Olga Е. Agranovich
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View article: Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis
Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis Open
Arthrogryposis multiplex congenita (AMC) is a large group of congenital conditions characterized by joint contractures affecting two or more body areas. A part of AMC type is caused by heterozygous pathogenic variants in genes encoding sar…
View article: Ischemic stroke of the cervical spinal cord: a review and case report
Ischemic stroke of the cervical spinal cord: a review and case report Open
BACKGROUND: Ischemic spinal cord stroke is a rare condition, accounting for approximately 1% of all spinal cord strokes. The relevance of this publication is determined by the rarity of the condition, the complexity of differential diagnos…
View article: Stress fractures in upper extremities of athletes: a review
Stress fractures in upper extremities of athletes: a review Open
Stress (overuse) fractures of the upper extremities are a relatively uncommon condition typically observed in athletes. Due to their gradual onset, typically mild clinical symptoms, and sometimes unremarkable imaging findings, such injurie…
View article: Inversion injury of ankle joint and foot in children: association with sports participation and comorbidities (analysis based on medical information system data)
Inversion injury of ankle joint and foot in children: association with sports participation and comorbidities (analysis based on medical information system data) Open
BACKGROUND: Ankle joint and foot injuries are the most common type of musculoskeletal trauma in children. Their mechanism of injury mainly determines the pattern of damage. AIM: To optimize the diagnosis and treatment of inversion injuries…
View article: Verbal fluency and semantic association deficits in children with in birth nonprogressive neuromuscular diseases
Verbal fluency and semantic association deficits in children with in birth nonprogressive neuromuscular diseases Open
Introduction The relationship between motor and cognitive skills is a pivotal issue in neuroscience, with embodied cognition theory asserting that bodily actions and experiences play a vital role in cognitive processing. This relevance is …
View article: Transcriptional Changes Associated with Amyoplasia
Transcriptional Changes Associated with Amyoplasia Open
Arthrogryposis, which represents a group of congenital disorders, includes various forms. One such form is amyoplasia, which most commonly presents in a sporadic form in addition to distal forms, among which hereditary cases may occur. Thi…
View article: Updated and revised Russian consensus on the use of multilevel injections of abobotulinumtoxin A in children
Updated and revised Russian consensus on the use of multilevel injections of abobotulinumtoxin A in children Open
One of the modern components of complex rehabilitation of patients with spasticity is the use of botulinum toxin type A (BTA) preparations. International experience with the use of botulinum therapy in children spans more than 30 years. Ab…
View article: Transient brachial plexopathy in adults and children: a literature review
Transient brachial plexopathy in adults and children: a literature review Open
BACKGROUND: Transient brachial plexopathy such as burner or stinger syndrome is a mild injury of the brachial plexus caused by forced movements of the arm or cervical spine, less often by direct impact of a traumatic factor in the supracla…
View article: Innervation of bones. Sensory innervation. Part I: a literature review
Innervation of bones. Sensory innervation. Part I: a literature review Open
BACKGROUND: Bone remodeling is a complex multifactorial process regulated by endocrine, paracrine, and mechanical factors. Nearly two decades ago, research showed that the nervous system is also involved in regulating bone remodeling. Howe…
View article: Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the PLOD2 Gene
Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the PLOD2 Gene Open
Bruck syndrome is a rare autosomal recessive disorder characterized by increased bone fragility and joint contractures similar to those in arthrogryposis and is known to be associated with mutations in the FKBP10 (FKBP prolyl isomerase 10)…
View article: The importance of brain mapping for rehabilitation in birth nonprogressive neuromuscular diseases
The importance of brain mapping for rehabilitation in birth nonprogressive neuromuscular diseases Open
While motor mapping has been extensively studied in acquired motor conditions, a lack has been observed in terms of research on neurological disorders present since birth, with damage to the spinal cord and peripheral nerves (hence, define…
View article: Clinical and radiological variants of the nail–patella syndrome: Why is it important to make a correct diagnosis?
Clinical and radiological variants of the nail–patella syndrome: Why is it important to make a correct diagnosis? Open
BACKGROUND: Nail–patella syndrome is an autosomal dominant disease caused by LMX1B mutations, characterized by a combination of dermatological and musculoskeletal abnormalities. The classic tetrad of the nail–patella syndrome includes hypo…
View article: Dynamics of feet dorsiflexion after percutaneous Achilles lengthening for correction of flat feet in children
Dynamics of feet dorsiflexion after percutaneous Achilles lengthening for correction of flat feet in children Open
BACKGROUND: Achilloplasty is one of the most common procedures in the reconstruction of various foot deformities. Achilles tendon lengthening is often used in most reconstructive interventions in patients with flatfeet. Literature data ref…
View article: Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene
Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene Open
Pathogenic heterozygous variants in the PIEZO2 gene cause distal arthrogryposis type 5 – a rare autosomal dominant disease, which is characterized by the development of congenital contractures, ophthalmoparesis, ptosis and restrictive resp…
View article: Presentation of Rare Phenotypes Associated with the FKBP10 Gene
Presentation of Rare Phenotypes Associated with the FKBP10 Gene Open
Pathogenic variants in the FKBP10 gene lead to a spectrum of rare autosomal recessive phenotypes, including osteogenesis imperfecta (OI) Type XI, Bruck syndrome Type I (BS I), and the congenital arthrogryposis-like phenotype (AG), each wit…
View article: Poland–Mebius syndrome: A clinical case and review of the literature
