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1.
2.
Intratemporal vascular tumors: detection with CT and MR imaging 总被引:1,自引:0,他引:1
Lo WW; Shelton C; Waluch V; Solti-Bohman LG; Carberry JN; Brackmann DE; Wade CT 《Radiology》1989,171(2):445-448
The diagnostic contributions of computed tomography (CT) and magnetic resonance (MR) imaging were compared in 12 patients with benign intratemporal vascular tumors (hemangioma or vascular malformation). The tumors included six in the internal acoustic canal and six in the geniculate ganglion region. Clinical and histologic correlations were made. Two of the six patients with tumors in the internal acoustic canal underwent CT, and both required gas cisternography to show the tumor. Five patients in that group underwent MR imaging, and all five studies showed the tumor. All six patients with geniculate ganglion tumors underwent CT. Results in one study were questionable, and five showed the tumor. Five patients in this group underwent MR imaging, but the MR findings were positive in only two cases. MR imaging should therefore be performed before CT in the evaluation of facial nerve dysfunction, as it demonstrated all tumors in the internal acoustic canal and some in the geniculate ganglion region. If MR findings are negative, CT should then be performed to rule out a possible geniculate ganglion lesion. 相似文献
3.
骨巨细胞瘤的MRI诊断价值 总被引:10,自引:0,他引:10
目的探讨骨巨细胞瘤的MRI表现特点及其病理基础。资料与方法搜集经手术病理证实的12例骨巨细胞瘤患者资料,分析其MRI征象并与病理结果对照。结果T1WI上肿瘤实体表现为低、等信号,T2WI上为不均匀高信号,Gd-DTPA增强扫描呈中度到明显强化。此外,MRI还可显示肿瘤内坏死、出血、含铁血黄素沉着等。结论MRI能够提供比较全面的影像学信息,可提高对骨巨细胞瘤诊断的准确性。 相似文献
4.
5.
Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy 总被引:7,自引:6,他引:7
While an unstable CTG triplet repeat expansion is responsible for myotonic
dystrophy, the mechanism whereby this genetic defect induces the disease
remains unknown. To detect proteins binding to CTG triplet repeats, we
performed bandshift analysis using as probes double- stranded DNA fragments
having CTG repeats [ds(CTG)6-10] and single- stranded oligonucleotides
having CTG repeats ss(CTG)8 or RNA CUG triplet repeats (CUG)8. The source
of protein was nuclear and cytoplasmic extracts of HeLa cells, fibroblasts
and myotubes. Proteins binding to the double-stranded DNA repeat
[ds(CTG)6-10], were inhibited by nonlabeled ds(CTG)6-10, but not by a
non-specific DNA fragment (USF/AD-ML). Another protein binding to ssCTG
probe and RNA CUG probe was inhibited by nonlabeled (CTG)8 and (CUG)8.
Nonlabeled oligos with different triplet repeat sequences, ss(CAG)8 or
ss(CGG)8, did not inhibit binding to the ss(CTG)8 probe. However, when
labeled as probes, the (CAG)8 and (CGG)8 bound to proteins distinct from
the CTG proteins and binding was inhibited by nonlabeled (CAG)8 or (CGG)8
respectively. The protein binding only to the RNA repeat (CUG)8 was
inhibited by nonlabeled (CUG)8 but not by nonlabeled single- or
double-stranded CTG repeats. Furthermore, the CUG-BP exhibited no binding
to an RNA oligonucleotide of triplet repeats of the same length but having
a different sequence, CGG. The CUG binding protein was localized to the
cytoplasm, whereas dsDNA binding proteins were localized to the nuclear
extract. Thus, several trinucleotide binding proteins exist and their
specificity is determined by the triplet sequence. The novel protein,
CUG-BP, is particularly interesting since it binds to triplet repeats known
to be present in myotonin protein kinase mRNA which is responsible for
myotonic dystrophy.
相似文献
6.
Constance Schrander-Stumpel Christine de Die-Smulders Marc de Krom Suzanne Schyns-Fleuren Ben Hamel Deni Jaeken Jean-Pierre Fryns 《Clinical genetics》1993,43(6):303-308
Schrander-Stumpel C, de Die-Smulders C, de Krom M, Schyns-Fleuren S, Hamel B, Jaeken D, Fryns J-P. Marden-Walker syndrome: case report, literature review and nosologic discussion.
