Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.

INTRODUCTION: Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is characterised by an elevation of methylmalonic acid (MMA) and homocysteine and a decreased production of methionine. The aim is to review existing scientific literature of all late onset cblC patients in terms of clinical symptoms, diagnosis, and outcome. METHODS: A bibliographic database search was undertaken in PubMed (MEDLINE) complemented by a reference list search. We combined search terms regarding cblC disease and late onset. Two review authors performed the study selection, data extraction and quality assessment. RESULTS: Of the sixty-five articles included in this systematic review, we collected a total of 199 patients. The most frequent clinical symptoms were neuropathy/myelopathy, encephalopathy, psychiatric symptoms, thrombotic microangiopathy, seizures, kidney disease, mild to severe pulmonary hypertension with heart failure and thrombotic phenomena. There were different forms of supplementation used in the different studies collected and, within these studies, some patients received several treatments sequentially and/or concomitantly. The general outcome was: 64 patients recovered, 78 patients improved, 4 patients did not improve, or the disease progressed, and 12 patients died. CONCLUSIONS: Most scientific literature regarding the late onset cblC disease comes from case reports and case series. In most cases treatment initiation led to an improvement and even recovery of some patients. The lack of complete recovery underlines the necessity for increased vigilance in unclear clinical symptoms for cblC disease.

Clavipectoral Fascia Plane Block Combined With Superficial Cervical Plexus Block for the Removal of Osteosynthesis Material From Clavicle Fracture.

Clavipectoral fascial plane block combined with superficial cervical plexus block has been used as an anesthetic and analgesic technique in mid-clavicle fracture surgeries. The authors describe two cases in which patients underwent extraction of osteosynthesis material from the clavicle, using clavipectoral fascial plane block combined with superficial cervical plexus block as an anesthetic and analgesic technique in the postoperative period. The mentioned block presented itself as an easy-to-perform technique, apparently safe and effective, allowing to obtain satisfactory results.

Machinability of INCONEL718 Alloy with a Porous Microstructure Produced by Laser Melting Powder Bed Fusion at Higher Energy Densities.

Products produced by additive manufacturing (AM) seek to exploit net shape manufacturing by eliminating or minimizing post-process stages such as machining. However, many applications which include turbo machinery components with tight dimensional tolerances and a smooth surface finish will require at least a light machine finishing stage. This paper investigates the machinability of the additively fabricated INCONEL718 (IN718) alloy produced by laser melting powder bed fusion (LM-PBF) with different levels of spherical porosity in the microstructure. The literature suggests that the band width for laser energy density, which combines the various scan process parameters to obtain a low spherical type porosity in the LM-PBF IN718 alloy (~1%), has wide breadth. With the increasing laser energy density and above a threshold, there is a rapid increase in the spherical pore size. In this paper, three tube samples each with different levels of spherical porosity were fabricated by varying the laser energy density for LM-PBF of the IN718 alloy within the stable and higher energy density range and the porosity measured. A low laser energy density was avoided due to balling up, which promotes highly irregular lack of fusion defects and poor consolidation within the alloy microstructure. An orthogonal turning test instrumented, with a three-component dynamometer to measure the cutting forces, was performed on AM produced IN718 tube samples under light cut conditions to simulate a finish machining process. The orthogonal turning tests were also performed on a tube sample obtained from the wrought extruded stock. The machining process parameters, which were studied include varying the cutting speed at three levels, at a fixed feed and under dry cut conditions for a short duration to avoid the tool wear. The results obtained were discussed and a notable finding was the higher rate of built-up-edge formation on the tool tip from the AM samples with a higher porosity and especially at a higher cutting speed. The paper also discusses the mechanisms that underpin the findings.

Dynamic Behavior of Aluminum Alloy Aw 5005 Undergoing Interfacial Friction and Specimen Configuration in Split Hopkinson Pressure Bar System at High Strain Rates and Temperatures.

