4 research outputs found
Orthopedic Pathology in Children with Mucopolysaccharidosis Type I
No full textMucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the lysosomes and further multiple organ dysfunction. This severe genetic progressive disease can be detected at an early age by skeletal deformities and phenotypic data. Early enzyme replacement therapy and/or bone marrow transplantation can slow down irreversible damages to various organs and systems or reduce their severity and improve the quality of life for a child
RESTORATIVE TREATMENT OF ORTHOPEDIC PATIENTS IN A MODERN REHABILITATION CENTER
No full textThe rehabilitation of patients after surgery is an integral part of treatment in modern medicine. Restorative treatment is a complex of measures which includes participation of different medical specialists. The goal of child post-surgery rehabilitation is the restoration of physical and social adaptation of the patient. This article covers the main principles of restorative treatment in a multi-profile children’s medical institution. Examples of child rehailitation after reconstructive surgery of most frequent orthopedic pathologies are included
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
No full textThe blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in thirteen individuals, including four fetuses, from eight unrelated families associated with homozygous loss-of-function variant alleles of ESAM which encodes an endothelial cell adhesion molecule. The c.115del (p.Arg39Glyfs∗33) variant, identified in six individuals from four independent families of Southeastern Anatolia, severely impaired the in vitro tubulogenic process of endothelial colony-forming cells, recapitulating previous evidence in null mice, and caused lack of ESAM expression in the capillary endothelial cells of damaged brain. Affected individuals with bi-allelic ESAM variants showed profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses. Phenotypic traits observed in individuals with bi-allelic ESAM variants overlap very closely with other known conditions characterized by endothelial dysfunction due to mutation of genes encoding tight junction molecules. Our findings emphasize the role of brain endothelial dysfunction in NDDs and contribute to the expansion of an emerging group of diseases that we propose to rename as “tightjunctionopathies.
ВОЗМОЖНОСТИ ВОССТАНОВИТЕЛЬНОГО ЛЕЧЕНИЯ ПАЦИЕНТОВ ОРТОПЕДИЧЕСКОГО ПРОФИЛЯ В УСЛОВИЯХ СОВРЕМЕННОГО РЕАБИЛИТАЦИОННОГО ЦЕНТРА
No full textThe rehabilitation of patients after surgery is an integral part of treatment in modern medicine. Restorative treatment is a complex of measures which includes participation of different medical specialists. The goal of child post-surgery rehabilitation is the restoration of physical and social adaptation of the patient. This article covers the main principles of restorative treatment in a multi-profile children’s medical institution. Examples of child rehailitation after reconstructive surgery of most frequent orthopedic pathologies are included.Реабилитация пациентов после оперативного лечения в современной медицине является неотъемлемой частью лечебного процесса. Восстановительное лечение — это комплекс мероприятий, включающий в себя участие врачей разных специальностей. Целью реабилитации детей в послеоперационном периоде является восстановление физической и социальной адаптации пациента. В статье изложены основные принципы восстановительного лечения в условиях многопрофильного детского медицинского учреждения. Приведены клинические примеры реабилитации детей после реконструктивных операций при наиболее распространенной ортопедической патологии.
