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K L Ostrow, A L Bergner, J Blakeley, D G Evans, R Ferner, J M Friedman, G J Harris, J T Jordan, B Korf, S Langmead, G Leschziner, V Mautner, V L Merker, L Papi, S R Plotkin, J M Slopis, M J Smith, A Stemmer-Rachamimov, K Yohay, A J Belzberg
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered...
October 19, 2016: American Journal of Medical Genetics. Part A
Benjamin Plotkin, Srihari C Sampath, Srinath C Sampath, Kambiz Motamedi
The tendons of the wrist are commonly symptomatic. They can be injured, infected, or inflamed. Magnetic resonance imaging and ultrasonography are useful tools for evaluating the wrist. Pathologic conditions of the wrist tendons include de Quervain tenosynovitis, extensor carpi ulnaris tendinopathy, rheumatoid tenosynovitis, infectious synovitis, tendon tears, hydroxyapatite deposition disease, intersection syndrome, tenosynovial giant cell tumor, and fibroma of the tendon sheath. In this article, we review the normal appearance of the wrist tendons, discuss relevant anatomy, and give an overview of common pathologic conditions affecting the wrist tendons...
October 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
J Delgado-Calle, X Tu, R Pacheco-Costa, K McAndrews, R Edwards, G Pellegrini, K Kuhlenschmidt, N Olivos, A Robling, M Peacock, L I Plotkin, T Bellido
Osteocytes integrate the responses of bone to mechanical and hormonal stimuli by mechanisms poorly understood. We report here that mice with conditional deletion of the parathyroid hormone (PTH) receptor 1 (Pth1r) in DMP1-8kb-expressing cells (cKO) exhibit a modest decrease in bone resorption leading to a mild increase in cancellous bone without changes in cortical bone. However, bone resorption in response to endogenous chronic elevation of PTH in growing or adult cKO mice induced by a low calcium diet remained intact, as the increased bone remodeling and bone loss was indistinguishable from that exhibited by control littermates...
October 5, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Marta Maycas, Kevin A McAndrews, Amy Y Sato, Gretel G Pellegrini, Drew M Brown, Matthew R Allen, Lilian I Plotkin, Arancha R Gortazar, Pedro Esbrit, Teresita Bellido
There is an unmet need to understand the mechanisms underlying skeletal deterioration in diabetes mellitus (DM) and to develop therapeutic approaches to treat bone fragility in diabetic patients. We demonstrate herein that mice with type 1 DM induced by streptozotocin exhibited low bone mass, inferior mechanical and material properties, increased bone resorption, decreased bone formation, increased apoptosis of osteocytes, and increased expression of the osteocyte-derived bone formation inhibitor Sost/sclerostin...
September 28, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Daniel A Plotkin, James E Spar, Howard L Horwitz
A claim of undue influence (UI) often figures prominently in will and trust contests and in other legal matters. Mental health professionals (MHPs) are frequently asked to provide expert opinions on UI, but the task is challenging, because of the lack of a clear definition of UI, and conflicting and contradictory recommendations in the literature on the specific conduct of the MHP in rendering opinions on UI. Recently, however, a California statutory scheme on UI applicable in will, trust, conservatorship, and financial elder abuse cases was adopted, bringing greater clarity to the meaning of the construct...
September 2016: Journal of the American Academy of Psychiatry and the Law
Ludmila Perelygina, Stanley Plotkin, Pierre Russo, Timo Hautala, Francisco Bonilla, Hans D Ochs, Avni Joshi, John Routes, Kiran Patel, Claudia Wehr, Joseph Icenogle, Kathleen E Sullivan
No abstract text is available yet for this article.
August 31, 2016: Journal of Allergy and Clinical Immunology
Stanley A Plotkin
The worst recent failure to use an effective vaccine, in my view, has been the lack of prophylaxis against Lyme disease, although the low rate of complete vaccination against the human papillomaviruses is also in competition for this dubious honor. The Centers for Disease Control and Prevention..