In this paper, experimental and numerical results of an aluminum alloy's mechanical behavior are discussed. Over a wide range of strain rates (10-4 s-1 ≤ έ ≤ 103 s-1) the influence of the loading impact, velocity and temperature on the dynamic response of the material was analyzed. The interface friction effect on the material's dynamic response is examined using a split Hopkinson pressure bar (SHPB) in a high temperature experiment using finite element analysis (FEA). The effect of different friction conditions between the specimen and the transmitted/incident bars in the SHPB system was examined using cylinder bulk specimens and cylinder plates defined with four-layer configurations. The results of these tests alongside the presented numerical simulations allow a better understanding of the phenomenon and reduces (minimizes) errors during compression tests at high and low strain rates with temperatures ranging from 21 to 300 °C.

Experimental and Numerical Study of the Thermo-Viscoplastic Behavior of NICRO 12.1 for Perforation Tests.

Dynamic impact tests using thin metal plates for ballistic characterization have received significant attention in recent years. The Johnson-Cook (J-C) model is extensively used in numerical modeling of impact and penetration in metals. The AISI (American Iron and Steel Institute) 301 steel family presents good impact behavior, excellent formability, and high corrosion resistance. Thus, NICRO (Nickel and Hard Chrome Plated Steel) 12.1 (part of the AISI 301 steel family) was chosen in this work, although parameters of the J-C model or impact results were not found in the literature. In this work, NICRO 12.1 steel plates, were characterized in ballistics with an initial impact velocity up to 200 m/s and three shape nose projectiles. The Johnson-Cook parameters for the NICRO 12.1 steel were calculated for a large range of temperatures and strain rates. Impact tests were carried out using three projectiles: conical, hemispherical, and blunt. The ballistic curves, failure mode, and maximum deformation obtained with each projectile, experimentally and numerically, were compared, and a good correlation was obtained.

Postmortem Analysis Using Different Sensors and Technologies on Aramid Composites Samples after Ballistic Impact.

This work focuses on the combination of two complementary non-destructive techniques to analyse the final deformation and internal damage induced in aramid composite plates subjected to ballistic impact. The first analysis device, a 3D scanner, allows digitalising the surface of the tested specimen. Comparing with the initial geometry, the permanent residual deformation (PBFD) can be obtained according to the impact characteristics. This is a significant parameter in armours and shielding design. The second inspection technique is based on computed tomography (CT). It allows analysing the internal state of the impacted sample, being able to detect possible delamination and fibre failure through the specimen thickness. The proposed methodology has been validated with two projectile geometries at different impact velocities, being the reaction force history on the specimen determined with piezoelectric sensors. Different loading states and induced damages were observed according to the projectile type and impact velocity. In order to validate the use of the 3D scanner, a correlation between impact velocity and damage induced in terms of permanent back face deformation has been realised for both projectiles studied. In addition, a comparison of the results obtained through this measurement method and those obtained in similar works, has been performed in the same range of impact energy. The results showed that CT is needed to analyse the internal damage of the aramid sample; however, this is a highly expensive and time-consuming method. The use of 3D scanner and piezoelectric sensors is perfectly complementary with CT and could be relevant to develop numerical models or design armours.

Numerical Modelling of Femur Fracture and Experimental Validation Using Bone Simulant.

Bone fracture pattern prediction is still a challenge and an active field of research. The main goal of this article is to present a combined methodology (experimental and numerical) for femur fracture onset analysis. Experimental work includes the characterization of the mechanical properties and fracture testing on a bone simulant. The numerical work focuses on the development of a model whose material properties are provided by the characterization tests. The fracture location and the early stages of the crack propagation are modelled using the extended finite element method and the model is validated by fracture tests developed in the experimental work. It is shown that the accuracy of the numerical results strongly depends on a proper bone behaviour characterization.

A review on recent advances in numerical modelling of bone cutting.

