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Molecular Genetics & Genomic Medicine Mar 2024The MYH3-associated myosinopathies comprise a spectrum of rare neuromuscular disorders mainly characterized by distal arthrogryposis with or without other features like...
BACKGROUND
The MYH3-associated myosinopathies comprise a spectrum of rare neuromuscular disorders mainly characterized by distal arthrogryposis with or without other features like pterygia and vertebrae fusion. CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B) is the only known autosomal recessiveMYH3-associated myosinopathy so far, with no more than two dozen cases being reported.
MATERIALS AND METHODS
A boy with CPSKF1B was recruited and subjected to a comprehensive clinical and imaging evaluation. Genetic detection with whole-exome sequencing (WES) was performed on the patient and extended family members to identify the causative variation. A series of in silico and in vitro investigations were carried out to verify the pathogenicity of the two variants of the identified compound heterozygous variation.
RESULTS
The patient exhibited moderate CPSKF1B symptoms including multiarticular contractures, webbed neck, and spondylocarpotarsal fusion. WES detected a compound heterozygous MYH3 variation consisting of two variants, namely NM_002470.4: c.3377A>G; p. (E1126G) and NM_002470.4: c.5161-2A>C. It was indicated that the NM_002470.4: c.3377A>G; p. (E1126G) variant mainly impaired the local hydrogen bond formation and impacted the TGF-B pathway, while the NM_002470.4: c.5161-2A>C variant could affect the normal splicing of pre-mRNA, resulting in the appearance of multiple abnormal transcripts.
CONCLUSIONS
The findings of this study expanded the mutation spectrum of CPSKF1B, provided an important basis for the counseling of the affected family, and also laid a foundation for the functional study of MYH3 mutations.
Topics: Humans; Male; Arthrogryposis; Conjunctiva; Contracture; Family; Pterygium
PubMed: 38444278
DOI: 10.1002/mgg3.2401 -
RMD Open Feb 2024The objectives were to (1) compare satisfaction with social roles and activities in a large multinational systemic sclerosis (SSc) cohort to general population normative...
Factors associated with satisfaction with social roles and activities among people with systemic sclerosis: a Scleroderma Patient-centered Intervention Network (SPIN) cohort cross-sectional study.
OBJECTIVE
The objectives were to (1) compare satisfaction with social roles and activities in a large multinational systemic sclerosis (SSc) cohort to general population normative data and (2) identify sociodemographic, lifestyle and SSc disease factors associated with satisfaction with social roles and activities.
METHODS
Participants in the Scleroderma Patient-centered Intervention Network Cohort completed the Patient Reported Outcomes Information System Version 2 satisfaction with social roles and activities domain questionnaire. Multivariable regression was used to assess associations with sociodemographic, lifestyle and disease factors.
RESULTS
Among 2385 participants, mean satisfaction with social roles and activities T-score (48.1, SD=9.9) was slightly lower than the US general population (mean=50, SD=10). Factors independently associated with satisfaction were years of education (0.54 per SD, 95% CI 0.14 to 0.93); non-White race or ethnicity (-1.13, 95% CI -2.18 to -0.08); living in Canada (-1.33, 95% CI -2.40 to -0.26 (reference USA)) or the UK (-2.49, 95% CI -3.92 to -1.06); body mass index (-1.08 per SD, 95% CI -1.47 to -0.69); gastrointestinal involvement (-3.16, 95% CI -4.27 to -2.05); digital ulcers (-1.90, 95% CI -3.05 to -0.76); moderate (-1.62, 95% CI -2.78 to -0.45) or severe (-2.26, 95% CI -3.99 to -0.52) small joint contractures; interstitial lung disease (-1.11, 95% CI -1.97 to -0.25); pulmonary arterial hypertension (-2.69, 95% CI -4.08 to -1.30); rheumatoid arthritis (-2.51, 95% CI -4.28 to -0.73); and Sjogren's syndrome (-2.42, 95% CI -3.96 to -0.88).
CONCLUSION
Mean satisfaction with social roles and activities is slightly lower in SSc than the general population and associated with multiple sociodemographic and disease factors.
Topics: Humans; Cross-Sectional Studies; Patient Satisfaction; Scleroderma, Systemic; Personal Satisfaction; Patient-Centered Care
PubMed: 38428973
DOI: 10.1136/rmdopen-2023-003876 -
Archives of Plastic Surgery Jan 2024Although prepectoral implant-based breast reconstruction has recently gained popularity, dual-plane reconstruction is still a better option for patients with...
