PubMed Journals Articles About "Blizzard McCarthy Nabers" RSS

22:45 EDT 21st October 2017 | BioPortfolio

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Showing "Blizzard McCarthy Nabers" PubMed Articles, all 4

Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome.

Sensorineural hearing loss (SNHL) occurs in more than 80% of cases of Johanson Blizzard Syndrome (JBS). However, limited knowledge exists in medical literature of cochlear implantation (CI) outcomes in children with JBS. We report the case of a 5 year-old male with JBS and bilateral CI. While minimal progress in spoken language scores was noted after 4 years of bilateral CI use, substantial improvements in discrimination of speech sounds and audibility of spoken language and environmental sounds were docume...

Ingeborg Syllm-Rapoport (1912-2017): An Exemplary Life for Children and Paediatrics.

Ingeborg Syllm-Rapoport, the first Chair in neonatology in Europe, passed away on March 23. Her biography illustrates how medical and scientific work has been influenced by social, ideological, and economic frames and boundaries in the 20th century. Regarded as a "Half-Jew" by the Nazi racist laws, she was denied her medical doctorate. She went to the USA, where she trained in paediatrics and met her husband, the biochemist Samuel Mitja Rapoport. During the "McCarthy Era" both were persecuted as communists....

Could autophagy induced by misfolded mutant alpha-1-antitrypsin Z in synovitis explain the association of ATZ with increased ACPA production in RA?

We read with interest the paper "Genetic variation of the alpha-1-antitrypsin (AT) gene is associated with increased autoantibody production in rheumatoid arthritis" by McCarthy et al. A strong association between mutant alpha-1-antitrypsin Z (ATZ) and ACPA production was noted in RA (1). The authors suggest that alpha-1-antitrypsin deficiency (ATD) may give rise to a tendency towards ACPA production. We suggest that it is the abnormal mutant protein ATZ itself that induces autophagy resulting in ACPA p...

Endothelial microparticles prevent lipid-induced endothelial damage via Akt/eNOS signaling and reduced oxidative stress.

Endothelial microparticles (EMPs) are endothelium-derived submicron vesicles that are released in response to diverse stimuli and are elevated in cardiovascular disease, which is correlated with risk factors. This study investigates the effect of EMPs on endothelial cell function and dysfunction in a model of free fatty acid (FFA) palmitate-induced oxidative stress. EMPs were generated from TNF-α-stimulated HUVECs and quantified by using flow cytometry. HUVECs were treated with and without palmitate in the...

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