The relationship of limited joint mobility and finger joint contractures in diabetics to age of onset, duration, and control of diabetes has not been established. We measured the mobility of metacarpophalangeal, wrist, elbow, and ankle joints and assessed the prevalence of finger joint contractures in 254 young diabetics and 110 controls. The presence of microvascular disease was assessed by op...

We report a four-year-old Japanese girl with hyper IgD and periodic fever syndrome. There is a first report of hyper IgD syndrome (HIDS) of which the genomic study was done in Japan. In this report a girl complained of periodic fever and abdominal symptoms accompanied with high levels of mevalonic acid in urine and serum. She has been well controlled by non-steroidal anti-inflammatory drugs (NS...

We report a 5 years old male child with low serum IgG, IgA and IgM levels, who presented with recurrent perianal and oral ulcers, intermittent fever, and protracted diarrhea. Despite the lack of typical respiratory symptoms, low serum IgM level and persistent thrombocytosis, an X-linked hyper-IgM syndrome (X-HIGM) was considered. Laboratory investigations revealed a diagnosis of hyper-IgM syndr...

Six measurements of joint mobility were made in a group of 446 normal adolescents. A method of measuring hip and knee rotation is presented. All these data are normally distributed, and would suggest that joint hypermobility lies at the end of the normal spectrum. There was a weak but significant correlation between each of the different measures of joint mobility except elbow hyperextention. C...

OBJECTIVE To characterize changes in gait by age in patients with Dravet syndrome. DESIGN Prospective, cross-sectional study. SETTING Tertiary children's hospital. PATIENTS Twenty-six subjects with Dravet syndrome, aged 2 to 34 years. Twenty-three patients had mutations of the sodium channel α1 subunit gene, SCN1A. INTERVENTIONS Assessment via video gait analysis, physical examination o...

Wearable robots based on soft materials will augment mobility and performance of the host without restricting natural kinematics. These wearable robots will need wearable soft sensors to monitor the movement of the wearer and robot outside the lab. Until now wearable soft sensors have not demonstrated significant mechanical robustness nor been systematically characterized for human motion studi...

Melorheostosis is a rare chronic disease commonly affecting long bones of the lower extremity with typical imaging feature hyperostosis “candle wax pattern.” Typically associated pain, deformities, stiffness, and joint movement restriction (due to contracture fibrosis), it may also be asymptomatic. considered benign but can extremely debilitating, especially in pediatric context where progressi...