Array-CGH detection of a de novo 0.8 Mb deletion in 19q13.32 associated with mental retardation,cardiac malformation,cleft lip and palate,hearing loss and multiple dysmorphic features

We report on a 28-year old woman carrying a 0.8 Mb de novo interstitial deletion in 19q13.32 detected by high-resolution array-CGH. She has severe mental retardation, tetralogy of Fallot, cleft lip and palate, deafness, megacolon and other dysmorphic features. Only a few cases of constitutional deletions located at the long arm of chromosome 19 have been previously described and this is the first report involving 19q13.32. The deleted region encompasses 15 genes, among which 3 candidate genes for genotype–phenotype correlation could be delineated. Since SLC8A2 is broadly expressed in brain and plays a potential role during embryonic development, its haploinsufficiency could possibly be related to mental retardation; as it is also expressed in aortic and intestinal smooth muscles, SLC8A2 could be related to the aortic defect of the complex cardiac malformation and to the megacolon. SAE1, a SUMO-1 activating enzyme subunit, may be related to cleft lip and palate. KPTN coding region may be a candidate gene for hearing loss. Further experimental studies on either in vivo models or diagnostic materials are needed to elucidate the role of these potential candidate genes for the phenotypic abnormalities observed in the investigated patient.     

Haptoglobin polymorphism and lacunar stroke

Haptoglobin (Hp) 2-2 phenotype has been associated with peripheral and coronary artery disease and risk of vascular complications in diabetic patients, but any association of Hp polymorphism with cerebrovascular disease has not been explored so far. We aimed to study Hp polymorphism in a sample of 124 patients with a rather homogeneous type of cerebrovascular disease, namely first symptomatic lacunar stroke due to small vessel disease, in comparison with a large (n=918) control group. Hp phenotypes were determined using starch gel electrophoresis. Hp1 allele frequency was significantly higher in patients than in controls (0.480 vs. 0.395, p<0.05), mainly due to a lower Hp2-2 phenotype frequency (25.0 vs. 36.3 %; OR 0.59; 95%CI 0.38-0.90; p<0.05). This was even more pronounced in younger (相似文献   

Ocular following response to sampled motion

We investigate the impact of monitor frame rate on the human ocular following response (OFR) and find that the response latency considerably depends on the frame rate in the range of 80-160 Hz, which is far above the flicker fusion limit. From the lowest to the highest frame rate the latency declines by roughly 10 ms. Moreover, the relationship between response latency and stimulus speed is affected by the frame rate, compensating and even inverting the effect at lower frame rates. In contrast to that, the initial response acceleration is not affected by the frame rate and its expected dependence on stimulus speed remains stable. The nature of these phenomena reveals insights into the neural mechanism of low-level motion detection underlying the ocular following response.     

Titanium: a review on exposure,release, penetration,allergy, epidemiology,and clinical reactivity

Exposure to titanium (Ti) from implants and from personal care products as nanoparticles (NPs) is common. This article reviews exposure sources, ion release, skin penetration, allergenic effects, and diagnostic possibilities. We conclude that human exposure to Ti mainly derives from dental and medical implants, personal care products, and foods. Despite being considered to be highly biocompatible relative to other metals, Ti is released in the presence of biological fluids and tissue, especially under certain circumstances, which seem to be more likely with regard to dental implants. Although most of the studies reviewed have important limitations, Ti seems not to penetrate a competent skin barrier, either as pure Ti, alloy, or as Ti oxide NPs. However, there are some indications of Ti penetration through the oral mucosa. We conclude that patch testing with the available Ti preparations for detection of type IV hypersensitivity is currently inadequate for Ti. Although several other methods for contact allergy detection have been suggested, including lymphocyte stimulation tests, none has yet been generally accepted, and the diagnosis of Ti allergy is therefore still based primarily on clinical evaluation. Reports on clinical allergy and adverse events have rarely been published. Whether this is because of unawareness of possible adverse reactions to this specific metal, difficulties in detection methods, or the metal actually being relatively safe to use, is still unresolved.     

Derivation of lenticular transmittance from fluorophotometry

PURPOSE: To derive transmittance spectra for the human lens using the ratio between posterior and anterior autofluorescence of the lens as measured by fluorophotometry. METHODS: Transmittance spectra of the lens can be described with a one-parameter model to a high degree of accuracy. The parameter m of this model defines the differences between lens transmittance spectra of individuals. In fluorophotometry literature another parameter related to lens transmittance, T, has been defined as the square root of the ratio between posterior and anterior lenticular autofluorescence. T can be predicted from parameter m, given the spectra of the excitation light, of the fluorescence emitted by the lens and of the detecting device are known, and assuming that the anterior and posterior fluorescence efficiencies of the lens are equal. When this relation is inverted, parameter m can be derived from T, giving the complete transmittance spectrum on the basis of T. RESULTS: A transformation curve was calculated to determine T from m and vice versa. The light transmittance spectrum of the lens was calculated as a function of T. The validity of this approach was evaluated using an independent method for assessment of lenticular transmittance. This method consisted of making color slitlamp slides, grading the observed color of these slides with the LOCS III NC grading system, and transforming these grades into the model parameter m using published transformation curves. CONCLUSIONS: The total transmittance spectrum can be calculated reliably from a fluorophotometric scan of the human lens.     

