Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

ConclusionOur findings show that (a) both simple and complex unbalanced rearrangements may result by the recombination of a cryptic parental balanced chromothripsis and that (b) insertional translocations are the spy of more complex rearrangements and not simply a three ‐breakpoint event.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Exposure to insoluble particles in the lung elicits inflammatory responses that eliminate deposited particulates and repair damaged tissue. Overzealous or prolonged responses lead to chronic conditions, such as fibrosis and malignancy, which are frequently progressive and refractory to drug therapy leading to high rates of disability and mortality. The molecular events underlying the progression of lung inflammation to chronic pathology, in particular, the conversion to fibrosis, remain poorly understood. Fibrogenic multi-walled carbon nanotubes (MWCNTs) have been shown to stimulate prominent acute inflammation that evolve...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
We examined human lung tissue from COPD patients and normal control subjects, and found a substantial increase in p16-expressing alveolar cells in COPD patients. Using a transgenic mouse deficient for p16, we demonstrated that lungs of mice lacking p16 were structurally and functionally resistant to CS-induced emphysema due to activation of IGF1/Akt regenerative and protective signaling. Fat Tissue Surrounds Skeletal Muscle to Accelerate Atrophy in Aging and Obesity https://www.fightaging.org/archives/2019/09/fat-tissue-surrounds-skeletal-muscle-to-accelerate-atrophy-in-aging-and-obesity/ Researchers her...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
In this study, the cerebral-protective effect of crocin was evaluated on a rat transient middle cerebral artery occlusion (MCAO) model. Our data showed that oral administration of crocin had better effectiveness in cerebral protection than an intravenous injection. Neither crocin nor its metabolite crocetin were determined in the brain of cerebral I/R rats, indicating a target site of periphery. Abundant crocetin was detected in plasma after oral administration instead of intravenous injection of crocin. Meanwhile, orally administered crocetin showed similar cerebral protection to that of crocin, but this exciting effect w...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Laura Stronati1, Francesca Palone2, Anna Negroni3, Eleonora Colantoni2, Anna Barbara Mancuso2, Salvatore Cucchiara2, Vincenzo Cesi3, Sara Isoldi2 and Roberta Vitali3* 1Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy 2Pediatric Gastroenterology and Liver Unit, Department of Pediatrics, Sapienza University of Rome, Rome, Italy 3Division of Health Protection Technologies, Territorial and Production Systems Sustainability Department, ENEA, Rome, Italy Gut mucosal healing (MH) is considered a key therapeutic target and prognostic parameter in the management of inflammatory bowel disease (I...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Conclusions Stroke comprises ischemic stroke and ICH. The immuno-inflammatory process is involved in neural plasticity following events such as a hemorrhage or ischemic stroke. After ischemia, astrocytes, microglia, and MDMs play important roles during rehabilitation with the modulation of cytokines or chemokines, such as TNF-α and IL-1. Moreover, MiRNAs are also important posttranscriptional regulators in these glial mitochondrial responses to cerebral ischemia. ICH involves processes similar and different to those seen in ischemia, including neuronal injury, astrocytic and microglial/macrophage activation, and neu...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
This study is the culmination of a decade of research that has repeatedly demonstrated that this vaccine can effectively and safely target in animal models what we think may cause Alzheimer's disease. I believe we're getting close to testing this therapy in people." Although earlier research established that antibodies significantly reduce amyloid buildup in the brain, researchers needed to find a safe way to introduce them into the body. A vaccine developed elsewhere showed promise in the early 2000s, but when tested in humans, it caused brain swelling in some patients. The new idea was to start with DNA codin...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Fight Aging! provides a weekly digest of news and commentary for thousands of subscribers interested in the latest longevity science: progress towards the medical control of aging in order to prevent age-related frailty, suffering, and disease, as well as improvements in the present understanding of what works and what doesn't work when it comes to extending healthy life. Expect to see summaries of recent advances in medical research, news from the scientific community, advocacy and fundraising initiatives to help speed work on the repair and reversal of aging, links to online resources, and much more. This content is...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
This study cohort is a healthy subset of the EpiPath cohort, excluding all participants with acute or chronic diseases. With a mediation analysis we examined whether CMV titers may account for immunosenescence observed in ELA. In this study, we have shown that ELA is associated with higher levels of T cell senescence in healthy participants. Not only did we find a higher number of senescent cells (CD57+), these cells also expressed higher levels of CD57, a cell surface marker for senescence, and were more cytotoxic in ELA compared to controls. Control participants with high CMV titers showed a higher number of senes...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Sepsis and consequent septic shock occur more frequently in the old and cause greater harm and mortality in older individuals. The condition occurs when an infection spurs the immune system into a state of runaway inflammation and then shutdown, sufficient to disrupt or permanently damage metabolism and organ function. The open access paper here dives into the details of age-related immune system dysfunction, with an eye to explaining why exactly these failures cause sepsis to be both worse and more prevalent in the elderly. As for so many of the specific frailties of old age, the best solution is to repair the immune syst...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
Conclusions: Peroral arsenic has little effect on local airway immune responses to bacteria but compromises respiratory epithelial barrier integrity, increasing systemic translocation of inhaled pathogens and small molecules. https://doi.org/10.1289/EHP1878 Received: 09 March 2017 Revised: 14 August 2017 Accepted: 16 August 2017 Published: 28 September 2017 Address correspondence to M.B. Fessler, National Institute of Environmental Health Sciences, 111 T.W. Alexander Dr., P.O. Box 12233, Maildrop D2-01, Research Triangle Park, NC 27709 USA. Telephone: (919) 541-3701. Email: fesslerm@niehs.nih.gov *Current address: UN...
Source: EHP Research - Category: Environmental Health Authors: Tags: Research Source Type: research
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