Although prepectoral implant-based breast reconstruction has recently gained popularity, dual-plane reconstruction is still a better option for patients with poor-quality mastectomy skin flaps. However, shoulder morbidity is aggravated by subpectoral reconstruction, especially in irradiated patients. This study aimed to demonstrate shoulder exercise improvement in subpectoral reconstruction by delayed prepectoral conversion with an acellular dermal matrix (ADM) inlay graft technique at the time of expander-to-implant exchange after irradiation. Patients with breast cancer treated for expander-to-implant exchange after subpectoral expander insertion and subsequent radiotherapy between January 2021 and June 2022 were enrolled. An ADM inlay graft was inserted between the pectoralis major muscle and the previously inserted ADM. The ADM was sutured partially overlapping the pectoralis muscle from the medial side with the transition part, to the muscle border at the lateral side. Perioperative shoulder joint active range-of-motion (ROM) for forward flexion, abduction, and external rotation was also evaluated. A total of 35 patients were enrolled in the study. Active shoulder ROM significantly improved from 163 degrees preoperatively to 176 degrees postoperatively in forward flexion, 153 to 175 degrees in abduction, and 69 to 84 degrees in external rotation. There was no difference in patient satisfaction regarding the final outcome between the conventional prepectoral reconstruction group and the study group. Shoulder exercises in irradiated patients who underwent subpectoral reconstruction were improved by delayed prepectoral conversion using an ADM inlay graft. It is recommended that subpectoral reconstruction not be ruled out due to concerns regarding muscle contracture and shoulder morbidity in radiation-planned patients with poor mastectomy skin flaps.
PubMed: 38425848
DOI: 10.1055/s-0043-1775591 -
Journal of Orthopaedic Case Reports Feb 2024Cysticercosis leads to a cyst formation known to occur due to the Taenia solium parasite. Patients normally present with seeding and formation of the cysts in the...
INTRODUCTION
Cysticercosis leads to a cyst formation known to occur due to the Taenia solium parasite. Patients normally present with seeding and formation of the cysts in the central nervous system (CNS) as neurocysticercosis (NCC). Intramuscular cysts are rare presentations and are mostly incidental findings in NCC patients. We present a rare case of a rapidly progressing isolated cysticercosis of the flexor digitorum profundus (FDP) muscle leading to a pseudotumor and presenting with pseudo-Volkmanns contracture and a positive Volkmanns sign.
CASE REPORT
A 26-year-old right-hand dominant vegetarian female presented with a 3-month-old progressive swelling on her right forearm with no antecedent trauma history. A positive Volkmann's sign was present. Radiographs were normal, and ultrasonography showed a cysticercus cyst in the FDP muscle belly with a multiseptated abscess around the tendons of the middle, ring, and little fingers at the musculotendinous junction. Bones and nerves were spared. After ruling out CNS involvement and providing oral antiparasitic cover, she underwent a successful surgical exploration with cyst excision, debridement, and freeing of the involved tendons. Immediately post-operatively, she was able to completely extend the three involved fingers without flexion at the wrist joint (resolving Volkmann's sign). She reported significant improvements in the functions of daily life. She was protected with a splint for 2 weeks. There was no recurrence, and the swelling subsided. Histo-pathology reports depicted cysts with visible scolices.
CONCLUSION
It is important to consider the possibility of 'Myoparasitism' in atraumatic cases showing contractures. Clinching the right diagnosis is essential and best done with a multidisciplinary approach with ultrasonography, magnetic resonance imaging, electromyography, and nerve conduction velocity studies. It is essential to rule out life-threatening NCC beforehand and offer prophylaxis. Surgical exploration is generally indicated to regain normal function and free the involved structures.
PubMed: 38420243
DOI: 10.13107/jocr.2024.v14.i02.4248 -
Cureus Jan 2024Dupuytren's disease (DD) is a fibroproliferative disorder that manifests as an abnormal growth of myofibroblasts, causing nodule formation and contractures and affecting... (Review)
Review
Comparing Complications and Patient Satisfaction Following Injectable Collagenase Versus Limited Fasciectomy for Dupuytren's Disease: A Systematic Review and Meta-Analysis.
