Genome maps across 26 human populations reveal population-specific patterns of structural variation.

Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in one experiment. Analyzing optical genome maps of 154 individuals from the 26 populations sequenced in the 1000 Genomes Project, we find that phylogenetic population patterns of large SVs are similar to those of single nucleotide variations in 86% of the human genome, while ~2% of the genome has high structural complexity. We are able to characterize SVs in many intractable regions of the genome, including segmental duplications and subtelomeric, pericentromeric, and acrocentric areas. In addition, we discover ~60 Mb of non-redundant genome content missing in the reference genome sequence assembly. Our results highlight the need for a comprehensive set of alternate haplotypes from different populations to represent SV patterns in the genome

Splenic Artery Aneurysms, A Rare Complication of Type 1 Gaucher Disease: Report of Five Cases.

Type 1 Gaucher disease is a rare genetic lysosomal disorder due to acid betaglucosidase deficiency. The main features are thrombocytopenia, anemia, hepatosplenomegaly and complex skeletal disease. Complications include pulmonary hypertension, cirrhosis and splenic infarction; comorbidities, such as autoimmune phenomena, B-cell malignancies and Parkinson disease also occur. Visceral aneurysms have been only rarely noted in Gaucher disease. We report the retrospective data from patients with Gaucher disease type 1 and splenic arterial aneurysm. We describe the different outcomes of a giant splenic arterial aneurysm in five patients with type 1 Gaucher disease and discuss the main possible pathophysiological explanations. Aneurysms of the splenic artery are rare in Gaucher disease but are probably greatly under-reported

Sequential Arterial and Portal Vein Embolization in Patients with Cirrhosis and Hepatocellular Carcinoma: The Hospital Beaujon Experience

When feasible, hepatic resection is the treatment of choice for large hepatocellular carcinoma (HCC). Because HCC is often developed on chronic liver disease, which is known to have limited regeneration capacity, major hepatic resections are often contraindicated. Portal vein embolization (PVE) has been introduced to extend the indications for major hepatic resection and to increase the safety of the surgical procedure. However, hypertrophy after PVE is often less than in normal liver. It has been suggested that preoperative sequential arterial embolization and PVE have a strong anticancer effect and could increase the rate of hypertrophy more than PVE alone. In our experience, sequential arterial embolization and PVE effectively increase the future liver remnant and induce a high rate of complete tumor necrosis. This combined procedure should broaden the indication for major resection in chronic liver disease

Post-hepatectomy liver failure: Should we consider venous outflow?

Introduction: Post-hepatectomy liver failure (PHLF) is one of the most serious complications of liver resection and is associated with high morbidity and mortality rates. Presentation of case: We report a case of PHLF involving clinical presentation of posthepatectomy-related ‘small-for-size’ syndrome (SFSS) secondary to obstructed venous outflow in the liver remnant, following extended right hepatectomy. Discussion: PHLF is similar to SFSS in liver transplantation (LT) in terms of pathogenesis, clinical presentation and outcomes. Although inflow hypertension is clearly implicated in the pathogenesis of SFSS some authors have suggested that outflow obstruction is a potential pathogenic factor. Conclusion: The present case support the hypothesis that outflow obstruction could lead symptoms similar to SFSS

L'Ordinamento sportivo: caratteri generali Principali testi normativi

We present a new method, OMSV, for accurately and comprehensively identifying structural variations (SVs) from optical maps. OMSV detects both homozygous and heterozygous SVs, SVs of various types and sizes, and SVs with or without creating or destroying restriction sites. We show that OMSV has high sensitivity and specificity, with clear performance gains over the latest method. Applying OMSV to a human cell line, we identified hundreds of SVs >2 kbp, with 68 % of them missed by sequencing-based callers. Independent experimental validation confirmed the high accuracy of these SVs. The OMSV software is available at http://yiplab.cse.cuhk.edu.hk/omsv/