Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy.

We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family history of the patient, while DMD was based on an extreme increase in transaminase and CK (creatine kinase) levels during a biochemical analysis of his blood.

Specificities of the DMD Gene Mutation Spectrum in Russian Patients.

Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common form of muscular dystrophy, accounting for over 50% of all cases. In this regard, in Russia we carry out a program of selective screening for DMD/BMD, which mainly involves male patients. The main inclusion criteria are an increase in the level of creatine phosphokinase (>2000 U/L) or an established clinical diagnosis.

A study of anode area physical parameters of asymmetric combined gas discharge.

The layered structure properties of an asymmetric combined gas discharge have been studied. The main physical parameters of the plasma in the zone of electron acceleration to high energies of tens and hundreds of electron-volts at various values of the supplied microwave power were determined based on the analysis of the discharge current-voltage characteristics. The effect of combined discharge plasma on the surface of products made of various materials and placed in the resonator chamber of a technological unit was experimentally investigated, and it is shown that it can lead to a significant increase in the strength of the processed products in terms of microhardness.