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Journal of Bone and Mineral Research :... Dec 2019
Topics: Biomarkers; Humans; Osteitis Deformans; Practice Guidelines as Topic
PubMed: 31651997
DOI: 10.1002/jbmr.3873 -
Medicine Oct 2019Asymptomatic Paget disease of bone (PDB) is mostly diagnosed by accidental finding of osteolytic lesion on the plain film. However, in elderly patient with chronic renal...
RATIONALE
Asymptomatic Paget disease of bone (PDB) is mostly diagnosed by accidental finding of osteolytic lesion on the plain film. However, in elderly patient with chronic renal insufficiency and weight loss, it is crucial to differentiate PDB from metabolic and metastatic bone diseases for further treatment and better outcome.
PATIENT CONCERNS
An 80-year-old man with chronic kidney disease presented to our emergency department due to fever with chillness for a day, while the abdominal fullness, anorexia, and weight loss had been noted for 3 months. Mixed osteoblastic and lytic changes in the pelvic bone were accidentally found on the abdominal plain film.
DIAGNOSIS
The patient was diagnosed as asymptomatic PDB and urinary tract infection of Pseudomonas aeruginosa.
INTERVENTIONS AND OUTCOME
The patient received 7 days intravenous and followed by 7 days oral antibiotic treatment, which lead to clinical improvement of his urinary tract infection. No pharmacological treatment was initiated for the asymptomatic and localized PDB. The patient was discharged under stable condition afterward.
LESSONS
In patients with mixed osteolytic and blastic lesions, the differential diagnoses include metabolic and metastatic bone disease. Thorough understanding of the morphology of the bone lesions in high risk patient, not only helps to make differential diagnosis, but it also leads to precise treatment and better outcome.
Topics: Aged, 80 and over; Diagnosis, Differential; Humans; Male; Osteitis Deformans; Renal Insufficiency, Chronic; Weight Loss
PubMed: 31626101
DOI: 10.1097/MD.0000000000017458 -
Journal of Bone and Mineral Research :... Dec 2019
Topics: Bone and Bones; Breast Neoplasms; Humans; Osteitis Deformans
PubMed: 31610039
DOI: 10.1002/jbmr.3874 -
Neurobiology of Aging Jan 2020Paget's disease of bone (PDB) is a focal bone disorder affecting the skeleton segmentally. A strong genetic component has been shown in PDB, and variants in several...
Paget's disease of bone (PDB) is a focal bone disorder affecting the skeleton segmentally. A strong genetic component has been shown in PDB, and variants in several genes, such as SQSTM1, VCP, and OPTN, have been associated with the disease. Mutations in the same genes have also been reported in patients with frontotemporal dementia and amyotrophic lateral sclerosis. Hexanucleotide repeat expansions in the C9ORF72 gene have been shown to be responsible for both familial and sporadic frontotemporal dementia/amyotrophic lateral sclerosis. Thence, we evaluated the frequency of the C9ORF72 hexanucleotide repeat expansions in a cohort of 191 Italian PDB patients and in 106 controls. The pathogenic repeat expansion was detected in 2 PDB patients (1.0%). During the follow-up period, both PDB patients did not develop any sign of mental decline and/or motor neuron disease. Our study suggests that repeat expansions in the C9ORF72 gene are rare in patients with PDB.
Topics: Aged; Aged, 80 and over; C9orf72 Protein; Cohort Studies; DNA Repeat Expansion; Female; Follow-Up Studies; Humans; Italy; Male; Middle Aged; Osteitis Deformans; Sequestosome-1 Protein
PubMed: 31530427
DOI: 10.1016/j.neurobiolaging.2019.08.014 -
F1000Research 2019Paget's disease is a condition which continues to challenge and surprise. The dramatic fall in its incidence over the last three decades has been an enormous surprise,... (Review)
Review
Paget's disease is a condition which continues to challenge and surprise. The dramatic fall in its incidence over the last three decades has been an enormous surprise, as is the capacity of a single infusion of the potent bisphosphonate, zoledronate, to produce biochemical remission in 90% of patients, remissions which usually persist for many years and raise the possibility of a cure in some patients. However, challenges in its management remain. The trials carried out in Paget's disease have almost always had biochemical indices as their primary endpoints. From these studies, we also know that bone pain is relieved, quality of life improved, bone histology normalised, and radiological lesions healed. Thus, disease progression is halted. Studies have not been powered to assess whether clinically important endpoints such as fracture and the need for joint replacement surgery are diminished, although these complications are well established as part of the natural history of the condition. Since disease progression is prevented by potent bisphosphonates, it is likely that disease complications will also be prevented. Zoledronate also reduces the frequency of follow-up needed and therefore provides a very cost-effective intervention in those who have symptomatic disease or are at risk of complications.
Topics: Clinical Trials as Topic; Diphosphonates; Disease Management; Disease Progression; Humans; Osteitis Deformans; Quality of Life; Remission Induction; Zoledronic Acid
PubMed: 31489180
DOI: 10.12688/f1000research.19676.1 -
BMJ Open Sep 2019Paget's disease of bone (PDB) is characterised by increased and disorganised bone remodelling affecting one or more skeletal sites. Complications include bone pain,...
Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent -mediated Paget's disease of bone.
INTRODUCTION
Paget's disease of bone (PDB) is characterised by increased and disorganised bone remodelling affecting one or more skeletal sites. Complications include bone pain, deformity, deafness and pathological fractures. Mutations in sequestosome-1 () are strongly associated with the development of PDB. Bisphosphonate therapy can improve bone pain in PDB, but there is no evidence that treatment alters the natural history of PDB or prevents complications. The Zoledronate in the Prevention of Paget's disease trial (ZiPP) will determine if prophylactic therapy with the bisphosphonate zoledronic acid (ZA) can delay or prevent the development of PDB in people who carry mutations.
