How Does Gaucher Disease Present?

Discussion Gaucher disease (GD) was first described by Philippe Gaucher in 1882. It was the first lysosomal storage disease (LSD) described and is the comparison prototype for many variations and their treatment. There are about 50 LSD and more well-known ones include Fabry, Niemann-Pick and Pompe diseases. LSDs currently have more than 300 different enzymes or membrane proteins affected which cause central nervous system and visceral disease. Overall the frequency of LSDs in aggregate is 1:3000 – 7000 live births. GD has an estimated prevalence of 1:57,000 – 111,000. It is higher within the Ashkenazi Jewish population (~1:850). GD is an autosomal recessive disease whose main enzyme defect is acid β-glucosidase which causes accumulation of glucosylceramide, an indigestible lipid. This occurs in macrophage-lineage organs. Activated macrophages also affect a number of inflammatory pathways. Therefore organ systems are affected by lipid accumulation but also inflammation. Primary systems affected are the liver, spleen, bone marrow, lungs and central nervous system but other systems are also affected depending on the phenotype. Learning Point GD diagnosis may not occur until later ages when clinical manifestations occur. Splenomegaly is the presenting symptom for 95-99% of patients depending on the age. Diagnosis is by showing deficient enzyme activity in an appropriate tissue such as peripheral blood leukocytes. Genotyping can be helpful to help determine natu...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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Dalton Trans., 2020, Accepted Manuscript DOI: 10.1039/C9DT04545G, PaperJoanna Izabela Izabela Lachowicz, Gabriele Dalla Torre, Rosita Cappai, Enrico Randaccio, Valeria Marina Nurchi, Remigiusz RB Bachor, Zbigniew Szewczuk, Lukasz Jaremko, Mariusz Jaremko, Maria Barbara MBP Pisano, Sofia SC Cosentino, Germano Orr ù, Antonella AI Ibba, Joni JM Mujika, Xabier Lopez Mimosine is a non-protein aminoacid with various properties, such as antibacterial, anti-inflammatory, anti-cancer and anti-virus among others. Due to its structure similarity with deferiprone (DFP), mimosine is a potential excellent... The content of this R...
Source: RSC - Dalton Trans. latest articles - Category: Chemistry Authors: Source Type: research
Today, The Department of Justice issued an announcement that was “the first ever criminal action against an EHR vendor.” Criminal action The core of the criminal action was something inevitable:  the tension between better health and better profit.  Here’s what I saw … all of which caused me to be not-so-surprised today when the news broke. In 2008 I was the CMIO at Allscripts.  Much of my work was focused on how our customers could use our products to improve the health of our patients.  We implemented clinical practice guidelines in the software as a way to help clinical teams...
Source: Docnotes - Category: Primary Care Authors: Tags: Uncategorized Source Type: blogs
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Source: Nursing - Category: Nursing Tags: Department: INFOBYTES Source Type: research
(New York University) Following up on their landmark 2016 study, researchers at NYU Grossman School of Medicine found that a one-time, single-dose treatment of psilocybin, a compound found in psychedelic mushrooms, combined with psychotherapy appears to be associated with significant improvements in emotional and existential distress in cancer patients.
Source: EurekAlert! - Social and Behavioral Science - Category: International Medicine & Public Health Source Type: news
ConclusionIn this cohort of middle-aged Danes, diet quality was neither statistically significantly associated with the hazards of late-onset MS diagnosis in the entire sample, nor in sub-groups of current smokers, former smokers or never smokers.
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
UCLA researchers are part of an international team that reported the use of a stem cell gene therapy to treat nine people with the rare, inherited blood disease known as X-linked chronic granulomatous disease, or X-CGD. Six of those patients are now in remission and have stopped other treatments. Before now, people with X-CGD – which causes recurrent infections, prolonged hospitalizations for treatment, and a shortened lifespan – had to rely on bone marrow donations for a chance at remission.“With this gene therapy, you can use a patient’s own stem cells instead of donor cells for a transplant,&rdqu...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news
Publication date: Available online 27 January 2020Source: International Journal of PharmaceuticsAuthor(s): Lokesh Kaushik, Shubham Srivastava, Anshul Panjeta, Dasharath Chaudhari, Rohan Ghadi, Kaushik Kuche, Ruchi Malik, Simran Preet, Sanyog Jain, Kaisar RazaAbstractDocetaxel (DTX), a widely prescribed anticancer agent, is now associated with increased instances of multidrug resistance. Also, being a problematic BCS class IV drug, it poses challenges for the formulators. Henceforth, it was envisioned to synthesize an analogue of DTX with a biocompatible lipid, i.e., palmitic acid. The in-silico studies (molecular docking a...
Source: International Journal of Pharmaceutics - Category: Drugs & Pharmacology Source Type: research
Johnson&Johnson Chief Executive Alex Gorsky on Monday faced questions from plaintiffs lawyers over the timing of his sale of company stock, as he testified for the first time in a jury trial over allegations that the company's Baby Powder causes cancer. Gorsky told the jury that he had sold company shares in November 2018, two days after a Reuters reporter contacted the company and summarized in an email her review of documents that showed J&J knew small amou
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
Publication date: Available online 27 January 2020Source: Cancer GeneticsAuthor(s): Katsuya Yamamoto, Kimikazu Yakushijin, Mitsuhiro Ito, Hideaki Goto, Ako Higashime, Kazuyoshi Kajimoto, Yoshitake Hayashi, Hiroshi Matsuoka, Hironobu MinamiAbstractIn multiple myeloma (MM), MYC rearrangements that result in increased MYC expression are associated with an aggressive form of MM and adverse outcome. However, the consequences of MYC amplification in MM remain unclear. Here, we describe an unusual case of plasma cell leukemia (PCL) harboring MYC amplification on double minute chromosomes (dmin). A 79-year-old woman was initially ...
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research
ConclusionWhile a timely work-up of advanced PC patients remains important, delays in treatment initiation due to repeated biopsies, inclusion in a clinical study or transfer to a specialized cancer center appear to be justified in light of the absence of a strong adverse effect of prolonged TTI on prognosis in advanced PC patients.
Source: Journal of Cancer Research and Clinical Oncology - Category: Cancer & Oncology Source Type: research
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