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71.
Moro C Dangelser G Veyckemans F 《Annales fran?aises d'anesthèsie et de rèanimation》2007,26(4):359-362
A 3-year-old boy of North African decent was seen in the anaesthetic preoperative clinic prior to a scheduled adenoidectomy. His history revealed that his older brother suffered from an unknown form of muscular dystrophy. On clinical exam, no signs of muscular dystrophy were present. However in light of the patient's family history a blood sample for CPK was taken. This was found to be elevated and a neurological consultation was obtained. The patient was diagnosed with a deltasarcoglycanopathy, a rare form of limb girdle muscular dystrophy. A non triggering anaesthetic technique was used, avoiding halogenated anaesthetics and succinylcholine. The preoperative evaluation for a child with a suspected myopathy and the implications for its anaesthetic management are reviewed in this article. 相似文献
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Résumé L’historique du test de discrimination de deux points statiques et la controverse qui en a découlé est présenté. La passation
de ce test est reconsidérée sur la base des études antérieures, d’un examen des critiques émises et sur notre propre expérience.
L’apparente simplicité de ce test est décrite d’une manière détaillée: finalité, but, matériel, passation, résultat et interprétation.
En particulier, la passation est présentée pour l’examen clinique en cabinet: position, territoire à tester, type de stimulation,
explications au patient, recherche de la distance de référence et le test quantitatif lui-même. Les perspectives du test de
dicrimination de deux points statiques lors de l’examen neurologique sont discutées. Une liste des précautions à prendre pour
garantir la validité et la fidélité de ce test sont énumérées.
相似文献
76.
《Annales d'endocrinologie》2015,76(1):67-70
Nocturnal enuresis is a common symptom in children. It is usually attributed to benign causes and diagnostic evaluation is not carried out. We report three male young patients initially presenting with short stature and nocturnal enuresis, related to diabetes insipidus, caused by intracranial germinomatous germ cell tumors. In all three cases, water deprivation tests confirmed diabetes insipidus. Extensive endocrinological investigation also showed further hormone deficiencies. Magnetic resonance imaging of the brain revealed the presence of a central nervous system lesion and histology confirmed the final diagnosis. Surgery, radiation with or without chemotherapy was conducted and the patients were treated with hormone replacement therapies. The patients after a long follow-up were free of disease. We present these cases to alert clinicians to bear in mind that the presence of an intracranial germinomatous germ cell tumor should at least be considered in a child presenting with bed wetting, especially if additional symptoms and signs, including late onset puberty and growth delay or morning hypernatremia, may coexist. 相似文献
77.
Gonadal dysgenesis with female phenotype is defined as the absence or insufficient development of the ovaries. Hypogonadism or impuberism are variable, depending on the degree of gonadal development. Mayer-Rokitansky-Küster-Hauser syndrome is a rare malformative anomaly (1/5000 women) associating uterine and vaginal aplasia with normal ovaries. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. Hormone assay revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. Internal genitalia could not be identified on the pelvic ultrasound. Laparoscopy was undertaken and revealed concomitant ovarian dysgenesis and Mayer-Rokitansky-Küster-Hauser syndrome. There were no other morphological malformations. An association between these two conditions is very exceptional and appears to be coincidental, independent of chromosomal anomalies. Hormone substitution therapy remains the only therapeutic option. Hormone substitution is aimed at triggering the development of secondary sexual characters and prevent osteoporosis. There remains the unsolved problem of infertility. 相似文献
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Veyckemans F 《Annales fran?aises d'anesthèsie et de rèanimation》2012,31(1):e13-e16
This paper critically reviews the new devices that can be used on the operating room to monitor the oxygenation and the haemodynamics of the child undergoing general anaesthesia. 相似文献