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排序方式: 共有241条查询结果,搜索用时 31 毫秒
111.
Ingeborg Barisic Ljubica Boban Maria Loane Ester Garne Diana Wellesley Elisa Calzolari Helen Dolk Marie-Claude Addor Jorieke EH Bergman Paula Braz Elizabeth S Draper Martin Haeusler Babak Khoshnood Kari Klungsoyr Anna Pierini Annette Queisser-Luft Judith Rankin Anke Rissmann Christine Verellen-Dumoulin 《European journal of human genetics : EJHG》2015,23(6):746-752
Meckel–Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11–36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies. 相似文献
112.
Overexpression of adenosine deaminase (ADA) in red blood cells is characterized by a marked, tissue-specific increase in levels of structurally normal ADA mRNA and enzymatic activity in the erythrocytes of affected individuals, leading to adenosine triphosphate (ATP) depletion and hemolytic anemia. This autosomal dominant trait is linked to the ADA gene. To investigate the molecular mechanism responsible for this disorder, we examined relative reporter gene activity using constructs containing 10.6 kb of 5' flanking sequence and 12.3 kb of the first intron of the ADA gene from the normal and mutant alleles. No differences in chloramphenicol acetyltransferase (CAT) activity were found in transient transfection experiments using erythroleukemia cell lines. Transgenic mice containing the ADA constructs expressed CAT in the appropriate tissue-specific fashion, with 10(2)- to 10(4)-fold higher activity in the thymus. However, CAT activities in erythrocytes and bone marrow of mice containing high transgene copy numbers did not differ between the normal and mutant alleles. These results indicate that the mutation responsible for ADA overexpression is unlikely to reside in the 5' and promoter regions or in the regulatory regions of the first intron. It is possible that the erythroid-specific overexpression of ADA results from a mutation at some distance from the gene or requires an interaction of a proximal mutation with more distal DNA elements. 相似文献
113.
Monoclonal antibody therapy in rheumatoid arthritis 总被引:1,自引:0,他引:1
Monoclonal antibodies bind to their targets with high specificity and
therefore have excellent potential as therapeutic agents. Biotechnological
advances have allowed the production of large quantities of engineered
monoclonal antibodies for therapeutic use. Recent research in rheumatoid
arthritis has identified important mediators of synovitis. Monoclonal
antibodies targeting these have been tested in clinical trials over the
last decade. Anti-cytokine therapies, in particular anti-tumour necrosis
factor alpha monoclonal antibodies, suppressed inflammation and produced
rapid symptomatic improvement. Anti-lymphocyte monoclonal antibodies
produced long- lasting disease suppression in animal models of rheumatoid
arthritis. The use of depleting anti-lymphocyte monoclonal antibodies in
rheumatoid arthritis had been disappointing as they did not penetrate the
synovial joint in sufficient quantity to suppress disease without producing
severe and protracted peripheral blood lymphopenia. Consequently, their use
in rheumatoid arthritis had been abandoned. In contrast, clinical trials of
non-depleting anti-CD4 monoclonal antibodies in rheumatoid arthritis showed
that they could suppress synovitis. However, it remains unclear whether
they could lead to prolonged disease improvement.
相似文献
114.
HJ Ng M Yule M Twoon NR Binnie EH Aly 《Annals of the Royal College of Surgeons of England》2015,97(2):151-156
Introduction
Emergency large bowel surgery (ELBS) is known to carry an increased risk of morbidity and mortality. Previous studies have reported morbidity and mortality rates up to 14.3%. However, there has not been a recent study to document the outcomes of ELBS following several major changes in surgical training and provision of emergency surgery. The aim of this study was therefore to explore the current outcomes of ELBS.Methods
A retrospective review was performed of a prospectively maintained database of the clinical records of all patients who had ELBS between 2006 and 2013. Data pertaining to patient demographics, ASA (American Society of Anesthesiologists) grade, diagnosis, surgical procedure performed, grade of operating surgeon and assistant, length of hospital stay, postoperative complications and in-hospital mortality were analysed.Results
A total of 202 patients underwent ELBS during the study period. The mean patient age was 62 years and the most common cause was colonic carcinoma (n=67, 33%). There were 32 patients (15.8%) who presented with obstruction and 64 (31.7%) had bowel perforation. The overall in-hospital mortality rate was 14.8% (n=30). A consultant surgeon was involved in 187 cases (92.6%) as either first operator, assistant or available in theatre.Conclusions
ELBS continues to carry a high risk despite several major changes in the provision of emergency surgery. Further developments are needed to improve postoperative outcomes in these patients. 相似文献115.
