Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome

Segmental progeroid syndromes are commonly represented by genetic conditions which recapitulate aspects of physiological aging by similar, disparate, or unknown mechanisms. Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease caused by mutations in the gene for ACVR1/ALK2 encoding Activin A receptor type I/Activin-like kinase 2, a bone morphogenetic protein (BMP) type I receptor, and results in the formation of extra-skeletal ossification and a constellation of others features, many of which resemble accelerated aging. The median estimated lifespan of individuals with FOP is approximately 56 years of age. Characteristics of precocious aging in FOP include both those that are related to dysregulated BMP signaling as well as those secondary to early immobilization. Progeroid features that may primarily be associated with mutations in ACVR1 include osteoarthritis, hearing loss, alopecia, subcutaneous lipodystrophy, myelination defects, heightened inflammation, menstrual abnormalities, and perhaps nephrolithiasis. Progeroid features that may secondarily be related to immobilization from progressive heterotopic ossification include decreased vital capacity, osteoporosis, fractures, sarcopenia, and predisposition to respiratory infections. Some manifestations of precocious aging may be attributed to both primary and secondary effects of FOP. At the level of lesion formation in FOP, soft tissue injury resulting in hypoxia, cell damage, and inflammation may lead to t...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research

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CONCLUSION: This study found that childhood cancer survivors in New Zealand had a high prevalence of developmental dental abnormalities and it identified potential risk factors related to their cancer treatment. Inequitable access to oral rehabilitation for this patient group argues for a mechanism for consistent improved access to publicly funded dental care across district health boards in New Zealand. PMID: 33032302 [PubMed - in process]
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
CONCLUSION: When gastroenterologists encounter NAFLD/NASH patients, serum CK should be verified. If hyperCKemia, frontal baldness, a hatched face, history of cataract surgery, and grip myotonia are noted, the possibility of MD may be considered. PMID: 33033573 [PubMed]
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Publication date: Available online 10 October 2020Source: Hematology/Oncology and Stem Cell TherapyAuthor(s): Thejus T. Jayakrishnan, Veli Bakalov, Zena Chahine, John Lister, Rodney E. Wegner, Santhosh Sadashiv
Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research
CONCLUSIONS: As the present study was the first investigation on the coagulation status in patients with AA, elevated D-dimer levels in alopecia areata may suggest a deficient coagulation in these patients that may contribute to an increase in the risk of thrombosis. Further studies are needed to evaluate this hypothesis using a larger sample size. PMID: 33034439 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
In this study, in vitro antiosteoporosis activity and hepatotoxicity of P. jamasakura bark extracts were evaluated. Methods. Mouse bone marrow macrophage (BMM) cells were incubated with tartrate-resistant acid phosphate (TRAP) buffers and p-nitrophenyl phosphate and cultured with different P. jamasakura bark extracts at concentrations of 0, 6.25, 12.5, 25, and 50 μg/ml in the presence of the receptor activator of nuclear factor kappa-Β ligand (RANKL) for 6 days. The osteoclast TRAP activity and cell viability were measured. Nitric oxide (NO) assay was conducted using murine macrophage-like RAW 264.7 cells tr...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Conclusion: It appears that the knee OA pain and disability can be decreased after a dual-frequency LLLT applied to acupoints (SP9, SP10, and EX-LE2). The clinical efficacy of LLLT is highly related to the therapeutic settings of the laser apparatus; hence, more clinical trials with diffident parameter settings are needed to be further clarified. PMID: 33029170 [PubMed]
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Authors: Liu X, Zheng J, Li F, Yi R, Mu J, Tan F, Zhao X Abstract A rat model of secondary osteoporosis was constructed using retinoic acid as an inducer, and the genes, proteins, and bone mass of the rats were analyzed. qPCR detection of the Wnt/β-catenin and OPG/RANK/RANKL signaling pathway-related gene expression levels showed that Lactobacillus plantarum HFY15 played a positive role in regulating both pathways. HFY15 significantly increased β-catenin, Lrp5, Lrp6, Wnt10b, OPG, RANKL, and Runx2 expression and downregulated DKK1, RANK, CTSK, TRACP, and ALP expression. Enzyme-linked immunosorbent assays f...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Publication date: 15 February 2021Source: Chemical Engineering Journal, Volume 406Author(s): Do Kyung Kim, Sanghyuk Lee, Minjeong Kim, Yunhui Jeong, Soonchul Lee
Source: Chemical Engineering Journal - Category: Chemistry Source Type: research
SUPPLEMENTS could be used to lower your risk of hair loss; a condition that affects many people in the UK. You could treat alopecia, or lower your chances of losing your hair, by adding this "key" mineral to your daily diet. Should you consider adding a hair loss treatment to your shower routine?
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
CONCLUSION: According to our subclinical electrophysiological findings, surgeons that use the posterolateral approach in THA procedures must be conscious of the sciatic nerve's vulnerability to reduce possible clinical complications. PMID: 33031693 [PubMed - as supplied by publisher]
Source: Puerto Rico Health Sciences Journal - Category: International Medicine & Public Health Tags: P R Health Sci J Source Type: research
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