A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure.

Background: Kidney failure in young people is often unexplained and a significant proportion will have an underlying genetic diagnosis. National Health Service England pioneered a comprehensive genomic testing service for such circumstances accessible to clinicians working outside of genetics. This is the first review of patients using this novel service since October 2021, following its introduction into clinical practice.

Cochlear implant electrode design for safe and effective treatment.

The optimal placement of a cochlear implant (CI) electrode inside the scala tympani compartment to create an effective electrode-neural interface is the base for a successful CI treatment. The characteristics of an effective electrode design include (a) electrode matching every possible variation in the inner ear size, shape, and anatomy, (b) electrically covering most of the neuronal elements, and (c) preserving intra-cochlear structures, even in non-hearing preservation surgeries. Flexible electrode arrays of various lengths are required to reach an angular insertion depth of 680° to which neuronal cell bodies are angularly distributed and to minimize the rate of electrode scalar deviation.

How to solve a clinical conundrum: Have you tried a trio exome analysis?

The following report describes the clinical journey of a 5-month-old male infant who presented with a significant kidney injury following a diarrhoeal illness. His course was complicated by severe hypertension and a number of acute life-threatening events necessitating periods of time on the intensive care unit, where he received ventilatory support and underwent renal replacement therapy and treatment with a monoclonal antibody therapy.We take the reader on a stepwise journey from presentation through to final diagnosis, discussing important biochemical, haematological and radiological features where learning points are discussed.

Muscle performance in octogenarians: Factors affecting dynapenia.

Background: The muscle performance is associated with several health outcomes in adults, however modifiable and non-modifiable risk factors in octogenarians have not yet been fully investigated. The aim of this study was to analyze the potential risk factors that negatively affect muscle strength in octogenarians.

Methods: This observational, descriptive, cross-sectional study included 87 older adult participants (56 women and 31 men) attending a geriatric clinic.

Field-Based Estimates of Muscle Quality Index Determine Timed-Up-and-Go Test Performance in Obese Older Women.

Objective: The muscle quality index (MQI) is associated with numerous health outcomes in adults; however, the effects of distinct MQI on functional capacity in obese older women have not yet been fully investigated. Thus, we investigated the contribution of different muscle quality indices on TUG performance prediction in obese older women. We secondarily evaluated the association between MQI, aerobic capacity performance (Treadmill performance and 6-minute walk test), and obesity indices (BMI, body fat percentage, and neck, waist, and hip circumference).

Fifteen-minute consultation: An approach to the child with nephrocalcinosis.

Nephrocalcinosis is a common problem faced in both paediatrics and neonates, which may need referral on to paediatric nephrology. This 15 min consultation aims to look at children of different age groups (neonates, children 1-5 years old and older children) looking particularly at history, examination, causes, initial investigations and management.

Field-based versus laboratory-based estimates of muscle quality index in adolescents with and without Down syndrome.

Background: Low muscle quality index (MQI) is a potential risk of developing functional impairments in older people. However, considering that individuals with Down syndrome (DS) present with a faster decline in biological aging, an investigation on MQI in individuals with DS is necessary. The aims of this present cross-sectional study were to compare (1) MQI between adolescents with and without DS and (2) evaluate laboratory versus field-based estimates of MQI.

A Useful Blood Flow Restriction Training Risk Stratification for Exercise and Rehabilitation.

Blood flow restriction training (BFRT) is a modality with growing interest in the last decade and has been recognized as a critical tool in rehabilitation medicine, athletic and clinical populations. Besides its potential for positive benefits, BFRT has the capability to induce adverse responses. BFRT may evoke increased blood pressure, abnormal cardiovascular responses and impact vascular health.

Effects of Resistance Training on Muscle Quality Index, Muscle Strength, Functional Capacity, and Serum Immunoglobulin Levels between Obese and Non-obese Older Women.

Considering the negative impact of obesity on neuromuscular and immune systems, we sought to compare the effects of a 10-week resistance training (RT) program on muscle quality index (MQI), muscle strength, functional capacity, and immunoglobulins in older women with and without obesity. Thirty-nine older women participated in the present study (age: 69.02 ± 6.

Comparison of field- and laboratory-based estimates of muscle quality index between octogenarians and young older adults: an observational study.

Muscle quality (the ratio of strength to lean muscle mass) might be a better indicator of muscle function than strength alone. Differences in muscle quality index (MQI) between octogenarians and young older adults remain unclear. The aims of the present cross-sectional study were to compare (1) MQI between octogenarians and young older adults, (2) lab versus field-based MQI tools, and (3) determine possible confounding factors affecting MQI in older adults.

Effect of high-velocity and traditional resistance exercise on serum antioxidants and inflammation biomarkers in older women: A randomized crossover trial.

