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Journal of Autoimmunity Apr 2024Chronic nonbacterial osteomyelitis (CNO), an autoinflammatory bone disease primarily affecting children, can cause pain, hyperostosis and fractures, affecting...
Chronic nonbacterial osteomyelitis (CNO), an autoinflammatory bone disease primarily affecting children, can cause pain, hyperostosis and fractures, affecting quality-of-life and psychomotor development. This study investigated CNO-associated variants in P2RX7, encoding for the ATP-dependent trans-membrane K channel P2X7, and their effects on NLRP3 inflammasome assembly. Whole exome sequencing in two related transgenerational CNO patients, and target sequencing of P2RX7 in a large CNO cohort (N = 190) were conducted. Results were compared with publicly available datasets and regional controls (N = 1873). Findings were integrated with demographic and clinical data. Patient-derived monocytes and genetically modified THP-1 cells were used to investigate potassium flux, inflammasome assembly, pyroptosis, and cytokine release. Rare presumably damaging P2RX7 variants were identified in two related CNO patients. Targeted P2RX7 sequencing identified 62 CNO patients with rare variants (32.4%), 11 of which (5.8%) carried presumably damaging variants (MAF <1%, SIFT "deleterious", Polyphen "probably damaging", CADD >20). This compared to 83 of 1873 controls (4.4%), 36 with rare and presumably damaging variants (1.9%). Across the CNO cohort, rare variants unique to one (Median: 42 versus 3.7) or more (≤11 patients) participants were over-represented when compared to 190 randomly selected controls. Patients with rare damaging variants more frequently experienced gastrointestinal symptoms and lymphadenopathy while having less spinal, joint and skin involvement (psoriasis). Monocyte-derived macrophages from patients, and genetically modified THP-1-derived macrophages reconstituted with CNO-associated P2RX7 variants exhibited altered potassium flux, inflammasome assembly, IL-1β and IL-18 release, and pyroptosis. Damaging P2RX7 variants occur in a small subset of CNO patients, and rare P2RX7 variants may represent a CNO risk factor. Observations argue for inflammasome inhibition and/or cytokine blockade and may allow future patient stratification and individualized care.
Topics: Humans; Cytokines; Inflammasomes; Osteomyelitis; Potassium; Pyroptosis; Receptors, Purinergic P2X7
PubMed: 38401466
DOI: 10.1016/j.jaut.2024.103183 -
Microorganisms Feb 2024We aimed to evaluate the occurrence of infective endocarditis (IE) among patients with bone and joint infections (BJIs) and bacteraemia. This observational study was...
We aimed to evaluate the occurrence of infective endocarditis (IE) among patients with bone and joint infections (BJIs) and bacteraemia. This observational study was conducted at Lausanne University Hospital, Switzerland, from 2014 to 2023, and included episodes involving BJI, bacteraemia, and cardiac imaging studies. The endocarditis team defined IE. Among the 384 included episodes, 289 (75%) involved native BJI (NBJI; 118 septic arthritis, 105 acute vertebral or non-vertebral osteomyelitis, 101 chronic osteitis), and 112 (29%) involved orthopedic implant-associated infection (OIAI; 78 prosthetic joint infection and 35 osteosynthesis/spondylodesis infection). Fifty-one episodes involved two or more types of BJI, with 17 episodes exhibiting both NBJI and OIAI. IE was diagnosed in 102 (27%) episodes. IE prevalence was 31% among patients with NBJI and 13% among patients with OIAI ( < 0.001). The study revealed a high prevalence of IE among bacteraemic patients with NBJI, with notably lower prevalence among those with OIAI.
PubMed: 38399746
DOI: 10.3390/microorganisms12020342 -
Journal of Medical Case Reports Feb 2024The synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare condition. Its treatment remains a challenge for clinicians, and often yields...
INTRODUCTION
The synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare condition. Its treatment remains a challenge for clinicians, and often yields mixed results.
