The woman who is slowly 'turning to STONE': Condition causes muscle to gradually change into bone 

Carli Henrotay, of Saint Louis, Missouri, has the genetic condition fibrodysplasia ossificans progressiva. With a life expectancy of 40, it gets progressively worse with age and has no cure.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Conditions:   Fibrodyplasia Ossificans Progressiva (FOP);   Heterotopic Ossification (HO) Intervention:   Drug: garetosmab Sponsor:   Regeneron Pharmaceuticals Not yet recruiting
Source: - Category: Research Source Type: clinical trials
This article has an associated First Person interview with the first author of the paper.
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Developmental Disorders, Zebrafish as a Disease Model RESEARCH ARTICLE Source Type: research
ABSTRACT Heterotopic ossification (HO) is a disorder characterised by the formation of ectopic bone in soft tissue. Acquired HO typically occurs in response to trauma and is relatively common, yet its aetiology remains poorly understood. Genetic forms, by contrast, are very rare, but provide insights into the mechanisms of HO pathobiology. Fibrodysplasia ossificans progressiva (FOP) is the most debilitating form of HO. All patients reported to date carry heterozygous gain-of-function mutations in the gene encoding activin A receptor type I (ACVR1). These mutations cause dysregulated bone morphogenetic protein (BMP) signall...
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Rare diseases CLINICAL PUZZLE Source Type: research
Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic disorder characterized by altered skeletal development and extraskeletal ossification. All cases of FOP are caused by activating mutations in the type I BMP/TGF β cell surface receptor ACVR1, which over-activates signaling through phospho-Smad1/5 (pSmad1/5). To investigate the mechanism by which FOP-ACVR1 enhances pSmad1/5 activation, we used zebrafish embryonic dorsoventral (DV) patterning as an assay for BMP signaling. We determined that the FOP mutants ACVR1-R206H and -G328R do not require their ligand binding domain to over-activate BMP signaling ...
Source: eLife - Category: Biomedical Science Tags: Developmental Biology Source Type: research
We report a patient with FOP suffering from life-threatening antibiotic resistant bacterial infected ulcers of the right lower leg and foot. The anesthetic, surgical and postoperative challenges and considerations are discussed. In addition, the literature on limb surgeries of FOP patients is systemically reviewed. The 44 year-old female patient was scheduled for a through-knee amputation. Airway and pulmonary evaluation elicited severe abnormalities, rendering standard general anesthesia a rather complication-prone approach in this patient. Thus, regional anesthesia, supplemented with intravenous analgosedation and N2O-in...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Fibrodysplasia ossificans progressiva is a rare debilitating, connective tissue disease characterized by progressive extraosseous ossification with abnormal great toes. Clinical (hallux valgus), radiological, and classical bone scan findings help to reach diagnosis and prevent patient from unnecessary surgical interventions for fibrodysplasia ossificans progressiva lesions and radiotherapy cycles. Here we present a case where a child presented with multiple swellings over the body and hallux valgus, and further bone scan findings helped to reach the diagnosis. The progressive nature of disease is difficult to halt, but ear...
Source: Clinical Nuclear Medicine - Category: Nuclear Medicine Tags: Interesting Images Source Type: research
Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heter...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Publication date: Available online 16 July 2020Source: International Journal of Surgery Case ReportsAuthor(s): Nobuyuki Okamoto, Tatsuya Tazaki, Ryuta Shintakuya, Toshinori Hirano, Masaru Sasaki, Shinya Takahashi, Astushi Nakamitsu
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
In this study we investigated the effect of Activin-A on osteoclast differentiation of CD14+ monocytes from FOP patients and healthy controls. The lymphocytic and monocytic cell populations were determined by FACS analysis. Expression of the mutated R206H receptor was assessed and confirmed by allele specific PCR. The effect of Activin-A on osteoclastogenesis was assessed by counting the number and size of multinucleated cells. Osteoclast activity was determined by culturing the cells on Osteo Assay plates. The influence of Activin-A on expression of various osteoclast related genes was studied with QPCR. Blood from FOP pa...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Discussion: 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 ...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
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