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2.
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.
Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults. 总被引:1,自引:0,他引:1
4.
The incidence of eye infections in a community is generally accepted as an indicator of the adequacy of water supply for their needs. However, discrepancies in the published results from various studies seem to challenge this view. We have reanalysed the published data on trachoma in relation to the most relevant indicators of water accessibility, using prevalence ratios as the single parameter for risk assessment. A definite trend emerges from this review: the incidence of infectious conjunctivitis is not sensitive to differences in water accessibility; on the other hand, a reduction in the risk of trachoma is consistently associated with better access to water. This conclusion may support the efforts of WHO and other multilateral and bilateral agencies to sustain the commitment towards the water supply sector beyond the International Drinking Water Supply and Sanitation Decade. 相似文献
5.
Steve Majerus Anne-Lise Leclercq Aurélie Grossmann Monique Touzin Martine Poncelet 《Cortex; a journal devoted to the study of the nervous system and behavior》2009,45(6):708-720
This study re-explored the nature of verbal short-term memory (STM) deficits in children with specific language impairment (SLI), by distinguishing item and serial order STM processes. Recent studies have shown serial order STM capacity to be a critical determinant of language development, relative to item STM. In Experiment 1, 12 children with SLI, 12 age-matched children and 12 language-matched children were administered serial order recognition and reconstruction tasks. Experiment 2 assessed implicit serial learning abilities via a Hebb learning task. The SLI group showed impaired performance for the serial order reconstruction and recognition tasks, relative to language-matched and/or age-matched control groups. However, normal serial position effects were observed in all SLI children in the serial order reconstruction task, suggesting normal coding of serial position information. Similarly, performance on the Hebb serial learning task was at chronological age appropriate levels. Experiment 3 showed that the group differences observed for the serial order STM tasks in Experiment 1 disappeared when the SLI group was compared to a mental age-matched control group. Experiment 4 showed similar performance levels in the SLI group and the mental age-matched control group for a nonword recognition task assessing item STM capacities. This study shows that children with SLI have no specific impairments for serial order and item STM components but that poorer general cognitive efficiency is related to functional limitations in verbal STM tasks. The data are in line with limited information processing accounts of SLI. 相似文献
6.
Rafael Cincu Juan F Martin L��zaro Jos�� Luis Capablo Liesa Jos�� Ram��n Ara Callizo 《Indian Journal of Orthopaedics》2007,41(4):395-397
Intramedullary epidermoid cysts of the spinal cord are rare tumors, especially those not associated with spinal dysraphism. About 50 cases have been reported in the literature. Of these, only seven cases have had magnetic resonance imaging (MRI) studies. We report two cases of spinal intramedullary epidermoid cysts with MR imaging. Both were not associated with spina bifida. In one patient, the tumor was located at D4 vertebral level; while in the other, within the conus medullaris. The clinical features, MRI characteristics and surgical treatment of intramedullary epidermoid cyst are presented with relevant review of the literature. 相似文献
7.
8.
Sergio Negrin-Dastis Dominique Butenda Jacques Dorzee Jacques Fastrez Jean-Paul d��Od��mont 《Canadian respiratory journal》2007,14(4):235-237
A case of pulmonary Langerhans cell histiocytosis, proved by both lung high-resolution computed tomography and lung biopsy, is described. Following smoking cessation, lung nodules and cysts gradually disappeared on serial computed tomography scans, with complete clearance of the lesions after 12 months. The role of tobacco smoking is discussed, in detail, against the background of the literature. 相似文献
9.
Post-traumatic osteolysis of the acromial extremity of the clavicle is a rare condition, usually occurring sometime after an injury to the shoulder. Three cases of PTOAC and one case of athlete's osteolysis are reported. The semiology is summed up, as well as the differential diagnoses and the associated forms. This is a benign disease, which should be suggested by the clinical findings and diagnosed on the radiographs, which demonstrate early signs of osteolysis. The treatment is mainly based on immobilization. 相似文献
10.
M. Alcalde G. Jim��nez P. D��az M. Garc��a-D��az J. M. Pascasio R. Moro J. Zapata A. L��pez-Santamar��a 《Postgraduate medical journal》1997,73(859):295-296
A debilitated patient with liver cirrhosis and poor haemostasis had a severe lower gastrointestinal haemorrhage. A superior mesenteric arteriogram revealed an early persistent and promiment draining vein in the ileocolic artery. Two fragments of Spongostan and silk were used to embolise the bleeding artery and the haemorhage ceased immediately. No infarction of the embolised area was observed and the bleeding was controlled. 相似文献