CASE
We report the case of a 51-year-old Caucasian woman who presented with SAPHO syndrome with mainly axial involvement. She had been treated with sulfasalazine and anti-inflammatory drugs for many years without any success. A few weeks after starting treatment with tofacitinib, both clinical and biological parameters dramatically improved. Imaging also showed considerable regression of the vertebral and pelvic lesions. However, tofacitinib had to be discontinued due to the occurrence of pulmonary embolism. Consequently, recurrence of bone pain and biologic inflammation was rapidly observed.
CONCLUSIONS
Anti-JAKs are an interesting treatment option in the management of SAPHO syndrome that need further clinical trials and assessment for validating response.
Topics: Female; Humans; Middle Aged; Acquired Hyperostosis Syndrome; Osteitis; Hyperostosis; Synovitis; Acne Vulgaris; Piperidines; Pyrimidines
PubMed: 38360816
DOI: 10.1186/s13256-024-04366-w -
Cureus Jan 2024The present study is a randomized trial for comparing the effectiveness of tranexamic acid as an antifibrinolytic agent in preventing alveolar osteitis in the...
OBJECTIVES
The present study is a randomized trial for comparing the effectiveness of tranexamic acid as an antifibrinolytic agent in preventing alveolar osteitis in the post-extraction period in patients receiving orthodontic therapy that requires extraction.
METHODOLOGY
This research was carried out in the Department of Oral and Maxillofacial Surgery, Saveetha Dental College and Hospitals, Chennai, India. A total of 40 patients were considered subjects for the research. Patients undergoing orthodontic treatment referred to the Department of Oral and Maxillofacial Surgery for the therapeutic extractions of the first premolars were considered for this study. Randomization was done to split the population into study and control. After the atraumatic extraction of the first premolars under local anesthesia using 2% lignocaine with 1:80000 adrenaline, a tranexamic acid solution of 500 mg soaked gauze over the extraction sockets was used as the intervention in the study group, and plain gauze was used on the control group. Patients were asked to hold the gauze in place for one hour. Participants were reviewed after three days for the incidence of alveolar osteitis and pain severity and healing of the extraction sockets. Results: The prevalence of Alveolitis sicca dolorosa was found to be 5% in the research group and 15% in the control group. Patients in the control group showed more pain than the patients in the research group. The period taken for healing ranged from 7 days to 10 days in the control group and 10 days to 12 days in the study group. Conclusion: This study gives an edge that tranexamic acid can be used as a local hemostatic agent in preventing fibrinolysis of clots and preventing alveolar osteitis.
PubMed: 38327915
DOI: 10.7759/cureus.51816 -
Seminars in Arthritis and Rheumatism Apr 2024To develop a reference image atlas for scoring the hip/pelvis region according to the OMERACT whole-body MRI scoring system for inflammation in peripheral joints and...
Hip and pelvis region MRI reference image atlas for scoring inflammation in peripheral joints and entheses according to the OMERACT-MRI WIPE scoring system in patients with spondyloarthritis.
OBJECTIVE
To develop a reference image atlas for scoring the hip/pelvis region according to the OMERACT whole-body MRI scoring system for inflammation in peripheral joints and entheses (MRI-WIPE).
METHODS
We collected image examples of each pathology, location and grade, discussed them at web-based, interactive meetings and, finally, selected reference images by consensus.
RESULTS
Reference images for each grade and location of osteitis, synovitis and soft tissue inflammation are provided, as are definitions, reader rules and recommended MRI-sequences.
CONCLUSION
A reference image atlas was created to guide scoring whole-body MRIs for arthritis and enthesitis in the hip/pelvis region in spondyloarthritis/psoriatic arthritis clinical trials and cohorts.
Topics: Humans; Inflammation; Spondylarthritis; Synovitis; Magnetic Resonance Imaging; Pelvis; Reproducibility of Results
PubMed: 38325055
DOI: 10.1016/j.semarthrit.2024.152383 -
JSES Reviews, Reports, and Techniques Feb 2024
PubMed: 38323213
DOI: 10.1016/j.xrrt.2023.10.002 -
Journal of Orthopaedic Case Reports Jan 2024Primary hyperparathyroidism (PHPT) is an intrinsic abnormality of the parathyroid glands in which there is an inappropriate secretion of parathormone (PTH), resulting in...