Dupuytren's disease (DD) is a fibroproliferative disorder that manifests as an abnormal growth of myofibroblasts, causing nodule formation and contractures and affecting digit function. If left untreated, these contractures can lead to a loss of mobility and potentially impact hand function. This systematic review critically compares and evaluates the existing literature on the complications and patient satisfaction following injectable collagenase (CCH) versus limited fasciectomy (LF) for DD. We performed a comprehensive search of the PubMed, Medical Literature Analysis and Retrieval System Online (MEDLINE), The Cochrane Library, and Excerpta Medica database (EMBASE) databases from 2006 to August 2023. This research targeted all clinical studies involving adults who underwent injectable collagenase and/or limited fasciectomy in the management of DD. Out of the 437 identified studies, only 53 were considered eligible for our analysis, and merely 14 met our inclusion criteria. These selected studies encompassed a total of 967 patients with 1,344 treated joints, with an average follow-up duration of 19.22 (ranging from one to 84.06) months. Within this cohort, 498 joints from 385 patients underwent LF, while 846 joints from 491 patients received CCH injections. Notably, among the 491 patients treated with CCH, 1,060 complications were reported, averaging 2.15 complications per patient, with the most common being contusion/bruising/hematoma/ecchymosis (22.54%), and edema/swelling (18.96%). In contrast, among the 385 patients treated with LF, only 97 complications were reported, translating to 0.25 complications per patient, with the most frequent being paraesthesia or numbness (23.7%), scar sequelae like skin laceration, tear, fissure, or hypertrophic scar (23.7%), and neuropraxia or nerve injury (22.6%). Our meta-analysis indicates that paraesthesia or numbness is more frequently observed in LF than CCH injections, although without statistical significance, with a risk ratio (RR) of 0.39 (95% confidence interval (CI) 0.13-1.18, p-value 0.1). However, scar sequelae (hypertrophic scar, skin laceration, tear, or fissure) show a contrasting pattern, being more commonly associated with CCH injections than LF, with an RR of 1.98 (95% CI 0.26-14.85, p-value 0.51), which, upon eliminating the source of heterogeneity, becomes statistically significant, with an RR of 4.98 (95% CI 1.40-17.72, p-value 0.01). Our data revealed a higher frequency of complications with CCH compared to LF, although more severe adverse effects were observed in the LF group, such as neuropraxia or nerve injury. Scar sequelae were more common with CCH injections. Despite both treatments showing increased patient satisfaction at the final follow-up, CCH injection resulted in earlier improvements in satisfaction.
PubMed: 38420076
DOI: 10.7759/cureus.53147 -
JBJS Essential Surgical Techniques 2024Constructing an osseointegrated prosthetic leg is the necessary subsequent phase of care for patients following the surgical implantation of an osseointegrated...
BACKGROUND
Constructing an osseointegrated prosthetic leg is the necessary subsequent phase of care for patients following the surgical implantation of an osseointegrated prosthetic limb anchor. The surgeon implants the bone-anchored transcutaneous implant and the prosthetist constructs the prosthetic leg, which then attaches to the surgically implanted anchor. An osseointegration surgical procedure is usually considered in patients who are unable to use or are dissatisfied with the use of a socket prosthesis.
DESCRIPTION
This present video article describes the techniques and principles involved in constructing a prosthetic leg for transfemoral and transtibial amputees, as well as postoperative patient care. Preoperatively, as part of a multidisciplinary team approach, the prosthetist should assist in patient evaluation to determine suitability for osseointegration surgery. Postoperatively, when approved by the surgeon, the first step is to perform an implant inspection and to take patient measurements. A temporary loading implant is provided to allow the patient to start loading the limb. When the patient is approved for full-length leg to begin full weight-bearing, the implant and prosthetic quality are evaluated, including torque, implant position, bench alignment, static alignment in the standing position, and initial dynamic alignment. This surgical procedure also requires long-term, continued patient care and prosthetic maintenance.
ALTERNATIVES
For patients who are dissatisfied with the use of a socket prosthesis, adjustments can often be made to improve the comfort, fit, and performance of the prosthesis. Non-osseointegration surgical options include bone lengthening and/or soft-tissue contouring.
RATIONALE
Osseointegration can be provided for amputees who are expressing dissatisfaction with their socket prosthesis, and typically provides superior mobility and quality of life compared with nonoperative and other operative options. Specific differences between the appropriate design and construction of osseointegrated prostheses versus socket prostheses include component selection, component fit, patient-prosthesis static and dynamic alignment, tolerances and accommodations, and also the expected long-term changes in patient joint mobility and behavior. Providing an osseointegrated prosthesis according to the principles appropriate for socket prostheses may often leave an osseointegrated patient improperly aligned and provoke maladaptive accommodations, hindering performance and potentially putting patients at unnecessary risk for injury.
EXPECTED OUTCOMES
Review articles describing the clinical outcomes of osseointegration consistently suggest that patients with osseointegrated prostheses have improved prosthesis wear time, mobility, and quality of life compared with patients with socket prostheses. Importantly, studies have shown that osseointegrated prostheses can be utilized in patients with short residual limbs that preclude the use of a socket prosthesis, allowing them to regain or retain function of the joint proximal to the short residuum. Osseoperception improves patient confidence during mobility. Because there is an open skin portal, low-grade soft-tissue infection can occur, which is usually treated with a short course of oral antibiotics. Much less often, soft-tissue debridement or implant removal may be needed to treat infection. Periprosthetic fractures can nearly always be treated with familiar fracture fixation techniques and implant retention.
