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The bottom image shows hypoplastic left heart syndrome which has been corrected with surgery to alter blood flow.¹ https://rarediseasereview.com/publications/2022/1/21/placing-canadas-healthcare-policy-during-the-covid-19-pandemic-in-the-perspective-of-the-rare-disease-community monthly 0.5 2022-01-22 https://rarediseasereview.com/publications/2022/1/14/sickle-cell-disease-the-future-could-be-less-sticky monthly 0.5 2022-01-15 https://rarediseasereview.com/publications/2021/11/26/gazyva-new-drug-gets-breakthrough-status monthly 0.5 2021-11-27 https://images.squarespace-cdn.com/content/v1/58647a85be659480ddfef9a6/b3311fa7-ac61-47c6-a71d-6caae0c1381e/membranous-immune-complexes.png Short Form Publications - Gazyva: New Drug Gets Breakthrough Status - Make it stand out Figure 1: Membranous glomerulopathy and membranous nephropathy (MN) are used interchangeably. This diagram demonstrates how immune complexes deposit in the kidney. Antibodies (Y-shaped, black in the picture) in the bloodstream attach to antigens (triangles, black in the picture) and form immune complexes that build up between the layers of the filter (glomerulus). These immune complexes activate the immune system, causing inflammation. Immune complex buildup and inflammation cause the filter to stop working properly and can lead to MN https://rarediseasereview.com/publications/2021/11/19/using-novel-retroviral-gene-therapy-to-treat-ada-scid monthly 0.5 2021-11-19 https://rarediseasereview.com/publications/2021/11/5/medicine-prices-in-canada-time-for-a-change monthly 0.5 2021-11-06 https://rarediseasereview.com/publications/2021/10/29/lambert-eaton-myasthenic-syndrome-treatments-and-interactions-with-cancer monthly 0.5 2021-10-29 https://images.squarespace-cdn.com/content/v1/58647a85be659480ddfef9a6/1635549162163-SK5CZSI5S7RNGS36GJ67/lambert.jpg Short Form Publications - Lambert-Eaton Myasthenic Syndrome: Treatments and Interactions with Cancer - Make it stand out Figure 1: A detailed diagram of the neuromuscular junction or NMJ. The nerve axon terminal comes close to, but does not touch the muscle fibre or sarcolemma. At the synaptic cleft, in the bottom left, it releases neurotransmitters that then bind to the receptor channels in the muscle to generate an effect. Note the importance of the channels at the site where the nerve and muscle meet. https://images.squarespace-cdn.com/content/v1/58647a85be659480ddfef9a6/1635549313443-EB173LEJAK6ZW806B6SS/lambert+2.jpg Short Form Publications - Lambert-Eaton Myasthenic Syndrome: Treatments and Interactions with Cancer - Make it stand out Figure 2: An examination of neurons in normal and LEMS cells, in mouse tissue. In the first graph, normal cells (control) can synapse and create a large increase in membrane potential. The cells with LEMS, however, do not show this stimulation at all. In the second graph, the control human tissues are compared with LEMS-1 and LEMS-2, two different patients with LEMS, and SN-LEMS, a patient with the symptoms but no autoantibodies detect in the blood. 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The pathophysiology of MG. This depicts the destruction of AChRs by antibodies generated by the immune system, preventing neural signal transmission. https://rarediseasereview.com/publications/2021/8/27/wolfram-syndrome-the-cross-link-between-rare-and-common-disease monthly 0.5 2021-08-27 https://rarediseasereview.com/publications/2021/8/6/cat-eye-syndrome monthly 0.5 2021-08-07 https://images.squarespace-cdn.com/content/v1/58647a85be659480ddfef9a6/1628292422778-4ONRTS7BSX7XV5DPHF98/Fig+1+RDR.jpg Short Form Publications - Cat Eye Syndrome - Make it stand out Figure 1. A karyotype of an individual with CES. This individual has partial trisomy of chromosome 22. https://images.squarespace-cdn.com/content/v1/58647a85be659480ddfef9a6/1628294562477-HGKXPQ7GB9TI46T77JI6/Fig+2+RDR.jpg Short Form Publications - Cat Eye Syndrome - Make it stand out Table 1. 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This image may be disturbing for some viewers. https://images.squarespace-cdn.com/content/v1/58647a85be659480ddfef9a6/1614117661816-PDY8RROI8P4X798ON7GS/Tyrosine+Kinase+Receptor.png Short Form Publications - New Treatments for Infantile Myofibromatosis Figure 2: Protein structure of a tyrosine kinase receptor. https://images.squarespace-cdn.com/content/v1/58647a85be659480ddfef9a6/1614117776477-1HLJGQ2I7OGYT92MAD5N/Spindle-Cell+Proliferation.png Short Form Publications - New Treatments for Infantile Myofibromatosis Figure 3: Microscopy imaging of the spindle-cell proliferation inside the lesions. https://images.squarespace-cdn.com/content/v1/58647a85be659480ddfef9a6/1614118042679-3J6F2Z5R34LZ15YFJ88D/Sorafenib2DACS.svg.png Short Form Publications - New Treatments for Infantile Myofibromatosis Figure 4: Sorafenib. https://images.squarespace-cdn.com/content/v1/58647a85be659480ddfef9a6/1614118158538-7N18I2PVJUXSWFQVYB91/Imatinib2DACS.svg+%281%29.png Short Form Publications - New Treatments for Infantile Myofibromatosis Figure 5: Imatinib. https://rarediseasereview.com/publications/2021/2/12/the-reality-of-having-a-rare-genetic-disease-during-a-global-pandemic monthly 0.5 2025-03-22 https://rarediseasereview.com/publications/2021/2/5/osteogenesis-imperfecta-bruck-syndrome-brittle-bone-disease monthly 0.5 2021-02-21 https://rarediseasereview.com/publications/2021/1/28/november-2020-case-competition-winning-abstract-2 monthly 0.5 2021-02-21 https://rarediseasereview.com/publications/2021/1/28/november-2020-case-competition-winning-abstract-1 monthly 0.5 2021-02-21 https://rarediseasereview.com/publications/2021/1/22/williams-syndrome-the-happy-syndrome monthly 0.5 2021-02-21 https://rarediseasereview.com/publications/2020/12/11/orphan-drug-policies-how-does-canada-compare monthly 0.5 2021-02-21 https://rarediseasereview.com/publications/2020/12/4/coronavirus-the-silent-killer-of-rare-diseases monthly 0.5 2021-02-21 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