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51.
Organization, expression and polymorphism of the human persyn gene 总被引:13,自引:0,他引:13
Ninkina NN; Alimova-Kost MV; Paterson JW; Delaney L; Cohen BB; Imreh S; Gnuchev NV; Davies AM; Buchman VL 《Human molecular genetics》1998,7(9):1417-1424
Persyn is a recently identified member of the synuclein family with a
distinct pattern of expression during pre- and postnatal development of the
mouse peripheral and central nervous systems. As with other synucleins,
persyn is believed to be involved in the pathogenesis of human
neurodegenerative diseases. However, in contrast to other synucleins, high
levels of persyn mRNA expression were also found in advanced breast
carcinomas, suggesting an involvement of the encoded protein in breast
tumour progression. Here we have used an antibody specific to human persyn
to demonstrate that the level of this protein is increased in ageing
cerebral cortex and in breast tumours. We cloned, characterized and
sequenced the human persyn genomic locus and localized it to the long arm
of chromosome 10 in the q23.2-q23.3 region. Sequence information was used
to search for specific mutations in the protein coding regions of persyn
mRNA and the persyn gene in breast tumours and tumour cell lines. No
tumour-specific mutations were found, but two linked polymorphisms in the
coding region were detected, both in mRNA and exons III and IV of the gene.
These results suggest that development of breast tumours correlates with
overexpression of the wild-type persyn protein. Detailed characterization
of the human persyn locus is important for further studies of the
involvement of persyn in neurodegeneration and malignancy.
相似文献
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54.
Simulated pulmonary nodules: detection with dual-energy digital versus conventional radiography 总被引:9,自引:0,他引:9
Niklason LT; Hickey NM; Chakraborty DP; Sabbagh EA; Yester MV; Fraser RG; Barnes GT 《Radiology》1986,160(3):589-593
Performance of a prototype dual-energy digital chest radiography unit in detecting calcified and noncalcified simulated pulmonary nodules was compared with that of a highly optimized, conventional system. Nodules ranging in size (0.5, 1.0, and 1.6 cm), in number (five to 11), and in calcium content (0-25 mg) were superimposed over the lungs of a frozen, unembalmed, human chest phantom. For each technique, six observers examined 50 posteroanterior projections with different randomized nodule locations. Detection consisted of locating and assigning a level of confidence to each perceived nodular opacity. The resulting plots of the true-positive fraction versus the mean number of false-positive calls per projection indicate that for both calcified and noncalcified nodules, the digital unit performed significantly better (P less than .01). 相似文献
55.
Anja?C?Waselau Daniel?Nadler Jessika?MV?Müller Katalin?Zlinszky Monika?Hilbe J?rg?A?Auer Brigitte?von RechenbergEmail author 《BMC musculoskeletal disorders》2005,6(1):60
Background
Differences in overall performance of osteochondral photooxidized grafts were studied in accordance of their species origin and a new, more rigorous cleansing procedure using alcohol during preparation. 相似文献56.
J Vega Gutiérrez † A Miranda Romero † G Martínez ‡ MV Torrero † M López de Juan§ 《Journal of the European Academy of Dermatology and Venereology》2003,17(3):324-327
The Laugier-Hunziker syndrome is an acquired, idiopathic, benign mucocutaneous hypermelanosis that usually occurs on the lips and oral mucosa, although it may appear at other sites. Nails are frequently involved, mainly forming longitudinal hyperpigmented bands. We report the case of a patient that presented a typical picture of this entity, nearly 1 year after the beginning of treatment with levodopa. Two years after the first lesions occurred, she developed Addison's disease. The patient suffered from a diffuse discrete hyperpigmentation (it was more remarkable on exposed areas) and an intensification of the melanotic macules that were previously noticeable before in oral and genital mucosa, fingers, toes and nails. Hormonal replacement treatment enabled the control of laboratory and general manifestations and to decrease the degree of mucocutaneous hyperpigmentation considerably, despite initial hyperpigmented lesions persisting in described areas. 相似文献
57.
