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1.
Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10‐year follow‐up 下载免费PDF全文
Chiara Arrizza Andrea De Gottardi Ezio Foglia Matthias Baumgartner Matthias Gautschi Jean‐Marc Nuoffer 《Transplant international》2015,28(12):1447-1450
Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention. Here, we present the reversal of a severe cardiomyopathy after liver transplantation in a patient with propionic acidemia and the long‐term stability after ten years. Liver transplantation in patients with propionic acidemia may be considered a valid and long‐lasting treatment when cardiomyopathy is progressive and unresponsive to medical therapy. 相似文献
2.
Knowledge of and attitudes about blood-borne viruses and infection control in Brazilian dental practice 总被引:1,自引:0,他引:1
OBJECTIVE: To determine whether there were any recent changes in hepatitis B immunisation of dental staff, infection control or understanding of viral infections in Brazilian dentists.
DESIGN: A randomised survey was conducted on 740 dentists attending the National Dental Congress in Sao Paulo, Brazil in 1994.
SUBJECTS AND METHODS: The 740 dentists were questioned as to the presence of various viruses in saliva, the perceived risks of dental staff and long-term sequelae, the availability and uptake of vaccines, willingness to treat virus-infected persons, and means of infection control. Nearly 69% of respondents were female dentists, of mean age 30 years. Results were compared with a similar survey from 1990.
RESULTS: Most respondents knew that HIV and hepatitis viruses could appear in saliva and almost all knew of infective risks from hepatitis B (HBV), and the availability of the vaccine. Less than half knew of the association of HBV with liver cancer. There was a four-fold increase in those vaccinated against HBV since the low figure of 9% in 1990. Nearly two-thirds of respondents perceived an occupational risk to dental staff from HIV, and a similar proportion were also unwilling to treat virus-infected persons. A similar proportion also used chemical disinfection for some dental instruments.
CONCLUSIONS: The results show little improvement over a 4-year period except a much greater proportion of dentists were immunised against HBV. However, still only one third of dentists had been vaccinated, in a country with a high prevalence of infection in the general population. 相似文献
DESIGN: A randomised survey was conducted on 740 dentists attending the National Dental Congress in Sao Paulo, Brazil in 1994.
SUBJECTS AND METHODS: The 740 dentists were questioned as to the presence of various viruses in saliva, the perceived risks of dental staff and long-term sequelae, the availability and uptake of vaccines, willingness to treat virus-infected persons, and means of infection control. Nearly 69% of respondents were female dentists, of mean age 30 years. Results were compared with a similar survey from 1990.
RESULTS: Most respondents knew that HIV and hepatitis viruses could appear in saliva and almost all knew of infective risks from hepatitis B (HBV), and the availability of the vaccine. Less than half knew of the association of HBV with liver cancer. There was a four-fold increase in those vaccinated against HBV since the low figure of 9% in 1990. Nearly two-thirds of respondents perceived an occupational risk to dental staff from HIV, and a similar proportion were also unwilling to treat virus-infected persons. A similar proportion also used chemical disinfection for some dental instruments.
CONCLUSIONS: The results show little improvement over a 4-year period except a much greater proportion of dentists were immunised against HBV. However, still only one third of dentists had been vaccinated, in a country with a high prevalence of infection in the general population. 相似文献
3.
Korte W Jovic R Hollenstein M Degiacomi P Gautschi M Ferrández A 《Hamostaseologie》2010,30(4):212-216
The activated partial thromboplastin time test (aPTT) represents one of the most commonly used diagnostic tools in order to monitor patients undergoing heparin therapy. Expression of aPTT coagulation time in seconds represents common practice in order to evaluate the integrity of the coagulation cascade. The prolongation of the aPTT thus can indicate whether or not the heparin level is likely to be within therapeutic range. Unfortunately aPTT results are highly variable depending on patient properties, manufacturer, different reagents and instruments among others but most importantly aPTT's dose response curve to heparin often lacks linearity. Furthermore, aPTT assays are insensitive to drugs such as, for example, low molecular weight heparin (LMWH) and direct factor Xa (FXa) inhibitors among others. On the other hand, the protrombinase-induced clotting time assay (PiCT?) has been show to be a reliable functional assay sensitive to all heparinoids as well as direct thrombin inhibitors (DTIs). So far, the commercially available PiCT assay (Pefakit?PiCT?, DSM Nutritional Products Ltd. Branch Pentapharm, Basel, Switzerland) is designed to express results in terms of units with the help of specific calibrators, while aPTT results are most commonly expressed as coagulation time in seconds. In this report, we describe the results of a pilot study indicating that the Pefakit PiCT UC assay is superior to the aPTT for the efficient monitoring of patients undergoing UFH therapy; it is also suitable to determine and quantitate the effect of LMWH therapy. This indicates a distinct benefit when using this new approach over the use of aPPT for heparin monitoring. 相似文献
4.
