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Teresa Nunes José Paulo Monteiro José Carlos Ferreira Pedro Vilela 《European radiology》2009,19(10):2551-2554
L1 disease is the most common genetic cause of congenital hydrocephalus. Mutations in the L1CAM gene are associated with an overlapping clinical spectrum of four X-linked neurological conditions, characterized by hydrocephalus, mental retardation, lower limb spasticity and adducted thumbs. Brain anomalies are frequently present in L1 disease. We describe these anomalies by reporting a case of a male newborn presenting with congenital hydrocephalus along with corpus callosum agenesis and enlargement of the massa intermedia. These findings, in association with the presence of clasped thumbs, raised the suspicion of L1 disease, which was confirmed by the detection of a mutation in the L1CAM gene. In cases of congenital hydrocephalus, recognition of the brain anomalies associated with L1 disease may contribute to pursuing the genetic analysis needed for the diagnosis and genetic counseling. 相似文献
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Raúl González-García Francisco J Rodríguez-Campo Verónica Escorial-Hernández Mario F Mu?oz-Guerra Jesús Sastre-Pérez Luis Naval-Gías José L Gil-Díez Usandizaga 《Journal of oral and maxillofacial surgery》2006,64(11):1587-1591
PURPOSE: Temporomandibular joint (TMJ) arthroscopy has been considered a safe surgical procedure in the treatment of TMJ derangement. However, it is not exempt from complications. This study evaluates the complications of arthroscopy in patients with internal derangement of TMJ. PATIENTS AND METHODS: Five hundred consecutive patients (670 joints) with TMJ derangement who underwent arthroscopy between 1995 and 2004 were retrospectively analyzed. All the patients were classified as II to V in the Wilkes classification. Lysis and lavage, electrocautery of the posterior ligament, injection of corticoids, injection of ethanolamine, myotomy of lateral pterygoid muscle attachments, myotomy and electrocautery, motor debridement, injection of sodium hyaluronate, and meniscal suture were performed in different patients. RESULTS: Complications were recognized during or immediately after the surgery. They were observed in 5 of 341 (1.26%) arthroscopies of the right TMJ and 4 of 329 (1.21%) arthroscopies of the left TMJ. A 1.34% complication rate was found in the whole series. No blood clots within the external auditory canal were observed. Bleeding within the superior TMJ space was observed in 57 cases (8.5%), 36 of them in the right TMJ and 21 in the left TMJ, but they were not considered as true complications. Lacerations of the external auditory canal were found in 2 cases (0.3%), with no cases of perforation of the tympanic membrane. Lesion of the auriculotemporal nerve was observed in a case. Paresia of the facial nerve was found in 4 cases (0.6%). Alteration of visual accuracy of the ipsilateral eye was also observed in a patient immediately after the surgery. CONCLUSION: Special care must be taken to reduce complications within the upper joint space by means of an adequate instrumentation and by paying attention to essential points of the arthroscopic technique. 相似文献
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Henyse G V Silva Rosangela P Tórtora Maria Lucia F Farias 《Gynecological endocrinology》2005,21(3):174-179
To evaluate the impact of pregnancy on bone, we studied bone turnover at the first (T1) and third (T3) trimester of gestation in 58 adolescents and 28 healthy adolescents who had never been pregnant. Total body (TB) and lumbar spine (LS) bone mineral density (BMD) and body composition were evaluated by dual-energy X-ray absorptiometry in all control patients (C) and after parturition in 28 pregnant patients (G). Paired and unpaired t tests, Mann-Whitney and Pearson correlation tests were used. Bone turnover markers were above the reference range for adult women in more than 80% of the adolescents, with no difference between C and G patients at T1. Increase in urinary N-telopeptide crosslinks of type I collagen and serum bone-specific alkaline phosphatase, markers of bone turnover, was seen during pregnancy ( p < 0.0001). Body composition did not differ between groups, but LS BMD, percentage of expected LS BMD, LS Z-score, percentage of expected TB BMD and TB Z-score were lower in G than C patients ( p < 0.05). TB BMD was positively correlated with LS BMD (r2 = 0.52). The inverse correlations between bone markers and LS BMD suggest that the increased bone turnover during pregnancy probably explains the low bone density after parturition. The impact on future peak bone mass must be studied. 相似文献
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Pyroglutamyl, proline-rich oligopeptides, classically referred to as bradykinin-potentiating peptides (BPPs) are found in Bothrops jararaca venom, and are naturally occurring inhibitors of the somatic angiotensin-converting enzyme (ACE). The chemical and pharmacological properties of these peptides were essential for the development of captopril, the first active site directed inhibitor of ACE, currently used to treat human hypertension. ACE is a complex ectoenzyme of the vascular endothelium, possessing two catalytic sites, performing diverse specific roles. Recent advances concerning novel features of BPPs revealed that they might still contribute to a better understanding of the cardiovascular physiology and pathology. The molecular biology of the BPPs revealed that they are part of two distinct C-type natriuretic peptide precursors found in the venom gland and the brain of B. jararaca, each containing seven BPPs. In situ hybridization studies detected the presence of the corresponding mRNA precursor in snake brain regions correlated with neuroendocrine functions, such as the ventro-medial hypothalamus, the paraventricular nuclei, the paraventricular organ, and the subcommissural organ. In this article we discuss the large variety of homologous BPPs in B. jararaca venom and brain, its significance, and whether the BPPs could represent novel endogenous neuropeptides. 相似文献
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A C Da Rosa B Kemp T Paiva F H Lopes da Silva H A Kamphuisen 《Electroencephalography and clinical neurophysiology》1991,78(1):71-79
A model of sleep phasic events such as vertex waves, K complexes, delta waves and sleep spindles is proposed. It consists of feedback loops that are driven by white noise (simulating tonic delta and sigma activity) and by isolated random impulses, simulating vertex waves or K complexes, depending on the background tonic activity. A model-based method for the detection of sleep phasic events was implemented in a personal computer. Its performance was investigated using simulated and real whole-night EEG signals. The method was able to detect K complexes and vertex waves in a reliable way in spite of their variable shapes and in the presence of a variety of background activities. The detector appears to have superior performance to those so far reported in the literature. The performance of the detector was also compared to that of an electroencephalographer using normal sleep EEG records of 8 h duration from 6 subjects. The performance was satisfactory both in terms of accuracy and reliability. The problem of detecting K complexes in stages 3 and 4 of sleep is discussed. 相似文献