Acute spinal cord injury: MR imaging at 1.5 T 总被引:19,自引:0,他引:19
Kulkarni MV; McArdle CB; Kopanicky D; Miner M; Cotler HB; Lee KF; Harris JH 《Radiology》1987,164(3):837-843
Thirty-seven magnetic resonance (MR) imaging studies were performed with a 1.5-T magnet and surface coils in 27 patients with suspected spinal cord injuries. Imaging was performed 1 day to 6 weeks after injury. Cord abnormalities were seen with MR in 19 patients, while skeletal and/or ligamentous injuries were seen in 21 (78%). Three types of MR signal patterns were seen in association with cord injuries. Acute intraspinal hemorrhage was seen in five patients with cord injuries and demonstrated decreased signal intensity on T2-weighted images obtained within 24 hours of injury. Cord edema and contusion had high signal intensity on T2-weighted images and were observed in 12 cases with cord injury. Neurologic recovery, determined in 16 patients, was insignificant in patients with intraspinal hemorrhage; however, patients with cord edema or contusion recovered significant neurologic function. MR at 1.5 T is extremely useful in the diagnosis of acute cord injury and also demonstrates potential in predicting neurologic recovery. 相似文献
58.
MV Pravin Charles Mariya Joseph Noyal Joshy M Easow Ravishankar M 《The Australasian medical journal》2011,4(11):632-634
Aspergillus spp. often colonise the respiratory tract of critically ill patients in intensive care units and subsequently cause invasive disease. The risk of developing invasive disease is more in immunocompromised patients. Here we report a case of fatal invasive pulmonary aspergillosis caused by Aspergillus versicolor in a post-operative patient on mechanical ventilation, who did not respond to intravenous itraconazole. We then discuss the challenges involved in the accurate diagnosis of this condition and appropriate management. 相似文献
59.
Differences in constitutive and post-methotrexate folylpolyglutamate synthetase activity in B-lineage and T-lineage leukemia 总被引:5,自引:1,他引:5
Folylpolyglutamate synthetase (FPGS) is responsible for the metabolism of natural folates and a broad range of folate antagonists to polyglutamate derivatives. Recent studies indicated increased accumulation of methotrexate (MTX) polyglutamates (MTX-PG) in blast cells as a predictor of favorable treatment outcome in childhood acute lymphoblastic leukemia (ALL). We determined the expression of FPGS activity in blasts from children with ALL at diagnosis and after treatment with MTX as a single agent, before conventional remission induction therapy. The levels of enzyme activity in ALL blasts at diagnosis (median of 689 pmol/h/mg protein) were significantly higher (P = .003) than those found in acute nonlymphoblastic leukemia (ANLL) blasts (median of 181 pmol/h/mg protein). Comparable lineage differences in normal lymphoid versus nonlymphoid cells suggest a lineage-specific control of FPGS expression, FPGS activity increased in ALL blasts after in vivo exposure to MTX. The median increase in FPGS activity was significantly higher (P = .003) in B-lineage ALL (188%) than in T-lineage ALL (37%). Likewise, the percentage of intracellular long chain MTX-PG (Glu3-6) was significantly higher (P = .02) in B- lineage ALL (92%) than in T-lineage ALL (65%), consistent with higher FPGS activity in B-lineage blasts. This finding could explain, at least in part, the superior outcome in children with B-lineage ALL treated with antimetabolite therapy. 相似文献
60.
Clinical bleeding tendency and tests of immune function were studied prospectively in 11 human immunodeficiency virus (HIV)-infected hemophiliacs with immune thrombocytopenic purpura (ITP) and a platelet count less than 50,000/microL. These 11 patients represented 13% of a well-characterized cohort of 87 HIV + hemophiliacs. ITP developed a mean 3.5 years after seroconversion, mean platelet count at presentation was 36,000/microL (range 15,000 to 49,000/microL), and the mean age at seroconversion was 37.1 years. Nine patients (82%) suffered bleeding complications, including four with intracranial hemorrhage, which was fatal in three. At the onset of ITP, five had AIDS and six were asymptomatic. Mean T4 lymphocyte count at onset of ITP was 126 +/- 32/microL (range 5 to 267/microL). Sustained treatment responses occurred with intravenous gammaglobulin (2 of 2), one of whom spontaneously remitted, and with zidovudine (1 of 2), but not with steroids (0 of 6) or danazol (0 of 3). In conclusion, 13% of a cohort of HIV + hemophiliacs has developed ITP with platelets less than 50,000/microL, a significant proportion of whom (82%) have experienced bleeding complications. It is recommended that treatment for ITP in HIV + hemophiliacs be instituted once the platelet count falls below 50,000/microL in order to avoid serious hemorrhagic sequelae. 相似文献