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Acta Myologica : Myopathies and... 2023Fukutin-related protein (FKRP) mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe...
Fukutin-related protein (FKRP) mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe congenital muscular dystrophy (CMD). This study aims to report two siblings belonging to a non-consanguineous Tunisian family harboring a novel compound heterozygous variant and presenting a mild LGDMR9 phenotype. For mutation screening, massive parallel sequencing was performed, followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to validate the existence of the discovered variants. The absence of alpha-dystroglycan was determined by immunohistochemistry. Brain and thigh magnetic resonance imaging (MRI) were performed to detect thigh and brain abnormalities. The two siblings had a late age at onset and clinical examination showed that the pelvic girdles had a predominantly proximal and symmetrical distribution of weakness without cardiac or respiratory involvement. They both had a modified Gardner-Medwin Walton Scale mGMWS grade of 4 and a modified Rankin Scale (mRS) score of 1. The DNA sequencing revealed a novel deletion of exons 2 and 3 in one allele and a missense mutation c.1364C > A, which has been reported to be responsible for congenital muscular dystrophy and mental retardation on the second allele. The simultaneous presence of the two variations in the two cases suggests that the variants segregate with the pathophysiology.
Topics: Humans; Muscle, Skeletal; Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle; Mutation; Pentosyltransferases; Phenotype; Proteins
PubMed: 38406381
DOI: 10.36185/2532-1900-391 -
Physiological Reports Dec 2023Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb-girdle muscular dystrophy (LGMD) is a type of MD that mainly...
Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb-girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles. LGMD is classified into autosomal dominant (LGMD-D) and autosomal recessive (LGMD-R) inheritance patterns. Mutations in the Dysferlin gene (DYSF) are common causes of LGMD-R. However, genetic screening of DYSF mutations is rare in Taiwan. Herein, we identified a novel c.2867_2871del ACCAG deletion and a previously reported c.937+1G>A mutation in DYSF from a Taiwanese family with LGMD. The primary symptoms of both siblings were difficulty climbing stairs, walking on the toes, and gradually worsening weakness in the proximal muscles and increased creatine kinase level. Through pedigree analysis and sequencing, two siblings from this family were found to have compound heterozygous DYSF mutations (c. 937+1G>A and c. 2867_2871del ACCAG) within the separated alleles. These mutations induced early stop codons; if translated, truncated DYSF proteins will be expressed. Or, the mRNA products of these two mutations will merit the nonsense-mediated decay, might result in no dysferlin protein expressed. To our knowledge, this is the first report of a novel c.2867_2871del ACCAG deletion in DYSF. Further research is required to examine the effects of the novel DYSF mutation in Taiwanese patients with LGMD.
Topics: Humans; Dysferlin; Muscular Dystrophies, Limb-Girdle; Mutation; Muscular Atrophy; Inheritance Patterns
PubMed: 38110300
DOI: 10.14814/phy2.15887 -
Journal of Orthopaedic Surgery and... Apr 2024Debates persist over optimal pelvic girdle reconstruction after acetabular tumor resection, with surgeons grappling between modular and 3D-printed hemipelvic... (Comparative Study)
Comparative Study
Biomechanical and clinical outcomes of 3D-printed versus modular hemipelvic prostheses for limb-salvage reconstruction following periacetabular tumor resection: a mid-term retrospective cohort study.
BACKGROUND
Debates persist over optimal pelvic girdle reconstruction after acetabular tumor resection, with surgeons grappling between modular and 3D-printed hemipelvic endoprostheses. We hypothesize superior outcomes with 3D-printed versions, yet scarce comparative research exists. This study fills the gap, examining biomechanics and clinical results retrospectively.
METHODS
From February 2017 to June 2021, we retrospectively assessed 32 patients undergoing en bloc resection for malignant periacetabular tumors at a single institution.
PRIMARY OUTCOME
limb function.
SECONDARY OUTCOMES
implant precision, hip joint rotation center restoration, prosthesis-bone osteointegration, and complications. Biomechanical characteristics were evaluated through finite element analysis on pelvic defect models.
