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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.
Global molecular epidemiology of the O15:K52:H1 extraintestinal pathogenic Escherichia coli clonal group: evidence of distribution beyond Europe
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Johnson JR Stell AL O'Bryan TT Kuskowski M Nowicki B Johnson C Maslow JN Kaul A Kavle J Prats G 《Journal of clinical microbiology》2002,40(6):1913-1923
Escherichia coli O15:K52:H1 is a significant extraintestinal pathogen in Europe (G. Prats et al., J. Clin. Microbiol. 38:201-209, 2000). To search for evidence of this clonal group outside of Europe, 75 non-European E. coli isolates of serogroup O15 were compared with five members of the O15:K52:H1 clonal group from Barcelona, Spain, according to genomic background, virulence genotypes, and antimicrobial resistance profiles. Amplification phylotyping showed that 16 (21%) of the 75 non-European O15 isolates corresponded with the O15:K52:H1 clonal group. The 16 non-European O15:K52:H1 clonal group members represented diverse geographic locales. They were isolated almost exclusively from humans with extraintestinal infections and accounted for 50% of all O15 isolates from five human clinical collections studied. Most non-European clonal group members exhibited a consensus virulence factor profile that included the F16 or F7-2 papA alleles (P fimbrial structural subunit), papG allele II (P fimbrial adhesin), iha (putative adhesin siderophore), and iutA (aerobactin receptor). This resembles the virulence profiles of (i) European representatives of the O15:K52:H1 clonal group and (ii) phylogenetically related "clonal group A," a recently recognized significant contributor to trimethoprim-sulfamethoxazole resistance in the United States (A. R. Manges et al., N. Engl. J. Med. 345:1007-1013, 2001). Antimicrobial resistance profiles were variable, and resistance was inconsistently transferred by conjugation. These findings indicate that the O15:K52:H1 clonal group is broadly distributed beyond Europe, exhibits previously unrecognized phenotypic and genotypic diversity, and contributes significantly to extraintestinal infections in humans. 相似文献
10.
Cohen JH Faughnan ME Letarte M Vandezande K Kennedy SJ Krahn MD 《American journal of medical genetics. Part A》2005,137(2):153-160
Endoglin (ENG) and ALK-1 mutations cause hereditary hemorrhagic telangiecstasia (HHT), an autosomal dominant disorder leading to vascular dysplasia in the form of mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs). We proposed to compare two alternative strategies for management of HHT: screening HHT families with molecular diagnostic tests followed by targeted clinical screening versus conventional clinical screening. A decision analytic model was constructed to compare screening strategies for a hypothetical HHT family. The family consists of 1 index case and 13 relatives. The clinical screening protocol in use at the Canadian HHT Center in Toronto was assumed to be the standard of care. Unit costs for clinical screening (in Canadian dollars) were obtained from the 2003 Ontario Health Insurance Schedule of Benefits. Genetic screening costs were estimated for quantitative multiplex PCR and sequencing of Endoglin (ENG) and ALK-1 genes, as performed at HHT Solutions, Toronto. The genetic screening strategy resulted in a net cost of $4,060 per individual versus $5,975 for the clinical screening strategy. The genetic screening strategy would save $1,915 per family member or $26,810 saved per family. Sensitivity analyses revealed that the genetic screening strategy was cost saving over all plausible ranges of input variables for all hypothetical families tested. We concluded that a genetic screening strategy with targeted clinical screening is more economically attractive than conventional clinical screening and results in a reduction in the number of clinical tests for family members who do not have HHT. 相似文献