Poland–Mebius syndrome: A clinical case and review of the literature Open
BACKGROUND: Currently, the eponym “Poland syndrome” has become a universal term for clinicians for all pectoral muscle developmental disorders with symbrachydactyly and without. Misinterpretation of the diagnosis in patients with pectoral …
View article: Archery injuries: A literature review
Archery injuries: A literature review Open
BACKGROUND: Archery is one of the oldest human skills that survived to the present day. At first, it was used for hunting and war and later became a sport. The interest in archery has grown annually. Each type of sport has specific injurie…
View article: Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients
Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients Open
A description of the clinical and genetic characteristics of four Russian patients with Schaaf–Yang syndrome, caused by previously described and newly identified nucleotide variants in MAGEL2 gene, is presented. It was shown that the most …
View article: Nerve transfer in children with acute flaccid myelitis for restoration of upper limb function (literature review)
Nerve transfer in children with acute flaccid myelitis for restoration of upper limb function (literature review) Open
The term “acute flaccid myelitis” is used to describe a condition characterized by acute flaccid paralysis of the limb, as well as damage to the motor neurons of the spinal cord. The absence of specific treatment, severe neurological defic…
View article: Neurostructural Consequences of Obstetric Brachial Plexus Palsy in Childhood
Neurostructural Consequences of Obstetric Brachial Plexus Palsy in Childhood Open
Background: Obstetric brachial plexus palsy (OBPP) is a condition impairing limb function caused by birth injury. In 20 to 30% of cases, severe OBPP can cause life constraints in feeding, grooming, and clothing tasks. Objective: The presen…
View article: Phenotypic variability in children with Bruck syndrome type 2: Clinical cases
Phenotypic variability in children with Bruck syndrome type 2: Clinical cases Open
BACKGROUND: Bruck syndrome is a rare disorder that features osteogenesis imperfecta, combined with severe congenital joint contractures often with pterygia, short stature, severe limb deformities, and progressive scoliosis. Its two forms, …
View article: Functional activity of the maxillofacial region muscles in children with arthrogryposis multiple congenita
Functional activity of the maxillofacial region muscles in children with arthrogryposis multiple congenita Open
BACKGROUND: Disorders of the maxillofacial region in children with аrthrogryposis multiplex congenita can be congenital or occur as secondary changes. The lower jaw and associated muscles play important roles in the functioning and develop…
View article: <i>PIEZO2</i> gene and its role in the development of distal arthrogryposis: A literature review
<i>PIEZO2</i> gene and its role in the development of distal arthrogryposis: A literature review Open
BACKGROUND:PIEZO1 and PIEZO2 are mechanosensitive ion channel proteins; in humans, they are encoded by genes with identical names. PIEZO proteins convert mechanical signals into biochemical cellular responses following transduction. Recent…
View article: Provision of speech therapy assistance and organization of education for children with obstetric palsy and arthrogryposis multiplex congenita with impaired upper limb function
Provision of speech therapy assistance and organization of education for children with obstetric palsy and arthrogryposis multiplex congenita with impaired upper limb function Open
BACKGROUND:The pathology of upper limb deformities often leads not only to impaired self-ability but may be one of the factors that lead to the development of specific difficulties inachild at various stages of learning. Deficiency of visu…
View article: Restoration of elbow active flexion in children with amyoplasia: What is the better age to do the operation?
Restoration of elbow active flexion in children with amyoplasia: What is the better age to do the operation? Open
BACKGROUND: The absence of active elbow flexion is the most common problem in children with amyoplasia, leading to daily living difficulties. Many variants of muscle transfer are used for the restoration of active elbow flexion. The pector…
View article: Footprint analysis in flatfoot assessment
Footprint analysis in flatfoot assessment Open
BACKGROUND: A flatfoot is the most common condition in the practice of a pediatric orthopedist. A flatfoot is primarily diagnosed based on the assessment of the degree of the foot flattening. Along with clinical examination, footprint anal…
View article: Similar Cognitive Skill Impairment in Children with Upper Limb Motor Disorders Due to Arthrogryposis Multiplex Congenita and Obstetrical Brachial Plexus Palsy
Similar Cognitive Skill Impairment in Children with Upper Limb Motor Disorders Due to Arthrogryposis Multiplex Congenita and Obstetrical Brachial Plexus Palsy Open
Arthrogryposis multiplex congenita (AMC) and obstetrical brachial plexus palsy (OBPP) are motor disorders with similar symptoms (contractures and the disturbance of upper limb function). Both conditions present as flaccid paresis but diffe…
View article: Speech development in children with sequelae of obstetrics palsy
Speech development in children with sequelae of obstetrics palsy Open
BACKGROUND: Obstetrics plexus occurs in 0.44 cases per 1000 newborns. Moreover, 70%92% of the patients have mild injuries that spontaneously recover within 2 months after delivery, and the remaining patients have secondary deformities of t…
View article: Similar Cognitive Skill Impairment in Children with Upper Limb Motor Disorders Due to Arthrogryposis Multiplex Congenita and Obstetrical Brachial Plexus Palsy
Similar Cognitive Skill Impairment in Children with Upper Limb Motor Disorders Due to Arthrogryposis Multiplex Congenita and Obstetrical Brachial Plexus Palsy Open
Cognitive function, arthrogryposis, obstetrics palsy, children, motor disorder
View article: Altered Cerebral Processing of Videos in Children with Motor Dysfunction Suggests Broad Embodiment of Perceptual Cognitive Functions
Altered Cerebral Processing of Videos in Children with Motor Dysfunction Suggests Broad Embodiment of Perceptual Cognitive Functions Open
Embodied cognition theory suggests that motor dysfunctions affect cognition. We examined this hypothesis by inspecting whether cerebral processing of movies, featuring both goal-directed movements and content without humans, differ between…