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991.
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy 下载免费PDF全文
My Linh Thibodeau Colin H. Peters Katelin N. Townsend Yaoqing Shen Glenda Hendson Shelin Adam Kathryn Selby Patrick M. Macleod Cynthia Gershome Peter Ruben Steven J. M. Jones the FORGE Canada Consortium Jan M. Friedman William T. Gibson Gabriella A. Horvath 《American journal of medical genetics. Part A》2017,173(11):3087-3092
992.
Peters C Becker S Noack U Pfitzner S Bülow W Barz K Ahlf W Berghahn R 《Ecotoxicology (London, England)》2002,11(5):379-383
There is a need for establishing a marine bioassay test set to assess marine water and sediment samples in Germany. The selected marine bioassay test set, two tests for the water phase (with the luminescence bacteria Vibrio fischeri and the algae Phaeodactylum tricornutum Bohlin) and a whole sediment test with the marine amphipod Corophium volutator (Pallas) is described and first results are shown. 相似文献
993.
The purpose of this study was to examine the reliability and validity of the Community Health Intensity Rating Scale (CHIRS) that was translated into the Turkish language and applied in the Turkish community. The CHIRS is a tool that assesses the intensity of need for care of persons/families in the community. The original version of the tool was translated into Turkish, examined for face validity and language appropriateness by the Turkish experts, and then applied to 372 families living in Odemis, Turkey. Significant correlations were found between total scale score (TSS) and total number of household members, and between the TSS and the total number of visits to any health institution within the previous month. In addition, the self-health care needs evaluation scores supported predictive validity. For reliability, min-max values, standard errors and deviations, skewness, and kurtosis coefficients of parameter scores, domain scores, and TSS were examined. The mean TSS was 26.7 (+/- 5.32) and the mean age of the participants was 35.0 years. For internal consistency, Cronbach's alpha (.525) and Guttman split-half coefficient (.629) values were established for the TSS. In conclusion, the reliability and validity of the Turkish version of CHIRS have been established. 相似文献
994.
Objective : To determine antibody levels to the Australian manufactured combined diphtheria, tetanus and pertussis (DTP) vaccine (Triple Antigen, CSL Ltd) in infante before and after their primary immunization course.
Methodology : Serosurvey (antibody prevalence study) in two groups: infants aged 5-9 weeks who had not received any immunizations ( n = 25), and infants aged 7-10 months who had received two ( n = 25) or three immunizations ( n = 57) with DTP, sampled from infants attending the Royal Children's Hospital, Melbourne, either as inpatients or outpatients between February and April 1993. The immunization history for each infant was determined from hospital records, the parent-held child health record, or the local council or family doctor who immunized the infant.
Results : Enzyme immunoassay (EIA) of antibodies to diphtheria and tetanus showed all infants to have adequate protective levels after two or three vaccinations (£0.01 IU/mL). All subjects who had received all three DTP vaccinations had detectable antibody to at least one pertussis antigen. Antibodies to the pertussis antigens filamentous haemagglutinin and pertussigen (pertussis toxin) were comparable to levels determined for whole cell pertussis vaccines used elsewhere in the world. EIA-determined antibodies to pertussis agglutinogen type 2 and agglutinogen type 3 showed substantially higher geometric mean titres when results for pre-immunization and post-immunization subjects were compared.
Conclusions : These data show that the Australian manufactured DTP vaccine has immunogenic properties similar to those of vaccines used elsewhere, and that antibody concentrations following immunization are at levels consistent with efficacy. 相似文献
Methodology : Serosurvey (antibody prevalence study) in two groups: infants aged 5-9 weeks who had not received any immunizations ( n = 25), and infants aged 7-10 months who had received two ( n = 25) or three immunizations ( n = 57) with DTP, sampled from infants attending the Royal Children's Hospital, Melbourne, either as inpatients or outpatients between February and April 1993. The immunization history for each infant was determined from hospital records, the parent-held child health record, or the local council or family doctor who immunized the infant.
Results : Enzyme immunoassay (EIA) of antibodies to diphtheria and tetanus showed all infants to have adequate protective levels after two or three vaccinations (£0.01 IU/mL). All subjects who had received all three DTP vaccinations had detectable antibody to at least one pertussis antigen. Antibodies to the pertussis antigens filamentous haemagglutinin and pertussigen (pertussis toxin) were comparable to levels determined for whole cell pertussis vaccines used elsewhere in the world. EIA-determined antibodies to pertussis agglutinogen type 2 and agglutinogen type 3 showed substantially higher geometric mean titres when results for pre-immunization and post-immunization subjects were compared.