RESULTS
In the 3D-printed group, stress distribution mirrored a normal pelvis, contrasting the modular group with elevated overall stress, unstable transitions, and higher stress peaks. The 3D-printed group exhibited superior functional scores (MSTS: 24.3 ± 1.8 vs. 21.8 ± 2.0, p < 0.05; HHS: 79.8 ± 5.2 vs. 75.3 ± 3.5, p < 0.05). Prosthetic-bone interface osteointegration, measured by T-SMART, favored 3D-printed prostheses, but surgery time (426.2 ± 67.0 vs. 301.7 ± 48.6 min, p < 0.05) and blood loss (2121.1 ± 686.8 vs. 1600.0 ± 505.0 ml, p < 0.05) were higher.
CONCLUSIONS
The 3D-printed hemipelvic endoprosthesis offers precise pelvic ring defect matching, superior stress transmission, and function compared to modular endoprostheses. However, complexity, fabrication expertise, and challenging surgical implantation result in prolonged operation times and increased blood loss. A nuanced consideration of functional outcomes, complexity, and patient conditions is crucial for informed treatment decisions.
LEVEL OF EVIDENCE
Level III, therapeutic study (Retrospective comparative study).
Topics: Humans; Retrospective Studies; Printing, Three-Dimensional; Female; Male; Acetabulum; Middle Aged; Bone Neoplasms; Adult; Biomechanical Phenomena; Limb Salvage; Treatment Outcome; Plastic Surgery Procedures; Prosthesis Design; Cohort Studies; Aged; Young Adult; Time Factors
PubMed: 38654343
DOI: 10.1186/s13018-024-04697-w -
Injury May 2024The Finnish national Traffic Safety Strategy 2022-2026 seeks to halve the number of road fatalities and serious injuries from 2020 to 2030. The strategy states that...
OBJECTIVE
The Finnish national Traffic Safety Strategy 2022-2026 seeks to halve the number of road fatalities and serious injuries from 2020 to 2030. The strategy states that better information on bicycle crashes is needed for safety promotion. The aim of this study was to describe the demographics, injury characteristics, alcohol involvement, and helmet use of severely injured cyclists and to compare single bicycle crashes (falling alone or hitting a fixed object) to collisions.
MATERIAL AND METHODS
We identified all bicycle crashes between 2006 and 2021 from the Helsinki Trauma Registry (HTR). Variables analysed were basic patient demographics, Abbreviated Injury Scale (AIS) codes, AIS 3+ injuries, injured body regions, patient Injury Severity Score (ISS) and New Injury Severity Score (NISS), 30-day in-hospital mortality, ICU length of stay, injury mechanism, alcohol use by the injured cyclists, and helmet use.
RESULTS
Of the 325 severe (NISS >15) cycling injury patients in the HTR, 53.5 % were injured in single crashes and 46.5 % in collisions with a moving object. Most (71.4 %) patients were men and mean age of all patients was 54.1 years (SD 16.7). Alcohol was detected in 23.1 % of cases and more often in single crashes (32.8 %) than in collisions (11.9 %). Less than a third (29.2 %) of all cyclists wore a helmet; those who wore a helmet had fewer serious (AIS 3+) head injuries than those who did not. Cyclists injured in collisions had higher ISS and NISS scores than those injured in single crashes. Serious (AIS 3+) injuries in extremities or in pelvic girdle were more common in collisions than in single crashes.
CONCLUSIONS
Among severely injured cyclists, single bicycle crashes were more common; alcohol was more often detected in single bicycle crashes than in collisions. Overall injury severity was higher in collisions than in single crashes. Helmet users had less AIS 3+ head injuries than non-users. Attention should be focused on preventing alcohol-related cycling injuries, promoting use of bicycle helmets, and more precise and comprehensive documentation of bicycle crashes in health care units.
Topics: Male; Humans; Middle Aged; Female; Accidents, Traffic; Bicycling; Craniocerebral Trauma; Injury Severity Score; Registries; Head Protective Devices
PubMed: 38135611
DOI: 10.1016/j.injury.2023.111232 -
Journal of Korean Medical Science Jul 2023We report the case of a 27-year-old survivor of the Halloween crowd crush in Itaewon, Seoul, Korea who was diagnosed with left sciatic neuropathy and right common...
