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Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome.

Costello syndrome (CS), a rare syndrome with multisystemic involvement inherited as a dominant trait, is characterized by developmental delay, coarse facial appearance, cardiac defects including hypertrophic cardiomyopathy, skin abnormalities, brain complications, and a predisposition to certain malignancies. The musculoskeletal system is particularly affected in CS, with peculiar orthopedic anomalies that impact posture and gait. Dystonia has been recently documented to contribute to abnormal postures and musculoskeletal anomalies characterizing CS, suggesting the possible use of pharmacologi…

Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins.

Acromelic dysplasias are a group of rare musculoskeletal disorders that collectively present with short stature, pseudomuscular build, stiff … ct and form an "acromelic dysplasia complex" on fibrillin microfibrils in connective tissues of the musculoskeletal system.

Ethics in musculoskeletal regenerative medicine; guidance in choosing the appropriate comparator in clinical trials.

BACKGROUND: Regenerative Medicine (RM) techniques aimed at the musculoskeletal system are increasingly translated to clinical trials and patient care. This revolutionary era in science raises novel ethical challenges. One of these challenges concerns the appropriate choice of the comparator in (randomized controlled) trials, including the ethically contentious use of sham procedures. To date, only general guidelines regarding the choice of the comparator exist. OBJECTIVE: To provide specific guidelines for clinical trial comparator choice in musculoskeletal RM. METHODS: In this manuscript, w…

Optimising musculoskeletal care for patients with haemophilia.

Despite recent improvements in the quality of care and treatment outcomes for haemophilia, joint disease remains a major concern for patients with and without inhibitors. Most bleeding episodes occur in the musculoskeletal system, and recurrent bleeding may result in progressive joint damage, leading to haemophilic arthropathy. Consequently, early identification and management of musculoskeletal bleeding episodes are important to prevent crippling deformities and dysfunction. Management strategies should aim at optimising joint function by reducing the frequency of, and preventing, joint bleed…

Disparities in Musculoskeletal Oncology.

Purpose of reviewDisparities within the healthcare system serve as barriers to care that lead to poor outcomes for patients. These healthcare disparities are present in all facets of medicine and extend to musculoskeletal oncology care. There are various tenets to health disparities with some factors being modifiable and non-modifiable. The factors play a direct role in a patient's access to care, time of presentation, poor social determinants of health, outcomes and survival.Recent findingsIn musculoskeletal oncologic care, factors such as race, socioeconomic factors and insurance status are

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… Lastly, soft tissue sarcomas impact the musculoskeletal system significantly, and those of the head and neck in particular are extensively represented in social determinants of health research [ 26 ]. …

Small extracellular vesicles from mesenchymal stromal cells: the next therapeutic paradigm for musculoskeletal disorders.

Musculoskeletal disorders are one of the biggest contributors to morbidity and place an enormous burden on the health care system in an aging population. Owing to their immunomodulatory and regenerative properties, mesenchymal stromal/stem cells (MSCs) have demonstrated therapeutic efficacy for treatment of a wide variety of conditions, including musculoskeletal disorders. Although MSCs were originally thought to differentiate and replace injured/diseased tissues, it is now accepted that MSCs mediate tissue repair through secretion of trophic factors, particularly extracellular vesicles (EVs).

Emergence of Musculoskeletal Ultrasound Use in Pediatric Rheumatology.

PURPOSE OF REVIEW: To summarize recent international efforts on standardization and validation of pediatric musculoskeletal ultrasound and determine its role in diagnosis and monitoring of disease in pediatric rheumatology. RECENT FINDINGS: Over the past decade, significant progress has been made on building the evidence base for musculoskeletal ultrasound in pediatric rheumatology. This includes the clear definition of the sonographic appearance of the normal pediatric joint and enthesis on ultrasonography, definitions for pathology, and the establishment of a specific scoring system for the

Musculoskeletal infections associated with Citrobacter koseri.

Introduction Citrobacter koseri is a well known cause of central nervous system infections in the paediatric setting. Musculoskeletal infections caused by C koseri are rare, with only 14 previously reported cases. We present the first recorded case of C koseri induced septic arthritis of the knee along with a review of the literature. Methods A search of the PubMed, Embase(®) and Google Scholar™ databases was undertaken. Only complete or near complete cases were reviewed. Findings Fourteen musculoskeletal infections were identified. Of these, five were associated with an operative procedure an

The musculoskeletal loading profile of the thumb during pipetting based on tendon displacement.

Strong evidence indicates that highly repetitive manual work is associated with the development of upper extremity musculoskeletal disorders (MSDs). One of the occupational activities that involves highly repetitive and forceful hand work is manual pipetting in chemical or biological laboratories. In the current study, we quantified tendon displacement as a parameter to assess the cumulative loading exposure of the musculoskeletal system in the thumb during pipetting. The maximal tendon displacement was found in the flexor pollicis longus (FPL) tendon. Assuming that subjects' pipetting rates w…

Ultrasound in the study of soft tissue infections.

Musculoskeletal ultrasound is a safe and easily accessible imaging technique that allows the study of suspected infections of the musculoskeletal system. Although no finding is specific to these types of processes, certain synovial characteristics may suggest an infectious process rather than a non-infectious inflammatory condition. The role of ultrasound in this group of diseases is also to facilitate the extraction of synovial fluid for microbiological study. Ultrasound-guided synovial tissue biopsy is a minimally invasive, feasible, safe, and well-tolerated procedure that provides high-qual…

Bone From Blood: Characteristics and Clinical Implications of Circulating Osteogenic Progenitor (COP) Cells.

