266 research outputs found
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
No full textCC BY 4.0Published Online First: 15 November 2021Brief communicationThe Genomics England Research ConsortiumCorrespondence to Dr Deborah Shears; [email protected] Dr Jenny C Taylor; [email protected]</p
Discussion of “Comparison of Base Shears Estimated from Floor Accelerations and Column Shears”
No full textIn lieu of a provided abstract, the first paragraph is provided:
The author agrees with Dr. Pinho about difficulties associated with the use of different damping models in nonlinear dynamic analysis. However, the focus of the original manuscript was to illustrate the difference between base shear estimated from floor accelerations, denoted as inertial base shear, and base shear estimated from column shears, denoted as the structural base shear. The difference between the two base shears exists regardless of the damping model used in the nonlinear analysis. In order to illustrate this conclusion, the Los Angeles building of the original manuscript (Goel 2011) was re-analyzed for Earthquake No. 15 using two different Rayleigh damping models: C = α0m + α1kinitial, in which the stiffness-proportional component is proportional to the initial elastic stiffness, kinitial, and C = α0m + α1kcurrent, in which the stiffness-proportional component is proportional to the current stiffness, kcurrent
Relativistic mean field description for the shears band mechanism in Rb-84
No full textFor the first time, the relativistic mean field (RMF) model is applied to the shears band recently observed in Rb-84(37). Signals of the appearance of the shears mechanism, such as smooth decreases of the shears angle and of the B(M1)/B(E2) ratio while keeping the nearly constant tilt angle, are well reproduced. Thus it is shown that the microscopic RMF model can nicely describe the shears band in this nucleus.Physics, NuclearSCI(E)72ARTICLE6null6
Children with sex chromosome trisomies: parental disclosure of genetic status
No full textSex chromosome trisomies (SCTs) are frequently diagnosed, both prenatally and postnatally, but the highly variable childhood outcomes can leave parents at a loss on whether, when and how to disclose genetic status. In two complementary studies, we detail current parental practices, with a view to informing parents and their clinicians. Study 1 surveyed detailed qualitative data from focus groups of parents and affected young people with either Trisomy X or XYY (N=34 families). These data suggested that decisions to disclose were principally affected by the child’s level of cognitive, social and emotional functioning. Parents reported that they were more likely to disclose when a child was experiencing difficulties. In Study 2, standardised data on cognitive, social and emotional outcomes in 126 children with an SCT and 63 sibling controls highlighted results that converged with Study 1: logistic regression analyses revealed that children with the lowest levels of functioning were more likely to know about their SCT than those children functioning at a higher level. These effects were also reflected in the likelihood of parents to disclose to unaffected siblings, schools and general practitioners. In contrast, specific trisomy type and the professional category of the clinician providing the original diagnosis did not affect likelihood of disclosure. Our study emphasises the complex weighing up of costs and benefits that parents engage in when deciding whether to disclose a diagnosis
Holomorphic automorphisms of Danielewski surfaces I - density of the group of overshears
No full textWe define the notion of shears and overshears on a Danielewski surface. We show that the group generated by shears and overshears is dense (in the compact open topology) in the path-connected component of the identity of the holomorphic automorphism group.The research of the first author was partially supported by Schweizerische Nationalfonds grant No 200020-124668/1. The research of the second author was supported by Forskarskolan for Matematik och Berakningsvetenskap FMB
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature
No full textLeri–Weill dyschondrosteosis is a pseudoautosomal dominantly-inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions, point mutations, or partial duplications of the gene, or to heterozygous deletions upstream or downstream of the intact SHOX gene involving conserved non-coding cis-regulatory DNA elements that show enhancer activity. Recently, two SHOX conserved non-coding element duplications, one upstream and one downstream, were reported in patients referred with idiopathic short stature. To further evaluate the role of these duplications in SHOX-related disorders, we describe seven patients (five with Leri-Weill dyschondrosteosis and two with short stature) all of whom have duplications of part of the upstream or downstream conserved non-coding element regions, identified by multiplex ligation-dependent probe amplification. In addition, we show data from 32 patients with an apparently identical downstream duplication that includes a proposed putative regulatory element (identified by multiplex ligation-dependent probe amplification or array comparative genome hybridization), which results in a variable phenotype from normal to mild Leri–Weill dyschondrosteosis. These additional data provide further evidence that duplications of upstream and downstream long range cis-regulatory DNA elements can result in a SHOX-related phenotype. © 2015 Wiley Periodicals, Inc
Probability density functions of extreme wave- and current forces on fixed spaceframe offshore structures
No full textRandom wave and current forces acting on an offshore structure, cause random base shear forces in time. The peak base shear is the maximum value of base shear that occurs during the passage of a wave. The extreme base shear is the maximum value of base shear that occurs within a period of time, say one hour. So far, the distributions of extreme base shear forces acting on jacket type structures were calculated numerically. Time domain simulations of base shear were generated for the jacket type offshore structure by means of a computer program, using the Morison equation on every member segment. Extreme base shears could be sampled from these time records of base shear forces. By simulating a storm over a period significantly greater than one hour, say sixty hours, histograms of extreme base shear could be developed. These computer simulations cause high computer costs. This study investigates a method to develop probability density functions of extreme base shears acting on a jacket-type offshore structure. A probability density function of extreme base shears acting on a single vertical cylindrical column structure was derived analytically in the past. The probability density function for a single column is used to obtain the probability density functions for a jacket-type offshore structure. The complex jacket-type offshore structure is represented by a number of vertical cylindrical columns which cause equivalent wave and current forces.Hydraulic EngineeringCivil Engineering and Geoscience