IMPORTANT TIPS
Falls can lead to periprosthetic fractures.Malalignment can lead to unnecessary pathologic joint forces, soft-tissue contractures, and an accommodative gait.Inadequately sophisticated components can leave patients at a performance deficit.Wearing the prosthetic leg while sleeping may lead to rotational forces exerted on the limb, which may cause prolonged tension on the soft tissue.
ACRONYMS AND ABBREVIATIONS
QTFA = Questionnaire for Persons with a Transfemoral AmputationLD-SRS = Limb Deformity Modified Scoliosis Research SocietyPROMIS = Patient-Reported Outcomes Measurement Information SystemEQ-5D = EuroQol 5 Dimensions.
PubMed: 38406563
DOI: 10.2106/JBJS.ST.22.00064 -
International Journal of Surgery Case... Mar 2024Ipsilateral proximal, shaft, and distal femur fractures are extremely uncommon. It might be challenging and contentious to treat ipsilateral multi-level femur fractures....
INTRODUCTION AND IMPORTANCE
Ipsilateral proximal, shaft, and distal femur fractures are extremely uncommon. It might be challenging and contentious to treat ipsilateral multi-level femur fractures. There are still unanswered questions regarding the order of fracture types that should be repaired first and the type of implant that should be used.
CASE PRESENTATION
A twenty-nine-year-old male patient was assessed at the emergency department after a motorcycle accident. The patient had a clearly deformed left lower extremity and was complaining of pain in the left thigh. Preoperative radiographs revealed ipsilateral multi-level femur fracture on the left thigh involved basicervical fracture of femur (AO/OTA 31-B3) with transverse shaft fracture of femur (AO/OTA 32-A3) and extra articular supracondylar femur fracture (AO/OTA 33-A2).
CLINICAL DISCUSSION
First, we performed proximal femur nail antirotation in order to stabilize the fracture of the femur neck and reduce the incidence of nonunion and avascular necrosis of the femoral head in young adults. The next step to fix the shaft and distal femur fracture was to perform the distal femur locking plate. The EQ5D and Harris Hip Score questionnaires showed improvement after implementing these procedures.
CONCLUSION
Ipsilateral multi-level femur fractures have challenges and controversies in their management. In this situation, proximal femur nail antirotation and distal femur locking plates are viable options due to the condition of the injury and the higher risk of negative effects. After all fractures have been fixed, it is important to closely monitor the hip and knee joints to avoid stiffness or contracture.
PubMed: 38401321
DOI: 10.1016/j.ijscr.2024.109367 -
Medicina (Kaunas, Lithuania) Feb 2024: The purpose of this study was to compare clinical outcomes and polyethylene (PE) insert thickness between total knee arthroplasty (TKA) systems providing 1 mm and 2 mm... (Randomized Controlled Trial)
Randomized Controlled Trial
: The purpose of this study was to compare clinical outcomes and polyethylene (PE) insert thickness between total knee arthroplasty (TKA) systems providing 1 mm and 2 mm increments. : In this randomized controlled trial, 50 patients (100 knees) undergoing same-day or staggered bilateral TKA were randomized to receive a TKA system providing 1 mm increments in one knee (1 mm group) and a TKA system providing 2 mm increments in the other knee (2 mm group). At 2 years postoperatively, Knee Society Score (KSS), Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) score, Forgotten Joint Score (FJS), range of motion (ROM), and insert thicknesses were compared between the groups. : A total of 47 patients (94 knees) participated in follow-up analysis. In each group, patient-reported outcomes improved significantly after TKA (all, < 0.05). There were no significant differences in patient-reported outcomes. The mean ROM was not significantly different between groups at preoperative and 2-year points. The rate of postoperative flexion contracture ≥ 5° was 2.1% and 4.3%, and the rate of postoperative recurvatum ≥ 5° was 4.3% and 2.1% in the 1 mm group and 2 mm, respectively (all, = 1.000). Mean insert thickness was significantly thinner in the 1 mm group than the 2 mm group ( = 0.001). The usage rate of a thick insert (≥14 mm) was 12.7% and 38.3% in the 1 mm group and 2 mm group ( = 0.005). : The use of a TKA system providing 1 mm PE insert thickness increments offered no clinical benefit in terms of patient reported outcomes over systems with 2 mm increments at 2 years of follow-up. However, the TKA system with 1 mm increments showed significantly thinner PE insert usage. As a theoretical advantage of 1 mm increments has yet to be proven, the mid- to long-term effects of thinner PE insert usage must be determined.
