Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1.

Background: Persons with rare disorders may experience poorer health services due to limited knowledge about rare disorders among health professionals. Knowledge about how persons with rare disorders perceive health services can help inform service providers to enhance their practices.

Methods: We conducted a self-report survey among adults with the rare disorders hereditary spastic paraparesis (HSP; n = 108; mean age 57.

Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls.

Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired health-related quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples.

High-intensity aerobic interval training improves aerobic fitness and HbA1c among persons diagnosed with type 2 diabetes.

Purpose: It remains to be established how high-intensity aerobic interval training (HAIT) affects risk factors associated with type 2 diabetes (TD2). This study investigated effects of HAIT on maximal oxygen uptake (VO), glycated Hemoglobin type A1C (HbA1c), insulin resistance (IR), fat oxidation (FatOx), body weight (BW), percent body fat (%BF), lactate threshold (LT), blood pressure (BP), and blood lipid profile (BLP) among persons with T2D. Results were compared to the effects after a moderate-intensity training (MIT) program.

Day to day variability in fat oxidation and the effect after only 1 day of change in diet composition.

Indirect calorimetry is a common and noninvasive method to estimate rate of fat oxidation (FatOx) during exercise, and test-retest reliability should be considered when interpreting results. Diet also has an impact on FatOx. The aim of the present study was to investigate day to day variations in FatOx during moderate exercise given the same diet and 2 different isoenergetic diets.

"She came out of mum's tummy the wrong way". (Mis)conceptions among siblings of children with rare disorders.

Misconceptions or uncertainty about the rare disorder of a sibling may cause adjustment problems among children. New knowledge about their misconceptions may enable genetic counselors to provide targeted information and increase siblings' knowledge. This study aims to describe misconceptions and uncertainties of siblings of children with rare disorders.