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20:25 EDT 19th March 2018 | BioPortfolio

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Showing "Blizzard McCarthy Nabers" PubMed Articles, all 9

Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.

Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pathway.

Worked at Home During the Blizzard? Not Nurses.

: Updated several times a week with posts by a wide variety of authors, AJN's blog Off the Charts allows us to provide more timely-and often more personal-perspectives on professional, policy, and clinical issues. Best of the Blog will be a regular column to draw the attention of AJN readers to posts we think deserve a wider audience. To read more, please visit:

Aggregated responses of human mobility to severe winter storms: An empirical study.

Increasing frequency of extreme winter storms has resulted in costly damages and a disruptive impact on the northeastern United States. It is important to understand human mobility patterns during such storms for disaster preparation and relief operations. We investigated the effects of severe winter storms on human mobility during a 2015 blizzard using 2.69 million Twitter geolocations. We found that displacements of different trip distances and radii of gyration of individuals' mobility were perturbed sig...

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....

Intraoral Prosthetic Chin Augmentation With Vertical Incisions.

To explore a new surgical approach for chin augmentation using a prosthesis with 3 intraoral vertical incisions whereby placement of the prosthesis is more convenient and accurate, with fewer postoperative complications. Following the anatomic characteristics of the chin, a bilateral mucosal vertical incision and a median observation incision are made. The V-shaped mark on the upper side of the prosthesis can be seen through the observation incision after it is placed from the lateral incision into the pred...

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...

Labeling the lines: A test of a six-mechanism model of chromatic detection.

Six linear chromatic mechanisms are sufficient to account for the pattern of threshold elevations produced by chromatic noise masking in the (L,M) plane of cone space (Shepard, Swanson, McCarthy, & Eskew, 2016). Here, we report results of asymmetric color matching of the threshold-level tests from that detection study and use those matches to test the detection model. We assume the mechanisms are univariant labeled lines (Rushton, 1972; Watson & Robson, 1981), implying that the chromaticities of physically ...

The benefits of a Neurogenetics clinic in an adult Academic Teaching Hospital.

Genetics is the backbone of Neurology, where a number of disorders have a genetic aetiology and are complex, requiring a dedicated Neurogenetics clinic. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe. In November 2014, we established the monthly adult Neurogenetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality. We see patients with complex rare neurological conditions that may potentially h...

Prenatal co-exposure to neurotoxic metals and neurodevelopment in preschool children: The Environment and Childhood (INMA) Project.

We sought to determine whether prenatal co-exposure to As, Cd, Hg, Mn, and Pb was associated with impaired neurodevelopment in preschool children from the Spanish Environment and Childhood (INMA) Project, using the placenta as exposure matrix. We measured metal levels in placenta tissue samples randomly selected from five of the seven population-based birth cohorts participating in the INMA Project, collected between 2000 and 2008. Neuropsychological assessment of cognitive and motor function was carried th...

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