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Journal of Clinical Medicine Apr 2024The natural history of spinal muscular atrophy (SMA) is well understood, with progressive muscle weakness resulting in declines in function. The development of...
The natural history of spinal muscular atrophy (SMA) is well understood, with progressive muscle weakness resulting in declines in function. The development of contractures is common and negatively impacts function. Clinically, joint hypermobility (JH) is observed but is poorly described, and its relationship with function is unknown. Lower-limb ROM (range of motion) assessments of extension and flexion at the hip, knee, and ankle were performed. ROMs exceeding the published norms were included in the analysis. The functional assessments performed included the six-minute walk test (6 MWT) and the Hammersmith Functional Motor Scale-Expanded (HFMSE). Of the 143 participants, 86% ( = 123) had at least one ROM measure that was hypermobile, and 22% ( = 32) had three or more. The HFMSE scores were inversely correlated with hip extension JH (r = -0.60, = 0.21; = 6) and positively correlated with knee flexion JH (r = 0.24, = 0.02, = 89). There was a moderate, inverse relationship between the 6 MWT distance and ankle plantar flexion JH (r = -0.73, = 0.002; = 15). JH was identified in nearly all participants in at least one joint in this study. Hip extension, knee flexion and ankle plantar flexion JH was associated with function. A further understanding of the trajectory of lower-limb joint ROM is needed to improve future rehabilitation strategies.
PubMed: 38731167
DOI: 10.3390/jcm13092634 -
Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report.BMC Anesthesiology May 2024Bethlem Myopathy is a collagen VI-related myopathy presenting as a rare hereditary muscular disorder with progressive muscular weakness and joint contractures. Despite...
BACKGROUND
Bethlem Myopathy is a collagen VI-related myopathy presenting as a rare hereditary muscular disorder with progressive muscular weakness and joint contractures. Despite its milder clinical course relative to other myopathies, anaesthetic management can be challenging. High arched palates and fixed flexion deformities may contribute to a difficult airway. A progressive decline in pulmonary function can present later into adulthood. This respiratory decline can carry secondary cardiovascular consequences due to the progressive nature of restrictive lung disease, including right sided heart disease and pulmonary hypertension. We describe a case of a male patient with Bethlem Myopathy undergoing anaesthesia, to contribute to the limited body of literature on this condition and enhance awareness and guidance amongst anaesthesiologists on approaching patients with this condition. This is the first case report within the literature of its kind.
CASE PRESENTATION
This case details a 33-year-old male with Bethlem Myopathy undergoing tonsillectomy. Diagnosed in childhood following developmental delays, the patient had no prior anaesthetic exposure and no family history of anaesthetic complications. Anaesthetic induction was achieved without complications, avoiding depolarizing muscle relaxants and careful airway management. Extreme care was taken in patient positioning to prevent complications. The surgery proceeded without incident and muscle paralysis was reversed with Suggammadex, resulting in no adverse post-operative respiratory complications. The patient was discharged on the first post-operative day without any respiratory or cardiovascular compromise.
CONCLUSIONS
Bethlem Myopathy, while often exhibiting a mild clinical course, can present anaesthetic challenges. Awareness of potential complications including a difficult airway, cardiovascular and respiratory implications as well as the need for specialised monitoring and positioning is crucial to ensure a safe peri-operative course.
Topics: Humans; Male; Adult; Tonsillectomy; Anesthesia; Contracture; Elective Surgical Procedures; Muscular Dystrophies
PubMed: 38730355
DOI: 10.1186/s12871-024-02539-0 -
Cureus Apr 2024Background Knee osteoarthritis (KOA) is a prevalent degenerative disease that affects the knee joints, particularly among individuals aged over 40 years. It leads to...
