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...
Publication date: March 2020Source: The Lancet Haematology, Volume 7, Issue 3Author(s): Kirsten M Williams, Jennifer Holter Chakrabarty
HAIR loss isn't usually indicative of a serious health condition but it can have a profound impact on your psychological wellbeing so finding ways to address it often becomes a top priority. If you are looking for a natural solution, emerging evidence has suggested taking one particular vitamin may help to stimulate hair growth.
Publication date: Available online 26 February 2020Source: Current Therapeutic ResearchAuthor(s): Patrice Vincent, Thibaut Lucas de Couville, Thierry Thomas
Publication date: Available online 26 February 2020Source: PhytomedicineAuthor(s): Aeyung Kim, Seo-Young Lee, Chang-Seob Seo, Sun-Ku Chung
ConclusionsThe association of rs4867568 and rs143383 with KOA was successfully replicated in the Chinese Han population. Moreover, rs4867568 was found significantly associated with the severity of KOA. More studies are warranted to explore the functional role of rs4867568 in the development of KOA.Key Points• A novel variant near Lsp1p3 is associated with knee osteoarthritis.• Baseline characteristics of the subjects.• Comparison of the genotype and allele frequency of the Lsp1p3, GDF5, and FTO.• Association of the Lsp1p3, GDF5, and FTO with KOA severity.
Publication date: Available online 25 February 2020Source: European Journal of Integrative MedicineAuthor(s): Mitra Abbasifard, Rahele Zareshahi
Publication date: 25 February 2020Source: Cell Reports, Volume 30, Issue 8Author(s): Yuelin Zhang, Zhao Zhang, Peikai Chen, Chui Yan Ma, Cheng Li, Tiffany Y.K. Au, Vivian Tam, Yan Peng, Ron Wu, Kenneth Man Chee Cheung, Pak C. Sham, Hung-fat Tse, Danny Chan, Victor Y. Leung, Kathryn S.E. Cheah, Qizhou Lian
Mucormycosis in large cohort of pediatric and adult patients after hematopoietic stem cell transplantation&chemotherapyConference abstracts
Authors: Manavi KR, Alston-Mills BP, Thompson MP Abstract Tobacco usage kills more than 8 million people a year. Approximately 7 million of those deaths are the result of direct tobacco use, while approximately 1.2 million are the result of non-smokers being exposed to second-hand smoke. About 200 million of the world's one billion smokers are women and usage among women is increasing in some countries. Nicotine from smoking tobacco, specifically its metabolite cotinine, has negative effects on human health causing lung cancer, COPD and non-respiratory problems. Over a billion people worldwide are Vitamin D defici...
Conditions: Kidney Stone; Nephrolithiasis Interventions: Procedure: Ureteroscopy; Procedure: Percutaneous Nephrolithotomy; Procedure: Shock Wave Lithotripsy Sponsors: Children's Hospital of Philadelphia; Patient-Centered Outcomes Research Institute Not yet recruiting