-
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 -
Clinical, Cosmetic and Investigational... 2024Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a rare immune-mediated inflammatory disease, poses diagnostic and therapeutic challenges owing...
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a rare immune-mediated inflammatory disease, poses diagnostic and therapeutic challenges owing to its multi-system involvement, high heterogeneity, and lack of specific laboratory tests. Additionally, lacking evidence-based treatment recommendations, with the primary approach focusing on symptomatic relief. Herein, we report the case of a 32-year-old Chinese woman who presented with recurrent, generalized multiple osteoarticular pain lasting over one year and skin erythema pustulosis for 11 months. Traditional treatments, including non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, disease-modifying antirheumatic drugs (DMARDs), and other traditional approaches, yielded no significant effects. Despite the prior use of adalimumab and acitretin capsules, the treatment remained unsatisfying, especially regarding the skin lesions. Considering the complex pathogenesis of SAPHO syndrome, the patient was orally administered baricitinib (2 mg), a Janus kinase (JAK) inhibitor, twice daily. A notable improvement in both skin lesions and osteoarticular pain was observed within two weeks of treatment initiation. Subsequently, the dosage of baricitinib was halved and continued for an additional three months, during which regular follow-ups revealed neither disease recurrence nor adverse effects. Collectively, the successful treatment of refractory SAPHO syndrome with baricitinib presents a promising implication for addressing the therapeutic challenges of this rare autoimmune condition, offering a potential breakthrough in managing its complex manifestations.
PubMed: 38463557
DOI: 10.2147/CCID.S446468 -
Current Osteoporosis Reports Apr 2024To describe the contributions of osteocytes to the lesions in Paget's disease, which are characterized by locally overactive bone resorption and formation. (Review)
Review
PURPOSE OF REVIEW
To describe the contributions of osteocytes to the lesions in Paget's disease, which are characterized by locally overactive bone resorption and formation.
RECENT FINDINGS
Osteocytes, the most abundant cells in bone, are altered in Paget's disease lesions, displaying increased size, decreased canalicular length, incomplete differentiation, and less sclerostin expression compared to controls in both patients and mouse models. Pagetic lesions show increased senescent osteocytes that express RANK ligand, which drives osteoclastic bone resorption. Abnormal osteoclasts in Paget's disease secrete abundant IGF1, which enhances osteocyte senescence, contributing to lesion formation. Recent data suggest that osteocytes contribute to lesion formation in Paget's disease by responding to high local IGF1 released from abnormal osteoclasts. Here we describe the characteristics of osteocytes in Paget's disease and their role in bone lesion formation based on recent results with mouse models and supported by patient data.
Topics: Osteitis Deformans; Osteocytes; Humans; Animals; Osteoclasts; RANK Ligand; Bone Resorption; Mice; Insulin-Like Growth Factor I; Disease Models, Animal; Cellular Senescence
PubMed: 38457001
DOI: 10.1007/s11914-024-00863-5 -
Acta Veterinaria Scandinavica Mar 2024The white rhinoceros (Ceratotherium simum) is close to extinction, listed as "Near Threatened", with a decreasing population on the Red List of Threatened Species of the...
BACKGROUND
The white rhinoceros (Ceratotherium simum) is close to extinction, listed as "Near Threatened", with a decreasing population on the Red List of Threatened Species of the International Union for Conservation of Nature. In at least 50% of the specimens in captivity, podiatric diseases, such as osteitis, osteomyelitis, chip fractures, enthesophytes, fractures and osteoarthritis were found during necropsy. These osteal deformations cause further pathogenic alterations in the soft tissues, particularly in the digital cushion. The literature provides good description of the skeleton of the rhino's limbs, but similar for the vascular system is non-existent. In order to recognize the symptoms in an early state and for a successful surgical treatment, precise knowledge of the vascular anatomy is essential. The purpose of our study was to provide detailed anatomical description of the blood supply of the digits and that of the digital cushion.
RESULTS
The blood supply of the distal foot, digits and digital cushions were perfectly visible on the reconstructed and coloured 3D models. The deep palmar arch provided not only the blood supply to the digits but had a palmaro-distal running branch which developed a trifurcation proximal to the proximal sesamoid bones of the third digit. Two of its branches participated in the blood supply of the digits' proximal palmar surface, while the major branch supplied the digital cushion from proximal direction.
CONCLUSIONS
Our findings show a unique blood supply: the main vessels of the digital cushion stem both directly from the deep palmar arch and from the digits' own arteries. The detailed description of vessels may be useful in planning surgery of the region and also in cases where the veins of the ear are not accessible.
Topics: Animals; Imaging, Three-Dimensional; Perissodactyla; Tomography, X-Ray Computed
PubMed: 38454467
DOI: 10.1186/s13028-024-00732-2 -
Diabetes & Metabolism May 2024We aimed to assess the feasibility and diagnostic performance of ultrasound-guided bone biopsies at the bedside of diabetic patients admitted for suspected foot osteitis...
