typing of cyanoacrylate fumed latent fingerprints using GlobalFiler™ and ForenSeq™ Signature Prep kits.

DNA typing of latent fingerprints is highly desirable to increase chances of individualization. We recovered DNA from Cyanoacrylate (CA) fumed fingerprints and used both GlobalFiler™ and ForenSeq™ DNA Signature Prep kits for DNA typing. For GlobalFiler™, samples were processed using a protocol modified for Low Template (LT)-DNA samples (half-volume reactions, 30 cycles) while for ForenSeq™ DNA Signature Prep, samples were processed using a standard protocol and fluorometer-based library quantitation.

Wellbeing in Children and Adolescents with Fontan Physiology.

Objective: To assess health-related quality of life (HRQOL) and global quality of life (QOL) in children and adolescents with Fontan physiology and identify key predictors influencing these outcomes.

Study Design: Cross-sectional analysis of 73 children and adolescents enrolled in the Australia and New Zealand Fontan Registry aged 6-17 years, at least 12 months post-Fontan operation. Assessments included the Pediatric Quality of Life Inventory (PedsQL) for HRQOL and a developmentally-tailored visual analogue scale (0-10) for global QOL, along with validated sociodemographic, clinical, psychological, relational, and parental measures.

Warfare Nerve Agents and Paraoxonase-1 as a Potential Prophylactic Therapy against Intoxication.

Nerve agents are a class of lethal neurotoxic chemicals used in chemical warfare. In this review, we have discussed a brief history of chemical warfare, followed by an exploration of the historical context surrounding nerve agents. The article explores the classification of these agents, their contemporary uses, their toxicity mechanisms, and the disadvantages of the current treatment options for nerve agent poisoning.

Outcomes and quality of life in patients receiving mitral surgery for asymptomatic disease.

Objectives: We sought to characterize the demographics, outcomes, and quality of life of asymptomatic patients undergoing mitral valve surgery at our center over a 10-year period.

Methods: Adults undergoing mitral surgery were retrospectively reviewed between 2010 and 2019. Patients were included if deemed asymptomatic by review of referring cardiologist and surgeon consultation.

Assessment of Dietary Acid Load in Children with Chronic Kidney Disease: An Observational Study.

Introduction: Dietary acid load (DAL), which reflects the balance between acid- and alkaline-forming foods, is a modifiable risk factor for metabolic acidosis in CKD. Owing to the paucity of data in the Indian context, we undertook this cross-sectional study to estimate DAL and assess acid and alkaline food consumption in children with CKD2-5D (Chronic kidney disease stage 2 to 5 and 5D-those on hemodialysis).

Methods: Clinical profile, dietary assessment of energy, protein intake/deficits, and macronutrients were noted and computed using software created by the division of nutrition, St John's research institute based on Kidney Disease Outcomes Quality Initiative (KDOQI) guidelines in clinically stable children with CKD2-5D.