METHODS AND ANALYSIS
People with a family history of PDB aged >30 years who test positive for mutations are eligible to take part. At the baseline visit, participants will be screened for the presence of bone lesions by radionuclide bone scan. Biochemical markers of bone turnover will be measured and questionnaires completed to assess pain, health-related quality of life (HRQoL), anxiety and depression. Participants will be randomised to receive a single intravenous infusion of 5 mg ZA or placebo and followed up annually for between 4 and 8 years at which point baseline assessments will be repeated. The primary endpoint will be new bone lesions assessed by radionuclide bone scan. Secondary endpoints will include changes in biochemical markers of bone turnover, pain, HRQoL, anxiety, depression and PDB-related skeletal events.
ETHICS AND DISSEMINATION
The study was approved by the Fife and Forth Valley Research Ethics Committee on 22 December 2008 (08/S0501/84). Following completion of the trial, a manuscript will be submitted to a peer-reviewed journal. The results of this trial will inform clinical practice by determining if early intervention with ZA in presymptomatic individuals with mutations can prevent or slow the development of bone lesions with an adverse event profile that is acceptable.
TRIAL REGISTRATION NUMBER
ISRCTN11616770.
Topics: Adult; Anxiety; Bone Density Conservation Agents; Depression; Genetic Testing; Humans; Musculoskeletal Pain; Mutation; Osteitis Deformans; Quality of Life; Radionuclide Imaging; Randomized Controlled Trials as Topic; Sequestosome-1 Protein; Zoledronic Acid
PubMed: 31488492
DOI: 10.1136/bmjopen-2019-030689 -
Acta Reumatologica Portuguesa 2019Sarcomatous degeneration is one of the serious and rare complications of Paget's disease of bone. Osteosarcoma is the most common secondary tumour, while other variants...
Sarcomatous degeneration is one of the serious and rare complications of Paget's disease of bone. Osteosarcoma is the most common secondary tumour, while other variants such as chondrosarcoma are extremely uncommon. We describe a unique case of Paget's chondrosarcoma of the pelvis in an elderly female patient, with no previous established diagnosis of osteitis deformans. We emphasize clinical and radiologic aspects that should raise suspicion of malignant transformation, revealing good correlation with the final histopathological diagnosis.
Topics: Aged, 80 and over; Bone Neoplasms; Chondrosarcoma; Fatal Outcome; Female; Humans; Ilium; Osteitis Deformans
PubMed: 31455754
DOI: No ID Found -
PloS One 2019Bone remodeling is an essential physiological process in growth and healing. In modern systems deviations from normal bone physiology in the form of pathologies aid in...
Bone remodeling is an essential physiological process in growth and healing. In modern systems deviations from normal bone physiology in the form of pathologies aid in the understanding of normal bone metabolism. Here we use external morphology and X-ray microtomography to diagnose and describe a metabolic bone disease in an amniote from the early Permian. The specimen consists of two fused tail vertebrae of a small varanopid from early Permian (289 million years old) cave deposits near Richards Spur, Oklahoma, USA. Inspection of the outer morphology reveals that the fusion encompasses the vertebral centra, zygopophyses and haemal arches, with the fusion zones distinctly swollen on the left side of the specimen. With visualization of its internal structure by microCT, this specimen is diagnosed as a complex metabolic bone disease. The radiological imaging suggests a pathologically high bone turnover rate, as shown by abnormal bone formation in some areas and increased bone resorption in others. This supports that the varanopid suffered from a metabolic bone disease similar to Paget's disease of bone as seen in humans today, which is linked to both genetic and viral factors. This finding extends the occurrence of Paget-like disease to the early Permian, and-provided a viral component was present-would also be by far the oldest evidence of viral infection in the fossil record.
Topics: Animals; Fossils; Osteitis Deformans; Spine; X-Ray Microtomography
PubMed: 31390345
DOI: 10.1371/journal.pone.0219662 -
The American Journal of Case Reports May 2019BACKGROUND Paget disease is a primary bone disease with adjacent joint involvement that commonly presents with degenerative arthritis. Rheumatoid arthritis (RA) is...
BACKGROUND Paget disease is a primary bone disease with adjacent joint involvement that commonly presents with degenerative arthritis. Rheumatoid arthritis (RA) is mainly an articular disease with symmetric synovitis of the peripheral joints and usually does not involve the lumbar spine. The coexistence of Rheumatoid Arthritis and Paget disease of bone is infrequently reported in the literature. CASE REPORT A 74-year-old African-American man was referred for the investigation of symmetrical polyarthritis, left upper arm joint deformity, and low back pain. X-ray imaging of the hands demonstrated bilateral erosions and deformities of the carpal bones, and the left arm showed mixed lytic and sclerotic bone lesions. Laboratory tests showed high levels of rheumatoid factor and alkaline phosphatase. Analysis of the synovial fluid from the left knee was consistent with inflammatory joint disease. CONCLUSIONS The purpose of this article is to present the diagnostic challenges associated with the rare coexistence of Rheumatoid Arthritis and Paget disease of bone in the same patient. The correct diagnosis of both diseases has important consequences in preventing treatment delay.
Topics: Aged; Arthritis, Rheumatoid; Humans; Male; Osteitis Deformans
PubMed: 31142731
DOI: 10.12659/AJCR.914668 -
Endokrynologia Polska 2019Not required for Clinical Vignette.
Not required for Clinical Vignette.
Topics: Female; Headache; Humans; Leg; Middle Aged; Osteitis Deformans; Pain
PubMed: 31111460
DOI: 10.5603/EP.a2019.0019