Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and Founder Variant c.657_661del5.

Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the ( gene (c.657_661del5, p.

[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].

Objective: To analyze the molecular defect, a phenotype of hereditary neuropathy with liability to pressure palsies (HNPP, OMIM 162500), in patients with PMP22 gene mutation caused by 1.5 Mb deletion at 17p11.2.

[Effect of D,L-buthionine-S,R-sulfoximine on the ratio of glutathione forms and the growth of tatar buckwheat calli].

We studied the intracellular content of reduced (GSH) and oxidized (GSSG) glutathione, glutathione reductase activity, glutathione-S-transferase, and ascorbate peroxidase in morphogenic and nonmorphogenic Tatar buckwheat calli during the culture cycle as well as under the treatment with D,L-buthionine-S,R-sulfoximine (BSO), an inhibitor of γ-glutamylcysteine synthase, the first enzyme of glutathione biosynthesis. We found that, during passaging, cultures only slightly differed in total glutathione content; however, the content of GSH was higher in the morphogenic culture, whereas the content of GSSG was higher in the nonmorphogenic culture. In the morphogenic callus, the glutathione-S-transferase activity was 10-20 times higher and the glutathione reductase activity, was 2-2.

[Modern approach to gait restoration in patients in the acute period of cerebral stroke].

An objective of the study was to work out a complex program of gait restoration in patients with stroke using robot-driven mechanized gait trainers. The study included patients in the acute period of stroke (the mean age 59+/-10,4 years) who were not able to walk without assistance; 53 patients of the main group and 25 patients of the control group. The mean interval from the disease onset to the beginning of gait retraining sessions with mechanized gait trainers was 14+/-1,6 days depending on the adequacy of functional probes.

[The use of a robot-assisted Gait Trainer GT1 in patients in the acute period of cerebral stroke: a pilot study].

An aim of the study was to evaluate efficacy of using Gait Trainer GT1, a robot-assisted gait trainer with a system of body-weight support, for the rehabilitation of gait in patients in the acute period of cerebral stroke. A main group included 30 patients in the acute period of ischemic and hemorrhage stroke and a control group--20 age- and sex matched patients. Patients of both groups had daily kinesitherapy sessions with a rehabilitator.