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981.
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BACKGROUND: Congenital insensitivity to pain is a rare disorder that can lead to neuropathic arthropathy of any joint including the spine. Most of the case reports in the literature are in the pediatric population. PURPOSE: This case report emphasizes the importance of anterior and posterior fusion in patients with congenital insensitivity to pain. The patient was initially treated as if the deformity was postinfectious. STUDY DESIGN SETTING: The patient was treated in a university-based tertiary care center. METHODS: The patient underwent an anterior decompression and fusion with instrumentation that failed with ambulation. An anterior and posterior revision with instrumentation was then performed to stabilize the Charcot spine. RESULTS: The patient had an excellent final outcome. At 2 years postoperatively, he is solidly fused and back to his normal occupation. CONCLUSION: Anterior and posterior fusion is essential in neuropathic spinal arthropathy. Congenital insensitivity to pain can manifest problems into adulthood. 相似文献
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984.
Cassidy J Kivlin J Lindsley C Nocton J;Section on Rheumatology;Section on Ophthalmology 《Pediatrics》2006,117(5):1843-1845
Unlike the joints, ocular involvement with juvenile rheumatoid arthritis is most often asymptomatic; yet, the inflammation can cause serious morbidity with loss of vision. Scheduled slit-lamp examinations by an ophthalmologist at specific intervals can detect ocular disease early, and prompt treatment can prevent vision loss. 相似文献
985.
Yaadwinder Shergill Pierre Ct Heather Shearer Jessica J. Wong Maja Stupar Anthony Tibbles J. David Cassidy 《The Journal of the Canadian Chiropractic Association》2021,65(2):186
PurposeThe inter-rater reliability of the Quebec Task Force (QTF) classification system for Whiplash-Associated Disorders (WAD) remains unknown. Our objective was to determine the inter-rater reliability of the WAD classification between an experienced chiropractic clinician and two chiropractic residents.MethodsWe conducted an inter-rater reliability study using baseline clinical data from 80 participants assessed for inclusion in a randomized clinical trial of the conservative management of WAD grades I and II. We reported reliability using Cohen’s kappa (k) and 95% confidence intervals (CI).ResultsThe mean duration of WAD symptoms was 7.6 days (s.d.=5.2). In our study, the interrater reliability of the WAD grade classification varied from k=0.04 (95% CI -0.04 to 0.12) to k=0.80 (95% CI 0.67 to 0.94).ConclusionInter-rater reliability of the WAD classification varied greatly across raters and may be associated with the experience of the raters and with their understanding of the criteria. Our results suggest that clinicians may benefit from training to standardize how they classify WAD. Furthermore, our results need to be tested in a different sample of patients and with a range of clinicians from different clinical disciplines. 相似文献
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For the purpose of this study twenty cases, involving the deaths of Irish nationals while abroad, were examined. The aims of the report were 1) to observe whether autopsy guidelines are being implemented by countries throughout the world investigating the deaths of foreign citizens, particularly Irish nationals, 2) to compare/contrast the cause(s) of death established in Ireland and the countries where the deaths occurred and 3) where appropriate, suggest improvements to the current system. The results revealed that where a complete autopsy is not performed then the chance of forming a correct cause of death, or any cause of death, decreases from 100% to 0%. The standard of autopsies on foreign nationals varies from country to country and within countries. Currently there are many different autopsy procedure guidelines available. The time may have come to formulate one universal set of guidelines that are to be implemented worldwide. 相似文献
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990.
Comparison of perinatal factors in deletion versus uniparental disomy in Prader–Willi syndrome 下载免费PDF全文
June‐Anne Gold Ranim Mahmoud Suzanne B. Cassidy Virginia Kimonis 《American journal of medical genetics. Part A》2018,176(5):1161-1165
Prader–Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11‐q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood‐onset obesity, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems. We studied perinatal factors in a cohort of 64 people with PWS resulting from paternal deletion of 15q11‐q13 and maternal uniparental disomy (UPD) for chromosome 15. We recruited 34 individuals with deletion and 30 with UPD. We compared the frequency of multiple prenatal and neonatal factors with the general population as well as between the two genetic subtypes. Of the 64 individuals with PWS, fetal movements were decreased in 82.8%, 31.7% were born prematurely, 42.1% by Cesarean section, and 35.9% required oxytocin induction. Apgar scores were low in 34.6%, 96.8% had feeding difficulty, 50% needed tube feeding, and 6.2% subsequently had gastrostomy tube placement. On comparing findings in the deletion versus the UPD groups, we did not find many significant differences. We, however, found a higher maternal age, and also later age at diagnosis in the UPD versus the deletion group. PWS subjects have higher rates of perinatal complications, especially Cesarean section rate, hypotonia, and low Apgar scores compared to the general population. We did not find many differences between the genetic subtypes, except for later age of diagnosis of the UPD 15 group suggesting a milder phenotype. We also found that the mothers in the UPD were older, supporting the hypothesis that UPD results from nondisjunction associated trisomy rescue. 相似文献