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161.
162.
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
163.
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
164.
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
165.
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
166.
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
167.
168.
169.
170.
S F Wong A Lee-Tannock D Amaraddio F Y Chan H D McIntyre 《Ultrasound in obstetrics & gynecology》2006,28(7):934-938
OBJECTIVE: To assess the effect of glucose control on the rate of growth of fetuses in women with pregestational diabetes mellitus (Types 1 and 2). METHODS: All pregestational diabetic women booked at Mater Mothers' Hospital, Brisbane, Australia, between 1 January 1994 and 31 December 2002, were included. Pregnancies with congenital fetal anomalies, multiple pregnancies, and pregnancies terminated prior to 20 weeks' gestation were excluded. Dating scans were performed before 14 weeks' gestation and serial scans were performed at 18, 24, 28, 32 and 36 weeks. Fetal parameters, including biparietal diameter, femur length and abdominal circumference, were recorded. The daily growth rates for biparietal diameter, femur length, and fetal abdominal area were calculated and compared with those in a low-risk (non-diabetic) population. The growth rates in fetuses of women with satisfactory diabetic control (HbA1c < 6.5%) and unsatisfactory control (HbA1c > or = 6.5%) in the three trimesters were compared. RESULTS: A total of 174 diabetic pregnancies were included and a total of 997 ultrasound scans were performed. The growth rates for fetuses of mothers with diabetes mellitus were significantly higher than for those in the low-risk population. The z-scores for biparietal diameter, femur length, and fetal abdominal area were 0.18, 0.59 and 1.44, respectively. Fetuses of diabetic mothers with high HbA1c in the first trimester had significantly greater fetal abdominal area growth rate than those with normal HbA1c (fetal abdominal area z-score of 1.7 vs. 0.75, P = 0.009). Although the fetal abdominal area z-scores in fetuses of diabetic mothers with high HbA1c in the second or third trimesters were also higher than those with normal HbA1c levels, the differences did not reach statistical significance. Maternal obesity did not influence the fetal growth rate. CONCLUSION: The rate of growth of fetuses of diabetic mothers differs from that of the normal population. Growth acceleration persists until the late third trimester. Moreover, periconceptional glucose control appears to have a significant effect on accelerated growth of the fetal abdominal area. 相似文献