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181.
182.
Radan Bruha Zdenek Marecek Lenka Pospisilova Sona Nevsimalova Libor Vitek Pavel Martasek Jiri Nevoral Jaromir Petrtyl Petr Urbanek Alena Jiraskova Peter Ferenci 《Liver international》2011,31(1):83-91
Background and aims: Wilson disease (WD) is an inherited disorder of copper metabolism. When treated, the outcome can be excellent, although the long‐term survival has yet to be well documented. The aim of this study was to describe the long‐term outcome of a cohort of patients with WD and to assess those factors affecting the phenotypic manifestation of WD. Methods: The presence of mutations to the ATP7B gene, the clinical manifestations, treatments and the long‐term outcomes were analysed retrospectively in 117 patients with WD (59 men and 58 women, aged at evaluation 38.5 ± 11, range 16–63 years). Results: Fifty‐five patients with a neurological presentation, 51 patients with a hepatic presentation and 11 asymptomatic patients were followed up for an average of 15.1 ± 10 years (median 12 years, range 1–41 years). The H1069Q ATP7B gene mutation was the most frequent genetic variant (54.3%); the frequency of this mutation did not differ between patients with either the hepatic or the neurological presentation (P=0.099). d ‐penicillamine or zinc salts (81 and 17% respectively) were used for treatment, and three patients underwent liver transplantation. The majority of symptomatic patients became asymptomatic, or improved, during the follow‐up (82% patients with hepatic presentation, 69% with neurological presentation). The long‐term survival of patients with WD did not differ from that of the general Czech population (P=0.95). Conclusions: Long‐term follow‐up shows a satisfactory response in the great majority of adequately treated patients with WD and survival coincides with that of the general population. 相似文献
183.
Bar M Mikulik R Skoloudik D Czerny D Lipina R Sames M Choc M Novak Z Stary M Benes V Smrcka M Filip M Vondrackova D Chlouba V Suchomel P Haninec P Brzezny R Juran V 《Journal of neurology》2011,258(9):1689-1694
Decompressive surgery <48 h from stroke onset reduces the prevalence of mortality and morbidity from malignant supratentorial infarction. We investigated if utilization of decompressive surgery changed in the Czech Republic (CZ) after the release of new guidelines regarding treatment of malignant brain infarction. The volume of decompressive surgery in 2009 in all centers in the CZ was assessed using the same methodology as in 2006. All neurosurgery departments in the CZ were asked to complete a questionnaire and asked to identify all cases of decompressive surgery for malignant brain infarction through a combination of discharge codes for "brain infarction" and "decompressive surgery" from electronic hospital charts. Data for 56 patients were obtained from 15 of the 16 neurosurgery departments in the CZ. The average age was 53 ± 13; number of males 20; median time to surgery was 48 h (range 24-62); median NIHSS score was 25 (IQR, 20-30); median infarct volume was 300 cm(3) [interquartile (IQR, 250-350)]; mean shift on CT was 10.6 ± 3.6 mm and size of hemicraniectomy was 125 cm(2) (IQR, 110-154). A favorable outcome was achieved in 45% of the patients. The number of procedures increased from 39 in 2,006 to 2,056 in 2009. Based on data from one stroke center, 10% suffered from malignant supratentorial infarction and 2.3% met the criteria for decompressive surgery. In 2009, as compared to 2006, the volume of decompressive surgery carried out moderately increased. However, procedures remained underutilized because only ~10% of those who needed decompressive surgery underwent surgery. 相似文献
184.
185.
Kralickova M Sima R Vanecek T Sima P Rokyta Z Ulcova-Gallova Z Sucha R Uher P Hes O 《European journal of obstetrics, gynecology, and reproductive biology》2006,127(2):231-235
OBJECTIVE: Leukemia inhibitory factor (LIF) is one of the key cytokines in the embryo implantation regulation. We investigated the prevalence of the LIF gene mutations in the population of infertile women that consisted of nulligravid and secondary infertile patients. STUDY DESIGN: We designed a LIF gene mutation screening method that is based on the Temperature Gradient Gel Electrophoresis (TGGE). The population to screen consisted of 176 infertile women including group A of 147 nulligravid women and group B of 29 women with secondary infertility that had a history of either miscarriage or an ectopic pregnancy but no live births. The control population was comprised of 75 healthy fertile subjects. The groups of fertile controls and infertile patients were compared for statistically significant differences using the t-test. RESULTS: Six potentially functional LIF gene mutations, the G to A transitions at the position 3400 leading to the valin to methionin exchange at codon 64 (V64M) in the AB loop region of the LIF protein, were detected. All of the six positive women were infertile. Four of them were nulligravid and two of them had history of spontaneous conception followed by early miscarriage. No positive TGGE samples were identified in the control group, which means that the frequency of functionally relevant mutations of the LIF gene in infertile women is significantly enhanced in comparison with controls (P<0.05, t-test). CONCLUSION: The results suggest that the LIF gene mutations affect fertility. Even though they occur infrequently, their impact on molecular events during early phases of pregnancy should be further established. 相似文献
186.