INTRODUCTION
Primary hyperparathyroidism (PHPT) is an intrinsic abnormality of the parathyroid glands in which there is an inappropriate secretion of parathormone (PTH), resulting in skeletal resorption and bone loss. The characteristic bony changes of fibrotic cystic lesions are called Brown's tumors. Clinical dilemmas exist due to the varied clinical presentation of hypercalcemia with multiple lytic lesions mimicking metastatic bone disease. The 99 mTc sestamibi scanning is the imaging modality of choice used for the preoperative localization of parathyroid adenomas. Surgery provides a definitive treatment, and the bony lesions resolve completely over a period of time.
CASE REPORT
We present four cases of PHPT where they presented with multiple lytic lesions and were evaluated for metastatic deposits. The diagnosis was confirmed with a biopsy. They were successfully treated by excision of the parathyroid gland. A high index of suspicion will avoid misdiagnosis and inappropriate treatment.
CONCLUSION
PHPT must be considered as a differential diagnosis for multiple osteolytic bone lesions. Diagnosis can be aided by a thorough clinical examination, including an assessment for neck swelling, and laboratory testing of serum calcium levels and PTH levels. Surgical excision of the hyperactive gland serves as the definitive treatment for this condition, with bony lesions regressing gradually over time.
PubMed: 38292108
DOI: 10.13107/jocr.2024.v14.i01.4158 -
Medicina Oral, Patologia Oral Y Cirugia... Jan 2024Dry socket (DS) or fibrinolytic osteitis is a relatively common complication that can occur following tooth extraction. This study aimed to determine the prevalence of...
BACKGROUND
Dry socket (DS) or fibrinolytic osteitis is a relatively common complication that can occur following tooth extraction. This study aimed to determine the prevalence of DS and identify its associated predictive and mediating variables.
MATERIAL AND METHODS
This study is classified as prospective observational, cross-sectional, and multicenter. Patients were consecutively selected in accordance with established criteria for tooth extraction. Data on patient demographics, surgical procedures and postoperative outcomes were collected. Nominal variables were analyzed using the Chi-Square Test, while associations involving ordinal values or considering counts or layers were examined using the Kendall's Tau-B Test or Mantel-Haenszel Test for trend. The GLM Mediation Model was employed to investigate potential mediation or indirect effects or potential underlying mechanisms of predictive variables on the development of DS. Two-tailed significance level of p ≤0.05 was considered statistically significant.
RESULTS
A total of 1,357 patients undergoing routine dental extractions were included. DS was observed in 13 patients (prevalence of 1%). DS was associated with younger patients (under 50 years old), longer procedures, and the presence of surgical accidents, but only when mediated by surgical complexity. Smoking, particularly in combination with complex surgeries and surgical accidents, was associated with DS. Postoperative pain for more than two days and reported at moderate to high levels, emerged as a potential warning sign for DS. The use of antibiotics was found to significantly reduce the risk of DS (RR reduction of 36% and absolute risk reduction of 0.63%).
CONCLUSIONS
Routine dental extractions revealed a 1% prevalence of dry socket. The obtained results suggests that DS is a multifactorial condition influenced by various factors, including gender, age, smoking, antibiotic prescription and surgical factors such as length, technique and accidents, nevertheless, those associations were observed mainly considering the influence of one variable on another.
PubMed: 38288852
DOI: 10.4317/medoral.26391 -
Malaria Journal Jan 2024Sri Lanka after eliminating malaria in 2012, is in the prevention of re-establishment (POR) phase. Being a tropical country with high malariogenic potential, maintaining...
