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https://www.selleckchem.com/products/cobimetinib-gdc-0973-rg7420.html Copyright © 2020 by The American Association of Immunologists, Inc.The advance in the human genetic field has permitted to identify small chromosome alterations and associate them to a specific phenotype. However, there are many mutations that have not yet been described in the literature. We describe the clinical case of a term newborn with appropriate weight to its gestational age, without perinatal background of interest that, at birth, presented macrocephaly, hypertelorism, low-set ears, prominent forehead, micrognathia, camptodactyly, bilateral cryptorchidism, inspiratory stridor with the cry, multifocal systolic murmur, wide anterior fontanel and hypotonia of mixed characteristics and in whom a deletion of the 1q44 cytoband and a pathogenic duplication in the 9q32q34.3 cytoband were detected. We perform a review of the literature. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.Young man with acute onset nausea, vomiting, joint pain, abdominal pain, fever and weight loss was found to have gait ataxia and positive B rucella titres. He deteriorated despite appropriate antibiotics and developed confusion and disorientation. Lumbar puncture revealed lymphocytosis with high protein and low glucose. MRI showed diffuse demyelination. Pulse steroids resulted in rapid clinical, biochemical and radiological recovery. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.A 73-year-old woman was referred to a tertiary centre with isolated splenic metastasis from previous pT1aNo stage 1a lung adenocarcinoma. The patient underwent a right lower lobe lobectomy and mediastinal lymph node dissection 2 years ago for invasive adenocarcinoma with no adjuvant therapy. An incidental finding of new splenic cyst was noted on surveillance imaging, which was fluorodeoxyglucose positive on positron emission tomogr

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