Diffusion pruning for rapidly and robustly selecting global correspondences using local isometry

Finding correspondences between two surfaces is a fundamental operation in various applications in computer graphics and related fields. Candidate correspondences can be found by matching local signatures, but as they only consider local geometry, many are globally inconsistent. We provide a novel algorithm to prune a set of candidate correspondences to those most likely to be globally consistent. Our approach can handle articulated surfaces, and ones related by a deformation which is globally nonisometric, provided that the deformation is locally approximately isometric. Our approach uses an efficient diffusion framework, and only requires geodesic distance calculations in small neighbourhoods, unlike many existing techniques which require computation of global geodesic distances. We demonstrate that, for typical examples, our approach provides significant improvements in accuracy, yet also reduces time and memory costs by a factor of several hundred compared to existing pruning techniques. Our method is furthermore insensitive to holes, unlike many other methods

Sacral agenesis: a pilot whole exome sequencing and copy number study

Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. CRS is a complex condition, attributed to an abnormal development of the caudal mesoderm, likely caused by the effect of interacting genetic and environmental factors. A well-known risk factor is maternal type 1 diabetes. Method: Whole exome sequencing and copy number variation (CNV) analyses were conducted on 4 Caucasian trios to identify de novo and inherited rare mutations. Results: In this pilot study, exome sequencing and copy number variation (CNV) analyses implicate a number of candidate genes, including SPTBN5, MORN1, ZNF330, CLTCL1 and PDZD2. De novo mutations were found in SPTBN5, MORN1 and ZNF330 and inherited predicted damaging mutations in PDZD2 (homozygous) and CLTCL1 (compound heterozygous). Importantly, predicted damaging mutations in PTEN (heterozygous), in its direct regulator GLTSCR2 (compound heterozygous) and in VANGL1 (heterozygous) were identified. These genes had previously been linked with the CRS phenotype. Two CNV deletions, one de novo (chr3q13.13) and one homozygous (chr8p23.2), were detected in one of our CRS patients. These deletions overlapped with CNVs previously reported in patients with similar phenotype. Conclusion: Despite the genetic diversity and the complexity of the phenotype, this pilot study identified genetic features common across CRS patients

Early post-operative interleukin-6 and tumor necrosis factor-α levels after single-port laparoscopic varicocelectomy in children

PURPOSE: Laparoendoscopic single-site surgery has recently been described in children and regarded as an improved technology leading to less pain and better cosmetic outcome. Compared to the traditional three-port method, it is not known if the single-port method is less invasive. The aim of this study was thus to investigate the post-operative acute inflammatory response in order to evaluate surgical stress in the two surgical approaches in children. METHODS: A prospective, single blinded, case-control study was carried out. Thirteen male patients who presented with unilateral varicocele were divided into two groups. Six children underwent single-port laparoscopic procedure, while the other seven children underwent three-port laparoscopic procedure. Pre-operative and post-operative blood samples were taken for the measurement of tumor necrosis factor-alpha (TNF-alpha) and interleukin 6 (IL-6) using ELISA. Demographics including the operation time, and complications were recorded. Data between the two groups were analyzed using unpaired t-test and a p value of <0.05 was taken as statistically significant. RESULTS: The mean age of patients was 14.5 years (range 12-19 years). There was no significant difference between the two groups in terms of operative time, nor there was any complication recorded. The change in serum TNF-alpha and IL-6 concentrations pre- and post-operatively between the single-port group and three-port group was not statistically significant. Overall, patients in the two groups showed excellent satisfaction in terms of post-operative cosmesis. CONCLUSION: Single-port laparoscopic varicocelectomy is safe, effective and produces excellent cosmesis with minimal surgical stress.published_or_final_versionSpringer Open Choice, 21 Feb 201

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes

Background: Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians. To our knowledge, no genetic study has ever been conducted. Methods: We aim to identify genetic risk factors by a “trio-based” exome-sequencing approach, whereby 31 CDD probands and their unaffected parents were exome-sequenced. Seven-hundred controls from the local population were used to detect gene-sets significantly enriched with rare variants in CDD patients. Results: Twenty-one predicted damaging de novo variants (DNVs; 4 protein truncating and 17 missense) were identified in several evolutionarily constrained genes (p &#60; 0.01). Six genes carrying DNVs were associated with human developmental disorders involving epithelial, connective or bone morphologies (PXDN, RTEL1, ANKRD11, MAP2K1, CYLD, ACAN) and four linked with cholangio- and hepatocellular carcinomas (PIK3CA, TLN1 CYLD, MAP2K1). Importantly, CDD patients have an excess of DNVs in cancer-related genes (p &#60; 0.025). Thirteen genes were recurrently mutated at different sites, forming compound heterozygotes or functionally related complexes within patients. Conclusions: Our data supports a strong genetic basis for CDD and show that CDD is not only genetically heterogeneous but also non-monogenic, requiring mutations in more than one genes for the disease to develop. The data is consistent with the rarity and sporadic presentation of CDD

Elucidating the aetiology of human Campylobacter coli infections

Peer reviewedPublisher PD

Registration of 3D Point Clouds and Meshes: A Survey From Rigid to Non-Rigid

Three-dimensional surface registration transforms multiple three-dimensional data sets into the same coordinate system so as to align overlapping components of these sets. Recent surveys have covered different aspects of either rigid or nonrigid registration, but seldom discuss them as a whole. Our study serves two purposes: 1) To give a comprehensive survey of both types of registration, focusing on three-dimensional point clouds and meshes and 2) to provide a better understanding of registration from the perspective of data fitting. Registration is closely related to data fitting in which it comprises three core interwoven components: model selection, correspondences and constraints, and optimization. Study of these components 1) provides a basis for comparison of the novelties of different techniques, 2) reveals the similarity of rigid and nonrigid registration in terms of problem representations, and 3) shows how overfitting arises in nonrigid registration and the reasons for increasing interest in intrinsic techniques. We further summarize some practical issues of registration which include initializations and evaluations, and discuss some of our own observations, insights and foreseeable research trends