OBJECTIVE
We aimed to assess the feasibility and diagnostic performance of ultrasound-guided bone biopsies at the bedside of diabetic patients admitted for suspected foot osteitis not requiring surgery.
RESEARCH DESIGN AND METHODS
In this retrospective monocentric study, we compared the performance of ultrasound-guided (n = 29 consecutive patients, Dec.2020-Oct.2022) versus surgical (n = 24 consecutive patients, Jan.2018-Nov.2020) bone biopsies at confirming or ruling out diabetic foot osteitis (primary outcome).
RESULTS
Patient characteristics were similar in the two intervention groups, including arteritis prevalence (62.3 %), SINBAD score, and wound location (phalanges 36 %, metatarsus 43 %, and calcaneus 21 %). However, the ultrasound-guided group was older (67 ± 11 versus 60 ± 13 years respectively, P = 0.047) and had more type 2 diabetes (97 % versus 75 %, P = 0.038). Diagnostic performance (i.e., capacity to confirm or rule out suspected osteitis) was similar for ultrasound-guided (28/29 cases: 25 confirmations, 3 invalidations) and surgical (24 confirmations/24) biopsies, P = 0.358. No biopsy-related side effect or complication was observed for either intervention, even for patients on antiaggregation and/or anticoagulation therapy. The mean (± standard deviation) time necessary to perform the biopsy was shorter in the ultrasound-guided group (2.6 ± 3.0 versus 7.2 ± 5.8 days, respectively, P < 0.001) and wound evolution at three months was more favorable (83.3 versus 41.2 %, P = 0.005) (94.4 % versus 66.7 %, respectively, patients with new surgical procedure within six months excluded; P = 0.055). Even though not statistically significant, healing rates in terms of wound and osteitis at six months were also better in the ultrasound-guided group (wound: 40.9 % versus 36.8 %; P = 0.790, and osteitis: 81.8 vs 55.6 % P = 0.071).
CONCLUSION
In diabetic patients with suspected foot osteitis not requiring surgery, bedside ultrasound-guided bone biopsies may constitute a promising alternative to surgical biopsies. This intervention provided excellent tolerance and microbiological documentation, short lead-times, and more favorable wound prognosis.
Topics: Humans; Diabetic Foot; Male; Female; Middle Aged; Aged; Retrospective Studies; Image-Guided Biopsy; Osteitis; Ultrasonography, Interventional; Bone and Bones
PubMed: 38442769
DOI: 10.1016/j.diabet.2024.101525 -
Cureus Feb 2024Idiopathic osteosclerosis (IO) is described as a localized radiopacity of unknown etiology. Also known as dense bone islands, enostoses, bone scar, or focal periapical...
Idiopathic osteosclerosis (IO) is described as a localized radiopacity of unknown etiology. Also known as dense bone islands, enostoses, bone scar, or focal periapical osteopetrosis, it is generally clinically asymptomatic and appears round, elliptical, or irregular in shape on a radiograph. The internal structure is usually homogenous. It should be distinguished from condensing osteitis and other alveolar bone-related radiopacities. This condition may cause changes in tooth position or interfere with orthodontic treatment. Two cases of IO involving the maxilla and mandible are highlighted. Both patients were females and presented with complaints of malocclusion and desired orthodontic correction. One case was detected incidentally on routine radiographic examination of the patient. In contrast, the other case presented as an expansile lesion lingual to the left mandibular first molar and second premolar. Radiographically, both lesions appeared as well-defined radiopaque masses with no surrounding radiolucent rim; the maxillary lesion was irregular in shape, while the mandibular lesion was elliptical. Both patients underwent orthodontic treatment without any adverse sequelae. The clinical and radiographic findings are discussed to facilitate the diagnosis of radiopacities of jaws. Usually asymptomatic and of no clinical significance, IO may occasionally induce root resorption, traumatic occlusion, traumatic/pathologic migration of teeth, and inhibit eruption of teeth. Though orthodontic tooth movement through areas of IO can be undertaken, the rate of tooth movement may be slower due to higher trabecular bone density. Lower force levels are warranted to avoid adverse effects like root resorption and bone hyalinization.
PubMed: 38435170
DOI: 10.7759/cureus.53426 -
Cureus Feb 2024Background The surgical removal of mandibular third molars is one of the most common procedures in dentistry. Researchers have extensively studied the treatment of...
Efficacy of Hydrocortisone, Povidone-Iodine, and Normal Saline as an Irrigating Solution During Surgical Removal of Impacted Mandibular Third Molars: A Randomized Controlled Trial.