Background Knee osteoarthritis (KOA) is a prevalent degenerative disease that affects the knee joints, particularly among individuals aged over 40 years. It leads to pain, stiffness, and reduced quality of life; affects approximately 300 million individuals worldwide; and is increasing, particularly in developed nations. Although treatments for KOA range from conservative measures to surgical interventions, such as total knee arthroplasty (TKA), the financial burden of TKA in many countries underscores the urgent need for effective conservative therapies. The pathophysiology of KOA involves articular cartilage degeneration, increased subchondral bone turnover, synovitis, and periarticular soft tissue contracture. Abnormal bone turnover, intensified by factors, such as weight gain and knee injury, precedes cartilage degeneration. Synovitis, characterized by inflammation in the synovial tissue, plays a crucial role in perpetuating the disease by triggering a cascade of catabolic and proinflammatory mediators, including cytokines, such as interleukin (IL)-1 beta, tumor necrosis factor-alpha, and IL-13. Periostin, an extracellular matrix protein, is implicated in KOA progression, with its levels increasing with disease severity. Materials & methods In this study, the preventive effect of boiogito (BOT), a traditional herbal medicine, on periostin secretion in human fibroblast-like synoviocytes (hFLS) stimulated by IL-13 was investigated. Synoviocyte Growth Medium and recombinant human IL-13 were used for cell culture and stimulation. BOT was dissolved in phosphate-buffered saline and applied to cell cultures. Periostin secretion and mRNA expression were measured using enzyme-linked immunosorbent assay and quantitative reverse transcription polymerase chain reaction, respectively. Cell viability was assessed using an MTT assay, and signal transducer and activator of transcription factor 6 (STAT6) phosphorylation was examined using Western blotting. Results IL-13 stimulation of hFLS significantly increased periostin secretion, with levels rising above 20 ng/mL after 72 h of stimulation. Pretreatment with BOT dose-dependently suppressed periostin secretion, with doses of 1,000 μg/mL significantly reducing periostin levels. Furthermore, BOT inhibited periostin mRNA expression and STAT6 phosphorylation in IL-13-stimulated hFLS, suggesting its potential in modulating IL-13-mediated inflammatory pathways in KOA. Conclusion This study demonstrated the preventive effect of BOT on periostin secretion in IL-13-stimulated hFLS, highlighting its potential as a therapeutic agent for KOA. By inhibiting periostin production and downstream signaling pathways, BOT may offer a promising conservative treatment option for KOA, addressing the inflammatory cascade implicated in disease progression. Further research is warranted to elucidate the specific herbal components responsible for the therapeutic effects of BOT and to validate its efficacy in clinical settings.
PubMed: 38711706
DOI: 10.7759/cureus.57690 -
Cureus Apr 2024A 52-year-old woman, with a multifaceted medical background encompassing spinal cord injury, pneumonia, and recurrent hospitalizations, presents with enduring left hip...
A 52-year-old woman, with a multifaceted medical background encompassing spinal cord injury, pneumonia, and recurrent hospitalizations, presents with enduring left hip and leg discomfort ultimately diagnosed as avascular necrosis (AVN). She previously underwent intraosseous direct anterior arthroplasty (DAA) of the left hip during the removal of orthopedic artifacts. Despite enduring hypertension, severe trochanter dislocation, and prosthesis fracture, she recovered and required additional surgery to address the dislocation and fracture. This case underscores the challenges in diagnosing and treating AVN, emphasizing the importance of meticulous postoperative care and a multidisciplinary approach. Challenges highlighted by AVN include delayed diagnosis, intricate surgical procedures, and the potential need for further interventions due to hardware complications and infection as seen in this patient.
PubMed: 38707141
DOI: 10.7759/cureus.57629 -
Spinal Cord Series and Cases May 2024Patients with spinal cord injury (SCI) and incomplete paralysis may experience muscle immobilization due to functional impairment of agonist and antagonist muscles. This...
INTRODUCTION
Patients with spinal cord injury (SCI) and incomplete paralysis may experience muscle immobilization due to functional impairment of agonist and antagonist muscles. This can induce spasticity and pain, with the risk of contracture increasing as the period of immobilization increases. This could be aggravated by pain, which interferes with rehabilitation. There is no established treatment for pain and joint contractures caused by acute SCI. Botulinum therapy plays a role in relieving muscle tension. Here, we report a case of acute SCI in which botulinum therapy was administered.
