A De Novo Missense Variant in Combination with Two Inherited Missense Variants in and Detected in a Patient with Chronic Pancreatitis.

Chronic pancreatitis is often secondary to alcohol abuse, but pancreatitis with no other aetiology is frequently associated with variants in genes encoding proteins related to zymogen granule activation. Our goal was to identify genomic variants in a patient by analyzing an extended panel of genes associated with the intra-pancreatic activation of the trypsin pathway. A 23-year-old woman was addressed at our institution because of chronic pancreatitis of unknown aetiology presenting recurrent episodes since she was the age of four.

Hybrid Shell-Beam Inverse Finite Element Method for the Shape Sensing of Stiffened Thin-Walled Structures: Formulation and Experimental Validation on a Composite Wing-Shaped Panel.

This work presents a novel methodology for the accurate and efficient elastic deformation reconstruction of thin-walled and stiffened structures from discrete strains. It builds on the inverse finite element method (iFEM), a variationally-based shape-sensing approach that reconstructs structural displacements by matching a set of analytical and experimental strains in a least-squares sense. As iFEM employs the finite element framework to discretize the structural domain and as the displacements and strains are approximated using element shape functions, the kind of element used influences the accuracy and efficiency of the iFEM analysis.

Implantable medical devices for tendon and ligament repair: a review of patents and commercial products.

Introduction: Tendon and ligament injuries are a frequent and debilitating issue that affects many patients worldwide. The predominant solution is the suture thread, which is not without potential side effects and limitations. Implantable medical devices have gained more attention as an alternative approach.

Design and Mechanical Characterization Using Digital Image Correlation of Soft Tissue-Mimicking Polymers.

Present and future anatomical models for biomedical applications will need bio-mimicking three-dimensional (3D)-printed tissues. These would enable, for example, the evaluation of the quality-performance of novel devices at an intermediate step between ex-vivo and in-vivo trials. Nowadays, PolyJet technology produces anatomical models with varying levels of realism and fidelity to replicate organic tissues.

Non-Destructive Techniques for the Condition and Structural Health Monitoring of Wind Turbines: A Literature Review of the Last 20 Years.

A complete surveillance strategy for wind turbines requires both the condition monitoring (CM) of their mechanical components and the structural health monitoring (SHM) of their load-bearing structural elements (foundations, tower, and blades). Therefore, it spans both the civil and mechanical engineering fields. Several traditional and advanced non-destructive techniques (NDTs) have been proposed for both areas of application throughout the last years.

Effects of the Manufacturing Methods on the Mechanical Properties of a Medical-Grade Copolymer Poly(L-lactide-co-D,L-lactide) and Poly(L-lactide-co-ε-caprolactone) Blend.

Biocompatible and biodegradable polymers represent the future in the manufacturing of medical implantable solutions. As of today, these are generally manufactured with metallic components which cannot be naturally absorbed within the human body. This requires performing an additional surgical procedure to remove the remnants after complete rehabilitation or to leave the devices in situ indefinitely.

A Comparative Analysis of Signal Decomposition Techniques for Structural Health Monitoring on an Experimental Benchmark.

Signal Processing is, arguably, the fundamental enabling technology for vibration-based Structural Health Monitoring (SHM), which includes damage detection and more advanced tasks. However, the investigation of real-life vibration measurements is quite compelling. For a better understanding of its dynamic behaviour, a multi-degree-of-freedom system should be efficiently decomposed into its independent components.

3D printing and testing of rose thorns or limpet teeth inspired anchor device for tendon tissue repair.

Purposes: Advancements in medical technology have enabled medical specialists to resolve significant problems concerning tendon injuries. However, despite the latest improvements, surgical tendon repair remains challenging. This study aimed to explore the capabilities of the current state-of-the-art technologies for implantable devices.

Shape Sensing of Plate Structures Using the Inverse Finite Element Method: Investigation of Efficient Strain-Sensor Patterns.

Methods for real-time reconstruction of structural displacements using measured strain data is an area of active research due to its potential application for Structural Health Monitoring (SHM) and morphing structure control. The inverse Finite Element Method (iFEM) has been shown to be well suited for the full-field reconstruction of displacements, strains, and stresses of structures instrumented with discrete or continuous strain sensors. In practical applications, where the available number of sensors may be limited, the number and sensor positions constitute the key parameters.

Novel Compound Heterozygous Mutations in α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment.

Patients with severe combined immunodeficiency (SCID) exhibit T lymphopenia and profound impairments in cellular and humoral immunity. IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive and high risk of mortality unless treated. Here, we reported an atypical and delayed onset of IL7Rα-SCID in a 15-month-old girl presenting with thrombocytopenia.

Phenotype characterisation of mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.

