-
Muscle & Nerve Jun 2024VCP multisystem proteinopathy 1 (MSP1), encompassing inclusion body myopathy (IBM), Paget's disease of bone (PDB) and frontotemporal dementia (FTD) (IBMPFD), features...
INTRODUCTION/AIMS
VCP multisystem proteinopathy 1 (MSP1), encompassing inclusion body myopathy (IBM), Paget's disease of bone (PDB) and frontotemporal dementia (FTD) (IBMPFD), features progressive muscle weakness, fatty infiltration, and disorganized bone structure in Pagetic bones. The aim of this study is to utilize dual-energy x-ray absorptiometry (DXA) parameters to examine it as a biomarker of muscle and bone disease in MSP1.
METHODS
DXA scans were obtained in 28 patients to assess body composition parameters (bone mineral density [BMD], T-score, total fat, and lean mass) across different groups: total VCP disease (n = 19), including myopathy without Paget's ("myopathy"; n = 12) and myopathy with Paget's ("Paget"; n = 7), and unaffected first-degree relatives serving as controls (n = 6).
RESULTS
In the VCP disease group, significant declines in left hip BMD and Z-scores were noted versus the control group (p ≤ .03). The VCP disease group showed decreased whole body lean mass % (p = .04), and increased total body fat % (p = .04) compared to controls. Subgroup comparisons indicated osteopenia in 33.3% and osteoporosis in 8.3% of the myopathy group, with 14.3% exhibiting osteopenia in the Paget group. Moreover, the Paget group displayed higher lumbar L1-L4 T-score values than the myopathy group.
DISCUSSION
In MSP1, DXA revealed reduced bone and lean mass, and increased fat mass. These DXA insights could aid in monitoring disease progression of muscle loss and secondary osteopenia/osteoporosis in MSP1, providing value both clinically and in clinical research.
Topics: Humans; Male; Female; Absorptiometry, Photon; Middle Aged; Cross-Sectional Studies; Aged; Bone Density; Myositis, Inclusion Body; Osteitis Deformans; Adult; Frontotemporal Dementia; Body Composition; Valosin Containing Protein; Adenosine Triphosphatases; Muscular Dystrophies, Limb-Girdle
PubMed: 38551101
DOI: 10.1002/mus.28095 -
Frontiers in Immunology 2024
Topics: Tooth Extraction; Bone and Bones
PubMed: 38545105
DOI: 10.3389/fimmu.2024.1394835 -
Journal of Clinical Rheumatology :... Jun 2024
Topics: Humans; Clavicle; Fractures, Spontaneous; Osteitis; Male; Female; Treatment Outcome; Fractures, Bone; Middle Aged
PubMed: 38538558
DOI: 10.1097/RHU.0000000000002082 -
International Journal of Rheumatic... Feb 2024
Topics: Humans; Acquired Hyperostosis Syndrome; Osteitis; Osteomyelitis; Acne Vulgaris; Synovitis
PubMed: 38536745
DOI: 10.1111/1756-185X.15059 -
Case Reports in Immunology 2024SAPHO syndrome is a complex disease that encompasses both inflammatory arthritis and/or osteitis and dermatologic manifestations. It is considered a rare disease, in...
Risankizumab Efficacy in Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Remission: A Case Report on Rheumatologic and Dermatologic Disease Manifestations with Literature Review.
SAPHO syndrome is a complex disease that encompasses both inflammatory arthritis and/or osteitis and dermatologic manifestations. It is considered a rare disease, in fact, no clinical trials have been conducted on its therapy and management. Therefore, therapeutic approach is based on small case studies. Here, we described the case of a 63-year-old woman affected by SAPHO syndrome, treated with the selective IL-23p19 antagonist, Risankizumab, after unsuccessful therapies with Methotrexate, Infliximab, Adalimumab, and an allergic reaction to Secukinumab. At the beginning of therapy, in November 2022, the patient presented with arthritis in both knees associated with palmar pustulosis and guttate psoriasis on the trunk. DAPSA score was 24, PtGA 80 mm, PASI score 11.1, and BSA 40%. Thereafter, Risankizumab was started at the standard dosage of 150 mg. At week 24 patient achieved clinical remission, DAPSA score was 8, PtGA was 30 mm, PASI was 1, and BSA 2.5. Patient maintained clinical remission state at the subsequent week 52 evaluation. At the same time, the patient did not report any adverse effects. Health-related quality of life was also assessed at the same time points aforementioned, showing significant improvement. In conclusion, this case report wants to point out the efficacy and safety of Risankizumab in SAPHO syndrome, reporting a sustained disease remission through a 12 months long follow-up period. We can consider IL-23p19 targeted therapy as a novel treatment option for SAPHO-with a high efficacy potential-especially on patients that have already been treated with other biologics.
PubMed: 38533274
DOI: 10.1155/2024/9076852 -
Heliyon Mar 2024Brown tumors (osteitis fibrosa cystica) are rare pathognomonic signs that occur in patients with primary hyperparathyroidism (PHPT). Brown tumors can exist in multiple...
