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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.
4.
5.
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
6.
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
7.
AG Nettetal 《MedR Medizinrecht》2007,25(11):664-666
Abstrakt 1. Nimmt ein Patient einen ihm von seinem (Zahn-)Arzt einger?umten Exklusiv-Termin nicht wahr, obwohl er auf dessen Eigenschaft
ausdrücklich hingewiesen wurde, so hat er dem (Zahn-)Arzt den Behandlungsausfall abzüglich eines angemessenen Eigenanteils
des (Zahn-)Arztes zu ersetzen.
2. Die Ersatzpflicht tritt auch dann ein, wenn der Patient den Termin nicht in der in dem Behandlungsvertrag vorgesehenen
Frist absagt. Eine hierfür seitens des (Zahn-)Arztes bestimmte Frist von zwei Tagen vor Behandlungsbeginn stellt sich für
den Patienten grunds?tzlich auch nicht als unangemessene Benachteiligung i.S. des § 307 BGB dar.
3. Ein Anspruch des Arztes entf?llt auch bei nur mündlicher Vereinbarung nicht unter dem Gesichtspunkt des § 4 Abs. 5b BMV-Z,
denn diese Vorschrift ist teleologisch dahin zu reduzieren, dass nur zahn?rztliche Honoraransprüche aus erfolgten Behandlungen
schriftlich vereinbart werden müssen. Soweit es jedoch um einen vertraglichen Anspruch wegen einer Leistungsst?rung geht,
vermag das Schriftformerfordernis des § 4 Abs. 5b BMV-Z grunds?tzlich nicht einzugreifen. (Leits?tze des Bearbeiters) 相似文献
8.
9.
Early during rat thymus ontogeny, an important proportion of thymocytes
expresses IL-2R and contains IL-2 mRNA. To investigate the role of the
IL-2-IL-2R complex in rat T cell maturation, we supplied either recombinant
rat IL-2 or blocking anti-CD25 mAb to rat fetal thymus organ cultures
(FTOC) under several experimental conditions. The IL-2 treatment initially
stimulated the growth of thymocytes and, as a result, induced T cell
differentiation, but the continuous addition of IL-2 to rat FTOC, as well
as the anti-CD25 administration, resulted in cell number decrease and
inhibition of thymocyte maturation. These results indicate that immature
rat thymocytes bear functional high- affinity IL-2R and that IL-2 promotes
T cell differentiation as a consequence of its capacity to stimulate cell
proliferation. Modifications in TCR alpha beta repertoire and increased
numbers of NKR- P1+ cells, largely NK cells, were also observed in
IL-2-treated FTOC. Furthermore, IL-2-responsiveness of different thymocyte
subsets changed throughout thymic ontogeny. Immature CD4-CD8-cells
responded to IL-2 in two stages, early in thymus development and around
birth, in correlation with the maturation of two distinct waves of thymic
cell progenitors. Mature CD8+ thymocytes maximally responded to IL-2 around
birth, supporting a role for IL-2 in the increased proliferation of mature
thymocytes observed in vivo in the perinatal period. Taken together, these
findings support a role for IL-2 in rat T cell development.
相似文献
10.
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