[Choanoplasty in children of the first year of life: new opportunities and rehabilitation without stents].

Unlabelled: The article presents literature and our own data on surgical treatment and options for solving the problem of restenosis for congenital choanal atresia in children under one year of age. A new stentless choanoplasty technique using fibrin glue for fixation of posterior septal flaps is presented. This method has patent No.

Analysis of the Phenotypes in the Rett Networked Database.

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. is the major causative gene. In addition, and mutations have been reported in Rett patients, especially with the atypical presentation.

Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.

Introduction: The EXIST-2 (NCT00790400) study demonstrated the superiority of everolimus over placebo for the treatment of renal angiomyolipomas associated with tuberous sclerosis complex (TSC) or sporadic lymphangioleiomyomatosis (LAM). This post hoc analysis of EXIST-2 study aimed to assess angiomyolipoma tumor behavior among patients who submitted to continued radiographic examination following discontinuation of everolimus in the noninterventional follow-up phase.

Methods: For patients who discontinued everolimus at the completion of extension phase for reasons other than angiomyolipoma progression, a single CT/MRI scan of the kidney was collected after 1 year of treatment discontinuation.

The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma.

Background: Patients with tuberous sclerosis complex (TSC) often have multiple TSC-associated hamartomas, particularly in the brain and kidney.

Methods: This was a post hoc analysis of pediatric patients being treated for subependymal giant cell astrocytomas (SEGAs) during the phase 3, randomized, double-blind, placebo-controlled EXIST-1 trial. Patients were initially randomly assigned to receive everolimus 4.

[Search for an Optimal Formula for Calculation of the Corrected QT Interval in Children Based on Data of Clinical-Epidemiological Study].

The aim of the study was to compare different types of QT correction, establish age norms of QT duration, and assess associations between QT duration and heart rate (HR) in children. The sample comprised 0-18-year-old children (n=5909) selected from general population. The study examined several existing formulas of corrected QT (Bazett, Fridericia, Framingham, and Hodges) and modified Bazett formula developed for healthy children.

TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.

Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC.

[Histiocytoid cardiomyopathy concurrent with noncompact myocardium, myocarditis, and pericarditis].

The paper presents a practical case of histiocytoid cardiomyopathy concurrent with noncompact myocardium, atrial septal defects, myocarditis, and pericarditis in an 8-month-old girl, by describing their clinical presentations and a morphological examination.

Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial.

Background: Mammalian target of rapamycin (mTOR) inhibitors are recommended as first-line treatment of renal angiomyolipoma associated with tuberous sclerosis complex (TSC) or sporadic lymphangioleiomyomatosis (sporadic LAM), but follow-up is limited. Longer term efficacy and tolerability data from a Phase 3, double-blind, placebo-controlled trial are presented.

Methods: Following favorable results from the primary analysis (data cutoff 30 June 2011) of the EXIST-2 trial, patients still receiving study treatment were allowed to enter an open-label extension.

Distinct effect of xenobiotics on the metal-binding properties of protein molecules.

The X-ray standing-wave method was applied to study the elemental composition and molecular organization of ordered protein films of alkaline phosphatase exposed to different xenobiotics (drug compounds, lead). Binding of metal ions from triply distilled water to protein molecules has been experimentally observed. Definite differences in the arrangement of impurity metal ions in the films have been established.

Photodynamic inactivation of bacteria in vitro under the effect of blue light.

We studied the photodynamic inactivation of E. coli, S. aureus, and P.

Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study.

Background: In the EXIST-1 trial, initiated on Aug 10, 2009, more than 35% of patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex had at least 50% reduction in SEGA volume after 9·6 months of treatment with everolimus. In this Article, we report interim data (up to Jan 11, 2013) to support longer-term tolerability and efficacy of everolimus from the continuing 4-year extension phase of EXIST-1.

Methods: We assessed data from a prospective, open-label extension of a multicentre, phase 3, randomised, double-blind, placebo-controlled study in patients with tuberous sclerosis complex who had SEGA that was growing and needed treatment.

TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.

Background: Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysiology and in the management of TSC, several questions remain unanswered. A disease registry could be an effective tool to gain more insights into TSC and thus help in the development of improved management strategies.

The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.

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, double-blind, randomized, placebo-controlled, Phase 3 study, examined everolimus in treating SEGA associated with TSC.

Biochemical indicators of atherogenic and protective activity of xydiphone in experimental animals.