Introduction: Contrary to the production of oxidant and inflammation biomarkers, antioxidant enzymes decrease with age and the adaptive response to oxidative stress is reduced. The effects of the different resistance exercise protocols to attenuate these conditions are largely unexplored.

Objective: We compared the acute effects of traditional resistance exercise (TRE) and high velocity RE (HVRE) on inflammatory biomarkers and antioxidant activity in elderly women.

Effects of resistance training on hepcidin levels and iron bioavailability in older individuals with end-stage renal disease: A randomized controlled trial.

Anemia is an inherent complication of older individuals with end-stage renal disease (ESRD) that is associated with inflammation which in turn is an important factor in the activation of hepcidin that contributes to the decrease in serum iron. Athough resistance training (RT) seems to reduce inflammation in ESRD, its influence on hepcidin and iron availability in hemodialysis patients is unclear. Therefore, the aim of this study was to exemine the effects of RT in on inflammatory profile, hepcidin, and iron status in older individuals with ESRD.

Perspectives on the Therapeutic Benefits of Arginine Supplementation in Cancer Treatment.

Background: Arginine is considered a semi-essential amino acid in healthy adults and the elderly. This amino acid seems to improve the immune system, stimulate cell growth and differentiation, and increase endothelial permeability, among other effects. For those reasons, it has been theorized that arginine supplementation may be used as an adjuvant to conventional cancer therapy treatments.

A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington disease.

Objective: To test the hypothesis that chronic treatment of early-stage Huntington disease (HD) with high-dose coenzyme Q10 (CoQ) will slow the progressive functional decline of HD.

Methods: We performed a multicenter randomized, double-blind, placebo-controlled trial. Patients with early-stage HD (n = 609) were enrolled at 48 sites in the United States, Canada, and Australia from 2008 to 2012.

The high-affinity D2/D3 agonist D512 protects PC12 cells from 6-OHDA-induced apoptotic cell death and rescues dopaminergic neurons in the MPTP mouse model of Parkinson's disease.

In this study, in vitro and in vivo experiments were carried out with the high-affinity multifunctional D2/D3 agonist D-512 to explore its potential neuroprotective effects in models of Parkinson's disease and the potential mechanism(s) underlying such properties. Pre-treatment with D-512 in vitro was found to rescue rat adrenal Pheochromocytoma PC12 cells from toxicity induced by 6-hydroxydopamine administration in a dose-dependent manner. Neuroprotection was found to coincide with reductions in intracellular reactive oxygen species, lipid peroxidation, and DNA damage.

Iron treatment and inflammatory bowel disease: what happens in real practice?

Background And Aims: Iron deficiency anaemia (IDA), the most common extra-intestinal complication of inflammatory bowel disease (IBD), negatively impacts quality of life. We audited the recent practice of anaemia treatment in an unselected IBD population.

Methods: A questionnaire was distributed to adult IBD outpatients in a university hospital to assess the form and frequency of iron prescribed, duration of use, side effects, and completion of therapy.

Dopamine transporter imaging is associated with long-term outcomes in Parkinson's disease.

Dopamine (DA) transporter (DAT) imaging has been studied as a diagnostic tool for degenerative parkinsonism. Our aim was to measure the prognostic value of imaging for motor and nonmotor outcomes in Parkinson's disease (PD). We prospectively evaluated a Parkinson's cohort after enrollment in a de novo clinical trial with a battery of motor (UPDRS), cognitive (Montreal Cognitive Assessment), and behavioral measures.

Behavioral deficit, oxidative stress, and mitochondrial dysfunction precede tau pathology in P301S transgenic mice.

Abnormal tau accumulation can lead to the development of neurodegenerative diseases. P301S mice overexpress the human tau mutated gene, resulting in tau hyperphosphorylation and tangle formation. Mice also develop synaptic deficits and microglial activation prior to any neurodegeneration and tangles.

Portal to Alzheimer's disease.

Genetic inactivation of the mitochondrial self-destruction mechanism improves cognition in a mouse model of Alzheimer’s disease (pages 1097–1105).

Uncoupling protein 2 protects dopaminergic neurons from acute 1,2,3,6-methyl-phenyl-tetrahydropyridine toxicity.

Oxidative stress is implicated in the death of dopaminergic neurons in sporadic forms of Parkinson's disease. Because oxidative stress can be modulated endogenously by uncoupling proteins (UCPs), we hypothesized that specific neuronal expression of UCP2, one member of the UCP family that is rapidly induced in the CNS following insults, could confer neuroprotection in a mouse model of Parkinson's disease. We generated transgenic mice overexpressing UCP2 in catecholaminergic neurons under the control of the tyrosine hydroxylase promoter (TH-UCP2).