Circulating osteogenic progenitor (COP) cells are a population of cells in the peripheral blood with the capacity for bone formation, as well as broader differentiation into mesoderm-like cells in vitro. Although some of their biological characteristics are documented in vitro, their role in diseases of the musculoskeletal system remains yet to be fully evaluated. In this review, we provide an overview of the role of COP cells in a number of physiological and pathological conditions, as well as identify areas for future research. In addition, we suggest possible areas for clinical utilization …

Radiographic presentation of musculoskeletal involvement in Werner syndrome (adult progeria).

Werner syndrome (i.e., adult progeria) is a rare autosomal recessive disorder caused by mutations of the WRN gene, which is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Patients with Werner syndrome can present with musculoskeletal complaints, associated with suggestive radiographic features with a potential prognostic or therapeutic impact. This review illustrates the main radiographic features of Werner syndrome, focusing on the musculoskeletal system, such as soft-tissue calcification, muscular atrophy, osteoporosis, foot defo…

Musculoskeletal complications of neuromuscular disease in children.

A wide variety of neuromuscular diseases affect children, including central nervous system disorders such as cerebral palsy and spinal cord injury; motor neuron disorders such as spinal muscular atrophy; peripheral nerve disorders such as Charcot-Marie-Tooth disease; neuromuscular junction disorders such as congenital myasthenia gravis; and muscle fiber disorders such as Duchenne's muscular dystrophy. Although the origins and clinical syndromes vary significantly, outcomes related to musculoskeletal complications are often shared. The most frequently encountered musculoskeletal complications o

Thick lips, bumpy tongue, and slipped capital femoral epiphysis--a deadly combination.

Multiple endocrine neoplasia type 2b (MEN 2b) is a rare genetic disorder. Affected individuals have malignant thyroid tumors, pheochromocytoma, and ganglioneuromatosis. The musculoskeletal manifestations of MEN 2b include a Marfanoid habitus, pes cavus, scoliosis, slipped capital femoral epiphysis, joint laxity, poor muscle development, and delayed maturation. The initial clinical presentation of MEN 2b frequently involves the musculoskeletal system. The characteristics ganglioneuromatosis of the lips and tongue, however, should alert the orthopedic surgeon to the underlying disorder. Effectiv…

Renal manifestations of brucellosis: a case report.

BACKGROUND: Brucellosis is one of the most prevalent zoonotic diseases worldwide, posing a significant public health concern across both developed and developing nations. While musculoskeletal system involvement is the most common form of focal brucellosis, the genitourinary system represents the second most affected site. However, Brucella-related kidney involvement remains a rare manifestation of genitourinary brucellosis. CASE PRESENTATION: We herein present the case of a 55-year-old Iranian male patient, initially admitted with symptoms indicative of osteoarticular brucellosis, who subseq…

Mechanisms of skeletal muscle-tendon development and regeneration/healing as potential therapeutic targets.

Skeletal muscle contraction is essential for the movement of our musculoskeletal system. Tendons and ligaments that connect the skeletal muscles to bones in the correct position at the appropriate time during development are also required for movement to occur. Since the musculoskeletal system is essential for maintaining basic bodily functions as well as enabling interactions with the environment, dysfunctions of these tissues due to disease can significantly reduce quality of life. Unfortunately, as people live longer, skeletal muscle and tendon/ligament diseases are becoming more common. Sa…

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.

Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WBP4 (WW Domain Binding Protein … shared abnormal splicing patterns, including enrichment for abnormalities of the nervous system and musculoskeletal system genes, suggesting that the overlapping differentially spliced genes are related to the common phenotypes of the probands. We conclude that biallelic variants in WBP4 cause a spliceosomopathy. Further functional studies are called for better understa …

Tendon injury: from biology to tendon repair.

Tendon is a crucial component of the musculoskeletal system. Tendons connect muscle to bone and transmit forces to produce motion. Chronic and acute tendon injuries are very common and result in considerable pain and disability. The management of tendon injuries remains a challenge for clinicians. Effective treatments for tendon injuries are lacking because the understanding of tendon biology lags behind that of the other components of the musculoskeletal system. Animal and cellular models have been developed to study tendon-cell differentiation and tendon repair following injury. These studie…

Lack of serologic evidence for an association between Cache Valley Virus infection and anencephaly and other neural tube defects in Texas.

We tested the hypothesis that Cache Valley Virus (CVV), an endemic North American bunyavirus, may be involved in the pathogenesis of human neural tube defects. This investigation followed a 1990 and 1991 south Texas outbreak of neural tube defects with a high prevalence of anencephaly and the demonstration in 1987 that in utero infection by CVV was the cause of outbreaks of central nervous system and musculoskeletal defects in North American ruminants. Sera from 74 women who gave birth to infants with neural tube defects in south Texas from 1993 through early 1995 were tested for CVV neutraliz

The impact of disruptive innovations in orthopaedics.

The US healthcare system is currently facing daunting demographic and economic challenges. Because musculoskeletal disorders and disease represent a substantial and growing portion of this healthcare burden, novel approaches will be needed to continue to provide high-quality, affordable, and accessible orthopaedic care to our population. The concept of "disruptive innovations," which has been studied and popularized by Harvard Business School Professor Clayton Christensen, may offer a potential framework for developing strategies to improve quality and control costs associated with musculoskel