Conclusions : These data show that the Australian manufactured DTP vaccine has immunogenic properties similar to those of vaccines used elsewhere, and that antibody concentrations following immunization are at levels consistent with efficacy. 相似文献
995.
L. M. Millward P. Kelly A. Deacon V. Senior T. J. Peters 《Journal of inherited metabolic disease》2001,24(7):733-747
A battery of self-report psychosocial measures was mailed to 116 patients who had been referred for clinical management (clinic attenders) or laboratory diagnosis (non-clinic attenders) to the London Supraregional Assay Service Centre for Porphyria over the past decade and who tested positive for porphyria. Usable replies were received from 81 (70%) patients. Our interest focused on the prevalence of psychosocial symptoms in acute porphyrias and the perceived effects of porphyria on quality of life and patient experience. Research questions examined included (i), lifestyle factors; (ii) life events; (iii) mental health; (iv) general health; and (v) perceptions of illness of patients receiving specialist clinical management compared to respondents referred for diagnostic investigations, between patients with latent or manifest symptomology and between patients with different types of porphyria.Patients with porphyria have an impaired quality of life, particularly manifest cases, compared to controls and to diabetic patients. Depression, and particularly anxiety, is more common than in the general population or general medical outpatient attenders. Quality of life is lower in acute intermittent porphyria (AIP) than in other forms of porphyria and a significant number of patients had major life event consequences, e.g. failure to secure, or loss of, employment, limitation of family size. Patients attending a clinic providing specialist porphyria advice, management and counselling received some perceived lifestyle benefits. 相似文献
996.
Zusammenfassung Mit Hilfe von Gruppensynergismus-Diagrammen habenSharp und Mitarbeiter drei aggregationsbedingte Pockenvirus-Aktivierungsphänomene demonstriert: anomale Plaquebildung durch Kaninchenpockenvirus, MultiplizitätsAktivierung von Vacciniavirus und Multiplizitäts-Reaktivierung an vorher partiell inaktivierten Viruspopulationen.Die Basis sämtlicher Gruppensynergismus-Diagramme bildet die von den Autoren als allgemeingültig angenommene Proportionalität der Plaquetiter zu den Mengen kinetisch autonomer oder aktiver Viruseinheiten. Anhand eines einfachen Modelles einer aggregierenden Viruspopulation wird nachgewiesen, daß diese Annahme unhaltbar ist und zu der unrichtigen Interpretation führen muß, niedrig aktive Viruspopulationen würden durch Teilchenaggregierung Steigerungen ihrer biologischen Aktivität erfahren.Die Ursachen der Fehlschlüsse werden untersucht und durch Beispiele erläutert.
Concerning aggregation dependent activations of poxvirusesI. Erroneous conclusions deduced from group synergism diagrams
Summary With the aid of group synergism diagramsSharp and coworkers have demonstrated three activation phenomena of pox viruses, depending on particle aggregation: anomalous plaque production of rabbitpox virus, multiplicity activation of vaccinia virus and multiplicity reactivation of partially inactivated viruses.The authors' basis for all group synergism diagrams is supposed proportionality between the number of plaques and kinetically autonomous or active virus units. Certain shortcomings inherent in this concept can be shown by using a simple model of an aggregating virus population. It can further be shown that this hypothesis leads to the misinterpretation that an increase in virus activity were caused by particle aggregation.The sources of the errors are investigated and are illustrated by examples.相似文献
997.
Raijmakers MT Roes EM Poston L Steegers EA Peters WH 《European journal of obstetrics, gynecology, and reproductive biology》2008,138(1):39-44
OBJECTIVES: Glutathione, an intracellular tripeptide, functions in the protection of cells against free radicals and toxins of endogenous and exogenous origin. To maintain the intracellular redox status in presence of reactive oxygen species, glutathione (GSH) and other thiols are oxidized. The oxidative status of thiols is reflected by the free-to-oxidized ratio and is a real-time measure for oxidative stress. Previously, we have reported abnormal ratios for the thiols cysteine (Cys), homocysteine (Hcy) and cysteinylglycine (CysGly) in women with pre-eclampsia. The aims of this study were to confirm our previous findings in a different case-control cohort and more importantly to determine whether these differences persist postpartum. STUDY DESIGN: At onset of disease and at 6-8 weeks postpartum we analyzed whole blood of 41 women with pre-eclampsia and of 31 women with normotensive pregnancies for the free-to-oxidized ratio of thiols by the assessment of free and oxidized thiol levels using high performance liquid chromatography. Differences between values were determined using either the paired t-test (antepartum versus postpartum) or the t-test (pre-eclampsia versus normotensive pregnancy). RESULTS: Antepartum levels of free GSH as well as the free-to-oxidized ratios of Hcy were lower in pre-eclampsia and normotensive pregnancy when compared with corresponding postpartum values (P<0.0001 and P<0.01, respectively). Moreover, the free-to-oxidized ratio for Hcy was significantly lowered in pre-eclamptic compared with normotensive women, during as well as after pregnancy (both P< or =0.01). CONCLUSION: The data suggest that pregnancy is a state of higher oxidative stress when compared to the postpartum period. In women with pre-eclampsia, oxidative stress is higher and persists in the postpartum period. 相似文献
998.
