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排序方式: 共有343条查询结果,搜索用时 15 毫秒
1.
Pennings RJ Te Brinke H Weston MD Claassen A Orten DJ Weekamp H Van Aarem A Huygen PL Deutman AF Hoefsloot LH Cremers FP Cremers CW Kimberling WJ Kremer H 《Human mutation》2004,24(2):185
Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis of USH2A was performed in 70 Dutch USH2 families. Ten mutations in USH2A were detected, of which three are novel, c.949C>A, c.2242C>T (p.Gln748X) and c.4405C>T (p.Gln1468X). Including 9 previously published Dutch USH2a families, estimates of the prevalence of USH2a in the Dutch USH2 population were made. Mutations were identified in 62% of the families. In 28% both mutated alleles were identified, whereas in 34% the mutation in only one allele was found. It is estimated that about 28% of the Dutch USH2 families have a different causative gene. Analysis of deduced haplotypes suggests that c.1256G>T (p.Cys419Phe) is a Dutch ancestral mutation, occurring in 16% of the alleles. 相似文献
2.
Tony Wawina-Bokalanga Bert Vanmechelen Valentine Lhermitte Joan Martí-Carreras Valentijn Vergote Fara Raymond Koundouno Joseph Akoi-Bor Ruth Thom Tom Tipton Kimberley Steeds Kita Balla Moussa Ablam Amento Lies Laenen Sophie Duraffour Martin Gabriel Paula Ruibal Yper Hall Mandy Kader-Kond Stephan Günther Guy Baele Cesar Muoz-Fontela Johan Van Weyenbergh Miles W. Carroll Piet Maes 《Emerging infectious diseases》2021,27(1):76
We investigated the genetic profiles of killer cell immunoglobulin-like receptors (KIRs) in Ebola virus–infected patients. We studied the relationship between KIR–human leukocyte antigen (HLA) combinations and the clinical outcomes of patients with Ebola virus disease (EVD). We genotyped KIRs and HLA class I alleles using DNA from uninfected controls, EVD survivors, and persons who died of EVD. The activating 2DS4–003 and inhibitory 2DL5 genes were significantly more common among persons who died of EVD; 2DL2 was more common among survivors. We used logistic regression analysis and Bayesian modeling to identify 2DL2, 2DL5, 2DS4–003, HLA-B-Bw4-Thr, and HLA-B-Bw4-Ile as probably having a significant relationship with disease outcome. Our findings highlight the importance of innate immune response against Ebola virus and show the association between KIRs and the clinical outcome of EVD. 相似文献
3.
Lisanne E. de Koning Jessica Warnink-Kavelaars Marion A. van Rossum Diederik Bosman Leonie A. Menke Fransiska Malfait Rosa de Boer Jaap Oosterlaan Raoul H. H. Engelbert Lies Rombaut And the Pediatric Heritable Connective Tissue Disorders Study Group 《American journal of medical genetics. Part A》2023,191(7):1792-1803
The aim of the present study was to investigate the nature and prevalence of nonspecific somatic symptoms, pain and catastrophizing in children with Heritable Connective Tissue Disorders (HCTD), and to determine their association with disability. This observational, multicenter study included 127 children, aged 4–18 years, with Marfan syndrome (MFS) (59%), Loeys-Dietz syndrome (LDS) (8%), Ehlers-Danlos syndromes (EDS) (12%) and hypermobile Ehlers-Danlos syndrome (hEDS) (23%). The assessments included the Children's Somatization Inventory or parent proxy (CSI, PCSI), pain visual-analogue scale (VAS), SUPERKIDZ body diagram, Pain Catastrophizing Scale Child or parent proxy (PCS-C, PCS-P) and Childhood Health Assessment Questionnaire (CHAQ-30). Data from children aged ≥8 years were compared to normative data. In children ≥ 8 years (n = 90), pain was present in 59%, with a median of 4 (IQR = 3–9) pain areas. Compared to normative data, the HCTD group reported significantly higher on the CSI (p ≤ 0.001, d = 0.85), VAS pain intensity (p ≤ 0.001, d = 1.22) and CHAQ-30 (p ≤ 0.001, d = 1.16) and lower on the PCS-C (p = 0.017, d = −0.82) and PCS-P (p ≤ 0.001, d = −0.49). The intensity of nonspecific somatic symptoms and pain explained 45% of the variance in disability (r2 = 0.45 F(2,48) = 19.70, p ≤ 0.001). In children ≤ 7 years (n = 37), pain was present in 35% with a median of 5(IQR = 1–13) pain areas. The mean(SD) VAS scores for pain intensity was 1.5(2.9). Functional disability was moderately correlated to the number of pain areas (r = 0.56, p ≤ 0.001), intensity of nonspecific somatic symptoms (r = 0.63, p ≤ 0.001) and pain (r = 0.83, p ≤ 0.001). In conclusion, this study supports the need for comprehensive assessment of nonspecific somatic symptoms, pain, and disability in children with HCTD to allow tailored treatment. 相似文献
4.
S. Decker A. Lies I. Scheuer 《Langenbeck's archives of surgery / Deutsche Gesellschaft fur Chirurgie》1980,352(1):563-563
Zusammenfassung Von 1972–1979 wurden im Bergmannsheil Bochum 728 Malleolarfrakturen operativ behandelt. Zum Zeitpunkt der Metallentfernung (im Durchschnitt 6,8 Monate post op.) zeigten von 684 nachuntersuchten Patienten 534 (= 78%) ein gutes, 103 (=15%) ein befriedigendes und 47 (= 7%) ein unbefriedigendes funktionelles Ergebnis. Die Nachuntersuchung von 306 Patienten 3–8 Jahre post op. ergab in 235 (=77%) ein gutes, in 52 (= 17%) ein befriedigendes und in 19 Fällen (= 6%) ein unbefriedigendes Spätresultat. 相似文献
5.
