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61.
62.
L. Dvorakova J. Sikora M. Hrebicek H. Hulkova M. Bouckova L. Stolnaja M. Elleder 《Journal of inherited metabolic disease》2006,29(4):591
Summary We present the third case of Niemann–Pick disease type C without neurological symptoms. The patient was a 53-year-old woman
without significant prior health problems who died of acute pulmonary embolism. Autopsy findings of hepatosplenomegaly, lymphadenopathy
and ceroid-rich foam cells raised the suspicion of the visceral form of acid sphingomyelinase deficiency (Niemann–Pick disease
type B; NPB) or a much rarer disorder, variant adult visceral form of Niemann–Pick disease type C (NPC). To verify the histopathological
findings, SMPD1, NPC1 and NPC2 genes were analysed. Two novel sequence variants, c.1997G>A (S666N) and c.2882A>G (N961S) were detected in the NPC1 gene. No pathogenic sequence variants were found either in the SMPD1 gene mutated in NPB or in NPC2 gene. The pathogenicity of both NPC1 variants was supported by their location in regions important for the protein function. Both variations were not found in
more than 300 control alleles. Identified sequence variations confirm the diagnosis of the extremely rare adult visceral form
of Niemann–Pick disease type C, which is otherwise dominated by neurovisceral symptoms. Although only three patients have
been reported, this (most probably underdiagnosed) form of NPC should be considered in differential diagnosis of isolated
hepatosplenomegaly with foam cells in adulthood.
Electronic supplementary material Supplementary material is available for this article at 相似文献
63.
Neetu Radhakrishnan M.D. Chong. H. Park M.D. Barry M. Kaplan M.D. F.A.C.C. Rajiv Jauhar M.D. F.A.C.C. 《The International journal of angiology》2006,15(1):37-42
A 65-year-old man developed acute limb ischemia, severe abdominal wall and lower limb livedo reticularis following a coronary
angiogram. The differential diagnoses of acute limb ischemia and multiple cholesterol emboli syndrome (MCES) are discussed.
This work was performed at Long Island Jewish Medical Center, 270-05, 76th Avenue, New Hyde Park, NY 11040. 相似文献
64.
Light emitting diodes for auramine O fluorescence microscopic screening of Mycobacterium tuberculosis. 总被引:1,自引:0,他引:1
R M Anthony A H J Kolk S Kuijper P R Klatser 《The international journal of tuberculosis and lung disease》2006,10(9):1060-1062
We describe the simple adaptation of a standard fluorescent microscope for illumination using a 'Royal Blue' Luxeon light emitting diode (LED) and demonstrate that this form of illumination is suitable for the detection of auramine O stained Mycobacterium spp. The low cost, low power consumption, safety and reliability of LEDs makes them attractive alternatives to mercury vapour lamps. 相似文献
65.
Jeffrey Schatz Robert Buzan 《Journal of the International Neuropsychological Society》2006,12(1):24-33
We assessed midsagittal corpus callosum size in sickle cell disease (SCD) and its relationship to lesion volume, lesion location, and cognitive functioning. Twenty-eight children with SCD and 16 demographic controls completed magnetic resonance imaging (MRI) and neuropsychological testing. Corpus callosum (CC) size was smaller for children with silent infarcts (n = 8) or overt stroke (n = 8) than for those without visible infarcts (n = 12) or control participants. Lesion volume was a robust predictor of IQ and other cognitive scores; total CC size did not typically add explanatory power for these measures. The size of the rostral body of the CC, however, independently predicted measures of distractibility, speeded production, and working memory. Posterior CC size was also decreased among many of the children with SCD, even in the absence of visible infarcts in this region. Brain morphology appears to provide additional information about SCD-related effects on the brain above and beyond visible infarcts. 相似文献
66.
Sergue? O Fetissov Jarmila Hallman Ida Nilsson Ann-Kari Lefvert Lars Oreland Tomas H?kfelt 《Neuropsychopharmacology》2006,60(8):799-802
BACKGROUND: Altered stress response is characteristic for subjects with abnormal aggressive and antisocial behavior, but the underlying biological mechanisms are unclear. We hypothesized that autoantibodies (autoAbs) directed against several stress-related neurohormones may exist in aggressive subjects. METHODS: Using enzyme-linked immunosorbent assay, we studied whether autoAbs directed against corticotropin (ACTH), alpha-melanocyte-stimulating hormone (alpha-MSH), oxytocin, and vasopressin are present in serum of male subjects with conduct disorder and prisoners with history of violence. Healthy blood donors served as control subjects. RESULTS: Both conduct disorder and prisoners groups displayed strongly increased levels of ACTH-reactive immunoglobulin G (IgG) and immunoglobulin M (IgM) autoAbs compared with control subjects. Levels of oxytocin-reactive IgM autoAbs were slightly increased in both groups of aggressive subjects, whereas levels of vasopressin-reactive IgG and IgM autoAbs were lower only in conduct disorder. No differences in the levels of alpha-MSH-reactive autoAbs were found between aggressive and control subjects. CONCLUSIONS: High levels of ACTH-reactive autoAbs as well as altered levels of oxytocin- and vasopressin-reactive autoAbs found in aggressive subjects may interfere with the neuroendocrine mechanisms of stress and motivated behavior. Our data suggest a new biological mechanism of human aggressive behavior that involves autoAbs directed against several stress-related neurohormones. 相似文献
67.
AIM: The intention was to investigate cerebrospinal fluid pressure (CSFP) and volume of cerebrospinal fluid (CSF) drained during and after thoracic- and thoracoabdominal aneurysm repair. The findings were related to the occurrence of postoperative neurologic deficits. METHODS: Twenty-nine patients (12 with thoracic and 17 with thoracoabdominal aortic aneurysm) were operated without shunting or extracorporeal circulation. For monitoring of CSFP an intrathecal catheter was placed in all patients. The volume of CSF withdrawn intraoperatively, on the day of operation as well as on the 1st and 2nd postoperative day was recorded. RESULTS: Twenty-six patients had no postoperative neurologic sequelae. One patient had postoperative paraplegia while 2 had paraparesis. The three patients with neurologic sequelae had higher CSFP intraoperatively than those without neurologic symptoms (P=0.04). Median CSFP during aortic cross-clamping was 19 mmHg and 10 mmHg and the median volumes of CSF drained on the day of operation 210 and 85 mL in the two groups, respectively. There was a significant positive correlation between CSFP and central venous pressure. CONCLUSIONS: A higher intraoperative CSFP was observed in patients with neurologic sequelae following thoracic- and thoracoabdominal aneurysm repair. Further, there was a tendency of higher volumes of CSF drained in this group of patients. Although, the series is too small to allow firm conclusions, it supports the view that CSFP monitoring and drainage is beneficial during thoracic- and thoracoabdominal aneurysm repair. 相似文献
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