BackgroundSudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an etiology and the identification of relatives at risk. The aim of our study was to define the etiology of natural deaths, younger than 50 years of age, and to investigate whether genetic defects associated with cardiac diseases could provide a potential etiology for the unexplained cases.Methods and FindingsOur cohort included a total of 789 consecutive cases (77.19% males) <50 years old (average 38.6±12.2 years old) who died suddenly from non-violent causes. A comprehensive autopsy was performed according to current forensic guidelines. During autopsy a cause of death was identified in most cases (81.1%), mainly due to cardiac alterations (56.87%). In unexplained cases, genetic analysis of the main genes associated with sudden cardiac death was performed using Next Generation Sequencing technology. Genetic analysis was performed in suspected inherited diseases (cardiomyopathy) and in unexplained death, with identification of potentially pathogenic variants in nearly 50% and 40% of samples, respectively.ConclusionsCardiac disease is the most important cause of sudden death, especially after the age of 40. Close to 10% of cases may remain unexplained after a complete autopsy investigation. Molecular autopsy may provide an explanation for a significant part of these unexplained cases. Identification of genetic variations enables genetic counseling and undertaking of preventive measures in relatives at risk.
Purpose Surgical treatment options for medial compartment osteoarthritis of the knee include high tibial osteotomy, total knee arthroplasty or unicompartmental knee arthroplasty (UKA), depending on the patient's age, level of physical activity and the degree of deformity. Methods In this study, we evaluated the long-term results of patients who underwent the Oxford cemented meniscalbearing unicondylar knee prosthesis through a minimally invasive approach including a clinical, functional and radiographic assessment. Results Favourable clinical and radiological outcomes were registered overall at ten years after surgery. Overall results of UKA according to the American Knee Society (AKS) using Insall's criteria showed an excellent or good outcome for 492 knees (96.28 %), fair for 11 (2.15 %) and poor for eight (1.57 %) in the post-operative long term. Conclusions We believe that with appropriate surgical technique, patient selection, prosthetic design and specific training, surgeons should achieve good outcomes with the added advantages of a minimally invasive approach. High volume for this technique is important in our opinion.
mmHg, pH 7-45, So2 96%. The patient remained asymptomatic except for a residual exertion dyspnoea after five months. Blood parameters had returned to normal values but lung volumes and DLCO were still low five months after the admittance. Our diagnosis from this background was pneumonitis produced by inhalation of toxic gas. After the reported accident the toilet facilities were closed and the Generalitat de Catalunya Occupational Health Department carried out an investigation two days later. The autopsy of the dead worker showed haemorrhagic bronchitis and identified asphyxia as the cause ofdeath probably secondary to inhalation of a toxic gas. Concentrations of toxic materials in blood were not measured. Concentrations of toxic gases above the threshold limit values were not found in the toilets two days after the accident. The lavatories were connected, however, without a siphon, to a manure pit. The facts that could explain a leak through this circuit were the lack of syphon and the fact that the toilets and the manure pit where they drained had been out of order for several months, being used again only just before the accident. That would have allowed hydrogen sulphide and other gases from the organic decomposition in the pit to accumulate. Neither the absence of hydrogen sulphide in the toilet air nor the absence of the characteristic smell in most cases rule out the diagnostic hypothesis of hydrogen sulphide toxicity as the investigation was carried out two days after the accident and the toilet had been aired before the samples were taken. Furthermore it is well known Service of Pneumology, Hospital
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