A5047413049- Connective tissue disorders research
- Bone fractures and treatments
- Neurogenetic and Muscular Disorders Research
- Cerebral Palsy and Movement Disorders
- Hip disorders and treatments
- Foot and Ankle Surgery
- Orthopedic Surgery and Rehabilitation
- Lysosomal Storage Disorders Research
- Botulinum Toxin and Related Neurological Disorders
- Bone health and treatments
- Lower Extremity Biomechanics and Pathologies
- Bone Metabolism and Diseases
- Musculoskeletal Disorders and Rehabilitation
- Medical and Biological Sciences
- Spinal Dysraphism and Malformations
- Nerve Injury and Rehabilitation
- Shoulder Injury and Treatment
- Diabetic Foot Ulcer Assessment and Management
- Congenital limb and hand anomalies
- Hedgehog Signaling Pathway Studies
- RNA modifications and cancer
- Bone Tumor Diagnosis and Treatments
- Genomics and Rare Diseases
- Cardiomyopathy and Myosin Studies
- Bone and Joint Diseases
National Kyushu Medical Center
2020-2024
North-Western State Medical University named after I.I. Mechnikov
2020-2024
Ministry of Health of the Russian Federation
2014-2024
The Turner Scientific Research Institute for Children's Orthopedics
2015-2024
Center for Children
2020-2024
Children's Hospital
2024
Research Centre for Medical Genetics
2023
National Defence Medical Centre
2021
Orthopedic Institute
2016
BACKGROUND: Ankle joint and foot injuries are the most common type of musculoskeletal trauma in children. Their mechanism injury mainly determines pattern damage. AIM: To optimize diagnosis treatment inversion ankle children assess their association with sports participation comorbidities. METHODS: Outpatient medical records patients treated at consultative diagnostic department between 2014 2023 were analyzed. Overall, 1518 cases involving determined, including 111 referred a preliminary...
There are several types of metaphyseal chondrodysplasia and various clinical have been differentiated. The Schmid type is the most common. Diffuse flaring, irregularity, growth plate widening, which severe in knees, striking radiological features this disease. dysostosis characterized by failure normal mineralization zone provisional calcification, leading to widened physes enlarged knobby metaphyses, effectively causing shortening tubular bones, splaying coxa vara, bow legs. Orthopaedic...
The clinical presentation, phenotypic characterization and natural history of fibrodysplasia ossificans progressiva (FOP) are diverse the disease is, to a certain extent, different from one patient another.In series 11 patients (eight girls three boys, aged 0 - 16 years), variable presentations were landmarks these patients. At birth, all our manifested short great toes in valgus position. Marfan syndrome was suggested diagnosis children 3 8 years two pre-adult Clinical symptoms torticollis,...
Abstract Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, neck associated variable degrees of coxa vara. Cervical cord compression the most hazardous skeletal deformity in patients SEDC which requires special attention and management. Ten clinical radiographic phenotypes spondyloepiphyseal have been recognized genotype was compatible single base substitutions, deletions or duplication part COL2A1...
Lower extremity deformities of patients with arthrogryposis multiplex congenita present a wide spectrum severity and deformity combinations. Treatment goals range from merely ensuring comfortable seating shoe wear, to fully independent active ambulation, but the overarching intention is help realize patient's greatest potential for independence function. hip knee contractures dislocations has become more interventional, whereas treatment foot paradoxically much less surgical. This article...
Calvarial doughnut lesions (CDL) with bone fragility or without spondylometaphyseal dysplasia (MIM: #126550) is a rare autosomal dominant skeletal disorder characterized by low mineral density, spinal and peripheral fractures, specific sclerotic of the cranial bones. In current classification disorders, disease included in group disorders along osteogenesis imperfecta. The caused pathogenic variants SGMS2 gene, protein product which sphingomyelin synthase 2, primarily contributes to (SM)...
This study is aimed at investigating the clinical and genetic characteristics of 244 unrelated probands diagnosed with multiple osteochondromas (MO). The diagnosis MO typically involves identifying benign bone tumors known as (OCs) through imaging studies physical examinations. However, cases both OCs enchondromas (ECs) may indicate more rare condition metachondromatosis (MC), which assumed to be distinct disease. Previous cohort found heterozygous loss-of-function (LoF) variants only in...
Cleidocranial dysplasia is an autosomal dominant disorder characterized by defective ossification of the intramembraneous (primarily clavicles, cranium, and pelvis), it caused mutations in RUNX2 gene that responsible for osteoblast differentiation. Spine deformities were progressive nature considered to be major orthopedic abnormalities encountered our practice patients with cleidocranial dysplasia. We aimed further delineate underlying spine pathology its etiological understanding....
