A5006198603- Neonatal Respiratory Health Research
- Congenital Diaphragmatic Hernia Studies
- Pediatric health and respiratory diseases
- Respiratory viral infections research
- Cystic Fibrosis Research Advances
- Peptidase Inhibition and Analysis
- Genetic and Kidney Cyst Diseases
- Immunodeficiency and Autoimmune Disorders
- Neuroendocrine Tumor Research Advances
- Pneumonia and Respiratory Infections
- Genetics and Neurodevelopmental Disorders
- Child and Adolescent Health
- Respiratory and Cough-Related Research
- Genetic Syndromes and Imprinting
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Epigenetics and DNA Methylation
- Healthcare Quality and Satisfaction
City Clinical Hospital
2022-2024
Scientific Research Institute of Healthcare Organization and Medical Management
2022
Pirogov Russian National Research Medical University
2022
Primary ciliary dyskinesia (PCD) is an orphan disease associated with mutations in several genes. It a ciliopathy, abnormality of the cilia and flagella. Ciliopathies include extremely rare Simpson - Golabi Bemel syndrome (SSGB) type II. The aim this article to familiarize reader possibility simultaneous presence II SSGB PCD patient bronchiectasis (BE). Results. first clinical observation Russian literature presented withhistory, physical examination, including morphologic results additional...
Despite the manifestations of primary ciliary dyskinesia (PCD) in neonatal period or first year life, diagnosis this rare disease is usually established at age 4–7 years. The aim study was to search for reserves early PCD. Materials and methods research: 17 patients were observed with PCD, confirmed on basis PICADAR scale, highspeed light video microscopy (all patients) transmission electron (in 3 mucous biopsy respiratory membrane using a genetic one patient). Results: all born full-term;...
Organizing pneumonia (OP) is an interstitial lung disease (ILD), which characterized by the proliferation of granulation tissue in bronchioles and alveoli, diagnosed on basis clinical history, morphological data, CT changes response to glucocorticoid (GC) therapy. Information about OP children limited due insufficient number cases described observed. The purpose this research was establish epidemiological characteristics, etiological structure, semiotics children, characterize its...
Introduction. Brain–lung–thyroid syndrome (BLTS, choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction) is an autosomal dominant disorder associated mutations of the NKX2-1 gene. A triad symptoms from three organs (brain, lungs, thyroid gland) manifested in 50% patients, other cases there incomplete phenotype disease. The most common manifestations are neurological. aim study was to provide genetic, clinical, laboratory, instrumental characteristics BLTS...
Background. Primary ciliary dyskinesia (PCD) is an orphan disease, and diagnosis difficult because there no gold standard for diagnosis. Aim. Clinical, laboratory-instrumental, genetic characteristics of PCD in children. Materials methods. From 2009 to 2024, 31 patients with a genetically confirmed were observed as part multicenter, open-ended, descriptive pilot longitudinal study. Examination methods: clinical anamnestic method; X-ray examination computed tomography the chest organs...
Background. Primary ciliary dyskinesia (PCD) is an orphan disease, and diagnosis difficult because there no gold standard for diagnosis. Aim. Clinical, laboratory-instrumental, genetic characteristics of PCD in children. Materials methods. From 2009 to 2024, 31 patients with a genetically confirmed were observed as part multicenter, open-ended, descriptive pilot longitudinal study. Examination methods: clinical anamnestic method; X-ray examination computed tomography the chest organs...
Cough in childhood is one of the most common reasons for and symptoms when contacting a pediatric physician. Chronic (lasting over four weeks) wet/productive cough particular diagnostic difficulty it caused by protracted bacterial bronchitis (PBB). The purpose this research was to study etiology, clinical options, X-ray semiotics comorbid diseases children with PBB. Materials methods used: observation analysis case histories 76 aged starting 4.5 months up 16 years old PBB were carried out...
Aim: Genetic, clinical, laboratory-instrumental and morphological characteristics of genetic dysfunctions the surfactant system in children, therapy outcomes disease. Design: Multicentre, ambispective, open-label, descriptive pilot longitudinal study. Materials methods. We observed 17 children from 16 families with identified mutations SFTPC, ABCA3, NKX2-1 genes. Methods used: genealogical, Sanger sequencing, clinical exome computed tomography histological examination lungs. Results. The...
Neuroendocrine cell hyperplasia of infancy (NEHI) is an interstitial lung disease unknown etiology that develops in the first year life and manifests itself as persistent tachypnea syndrome. The aim study was to determine diagnostic value clinical scale for diagnosis NEHI comparison with computed tomography (CT) data chest organs differential acute bronchiolitis (AB)/community-acquired pneumonia (CAP). Materials methods research: a multicenter case-control children aged 21 days 12 months...