We report the case of a 27-year-old survivor of the Halloween crowd crush in Itaewon, Seoul, Korea who was diagnosed with left sciatic neuropathy and right common peroneal neuropathy accompanied by multifocal rhabdomyolysis. The patient presented to the emergency room complaining of pain from her lower back to her whole lower extremities with paraparesis and paresthesia. Her blood test showed the marked elevation of creatine kinase and liver enzymes. Magnetic resonance imaging revealed multifocal signal changes in the abdominalis and pelvic girdle muscles suggestive of rhabdomyolysis. Magnetic resonance neurography demonstrated injury to the left sciatic and right peroneal nerves. Electrophysiologic studies also revealed lesions in the left sciatic and right peroneal nerves. After comprehensive rehabilitation and conservative treatment for three months, her muscle strength improved, and she could walk independently. Although several previous studies have reported peripheral neuropathy in immobilized patients, to the best of our knowledge, no case associated with a crowd crush has been reported. Therefore, we report the case of multifocal neuropathy combined with rhabdomyolysis in a victim of a crowd crush incident with good recovery.
Topics: Humans; Female; Adult; Peroneal Nerve; Lower Extremity; Medicine; Creatine Kinase; Emergency Service, Hospital
PubMed: 37489720
DOI: 10.3346/jkms.2023.38.e233 -
Cureus Jan 2024Limb-girdle muscular dystrophy (LGMD) is a collection of neuromuscular diseases that develop gradually and are rare, genetically, and clinically diverse. The weakness in...
Limb-girdle muscular dystrophy (LGMD) is a collection of neuromuscular diseases that develop gradually and are rare, genetically, and clinically diverse. The weakness in muscles affecting the shoulder and pelvic girdles is a defining feature of LGMD. Calpainopathy is another name for limb-girdle muscular dystrophy type 2A (LGMD2A). Limb-girdle muscular dystrophy type 2A results from alterations in the calpain-3 (CAPN3) gene, which results in a CAPN3 protein shortage. Gower's sign is most commonly found in LGMD2A. The prevalence ranges from one person in every 14,500 to one in every 123,000. We present a case of a 25-year-old hypotensive female patient who complained of weakness in all four limbs and easy fatigue with a positive Gower's sign. For subsequent management, the neurologist referred the patient to the physical therapy department. The physical therapy goals included enhanced muscle strength, increased joint mobility, reduced fatigue, normalizing gait, and building dynamic balance and postural stability. Diagnosing LGMD clinical variability is important, emphasizing the importance of precise subtype identification and tailoring therapy. Tackling specific muscular deficits and functional restrictions emerges as a critical component in the holistic care of LGMD by physiotherapists. Continuous monitoring and evaluation using appropriate scales and measurements are essential for tracking performance and tailoring treatment strategies. Regular follow-up consultations with the physiotherapist are needed to identify changes in an individual's health and alter the treatment plan accordingly.
PubMed: 38298311
DOI: 10.7759/cureus.51428 -
Scientific Reports Mar 2024Multisystem Proteinopathy 1 (MSP1) disease is a rare genetic disorder caused by mutations in the Valosin-Containing Protein (VCP) gene with clinical features of...
Multisystem Proteinopathy 1 (MSP1) disease is a rare genetic disorder caused by mutations in the Valosin-Containing Protein (VCP) gene with clinical features of inclusion body myopathy (IBM), frontotemporal dementia (FTD), and Paget's disease of bone (PDB). We performed bone scan imaging in twelve patients (6 females, 6 males) with confirmed VCP gene mutation six (50%) of which has myopathy alone, four (33%) with both PDB and myopathy, and two (15%) were presymptomatic carriers. We aim to characterize the PDB in diagnosed individuals, and potentially identify PDB in the myopathy and presymptomatic groups. Interestingly, two patients with previously undiagnosed PDB had positive diagnostic findings on the bone scan and subsequent radiograph imaging. Among the individuals with PDB, increased radiotracer uptake of the affected bones were of typical distribution as seen in conventional PDB and those reported in other MSP1 cohorts which are the thoracic spine and ribs (75%), pelvis (75%), shoulder (75%) and calvarium (15%). Overall, we show that technetium-99m bone scans done at regular intervals are a sensitive screening tool in patients with MSP1 associated VCP variants at risk for PDB. However, diagnostic confirmation should be coupled with clinical history, biochemical analysis, and skeletal radiographs to facilitate early treatment and prevention complications, acknowledging its limited specificity.