Background The surgical removal of mandibular third molars is one of the most common procedures in dentistry. Researchers have extensively studied the treatment of postoperative sequelae such as pain, edema, trismus, and alveolar osteitis throughout the past six decades. Many approaches have been used to address clinical difficulties after third molar surgery, including various flap designs and irrigating solutions. The aim of this study was to compare the effects of three irrigating solutions, hydrocortisone, povidone-iodine, and normal saline, on pain, trismus, and edema following surgical removal of the impacted mandibular third molar. Methodology The study involved 105 participants who required surgical extraction of mandibular third molars. The patients' ages ranged from 18 to 40 years, and they fulfilled the inclusion criteria. Using a simple random sampling technique, they were divided into three groups (group 1: hydrocortisone, group 2: povidone-iodine, group 3: normal saline). The parameters evaluated were edema, pain, and trismus on the second and seventh postoperative days. All data were input into Microsoft Excel (Microsoft Corp., Redmond, USA) worksheets and analyzed using Stata 17.0 (StataCorp LLC, College Station, USA). The visual analog scale (VAS) score was used to measure postoperative pain, and postoperative swelling was measured using linear measurements from four fixed anatomical points and compared to preoperative values. To assess trismus, the inter-incisal distance was measured in millimeters with a caliper. A p-value of <0.01 was considered statistically significant. Results The mean VAS score for pain in group 1 was lower than the other two groups. The effect of group 1 was significant on the second postoperative day but insignificant on the seventh postoperative day for swelling. The effect of all three groups on trismus was significant on the second and seventh days. Conclusions Hydrocortisone as an irrigating solution showed promising results in managing postoperative swelling in the first 48 hours, but its effect gradually declined by the seventh postoperative day. Additionally, it was effective in controlling postoperative pain and trismus. This suggests that utilizing hydrocortisone as an irrigating solution, compared to povidone-iodine, has been proven to be a significantly effective option in reducing postoperative pain, edema, and trismus resulting from the surgical removal of impacted teeth.
PubMed: 38435159
DOI: 10.7759/cureus.53370 -
Clinical Oral Investigations Mar 2024To investigate the oral manifestations in women of reproductive age using hormonal contraceptive methods. (Review)
Review
OBJECTIVES
To investigate the oral manifestations in women of reproductive age using hormonal contraceptive methods.
MATERIALS AND METHODS
This review is based on the PRISMA statement. A literature search incorporated observational studies from the last 21 years. An investigative question was formulated using the PICO model, studies were selected, and a quality analysis was performed using the modified STROBE guidelines. A bibliometric analysis was performed, and the data were examined.
RESULTS
Thirteen articles were included, with the majority evaluating periodontal status. Others analyzed factors such as the presence of alveolar osteitis, oral candidiasis, and salivary microbiome dysbiosis. Ten articles were deemed to have a low risk of bias.
CONCLUSIONS
Hormonal contraceptives may increase the risk of alveolar osteitis following tooth extraction and increase the presence of the Candida species in the oral cavity. They also affect the periodontium, such as the frequent development of gingivitis, but do not lead to changes in the salivary microbiome.
CLINICAL RELEVANCE
The increasing number of women using hormonal contraceptives and the knowledge that these contraceptives can produce oral cavity alterations underscore the need to evaluate the oral manifestations found in these women.
Topics: Female; Humans; Dry Socket; Contraceptives, Oral, Hormonal; Periodontium; Gingivitis; Contraception
PubMed: 38427087
DOI: 10.1007/s00784-024-05573-x -
Journal of Oral Science Apr 2024Alveolar osteitis (dry sockets) is a painful condition characterized by a limited immune response. It is typically caused by the removal of blood clots from extracted...
PURPOSE
Alveolar osteitis (dry sockets) is a painful condition characterized by a limited immune response. It is typically caused by the removal of blood clots from extracted tooth sockets, which leads to the fermentation of trapped food remnants by oral bacteria in the cavities, producing high concentrations of short-chain fatty acids (SCFAs). This study examined the effects of SCFAs on immunity and bone metabolism.
METHODS
Mouse macrophage Raw264.7 cells were treated with oral bacteria supernatants or SCFA mixtures, and inducible nitric oxide synthase (iNOS) levels were determined by western blot. The same cells were treated with SCFA mixtures in the presence of receptor activator of nuclear factor-kappa B ligand (RANKL), and osteoclast-like cells were counted. MC3T3-E1 cells were treated with SCFA mixtures and stained with alizarin red S.
RESULTS
Raw264.7 cells treated with oral bacterial culture supernatants of Porphyromonas gingivalis and Fusobacterium nucleatum inhibited lipopolysaccharide (LPS)-induced iNOS production, likely due to SCFA content. SCFA mixtures mimicking these supernatants inhibited the number of RANKL-induced tartrate-resistant acid phosphatase (TRAP)-positive cells and MC3T3-E1 cell mineralization.
CONCLUSION
These data suggest that SCFAs produced by P. gingivalis and F. nucleatum may reduce the inflammatory response and mildly induce mineralization of the alveolar walls. These results may contribute to the understanding of alveolar osteitis.
Topics: Mice; Animals; Dry Socket; Osteoclasts; Porphyromonas gingivalis; Tartrate-Resistant Acid Phosphatase; Fatty Acids, Volatile
PubMed: 38417878
DOI: 10.2334/josnusd.23-0410