A prospective trial of lansoprazole triple therapy for pediatric Helicobacter pylori infection 总被引:3,自引:0,他引:3
Shashidhar H Peters J Lin CH Rabah R Thomas R Tolia V 《Journal of pediatric gastroenterology and nutrition》2000,30(3):276-282
BACKGROUND: Triple therapy with a proton-pump inhibitor and two antibiotics is widely used in the treatment of Helicobacter pylori infection in adults. Experience with such therapy in the pediatric population is limited. This was a prospective, nonrandomized, open-label trial to evaluate safety and efficacy of a combination of lansoprazole, clarithromycin, and amoxicillin in symptomatic children with H. pylori infection. METHODS: Children with H. pylori gastritis diagnosed by endoscopy performed for persistent nausea, vomiting, recurrent abdominal pain, and diarrhea with consistent histology were treated with the regimen of 0.45 mg/kg per day lansoprazole divided into two doses (maximum dose, 15 mg twice daily), amoxicillin 40 mg/kg per day in two doses (maximum dose, 1.0 g twice daily), and 250 mg clarithromycin twice daily (<10 years old) or 500 mg twice daily (>10 years old) for 2 weeks. Pre- and posttreatment endoscopic biopsy specimens were graded for the severity of gastritis and H. pylori density by a blinded pathologist. A questionnaire for assessing the severity of symptoms at the time of initial and second endoscopy were completed by patient and/or parent. RESULTS: Thirty-two children (age range, 1-25 years; mean age, 11 years; 19 females, 13 males) were treated with this regimen during an 18-month period. H. pylori organisms with varying grades of gastritis were present in tissue specimens of all patients. Only 28 children had follow-up endoscopy, which showed eradication of H. pylori in 15 (54%) children. Histologic symptoms of gastritis improved after therapy in the whole group. Overall, symptoms of vomiting, abdominal pain, diarrhea, anorexia, and halitosis significantly improved (P < 0.05). Minor adverse effects of therapy occurred in 25% of patients. CONCLUSIONS: Symptoms, histologic, and endoscopic findings improved after triple therapy in children with H. pylori gastritis; however, eradication of bacteria was achieved in only 56% of children. 相似文献
999.
Matthias Thielmann Eva Kottenberg Kerstin Boengler Christoph Raffelsieper Markus Neuhaeuser Jürgen Peters Heinz Jakob Gerd Heusch 《Basic research in cardiology》2010,105(5):657-664
Remote ischemic preconditioning (RIPC) with transient upper limb ischemia reduces myocardial injury in patients undergoing on-pump coronary artery bypass grafting (CABG) with cross-clamp fibrillation or blood cardioplegia for myocardial protection. Whether or not such protection is still operative when standard crystalloid cardioplegic arrest is used is uncertain. Fifty-three consecutive, non-diabetic patients with triple-vessel disease and 64 ± 12 years of age (mean ± SD), who underwent elective CABG surgery with crystalloid (Bretschneider) cardioplegic arrest, were allocated in a prospective, randomized, single-blinded protocol to receive either a RIPC protocol (3 cycles of 5 min transient left upper arm ischemia induced by inflating a blood pressure cuff to 200 mmHg with 5 min of reperfusion) or control, respectively, after induction of anesthesia. Cardiac troponin I (cTnI) concentration was measured preoperatively and over 72 h postoperatively, and the area under the curve (AUC) was calculated. Peak postoperative cTnI concentration was significantly reduced from 13.7 ± 7.7 ng/mL in controls to 8.9 ± 4.4 ng/mL in RIPC (P = 0.008). Mean cTnI concentration was significantly lower at 6, 12, 24, and 48 h after surgery (ANOVA; P < 0.0001) in the RIPC patients (N = 27) than in controls (N = 26), resulting in a 44.5% reduction of cTnI (AUC at 72 h). RIPC by repetitive inflation of a cuff around the left upper arm before surgery enhances myocardial protection in patients undergoing CABG surgery with antegrade cold crystalloid cardioplegia. 相似文献
1000.