Brown tumors (osteitis fibrosa cystica) are rare pathognomonic signs that occur in patients with primary hyperparathyroidism (PHPT). Brown tumors can exist in multiple bones and can easily be misdiagnosed as a metastatic tumor or multiple myeloma. It is also localized in the forearm, humerus, and leg. The symptoms of hypercalcemia, pathologic fracture, and bodyweight loss may increase the diagnostic difficulty of brown tumors because multiple myeloma and bone metastasis also show the same symptoms. We studied a 68-year-old woman who had experienced unusual bodyweight loss in the past 6 months (56kg-40kg) and bone pain. She went to the hospital after a fall with a complaint of bone pain. An X-ray revealed a left bubbly-like cystic change and multiple fractures at the left ulna midshaft. Upon investigation, the level of intact parathyroid hormone was ascertained to be 1800 (normal: 10-60) pg/ml. Microscopically, the tumor demonstrated a benign bone lesion and was compatible with osteitis fibrosa cystica due to PHPT. The parathyroid scan (Tc-99 m sestamibi) indicated right parathyroid hyperplasia, which was later confirmed by a parathyroidectomy. She was diagnosed with osteitis fibrosa cystica associated with PHPT due to a parathyroid adenoma. PHPT can be presented with multiple fractures, bone pain, and bodyweight loss. Therefore, if a patient presents these symptoms, PHPT should be considered.
PubMed: 38524572
DOI: 10.1016/j.heliyon.2024.e28333 -
Journal of Oral and Maxillofacial... Jun 2024Several measures have been implemented to minimize the side effects of impacted third molar (M3) removal including the use of platelet-rich fibrin (PRF). (Randomized Controlled Trial)
Randomized Controlled Trial Comparative Study
BACKGROUND
Several measures have been implemented to minimize the side effects of impacted third molar (M3) removal including the use of platelet-rich fibrin (PRF).
PURPOSE
This study compared the effects of three modifications of PRF (leukocyte-PRF [L-PRF], advanced-PRF [A-PRF], and advanced-PRF plus [A-PRF +]) on the side effects of impacted M3 removal.
STUDY DESIGN, SETTING, AND SAMPLE
This double-blinded randomized controlled trial was conducted at the Oral Surgery Department of Kashan University between September 2022 and May 2023 on patients undergoing mandibular impacted M3 removal. Exclusion criteria were age over 30, local inflammation and infection, medication usage, and systemic disease.
INDEPENDENT VARIABLE
The independent variable was the PRF product grouped into four categories (control, L-PRF, A-PRF, and A-PRF+). Study subjects were randomly distributed among the four groups.
MAIN OUTCOME VARIABLE(S)
The main outcome variables were postoperative sequelae including measures of soft tissue healing, pain, analgesic use, alveolar osteitis, trismus, and swelling. Subjects were assessed at baseline and on days 1, 2, 3, and 7 postsurgery.
COVARIATES
Age, sex, duration of surgery, and side of surgery were the covariates.
ANALYSES
Changes at different time points were analyzed using repeated measures analysis of variance. Pairwise comparisons were performed if significant. P values ≤.05 were considered statistically significant.
RESULTS
The sample consisted of 64 subjects (16 per group). All three modifications of PRF yielded significantly better soft tissue healing index than the control group on days 2, 3, 7, and 14 postoperatively (P > .05). A-PRF and A-PRF + had significantly better healing index than L-PRF on the third day (P = .02, P = .01). All the study groups significantly reduced visual analog scale pain score than the control group on days 1, 2, and 3. A-PRF and A-PRF + had significantly lower visual analog scale scores than L-PRF on the second day (P = .003, P = .02). No significant difference was found in maximum mouth opening during follow-up sessions (P = .2). Study groups had less facial swelling on days 2 and 3 than the control group (P < .05).
CONCLUSION AND RELEVANCE
L-PRF, A-PRF, and A-PRF + can improve postoperative outcomes after M3 removal but may not impact trismus. A-PRF and A-PRF + may be more effective than L-PRF in promoting soft tissue healing and reducing pain. A-PRF and A-PRF + have comparable results.
Topics: Humans; Tooth, Impacted; Molar, Third; Female; Male; Double-Blind Method; Tooth Extraction; Mandible; Adult; Postoperative Complications; Platelet-Rich Fibrin; Pain, Postoperative; Trismus; Pain Measurement; Platelet-Rich Plasma; Wound Healing
PubMed: 38513712
DOI: 10.1016/j.joms.2024.02.014 -
Calcified Tissue International May 2024In this case report, we describe an uncommon case of neuroendocrine cancer of unknown origin began with cauda equina syndrome in a patient affected by Paget disease of...
