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991.
Alistair T Pagnamenta Kirsty Wing Elham Sadighi Akha Samantha JL Knight Sven B?lte Gabriele Schm?tzer Eftichia Duketis Fritz Poustka Sabine M Klauck Annemarie Poustka Jiannis Ragoussis Anthony J Bailey Anthony P Monaco and the International Molecular Genetic Study of Autism Consortium 《European journal of human genetics : EJHG》2009,17(5):687-692
Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare ∼2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader–Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers. 相似文献
992.
Craniofacial mucormycosis: assessment with CT 总被引:3,自引:0,他引:3
Computed tomographic (CT) scans of ten patients with rhinocerebral mucormycosis were reviewed. Early paranasal sinus involvement appeared as mucosal thickening on CT scans, usually without air/fluid levels. Recognition as mucormycosis was facilitated by knowledge of the clinical setting or by identification of invasive disease. Evidence of bone destruction on CT scans was seen in only two patients, was a late finding, and usually was absent despite deep extension of disease beyond the bony confines of the paranasal sinus. Five cases had intracranial involvement, either as fungal abscess or infarction. Intracranial mucormycosis usually involved the base of the brain and cerebellum following invasion of the infratemporal fossa or orbit. Intracerebral fungal abscess appeared as low-density masses on CT scans, with variable peripheral enhancement and little surrounding vasogenic edema. Identification of a rim of spared cortex was useful in distinguishing infection from bland infarct. Serial CT scans were also useful in assessing response to hyperbaric oxygen treatment, surgery, and chemotherapy. 相似文献
993.
Magnetic resonance (MR) imaging and computed tomography enhanced with intravenous iodine injection (ECT) were prospectively compared in 80 patients in the diagnosis of recurrent postoperative sciatica. Diagnostic accuracy was determined with surgical verification. Isolated fibrosis was considered a contraindication to surgery. A decision to operate was made in 56 of the 80 patients on the basis of MR imaging findings; in 21 of the 56, the decision was also made on the basis of ECT findings. Of the 80 patients, 45 underwent surgery, In all but one of these patients, the diagnosis made on the basis of MR imaging findings was confirmed with surgical analysis. The only surgical finding that did not agree with MR imaging findings was a calcification of the common posterior ligament. The 21 diagnoses of disk herniation based on ECT findings were confirmed surgically, but among the 24 diagnoses of fibrosis made with the help of ECT, there were actually 19 recurrent herniations, four herniations with fibrosis, and one herniation at the level above the previously resected disk. MR imaging seems to be the investigation of choice in diagnosing the cause of recurrent postoperative sciatica. 相似文献
994.
A solid-state, personal computer-based, image digitization and transmission system was developed that uses integrated services digital network (ISDN), a technology under development for ultra-high-speed data transmission over normal phone lines. Thousands of images have been transmitted to a site more than 15 miles away, with data rates exceeding 56,000 bits or 7,000 bytes (1 byte = 8 bits) per second with nearly perfect accuracy. Present modification of the system hardware and software should increase the data rate to 128,000 bits, or 16,000 bytes, per second. With this rate of transmission, remote radiologic image transmission should become a practical, routinely available diagnostic tool. 相似文献
995.
Doppman JL; Loughlin T; Miller DL; Pass HI; Chrousos GP; Cutler GB; Oldfield EH; Loriaux DL 《Radiology》1987,163(2):501-503
Three patients with Cushing syndrome secondary to ectopic adrenocorticotropic hormone (ACTH) production underwent direct 22-gauge needle aspiration of bronchial (two cases) and mediastinal (one case) carcinoid tumors. High levels of ACTH were measured in all three tumors. This technique permits absolute identification of an ectopic source of ACTH before surgery. 相似文献
996.
Full and simultaneous exploitation of features designed to maximize signal-to-noise ratio with the new generation of ultrasound equipment enabled detailed sonographic depiction of the anatomy of the hip and its surroundings. Scanning in familiar planes provided images that are easier to interpret. In addition, correlation of these images with cryomicrotome sections and histochemical studies disclosed several new findings. The articular cartilage of infant hips-composed mostly of water-is anechoic. However, the hyaline cartilage-which contains many vascular channels, columns of cartilage cells, and mesenchymal stroma-appears as alternating hypoechoic or anechoic columns and echogenic columns. The fibrocartilage of the limbus, on the other hand, is echogenic, as are other fibrous tissues. As expected, the points of attachment of the distal aspect of the synovial membrane, the fibrous capsule, and the ligaments in relation to the epiphyseal growth plate, varied with age, as did the characteristics of the cartilaginous structures. Familiarization with the sonographic appearance of normal hip anatomy in subjects of all ages is a first step toward recognition of various pathologic entities of the hip. 相似文献
997.