Clin Genet 1993: 43: 303–308. © Munksgaard, 1993
The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker malformation with hydrocephalus and vertebral abnormalities. During pregnancy, there were feeble fetal movements and polyhydramnios. We propose that Marden-Walker syndrome is one of the etiologic possibilities in children with the heterogeneous fetal a(hypo)kinesia deformation sequence (FADS). Differential diagnosis is discussed. The etiology is probably heterogeneous. 相似文献
Clin Genet 1993: 43: 303–308. © Munksgaard, 1993
The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker malformation with hydrocephalus and vertebral abnormalities. During pregnancy, there were feeble fetal movements and polyhydramnios. We propose that Marden-Walker syndrome is one of the etiologic possibilities in children with the heterogeneous fetal a(hypo)kinesia deformation sequence (FADS). Differential diagnosis is discussed. The etiology is probably heterogeneous. 相似文献
7.
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
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C T Schrander-Stumpel C J H?weler A D Reekers N M De Smet J G Hall J P Fryns 《Journal of medical genetics》1993,30(1):78-80
Arthrogryposis multiplex congenita is a heterogeneous condition and many different types are clinically recognisable. Recently, a new type of autosomal dominant arthrogryposis was described in a father and son. We report on a male patient with similar clinical features, confirming this distinct type of arthrogryposis. The condition is characterised by congenital contractures of the hands and feet with diminished or absent phalangeal creases, ophthalmoplegia, a rigid trunk, deep set eyes, and (in the oldest patient) an abnormal electroretinogram. Differential diagnosis from amyoplasia, the different types of distal arthrogryposis, and symphalangism is discussed. 相似文献
8.
Ricardo Pietrobon Anand Shah Paul Kuo Matthew Harker Mariana McCready Christeen Butler Henrique Martins CT Moorman Danny O Jacobs 《BMC medical informatics and decision making》2006,6(1):32-11
Background
Although regulatory compliance in academic research is enforced by law to ensure high quality and safety to participants, its implementation is frequently hindered by cost and logistical barriers. In order to decrease these barriers, we have developed a Web-based application, Duke Surgery Research Central (DSRC), to monitor and streamline the regulatory research process. 相似文献9.
Trisomy 17p due to a t(8; 17) (p23; p11.2)pat translocation. Case report and review of the literature 总被引:2,自引:0,他引:2
We describe a female newborn girl with partial trisomy 17p, which was not detected at the initial cytogenetic investigation, but which later proved to be an unbalanced product of a paternal translocation t(8; 17)(p23;pl 1.2). Comparison with the three previously reported patients suggests a clinically distinct "trisomy 17p syndrome", i.e. pre- and postnatal growth retardation, microcephaly, antimongoloid slanting of palpebral fissures, hypertelorism, long philtrum with thin upper lip, micrognathia and high-arched palate. Two of the four patients had a heart defect, and psychomotor developmental delay was evident in all four cases. In the present patient, the chromosomal anomaly was only detected after the finding of the autosomal reciprocal translocation in the father. The importance of cytogenetic investigations in parents of a MCA/MR child with apparently normal chromosomes is emphasized. 相似文献
10.
Schrander-Stumpel CT Curfs LM Sastrowijoto P Cassidy SB Schrander JJ Fryns JP 《American journal of medical genetics. Part A》2004,(4):333-338
The peroxisome biogenesis disorders (PBDs) with generalized peroxisomal dysfunction include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). There is clinical, biochemical, and genetic overlap among the three phenotypes, also known as Zellweger spectrum disorders. Clinical distinctions between the phenotypes are not sharply defined. Only limited sources are available to serve as a background for prognosis in PBD, especially in case of prolonged survival. We delineated the natural history of 31 PBD patients (age 1.2-24 years) through systematic clinical and biochemical investigations. We excluded classical ZS from our study, and included all patients with a biochemically confirmed generalized peroxisomal disorder over 1 year of age, irrespective of the previously diagnosed phenotype. The initial clinical suspicion, age at diagnosis, growth, development, neurological symptoms, organ involvements, and survival are summarized. Common to all patients were cognitive and motor dysfunction, retinopathy, sensorineural hearing impairment, and hepatic involvement. Many patients showed postnatal growth failure, 10 patients displayed hyperoxaluria of whom 4 had renal stones. Motor skills ranged from sitting with support to normal gait. Speech development ranged from non-verbal expression to grammatical speech and comprehensive reading. The neurodevelopmental course was variable with stable course, rapid decline with leukodystrophy, spinocerebellar syndrome, and slow decline over a wide range of faculties as outcome profiles. At the molecular level, 21 patients had mutations in the PEX1 gene. The two most common PEX1 mutations were the G843D (c.2528G-->A) missense and the c.2097insT frameshift mutation. Patients having the G843D/G843D or the G843D/c.2097insT genotypes were compared. Patients homozygous for G843D generally had a better developmental outcome. However, one patient who was homozygous for the "mild" G843D mutation had an early lethal disease, whereas two other patients had a phenotype overlapping with the G843D/c.2097insT group. This indicates that next to the PEX1 genotype other yet unknown factors determine the ultimate phenotype. 相似文献