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1.
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
2.
Palat Balachandran M.S. M.Ch. Shaleen Agarwal M.S. M.Ch. Narendra Krishnani M.D. Chandra M. Pandey Ph.D. Ashok Kumar M.S. M.Ch. Sadiq S. Sikora M.S. Rajan Saxena M.S. Vinay K. Kapoor M.S. 《Journal of gastrointestinal surgery》2006,10(6):848-854
The aim of this study was to examine the predictors of long-term survival (>24 months) in patients with gall bladder cancer.
A retrospective review of 117 cases of gall bladder cancer resected between 1989 and 2000. The resections included 80 simple
cholecystectomies and 37 extended procedures. Patients with survival >24 months (n=44) were compared with those having survival
<24 months (n=73) for 17 prognostic factors. Overall median survival was 16 months with a 5-year survival of 27%. T status
(P=.000) and adjuvant chemoradiotherapy (P=.001) were independent predictors of long-term survival. Survival advantage was
seen in T3N+ve disease (P=.007) with extended procedures. Complete (R0) resection was attained in 30 patients with a 5-year
survival advantage of 30% as compared with incomplete (R1) resection (P=.0002). Adjuvant chemoradiotherapy improved survival
in simple cholecystectomy group (P=.0008) but no advantage was seen after extended procedures. Stage III (P=.001) and node-positive
disease (P=.0005) had significant benefit with adjuvant therapy. Poor differentiation and vascular invasion were associated
with poor long-term survival. R0 resection was associated with prolonged survival. Extended procedures improved survival in
patients with T3N+ve disease. Addition of chemoradiotherapy made significant improvement in long-term survival in stage III
and node-positive lesions and in patients undergoing simple cholecystectomy. R0 resection predicted long-term survival in
gall bladder cancer. T3 N+ve disease had better survival after extended procedures. Adjuvant chemoradiotherapy improved survival
in stage III and node-positive disease. Poor differentiation and vascular invasion were adverse predictors of survival. 相似文献
3.
Wasif Ali Deepak K. Agarwal Sadiq S. Sikora Bhagwant R. Mittal Narendra Krishnani Md. Ibrarullah Ramesh K. Gupta Satyendra P. Kaushik 《Surgery today》1997,27(3):247-250
Duodenogastric reflux (DGR) has been implicated in several disease processes. The present study was carried out to document the incidence and evaluate the clinical significance of DGR after choledochoduodenostomy (CDD). A total of 13 patients who had undergone cholecystectomy with a standard side-to-side CDD for choledocholithiasis or chronic pancreatitis were studied by symptom evaluation, scintigraphy, endoscopy, and gastric mucosal histology at least 6 months after surgery. The scintigraphic findings were then compared with those of 10 patients who had undergone cholecystectomy alone. Only two patients (15%) had mild dyspeptic symptoms. The incidence of DGR after CDD was 69% compared to 20% in the cholecystectomy alone group (P < 0.05). In the majority of patients the DGR was only mild to moderate and the severity correlated well with the degree of endoscopic gastritis, but not with the clinical symptoms or histological findings. These results indicate that while CDD is associated with a high incidence of DGR, its occurrence does not produce significant clinical symptoms. 相似文献
4.
R. Kapoor R. Pradeep S. S. Sikora R. Saxena V. K. Kapoor S. P. Kaushik 《ANZ journal of surgery》1994,64(9):599-603
One hundred and ten patients with common bile duct (CBD) stones were treated in the Department of Surgical Gastroenterology at SGPGIMS, Lucknow, India between January 1989 and December 1992. The primary modality of treatment was surgery in 62 patients (group I) and endoscopic sphincterotomy (ES) in 48 (group II). The two groups were well matched with respect to clinical features and presence of medical risk factors. Surgical clearance of CBD stones was achieved in 58 patients (93.5%; group Ia). Four patients (7%) had retained stones following surgery (group Ib). In group II, the CBD was cleared by endoscopic means in 20 out of 48 patients (42%) and was categorized into group IIa. In the remaining patients ES was followed by CBD exploration (group IIb). Significantly higher morbidity was seen in patients needing CBD surgery following attempted endoscopic clearance, because of ES-related complications, such as bleeding, cholangitis, septicaemia and numerous others. Use of ES to treat CBD stones on a routine basis was therefore not found to be any better than one-time surgical exploration. 相似文献
5.