Expression of a functional laminin receptor (alpha 6 beta 1, very late activation antigen-6) on human eosinophils 总被引:3,自引:0,他引:3
Georas SN; McIntyre BW; Ebisawa M; Bednarczyk JL; Sterbinsky SA; Schleimer RP; Bochner BS 《Blood》1993,82(9):2872-2879
The mechanisms responsible for the accumulation of eosinophils at sites of allergic and other inflammatory reactions are unknown, but recent studies have implicated both eosinophil and endothelial adhesion molecules in this process. However, less well studied have been the adhesive interactions between eosinophils and the subendothelial basement membrane and interstitial connective tissues. To test the hypothesis that eosinophils might interact with extracellular matrix proteins, we analyzed purified human eosinophils for the expression and function of various beta 1 integrins. Using indirect immunofluorescence and flow cytometry, purified eosinophils from mildly allergic donors were found to consistently express the integrin subunits beta 1 (CD29), alpha 4 (CD49d, very late activation antigen [VLA]-4 alpha), and alpha 6 (CD49f, VLA-6 alpha). No significant expression of the alpha 1, alpha 2, alpha 3, alpha 5, or beta 4 subunits was detected. Platelet contamination of the eosinophil preparations was excluded by light microscopy and by the inability to detect expression of platelet glycoproteins alpha v, CD41b, and CD42b. Immunoprecipitation and sodium dodecyl sulfate-polyacrylamide gel electrophoresis analysis of eosinophils confirmed the expression of cell-surface beta 1, alpha 4, and alpha 6. Furthermore, eosinophils purified from allergic donors were shown to adhere to plate-bound laminin, but not to type 1 or type 4 collagen. Adhesion to laminin was concentration-dependent, required divalent cations, and was completely and specifically inhibited by the anti-alpha 6 monoclonal antibody (MoAb) GoH3 and by the anti-beta 1 MoAb 33B6. Interestingly, the anti-beta 1 MoAb 18D3 (which like 33B6 blocks eosinophil binding to VCAM-1) did not inhibit eosinophil adhesion to laminin, suggesting that there are functionally distinct epitopes on the beta 1 subunit. Eosinophils purified from 4 healthy, nonallergic donors also showed alpha 6-dependent adhesion to laminin, although these cells adhered less well. These studies establish the expression of alpha 6 beta 1 on human eosinophils and document its function as a laminin receptor. Interaction of eosinophil alpha 6 beta 1 with laminin, eg, in basement membranes, may contribute to the localization of these cells at inflammatory sites in vivo. 相似文献
998.
Petrosal sinus sampling for Cushing syndrome: anatomical and technical considerations. Work in progress 总被引:1,自引:0,他引:1
Doppman JL; Oldfield E; Krudy AG; Chrousos GP; Schulte HM; Schaaf M; Loriaux DL 《Radiology》1984,150(1):99-103
ACTH-producing microadenomas of the pituitary gland drain unilaterally into the adjacent cavernous sinus; therefore, petrosal sinus sampling to distinguish pituitary from ectopic-ACTH syndromes must always be performed bilaterally. A negative finding from a unilateral petrosal sinus sample does not exclude the presence of a contralateral ACTH-producing microadenoma. Hemiresection of the pituitary gland based on results of bilateral sampling can be performed if the adenoma is too small to be recognized at surgery. Large pituitary adenomas produce elevated ACTH levels in the petrosal sinuses bilaterally. However, if plain radiographs or CT scans provide unequivocally positive findings in Cushing syndrome (less than 20%), inferior petrosal sinus sampling is not indicated. 相似文献
999.
Brunberg JA; DiPietro MA; Venes JL; Dauser RC; Muraszko KM; Berkey GS; D'Amato CJ; Rubin JM 《Radiology》1991,181(2):573-579
Findings of preoperative magnetic resonance (MR) imaging and radiologist-directed intraoperative sonography (IOS) were correlated with surgical and pathologic findings in 11 pediatric patients with intramedullary spinal cord lesions. There were seven gliomas and one each of primitive neuroectodermal tumor, venous vascular malformation, neuroenteric cyst, and active schistosomiasis. MR imaging provided discrete preoperative anatomic localization and excluded multicentric lesions but did not reliably distinguish between solid and cystic lesions. IOS helped (a) define the limits of intramedullary mass before the dura mater was opened and (b) differentiate cystic from solid components. The internal architecture of intramedullary lesions, as shown with MR imaging and sonography, was strikingly similar, allowing discrete correlative localization for biopsy or tissue resection. Gadolinium-enhanced MR imaging and IOS are complementary imaging techniques that should be used in concert for the evaluation and management of intramedullary lesions of the pediatric spinal cord. Both techniques display regions of cord abnormality, but neither definitively characterizes underlying tissue histology. 相似文献
1000.
JL Pedersen K Nysom M J?rgensen CT Nielsen J Müller N Keiding NE Skakkebaek 《Archives of disease in childhood》1993,69(3):384-387
The pattern of spermaturia in boys at different stages of puberty was investigated. Fractionated 24 hour urine was collected for nine consecutive days from eight boys aged 13-14 years and 10 boys aged 15-17 years. Spermatozoa were detected by microscopic examination of the sediment. Sex characteristics were recorded. Fifty five per cent of all urine samples were positive for sperm and all boys showed spermaturia. A large variation in spermaturia was found between and within boys at the same stage of puberty. Spermaturia was a more common and regular event during early and mid-puberty than in more mature subjects. This indicates that the mechanism of spermaturia in early and late puberty could be different. It is suggested that spermaturia in non-virilised boys could be a result of a spontaneous, continuous flow of spermatozoa to the urethra in contrast with the peristaltic flow during ejaculation occurring at a later stage of puberty. 相似文献