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Sissa Brito dos Santos Aurélia Bertholet-Thomas Marine Butin Laurence Dubourg Alain Fouilhoux Justine Bacchetta 《Archives de pédiatrie》2021,28(4):338-341
The main clinical features of tyrosinemia type 1 usually appear in the first months of life, including fever, diarrhea, vomiting, liver involvement, growth failure, and renal proximal tubulopathy with subsequent hypophosphatemic rickets. An early diagnosis is crucial in order to provide specific management and to prevent complications. Here, we report on two cases referred primarily to pediatric nephrologists for the diagnosis of “neonatal tubulopathy” and management of “X-linked hypophosphatemia (XLH),” respectively. Our aim is to emphasize that (1) even a mixed tubulopathy can reveal tyrosinemia, and (2) tyrosinemia is a classic differential diagnosis of XLH that should not be forgotten, especially in the era of the anti-FGF23 burosumab. 相似文献
3.
Adrian Lim Justine Le Clerc 《Australian endodontic journal : the journal of the Australian Society of Endodontology Inc》2019,45(3):414-419
Taurodontism is a rare embryologic anomaly of teeth, defined by an apical displacement of the furcation of roots and enlarged pulp chambers. Taurodontism has been classified as hypo‐, meso‐ or hypertaurodontism according to the severity of the anomaly. The aim of this case report was to illustrate a clinical case with multiple bilateral taurodonts and to describe the endodontic management of the hypertaurodontic mandibular left second molar with a C‐shaped canal and extensive dental pulp calcifications. A healthy 20‐year‐old male patient was referred for the endodontic treatment of his lower left second molar. Cone beam computed tomography revealed a C‐shaped root canal configuration and several dental pulp calcifications in this tooth. The endodontic treatment was performed in two appointments under an operating dental microscope. A panoramic radiograph, made during the 18 months follow‐up appointment, revealed nine other taurodontic molars, most of them associated with dental pulp calcifications. 相似文献
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OBJECTIVE: To assess the frequency of risk factors for rhabdomyolysis with simvastatin and atorvastatin in cases reported to the Australian Adverse Drug Reactions Advisory Committee (ADRAC). DESIGN: Reports meeting the definition of rhabdomyolysis were reviewed for risk factors including age > or = 70 years, dose > or = 40 mg, hepatic dysfunction, diabetes mellitus, hyperkalaemia, hypothyroidism and the use of concomitant interacting medications. RESULTS: Only one report associated with simvastatin and five reports associated with atorvastatin did not list any risk factors for rhabdomyolysis. Interacting medicines featured in 77% of reports of rhabdomyolysis associated with simvastatin and 44% of reports associated with atorvastatin. A comparison of the age profile for reports of atorvastatin- and simvastatin-associated rhabdomyolysis with that for all adverse drug reaction reports received, and for all reports of muscle disorders, suggested a trend towards an increasing risk of rhabdomyolysis with increasing age with simvastatin but not with atorvastatin. Similarly, comparing prescribed tablet strengths from Pharmaceutical Benefits Scheme data with the HMG-CoA reductase inhibitor ('statin') doses in reports of rhabdomyolysis suggested a dose-related risk with simvastatin, but a less increased risk with high-dose atorvastatin. CONCLUSION: Risk factors for rhabdomyolysis featured in nearly all of the reports of statin-associated rhabdomyolysis and the majority of reports listed multiple risk factors, although dependence on risk factors appeared to be stronger with simvastatin than atorvastatin. The multiplication of risk factors in patients taking simvastatin and atorvastatin should be minimised. 相似文献
6.
While much time has been spent deliberating about the definition of play, little emphasis has been placed on what children themselves perceive as play. The aim of the present study was to examine social context as a cue for children's perceptions of play and learning. Ninety-two children aged between four and six years (mean four years nine months) participated in the study and completed the Activity Apperception Story Procedure. Children were asked to sort photographic stimuli into those they believed depicted play/not play and learning/not learning. Each of the stimuli were identified by independent raters as containing one of the following social cues; teacher absence (solitary activity, parallel activity or cooperative activity) or teacher presence (teacher involved activity or teacher directed activity). Findings revealed that children associated teacher absence with play. More specifically, children made links between play and the presence of peers (parallel and cooperative activity). Findings are discussed in relation to play in the early years curriculum, differences in children's early educational experiences and the importance of understanding children's perceptions of play. 相似文献
7.