Michalik J Skotarczak B Skoracki M Wodecka B Sikora B Hofman T Rymaszewska A Sawczuk M 《Journal of medical entomology》2005,42(5):850-856
Wild rodents and the subadult Ixodes ricinus (L.) ticks infesting them were examined for the presence of Borrelia burgdorferi Johnson, Schmid, Hyde, Steigerwalt & Brenner s.l. in a sylvatic habitat in west central Poland during May-September 2002. In total, 818 feeding ticks were recovered from 73 infested yellow-necked mice, Apodemus flavicollis Melchior; in addition, bank voles, Clethrionomys glareolus Schreber, were rarely captured and proved to be weakly parasitized. Only 2.7% of A. flavicollis and 2.2% of 320 engorging larvae were polymerase chain reaction (PCR) positive for the bacterium. All spirochete-PCR-positive samples yielded exclusively B. burgdorferi s.s. This genospecies was also the most prevalent in questing nymphs and accounted for 87.5% of the total number of Borrelia infections in nymphal ticks collected during May and June 2 yr later. The presence of the same genospecies both in naturally engorged larvae and blood-positive animals as well as the high predominance of B. burgdorferi s.s. in questing nymphs strongly differs from most study sites investigated in Europe. This unique pattern of Borrelia-diversity in both rodents and ticks seems to be determined by highly site-specific host vertebrate cenosis, and yellow-necked mice are involved in the maintenance of B. burgdorferi s.s. in the forest habitat. However, the transmission efficiency of this spirochete from the mice to the I. ricinus vector seems to be very low. The research provides additional information on the complexity of B. burgdorferi s.l. ecology in Europe, pointing to the importance of the local host community. 相似文献
6.
7.
M Go?ebiowska I Ligenza I Kobierska E Zielińska J Wlaz?owski P Sikora K Ha?adaj 《Ginekologia polska》1992,63(5):221-226
1110 neonates, from 30 to 42 of estimated gestational age (EGA) were measured on the 1st day of life to estimate upper mid-arm circumference (MAC) and head circumference (HC). Individual MAC/HC ratio was calculated. MAC/HC ratio was used to estimate gestational age and nutritional status of the newborns. We proved that MAC/HC ratio increased linearly between 30 and 38 week of pregnancy and it stabilized between 38-42 week. We compared MAC/HC ratio with birth weight, skin fold score, and ponderal index. We concluded that this ratio may be very useful to estimate gestational age and to include the neonates to "the group of risk". 相似文献
8.
An experiment was designed to determine if the installation of a pharmacy computer produced a significant change in the distribution of routine inpatient dispensing activities for pharmacy personnel. Data were obtained using time lapse motion picture photography and work sampling procedures. Cameras were placed in three different locations for 6 days over a 2-week period before and after installation of the computer. A sample of approximately 2000 observations was reduced to machine readable format and analyzed using nonparametric statistical procedures. Results indicated a shift in work patterns of pharmacy personnel. It was concluded that the installation of a pharmacy computer had a significant effect on the distribution of routine inpatient dispensing activities. Pharmacy management should consider this information in anticipating efficient use of personnel and proper placement of computer hardware. 相似文献
9.
S S Sikora P Balachandran K Dimri N Rastogi A Kumar R Saxena V K Kapoor 《European journal of surgical oncology》2005,31(2):158-163
PURPOSE: Patterns of failure following surgical treatment of ampullary cancers indicate that up to 45% of patients develop loco-regional recurrence. The effect of adjuvant chemo-radiotherapy on survival and loco-regional control is not yet established in this malignancy. PATIENTS AND METHODS: From January 1989 to December 2000, 113 patients underwent pancreatico-duodenectomy for ampullary cancer. One hundred and four patients who survived the operation were available for analysis to study the effect of adjuvant chemo-radiotherapy on survival and loco-regional control. Forty-nine patients received adjuvant chemo-radiotherapy (median dose 50.4 Gy with concurrent 5-Flurouracil) and long-term outcome in these patients was compared with those 55 who did not receive adjuvant therapy. RESULTS: The overall median survival was 30.1 (range 1.6-140.0) months with actuarial 1, 3 and 5-year survival rates of 79, 43 and 33%, respectively. No significant difference in median survival (34.6 vs 24.5 months; P=0.3) and actuarial 5-year survival rates (38 vs 28%) was seen between those who received and those who did not receive adjuvant therapy. Adjuvant chemo-radiotherapy did not influence the survival in high-risk patients (P=0.84), in various T and N stages and had no impact on loco-regional recurrence (P=0.6). CONCLUSIONS: Adjuvant chemo-radiotherapy did not improve the long-term survival or decrease recurrence rates in patients with ampullary cancers who had undergone pancreatico-duodenectomy. 相似文献
10.