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Mizernitskiy Y.L.,Moscow Research Institute of Pediatrics and Pediatric Surgery | Mel'Nikova I.M.,Yaroslavl State Medical Academy | Marushkov V.I.,Yaroslavl State Medical Academy
Voprosy Prakticheskoi Pediatrii

The article presents an analytic review of literature data about the role of lysates of microbial origin in modern methods of immune rehabilitation in children with frequent respiratory infections. An important principle of immunocorrecting therapy is that it does not replace but supplements the traditional methods of restorative treatment. The results of a study performed by the authors are indicative of the clinical effectiveness of complex restorative treatment with the use of Broncho-Vaxom (the course included 3 cycles, each consisting of a daily intake of 1 capsule for 10 days) in children with frequent acute respiratory infections (ARI). As w-has been found, this method of rehabilitation is more effective and indicated for patients with recurrent bronchites and chronic ENT pathologies of infectious genesis. In children with allergic diseases of the respiratory tract, frequently falling ill with ARI, the use of lysates of microbial origin is less effective and in a number of cases might be accompanied by a sensitizing effect. Children with frequent respiratory diseases constitute a nosologically heterogeneous group, for which administration of timely differential complex rehabilitation is indicated, depending on the character of nosology, presence of adverse socio-biological factors (passive smoking, living conditions, fungal sensitization, etc.), and pathogenetic mechanisms of disease. Source

Marinich V.V.,Polesye State University | Guba V.P.,Moscow State Regional University | Mizernitskiy Y.L.,Moscow Research Institute of Pediatrics and Pediatric Surgery
Voprosy Prakticheskoi Pediatrii

The objective. Evaluation of the prevailing type of higher nervous activity in young sportsmen and its dependence on polymorphism of L/S alleles of the 5HTT gene and C/T alleles of the 5HT2A gene. Patients and methods. The study performed on the basis of the Scientific research laboratory of longitudinal studies of Polesye State University (Republic of Belarus) included 125 boys playing football in a youth sports school. For investigation of the functional state of the CNS (analysis of simple visual-motor reaction, and also complex sensorimotor reactions - of choice and discrimination) a full-colour visual-motor analyzer complex «Psychotest» (company «Neurosoft») was used. Genetic analysis of buccal epithelial smear from the inner surface of the cheek included detection of polymorphism of L/S alleles of the 5HTT gene and C/T alleles of the 5HT2A gene. Polymerase chain reaction (PCR) was used to study the 5HTT gene. Study of polymorphism of the 5HTT gene alleles, along with PCR, included analysis of restriction fragments length polymorphisms (RFLP analysis) obtained after processing PCR products with the restriction enzyme MspI. Results. The study showed that 60% of young sportsmen were carriers of a mixed variant of the 5HTT gene (L/S), the most beneficial for sports games. About 20% had the unfavourable mutant genotype SS responsible for inclination to indirect aggression; in children of this group the mobile type of nervous activity prevailed (the highest SVMR rate and stability of choice and discrimination reactions). Carriers of the LL genotype mostly had average SVMR values and the intermediate between the inert and mobile type of nervous activity. Among the examined sportsmen, the CC and CT variants of the 5HT2A gene prevailed, they were equally distributed in the respondents. The mobile type of nervous activity, as the most preferable for sports games, was recorded in 60% of the carriers of the CC variant; young sportsmen of this group had high SVMR rates and attention stability in choice and discrimination reactions. The mutant variant TT of the 5HTT gene, responsible for quick development of fatigue and decrease of adaptation to loads, was found in 20% of sportsmen. Conclusion. Therefore, in young football players a relation of the type of higher nervous activity and polymorphism of the 5HTT and 5HT2A genes was found. Investigation of genetic markers might become a precondition for individualization and optimization of training process for the maximal sports results. Source

Novikov P.V.,Moscow Research Institute of Pediatrics and Pediatric Surgery
Terapevticheskii Arkhiv

The paper gives an update on orphan (rare) hereditary and congenital diseases and their definitions and considers approaches to estimating their incidence and prevalence and the existing problems of their diagnosis and treatment in the world and our country. It lists the hereditary diseases and syndromes belonging to rare conditions. The paper presents (considers) the most relevant problems of rare diseases, which call for priority solution. Source

Bissler J.J.,Cincinnati Childrens Hospital Medical Center | Kingswood J.C.,Royal Sussex County Hospital | Radzikowska E.,National Tuberculosis and Lung Diseases Research Institute | Zonnenberg B.A.,Universitair Medisch Centrum | And 13 more authors.
The Lancet

