Therapeutic Potential of Ketogenic Interventions for Autosomal-Dominant Polycystic Kidney Disease: A Systematic Review.

Background: Recent findings have highlighted that abnormal energy metabolism is a key feature of autosomal-dominant polycystic kidney disease (ADPKD). Emerging evidence suggests that nutritional ketosis could offer therapeutic benefits, including potentially slowing or even reversing disease progression. This systematic review aims to synthesise the literature on ketogenic interventions to evaluate the impact in ADPKD.

The Ideal Canine Companion: Re-Exploring Australian Perspectives on Ideal Characteristics for Companion Dogs.

Defining the ideal characteristics of canine companions is imperative to those seeking to improve human-dog relationships. Previous investigations into the preferred traits of companion dogs were conducted before substantial recent events, such as the rise of social media and the COVID-19 pandemic, which altered human lifestyles and potentially affected canine preferences and owner satisfaction. This study surveyed Australian adults ( = 337) online to assess these shifts.

Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease.

Purpose: In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the CAG repeat modify disease onset. These variants are undetectable during HD genetic testing, resulting in inaccurate diagnostic reporting of uninterrupted CAG repeat length. Inaccurate reporting of CAG repeat length results in misdiagnosis of individuals with alleles near diagnostic cut-offs.

Medical and social factors associated with prolonged length of stay for chronically ventilated children.

Objectives: This study seeks to determine the overall and post-intensive care unit (ICU) length of stay (LOS) for children with tracheostomies and chronic mechanical ventilation. We hypothesized that medical and social factors would be associated with prolonged LOS.

Study Design: This single-center retrospective review included children who were discharged after initiation of chronic ventilation via tracheostomy over an 8-year period (2015-2022).

The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort.

Purpose: To determine the frequency and clinical impact of loss-of-interruption (LOI) and duplication-of-interruption modifier variants of the HTT CAG and CCG repeat in a cohort of individuals with Huntington disease (HD).

Methods: We screened symptomatic HD participants from the UBC HD Biobank and 5 research sites for sequence variants. After variant identification, we examined the clinical impact and frequency in the reduced penetrance range.

STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.

STAC3 disorder, or Native American myopathy, is characterised by congenital myopathy, hypotonia, musculoskeletal and palatal anomalies, and susceptibility to malignant hyperthermia. A STAC3 c.851 G > C (p.

Applications of SGLT2 inhibitors beyond glycaemic control.

Sodium-glucose cotransporter 2 (SGLT2) inhibitors were initially developed for their glucose-lowering effects and have shown a modest glycaemic benefit in people with type 2 diabetes mellitus (T2DM). In the past decade, a series of large, robust clinical trials of these therapies have demonstrated striking beneficial effects for various care goals, transforming the chronic disease therapeutic landscape. Cardiovascular safety studies in people with T2DM demonstrated that SGLT2 inhibitors reduce cardiovascular death and hospitalization for heart failure.

Demand forecasting for platelet usage: From univariate time series to multivariable models.

Platelet products are both expensive and have very short shelf lives. As usage rates for platelets are highly variable, the effective management of platelet demand and supply is very important yet challenging. The primary goal of this paper is to present an efficient forecasting model for platelet demand at Canadian Blood Services (CBS).

Can lithium be used in the setting of clozapine commencement in patients with COVID-19 associated neutropenia: A case report.

COVID-19 infection may increase the likelihood of neutropenia in patients already on clozapine. In clozapine treated patients experiencing COVID-19 associated neutropenia, adjunct therapy with lithium can be considered.

Revisiting Intradialytic Parenteral Nutrition: How Can We Apply the Evidence in Clinical Practice?

Intradialytic parenteral nutrition (IDPN) remains a controversial nutrition support practice in hemodialysis. Multiple reviews and evidence-based clinical practice guidelines have been published in the past 20 years. Despite essentially looking at the same evidence, conclusions and recommendations vary significantly, leading to widespread uncertainty among clinicians on the value of and indications for IDPN.

Huntington disease-like 2: insight into neurodegeneration from an African disease.

Huntington disease (HD)-like 2 (HDL2) is a rare genetic disease caused by an expanded trinucleotide repeat in the JPH3 gene (encoding junctophilin 3) that shows remarkable clinical similarity to HD. To date, HDL2 has been reported only in patients with definite or probable African ancestry. A single haplotype background is shared by patients with HDL2 from different populations, supporting a common African origin for the expansion mutation.