Topics: Male; Female; Humans; Frontotemporal Dementia; Valosin Containing Protein; Cell Cycle Proteins; Osteitis Deformans; Merozoite Surface Protein 1; Tomography, X-Ray Computed; Mutation; Myositis, Inclusion Body; Muscular Dystrophies, Limb-Girdle
PubMed: 38467645
DOI: 10.1038/s41598-024-54526-7 -
Cureus Feb 2024Bone metastasis in urothelial cancer is underreported and not well-researched. A case of urothelial carcinoma (UC) with bone metastasis presenting as musculoskeletal...
Bone metastasis in urothelial cancer is underreported and not well-researched. A case of urothelial carcinoma (UC) with bone metastasis presenting as musculoskeletal pain is reported. The patient presented with persistent lower back pain associated with right lower extremity pain, numbness, and tingling. Initially, a diagnosis of sciatica was suspected, but the patient did not respond to treatment. An MRI spine was done, which revealed a bright signal mass in the vertebral body suspicious for a metastatic lesion, left hydroureteronephrosis, and a nonspecific cystic focus in the right iliacus muscle. Subsequent imaging revealed an irregular soft tissue mass at the left posterolateral bladder base, resulting in apparent obstruction of the left ureter, highly suggestive of neoplasm, along with numerous lytic bone lesions in the pelvic girdle with associated soft tissue masses, consistent with metastatic disease. The patient underwent an interventional radiology biopsy of the right iliac soft tissue mass to evaluate the lytic bony lesions, which revealed metastatic carcinoma, consistent with UC. A prompt referral was made for urology and oncology consultations. The patient underwent left percutaneous nephrostomy placement for obstruction, but he was not a candidate for any systemic therapy because of his poor performance status, and hospice was recommended as his metastatic disease was not curable and the goal of any kind of treatment was palliative. The optimal treatment for UC with bone metastasis remains divergent, and the management options should be determined as part of a shared decision-making process. This case highlights the importance of having a high suspicion of neoplastic pathology in patients presenting with musculoskeletal pain, like back pain, and not responding to treatment. This should alert the physicians to the potential for serious disease processes.
PubMed: 38558738
DOI: 10.7759/cureus.55259 -
Anais Da Academia Brasileira de Ciencias 2024There are few studies related to the biological and ecological aspects of the glass snake, a limbless lizard and with a wide geographic distribution. The aim of this...
There are few studies related to the biological and ecological aspects of the glass snake, a limbless lizard and with a wide geographic distribution. The aim of this study was to analyze the locomotion mode of specimens of Ophiodes cf. fragilis in different substrates and to investigate the morphological adaptations associated with this type of behavior. We observed that the analyzed specimens presented slide-push locomotion modes and lateral undulation in different substrates, using their hind limbs to aid locomotion in three of the four substrates analyzed. The bones of the hind limbs (proximal - femur - and distal - tibia and fibula) were present and highly reduced and the femur is connected to a thin pelvic girdle. Our data support that hind limbs observed in species of this genus are reduced rather than vestigial. The costocutaneous musculature was macroscopically absent. This is the first study of locomotor behavior and morphology associated with locomotion in Ophiodes, providing important information for studies on morphological evolution in the genus.
Topics: Animals; Lizards; Locomotion; Adaptation, Physiological; Hindlimb
PubMed: 38747786
DOI: 10.1590/0001-3765202420230240 -
Journal of Pain Research 2024[This corrects the article DOI: 10.2147/JPR.S431438.].
[This corrects the article DOI: 10.2147/JPR.S431438.].
PubMed: 38444879
DOI: 10.2147/JPR.S466139