ArticleCureus2023
The Role of Genetic Analysis in Demystifying the Diagnosis in a Middle-Aged Male Presenting With Proximal Muscle Weakness and Sclerotic-Lytic Skeletal Lesions.
Article in Cureus, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.Calcified tissue international · 2025Review
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paget's disease of bone (PDB) usually presents with bone pain and deformities. Herein, we describe a case of PDB who presented with gradually progressive quadriparesis. A man in his forties presented with gradually progressive proximal muscle weakness involving all four limbs. The patient had an elevated serum alkaline phosphatase level and osteosclerosis at various skeletal sites in a radiological skeletal survey. 18F-fluorodeoxyglucose (FDG) PET-CT showed FDG-avid sclerotic-lytic lesions at multiple skeletal sites. Histopathology evaluation of bone and muscle biopsy specimens revealed PDB and inclusion body myopathy (IBM) with neurogenic atrophy, respectively. A diagnosis of IBM associated with PDB without frontotemporal dementia (IBMPFD) was suspected and confirmed by exome sequencing, which revealed a heterozygous mutation in the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.