Justine Royle Rachel Williamson Mark Strachan Marie O’Donnell Simon Jackson Thanos Argryopoulos Alan McNeill 《British journal of medical & surgical urology》2009,2(5):204-207
Emphysematous pyelonephritis is a severe life-threatening infection which continues to carry significant morbidity and mortality. We present a case recently managed at our institution by laparoscopic nephrectomy. The patient survived, and in comparison to some of the more conventionally managed patients in the literature, made an extremely speedy recovery. We would advocate this option to be seriously considered when patients are suitable and appropriately trained surgeons are available. 相似文献
8.
Barbara Resnick Denise Orwig Janet Yu-Yahiro William Hawkes Michelle Shardell J. Richard Hebel Sheryl Zimmerman Justine Golden Michele Werner Jay Magaziner 《Annals of behavioral medicine》2007,34(1):67-76
Background: Exercise is an important strategy with potential to improve recovery in older adults following a hip fracture.Purpose: The purpose of this study was to test the impact of a self-efficacy based intervention, the Exercise Plus Program, and the
different components of the intervention, on self-efficacy, outcome expectations, and exercise behavior among older women
post-hip fracture.Methods: Participants were randomized to one of four groups: exercise plus, exercise only, plus only (i.e., motivation), or routine
care. Data collection was done at baseline (within 22 days of fracture), 2, 6, and 12 months post-hip fracture.Results: A total of 209 women were recruited with an average age of 81.0 years (SD=6.9). The majority was White (97.1%), was widowed
(57.2%), and had a high school education (66.7%). Generalized Estimating Equations were used to perform repeated measures
analyses. No differences in trajectories of recovery were observed for self-efficacy or outcome expectations. A statistically
significant difference in the overall trajectory of time in exercise was seen (p<.001), with more time spent exercising in
all three treatment groups.Conclusions: The study demonstrated that it was possible to engage these women in a home-based exercise program and that the plus only,
exercise only, and the exercise plus groups all increased exercise.
Support for this project was provided by National Institute on Aging grants R37 AG09901, R01-AG18668, R01 AG17082, and the
Claude D. Pepper Older Americans Independence Center P60-AG12583. 相似文献
9.
Treatment of renal artery stenosis after renal transplantation 总被引:5,自引:1,他引:4
G Benoit C Hiesse P Icard H Bensadoun J Bellamy B Charpentier A Jardin D Fries 《Transplantation proceedings》1987,19(5):3600-3601
10.
Charlotte Charpentier Didier Laureillard Mustapha Sodqi Ali Si-Mohamed Marina Karmochkine Laurent Bélec Laurence Weiss Christophe Piketty 《Journal of clinical virology》2008,43(2):212-215
BACKGROUND: Salvage therapy based on foscarnet plus a thymidine analog is effective in patients with advanced-stage HIV disease and viruses harbouring multiple drug-resistance mutations. OBJECTIVE: To identify viral genetic determinants associated with the virological efficacy of foscarnet salvage therapy. STUDY DESIGN: Thirteen patients received foscarnet at a fixed dose of 80mg/kg twice daily for 14 days, in combination with zidovudine or stavudine. RESULTS: The baseline median HIV viral load and CD4 cell count were 5.10log(10)copies/ml and 23cells/mm(3), respectively. Following foscarnet therapy, viral load fell by a median of 1.84log(10)copies/ml (range: -0.29 to -2.82), and by at least 1log(10)copies/ml in 11 patients, all of whom harboured viruses with at least three thymidine-associated mutations (TAMs). The two patients with smaller declines in viral load (<0.50log(10)copies/ml) harboured viruses with only one or zero TAMs. CONCLUSIONS: These findings corroborate, in vivo, the impact of TAMs on HIV susceptibility to foscarnet. The virological response to foscarnet salvage therapy in multiclass-experienced patients may thus differ according to the number of TAMs. 相似文献