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Cureus Apr 2024Neuroepithelial tumors known as ependymomas can develop from cortical rests, the central canal of the spinal cord, or the ependymal cells of the cerebral ventricles....
Neuroepithelial tumors known as ependymomas can develop from cortical rests, the central canal of the spinal cord, or the ependymal cells of the cerebral ventricles. Ependymomas may arise anywhere along the neuraxis. Here, we present a 40-year-old male, a known case of grade II ependymomas, with a chief complaint of bilateral lower limb weakness and loss of sensation in the bilateral lower limb for 20 days. He started facing difficulties in performing activities such as walking, toileting activities, and squatting activities. The physiotherapy (PT) rehabilitation of the patient was tailored to achieve functional independence of the patient. The treatment session lasted for six weeks. Several outcome indicators were employed to evaluate our patient's progress toward functional recovery. Outcomes are measured using the Tone Grading Scale (TGS), the American Spinal Injury Association (ASIA) Impairment Scale, the World Health Organization Quality of Life (WHOQOL), manual muscle test, and the Barthel Index. Outcome measures were assessed on day one of treatment and the last day of the PT treatment. The patient's preliminary involvement in PT supported him to prevent serious complications like joint contractures and bed sores. Physical therapy is one of the most important parts of the rehabilitation practice for spinal cord injury (SCI) patients.
PubMed: 38784337
DOI: 10.7759/cureus.58809 -
Cureus Apr 2024Hallux valgus (HV) is a relatively frequent disease caused by a complicated structural malformation of the primary ray. The bunion or middle projection generated by the... (Review)
Review
Hallux valgus (HV) is a relatively frequent disease caused by a complicated structural malformation of the primary ray. The bunion or middle projection generated by the hallux's lateral displacement and pronation is merely one element of the three-dimensional abnormality. HV may trigger severe discomfort and affect joint kinematics. The specific kinematic cause is still unknown. Female age, gender, restrictive footwear, and heritage are risk indicators. HV frequently coexists along metatarsal adducts, equines contracture, hammertoe imperfection, and pes planus. HV is a frequent foot ailment with multiple, complicated, unknown etiology and course. HV has a preference for females. It is an ongoing condition for which there is no known treatment to reduce or prevent improvement. Fibrodysplasia ossificans progressiva (FOP) is distinguished by hereditary symmetrical HV deformities or symptoms that begin heterotopic calcification that is either idiopathic or caused by trauma, such as subcutaneous immunizations. Localized heterotopic calcification may be preceded by aggravating, recurring soft-tissue enlargements (flare-ups). Heterotopic calcification may happen anywhere; however, it most commonly impacts locations near the axial bone structure during the early/mild phases until advancing to the appendicular skeleton. As an effect of calcification affecting the flexibility of the joints, it might cause limitations in motion. The initial line of therapy focuses on non-surgical methods including night splinting, orthotics, and larger shoes. The next suggested line of action is surgical intervention if conservative therapy fails. Patients have good postoperative tolerance, and bone union often happens six to seven weeks after surgery. Stretching exercises help to restore function by extending shortened soft tissue and restoring range of motion (ROM). The goal of joint mobilization, a form of manual treatment method, is to extend the ligament, the soft tissue surrounding the limited joint, and the restricting joint capsule by applying modest amplitude passive movement to the joint components.
PubMed: 38779237
DOI: 10.7759/cureus.58750 -
Frontiers in Nutrition 2024Emery-Dreifuss muscular dystrophy (EDMD) is a rare, inherited human disease. Similar to other neuromuscular dystrophies, EDMD is clinically characterized by muscle...
Emery-Dreifuss muscular dystrophy (EDMD) is a rare, inherited human disease. Similar to other neuromuscular dystrophies, EDMD is clinically characterized by muscle atrophy and weakness, multi-joint contractures with spine rigidity, and cardiomyopathy. Over time, muscular weakness can lead to dysphagia and a severe lowering of body mass index (BMI), worsening the prognosis. We present the case of a young male patient affected by EDMD, admitted to the hospital for pneumothorax in a severe state of undernourishment. The patient was treated with total parenteral nutrition (TPN) with Smofkabiven®, supplemented with micronutrients (vitamins and trace elements), and with minimal enteral nutrition through food. Within a year, the patient gained 8.5 kg and kept his body weight stable for the 6 years of the follow-up. In this study, we show that TPN ensures the nutritional requirements of EDMD patients in a safe and well-tolerated manner, allowing a considerable and stable improvement in nutritional status, which has a positive impact on the disease itself and the patients' quality of life.
PubMed: 38742022
DOI: 10.3389/fnut.2024.1343548 -
Archives of Plastic Surgery May 2024Dupuytren's disease decreases quality of life significantly and often requires surgical treatment, nevertheless there is no actual gold standard. The aim of this...
Dupuytren's disease decreases quality of life significantly and often requires surgical treatment, nevertheless there is no actual gold standard. The aim of this study was to introduce the use of minimally invasive pull-through technique. From 2016 to 2020, 52 patients suffering from Dupuytren's contracture were treated with the minimally invasive pull-through technique. We evaluated the improvement in range of motion, pain, disability, and quality of life in the long term. Total extension deficit, quick disabilities of the arm, shoulder, and hand (QuickDASH), and EuroQol five dimensions-five levels index were systematically scored before each surgical intervention and reevaluated after 24 months. Fourteen patients (26.9%) had already received a previous intervention (percutaneous needle aponeurotomy or collagenase ). The mean preoperative total active extension deficit was 84.0 ± 23.3 degrees (55-130 degrees). Mean follow-up was 36 months. There were no cases of tendon rupture or neurovascular injury. Total active extension deficit at the final follow-up was 3.4 ± 2.3 degrees (0-12 degrees). The mean active range of motion of the MCP and PIP joints were, respectively, 90.5 ± 3.3 degrees (85-96 degrees) and 82.7 ± 2.5 degrees (80-87 degrees). At 24 months after cord excision, a mean 10.7 points improvement in the QuickDASH questionnaire was registered ( < 0.001). Pull-through technique was equally effective both on patients with a primary or a recurrent disease. Eight patients (15.4%) had a recurrence of disease in the metacarpophalangeal joint or proximal interphalangeal joint. The pull-through technique is a simple, accessible, and effective technique for the treatment of Dupuytren's contracture. The use of palmar mini-incisions combined with minimal dissection has a low risk of iatrogenic injury to the neurovascular bundles and tendons, and has a low risk of recurrence rate. This study reflects level of evidence IV.
PubMed: 38737838
DOI: 10.1055/s-0043-1775882 -
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 -
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 -
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