Aad Tibben Wybo Dondorp Candice Cornelis Nine Knoers Eva Brilstra Marieke van Summeren Ineke Bolt 《European journal of human genetics : EJHG》2021,29(6):911
In a previous study we found that parents of children with developmental delay (DD) favoured acceptance of unsolicited findings (UFs) for medically actionable conditions in childhood, but that preferences diverged for UFs with no medical actionability, or only in adulthood, and regarding carrier status. Sometimes the child’s future autonomy formed a reason for withholding UFs for the present, despite an unfavourable prognosis concerning the child’s cognitive capabilities. This might be different for children undergoing whole exome sequencing (WES) for reasons other than DD and who are expected to exert future autonomy. This is the focus of the current study. We conducted nine qualitative, semi-structured interviews with parents of children, ages <1–15, after consenting to WES, but prior to feedback of results, and with three adolescent children. Several parents wished to receive any information that might in whatever way be relevant to the health and well-being of their child, and to a lesser extent wished the inclusion of information about non-actionable disorders and information concerning carrier status of autosomal recessive disorders. Although parents understood the rationale behind the centre’s UFs disclosure policy, they also felt that they needed this information in order to be able to exert their parental responsibility and take good care of a child still dependent on them. Parents reason from their notion of parental responsibility but are also inclined to take adolescent children’s preferences seriously and acknowledge the child’s incipient autonomy as a ground for granting an increasing degree of self-determination on the road to adulthood.Subject terms: Medical ethics, Genetic counselling 相似文献
116.
117.
118.
Wenke Seifert Muriel Holder‐Espinasse Jirko Kühnisch Kimia Kahrizi Andreas Tzschach Masoud Garshasbi Hossein Najmabadi Andreas Walter Kuss Wolfram Kress Genevive Laureys Bart Loeys Eva Brilstra Grazia M.S. Mancini Hlne Dollfus Karin Dahan Kira Apse Hans Christian Hennies Denise Horn 《Human mutation》2009,30(2):E404-E420
119.
A small-aperture, prototype ultrasonic imaging system, typical of the size necessary to be embedded in a catheter, was developed to evaluate the feasibility of intravascular ultrasonic imaging catheters (UICs). The evaluation included in vitro imaging of postmortem samples of human femoral and iliac arteries with the UIC prototype and a high-resolution magnetic resonance (MR) proton imager. Excellent correlations between results from the UIC images, MR images, and tissue specimens were demonstrated. Although the current prototype is too large to be useful in examination of smaller vessels such as coronary arteries, the signal-to-noise ratio and resolution obtained indicate that imaging with intravascular UICs is feasible and may have significant diagnostic value. 相似文献
120.
Various doses of pentobarbital (1.25-20 mg) and lidocaine (2.5-20 mg) were injected selectively into the artery of Adamkiewicz and anterior spinal artery of 11 monkeys. Pentobarbital produced an acute paraplegia; lidocaine caused a transient paraplegia followed by hyper-reflexia and muscular fasciculation. Duration of effect varied from 5 to 60 minutes with both drugs and was dose related. Effects were totally reversible. The use of intraarterially administered barbiturates and lidocaine may be more sensitive than angiography for predicting cord blood supply during arteriography for spinal arteriovenous malformations or embolization of critical vessels, such as the right bronchial artery. 相似文献