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61.
CA Tan D. del Gaudio M.A. Dempsey K. Arndt S. Botes A. Reeder S. Das 《Clinical genetics》2014,85(4):353-358
Primary Autosomal Recessive Microcephaly (MCPH) is characterized by congenital microcephaly usually without additional clinical findings. The most common gene implicated in MCPH is ASPM and a large percentage of mutations described have been homozygous and in consanguineous families primarily of East Asian and Middle Eastern origin. ASPM sequencing was performed on 400 patients between the years 2009 and 2012. Seventy of the patient samples were also analyzed for copy number changes in the ASPM gene. Forty protein truncating mutations, including 29 novel mutations, were identified in 39 patients with MCPH. Approximately one third of patients were compound heterozygotes, indicative of non‐consanguinity in these patients. In addition, 46 non‐synonymous variants were identified and interpreted as variants of uncertain significance. No deletion/duplication in ASPM was identified in the patients analyzed. A wide ethnic distribution was observed, including the first reported patients with ASPM‐related MCPH of Hispanic descent. Clinical information was collected for 26 of the ASPM‐positive patients and 41 of the ASPM‐negative patients. As more individuals are identified with MCPH, we anticipate that we will continue to identify ASPM mutation‐positive patients from all ethnic origins supporting the occurrence of this genetic condition beyond that of consanguineous families of certain ethnic populations. 相似文献
62.
Christoph Bartenhagen Vera Okpanyi Michael Gombert Birte Moehlendick Bianca Behrens Hans‐Ulrich Klein Harald Rieder Pina Fanny Ida Krell Martin Dugas Nikolas Hendrik Stoecklein Arndt Borkhardt 《Human mutation》2014,35(10):1260-1270
Unbiased amplification of the whole‐genome amplification (WGA) of single cells is crucial to study cancer evolution and genetic heterogeneity, but is challenging due to the high complexity of the human genome. Here, we present a new workflow combining an efficient adapter‐linker PCR‐based WGA method with second‐generation sequencing. This approach allows comparison of single cells at base pair resolution. Amplification recovered up to 74% of the human genome. Copy‐number variants and loss of heterozygosity detected in single cell genomes showed concordance of up to 99% to pooled genomic DNA. Allele frequencies of mutations could be determined accurately due to an allele dropout rate of only 2%, clearly demonstrating the low bias of our PCR‐based WGA approach. Sequencing with paired‐end reads allowed genome‐wide analysis of structural variants. By direct comparison to other WGA methods, we further endorse its suitability to analyze genetic heterogeneity. 相似文献
63.
64.
Gregor F. Raschke Ulrich M. Rieger Rolf-Dieter Bader Oliver Schaefer Arndt Guentsch Stefan Schultze-Mosgau 《Clinical oral investigations》2013,17(3):933-942
Objectives
In the literature, there is an ongoing discussion about the influence of orbital fractures and the surgical approach on the rate of eyelid deformities of the lower eyelid.Materials and methods
We present an evaluation of a series of 221 patients 9 months after zygomaticomaxillary complex fracture repair that underwent implant removal. Reference anthropometric data were measured on standardized pre- and postoperative photographs. Analysis included eye fissure width and height, lid sulcus and upper lid height, upper and lower iris coverage, position of cornea to palpebra inferior, canthal tilt, scleral show, ectropion, and entropion. Both operated and contralateral eyelids were evaluated as well as whether a transconjunctival or a subciliary approach was performed.Results
Time, surgery, and surgical approach presented significant effects on eye fissure index and lower iris coverage. Scleral show was significantly influenced by the surgical procedure itself as well as by the type of incision. The rate of ectropion increased significantly pre- to postoperative.Conclusions
The subciliary approach included the highest risk of lower lid retraction. The low pre- to postoperative increase of scleral show and ectropion compared to recent studies gives us an idea about the influence of the underlying trauma on the rate of lower lid retraction. The standardized measurements described are accurately and objective to evaluate postoperative results.Clinical relevance
The transconjunctival approach is preferable in orbital fracture repair. 相似文献65.
