-
Frontiers in Endocrinology 2020Bone biopsies have been obtained for many centuries and are one of the oldest known medical procedures in history. Despite the introduction of new noninvasive...
Bone biopsies have been obtained for many centuries and are one of the oldest known medical procedures in history. Despite the introduction of new noninvasive radiographic imaging techniques and genetic analyses, bone biopsies are still valuable in the diagnosis of bone diseases. Advanced techniques for the assessment of bone quality in bone biopsies, which have emerged during the last decades, allows in-depth tissue analyses beyond structural changes visible in bone histology. In this review, we give an overview of the application and advantages of the advanced techniques for the analysis of bone biopsies in the clinical setting of various rare metabolic bone diseases. A systematic literature search on rare metabolic bone diseases and analyzing techniques of bone biopsies was performed in PubMed up to 2019 week 34. Advanced techniques for the analysis of bone biopsies were described for rare metabolic bone disorders including Paget's disease of bone, osteogenesis imperfecta, fibrous dysplasia, Fibrodysplasia ossificans progressiva, X-linked osteoporosis, Loeys-Diets syndrome, osteopetrosis, Erdheim-Chester disease, and Cherubism. A variety of advanced available analytical techniques were identified that may help to provide additional detail on cellular, structural, and compositional characteristics in rare bone diseases complementing classical histopathology. To date, these techniques have only been used in research and not in daily clinical practice. Clinical application of bone quality assessment techniques depends upon several aspects such as availability of the technique in hospitals, the existence of reference data, and a cooperative network of researchers and clinicians. The evaluation of rare metabolic bone disorders requires a repertoire of different methods, owing to their distinct bone tissue characteristics. The broader use of bone material obtained from biopsies could provide much more information about pathophysiology or treatment options and establish bone biopsies as a valuable tool in rare metabolic bone diseases.
Topics: Biopsy; Bone Diseases; Fibrous Dysplasia of Bone; Humans; Loeys-Dietz Syndrome; Myositis Ossificans; Osteitis Deformans; Osteogenesis Imperfecta; Osteopetrosis; Osteoporosis; Rare Diseases
PubMed: 32714279
DOI: 10.3389/fendo.2020.00399 -
The Journal of Arthroplasty Jul 2023Patients who have Paget's Disease more frequently require total hip arthroplasty (THA) and total knee arthroplasty (TKA) than matched controls. However, controversy...
BACKGROUND
Patients who have Paget's Disease more frequently require total hip arthroplasty (THA) and total knee arthroplasty (TKA) than matched controls. However, controversy remains regarding their outcome. We aimed to evaluate the literature regarding outcomes following THA and TKA in patients who have Paget's Disease.
METHODS
MEDLINE, EMBASE and Cochrane databases were searched for all articles evaluating outcomes following THA and TKA in patients who have Paget's Disease. Quality of included studies was assessed using the Newcastle-Ottawa Scale.
RESULTS
A total of 19 articles (published between 1976 and 2022) were included, comprising 58,695 patients (48,766 controls and 10,018 patients who have Pagets Disease), from 209 potentially relevant titles. Patients with Paget's Disease have a pooled mortality of 32.5% at a mean of 7.8 years (range, 0.1 to 20) following THA and 31.0% at a mean of 8.5 years (range, 2 to 20) following TKA, with a pooled revision rate of 4.4% at 7.2 years (range, 0 to 20) following THA and 2.2% at 7.4 years (range, 2 to 20) following TKA. Renal and respiratory complications, as well as heterotopic ossification and surgical-site infection were the most common post-operative complications.
CONCLUSION
There is marked heterogeneity in outcome reporting of studies assessing arthroplasty in patients who have Paget's Disease, with studies of low to moderate quality. Patients with Paget's Disease undergoing THA and TKA appear to have similar implant longevity as their unaffected counterparts. However, they appear to have an increased risk of medical and surgical complications and may have a higher mortality risk from their procedure.
Topics: Humans; Arthroplasty, Replacement, Knee; Osteitis Deformans; Arthroplasty, Replacement, Hip; Surgical Wound Infection; Postoperative Complications
PubMed: 36639114
DOI: 10.1016/j.arth.2023.01.004 -
Reviews in Endocrine & Metabolic... Dec 2020Paget's disease of bone (PDB) is a metabolic bone disease with distinct geographical and ethnic differences in its pathogenesis. In this study, we aimed to...
Paget's disease of bone (PDB) is a metabolic bone disease with distinct geographical and ethnic differences in its pathogenesis. In this study, we aimed to retrospectively analyze the clinical features and the status of diagnosis and treatment of PDB in mainland China to improve the clinician's understanding of this disease. For this purpose, we conducted a systematic review of 118 articles, including a total of 332 patients with PDB. The results showed that the onset age of PDB in mainland China was 46-60 years. The number of male patients in most age groups was slightly higher than that of female patients, but there was no statistical difference (p > 0.05). The gender ratio (male to female) of PDB in mainland China was significantly different from that in Japan (p < 0.05), but not from that in the USA (p > 0.05). The clinical manifestations of PDB patients in mainland China mainly included ostealgia, bone malformation, hearing loss, and fracture, and bisphosphonate was used as the main treatment drug. These findings were similar to those in Japan, UK, and USA. Total alkaline phosphatase (TALP) level was elevated in about 89.7% of patients, and no correlation between TALP level and ostealgia was observed (p > 0.05). In addition, no difference in TALP level between males and females in each group was observed (p > 0.05).
Topics: Adult; Aged; Aged, 80 and over; China; Female; Humans; Male; Middle Aged; Osteitis Deformans
PubMed: 32115673
DOI: 10.1007/s11154-020-09544-x -
World Neurosurgery Mar 2020Paget's disease of the bone (PDB) is a focal bone disorder characterized by excessive resorption and deposition of pathologic bone. It can involve the skull and cause...
OBJECTIVE
Paget's disease of the bone (PDB) is a focal bone disorder characterized by excessive resorption and deposition of pathologic bone. It can involve the skull and cause neurologic dysfunction. Hydrocephalus occurring as a complication has also been reported. However, owing to its rarity, the optimal treatment has not yet been determined.
METHODS
We report the case of a 60-year-old woman with a diagnosis of PDB who had presented with symptomatic hydrocephalus and was successfully treated with ventriculoperitoneal shunt insertion. We also performed a systematic review of the Scopus and PubMed databases for case reports and series documenting patients with PDB complicated by hydrocephalus and discussed the clinical features and therapeutic strategies used.
RESULTS
We found 28 cases of PDB complicated by hydrocephalus in reported studies, including the present case. The median age was 67 years (range, 48-85 years; interquartile range, 7 years), with a female sex predilection. The most common neurologic manifestations were cognitive impairment, gait unsteadiness, urinary incontinence, hearing loss, and headache. Surgery had been performed in 73% of the 28 cases. The most common operation was insertion of a ventriculoperitoneal shunt (63.2%). Cerebrospinal fluid diversion resulted in significant or complete neurologic recovery in 78.9% of the 28 patients. Posterior fossa decompression was performed in 15.8% of operative cases but did not significantly alter the clinical course.
CONCLUSION
Patients with hydrocephalus occurring as a complication of PDB will most commonly present with cognitive impairment, gait unsteadiness, and urinary incontinence. Surgery plays an important role in the treatment, with CSF diversion procedures resulting in significant neurologic recovery in most cases.
Topics: Aged; Aged, 80 and over; Female; Humans; Hydrocephalus; Male; Middle Aged; Osteitis Deformans; Ventriculoperitoneal Shunt
PubMed: 31881339
DOI: 10.1016/j.wneu.2019.12.099