Neurofibromatosis

Neurofibromatosis (NF) is one of the most common genetic disorders. Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the peripheral and central nervous system. Neurofibromatosis type 1 (NF1), also referred to as Recklinghausen's disease, affects about 1 in 3500 individuals and presents with a variety of characteristic abnormalities of the skin and the peripheral nervous system. Neurofibromatosis type 2 (NF2), previously termed central neurofibromatosis, is much more rare occurring in less than 1 in 25 000 individuals. Often first clinical signs of NF2 become apparent in the late teens with a sudden loss of hearing due to the development of bi-or unilateral vestibular schwannomas. In addition NF2 patients may suffer from further nervous tissue tumors such as meningiomas or gliomas. This review summarizes the characteristic features of the two forms of NF and outlines commonalities and distinctions between NF1 and NF2

A SARS-CoV-2 protein interaction map reveals targets for drug repurposing

The novel coronavirus SARS-CoV-2, the causative agent of COVID-19 respiratory disease, has infected over 2.3 million people, killed over 160,000, and caused worldwide social and economic disruption1,2. There are currently no antiviral drugs with proven clinical efficacy, nor are there vaccines for its prevention, and these efforts are hampered by limited knowledge of the molecular details of SARS-CoV-2 infection. To address this, we cloned, tagged and expressed 26 of the 29 SARS-CoV-2 proteins in human cells and identified the human proteins physically associated with each using affinity-purification mass spectrometry (AP-MS), identifying 332 high-confidence SARS-CoV-2-human protein-protein interactions (PPIs). Among these, we identify 66 druggable human proteins or host factors targeted by 69 compounds (29 FDA-approved drugs, 12 drugs in clinical trials, and 28 preclinical compounds). Screening a subset of these in multiple viral assays identified two sets of pharmacological agents that displayed antiviral activity: inhibitors of mRNA translation and predicted regulators of the Sigma1 and Sigma2 receptors. Further studies of these host factor targeting agents, including their combination with drugs that directly target viral enzymes, could lead to a therapeutic regimen to treat COVID-19

Pathogenic flora in hematology patients. Gram-negative germs and their in vitro sensitivity to antibiotics

The results of microbiological research carried out on haematological patients admitted to the same ward are reported. The pathogenic flora observed consisted mainly of gram-negative germs (60%). Pseudomonas infections represented the most important problem because of their frequency and the consequent clinical problems. The in vitro sensitivity of 306 strains of gram-negative germs to 11 different antibiotics has been analysed. Amikacin proved to be easily the most effective antibiotic against isolated pathogen

Laparoscopic bile duct injuries: Management at a tertiary liver center

Bile duct injury is a rare but morbid complication of laparoscopic cholecystectomy (LC). This study was undertaken to evaluate the management of 20 patients with bile duct injuries during LC who were referred to a tertiary center with expertise in hepatobiliary surgery and liver transplantation. Sixteen (80%) were female. Mean age was 44 (range 13-70) years. Half of the injuries were distal (Bismuth I), and nearly half were diagnosed at LC. Reoperative repair was attempted in 30 per cent. Mean interval between injury and operation was 6.55 months (range 0 to 36 months). Eighteen patients underwent Roux-en-Y hepaticojejunostomy (HJ). Of the two patients who did not undergo HJ (both Bismuth I), one was treated with transhepatic cholangiography only, and one died of multiorgan failure. There were four minor complications and one late reoperation for stricture. We conclude that bile duct injury after LC is successfully managed in a tertiary center by a hepatobiliary-liver transplant team. Principles of management include anatomic definition of injury, control of sepsis, staged approach involving interventional radiology, and operative techniques refined in liver transplantation including magnification, fine sutures, selective use of internal stent, and liver biopsy

Interest of bivalves to evaluate the transfer of cyanobacteria and cyanotoxins from fresh to estuarine waters

International audienc