Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) resulting from pathogenic variants in PKD1 and PKD2 is the most common form of PKD, but other genetic causes tied to primary cilia function have been identified. Biallelic pathogenic variants in the serine/threonine kinase NEK8 cause a syndromic ciliopathy with extra-kidney manifestations. Here we identify NEK8 as a disease gene for ADPKD in 12 families.

FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring.

Objective: Adult granulosa cell tumors (aGCTs) represent a rare, hormonally active subtype of ovarian cancer that has a tendency to relapse late and repeatedly. Current serum hormone markers are inaccurate in reflecting tumor burden in a subset of aGCT patients, indicating the need for a novel biomarker. We investigated the presence of circulating tumor DNA (ctDNA) harboring a FOXL2 or TERT promoter mutation in serial plasma samples of aGCT patients to determine its clinical value for monitoring disease.

Genetics-first approach improves diagnostics of ESKD patients <50 years old.

Background: Often only chronic kidney disease (CKD) patients with high likelihood of genetic disease are offered genetic testing. Early genetic testing could obviate the need for kidney biopsies, allowing for adequate prognostication and treatment. To test the viability of a 'genetics-first' approach for CKD, we performed genetic testing in a group of kidney transplant recipients aged <50 years, irrespective of cause of transplant.

Markers of hydration status in a 3-day trail running event.

Objective: To examine the relationships between changes in static prestage and poststage measures of commonly used hematological and urinary markers of hydration status and body mass (BM) in participants in a 3-day trail run.

Design: Descriptive field study.

Setting: Three Cranes Challenge trail run, South Africa.

Phadiatop testing in assessing predisposition to respiratory tract symptoms of allergic origin in athletes.

Objectives: To validate the use of the Phadiatop test as a predictor of allergy-associated respiratory tract symptoms (RTS) in trail runners.

Methods: The incidence of self-reported RTS was documented in 16 runners for 31 days and related to the Phadiatop status and circulating markers of allergic responses (changes in concentrations of serum IgE (sIgE), differential leucocyte counts) at 8 time points before, during and after a 3-day 95 km trail run.

Results: Twelve (75%) athletes, of whom 7 (58%) were Phadiatoppositive, presented with post-race RTS.

Intestinal temperature, heart rate, and hydration status in multiday trail runners.

Objective: To assess heart rate (HR), intestinal body temperature (T(intest)), and hydration status changes and relationships in 12 participants in a 3-day trail run.

Design: Descriptive field study.

Setting: : Three Cranes Challenge trail run, in Karkloof, KwaZulu-Natal, South Africa.

Upper respiratory tract infection symptoms in ultramarathon runners not related to immunoglobulin status.

Objective: To determine the association between variation in exercise load, immunoglobulin (Ig) status, and self-reported symptoms of upper respiratory tract infection (URTI) in ultramarathon runners.

Design: Longitudinal observational field study.

Setting: Four weeks before and 2 weeks after an 86.

A mathematical model to describe fat oxidation kinetics during graded exercise.

Purpose: The purpose of this study was to develop a mathematical model (sine model, SIN) to describe fat oxidation kinetics as a function of the relative exercise intensity [% of maximal oxygen uptake (%VO2max)] during graded exercise and to determine the exercise intensity (Fatmax) that elicits maximal fat oxidation (MFO) and the intensity at which the fat oxidation becomes negligible (Fatmin). This model included three independent variables (dilatation, symmetry, and translation) that incorporated primary expected modulations of the curve because of training level or body composition.

Methods: Thirty-two healthy volunteers (17 women and 15 men) performed a graded exercise test on a cycle ergometer, with 3-min stages and 20-W increments.

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.

Purpose: A large multigenerational family with benign familial neonatal convulsions (BFNC) was revisited to identify the disease-causing mutation and to assess long-term outcome.

Methods: We supplemented the original data with recent clinical and neurophysiologic data on patients and first-degree relatives, including information on seizure recurrence. We conducted linkage analysis at the EBN1 and EBN2 loci, followed by mutation analysis of KCNQ2.

A physiological appraisal of aerobic riding in women.

The aim of this study was to compare selected acute cardiorespiratory and metabolic effects of exercise on a Fitness Flyer (FF) aerobic rider to those of treadmill (TM) running. Fourteen women, aged 23-35 years, performed incremental exercise tests to exhaustion on the TM and FF. Ratings of perceived exertion (RPE), heart rate (HR), minute ventilation (VE), VO2, and ventilatory equivalent (VEq) were compared in each subject during each phase of the exercise protocols, and blood lactate concentrations were measured before and 2-3 minutes after the exercise tests on the 2 modalities.

Nutritional aspects in ultra-endurance exercise.

Purpose Of Review: Despite much current debate regarding central and peripheral neural mechanisms which may be responsible for the onset of fatigue during prolonged exercise, maintenance of nutritional and hydration status remains critical for successful participation in ultra-endurance exercise. This review focuses on substrate and fluid homeostasis during ultra-endurance exercise and the use of nutritional supplementation both as ergogenic aid and to attenuate exercise-induced immunosuppression.

Recent Findings: Current evidence continues to support mandatory high carbohydrate intakes (1).