Phenotypic characterisation and molecular genetic analysis of Leri-Weill dyschondrosteosis
No full textLeri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterised by disproportionate short stature, with shortening of the middle (mesomelic) segments of the limbs, associated with the Madelung deformity of the wrist. Using a positional candidate approach, LWD, which was previously thought to show autosomal dominant inheritance, has been mapped to the major pseudoautosomal region of the X and Y chromosomes, and shown to be caused by mutation or hemizygous deletion of the short stature homeobox gene SHOX. Most cases of LWD are shown to be due to a microdeletion encompassing SHOX. Five different point mutations in SHOX have been identified. Four of these are nonsense mutations causing premature stop codons resulting in truncation of the protein. One missense mutation has been identified in the homeobox, which may reduce the stability of the interaction between the SHOX homeodomain and its DNA target(s). A more severe mesomelic skeletal dysplasia, Langer mesomelic dysplasia (LMD), was proposed on clinical grounds as the homozygous form of LWD and this has been confirmed by the molecular analysis of three cases of LMD. A clinical study including detailed limb length measurements of individuals affected with LWD from 10 families has demonstrated that there is very variable expression, and that females are significantly more severely affected than males particularly in final adult height and in forearm length. The study has identified that shortening of the upper arm (rhizomelia) is also a feature of LWD. Functional analysis of SHOX has been undertaken using the yeast two-hybrid system to identify potential protein-protein interactions involving SHOX. The recently identified transcription factor Dlxin-1 was identified as a potential SHOX interactor, and evidence from GST affinity capture assays to support this interaction is presented
A randomized comparison of clothing removal techniques in a simulated trauma patient exposure
No full textIntroduction
Trauma shears are commonly used by emergency medical services (EMS) providers to remove clothing from patients and expose underlying traumatic injuries. Other tools exist that may be more effective, but they are largely untested. This study compared the use of trauma shears versus two cutting hooks in removing clothing from a simulated trauma patient.
Methods
We recruited 18 paramedic students to participate in a cross-over study designed to remove clothing from a wholly dressed full-body training mannequin using trauma shears (with the cut-and-rip (CAR) technique) and two cutting hooks (S-Cut QE (ES Equipment AB, Nol, Sweden) and the Talon Rescue Emergency Clothing Knife (TRECK+, Talon Rescue, Farmington, CT, USA)). We determined the order of the tools using a three-by-three Latin square and randomized participants equally between possible orders to minimize carryover effects. We recorded times for total clothing removal and the removal of clothing from the upper and lower body, respectively. We employed a mixed-effects analysis of variance (ANOVA) to determine any differences between tools.
Results
Removal time was significantly faster with the S-Cut QE compared to the CAR technique and TRECK+ (mean 78 seconds, 95% confidence interval (CI) 52-103 vs. 142 seconds, 95% CI 117-167, vs. 209 seconds, 95% CI 184-235, p<0.001). The S-Cut QE was significantly faster than the CAR technique and TRECK+ for upper body clothing removal (mean 47 seconds, 95% CI 30-64 vs. 92 seconds, 95% CI 75-109, vs. 131 seconds, 95% CI 115-148, p<0.001) and the S-Cut QE and CAR were significantly faster than TRECK+ for lower body clothing removal (mean 25 seconds, 95% CI 11-38 and 44 seconds, 95% CI 31-58 vs. 71 seconds, 95% CI 58-85, p<0.001). Most (78%) participants preferred the S-Cut QE over other tools.
Conclusion
The S-Cut QE removed clothing from a simulated trauma patient faster than both the CAR and TRECK+. Emergency medical services (EMS) agencies should consider adding a cutting hook to their standard trauma kit
Influence of pre-existing strike-slip faults on fault development during a subsequent phase of extension
No full textThe goal of this study is to investigate how high-angle strike-slip faults affect deformation patterns during a subsequent phase of extension. To accomplish this goal, I use scaled experimental (analog) models with wet clay and two phases of deformation, an initial strike-slip phase and subsequent extensional phase. In Series 1 models, the extension direction varies during the second phase. In Series 2 models, the degree of the strike-slip-fault development varies during the first phase. The first-phase, right-lateral strike-slip deformation consists of subvertical Riedel shears, right-lateral R-shears and left-lateral R’-shears that strike ~15° and ~85°, respectively, relative to the trend of the deformation zone. In Series 1 models, the maximum extension direction relative to the strike of the pre-existing R- and R’-shears controls the likelihood of reactivation, the sense of slip on the reactivated faults, and the orientation of new normal faults. Pre-existing faults that are closer to being subperpendicular to the extension direction are more likely to be reactivated as high-angle normal faults. Additionally, some of the pre-existing R-shears are reactivated as tension gashes. Pre-existing faults that are closer to being subparallel to the extension direction are more likely to be reactivated as oblique-slip/strike-slip faults. Series 2 models show that new faults increasingly become more parallel to the orientation of R-shears as the pre-existing R-shears become better developed. In both Series 1 and 2 models, new faults commonly interact with pre-existing faults by cutting across, initiating at, and/or intersecting them. A pre-existing high-angle fault population can inhibit the development of new faults. A layered model shows that more faults cut the bottom of the clay than cut the top of the clay, suggesting that many faults nucleate at the base of the clay and propagate upward to the top of the clay. The reactivation of the pre-existing high-angle faults during a subsequent episode of extension and the interactions between pre-existing high-angle faults and new faults are comparable to those observed in the Suez rift system.M.S.Includes bibliographical referencesby Christian Satrianta Putra Gintin
- …
