Особенности генетического полиморфизма HLA-антигенов при приобретенной апластической анемии у детей

This study presents the genetic polymorphism of HLA-antigens in acquired aplastic anemia (AAA) in 147 children (85 boys и 62 girls) aged 1 to 18 with. The control group is consisted of 1700 umbilical cord blood samples of healthy newborns. The genetic polymorphism of HLA was studied in groups of children with AAA, divided by gender and age. Our results revealed distinction in HLA-markers of predisposition and sustainability to AAA. Possible differences in factors of immunogenetic predisposition suggest different mechanisms involved in the development of the disease in different groups of children and reconsider the existing model of the pathogenesis of AAA.В статье представлены результаты исследования генетического полиморфизма HLA-антигенов при приобретенной апластической анемии (ПАА) у 147 детей в возрасте от 1 до 18 лет. Контрольная группа была представлена 1700 образцами пуповинной крови условно здоровых новорожденных детей. Анализ полученных данных позволил выявить отличающиеся у детей разного пола и возраста HLA-маркеры предрасположенности и протекции к ПАА. Вероятное различие в факторах иммуногенетической предрасположенности позволяет предположить участие разных механизмов в развитии заболевания у разных групп детей и по-новому рассматривать уже имеющиеся модели патогенеза ПАА

Risk profiles and one-year outcomes of patients with newly diagnosed atrial fibrillation in India: Insights from the GARFIELD-AF Registry.

BACKGROUND: The Global Anticoagulant Registry in the FIELD-Atrial Fibrillation (GARFIELD-AF) is an ongoing prospective noninterventional registry, which is providing important information on the baseline characteristics, treatment patterns, and 1-year outcomes in patients with newly diagnosed non-valvular atrial fibrillation (NVAF). This report describes data from Indian patients recruited in this registry. METHODS AND RESULTS: A total of 52,014 patients with newly diagnosed AF were enrolled globally; of these, 1388 patients were recruited from 26 sites within India (2012-2016). In India, the mean age was 65.8 years at diagnosis of NVAF. Hypertension was the most prevalent risk factor for AF, present in 68.5% of patients from India and in 76.3% of patients globally (P < 0.001). Diabetes and coronary artery disease (CAD) were prevalent in 36.2% and 28.1% of patients as compared with global prevalence of 22.2% and 21.6%, respectively (P < 0.001 for both). Antiplatelet therapy was the most common antithrombotic treatment in India. With increasing stroke risk, however, patients were more likely to receive oral anticoagulant therapy [mainly vitamin K antagonist (VKA)], but average international normalized ratio (INR) was lower among Indian patients [median INR value 1.6 (interquartile range {IQR}: 1.3-2.3) versus 2.3 (IQR 1.8-2.8) (P < 0.001)]. Compared with other countries, patients from India had markedly higher rates of all-cause mortality [7.68 per 100 person-years (95% confidence interval 6.32-9.35) vs 4.34 (4.16-4.53), P < 0.0001], while rates of stroke/systemic embolism and major bleeding were lower after 1 year of follow-up. CONCLUSION: Compared to previously published registries from India, the GARFIELD-AF registry describes clinical profiles and outcomes in Indian patients with AF of a different etiology. The registry data show that compared to the rest of the world, Indian AF patients are younger in age and have more diabetes and CAD. Patients with a higher stroke risk are more likely to receive anticoagulation therapy with VKA but are underdosed compared with the global average in the GARFIELD-AF. CLINICAL TRIAL REGISTRATION-URL: http://www.clinicaltrials.gov. Unique identifier: NCT01090362

GENETIC POLYMORPHISM OF HLA ANTIGENS IN ACQUIRED APLASTIC ANEMIA

Certain groups of HLA gene alleles play an important role in emergence of acquired aplastic anemia (AAA). We studied HLA antigens in Slavic children with AAA of different clinical forms, severity, and response to immunosuppressive therapy (IST). The study was carried out in 147 children With AAA. The reference group was formed from 1700 specimens of umbilical blood from healthy newborns. HLA genotyping showed that DRB1*15 and B*51 were common markers of liability to idiopathic aplastic anemia for boys from the age of 14 years and girls aged under 14 years; characteristic markers were DQB1*06 for girls aged under 14 years and B*08, B*40, DRB1*03 for boys aged under 14 years. A common marker of liability to extremely severe AAA in boys and to severe AAA, including the disease sensitive to combined IST, was HLA-DRB1*15; characteristic markers of liability to extremely severe AAA in boys were B*08, B*14, and DRB1*03. These results suggested a novel view on the available models of AAA pathogenesis

GENETIC POLYMORPHISM OF HLA ANTIGENS IN ACQUIRED APLASTIC ANEMIA

Certain groups of HLA gene alleles play an important role in emergence of acquired aplastic anemia (AAA). We studied HLA antigens in Slavic children with AAA of different clinical forms, severity, and response to immunosuppressive therapy (IST). The study was carried out in 147 children With AAA. The reference group was formed from 1700 specimens of umbilical blood from healthy newborns. HLA genotyping showed that DRB1*15 and B*51 were common markers of liability to idiopathic aplastic anemia for boys from the age of 14 years and girls aged under 14 years; characteristic markers were DQB1*06 for girls aged under 14 years and B*08, B*40, DRB1*03 for boys aged under 14 years. A common marker of liability to extremely severe AAA in boys and to severe AAA, including the disease sensitive to combined IST, was HLA-DRB1*15; characteristic markers of liability to extremely severe AAA in boys were B*08, B*14, and DRB1*03. These results suggested a novel view on the available models of AAA pathogenesis

Immunogenetic markers of Crohn's disease in adults population of the Moscow region

Aim: to study immunogenetic markers of predisposition to the development and protection for Crohn's disease in adults population of the Moscow region. Material and methods. The study included 53 samples of peripheral blood of patients with Crohn's disease in the Moscow region. The control group was represented by 1,700 samples of umbilical cord blood is healthy newborns. Revealing HLA antigens at low level performed by SSO method on DynalRELI 48 processor. The results received with ambiguous interpretation was using PCR-SSP method (Ivitrogen). Results. Were found the positive and negative associations of groups of HLA alleles with clinical form, the course of Crohn's disease and response to steroid treatment, in particular revealed that, predisposition to the development for Crohn's disease in women and with sensitivity to steroid treatment in this disease associated allele group C*12, to the characteristic restricting markers such as Crohn's disease include the В 38 and A*11 markers nonrestricting, nonpenetrating noninflammatory type groups are alleles B*56 and C*14 and C*14 is also associated with the risk of Crohn's disease in men, characteristic markers of protection to the development of the disease crown with chronic relapsing and severe clinical course are DQB1*02 and DQB1*03, respectively. Conclusion. These results demonstrate the need for studies of gene polymorphism HLA-system, not only in relation to the disease in general, but in selected patients with clinical groups.</p