Jaroslava Karbanova Zdenek Rusavy Lucie Betincova Magdalena Jansova Pavlina Necesalova Vladimir Kalis 《International journal of gynaecology and obstetrics》2014
Objective
To evaluate short-term perineal pain among primiparous women after mediolateral episiotomy (MLE) and lateral episiotomy (LE).Methods
The prospective randomized study was conducted in the Czech Republic during 2010–2012. Consecutive primiparous women who gave birth at or after 37 weeks of pregnancy and had indications for an episiotomy were enrolled and randomly assigned to undergo MLE or LE. Patients were unaware of the episiotomy type performed. The primary outcomes were pain at 24 hours, 72 hours, and 10 days post partum, measured by a visual analog scale, verbal rating scale, interference with activities of daily living, and amount of analgesic use.Results
The analysis included 266 women who underwent MLE and 297 women who underwent LE. Complete relief of pain was observed in 6 (2.3%) of 266 women after 24 hours, 21 (8.0%) of 264 after 72 hours, and 77 (29.1%) of 265 after 10 days in the MLE group, and in 11 (3.9%) of 285, 23 (7.7%) of 297, and 78 (26.4%) of 295 in the LE group, respectively (P = 0.36). There were no significant differences in overall pain scores from any rating system or in the amount of analgesics used.Conclusion
Incidence and extent of pain in the first 10 days after LE correspond to those after adequately performed MLE. 相似文献187.
Zdenek Rusavy Magdalena Jansova Vladimir Kalis 《International journal of gynaecology and obstetrics》2014
Objective
To conduct an international survey of anal incontinence assessment tools and the need to evaluate frequency of occurrence of fecal urgency.Methods
A questionnaire on the use of anal incontinence assessment tools was distributed between May and December 2012 among clinicians and researchers dealing with anal incontinence, primarily in North America, Europe, and Asia.Results
A total of 143 responses were collected from 56 (39.2%) obstetricians, gynecologists, and urogynecologists; 71 (49.7%) colorectal surgeons, proctologists, and general surgeons; and 16 (11.2%) physiotherapists, theoretical scientists, and gastroenterologists. Fourteen different tools were reported—most commonly Wexner score (n = 78; 48.8%) and St Mark’s score (n = 29; 18.1%). No scoring system was used by 24 (16.8%) respondents. Thirty-four (28.6%) used multiple tools. There was variation in the reasons given for scoring the frequency of fecal urgency as 4 points when using St Mark’s score. Of 96 respondents responding to a query about modifying the St Mark’s score, 88 (91.7%) agreed that fecal urgency should be scored according to the frequency of occurrence.Conclusion
Although the Wexner score neglects fecal urgency, it is the most commonly used scoring system. The study contributes to the standardization of terminology and reproducibility of results in research and clinical management of anal incontinence. 相似文献188.
189.
Tichý M Rucki M Hanzlíková I Roth Z 《Environmental toxicology and chemistry / SETAC》2008,27(11):2281-2286
A quantitative structure-activity relationship (QSAR) model dependent on log P(n - octanol/water), or log P(OW), was developed with acute toxicity index EC50, the median effective concentration measured as inhibition of movement of the oligochaeta Tubifex tubifex with 3 min exposure, EC50(Tt) (mol/L): log EC50(Tt) = -0.809 (+/-0.035) log P(OW) - 0.495 (+/-0.060), n=82, r=0.931, r2=0.867, residual standard deviation of the estimate 0.315. A learning series for the QSAR model with the oligochaete contained alkanols, alkenols, and alkynols; saturated and unsaturated aldehydes; aniline and chlorinated anilines; phenol and chlorinated phenols; and esters. Three cross-validation procedures proved the robustness and stability of QSAR models with respect to the chemical structure of compounds tested within a series of compounds used in the learning series. Predictive ability was described by q2 .801 (cross-validated r2; predicted variation estimated with cross-validation) in LSO (leave-a structurally series-out) cross-validation. 相似文献
190.