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排序方式: 共有355条查询结果,搜索用时 140 毫秒
1.
Marion Tardieu Najat Salameh Line Souris David Rousseau Laurène Jourdain Hanadi Skeif François Prévot Ludovic de Rochefort Denis Ducreux Bruno Louis Philippe Garteiser Ralph Sinkus Luc Darrasse Marie Poirier-Quinot Xavier Maître 《NMR in biomedicine》2022,35(7):e4701
Magnetic resonance elastography aims to non-invasively and remotely characterize the mechanical properties of living tissues. To quantitatively and regionally map the shear viscoelastic moduli in vivo, the technique must achieve proper mechanical excitation throughout the targeted tissues. Although it is straightforward, ante manibus, in close organs such as the liver or the breast, which practitioners clinically palpate already, it is somewhat fortunately highly challenging to trick the natural protective barriers of remote organs such as the brain. So far, mechanical waves have been induced in the latter by shaking the surrounding cranial bones. Here, the skull was circumvented by guiding pressure waves inside the subject's buccal cavity so mechanical waves could propagate from within through the brainstem up to the brain. Repeatable, reproducible and robust displacement fields were recorded in phantoms and in vivo by magnetic resonance elastography with guided pressure waves such that quantitative mechanical outcomes were extracted in the human brain. 相似文献
2.
The aim of this work was to evaluate NMR cerebellar abnormalities in children with severe acute ataxia. Among 8 consecutively observed children, NMR performed in 6 during the acute phase was pathological in 4, demonstrating hyperintense signal in the T2-weighed sequences of dentate nuclei (2 cases, associated in 1 with hyperintense signal in the medium cerebellar peduncle) or of the cerebellar cortex associated with cerebellar swelling (2 cases). NMR performed in 7 cases after at least 1 month of evolution showed cerebellar atrophy in 4 cases. After 1 to 6 years of clinical follow-up, 4/8 children had clinical sequellae, including 3 of the 4 children with initially abnormal NMR. Conversely, the 2 patients with initially normal NMR had a good clinical recovery. NMR during the acute phase gives informations on prognosis in patients with severe acute ataxia. 相似文献
3.
E. LeGuern R. Gouider D. Mabin S. Tardieu Bs N. Birouk P. Parent P. Bouche A. Brice 《Annals of neurology》1997,41(1):104-108
Charcot-Marie-Tooth type 1A disease is an inherited sensorimotor neuropathy that is most often associated with a duplication of chromosome 17p11.2. This region contains the gene of the peripheral myelin protein 22 (PMP22), which is responsible by a gene dosage effect for the Charcot-Marie-Tooth type 1A phenotype with 17p11.2 duplication. We performed a clinical, electrophysiological, and genetic study of a consanguinous Charcot-marie-Tooth type 1A family with 4 affected siblings, 3 of whom were homozygous for the 17p11.2 duplication, the other a heterozygote. Comparison of phenotypes showed that the severity of the disease was more severely affected than the heterozygous sibling who was pausiymptomatic. These results suggest that the severity of the disease is not determined solely by the number of copies of the PMP22 gene. 相似文献
4.
Pediatric MS is better understood after a series of epidemiological studies including the French cohort following almost 500 children since more than 7 years. Pediatric MS may have an onset as early as 2 years but symptoms are different than those at adolescence. Its evolution towards a motor handicap is slower than in adults but cognitive impairment have to be evaluated carefully. Interferon beta treatment can be use, if needed, even before the age of 10. Several environmental factors might increase its risk, especially early EBV infection or passive smoking. HBV vaccination does not increase significantly its risk of occurrence. 相似文献
5.
Ravisé N Dubourg O Tardieu S Aurias F Mercadiel M Coullin P Ruberg M Catala M Lesourd S Brice A LeGuern E 《American journal of medical genetics. Part A》2003,(1):43-48
Charcot-Marie-Tooth (CMT) disease and hereditary neuropathy with pressure palsies (HNPP) are two frequent hereditary motor and sensory neuropathies. CMT is characterized by slowly progressive weakness and atrophy, primarily in peroneal and distal leg muscles. The most frequent form, CMT1A, is due, in most cases, to the duplication of a 1.5 Mb region on chromosome 17p11.2 containing the peripheral myelin protein 22 gene (PMP22). The phenotype seems to result from dosage of the PMP22 gene. This hypothesis is reinforced by the existence of HNPP, which is clinically characterized by various recurrent truncular palsies or sensory loss precipitated by minor trauma, which is caused by deletion of the same 1.5 Mb region in 17p11.2. In clinical practice, the detection of the duplication or the deletion in 17p11.2, which permits a positive diagnosis, is still performed by time consuming methods (Southern blot or various combinations of molecular tools). We developed a method for the rapid detection of 17p11.2 rearrangements, using "direct FISH" and PRINS analyses, which does not require cell culture. In a prospective study of 92 patients with CMT and 38 with suspected HNPP, we compared this new technique to classical strategies like Southern blot. The results demonstrate the high sensitivity and specificity of the new FISH technique for the diagnosis of CMT1A and HNPP. Moreover, because of its simplicity and rapidity, this technique provides a useful alternative to the molecular approaches that have been used to diagnose segmental aneusomies, especially in the case of duplications that often go undetected. 相似文献
6.