In this case report, we describe an uncommon case of neuroendocrine cancer of unknown origin began with cauda equina syndrome in a patient affected by Paget disease of bone (PDB). A 76-year-old man with diagnosis of PDB, without history of pain or bone deformity, developed sudden severe low back pain. Bone alkaline phosphatase was increased and MRI and whole-body scintigraphy confirmed the localization of the disease at the third vertebra of the lumbar spine. Treatment with Neridronic Acid was started, but after only 2 weeks of therapy anuria and bowel occlusion occurred together with lower limb weakness and walking impairment. Cauda equina syndrome consequent to spinal stenosis at the level of L2-L3 was diagnosed after admission to Emergency Department and the patient underwent neurosurgery for spinal medulla decompression. The histologic results showed a complete subversion of bone structure in neoplastic tissue, consistent with metastatic neuroendocrine carcinoma of unknown origin. In conclusion, low back pain in the elderly may require deep investigation to individuate rare diseases. In asymptomatic patients with apparently stable PDB, the sudden appearance of pain or neurologic symptoms may alert the clinician for the possibility of other superimposing diseases, like bone metastases.
Topics: Humans; Aged; Male; Osteitis Deformans; Bone Neoplasms; Neuroendocrine Tumors; Cauda Equina Syndrome; Low Back Pain; Lumbar Vertebrae; Carcinoma, Neuroendocrine
PubMed: 38506956
DOI: 10.1007/s00223-024-01195-3 -
JBMR Plus Feb 2024Chronic nonbacterial osteitis (CNO) is a rare disease spectrum, which lacks biomarkers for disease activity. Sodium fluoride-18 positron emission tomography/computed...
Chronic nonbacterial osteitis (CNO) is a rare disease spectrum, which lacks biomarkers for disease activity. Sodium fluoride-18 positron emission tomography/computed tomography ([F]NaF-PET/CT) is a sensitive imaging tool for bone diseases and yields quantitative data on bone turnover. We evaluated the capacities of [F]NaF-PET/CT to provide structural and functional assessment in adult CNO. A coss-sectional study was performed including 43 adult patients with CNO and 16 controls (patients referred for suspected, but not diagnosed with CNO) who underwent [F]NaF-PET/CT at our expert clinic. Structural features were compared between patients and controls, and maximal standardized uptake values (SUV [g/mL]) were calculated for bone lesions, soft tissue/joint lesions, and reference bone. SUV was correlated with clinical disease activity in patients. Structural assessment revealed manubrial and costal sclerosis/hyperostosis and calcification of the costoclavicular ligament as typical features associated with CNO. SUV of CNO lesions was higher compared with in-patient reference bone (mean paired difference: 11.4; 95% CI: 9.4-13.5; p < .001) and controls (mean difference: 12.4; 95%CI: 9.1-15.8; p < .001). The highest SUV values were found in soft tissue and joint areas such as the costoclavicular ligament and manubriosternal joint, and these correlated with erythrocyte sedimentation rate in patients (correlation coefficient: 0.546; p < .002). Our data suggest that [F]NaF-PET/CT is a promising imaging tool for adult CNO, allowing for detailed structural evaluation of its typical bone, soft-tissue, and joint features. At the same time, [F]NaF-PET/CT yields quantitative bone remodeling data that represent the pathologically increased bone turnover and the process of new bone formation. Further studies should investigate the application of quantified [18F]NaF uptake as a novel biomarker for disease activity in CNO, and its utility to steer clinical decision making.
PubMed: 38505528
DOI: 10.1093/jbmrpl/ziad007 -
Cureus Feb 2024To report an instructive case involving destructive spondylitis and synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome, presenting with torticollis and...
Dysphagia Secondary to Myotonic Dystrophy Unveiled in a Case of Destructive Spondylitis With Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) Syndrome Presenting As Torticollis.
To report an instructive case involving destructive spondylitis and synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome, presenting with torticollis and postoperative dysphagia without hoarseness, attributed to hidden myotonic dystrophy (DM). A 51-year-old male patient with a cervical deformity, who was previously managed conservatively for a metastatic tumor, underwent reconstruction surgery and subsequently experienced postoperative dysphagia. The presence of destructive spondylitis with torticollis, warranting prompt assessment to prevent paralysis, adds complexity to the delayed identification of DM. Given the rarity of DM, peculiar neurological symptoms and other systemic comorbidities did not lead to a preoperative diagnosis without prior knowledge. The patient's dysphagia induced respiratory arrest and required reintubation. Challenges in extubation and ventilator weaning arose due to hypercapnia. Superimposed COVID-19 infection elongated the duration of intubation. Extubation failed due to aspiration pneumonia and required a tracheotomy. Despite laryngeal elevation and preservation of the relaxation of the oesophageal entrance, the sensation and movement of the tracheopharynx were disturbed. The patient exhibited an oropharyngeal propulsive disorder, predominantly indicative of motor neuron disease. The patient's mother stated that his brother had been hospitalized for a long time after abdominal surgery. Finally, the patient was diagnosed with DM, which is known to cause post-anesthetic dysphagia. Recognizing the existence of severe destructive cervical spondylitis associated with SAPHO is crucial. Although DM is not very common, it is not classified as extremely rare. Therefore, surgeons should be mindful of the potential risks associated with general anesthesia in patients with DM. The complexity of preoperative conditions may hinder an accurate diagnosis. Recognizing and establishing preoperative expectations can assist surgeons in preventing complications, even if complex spinal surgery is required for patients with DM.
PubMed: 38496079
DOI: 10.7759/cureus.54271