Five-year outcomes of western mental health training for Traditional Chinese Medicine Practitioners

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MiR-141 not only modulates anoikis resistance of ovarian cancer cells but also alters pre-metastatic niche for ovarian cancer cell metastatic colonization

Conference Theme: From Cancer Biology to the ClinicINTRODUCTION: Epithelial ovarian cancer (EOC) is the most lethal gynecologic malignancy worldwide. This disease is generally called the ‘silent killer’ because there are no symptoms and thus, the majority of patients are found in advanced stages accompanied by extensive metastasis. Most deaths from this cancer are attributed to metastatic progression. The cancer metastasis is determined by the priming of metastatic niche and the intrinsic properties of cancer cells to adapt ...postprin

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

BackgroundHomozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low-density lipoprotein (LDL) cholesterol in affected individuals. It is usually caused by homozygous or compound heterozygous functional mutations in the LDL receptor (LDLR). A number of mutations causing FH have been reported in literature and such genetic heterogeneity presents great challenges for disease diagnosis.ObjectiveWe aim to determine the likely genetic defects responsible for three cases of pediatric HoFH in two kindreds.MethodsWe applied whole exome sequencing (WES) on the two probands to determine the likely functional variants among candidate FH genes. We additionally applied 10x Genomics (10xG) Linked-Reads whole genome sequencing (WGS) on one of the kindreds to identify potentially deleterious structural variants (SVs) underlying HoFH. A PCR-based screening assay was also established to detect the LDLR structural variant in a cohort of 641 patients with elevated LDL.ResultsIn the Caucasian kindred, the FH homozygosity can be attributed to two compound heterozygous LDLR damaging variants, an exon 12 p.G592E missense mutation and a novel 3kb exon 1 deletion. By analyzing the 10xG phased data, we ascertained that this deletion allele was most likely to have originated from a Russian ancestor. In the Mexican kindred, the strikingly elevated LDL cholesterol level can be attributed to a homozygous frameshift LDLR variant p.E113fs.ConclusionsWhile the application of WES can provide a cost-effective way of identifying the genetic causes of FH, it often lacks sensitivity for detecting structural variants. Our finding of the LDLR exon 1 deletion highlights the broader utility of Linked-Read WGS in detecting SVs in the clinical setting, especially when HoFH patients remain undiagnosed after WES

Fear of movement/(re)injury in Chinese patients with chronic pain: Factorial validity of the Chinese version of the Tampa Scale for Kinesiophobia

Objective: To assess the factor structure of the Chinese version of the Tampa Scale for Kinesiophobia (TSK). Design: Chinese patients with chronic pain attending either orthopaedic specialist services (n = 216) or multidisciplinary specialist pain services (n = 109) participated in this study. Methods: Subjects completed the Chinese version of TSK, The Chronic Pain Grade Questionnaire, Hospital Anxiety and Depression Scale, and questions assessing socio-demographic characteristics. Confirmatory factor analyses were used to compare hierarchical and correlated models of 5 different factor solutions previously reported in patients with chronic pain in the West. Results: Confirmatory factor analyses demonstrated inequality of the TSK factor structure, in that the TSK11 for the orthopaedics sample was best represented by a two-factor correlated model (S-Bχ2 = 49.593; comparative fit index (CFI) = 0.93; normed filt index (NFI) = 0.911; root mean square error of approximation (RMSEA) = 0.025) comprising 2 first-order factors, Somatic Focus (TSK11-SF) and Activity Avoidance (TSK-AA). The pain clinic sample showed a one-factor structure as best representing the TSK4’s underlying dimensions (CFI  = 0.971; NFI = 0.912; RMSEA = 0.048). There was no evidence to support a single overarching concept of kinesiophobia. Conclusion: The TSK appears to have utility in Chinese chronic pain populations. Elucidation of the TSK’s psychometrics properties in other Chinese/Asian pain populations with different diagnoses and presentations of pain problems is warranted

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

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Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

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Generation of subject-specific, dynamic, multisegment ankle and foot models to improve orthotic design: a feasibility study

ABSTRACT: BACKGROUND: Currently, custom foot and ankle orthosis prescription and design tend to be based on traditional techniques, which can result in devices which vary greatly between clinicians and repeat prescription. The use of computational models of the foot may give further insight in the biomechanical effects of these devices and allow a more standardised approach to be taken to their design, however due to the complexity of the foot the models must be highly detailed and dynamic. METHODS: Functional and anatomical datasets will be collected in a multicentre study from 10 healthy participants and 15 patients requiring orthotic devices. The patient group will include individuals with metarsalgia, flexible flat foot and drop foot. Each participant will undergo a clinical foot function assessment, 3D surface scans of the foot under different loading conditions, and detailed gait analysis including kinematic, kinetic, muscle activity and plantar pressure measurements in both barefoot and shod conditions. Following this each participant will undergo computed tomography (CT) imaging of their foot and ankle under a range of loads and positions while plantar pressures are recorded. A further subgroup of participants will undergo magnetic resonance imaging (MRI) of the foot and ankle. Imaging data will be segmented to derive the size of bones and orientation of the joint axes. Insertion points of muscles and ligaments will be determined from the MRI and CT-scans and soft tissue material properties computed from the loaded CT data in combination with the plantar pressure measurements. Gait analysis data will be used to drive the models and in combination with the 3D surface scans for scaling purposes. Predicted plantar pressures and muscle activation patterns predicted from the models will be compared to determine the validity of the models. DISCUSSION: This protocol will lead to the generation of unique datasets which will be used to develop linked inverse dynamic and forward dynamic biomechanical foot models. These models may be beneficial in predicting the effect of and thus improving the efficacy of orthotic devices for the foot and ankle