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The Journal of Arthroplasty May 2024Total knee arthroplasty (TKA) in patients who have skeletal dysplasia is a technically challenging surgery due to deformity, joint contracture, and associated...
BACKGROUND
Total knee arthroplasty (TKA) in patients who have skeletal dysplasia is a technically challenging surgery due to deformity, joint contracture, and associated co-morbidities. Patients presenting with this condition have traditionally been treated with conservative measures, leading to poor outcomes. The aim of this study was to follow up on patients who had skeletal dysplasia following total knee arthroplasty, specifically with regards to clinical outcomes.
METHODS
A total of 31 knees (22 patients) with skeletal dysplasia that had undergone total knee arthroplasty in our institution were included in our study. The mean follow-up from index surgery was 110.3 months (range; 20 to 291). The type of dysplasia, implant used, and clinical outcomes with patient-reported outcome measures (PROMs) are presented.
RESULTS
There were eight patients (36.3%) who had a diagnosis of achondroplasia, followed by multiple epiphyseal dysplasia (31.8%) and spondyloepiphyseal dysplasia (22.7%). There were fourteen men and eight women who had a mean age of 51 years (range, 28 to 73). Custom implants were required in twelve cases (38.7%), custom jigs were used in six cases (19.4%), and robotic assisted surgery was used in two (6.5%) total knee arthroplasties. Hinged prostheses were used in seventeen cases (54.8%), posterior stabilized in nine (29.0%), and cruciate retaining implants in five (16.1%). There was one patient who sustained an intra-operative medial tibial plateau fracture treated with concomitant open reduction and internal fixation. There was one revision that occurred during the follow-up period with a patella resurfacing for continued anterior knee pain. Post-operatively, Oxford knee scores improved on average by 12.2 points. The 10- and 20-year all-cause revision-free survival was 96.8 respectively.
CONCLUSION
Despite the technical challenges and complexity associated with this unique patient cohort, we demonstrated excellent implant survivorship and clinical outcomes post-total knee arthroplasty with mid- to long-term follow up of over 20 years. We recommend pre-operative cross-sectional imaging for precise planning and implant templating with multidisciplinary team decision-making. Despite our results, functional outcomes remain inferior to primary arthroplasty within the general population, though we still recommend this treatment modality to appropriately counseled patients.
PubMed: 38797447
DOI: 10.1016/j.arth.2024.05.051 -
CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.American Journal of Medical Genetics.... May 2024The CASK gene and its product protein kinase have been associated with microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome and various other...
The CASK gene and its product protein kinase have been associated with microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome and various other neurodevelopmental disorders. Clinical presentation is highly variable and generally includes intellectual disability, neurological disorders, and dysmorphic features, at a minimum. We present the case of one of the oldest known currently living patients with MICPCH syndrome with additional features not previously described in the literature (midface retrusion, macroglossia, dental crowding, adolescent-onset contractures at large joints, laxity at finger joints, and prominent wrist dystonia). Progressive hypertonicity throughout the patient's life has been managed with serial botulinum toxin injections. A comprehensive multimodal care team including physiatry, physical therapy, exercise therapy, and audiology has been assisting her with hearing deficits, communication skills, and mobility. This potentially expands the phenotype of MICPCH syndrome and provides information about the management of this condition into adulthood.
PubMed: 38785278
DOI: 10.1002/ajmg.a.63722 -
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 -
Journal of Orthopaedic Research :... May 2024RelA/p65 is as a crucial component of the nuclear factor κB (NF-κB) signaling pathway that has a significant impact on various fibrotic diseases. However, its role in...
RelA/p65 is as a crucial component of the nuclear factor κB (NF-κB) signaling pathway that has a significant impact on various fibrotic diseases. However, its role in the fibrosis of tissues surrounding the joint after traumatic injury remains unclear. In this study, rats were divided into three groups: non-operated control (NC) group, p65-siRNA treated (siRNA-p65) group, and negative siRNA treated (siRNA-neg) group. Then, 10 μL (10 nmol) of p65-siRNA was injected into the joint of the siRNA-p65 group. Meanwhile, 10 μL of negative siRNA was administered to the knee joint of the operated siRNA-neg group for comparison. The rats in the NC group did not receive surgery or drug intervention. After 4 weeks of right knee fixation in each group, X-ray measurements revealed significantly reduced degree of knee flexion contracture following p65-siRNA treatment (siRNA-neg: 77.73° ± 2.799°; siRNA-p65: 105.7° ± 2.629°, p < 0.0001). Histopathological examination revealed that the number of dense fibrous connective tissues decreased following p65-siRNA inhibition. Western blot analysis revealed significantly different expression levels of fibrosis-related proteins between the siRNA-p65 and siRNA-neg groups. Immunohistochemical analysis revealed a reduction in the average number of myofibroblasts in the siRNA-p65 group compared with that in the siRNA-neg group. Thus, intra-articular p65-siRNA injection could attenuate fibroblast activation and fibrosis-related protein production, suppress periarticular tissue fibrosis, and prevent joint contracture by downregulating the NF-κB p65 pathway. Statement of clinical significance: Intra-articular injection of p65-siRNA could reduce myofibroblast proliferation and fibrosis-related protein expression by downregulating the NF-κB p65 pathway, inhibit periarticular tissue fibrosis, and prevent joint adhesion, which represents a potential therapy in the prevention of joint fibrosis following traumatic injury.
