Tumor Screening, Incidence, and Treatment for Patients with Severe Motor and Intellectual Disabilities.

Background: The increasing age of patients with severe motor and intellectual disabilities (SMID) has become a serious concern. Few studies have investigated tumor treatment in this population.

Methods: Tumor treatments for 12 SMID patients were examined.

FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.

Mutation in the fukutin-related protein (FKRP) gene causes alpha-dystroglycanopathies, a group of autosomal recessive disorders associated with defective glycosylated alpha-dystroglycan (α-DG). The disease phenotype shows a broad spectrum, from the most severe congenital form involving brain and eye anomalies to milder limb-girdle form. FKRP-related alpha-dystroglycanopathies are common in European countries.

Renal dysfunction can occur in advanced-stage Duchenne muscular dystrophy.

Introduction: With improved treatments, patients with Duchenne muscular dystrophy (DMD) can survive far beyond adolescence. However, advanced-stage DMD patients are at risk of developing renal dysfunction. In this study, long-term renal function outcomes and associated risk factors in advanced stage DMD were analyzed.

Carnitine deficiency: Risk factors and incidence in children with epilepsy.

Background: Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding. Few studies have examined the correlation between each risk factor and carnitine deficiency in children with epilepsy. We examined the influence of these risk factors on carnitine deficiency, and identified a formula to estimate plasma free carnitine concentration in children with epilepsy.

Skin temperature responses to cold stress in patients with severe motor and intellectual disabilities.

Patients with severe motor and intellectual disabilities (SMID) often suffer from autonomic nervous system disturbances. At the same time, the caregivers of patients with SMID face challenges to understand the patients' chronic health problems effectively by simply observing them. Therefore, recognizing specific symptoms is important to improve support for SMID.

Differences in automated analyzers for assessing the use of imprecise serum chloride concentrations as indirect predictors of serum bromide concentrations.

Although bromide (Br) is used to treat intractable epilepsy, serum Br concentrations are not routinely analyzed. The present study measured serum Br(-) and Cl(-) concentrations in Br-treated epileptic patients, showing a significant correlation between Br(-) and imprecise Cl(-) concentrations, which suggested the use of a unique correlating equation for each diagnostic tool. Results indicated that imprecise Cl(-) concentrations are useful markers for measuring appropriate serum Br(-) levels in epileptic patients.

Interleukin-1beta enhances susceptibility to hyperthermia-induced seizures in developing rats.

Cytokines have been shown to influence susceptibility to febrile seizures and epilepsy. In this study, the role of interleukin-1beta (IL-1beta) was examined in developing rats. IL-1beta and interleukin-1 receptor antagonist (IL-1ra) were administered to developing rats, and seizures were induced by moist warm air.