The origin of contractures in spastic forms cerebral palsy (CP) is unclear. Tomorrow the early appearance and persistence spasticity are not qualified as main reason growths disturbances, musculo-skeletal system deformations secondary orthopedic complications. latest investigations have shown prominent changes muscles on different structural levels stages muscle development. This study describes histological, morphological, biomechanical that play a pathophysiological role formation CP...
Objective Accurate understanding of the cause underlying pathology in children with diastrophic dysplasia would help designing targeted management their locomotion. Methods Diastrophic was diagnosed twelve patients (nine girls and three boys; age range 1–14 years), all whom presented small stature apparent short extremities. Club foot (mostly talipes equinovarus) most frequent consistent abnormality. Concomitant abnormalities such as hip flexion contracture, contractures knees excessive...
The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a and genetic analysis individual nosological variants, which will contribute improving our understanding pathogenetic mechanisms prognosis. We presented characteristics 60 Russian pediatric patients with type II collagenopathies caused by previously described newly identified variants COL2A1 gene. Diagnosis confirmation was carried out new generation sequencing...
Objective Developmental abnormalities of the appendicular skeleton are among most common and easily identified birth defects. The aim this report was to describe phenotypic characterization several patients with thrombocytopenia‐absent radius ( TAR ) syndrome orthopaedic interventions performed on them. is inherited in an autosomal recessive manner results from compound heterozygosity RBM8A mutations. Methods Reconstructions were designed five syndrome, mainly comprising correct their upper...
BACKGROUND: In children, injuries are the focus of attention both for increasing incidence and necessity pain management, can be indicate severity or serious complications that worsens treatment results. Despite obvious problem, information available in literature regarding theoretical practical aspects acute children is often contradictory needs to systematized. AIM: To present current about epidemiology, physiology, diagnosis, pediatric orthopedic trauma specialists. MATERIALS AND METHODS:...
We report a case of patient with de novo germline heterozygous truncating variant CTNNB1 gene (c.2172del, p.Tyr724Ter) causing neurodevelopmental disorder spastic diplegia and visual defects syndrome (NEDSDV) associated new clinical feature — severe pediatric-onset osteoporosis multiple fractures. A functional effect the identified was demonstrated using adipose-tissue derived primary mesenchymal stem cells, where we detected alteration CTNNB1mRNA β-catenin protein levels real-time PCR...
To further investigate the underlying pathology of axial and appendicular skeletal abnormalities such as painful spine stiffness, gait abnormalities, early onset osteoarthritis patellar instability in patients with Stickler syndrome type I. Radiographic tomographic analyses were organized.From a series followed from life to late childhood. Ten (6 boys four girls different ethnic origins consistent diagnosis I ). Phenotypic characterization was baseline tool applied for all genotypic...
Spasticity treatment is one of the key aspects contemporary cerebral palsy (CP) rehabilitation that influences on effectiveness other methods. The paper presents first Russian document unites recommendations for BTA CP and could be used as guideline multilevel injections. consensus botulinum toxin A (BTA) spastic based international data results national studies. authors describe typical spasticity patterns in upper lower extremities, give recommended intervals (Abobotulinum A) dosages whole...
Infantile systemic hyalinosis (ISH) is an autosomal recessively inherited disorder. The classical natural history of the disease characterised by hypotonia, multiple contractures, skin lesions, osteopenia, joint pain, bone fractures, persistent diarrhoea and growth deficiency.Two children manifested severe type ISH underwent genotypic confirmation. In order to identify which other family members have disease. We included siblings cousins in this study. baseline tool study subjects was based...
Pycnodysostosis (PD, OMIM # 265800) is a rare variant of skeletal dysplasia with an autosomal recessive type inheritance, characterized by combination specific features such as disproportionate nanism, generalized osteosclerosis, and distinct craniofacial dysmorphism. Radiographic include acro-osteolysis the distal phalanges in association sclerosing bone lesions multiple fractures. The polymorphism clinical manifestations pycnodysostosis low prevalence disorder lead to difficulties...
Multiple epiphyseal dysplasias (MED) are a clinically and genetically heterogeneous group of skeletal with predominant lesion in the epiphyses tubular bones. Variants SLC26A2 gene cause their autosomal recessive form (rMED or MED type 4). The accumulation data regarding genotype−phenotype correlation can help diagnosis proper management these patients. aim this study was to survey clinical genetic characteristics 55 patients 4 caused by variants gene. Diagnosis confirmation carried out...
Flatfoot is one of the most common musculoskeletal conditions in daily practice pediatric orthopedists. Despite numerous studies, diagnostic criteria and principles management remain controversial. Flexible flatfoot - visually detectable decrease height longitudinal arch foot, which can be spontaneously corrected by active or passive motion not accompanied any contracture foot ankle. a benign condition normal for childhood. But this term also used to describe painful deformity with marked...
научный биометрический журнал, который знакомит читателя с клиническими рекомендациями и особенностями применения лекарственных вакцинных средств у детей, предоставляет исчерпывающую информацию о воздействии на плод, проводимых в