PubMed: 38751161
DOI: 10.1002/jor.25877 -
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 -
Bulletin of the Hospital For Joint... Jun 2024This study aimed to evaluate implant survivor-ship, complications, and re-operation rates following robotic arm-assisted unicompartmental knee arthroplasty (UKA) at...
PURPOSE
This study aimed to evaluate implant survivor-ship, complications, and re-operation rates following robotic arm-assisted unicompartmental knee arthroplasty (UKA) at mid-term follow-up.
METHODS
Patient satisfaction, clinical outcome, and knee alignment restoration were evaluated. All patients undergo-ing robotic arm-assisted medial UKA during a 2-year period were prospectively enrolled. Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) score, varus-valgus deformity, and knee range of motion were studied pre- and postoperatively. Revisions and surgery-related complications were recorded.
RESULTS
Eighty-five patients were included in the study (mean age: 71.2 years). The mean follow-up was 74.7 months. One conversion to total knee arthroplasty was performed due to periprosthetic fracture 4.5 years after initial surgery result-ing in a survivorship rate of 98.8%. Overall satisfaction was excellent; 97.7% of patients were satisfied or very satisfied, while none was dissatisfied or very dissatisfied. WOMAC score in total, as well as in each component, exhibited sig-nificant improvement postoperatively. Additionally, knee alignment in the coronal plane as well as flexion contracture were significantly improved following the procedure.
CONCLUSIONS
The outcomes of the present cohort revealed that precise prosthesis implantation through the robotic arm-assisted system in UKA provided excellent overall satisfac-tion rates and clinical outcomes at mid-term follow-up.
Topics: Humans; Arthroplasty, Replacement, Knee; Aged; Female; Male; Robotic Surgical Procedures; Treatment Outcome; Middle Aged; Range of Motion, Articular; Patient Satisfaction; Follow-Up Studies; Knee Joint; Knee Prosthesis; Osteoarthritis, Knee; Reoperation; Aged, 80 and over; Recovery of Function; Prospective Studies; Postoperative Complications; Time Factors
PubMed: 38739662
DOI: No ID Found -
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 Plastic, Reconstructive &... Apr 2024Reverse homodigital artery island flap (RHDI) has been reported to have some postoperative complications. Cross-finger reverse digital artery island flap (CRDI), which...
Comparing clinical and aesthetic outcomes of cross-finger and homodigital reverse digital artery island flap for fingertip injuries: A single-center retrospective cohort study.
BACKGROUND
Reverse homodigital artery island flap (RHDI) has been reported to have some postoperative complications. Cross-finger reverse digital artery island flap (CRDI), which is harvested from an adjacent intact finger, has been used to decrease these complications. This study aimed to provide a review of the CRDI procedure and compare the clinical outcomes of CRDI with those of RHDI.
METHODS
RHDI has been performed for fingertip amputations with deficit of 1.5-2.5 cm before 2018, and CRDI has been performed since 2018. We assessed the functional and aesthetic outcomes, including finger length, nail deformity, finger motion, and Hand20 scores at the final follow-up.
RESULTS
We identified 22 patients who underwent RHDI and 10 patients who underwent CRDI. The mean follow-up period was 10.3 ± 5.3 months. The median time required for wound healing were 47.0 days (IQR: 34.3-55.8 days) and 34.5 days (IQR: 29.3-44.3 days) in RHDI and CRDI, respectively. The hook nail deformity occurred significantly more frequently in RHDI compared to that in CRDI (40.9% vs. 0.0%, p = 0.03). Flexion contracture of the proximal interphalangeal joint greater than 15º was found to be significantly more in RHDI than in CRDI (36.4% vs. 0.0%, p = 0.04). The median postoperative total active motion of the donor site in CRDI was 278º (IQR: 260-280º). The median postoperative Hand20 scores were similar between the two groups.
CONCLUSION
CRDI was associated with superior clinical outcomes in terms of lower rates of postoperative flexion contracture and hook nail deformity, potentially making it a better option compared to RHDI.
PubMed: 38734540
DOI: 10.1016/j.bjps.2024.03.019 -
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