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.

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.

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.

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