CASE PRESENTATION
The patient experienced a C5-cervical SCI due to a road traffic accident, with marked paralysis in the upper and lower limbs below the C5 level. The patient had persistent elbow flexion since the SCI and complained of excruciating pain, making adequate rehabilitation difficult. Botulinum toxin was administered to the biceps and brachialis muscles 15 days after the SCI. After administration, the patient experienced a reduction in pain with relaxation of the elbow flexor muscles, and rehabilitation treatment was resumed. This patient's contracture did not worsen, his pain decreased, and he was able to initiate self-feeding training.
DISCUSSION
In this case, occupational and physical therapy was administered with botulinum therapy. Together, they successfully reduced pain. Botulinum therapy provides analgesia and muscle relaxation and may lead to functional recovery, and we believe that treatment can be considered even in the acute phase.
Topics: Humans; Spinal Cord Injuries; Male; Upper Extremity; Neuromuscular Agents; Adult; Botulinum Toxins; Botulinum Toxins, Type A; Combined Modality Therapy
PubMed: 38704389
DOI: 10.1038/s41394-024-00647-0 -
Rhode Island Medical Journal (2013) May 2024Children with Hunter syndrome have a high prevalence of nerve compression syndromes given the buildup of glycosaminoglycans in the tendon sheaths and soft tissue...
BACKGROUND
Children with Hunter syndrome have a high prevalence of nerve compression syndromes given the buildup of glycosaminoglycans in the tendon sheaths and soft tissue structures. These are often comorbid with orthopedic conditions given joint and tendon contractures due to the same pathology. While carpal tunnel syndrome and surgical treatment has been well-reported in this population, the literature on lower extremity nerve compression syndromes and their treatment in Hunter syndrome is sparse.
OBSERVATIONS
We report the case of a 13-year-old male with a history of Hunter syndrome who presented with toe-walking and tenderness over the peroneal and tarsal tunnel areas. He underwent bilateral common peroneal nerve and tarsal tunnel releases, with findings of severe nerve compression and hypertrophied soft tissue structures demonstrating fibromuscular scarring on pathology. Post-operatively, the patient's family reported subjective improvement in lower extremity mobility and plantar flexion.
LESSONS
In this case, peroneal and tarsal nerve compression were diagnosed clinically and treated effectively with surgical release and postoperative ankle casting. Given the wide differential of common comorbid orthopedic conditions in Hunter syndrome and the lack of validated electrodiagnostic normative values in this population, the history and physical examination and consideration of nerve compression syndromes are tantamount for successful workup and treatment of gait abnormalities in the child with Hunter syndrome.
Topics: Humans; Male; Adolescent; Mucopolysaccharidosis II; Tarsal Tunnel Syndrome; Peroneal Neuropathies; Peroneal Nerve; Nerve Compression Syndromes
PubMed: 38687262
DOI: No ID Found -
Plastic Surgery (Oakville, Ont.) May 2024Postburn upper extremity contractures can greatly diminish the quality of life. To successfully manage these contractures and achieve successful functional outcomes, an...
Postburn upper extremity contractures can greatly diminish the quality of life. To successfully manage these contractures and achieve successful functional outcomes, an optimal surgical method should be planned to address all affected tissues on the extremities. Conventional soft tissue transfers after releasing the contracture, such as skin grafts or flaps, may be insufficient. In addition to capsulotomy, tendon release, and lengthening procedures, more aggressive modalities may be indicated. In this retrospective study, patients who developed wrist flexion deformities due to burn injuries and underwent proximal row carpectomy and abdominal interpolation flaps were included. Between January 2019 and June 2020, 5 patients underwent surgery using this technique. All patients were male, 2 had thermal burns, 2 had electrical burns, and 1 had chemical burns. Preoperatively, all patients had severe flexion deformities ranging from 70° to 85°. There were no postoperative complications, and stable wrists with a good and functional alignment were achieved, although the preoperative and postoperative range of motion differences were limited, where a postoperative range of motions were ranging from 5 to 15 in terms of extension, 15 to 20 in terms of flexion. Preoperative QuickDash scores were between 79.5 and 95.5, postoperative scores ranged from 25 to 36.4. Proximal row carpectomy shortens the length of the wrist, resurfaces the wrist joint, and provides a release in tendons and other soft tissues. Together with soft tissue transfer, this technique can be used for severe wrist flexion contractures.