BACKGROUND
Sri Lanka after eliminating malaria in 2012, is in the prevention of re-establishment (POR) phase. Being a tropical country with high malariogenic potential, maintaining vigilance is important. All malaria cases are investigated epidemiologically and followed up by integrated drug efficacy surveillance (iDES). Occasionally, that alone is not adequate to differentiate Plasmodium falciparum reinfections from recrudescences. This study evaluated the World Health Organization and Medicines for Malaria Venture (MMV) recommended genotyping protocol for the merozoite surface proteins (msp1, msp2) and the glutamate-rich protein (glurp) to discriminate P. falciparum recrudescence from reinfection in POR phase.
METHODS
All P. falciparum patients detected from April 2014 to December 2019 were included in this study. Patients were treated and followed up by iDES up to 28 days and were advised to get tested if they develop fever at any time over the following year. Basic socio-demographic information including history of travel was obtained. Details of the malariogenic potential and reactive entomological and parasitological surveillance carried out by the Anti Malaria Campaign to exclude the possibility of local transmission were also collected. The msp1, msp2, and glurp genotyping was performed for initial and any recurrent infections. Classification of recurrent infections as recrudescence or reinfection was done based on epidemiological findings and was compared with the genotyping outcome.
RESULTS
Among 106 P. falciparum patients, six had recurrent infections. All the initial infections were imported, with a history of travel to malaria endemic countries. In all instances, the reactive entomological and parasitological surveillance had no evidence for local transmission. Five recurrences occurred within 28 days of follow-up and were classified as recrudescence. They have not travelled to malaria endemic countries between the initial and recurrent infections. The other had a recurrent infection after 105 days. It was assumed a reinfection, as he had travelled to the same malaria endemic country in between the two malaria attacks. Genotyping confirmed the recrudescence and the reinfection.
CONCLUSIONS
The msp1, msp2 and glurp genotyping method accurately differentiated reinfections from recrudescence. Since reinfection without a history of travel to a malaria endemic country would mean local transmission, combining genotyping outcome with epidemiological findings will assist classifying malaria cases without any ambiguity.
Topics: Male; Humans; Merozoite Surface Protein 1; Plasmodium falciparum; Reinfection; Protozoan Proteins; Antigens, Protozoan; Genotype; Glutamic Acid; Sri Lanka; Genetic Variation; Malaria, Falciparum; Recurrence; Osteitis Deformans; Myositis, Inclusion Body; Muscular Dystrophies, Limb-Girdle; Frontotemporal Dementia
PubMed: 38281044
DOI: 10.1186/s12936-024-04858-6 -
BMC Oral Health Jan 2024The aim of our study is to evaluate the postoperative complications after the extraction of impacted third molar teeth and to investigate the effects of these...
BACKGROUND
The aim of our study is to evaluate the postoperative complications after the extraction of impacted third molar teeth and to investigate the effects of these complications on the quality of life of patients.
METHODS
Demographic, clinical, and radiological evaluations were conducted, covering factors like age, gender, and tooth position. Clinical measurements, pain and edema assessments, and quality of life evaluations through OHIP-14 scores were performed. Preoperative and postoperative mouth opening, trismus, alveolitis and dehiscence were evaluated.
RESULTS
A total of 100 patients were included in our study. No significant gender-based differences were found in measurements, pain, or swelling. There was no statistically significant difference between the preoperative and postoperative results of difference A-C, difference B-E, difference A-D, and difference mouth opening. Procedure duration correlated positively with age, alveolar osteitis, trismus, and swelling. Postoperative quality of life, assessed by OHIP-14, demonstrated a negative correlation with age and trismus. It was observed that the gender and the tooth positions of the patients had no effect on the severity of postoperative pain and edema.
CONCLUSIONS
As the age of the patients increases and the duration of the procedure increases, the rate of postoperative complications increases and it is concluded that the quality of life decreases significantly.
Topics: Humans; Molar, Third; Trismus; Quality of Life; Tooth Extraction; Tooth, Impacted; Postoperative Complications; Pain, Postoperative; Edema
PubMed: 38273294
DOI: 10.1186/s12903-024-03877-8