Rare variants in the T-box transcription factor 4 gene () have recently been recognised as an emerging cause of paediatric pulmonary hypertension (PH). Their pathophysiology and contribution to persistent pulmonary hypertension in neonates (PPHN) are unknown. We sought to define the spectrum of clinical manifestations and histopathology associated with variants in neonates and children with PH.

Using Video Processing for the Full-Field Identification of Backbone Curves in Case of Large Vibrations.

Nonlinear modal analysis is a demanding yet imperative task to rigorously address real-life situations where the dynamics involved clearly exceed the limits of linear approximation. The specific case of geometric nonlinearities, where the effects induced by the second and higher-order terms in the strain-displacement relationship cannot be neglected, is of great significance for structural engineering in most of its fields of application-aerospace, civil construction, mechanical systems, and so on. However, this nonlinear behaviour is strongly affected by even small changes in stiffness or mass, e.

Influence of the patellar button thickness on the knee flexion after total knee arthroplasty.

Purpose: One of the main problems of knee replacement is the limit of knee flexion. This study focuses on the knee implant and the patellar component currently in use in total knee arthroplasty, analyzing the influence of patellar thickness on the degree of knee flexion following surgery.

Methods: A kinematics study was performed to evaluate whether an optimal patellar thickness can be identified, which enables the maximum flexion angle to be achieved.

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.

Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than 2 chromosomal breakpoints. They are associated with different outcomes depending on the deletion/duplication of genomic material, gene disruption, or position effects. Balanced CCRs can also undergo missegregation during meiotic division, leading to unbalanced derivative chromosomes and, in some cases, to affected offspring.

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

We present the clinical, morphological and molecular data of an Italian family with centronuclear myopathy, carrying a novel pathogenic mutation of BIN1 gene in heterozygous state, consistent with autosomal dominant inheritance. The proband, a 56-years-old man suffered of lower limbs myalgia and slight CK elevation. Clinical examination revealed no muscle weakness, short stature, mild symmetric eyelid ptosis, scapular winging, ankle retraction and well-developed muscles.

Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

: Genetic features of Chronic Pancreatitis (CP) have been extensively investigated mainly testing genes associated to the trypsinogen activation pathway. However, different molecular pathways involving other genes may be implicated in CP pathogenesis. 80 patients with Idiopathic CP were investigated using Next Generation Sequencing approach with a panel of 70 genes related to six different pancreatic pathways: premature activation of trypsinogen; modifier genes of Cystic Fibrosis phenotype; pancreatic secretion and ion homeostasis; Calcium signalling and zymogen granules exocytosis; autophagy; autoimmune pancreatitis related genes.

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

Background: Retinoblastoma (RB) is the most common malignant childhood tumor of the eye and results from inactivation of both alleles of the RB1 gene. Nowadays RB genetic diagnosis requires classical chromosome investigations, Multiplex Ligation-dependent Probe Amplification analysis (MLPA) and Sanger sequencing. Nevertheless, these techniques show some limitations.

Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis.

Cystic fibrosis (CF), the most common autosomal recessive disease in whites, is caused by mutations in the CF transmembrane conductance regulator (CFTR). So far, >1900 mutations have been described, most of which are nonsense, missense, and frameshift, and can lead to severe phenotypes, reducing the level of function of the CFTR protein. Synonymous variations are usually considered silent without pathogenic effects.

Two novel cases of trilateral retinoblastoma: genetics and review of the literature.

Retinoblastoma (RB) is the most common eye tumor in children; it originates from germline and/or somatic mutations that inactivate both alleles of the RB1 gene located on chromosome 13q14. Patients with unilateral or bilateral RB infrequently may develop an additional intracranial neuroblastic tumor, usually in the pineal gland, which characterizes the trilateral retinoblastoma (TRB) syndrome. The most common chromosomal abnormalities detected in TRB are deletions at 13q14, even if some rare cases of RB1 point mutations were described.

Telomere shortening and telomere position effect in mild ring 17 syndrome.

Background: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of the syndrome. Moreover, similar phenotypic features have been observed in cases with complete or partial loss of the telomeric repeats and conservation of the euchromatic regions.

High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma.

Neuroblastoma (NB), the most common solid cancer in early childhood, usually occurs sporadically but also its familial occurance is known in 1-2% of NB patients. Germline mutations in the ALK and PHOX2B genes have been found in a subset of familial NBs. However, because some individuals harbouring mutations in these genes do not develop this tumor, additional genetic alterations appear to be required for NB pathogenesis.

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.

Background: Ring chromosome 6 is a rare constitutional abnormality that generally occurs de novo. The related phenotype may be highly variable ranging from an almost normal phenotype to severe malformations and mental retardation. These features are mainly present when genetic material at the end of the chromosome is lost.

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Microdeletion 1q21.1 (del 1q21.1) and the reciprocal microduplication 1q21.