Pain assessment in patients with possible vascular dementia

PREVIOUS studies comparing Alzheimer's disease (AD) patients with the normal elderly suggest that AD patients experience less pain. In the present study, pain reporting in 20 patients with possible vascular dementia (VaD) was compared to 20 nondemented elderly who had comparable pain conditions. It was hypothesized that, due to de-afferentiation, the possible VaD patients would experience more pain than the cognitively intact elderly. Pain assessment was conducted using three visual analogue scales, (1) the Coloured Analogue Scale (CAS) for Pain Intensity, (2) the CAS for Pain Affect, and (3) the Faces Pain Scale (FPS); a verbal pain questionnaire, Number of Words Chosen--Affective (NWC-A) of the McGill Pain Questionnaire; and an observation scale, the Checklist of Nonverbal Pain Indicators (CNPI). Results showed a significant increase in the scores on the CAS for Pain Affect and the FPS in the demented patients compared to the control group. There was a tendency for an increase in scores on the CNPI in the VaD group. These results suggest that patients with possible VaD suffer more pain than healthy elderly without cognitive impairment.     

Mechanical complications of total shoulder inverted prosthesis

Our series of inverted prosthesis included 5 patients with a mean age of 73 +/- 6 years. In 4 cases, the implant was performed as a surgical revision. The follow up was 81 +/- 15 months. Three shoulders were pain free whereas two caused a dull pain after a free interval due to mechanical complications. The mean active elevation was 72 degrees while external rotation was - 2 degrees. The adjusted Constant score passed from 32 to 60. In case of complications, the score dropped to 32. Mechanical complications were important with in one case, an unscrening of the glenosphere and in two cases, a loosening of the glenoid prosthesis. This last and major complication occurred 6 years after surgery and was promoted by the occurrence of a progressive bone erosion in the scapula. This gap represented an attempt to accomodate the medial part of the humeral prosthesis under the scapula when the arm is at rest or in adduction. The concept of an inverted prosthesis is attractive and this implant remains one of the options in cuff-tear arthropathy. Our results were not as good as those reported by others but most of ours patients had been already operated before. The occurrence of an osseous gap on pilar of scapula may lead to failure of this prosthesis. This gap remains a threath as it can progress and as such warrants a design alteration of the prosthesis.     

How correctly does an intramedullary rod represent the longitudinal tibial axes?

In a robot-assisted procedure for preparing the tibia in total knee arthroplasty, developed in the authors' laboratory, an intramedullary rod is used to register the tibia. In 18 formalin-fixed tibias, the difference in orientation was calculated between the intramedullary rod and several longitudinal tibial axes used in clinical practice. This was done using roentgenstereophotogrammetric analysis. Three tibial axes and two insertion techniques were considered. In three-dimensional space, small differences between the axes are observed. The results showed a high standard deviation, indicating the importance of anatomic differences. In the frontal plane, the difference in orientation between rod and tibial axes never exceeded +/- 2 degrees. In the sagittal plane, the observed differences were larger. Significant differences between the considered axes appeared. The results of the two insertion techniques were not significantly different. Because an intramedullary rod frequently is used for alignment of the tibia in conventional surgery, these results also are valuable for conventional surgery. In the current study, the accuracy of the intramedullary alignment is examined, without influences of the sawing procedure. Moreover, the study is not limited to the frontal plane; the total accuracy in three-dimensional space, and the accuracy in the frontal and the sagittal planes were studied.     

Enhanced coagulation activation in preeclampsia: the role of APC resistance,microparticles and other plasma constituents

In the Second Northwick Park Heart Study, the activation peptides of factor IX (FIXpep) and factor X (FXpep) were measured in 1261 middle-aged men by double-antibody radioimmunoassay. During follow-up 147 men who had a first coronary heart disease (CHD) event were found to have had an increased FIXpep (p = 0.003) and a reduced FXpep (p = 0.05) at baseline compared with those remaining CHD-free (controls). Plasma FIXpep and FXpep were positively associated, but the rate of rise in FIXpep with increasing FXpep was higher in cases than controls (p for interaction = 0.01). In a sample of 87 controls, FIXpep was positively and independently related to the concentrations of a polymorphonuclear-specific fibrinogen degradation product (p = 0.036) and FXpep (p = 0.004), but in larger samples no statistically significant associations were found either with C-reactive protein or with fibrinogen concentration. The findings suggested that the increased FIXpep in men at high CHD-risk may have been partly due to the generation of factor IX inactivation peptides by inflammatory proteolysis and their recognition together with true FIXpep in the radioimmunoassay. Direct evidence for this hypothesis requires development of assays for human elastase-specific factor IX inactivation peptides.