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The potential role of ultrasound techniques in diagnosing acute pulmonary embolism (PE) has been investigated in severe cases with hemodynamic compromise, but is still unclear for the whole clinical spectrum of patients with suspected PE. The aim of this study was to assess the utility of an integrated bedside evaluation for PE based on the combination of a clinical score, 2-dimensional echocardiography, and color venous duplex scanning. A group of 117 consecutive patients with suspected PE was assessed using a clinical likelihood score, echocardiography, and venous duplex scanning in order to obtain a preliminary diagnosis of PE, which was subsequently compared with the final diagnosis obtained by lung perfusion scintigraphy and angiography. A preliminary diagnosis of PE was made in 70 patients; a final diagnosis of PE was made in 63 patients, of which 56 had and 7 did not have a preliminary diagnosis of PE. The preliminary diagnosis therefore showed 89% sensitivity and 74% specificity, with a total accuracy of 82%. In patients with massive PE, sensitivity and negative predictive values of the preliminary diagnosis were 97% and 98%, respectively. Echocardiography was poorly sensitive (51%) but highly specific (87%) for PE. Thus, the integration of clinical likelihood, echocardiography, and venous duplex scanning provides a practical approach to patients with suspected PE, allows the rapid implementation of appropriate management strategies, and may reduce or postpone the need for further instrumental evaluation of more limited access. [ABSTRACT FROM AUTHOR]

Leigh syndrome (LS) associated with cytochrome c oxidase (COX) deficiency is an early onset, fatal mitochondrial encephalopathy, leading to multiple neurological failure and eventually death, usually in the first decade of life. Mutations in SURF1 , a nuclear gene encoding a mitochondrial protein involved in COX assembly, are among the most common causes of LS. LS SURF1 patients display severe, isolated COX deficiency in all tissues, including cultured fibroblasts and skeletal muscle. Recombinant, constitutive SURF1 −/− mice show diffuse COX deficiency, but fail to recapitulate the severity of the human clinical phenotype. Pigs are an attractive alternative model for human diseases, because of their size, as well as metabolic, physiological and genetic similarity to humans. Here, we determined the complete sequence of the swine SURF1 gene, disrupted it in pig primary fibroblast cell lines using both TALENs and CRISPR/Cas9 genome editing systems, before finally generating SURF1 − / − and SURF1 −/+ pigs by Somatic Cell Nuclear Transfer (SCNT). SURF1 −/− pigs were characterized by failure to thrive, muscle weakness and highly reduced life span with elevated perinatal mortality, compared to heterozygous SURF1 −/+ and wild type littermates. Surprisingly, no obvious COX deficiency was detected in SURF1 −/− tissues, although histochemical analysis revealed the presence of COX deficiency in jejunum villi and total mRNA sequencing (RNAseq) showed that several COX subunit-encoding genes were significantly down-regulated in SURF1 −/− skeletal muscles. In addition, neuropathological findings, indicated a delay in central nervous system development of newborn SURF1 −/− piglets. Our results suggest a broader role of sSURF1 in mitochondrial bioenergetics. [ABSTRACT FROM AUTHOR]

An abstract of the article "Heterozygous individuals with mild phenotype in late-onset glycogen storage disease type 2: a new cohort of patients?" by L. Vercelli, E. Vittonatto, S. Grifoni, L. Chiadò-Piat, E. Rolle, M. Spada, C. Danesino, G. Comi and T. Mongini is presented.