Common practice of surgical treatments in orthopaedics and traumatology involves cutting processes of bone. These operations introduce risk of thermo-mechanical damage, since the threshold of critical temperature producing thermal osteonecrosis is very low. Therefore, it is important to develop predictive tools capable of simulating accurately the increase of temperature during bone cutting, being the modelling of these processes still a challenge. In addition, the prediction of cutting forces and mechanical damage is also important during machining operations. As the accuracy of simulations depends greatly on the proper choice of the thermo-mechanical properties, an essential part of the numerical model is the constitutive behaviour of the bone tissue, which is considered in different ways in the literature. This paper focuses on the review of the main contributions in modelling of bone cutting with special attention to the bone mechanical behaviour. The aim is to give the reader a complete vision of the approaches commonly presented in the literature in order to help in the development of accurate models for bone cutting.

Experimental Analysis of the Influence of Drill Point Angle and Wear on the Drilling of Woven CFRPs.

This paper focuses on the effect of the drill geometry on the drilling of woven Carbon Fiber Reinforced Polymer composite (CFRPs). Although different geometrical effects can be considered in drilling CFRPs, the present work focuses on the influence of point angle and wear because they are the important factors influencing hole quality and machining forces. Surface quality was evaluated in terms of delamination and superficial defects. Three different point angles were tested representative of the geometries commonly used in the industry. Two wear modes were considered, being representative of the wear patterns commonly observed when drilling CFRPs: flank wear and honed cutting edge. It was found that the crossed influence of the point angle and wear were significant to the thrust force. Delamination at the hole entry and exit showed opposite trends with the change of geometry. Also, cutting parameters were checked showing the feed's dominant influence on surface damage.

Theoretical Estimation of Thermal Effects in Drilling of Woven Carbon Fiber Composite.

Carbon Fiber Reinforced Polymer (CFRPs) composites are extensively used in structural applications due to their attractive properties. Although the components are usually made near net shape, machining processes are needed to achieve dimensional tolerance and assembly requirements. Drilling is a common operation required for further mechanical joining of the components. CFRPs are vulnerable to processing induced damage; mainly delamination, fiber pull-out, and thermal degradation, drilling induced defects being one of the main causes of component rejection during manufacturing processes. Despite the importance of analyzing thermal phenomena involved in the machining of composites, only few authors have focused their attention on this problem, most of them using an experimental approach. The temperature at the workpiece could affect surface quality of the component and its measurement during processing is difficult. The estimation of the amount of heat generated during drilling is important; however, numerical modeling of drilling processes involves a high computational cost. This paper presents a combined approach to thermal analysis of composite drilling, using both an analytical estimation of heat generated during drilling and numerical modeling for heat propagation. Promising results for indirect detection of risk of thermal damage, through the measurement of thrust force and cutting torque, are obtained.

Elastose perfurante serpiginosa / Elastosis perforans serpiginosa

A elastose perfurante serpiginosa é uma dermatose perfurante rara caracterizada pela eliminação transepidérmica de fibras elásticas alteradas. A etiologia é desconhecida, mas alguns casos têm sido associados a alterações genéticas. É mais freqüente em jovens do sexo masculino na 2ª década de vida. O quadro clínico caracteriza-se por pápulas umbilicadas, com centro córneo, localizadas principalmente no pescoço e dispostas em padrão serpiginoso. Pode ser classificada em idiopática, reativa (associada a doenças do tecido conjuntivo) e induzida por penicilamina. Diferentes modalidades terapêuticas são descritas na literatura. Neste artigo descreve-se um caso de elastose perfurante serpiginosa em paciente do sexo feminino com 47 anos, com doença de Wilson, em uso prolongado de penicilamina

Elastosis perforans serpiginosa is a rare reactive perforanting dermatosis characterized by a process of transepidermal elimination of elastic fibers. The cause is unknown, but a genetically determined defect of elastic tissue has been proposed. Commonly occur in young persons in the second decade, with a higher incidence among males. Clinically, umbilicated papules with a central plug appear characteristically on the neck, creating the elevated serpiginous border. It has been characterized in idiopathic, reactive (with associated connective tissue disease) and penicillamine-induced. Different options of treatment have been described in the literature. We describe a 47-year-old female with elastosis perforans serpiginosa and Wilson?s disease who has been treated with longterm penicillamine therapy