Fibrodysplasia ossificans progressiva—a rare disease with distinctive features yet still a diagnostic challenge: A case report
Rationale: Fibrodysplasia ossificans progressiva (FOP) is rare genetic disease featuring progressive heterotopic ossification of soft tissues of the musculoskeletal system which leads to severe disability and premature death. Recognition of this disease is important since invasive diagnostic procedures can promote disease progression. However, despite its distinctive clinical manifestations, diagnosis can be difficult because of its rarity Patient concerns: A 20-year-old woman was referred to rheumatology clinic for management of “ankylosing spondylitis”. The patent had begun to have hard subcutaneous nodules when she was 1 year old, and subsequently developed hip joint pain and flexion contractures of knees and hips leading to disability. Diagnoses: Based on characteristic bilateral great toe deformities and radiographic images of ossification of soft tissues, a clinical diagnosis of FOP was made. This was confirmed by genetic test showing a heterozygous mutation (c.G617A) of the activin receptor 1A gene (ACVR1). Interventions: The patient was treated symptomatically and with supportive measures, and her condition remained stable. Lessons: Diagnosis of FOP can be difficult, despite its distinctive clinical manifestations, because of its rarity. Recognition of this disease is important to avoid invasive diagnostic procedures which can promote progression.
Publication date: Available online 28 September 2020Source: The Arts in PsychotherapyAuthor(s): Angelle Cook
Publication date: November–December 2020Source: Journal of Orthopaedics, Volume 22Author(s): Gopalakrishnan Janani, Perumal Suresh, Ayyadurai Prakash, Jeganathan Parthiban, Karthik Anand, Sivaraman Arumugam
Publication date: Available online 28 September 2020Source: Case Reports in Women's HealthAuthor(s): Zainab Al Fatly, Famke L.M. Beckers, Krischan D. Sjauw, Jeanine E. Roeters van Lennep, M.M. Schreuder
ConclusionsComplete miscarriage after expectant management is significantly more likely in embryonic miscarriage than in anembryonic miscarriage. Gestational age, crown-rump-length, and gestational sac diameter are independent predictors of success of expectant management. Predictors of treatment success may help counselling women with early miscarriage.
CONCLUSIONS: 1. Our follow-up data from a mean of 11 years show that the use of the anatomical AURA II stem results in a considerable reduction in hip pain and produces good and lasting clinical outcomes. 2. With good surgical technique and in the absence of complications, the risk of aseptic loosening is minimal. PMID: 32986003 [PubMed - as supplied by publisher]
CONCLUSION: The compliance was relatively low due to several challenges, which could serve as a tobacco control policy lesson in a lower-middle-income country. PMID: 32986364 [PubMed - as supplied by publisher]
Conclusions: Adenomatous polyps are very important in childhood because of rarity. In particular, the presence of cafe au lait spots and a history of malignancy detected in relatives at an early age must be considered for CMMRD.
Authors: Gupta R, Panwar RB, Sharma A, Panwar SR, Rao RS, Gupta BK Abstract Rheumatic heart disease (RHD) disables millions in Asia and Africa. Epidemiological data and clinical studies in India have reported a significant decline in its prevalence in last century. Global Burden of Disease (GBD) study estimated that RHD in India led to 395/100000 disability adjusted life years (DALYs) and 9.2/100000 deaths in 1990. This declined to 270/100000 and 7.9/100000, respectively, in 2017. School-based epidemiological studies in India have reported decline in clinically diagnosed RHD. On the other hand, GBD study has report...
Publication date: Available online 28 September 2020Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral RadiologyAuthor(s): Chen Nadler, Susanne E. Perschbacher, Daniel Septon, Ragda Abdalla-Aslan, Michael Pharoah, Linda Lee
Publication date: Available online 28 September 2020Source: Journal of Oral and Maxillofacial Surgery, Medicine, and PathologyAuthor(s): Joul Kassis