Background Angiomyolipomas are slow-growing tumours associated with constitutive activation of mammalian target of rapamycin (mTOR), and are common in patients with tuberous sclerosis complex and sporadic lymphangioleiomyomatosis. The insidious growth of these tumours predisposes patients to serious complications including retroperitoneal haemorrhage and impaired renal function. Everolimus, a rapamycin derivative, inhibits the mTOR pathway by acting on the mTOR complex 1. We compared the angiomyolipoma response rate on everolimus with placebo in patients with tuberous sclerosis or sporadic lymphanioleiomyomatosis-associated angiomyolipomata. Methods In this double-blind, placebo-controlled, phase 3 trial, patients aged 18 years or older with at least one angiomyolipoma 3 cm or larger in its longest diameter (defined by radiological assessment) and a definite diagnosis of tuberous sclerosis or sporadic lymphangioleiomyomatosis were randomly assigned, in a 2:1 fashion with the use of an interactive web response system, to receive oral everolimus 10 mg per day or placebo. The primary efficacy endpoint was the proportion of patients with confirmed angiomyolipoma response of at least a 50% reduction in total volume of target angiomyolipomas relative to baseline. This study is registered with ClinicalTrials.gov number NCT00790400. Results 118 patients (median age 31•0 years; IQR 18•0-61•0) from 24 centres in 11 countries were randomly assigned to receive everolimus (n=79) or placebo (n=39). At the data cutoff, double-blind treatment was ongoing for 98 patients; two main reasons for discontination were disease progression (nine placebo patients) followed by adverse events (two everolimus patients; four placebo patients). The angiomyolipoma response rate was 42% (33 of 79 [95% CI 31-53%]) for everolimus and 0% (0 of 39 [0-9%]) for placebo (response rate difference 42% [24-58%]; one-sided Cochran-Mantel-Haenszel test p<0•0001). The most common adverse events in the everolimus and placebo groups were stomatitis (48% [38 of 79], 8% [3 of 39], respectively), nasopharyngitis (24% [19 of 79] and 31% [12 of 39]), and acne-like skin lesions (22% [17 of 79] and 5% [2 of 39]). Interpretation Everolimus reduced angiomyolipoma volume with an acceptable safety profile, suggesting it could be a potential treatment for angiomyolipomas associated with tuberous sclerosis. Funding Novartis Pharmaceuticals. Source

Kingswood J.C.,Sussex Renal Unit | Jozwiak S.,Childrens Memorial Health Institute | Belousova E.D.,Moscow Research Institute of Pediatrics and Pediatric Surgery | Frost M.D.,Minnesota Epilepsy Group | And 13 more authors.
Nephrology Dialysis Transplantation

Background. Tuberous sclerosis complex (TSC) is characterized by benign tumours in multiple organs, including the brain, kidneys, skin, lungs and heart. Our objective was to evaluate everolimus, an mTOR inhibitor, in the treatment of angiomyolipoma in patients with subependymal giant cell astrocytoma (SEGA) associated with TSC. Methods. EXamining everolimus In a Study of Tuberous Sclerosis Complex-1 (NCT00789828), a prospective, doubleblind, randomized, placebo-controlled, Phase 3 study, examined everolimus in treating SEGA associated with TSC. Patients with serial SEGA growth from pre-baseline to baseline scans were randomly assigned (2:1) to receive 4.5 mg/m2/day everolimus (target blood trough: 5-15 ng/mL; n = 78) or placebo (n = 39). Angiomyolipoma response rates were analysed in patients (n = 44) with target baseline angiomyolipoma lesions (≥1 angiomyolipoma; longest diameter ≥1.0 cm). An angiomyolipoma response rate, defined as the proportion of patients with confirmed angiomyolipoma response, was assessed by kidney CT or MRI screening at baseline, at 12, 24 and 48 weeks and annually. Results. Angiomyolipoma response rates were 53.3% (16/30) and 0% (0/14) for everolimus- and placebo-treated patients, respectively. Angiomyolipoma reductions ≥50% in the sum of volumes of all target lesions were seen only in everolimustreated patients (56.5, 78.3 and 80.0%) compared with placebo-treated patients (0% at each time point) at Weeks 12, 24 and 48, respectively. Greater percentages of everolimustreated patients had angiomyolipoma reductions ≥30% at these same time points (82.6, 100 and 100% versus 8.3, 18.2 and 16.7% for everolimus versus placebo, respectively). Conclusions. Everolimus showed efficacy in reducing angiomyolipoma lesion volume in patients with SEGA associated with TSC. The trial is registered with ClinicalTrials.gov, number NCT00789828; http://clinicaltrials.gov/ct2/show/NCT00789828?term=EXIST-1&rank=1. © 2014 The Author 2014. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. Source

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