PubMed: 38681246
DOI: 10.1177/22925503221107213 -
World Journal of Orthopedics Apr 2024Enzymatic fasciotomy with collagenase clostridium histolyticum (CCH) has revolutionized the treatment for Dupuytren's contracture (DC). Despite its benefits, the...
BACKGROUND
Enzymatic fasciotomy with collagenase clostridium histolyticum (CCH) has revolutionized the treatment for Dupuytren's contracture (DC). Despite its benefits, the long-term outcomes remain unclear. This study presented a comprehensive 10-year follow-up assessment of the enduring effects of CCH on patients with DC.
AIM
To compare the short-term (12 wk) and long-term (10 years) outcomes on CCH treatment in patients with DC.
METHODS
A cohort of 45 patients was treated with CCH at the metacarpophalangeal (MCP) joint and the proximal interphalangeal (PIP) joint and underwent systematic re-evaluation. The study adhered to multicenter trial protocols, and assessments were conducted at 12 wk, 7 years, and 10 years post-surgery.
RESULTS
Thirty-seven patients completed the 10-year follow-up. At 10 years, patients treated at the PIP joint exhibited a 100% recurrence. However, patients treated at the MCP joint only showed a 50% recurrence. Patient satisfaction varied, with a lower satisfaction reported in PIP joint cases. Recurrence exceeding 20 degrees on the total passive extension deficit was observed, indicating a challenge for sustained efficacy. Significant differences were noted between outcomes at the 7-year and 10-year intervals.
CONCLUSION
CCH demonstrated sustained efficacy when applied to the MCP joint. However, caution is warranted for CCH treatment at the PIP joint due to a high level of recurrence and low patient satisfaction. Re-intervention is needed within a decade of treatment.
PubMed: 38680672
DOI: 10.5312/wjo.v15.i4.355 -
Annals of Burns and Fire Disasters Sep 2023Burn injury and consequent contracture is not a new problem for humans. It is severely disabling for the patients, especially if it involves a large joint like the knee....
Burn injury and consequent contracture is not a new problem for humans. It is severely disabling for the patients, especially if it involves a large joint like the knee. The objective of the study was to evaluate the usefulness of the gastrocnemius flap and improvement in knee joint function following the use of the flap in post-burn flexion knee contracture. This prospective study was performed from January 2016 to December 2017. Twenty-five patients with flexion knee contracture were treated with incisional or excisional release of contracture and coverage with gastrocnemius muscle flap. The post operative improvement in knee function was evaluated. There was improvement in range of motion of the knee in all the operated patients and the patients were able to maintain unassisted bipedal locomotion. There was no flap loss in any case. In post-burn knee contracture with limited local fascio cutaneous flap options, gastrocnemius flap gives very good functional and aesthetic outcome with no major complication.
PubMed: 38680430
DOI: No ID Found -
JBJS Case Connector Apr 2024A 13-year-old adolescent boy with hemiplegic cerebral palsy suffering from fixed knee flexion deformity of 10° despite extensive conservative treatment. Owing to a...
CASE
A 13-year-old adolescent boy with hemiplegic cerebral palsy suffering from fixed knee flexion deformity of 10° despite extensive conservative treatment. Owing to a posterior tibial slope (PTS) of 16°, anterior hemiepiphysiodesis was applied to the proximal tibia. The 2 screws were removed after 9 months. Final follow-up at 16 months showed complete knee extension and a PTS of 4°.
CONCLUSION
The presented technique is a good alternative in knee flexion deformity with an increased PTS and has surprisingly not been described in the literature. This might be worth considering for other pathologies such as pediatric anterior cruciate ligament injury with an increased PTS.
Topics: Humans; Male; Adolescent; Tibia; Bone Screws; Knee Joint; Cerebral Palsy; Contracture; Epiphyses
PubMed: 38669444
DOI: 10.2106/JBJS.CC.23.00680