Louis Nevejan Lize Cuypers Lies Laenen Liselotte Van Loo Franois Vermeulen Elke Wollants Ignace Van Hecke Stefanie Desmet Katrien Lagrou Piet Maes Emmanuel Andr 《Emerging infectious diseases》2022,28(8):1729
Illustrated by a clinical case supplemented by epidemiologic data, early reinfections with SARS-CoV-2 Omicron BA.1 after infection with Delta variant, and reinfection with Omicron BA.2 after Omicron BA.1 infection, can occur within 60 days, especially in young, unvaccinated persons. The case definition of reinfection, which influences retesting policies, should be reconsidered. 相似文献
6.
7.
Maxim Grymonprez Andreas Capiau Tine L. De Backer Stephane Steurbaut Koen Boussery Lies Lahousse 《Clinical cardiology》2021,44(5):599
Although obesity is associated with the development and progression of atrial fibrillation (AF), an obesity paradox may be present, illustrated by seemingly protective effects of obesity on AF‐related outcomes. Body mass index (BMI) has an impact on outcomes in AF patients using oral anticoagulants. After searching Medline and Embase, meta‐analysis of results of four randomized and five observational studies demonstrated significantly lower risks of stroke or systemic embolism (RR 0.80, 95%CI [0.73–0.87]; RR 0.63, 95%CI [0.57–0.70]; and RR 0.42, 95%CI [0.31–0.57], respectively) and all‐cause mortality (RR 0.73, 95%CI [0.64–0.83]; RR 0.61, 95%CI [0.52–0.71]; and RR 0.56, 95%CI [0.47–0.66], respectively) in overweight, obese and morbidly obese anticoagulated AF patients (BMI 25 to <30, ≥30 and ≥40 kg/m2, respectively) compared to normal BMI anticoagulated AF patients (BMI 18.5 to <25 kg/m2). In contrast, thromboembolic (RR 1.92, 95%CI [1.28–2.90]) and mortality (RR 3.57, 95%CI [2.50–5.11]) risks were significantly increased in underweight anticoagulated AF patients (BMI <18.5 kg/m2). In overweight and obese anticoagulated AF patients, the risks of major bleeding (RR 0.86, 95%CI [0.76–0.99]; and RR 0.88, 95%CI [0.79–0.98], respectively) and intracranial bleeding (RR 0.75, 95%CI [0.58–0.97]; and RR 0.57, 95%CI [0.40–0.80], respectively) were also significantly lower compared to normal BMI patients, while similar risks were observed in underweight and morbidly obese patients. This meta‐analysis demonstrated lower thromboembolic and mortality risks with increasing BMI. However, as this paradox was driven by results from randomized studies, while observational studies rendered more conflicting results, these seemingly protective effects should still be interpreted with caution. 相似文献
8.
Grymonprez Maxim De Backer Tine L. Steurbaut Stephane Boussery Koen Lahousse Lies 《Cardiovascular drugs and therapy / sponsored by the International Society of Cardiovascular Pharmacotherapy》2022,36(4):749-761
Cardiovascular Drugs and Therapy - Oral anticoagulants are crucial for preventing systemic thromboembolism in atrial fibrillation (AF), with guidelines preferring non-vitamin K antagonist oral... 相似文献
9.
Kornelia Neveling Ilse Feenstra Christian Gilissen Lies H. Hoefsloot Erik‐Jan Kamsteeg Arjen R. Mensenkamp Richard J. T. Rodenburg Helger G. Yntema Liesbeth Spruijt Sascha Vermeer Tuula Rinne Koen L. van Gassen Danielle Bodmer Dorien Lugtenberg Rick de Reuver Wendy Buijsman Ronny C. Derks Nienke Wieskamp Bert van den Heuvel Marjolijn J.L. Ligtenberg Hannie Kremer David A. Koolen Bart P.C. van de Warrenburg Frans P.M. Cremers Carlo L.M. Marcelis Jan A.M. Smeitink Saskia B. Wortmann Wendy A.G. van Zelst‐Stams Joris A. Veltman Han G. Brunner Hans Scheffer Marcel R. Nelen 《Human mutation》2013,34(12):1721-1726
The advent of massive parallel sequencing is rapidly changing the strategies employed for the genetic diagnosis and research of rare diseases that involve a large number of genes. So far it is not clear whether these approaches perform significantly better than conventional single gene testing as requested by clinicians. The current yield of this traditional diagnostic approach depends on a complex of factors that include gene‐specific phenotype traits, and the relative frequency of the involvement of specific genes. To gauge the impact of the paradigm shift that is occurring in molecular diagnostics, we assessed traditional Sanger‐based sequencing (in 2011) and exome sequencing followed by targeted bioinformatics analysis (in 2012) for five different conditions that are highly heterogeneous, and for which our center provides molecular diagnosis. We find that exome sequencing has a much higher diagnostic yield than Sanger sequencing for deafness, blindness, mitochondrial disease, and movement disorders. For microsatellite‐stable colorectal cancer, this was low under both strategies. Even if all genes that could have been ordered by physicians had been tested, the larger number of genes captured by the exome would still have led to a clearly superior diagnostic yield at a fraction of the cost. 相似文献