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Indian Journal of Pediatrics - Acute rheumatic fever (ARF) and its sequelae, Rheumatic heart disease (RHD), contribute significantly to the cardiovascular morbidity and mortality in developing... 相似文献
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Gopisankar Balaji Anand Kumar Jagdish Menon 《Journal of Clinical Orthopaedics and Trauma》2015,6(3):195-198
Non-traumatic open dislocation of the first metacarpophalangeal joint is a rare phenomenon. We present a rare such occurrence secondary to snake bite induced cellulitis. A 22-year-old girl presented with pain and instability of her right thumb two months. She had snake bite two months back following which she developed cellulitis which gradually became infected. She presented with raw area over her dorsal aspect of the thumb with active infection. Radiographs revealed metacarpophalangeal joint dislocation. She underwent debridement, stabilisation and soft tissue coverage. At final follow up, she was pain free and the wound healed completely. 相似文献
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Robert J. H. Miller Jacek Kwiecinski Kevin S. Shah Evann Eisenberg Jignesh Patel Jon A. Kobashigawa Babak Azarbal Balaji Tamarappoo Daniel S. Berman Piotr J. Slomka Evan Kransdorf Damini Dey 《American journal of transplantation》2020,20(5):1375-1383
Cardiac allograft vasculopathy (CAV) is an increasingly important complication after cardiac transplant. We assessed the additive diagnostic benefit of quantitative plaque analysis in patients undergoing coronary computed tomography–angiography (CCTA). Consecutive patients undergoing CCTA for CAV surveillance were identified. Scans were visually interpreted for coronary stenosis. Semiautomated software was used to quantify noncalcified plaque (NCP), as well as its components. Optimal diagnostic cut‐offs for CAV, with coronary angiography as gold standard, were defined using receiver operating characteristic curves. In total, 36 scans were identified in 17 patients. CAV was present in 17 (46.0%) reference coronary angiograms, at a median of 1.9 years before CCTA. Median NCP (147 vs 58, P < .001), low‐density NCP (median 4.5 vs 0.9, P = .003), fibrous plaque (median 76.1 vs 31.1, P = .003), and fibrofatty plaque (median 63.6 vs 27.6, P < .001) volumes were higher in patients with CAV, whereas calcified plaque was not (median 0.0 vs 0.0, P = .510). Visual assessment of CCTA alone was 70.6% sensitive and 100% specific for CAV. The addition of total NCP volume increased sensitivity to 82.4% while maintaining 100% specificity. NCP volume is significantly higher in patients with CAV. The addition of quantitative analysis to visual interpretation improves the sensitivity for detecting CAV without reducing specificity. 相似文献
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Irene J. Chang MD Margaret P. Adam MD Suman Jayadev MD Thomas D. Bird MD Niranjana Natarajan MD Ian A. Glass MD MB ChB 《American journal of medical genetics. Part A》2018,176(1):235-240
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever‐induced ataxic encephalopathy in childhood with residual symptoms. All identified patients have the same heterozygous missense variant c.2452G>A (p.Glu818Lys) in the ATP1A3 gene, encoding Na+/K+ ATPase α3. We describe a large CAPOS pedigree with three generations of affected members, the first ascertained in the United States. Deafness, optic atrophy, and pes cavus were present in all three members of the family evaluated. In addition, one of the affected individuals experienced markedly worsening features during her three pregnancies and in the immediate postpartum period, a potential element of the natural history of CAPOS previously unreported. We conclude that the triggering factors and clinical spectrum of pathogenic ATP1A3 variants may be broader than previously described. Targeted sequencing of ATP1A3 should be considered in any patient presenting with cerebellar ataxia triggered by febrile illness, or pregnancy and delivery, especially in the presence of sensorineural hearing loss, optic atrophy, pes cavus, or early childhood history of acute encephalopathic ataxia. Prophylactic administration of acetazolamide or flunarizine may prevent acute episodes of ataxia or mitigate neurologic symptoms, although their efficacies have not been well studied. 相似文献