The Association of Frailty and Malnutrition With Dietary Intake and Gastrointestinal Symptoms in People With Kidney Failure: 2-Year Prospective Study.

Background: Frailty and malnutrition are both associated with worsening morbidity and mortality and become more prevalent in the elderly and as kidney function declines. Anorexia and reduced oral intake are common features of both frailty and malnutrition. However, there are sparse data evaluating the impact of other gastrointestinal (GI) symptoms, such as taste changes, on rates of frailty and malnutrition in people with kidney failure.

Nutrition in Conservative Kidney Management: From Evidence to Practice.

Conservative kidney management (CKM) is a treatment option for kidney failure, particularly for the elderly and those with co-morbidities. Dietitians can play an important role in the provision of CKM by enhancing patients' quality of life through the management of nutrition impact symptoms (symptoms that result in decreased eating, including anorexia, nausea, dry mouth, and taste changes), as well as symptoms that result from malnutrition, including fatigue, weakness, activity intolerance, slow wound healing, and low mood. There are many gaps in the literature regarding optimal nutritional recommendations for patients on CKM.

Disparities in Pain Management.

Health disparities in pain management remain a pervasive public health crisis. Racial and ethnic disparities have been identified in all aspects of pain management from acute, chronic, pediatric, obstetric, and advanced pain procedures. Disparities in pain management are not limited to race and ethnicity, and have been identified in multiple other vulnerable populations.

Hematological and Other Cancers in People Using Clozapine: Analysis of Australian Spontaneous Reports Between 1995 and 2020.

Background: Recent observational study evidence suggests that clozapine, unlike other antipsychotics, may be associated with a small increased risk of hematological malignancy. This study described characteristics of hematological and other cancers in those taking clozapine reported to the Australian Therapeutic Goods Administration.

Methods: We analyzed public case reports for "clozapine," "Clozaril," or "Clopine" from January 1995 to December 2020 classified as "neoplasm benign, malignant and unspecified" by the Australian Therapeutic Goods Administration.

Reading the room: Autistic traits, gaze behaviour, and the ability to infer social relationships.

Individuals high in autistic traits can have difficulty understanding verbal and non-verbal cues, and may display atypical gaze behaviour during social interactions. The aim of this study was to examine differences among neurotypical individuals with high and low levels of autistic traits with regard to their gaze behaviour and their ability to assess peers' social status accurately. Fifty-four university students who completed the 10-item Autism Quotient (AQ-10) were eye-tracked as they watched six 20-second video clips of people ("targets") involved in a group decision-making task.

Interventions for improving health literacy in people with chronic kidney disease.

Background: Low health literacy affects 25% of people with chronic kidney disease (CKD) and is associated with increased morbidity and death. Improving health literacy is a recognised priority, but effective interventions are not clear.

Objectives: This review looked the benefits and harms of interventions for improving health literacy in people with CKD.

Comprehensive investigation of a structural variant in a bi-specific, N-and C-terminal Fc-fusion molecule, and its monitoring with LC-MS based method.

There is an increasing interest in the generation of Fc-fusion molecules to exploit the effector functions of Fc and the fusion partner, towards improving the therapeutic potential. The Fc-fusion molecules have unique structural and functional attributes that impart various advantages. However, the manufacturing of Fc-fusion molecules possesses certain challenges in the biopharmaceutical development.

Digital health technologies to support medication adherence in chronic kidney disease.

Non-adherence to medications is a critical challenge in the management of people with chronic kidney disease (CKD). This review explores the complexities of adherence in this population, the unique barriers and enablers of good adherence behaviours, and the role of emerging digital health technologies in bridging the gap between evidence-based treatment plans and the real-world standard of care. We present the current evidence supporting the use of digital health interventions among CKD populations, identifying the key research questions that remain unanswered, and providing practical strategies for clinicians to support medication adherence in a digital age.

A probable -acting genetic modifier of Huntington disease frequent in individuals with African ancestry.

Huntington disease (HD)is a dominantly inherited neurodegenerative disorder caused by the expansion of a polyglutamine encoding CAG repeat in the huntingtin gene. Recently, it has been established that disease severity in HD is best predicted by the number of pure CAG repeats rather than total glutamines encoded. Along with uncovering DNA repair gene variants as -acting modifiers of HD severity, these data reveal somatic expansion of the CAG repeat as a key driver of HD onset.