Michael Stimmelmayr Jan-Frederik Güth Kurt Erdelt Arndt Happe Markus Schlee Florian Beuer 《Clinical oral investigations》2013,17(8):1929-1935
Objectives
Precise implant-supported prosthodontics requires accurate impressions. Many in vitro studies comparing different implant impression techniques were performed. The purpose of this in vivo study was to compare the discrepancy of two different impression techniques of implants clinically.Material and methods
Four implants were inserted nearly bilateral in ten edentulous jaws. From each jaw, two different impressions (A, transfer; B, splinted pick-up) were taken. Respectively two stone casts of each jaw were produced and scan bodies were mounted on the lab analogues to digitize the casts. One scan body of the digitized casts was each superimposed and the deviations of the remaining three scan bodies were measured three dimensionally. The fit of the suprareconstructions was evaluated clinically on both casts and in the mouth.Results
The mean discrepancy of scan body 2 was 192 μm (±96), 282 μm (±97) for scan body 3, and 366 μm (±114) for scan body 4. The discrepancies between two scan bodies were statistically significant (p?≤?0.010; ANOVA test). Comparing the data with the span between the scan bodies, a linear regression line could be drawn to show the dependency between the misfit and the length of the span. Clinically, the fit on the cast produced by the splinted pick-up technique was favorable.Conclusions
The discrepancy between the splinted pick-up impression technique and the transfer technique were in a range with clinical influence.Clinical relevance
For better accuracy of implant-supported prosthodontics, the splinted pick-up technique should be used for impressions of four implants evenly spread in edentulous jaws. 相似文献66.
67.
68.
Martin F. Sprinzl Arndt Weinmann Nikola Lohse Hanna Tönissen Sandra Koch Jörn Schattenberg Maria Hoppe‐Lotichius Tim Zimmermann Peter R. Galle Torsten Hansen Gerd Otto Marcus Schuchmann 《Transplant international》2013,26(1):67-74
The metabolic syndrome (MetS) might contribute to morbidity after orthotopic liver transplantation (OLT). For this reason, we searched for MetS‐associated risk factors and analyzed the link with nonalcoholic fatty liver disease (NAFLD) in OLT recipients. De novo MetS affected 32.9% of our cohort (n = 170) within 2 years after OLT. Multivariate analysis identified glycosylated hemoglobin (HbA1c) levels ≥5% [odds ratio (OR) = 3.5; 95% confidence interval (CI) = 1.56–8.13, P = 0.003], diabetes mellitus (OR = 4.31, CI = 1.69–10.99, P = 0.002), and arterial hypertension (OR = 4.59, CI = 1.46–14.49, P = 0.009) as independent risk factors for de novo MetS. MetS incidence correlated with steroid dosage after OLT (5.2 ± 2.4 mg/day vs. 7.1 ± 4.7 mg/day, P = 0.014), and was linked to NAFLD (P = 0.001) via obesity (OR = 4.67, CI = 1.55–14.1, P = 0.006) and dyslipidemia (OR = 4.23, CI = 1.35–13.3, P = 0.013) post‐OLT. In conclusion, we were able to identify low threshold HbA1c as a novel risk factor for MetS after OLT and described a link of MetS with NAFLD in transplant organs. This study also indicated that steroid treatment is associated with MetS rates after OLT. 相似文献
69.
Daniel S. Engeler Andrew P. Baranowski Paulo Dinis-Oliveira Suzy Elneil John Hughes Embert J. Messelink Arndt van Ophoven Amanda C. Williams 《European urology》2013
Context
Progress in the science of pain has led pain specialists to move away from an organ-centred understanding of pain located in the pelvis to an understanding based on the mechanism of pain and integrating, as far as possible, psychological, social, and sexual dimensions of the problem. This change is reflected in all areas, from taxonomy through treatment. However, deciding what is adequate investigation to rule out treatable disease before moving to this way of engaging with the patient experiencing pain is a complex process, informed by pain expertise as much as by organ-based medical knowledge.Objective
To summarise the evolving changes in the management of patients with chronic pelvic pain by referring to the 2012 version of the European Association of Urology (EAU) guidelines on chronic pelvic pain.Evidence acquisition
The working panel highlights some of the most important aspects of the management of patients with chronic pelvic pain emerging in recent years in the context of the EAU guidelines on chronic pelvic pain. The guidelines were completely updated in 2012 based on a systematic review of the literature from online databases from 1995 to 2011. According to this review, levels of evidence and grades of recommendation were added to the text. A full version of the guidelines is available at the EAU office or Web site (www.uroweb.org).Evidence synthesis
The previously mentioned issues are explored in this paper, which refers throughout to dilemmas for the physician and treatment team as well as to the need to inform and engage the patient in a collaborative empirical approach to pain relief and rehabilitation. These issues are exemplified in two case histories.Conclusions
Chronic pelvic pain persisting after appropriate treatment requires a different approach focussing on pain. This approach integrates the medical, psychosocial, and sexual elements of care to engage the patient in a collaborative journey towards self-management. 相似文献70.