BACKGROUND: Fabry disease (FD) or Anderson FD is a hereditary disease belonging to the group of lysosomal storage diseases caused by decreased or absent activity of the enzyme α-galactosidase A. Enzyme deficiency leads to accumulation of glycospholipids in the lysosomes of cells of various organs, including the heart, kidneys, nervous system, and vascular endothelium. The complexity of the diagnosis of FD is due to the variety of its symptoms, the simultaneous involvement of many organs and systems. At present, possible pathogenetic treatment of the disease is enzyme replacement therapy, but its effectiveness is reduced in the later stages of the disease, when there are irreversible abnormal changes in vital organs and systems. In this regard, an urgent task is the early diagnosis of FD. AIM: Determination of neurological manifestations of FD as well as clinical criteria for screening for FD. MATERIALS AND METHODS: We analyzed cohort studies, randomized controlled trials, systematic reviews and meta-analyses, case-control studies, and case series from scientific medical databases: PubMed, Web of Science, Google Scholar in Russian, and English languages. CONCLUSION: The authors found that lesions of the nervous system in FD are detected in more than 80% of patients and can manifest as isolated or combined lesions of both the central and peripheral and autonomic nervous systems.
BACKGROUND: Atrial fibrillation (AF) is the most common persistent heart rhythm disorder. AIM: Assessment of clinical predictors of atrial fibrillation in the Kazakh population. METHODS: An analytical clinical and epidemiological study of 75 patients with AF of Kazakh nationality. Descriptive analysis of medical records was carried out and the results of laboratory and instrumental research methods. Statistical analysis was carried out using the Statistica 6.0 Software package from StatSoft Inc. (USA) and MS Excel. RESULTS: In the majority of the studied patients (86.7%), atrial fibrillation was associated with hypertension, in 49.3% of patients was diagnosed with coronary artery disease. A permanent form of atrial fibrillation was observed in 63%, in 20% AF manifested itself in the form of paroxysms, in 17% AF was persistent. AF, which arose against the background of CHF, was established in 41.3% of the patients studied by us, while a decrease in LVEF below 40% was observed in 21.3% of the examined patients. In our study, diabetes mellitus was diagnosed as a comorbid pathology in 24% of patients and diabetes mellitus correlated with permanent AF in 66.7%. Thyroid pathology was observed in 9.3% cases. CRHD as a concomitant disease occurred in 12% of cases. In 5.7% of cases, AF was registered as idiopathic (primary) without a history of cardiovascular and concomitant pathology. Smoking as a risk factor was observed in 16%, alcohol consumption, was noted by 8 patients (10.7%). In 40% of cases, patients with AF were obese, 45.3% of the patients were overweight (BMI ≥25).
Objective. To analyze distinctions in multidisciplinary approaches with respect to the timing of patients returning to daily physical activity after uncomplicated lumbar microdisectomy and to the readiness of doctors of various specialties to work according consensus guidelines.Material and Methods. A written questionnaire survey of 60 specialists (20 neurosurgeons, 28 neurologists and 12 rehabilitologists) involved in the management of patients during the first six months after uncomplicated lumbar microdisectomy was conducted. The questionnaire included 12 questions with several answer options on the timing of returning to daily physical activity, and on the need to provide patients with written recommendations on limitations in motion regimen, physical work, sexual activity, and bracing.Results. Significant dissonance both between doctors of the same specialty and of different specialties was demonstrated in the tactics of postoperative management of patients regarding the recommended terms for returning to daily activity. All respondents found it useful to create unified written recommendations on the motion regime, 90 % of specialists are ready to use the proposed recommendations after some modification. There was a slight increase in the recommended timing for return to daily physical activity compared with the recommendations of doctors in other countries.Conclusion. The demonstrated interdisciplinary differences in the treatment, rehabilitation and timing of physical activity restriction for patients after lumbar microdisectomy require unification of the tactics of postoperative management.
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