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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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The study of the cognitive abilities of hearing-impaired children is important for both practical (e.g. to determine appropriate teaching strategies) and theoretical reasons (e.g. to examine the role of language in thought processes). The aim of this paper is to examine the cognitive function of hearing-impaired children from a review of the literature. If most studies show that deaf children are similar to normal children in virtually all aspects of cognitive function, many studies also emphasize pronounced differences in their academic achievement. Besides the degree of hearing loss and the age at onset of deafness, environmental factors (such as parental support and educational methods) seem to play an important role in the cognitive development and academic success of these children. This underlines the importance of the measures adopted for the deaf children as they may have a positive or negative impact on their development. 相似文献
6.
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
7.
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
8.
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
9.
A murine monoclonal antibody, BC12, was obtained after immunization against suprabasal human keratinocytes. In the epidermis of normal human skin, the antigen recognized by BC12 (BC12 antigen) is located at the apex of keratinocytes in the upper stratum spinosum and stratum granulosum but is absent in other layers. The BC12 antigen is also present in hair follicles. Immunoblotting performed on keratinocyte subpopulations confirmed the presence of the BC12 antigen in differentiated keratinocytes only. Two-dimensional immunoblotting showed that the BC12 antigen corresponds to a set of polypeptides with an apparent molecular weight of approximately 33kD. In keratinocyte cultures, the antigen is present only in stratified areas. The distribution of the BC12 antigen, as studied by indirect immunofluorescence and immunoelectron microscopy, and its presence in certain subcellular fractions of epidermal cells suggest that it is a component of membrane coating granules (MCGs) or that it is associated with these structures. Strikingly, in psoriasis, eczema and many other diseases, the BC12 antibody does not label the epidermis, but vessels in dermal papillae. The BC12 antibody may thus be a useful tool in the study of keratinocyte differentiation and MCG physiology, and, also, in pathology. 相似文献
10.
T Darras L Lenaerts J Jaucot J M Bailly J M Collette 《Journal belge de radiologie》1992,75(2):111-114
Usually, cystic mediastinal masses are considered as benign. However, the size of the cyst is of importance, chiefly in a closed space such as the superior mediastinum. Rarely a dramatic symptomatology may develop though this was the case in the two patients we describe, who were admitted in the department. In the first case (a parathyroid cyst), the symptoms were due to a thrombosis of the left innominate vein, and in the second case (a thyroid cyst), the severity was dominated by a dramatic compression of the trachea and the vessels. The contribution of computed tomography is nowadays undisputed. It enables the diagnosis of the cystic nature before surgery. The diagnosis can easily be confirmed by percutaneous drainage. 相似文献