Henning Burmeister Stefan Aebi Cristina Studer Martin F. Fey Oliver Gautschi 《Supportive care in cancer》2012,20(1):141-147
Background
We assessed adherence to the European Society of Medical Oncology (ESMO)/Multinational Association of Supportive Care in Cancer recommendations for prophylaxis of chemotherapy-induced nausea and vomiting (CINV) at our institution. 相似文献5.
Cell surface expression of the epithelial Na channel and a mutant
causing Liddle syndrome: A quantitative approach 下载免费PDF全文
Dmitri Firsov Laurent Schild Ivan Gautschi Anne-Marie Mrillat Estelle Schneeberger BernardC. Rossier 《Proceedings of the National Academy of Sciences of the United States of America》1996,93(26):15370-15375
The epithelial amiloride-sensitive sodium channel (ENaC) controls transepithelial Na+ movement in Na+-transporting epithelia and is associated with Liddle syndrome, an autosomal dominant form of salt-sensitive hypertension. Detailed analysis of ENaC channel properties and the functional consequences of mutations causing Liddle syndrome has been, so far, limited by lack of a method allowing specific and quantitative detection of cell-surface-expressed ENaC. We have developed a quantitative assay based on the binding of 125I-labeled M2 anti-FLAG monoclonal antibody (M2Ab*) directed against a FLAG reporter epitope introduced in the extracellular loop of each of the α, β, and γ ENaC subunits. Insertion of the FLAG epitope into ENaC sequences did not change its functional and pharmacological properties. The binding specificity and affinity (Kd = 3 nM) allowed us to correlate in individual Xenopus oocytes the macroscopic amiloride-sensitive sodium current (INa) with the number of ENaC wild-type and mutant subunits expressed at the cell surface. These experiments demonstrate that: (i) only heteromultimeric channels made of α, β, and γ ENaC subunits are maximally and efficiently expressed at the cell surface; (ii) the overall ENaC open probability is one order of magnitude lower than previously observed in single-channel recordings; (iii) the mutation causing Liddle syndrome (β R564stop) enhances channel activity by two mechanisms, i.e., by increasing ENaC cell surface expression and by changing channel open probability. This quantitative approach provides new insights on the molecular mechanisms underlying one form of salt-sensitive hypertension. 相似文献
6.
Persistent polyclonal B-cell lymphocytosis is an expansion of functional IgD(+)CD27(+) memory B cells 总被引:1,自引:0,他引:1
Himmelmann A Gautschi O Nawrath M Bolliger U Fehr J Stahel RA 《British journal of haematology》2001,114(2):400-405
Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare disorder of unknown aetiology affecting predominantly young to middle-aged women. It is characterized by a polyclonal expansion of B cells, including typical binucleated lymphocytes, and is associated with the presence of the translocation t(14;18), involving the bcl-2 oncogene. The stage of differentiation of the B cells expanded in PPBL is not known. We analysed the immunophenotype of the expanded B-cell subset in five new patients with PPBL and found a large uniform expansion of a recently defined human memory B-cell population, IgD(+)CD27(+) memory B cells. After in vitro stimulation with interleukin 2 (IL-2) and Staphylococcus aureus Cowan strain I, B cells from PPBL patients produced high levels of IgM immunoglobulins, which is a characteristic feature of IgD(+)CD27(+) memory B cells. Using a quantitative real-time polymerase chain reaction method, we found a high frequency of the translocation t(14;18) in the range of 1000-3000 per 106 B cells in PPBL patients. In contrast, a much smaller number of cells with a t(14;18) was found in B cells from healthy individuals. Our finding that PPBL is an accumulation of memory B cells further suggests that chronic antigeneic stimulation plays an important part in the pathogenesis of this disorder. This IgD(+)CD27(+) memory B-cell population might harbour a certain number of 'physiological' t(14;18) translocations that increases as this population expands in PPBL patients and constitutes the majority of peripheral blood lymphocytes. 相似文献
7.
Pirus Ghadjar Fiona C. Burkhard Oliver Gautschi George N. Thalmann Urs E. Studer 《BJU international》2011,107(6):894-897
Study Type – Therapy (case series) Level of Evidence 4 What’s known on the subject? and What does the study add? In resectable muscle‐invasive bladder cancer neoadjuvant chemotherapy followed by radical cystectomy confers to a significant 5% overall survival benefit. Less is known about induction chemotherapy followed by radical cystectomy in initially unresectable patients. Our retrospective analysis of a selected patient cohort suggests that patients with initially unresectable bladder cancer may benefit from this combined treatment approach.