Parental origin of de novo MECP2 mutations in Rett syndrome 总被引:6,自引:0,他引:6
Girard M Couvert P Carrié A Tardieu M Chelly J Beldjord C Bienvenu T 《European journal of human genetics : EJHG》2001,9(3):231-236
Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases. Recently, DNA mutations in the MECP2 gene have been detected in approximately 70% of patients with RTT. To explain the sex-limited expression of RTT, it has been suggested that de novo X-linked mutations occur exclusively in male germ cells resulting therefore only in affected daughters. To test this hypothesis, we have analysed 19 families with RTT syndrome due to MECP2 molecular defects. In seven informative families we have found by DHPLC a nucleotide variant which could be used to differentiate between the maternal and the paternal allele. In each subject investigated from these families, we have amplified specifically each allele and sequenced allele-specific PCR products to identify the allele bearing the mutation as well as the parental origin of each X chromosome. This approach allowed us to determine the parental origin of de novo mutations in all informative families. In five cases, the de novo MECP2 mutations have a paternal origin and in the two other cases a maternal origin. In all transitions at CpG, the de novo mutation observed was of paternal origin. The high frequency of male germ-line transmission of the mutation (71% of RTT informative cases) is consistent with a predominant occurrence of the disease in females. 相似文献
7.
D. Décimo Odile Boespflug M. Meunier-Rotival Michelle Hadchouel M. Tardieu 《Archives of virology》1993,130(3-4):269-277
Summary To study the host-dependent genetic variations in murine hepatitis virus type 3 (MHV 3) induced diseases, we localized the sites of MHV 3 (Mill Hill strain) expression within liver and brain by immunohistochemistry or hybridization in situ. Two strains of mice were studied: BALB/c mice, which develop an acute and lethal hepatitis and C3H mice which develop a chronic brain infection. In BALB/c mice, viral RNA and antigens appeared during the first 24 h post infection (p.i.) in liver, whereas viral RNA was barely detectable in brain, up until death at day 3 p.i. In C3H mice, viral RNA and antigens were detected simultaneously in liver and brain only at day 2 p.i. In brain, the virus was detected in meningeal and ependymal cells and in perivascular cortical areas (days 5 and 7 p.i.). After day 49, the virus was no longer detected in brain parenchyma, but persisted in meningeal cells. Two host-dependent genetic differences in viral processing were observed in the liver: (1) the virus was first detected in Kupffer cells in BALB/c mice and mostly in hepatocytes in C3H mice; (2) in BALB/c mice, the 180 kDa S viral glycoprotein appeared more frequently cleaved in 90 kDa form than in C3H mice. 相似文献
8.
Summary Previous papers gave some methods for the reliable measurement of the tibia-calcaneum angle. It is of common use to evaluate the physical properties of triceps surae on the basis of torque-angle curves. However this method is reliable only if each tibia-calcaneum angle corresponds to a defined distance between the insertions of the muscle in subjects of the same height. Evidence is given by radiological measurements that this correspondance is correct in normal children. However, this is no longer true in certain cerebral palsied children because of abnormal translation of the calcaneum and/or abnormal ratio of bone sizes. In this case the torque-angle curves do not define properly the torque-length curves. A method of correction is given. This correction may be as high as 15.MaÎtre de Recherche INSERM (Paris), grant No. 7411766 and U.E.R. Paris-Ouest 相似文献
9.
Bernard R Labelle V Negre P Tardieu S Azulay JP Malzac P Mattéi JF Leguern E Philip N Lévy N 《European journal of human genetics : EJHG》2000,8(3):229-235
Charcot-Marie-Tooth disease, type 1A (CMT1A) is caused in most cases by a 1.5 Mb duplication on chromosome 17p11.2 arising after unequal crossing-over between repeated sequences called CMT1A-REPs, flanking the 1.5 Mb unit. A 3.2 kb recombination hot spot has been defined, resulting in a junction fragment between EcoRI (distal CMT1A-REP) and SacI (proximal CMT1A-REP). This was further reduced to a 1.7kb EcoRI-NsiI fragment, and recently to a 731 bp hot spot region within this fragment. We describe the CMT1A-REPs-based PCR method used to identify CMT1A duplications and report on a family case in which a 29-year-old pregnant woman requested prenatal diagnosis for two successive pregnancies because her husband was affected with CMT1A. Our method enabled us to characterise the duplication in both foetuses and demonstrate that it arose from a rare recombination event taking place outside the 1.7 kb region. Since our approach is simple and enables the entire set of duplications occurring after recombination in the enlarged 3.2kb region including the hot spot to be detected, we suggest it might be considered for use in primary screening for pre- and postnatal diagnosis of CMT1A. 相似文献
10.
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? 总被引:2,自引:1,他引:2
LeGuern E; Gouider R; Ravise N; Lopes J; Tardieu S; Gugenheim M; Abbas N; Bouche P; Agid Y; Brice A 《Human molecular genetics》1996,5(1):103-106
Hereditary neuropathy with liability to pressure palsies (HNPP) is an
autosomal dominant neuropathy, most often associated with a deletion of the
17p11.2 region, which is duplicated in 70% of patients with Charcot-
Marie-Tooth type 1 (CMT1A). Most de novo CMT1A and HNPP cases have been of
paternal origin. A rare case of de novo HNPP of maternal origin was
analysed to determine the underlying mechanism. Affected individuals in the
family carried a deletion corresponding to the CMT1A/HNPP monomer unit
associated with a rearrangement of the CMT1A-REP sequences. Segregation
analysis of 17p11-p12 markers in the family indicated that the deletion was
not generated by unequal crossing over between homologous 17 chromosomes,
as in de novo cases from paternal origin, but rather by an intrachromosomal
rearrangement. Two distinct mechanisms can therefore lead to the same
17p11.2 deletion. This result suggests that intrachromosomal rearrangement
may be specific to maternal transmissions.
相似文献