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...
Authors: Mascitti M, Togni L, Rubini C, Troiano G, Lo Muzio L, Santarelli A Abstract Oral squamous cell carcinoma is the most common head and neck malignancy, characterised by high invasive capacity, lymph node metastasis, and high recurrence rate. Among the morphological features of oral cancer, the tumour-associated tissue eosinophilia has gained growing interest in the last years. Eosinophils are a minor subpopulation of leukocytes, representing 1-3% of all circulating white blood cells. The presence of high levels of eosinophils is associated with several diseases, but their role in cancer pathophysiology is co...
In conclusion, this study suggests that occupations and industries still impact men and women's health in terms of mortality due to gastric cancer in Japan. PMID: 32981909 [PubMed - as supplied by publisher]
Conclusions: Cancer prevention programs are greatly needed for PIs in HI. This study provides knowledge concerning the efficiency of RDS to recruit participants, and the role of culture in communications influencing cancer risk behaviors, which may be generalizable to migrant PIs in the United States. PMID: 32989359 [PubMed - in process]
Conclusions: Among a simulated cohort of US Black women, the recommended 4+mm ET threshold to trigger diagnostic biopsy for EC diagnosis performed poorly, with more than 50% of cases missed and an 8-fold higher frequency of false negative results than reported for the general population. PMID: 32989354 [PubMed - in process]
Conclusions: A recommendation by a health care provider may be not enough to motivate Latina immigrant mothers to vaccinate their daughters. Further efforts should focus on increasing awareness regarding HPV and cervical cancer, heightening perceived risk of HPV infection among daughters and boosting self-efficacy to get their children vaccinated against HPV. PMID: 32989366 [PubMed - in process]
Publication date: Available online 29 September 2020Source: Biochimica et Biophysica Acta (BBA) - Molecular Cell ResearchAuthor(s): Yujie Shi, Zhikun Ma, Qiong Cheng, Yudan Wu, Amanda B. Parris, Lingfei Kong, Xiaohe Yang
Conclusion: LINC00665 knockdown inhibited BC cell proliferation and invasion by binding miR-3619-5p and inhibiting β-catenin expression. PMID: 32983239 [PubMed - in process]
Publication date: Available online 29 September 2020Source: Chemico-Biological InteractionsAuthor(s): Jaya Prakash Golla, Aikaterini Kandyliari, Tan Wan Ying, Ying Chen, David J. Orlicky, David C. Thompson, Yatrik M. Shah, Vasilis Vasiliou
Publication date: Available online 30 September 2020Source: Chinese Chemical LettersAuthor(s): Chunmeng Ma, Jinlong Zhang, Yuan Zhang, Chen Ma, Minrui Ma, Fanpeng Ran, Xiaoyan Liu, Haixia Zhang
Chem. Commun., 2020, Accepted Manuscript DOI: 10.1039/D0CC05039C, CommunicationMingguang Ren, Qingyu Xu, Shoujuan Wang, Lu Liu, Fangong Kong A cancer cell targeted fluorescent viscosity probe has been designed and synthesized to specifically visualise viscosity changes in biotin receptor (BiR) positive cells over biotin negative cells by dual-mode fluorescence... The content of this RSS Feed (c) The Royal Society of Chemistry
More News: Anemia | Babies | Babies Heart Conditions | Brain | Brain Cancers | Cancer | Cancer & Oncology | Cardiology | Child Development | Childhood Cancer | Children | Conferences | Databases & Libraries | Education | Emergency Medicine | Gaucher's Disease | Gene Therapy | Genetics | Heart | Hepatomegaly | Hospitals | Intensive Care | Learning | Liver | Neurology | Niemann-Pick Disease | Palliative | Palliative Care | Pancytopenia | Pediatrics | Rare Diseases | Respiratory Medicine | Thrombocytopenia | Universities & Medical Training | Urology & Nephrology