排序方式: 共有168条查询结果,搜索用时 15 毫秒
91.
Balci S Yuksel Konuk B Atik F Oguz AK Ergun MA Baltaci V Kosyakova N Liehr T 《Genetic counseling (Geneva, Switzerland)》2010,21(3):317-324
13q deletion syndrome is characterized by mental and motor retardation, craniofacial dysmorphic facial appearance and various congenital malformations. In this article, we present a new case with 13q deletion syndrome phenotypically characterized by fish mouth, choanal atresia and severe mental and motor retardation. In order to determine the certain localization of deleted region high resolution multicolor-banding technique was performed and the karyotype determined as 46,XX,del(13)(q32q33.2). To come in future to a genotype-phenotype correlation, it is very important to delineate the deleted region in such cases in detail by cytogenetic/ molecular cytogenetic methods. 相似文献
92.
Oguz Kilickaya Christopher Schmickl Adil Ahmed Juan Pulido James Onigkeit Kianoush Kashani Ognjen Gajic Vitaly Herasevich Brian Pickering 《PloS one》2014,9(9)
Background
Traditional electronic medical record (EMR) interfaces mark laboratory tests as abnormal based on standard reference ranges derived from healthy, middle-aged adults. This yields many false positive alerts with subsequent alert-fatigue when applied to complex populations like hospitalized, critically ill patients. Novel EMR interfaces using adjusted reference ranges customized for specific patient populations may ameliorate this problem.Objective
To compare accuracy of abnormal laboratory value indicators in a novel vs traditional EMR interface.Methods
Laboratory data from intensive care unit (ICU) patients consecutively admitted during a two-day period were recorded. For each patient, available laboratory results and the problem list were sent to two mutually blinded critical care experts, who marked the values about which they would like to be alerted. All disagreements were resolved by an independent super-reviewer. Based on this gold standard, we calculated and compared the sensitivity, specificity, positive and negative predictive values (PPV, NPV) of customized vs traditional abnormal value indicators.Results
Thirty seven patients with a total of 1341 laboratory results were included. Experts’ agreement was fair (kappa = 0.39). Compared to the traditional EMR, custom abnormal laboratory value indicators had similar sensitivity (77% vs 85%, P = 0.22) and NPV (97.1% vs 98.6%, P = 0.06) but higher specificity (79% vs 61%, P<0.001) and PPV (28% vs 11%, P<0.001).Conclusions
Reference ranges for laboratory values customized for an ICU population decrease false positive alerts. Disagreement among clinicians about which laboratory values should be indicated as abnormal limits the development of customized reference ranges. 相似文献93.
94.
95.
RJ Lipinski P Hammond SK O'Leary-Moore JJ Ament SJ Pecevich Y Jiang F Budin SE Parnell M Suttie EA Godin JL Everson DB Dehart I Oguz HT Holloway MA Styner GA Johnson KK Sulik 《PloS one》2012,7(8):e43067
Prenatal ethanol exposure is the leading preventable cause of congenital mental disability. Whereas a diagnosis of fetal alcohol syndrome (FAS) requires identification of a specific pattern of craniofacial dysmorphology, most individuals with behavioral and neurological sequelae of heavy prenatal ethanol exposure do not exhibit these defining facial characteristics. Here, a novel integration of MRI and dense surface modeling-based shape analysis was applied to characterize concurrent face-brain phenotypes in C57Bl/6J fetuses exposed to ethanol on gestational day (GD)7 or GD8.5. The facial phenotype resulting from ethanol exposure depended upon stage of insult and was predictive of unique patterns of corresponding brain abnormalities. Ethanol exposure on GD7 produced a constellation of dysmorphic facial features characteristic of human FAS, including severe midfacial hypoplasia, shortening of the palpebral fissures, an elongated upper lip, and deficient philtrum. In contrast, ethanol exposure on GD8.5 caused mild midfacial hypoplasia and palpebral fissure shortening, a shortened upper lip, and a preserved philtrum. These distinct, stage-specific facial phenotypes were associated with unique volumetric and shape abnormalities of the septal region, pituitary, and olfactory bulbs. By demonstrating that early prenatal ethanol exposure can cause more than one temporally-specific pattern of defects, these findings illustrate the need for an expansion of current diagnostic criteria to better capture the full range of facial and brain dysmorphology in fetal alcohol spectrum disorders. 相似文献
96.
97.
Pekperdahci T Turkoz Y Ozan O Seker E 《Journal of applied biomaterials & functional materials》2012,10(2):e149-e156
Purpose: To compare the clinical success of a self-adhesive resin cement used in combination with different adhesive bonding systems with that of a conventional dual-cure resin cement. Methods: The study was performed with 136 freshly extracted molars embedded in acrylic resin blocks and 136 IPS e.max Press discs. Teeth and discs were randomly divided into four equal groups and cemented together using either RelyX ARC (ARC), RelyX Unicem (Unicem), RelyX Unicem+Adper-Prompt L-pop (L-pop), or RelyX and Unicem+Total-etch (Total-etch). Shear bond strength measurements were obtained before and after thermocycling. Following bond testing, the surfaces of one sample per subgroup (thermocycled and non-thermocycled), were assessed using scanning electron microscopy (SEM). Results: Among the non-thermocylced subgroups, ARC exhibited the highest bond strength values, followed by Total Etch, Unicem and L-pop. ARC also exhibited the highest bond strength values among the thermocycled subgroups, followed by Unicem, Total-etch, and L-pop. SEM analysis clearly revealed the negative effects of thermo-cycling on the mechanical properties of adhesive agents. Conclusions: RelyX Unicem may be preferable in many cases because of its simplified application and reduced technique-sensitivity. 相似文献
98.
99.
Derya Iren Akbiyik Vildan Sumbuloglu Oguz Erkan Berksun Vesile Senturk Stefan Priebe 《Culture, medicine and psychiatry》2009,33(3):412-420
Numerous studies have investigated the potential impact of migration on psychiatric morbidity levels. Relatively little research
has studied how the symptom profiles of patients with similar disorders and similar backgrounds are linked to the culture
in which they live. Such research requires comparisons of immigrant patient samples with samples of patient who remain in
their country of origin. In this study we compared symptoms in Turkish patients with depression living in Ankara, Turkey,
and Berlin, Germany. To understand symptoms of patients with depression, not only the culture of origin but also the cultural
context in which patients have been living needs to be considered as an important factor. The new culture can be associated
with distinct, and not necessarily more serious, symptom profiles. 相似文献