OBJECTIVE
? To analyse the outcome in selected patients with initially unresectable or minimally metastatic muscle‐invasive urothelial bladder cancer who underwent induction chemotherapy (IC) followed by radical cystectomy (RC).PATIENTS AND METHODS
? Thirty patients with initially unresectable, locally advanced or minimally metastatic bladder cancer underwent platinum‐based IC followed by RC with curative intent at our institution from 2000 to 2007. ? They received a median of four cycles (range 2–6 cycles) of cisplatin and gemcitabine (n= 19), carboplatin and gemcitabine (n= 9) or other platinum combinations (n= 2). ? We retrospectively analysed all 30 patients for complete pathological remission (pT0), disease free survival (DFS) and overall survival (OS). Chi‐square tests, Kaplan–Meier analyses, and Cox univariate modelling were used.RESULTS
? Before IC, 30 patients were deemed unresectable because of locally advanced tumour classification (cT4, 18/30) and/or clinically suspected lymph node (LN) metastasis (21/30) or suspected distant metastasis (3/30). ? At re‐staging after IC there was a complete regression of all enlarged LN in 16/21 patients, a partial LN response in one patient or stable LN size in the remaining four patients. ? After RC, 9/30 (30%) of patients had attained pT0. ? The median follow‐up was 28 months (range 4–97 months). The 5‐year DFS and OS rates were 42% and 46%, respectively, for all patients. ? In the pT0 patients, the DFS (83%) and OS (71%) rates were significantly higher than in non‐pT0 patients.CONCLUSION
? Patients undergoing IC followed by RC showed encouraging response and survival rates, suggesting that selected patients with initially unresectable bladder cancer benefit from this combined regimen. 相似文献8.
Gautschi M Mun A Ross S Rospert S 《Proceedings of the National Academy of Sciences of the United States of America》2002,99(7):4209-4214
The chaperones RAC (ribosome-associated complex), consisting of Ssz1p and zuotin, and Ssb1/2p are associated with ribosomes of yeast. Ssb1/2p was previously shown to form a crosslink product to polypeptides trapped in ribosome-nascent chain complexes (RNCs) in vitro. Here we show that an efficient crosslink of the nascent chain to Ssb1/2p depends on the presence of functional RAC. The crosslink to Ssb1/2p was significantly diminished if (i) RAC was removed from RNCs: a process reversed by addition of purified RAC; (ii) RAC carried a mutation in the J-domain of zuotin, leading to its inactivation in vivo; (iii) RAC's Ssz1p subunit was absent because RNCs were generated in a Deltassz1-derived translation extract. In vivo the same specific set of growth defects caused by the absence of any of the three chaperones was also displayed by a Deltassb1/2Deltassz1Deltazuo1 strain. The combination of in vitro and in vivo data supports a model in which Ssb1/2p, Ssz1p, and zuotin act in concert on nascent chains while they are being synthesized. 相似文献
9.
Ramsfjell V; Borge OJ; Veiby OP; Cardier J; Murphy MJ Jr; Lyman SD; Lok S; Jacobsen SE 《Blood》1996,88(12):4481-4492
Thrombopoietin (Tpo), the ligand for c-mpl, has been shown to be the principal regulator of megakaryocytopoiesis and platelet production. The ability of Tpo to potently stimulate the growth of committed megakaryocyte (Mk) progenitor cells has been studied in detail. Murine fetal liver cells, highly enriched in primitive progenitors, have been shown to express c-mpl, but little is known about the ability of Tpo to stimulate the growth and differentiation of primitive multipotent bone marrow (BM) progenitor cells. Here, we show that Tpo alone and in combination with early acting cytokines can stimulate the growth and multilineage differentiation of Lin- Sca-1+ BM progenitor cells. In particular, Tpo potently synergized with the ligands for c-kit (stem cell factor [SCF]) and flt3 (FL) to stimulate an increase in the number and size of clones formed from Lin- Sca-1+ progenitors. When cells were plated at 1 cell per well, the synergistic effect of Tpo was observed both in fetal calf serum-supplemented and serum-depleted medium and was decreased if the addition of Tpo to cultures was delayed for as little as 24 hours, suggesting that Tpo is acting directly on the primitive progenitors. Tpo added to SCF + erythropoietin (Epo)-supplemented methylcellulose cultures potently enhanced the formation of multilineage colonies containing granulocytes, macrophages, erythrocytes, and Mks. SCF potently enhanced Tpo-stimulated production of high-ploidy Mks from Lin- Sca-1+ progenitors, whereas the increased growth response obtained when combining Tpo with FL did not translate into increased Mk production. The ability of Tpo and SCF to synergistically enhance the growth of Lin- Sca-1+ progenitors was predominantly observed in the more primitive rhodamine 123(lo) fraction. Tpo also enhanced growth of Lin- Sca-1+ progenitors when combined with interleukin-3 (IL-3) and IL-11 but not with IL-12, granulocyte colony-stimulating factor, granulocyte-macrophage colony- stimulating factor, or Epo. Epo, which has high homology to Tpo, was unable to stimulate the growth of Lin- Sca-1+ progenitors alone or in combination with SCF or FL, suggesting that c-mpl is expressed on more primitive stages of progenitors than the Epo receptor. Thus, the present studies show the potent ability of Tpo to enhance the growth of primitive multipotent murine BM progenitors in combination with multiple early acting cytokines and documents its unique ability to synergize with SCF to enhance Mk production from such progenitors. 相似文献
10.