Atherosclerotic plaque formation and vascular calcinosis were modeled in a subchronic experiment. Reduced HDL and elevated LDL concentrations, increased atherogenic index and albumin toxicity index, and high blood levels of triglycerides and uric acid were early markers of pathology. Xydiphone in combination with vitamin D effectively reduced these changes and the degree of vascular calcinosis.

Sodium-channel blockers might contribute to the prevention of ventricular tachycardia in patients with long QT syndrome type 2: a description of 4 cases.

Four patients with long QT type 2, aged 11 to 18 years from unrelated families, with recurrent syncope and polymorhic ventricular tachycardia were studied. Long QT syndrome was diagnosed in these children at ages 4 to 7 years. Syncope, QT prolongation on electrocardiogram (corrected QT interval ≥ 490 milliseconds), notched T-wave morphology, bradycardia, and polymorphic ventricular arrhythmia were found in all of the patients.

[Prevalence of electrocardiographical signs of right ventricular arrhythmogenic dysplasia].

Unlabelled: Right ventricular arrhythmogenic dysplasia (RVAD) is a state with high risk of sudden death in young patients. Early diagnosis of RVAD can facilitate sudden death prevention.

Aim: To assess prevalence of electrocardiographical signs of RVAD among children with "idiopathic" tachyarrhythmias.

[Comparison of QT-Interval Measurement Techniques and Their Clinical Value].

Long QT-interval is one of most important predictors of risk of development of life threatening arrhythmias and sudden death. Correct measurement of QT-interval is essential for diagnosis of its prolongation. At present the Bazett formula for calculation of corrected QT (QT(c) = QT/ radical (RR)) is a standard method of QT estimation.

[Current trends of cardiovascular morbidity and mortality of children in Russian Federation. Structure of cardiac pathology in childhood].

Analysis of structure and prevalences of cardiovascular diseases among children and adolescents is presented and recent trends of cardiovascular morbidity and mortality as well as regional differences in dynamics of these parameters in this age group are discussed. Current situation is characterized by pronounced lowering of age of onset of cardiovascular diseases previously considered as diseases of the adult. Clinical picture and prognosis of many pathological states also has been changed.

[Age aspects of diagnosing and treating gastroesophageal reflux in children].

Regurgitation is one of the most frequent symptoms in newborn infants and children during the first months of their life. Regurgitation is defined as a passive reflux of a small amount of stomach contents into the gullet and oral cavity. Regurgitations can be found both as independent manifestations in practically healthy infants and as a concurrent pathology in a number of diseases.

[Netilmicin in the complex therapy of pneumonia in newborns].

Clinical efficacy of netilmicin was evaluated at 22 newborns (body weight from 1000 to 3600 g, delivery on pregnancy period from 28 to 41 weeks) with pneumonia caused by artificial pulmonary ventilation. Pneumonia was moderate at 13 patients and severe at 9 patients. Microorganisms isolated from tracheobronchial aspirates were mainly (in 19 cases of 22) susceptible to netilmicin.

[The effect of netilmicin, amikacin, ceftazidime and cefotaxime on the adhesive properties of microorganisms isolated from newborn infants].

The effect of netilmycin, amikacin, ceftazidime and cefotaxime on adhesion of Lactobacillus spp. (14 strains), Escherichia coli (21 strains), Klebsiella pneumonia (15 strains), Enterococcus sp. (18 strains), Candida albicans (15 strains) was investigated.

[Comparative diagnostic value of the analysis of the skeletal muscle and lymphocytes in mitochondrial diseases].

Cytochemical analysis of lymphocytes' enzymes may could be an alternative method to skeletal muscle biopsy in diagnosis of mitochondrial pathology. We investigated biopsies of skeletal muscles and cytochemical status of lymphocytes in 14 children with mitochondrial pathology. Lymphocytes were investigated also in 12 health children.

Identification of marker chromosomes by in situ hybridization technique using alpha and "classical" satellite DNA probes with relative chromosomal specificity.

Nine additional marker chromosomes in children with mental retardation and congenital malformation were investigated by routine cytogenetic and in situ hybridization techniques. Five metacentric non-satellited markers and four satellited markers of unknown origin were determined by routine and banding staining. To determine the origin of small marker chromosomes a special scheme involving the sequential application of definite alphoid and "classical" satellite DNA probes with the relative chromosome specificity was employed.

Suppression of anaphylactic shock in sensitized guinea pigs by cytochalasin B.

Twenty-three guinea pigs, presensitized with horse serum, were injected intracardially with 1 ml of 1.5 X 10(-4) M cytochalasin B in a 2.5% dimethyl sulfoxide solution, 1.