CASE REPORT
Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes. However, within past decade the understanding of osteogenesis imperfecta etiology has changed as a result of genetics development. The majority of all cases is related to mutations in collagen genes whereas rare mostly recessive forms are related to mutations in genes encoding collagen post-translational modification. Mutations in SERPINF1 gene were chosen as molecular cause of osteogenesis imperfecta type VI in 2011. Thus the new pathophysiology of this disease was revealed. Children with osteogenesis imperfecta type VI have high-frequency of fractures despite the management with bisphosphonates because mineralized bone osteoid is considerably reduced.
EDITORIALS
REVIEW
Intestinal microbiota is the factor that identifies considerably the human health. The impact of the microbial factor on a child begins long before his birth. Children have certain features in forming of immune response and intestinal microbiocenosis even before birth. Decline in diversity of intestinal microbiota is common in children with allergic disease even during first months of life, before allergic pathology development. Capabilities for microbiota development adjustment are sufficiently restricted. However it is clinically proven that early (within the first hours of life) breastfeeding attachment, breastfeeding itself within at least first 6 months of life, the use of prebiotics in milk formulas as well as the use of probiotics can give positive results on allergy management. In this review we present results of recent metaanalyses and consensus papers of international medical communities about use of probiotics and prebiotics in prevention and treatment of allergic diseases. Despite great scientific and practical interest to this topic, authors of metaanalyses bring our attention to the lack of evidence-based clinical trials.
DEBATABLE ISSUES OF PHARMACOTHERAPY
One of the key issues in obstetric practice remains the lack or incompleteness of information on the teratogenicity of most drugs used by pregnant women. Uncertainty regarding teratogenic risks significantly affect the quality of information on drugs; nevertheless, counseling patients allows arriving at a more balanced solution regarding their risk in pregnancy. Determination of the most commonly taken drugs (prescription or OTC) in the first trimester of gestation and increase of knowledge on their embryofetal risks optimizes pharmacotherapy during pregnancy. Characteristics and epidemiological analysis of possible factors, including drugs, associated with the occurrence of congenital anomalies, are crucial for the development of prevention activities that have an impact on the incidence of defects.
RARE DISEASES
Relevance. Crouzon syndrome is a craniostenosis due to combination of cranial bones hypoplasia and premature ectocranial sutures fusion resulting in deformation of cerebral and facial cranium. Deformations of facial cranium are responsible for exophthalmos and corneoconjunctival xerosis and can lead to spontaneous eyeball dislocation. Clinical case description. The clinical case of bilateral eyeball dislocation in a patient (right eye at the age of 1 year 2 months, left — at 1 year 4 months) due to untimely original reconstructive surgery is presented. The blepharorrhaphy and osteotomy of cranio-orbital-zygomaxillary complex with installation of two distraction correction instruments on maxillary bone and two on frontal bone, distance osteogenesis, fronto-temporal region remodelling were performed at the age of 3 years 2 months. Conclusion. Crouzon syndrome is incurable illness that demands timely functional and cosmetic correction. Prognosis for this disease is unfavourable. These days the child is 8 years old: physical development delay and mental retardation progression as well as psychoneurological disorders are recorded.
For Pediatricians' Practice
Special award
FROM THE UNION OF PEDIATRICIANS OF RUSSIA
IN MEMORY OF
ISSN 2500-3089 (Online)