Aplastic anemia or dyskeratosis congenita? Unclear diagnosis forces a difficult decision
Having a child diagnosed with a life-threatening illness is heart-wrenching for all parents, but when the diagnosis itself is uncertain, parents can face excruciatingly difficult decisions. This is what Katie and Josh Stevens of Idaho confronted after their son Riley was diagnosed in October 2012 with the blood disorder aplastic anemia, in which the body’s bone marrow produces too few oxygen-carrying red blood cells, too few infection-fighting white blood cells and too few clot-promoting platelets. He was an 11-year-old skier and runner who was tired, bruised and unable to shake a cold. When his blood was drawn, he became pale, and his lips turned blue. So Riley began a course of medications to suppress his immune system, but he had only a minimal response to the therapy. He needed a stem cell transplant. Further testing at Seattle Children’s revealed Riley had shortened telomeres, or ends of chromosones, which stymied cells’ ability to regenerate. This is characteristic of another rare bone marrow failure syndrome called dyskeratosis congenita (DC), but Riley did not manifest other telltale signs of DC such as white spots in the mouth, lacy rash around the neck and brittle nails. Katie and Josh would need to decide between two very different stem cell transplant options. Riley’s stem cell transplant options The lack of clarity about the diagnosis left Riley’s parents with an important, but difficult decision: Should their son undergo the st...
Publication date: Available online 4 April 2020Source: Radiation Physics and ChemistryAuthor(s): B. Juste, R. Miró, S. Morató, G. Verdú, S. Peris
Publication date: Available online 5 April 2020Source: Journal of Molecular StructureAuthor(s): T. Valarmathi, R. Premkumar, A. Milton Franklin Benial
Publication date: Available online 4 April 2020Source: Redox BiologyAuthor(s): Raúl González, María A. Rodríguez-Hernández, María Negrete, Kalina Ranguelova, Aurelie Rossin, Carmen Choya-Foces, Patricia de la Cruz-Ojeda, Antonio Miranda-Vizuete, Antonio Martínez-Ruiz, Sergio Rius-Pérez, Juan Sastre, José A. Bárcena, Anne-Odile Hueber, C. Alicia Padilla, Jordi Muntané
CONCLUSIONS: This study suggests that MTC is a more immunologically active tumor that has been previously reported. Patients with advanced MTC should be screened for targetable antigens and immune checkpoints to determine their eligibility for current clinical trials. Additional studies are necessary to fully characterize the antigenic potential of MTC and may encourage the development of adoptive T cells therapies for this rare tumor. PMID: 32242507 [PubMed - as supplied by publisher]
Publication date: Available online 4 April 2020Source: Journal of Environmental PsychologyAuthor(s): Kati Peditto, Mardelle Shepley, Naomi Sachs, Jane Mendle, Anthony Burrow
Dr. Matija Snuderl, neuropathologist and molecular pathologist at New York University Langone Health, was featured ina recent article appearing inNature (March 26, 2020, Vol 579, p S14-S16). The article, which addresses the use of artificial intelligence (AI) in cancer diagnostics, opens with Dr. Snuderl experiencing a moment that many of us neuropathologists have had wherein we hesitate before signing out a case because of a feeling that something might be just a bit different about a particular specimen. That feeling prompts us to do something else (run more ancillary testing, get a consult, sleep on it and ta...
Publication date: Available online 5 April 2020Source: Journal of Dental SciencesAuthor(s): Xijiao Zheng, Xia Tian, Qiao Zhang, Ping Shi, Shu Li
Publication date: Available online 5 April 2020Source: Journal of Dental SciencesAuthor(s): Yan Chen, Xinzhu Li, Jingyi Wu, Wanyu Lu, Wenan Xu, Buling Wu
This study delves into the mechanisms by which a short period of fasting can accelerate wound healing. Fasting triggers many of the same cellular stress responses, such as upregulated autophagy, as occur during the practice of calorie restriction. It isn't exactly the same, however, so it is always worth asking whether any specific biochemistry observed in either case does in fact occur in both situations. In particular, the period of refeeding following fasting appears to have beneficial effects that are distinct from those that occur while food is restricted. Multiple forms of therapeutic fasting have been repor...
CONCLUSIONS: PMR patients with long-term normal APR seem to be a milder subset of PMR in clinical presentation and prognosis. Additionally, our data also suggest there is a subgroup with normal APR who are caught early in the disease. Misdiagnosis does not appear to play a role. PMID: 32242804 [PubMed - as supplied by publisher]
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