Topics: Humans; Polyethylene; Knee Prosthesis; Treatment Outcome; Knee Joint; Knee; Osteoarthritis, Knee; Range of Motion, Articular
PubMed: 38399609
DOI: 10.3390/medicina60020322 -
Zhongguo Xiu Fu Chong Jian Wai Ke Za... Feb 2024To analyze the effectiveness of binocular loupe assisted mini-lateral and medial incisions in lateral position for the release of elbow stiffness.
OBJECTIVE
To analyze the effectiveness of binocular loupe assisted mini-lateral and medial incisions in lateral position for the release of elbow stiffness.
METHODS
The clinical data of 16 patients with elbow stiffness treated with binocular loupe assisted mini-internal and external incisions in lateral position release between January 2021 and December 2022 were retrospectively analyzed. There were 9 males and 7 females, aged from 19 to 57 years, with a median age of 33.5 years. Etiologies included olecranon fracture in 6 cases, elbow dislocation in 4 cases, medial epicondyle fracture in 2 cases, radial head fracture in 4 cases, terrible triad of elbow joint in 2 cases, supracondylar fracture of humerus in 1 case, coronoid process fracture of ulna in 1 case, and humerus fracture in 1 case, with 5 cases presenting a combination of two etiologies. The duration of symptoms ranged from 5 to 60 months, with a median of 8 months. Preoperatively, 12 cases had concomitant ulnar nerve numbness, and 6 cases exhibited ectopic ossification. The preoperative range of motion for elbow flexion and extension was (58.63±22.30)°, the visual analogue scale (VAS) score was 4.3±1.6, and the Mayo score was 71.9±7.5. Incision lengths for both lateral and medial approaches were recorded, as well as the occurrence of complications. Clinical outcomes were evaluated using Mayo scores, VAS scores, and elbow range of motion both preoperatively and postoperatively.
RESULTS
The lateral incision lengths for all patients ranged from 3.0 to 4.8 cm, with an average of 4.1 cm. The medial incision lengths ranged from 2.4 to 4.2 cm, with an average of 3.0 cm. The follow-up duration ranged from 6 to 19 months and a mean of 9.2 months. At last follow-up, 1 patient reported moderate elbow joint pain, and 3 cases exhibited residual mild ulnar nerve numbness. The other patients had no complications such as new heterotopic ossification and ulnar nerve paralysis, which hindered the movement of elbow joint. At last follow-up, the elbow range of motion was (130.44±9.75)°, the VAS score was 1.1±1.0, and the Mayo score was 99.1±3.8, which significantly improved when compared to the preoperative ones ( =-12.418, <0.001; =6.419, <0.001; =-13.330, <0.001).
CONCLUSION
The binocular loupe assisted mini-lateral and medial incisions in lateral position integrated the advantages of traditional open and arthroscopic technique, which demonstrated satisfying safety and effectivity for the release of elbow contracture, but it is not indicated for patients with posterior medial heterolateral heterotopic ossification.
Topics: Male; Female; Humans; Adult; Elbow; Retrospective Studies; Hypesthesia; Elbow Injuries; Fracture Fixation, Internal; Treatment Outcome; Joint Diseases; Elbow Joint; Range of Motion, Articular; Ossification, Heterotopic
PubMed: 38385224
DOI: 10.7507/1002-1892.202311017 -
Journal of ISAKOS : Joint Disorders &... Jun 2024Elbow stiffness secondary to trauma or surgical reconstruction can sometimes result in a severe contracture with restricted joint space, and arthroscopic access to the...
Elbow stiffness secondary to trauma or surgical reconstruction can sometimes result in a severe contracture with restricted joint space, and arthroscopic access to the joint is difficult. Previous surgery and severe stiffness can also alter the position of neurovascular structures and iatrogenic injury is possible with an inside-out arthroscopic approach. To overcome these technical difficulties, an endoscopic approach to the anterior capsule can be performed as an alternative to open approach. The endoscopic approach utilises the sub-brachialis space for an outside-in capsular resection under vision. Identification of standard anatomic landmarks is useful as a guide for safe resection in a central to peripheral direction.
Topics: Humans; Contracture; Elbow Joint; Arthroscopy; Joint Capsule; Male; Treatment Outcome; Range of Motion, Articular; Female; Endoscopy
PubMed: 38373590
DOI: 10.1016/j.jisako.2024.02.003