September 8, 2016: New England Journal of Medicine
Marie Y Davis, Catherine O Johnson, James B Leverenz, Daniel Weintraub, John Q Trojanowski, Alice Chen-Plotkin, Vivianna M Van Deerlin, Joseph F Quinn, Kathryn A Chung, Amie L Peterson-Hiller, Liana S Rosenthal, Ted M Dawson, Marilyn S Albert, Jennifer G Goldman, Glenn T Stebbins, Bryan Bernard, Zbigniew K Wszolek, Owen A Ross, Dennis W Dickson, David Eidelberg, Paul J Mattis, Martin Niethammer, Dora Yearout, Shu-Ching Hu, Brenna A Cholerton, Megan Smith, Ignacio F Mata, Thomas J Montine, Karen L Edwards, Cyrus P Zabetian
Importance: Parkinson disease (PD) is heterogeneous in symptom manifestation and rate of progression. Identifying factors that influence disease progression could provide mechanistic insight, improve prognostic accuracy, and elucidate novel therapeutic targets. Objective: To determine whether GBA mutations and the E326K polymorphism modify PD symptom progression. Design, Setting, and Participants: The entire GBA coding region was screened for mutations and E326K in 740 patients with PD enrolled at 7 sites from the PD Cognitive Genetics Consortium...
October 1, 2016: JAMA Neurology
Dorica Boyee, Erin Peacock, Marya Plotkin, Augustino Hellar, Hally Mahler, Elizabeth Edouard, Renatus Kisendi, Erick Mlanga, Emmanuel Njeuhmeli, Katherine Andrinopoulos
Uncircumcised adolescent males in sub-Saharan Africa are an important group to reach with voluntary medical male circumcision (VMMC) services due to high HIV burden occurring among this age group. Appropriateness of the content and delivery of sexual health and HIV prevention messages to adolescent VMMC clients has not been extensively described. A study was conducted in Tanzania to examine quality, delivery and content of messages provided to adolescent (aged 15-19) and adult (aged 20+) VMMC clients (n = 320)...
August 24, 2016: AIDS and Behavior
Dana Feraco, Mary Blaha, Shaza Khan, Jacalyn M Green, Balbina J Plotkin
Biofilm matrix formation is a phenotype linked to the ability to survive a hostile host environment that includes the presence of antimicrobial peptides and serum factors. Multiple hormones and other host derived factors have been shown to function as exogenous quorum signaling compound homologs that inform microbes of their in situ presence, thus triggering a shift from a planktonic to the sessile biofilm phenotype. The focus of this review is to describe the impact various host-derived factors have on the initial steps required for biofilm formation, i...
October 2016: Microbial Pathogenesis
C Oliver Hanemann, Jaishri O Blakeley, Fabio P Nunes, Kent Robertson, Anat Stemmer-Rachamimov, Victor Mautner, Andreas Kurtz, Michael Ferguson, Brigitte C Widemann, D Gareth Evans, Rosalie Ferner, Steven L Carroll, Bruce Korf, Pierre Wolkenstein, Pamela Knight, Scott R Plotkin
OBJECTIVE: Clinically validated biomarkers for neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis (SWN) have not been identified to date. The biomarker working group's goals are to (1) define biomarker needs in NF1, NF2, and SWN; (2) summarize existing data on biomarkers in NF1, NF2, and SWN; (3) outline recommendations for sample collection and biomarker development; and (4) standardize sample collection and methodology protocols where possible to promote comparison between studies by publishing standard operating procedures (SOPs)...
August 16, 2016: Neurology
Shivani Ahlawat, Laura M Fayad, Muhammad Shayan Khan, Miriam A Bredella, Gordon J Harris, D Gareth Evans, Said Farschtschi, Michael A Jacobs, Avneesh Chhabra, Johannes M Salamon, Ralph Wenzel, Victor F Mautner, Eva Dombi, Wenli Cai, Scott R Plotkin, Jaishri O Blakeley
OBJECTIVES: The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease in patients with neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN), to recommend optimal image acquisition and analysis methods to enable WB-MRI as an endpoint in NF clinical trials. METHODS: A systematic process was used to review all published data about WB-MRI in NF syndromes to assess diagnostic accuracy, feasibility and reproducibility, and data about specific techniques for assessment of tumor burden, characterization of neoplasms, and response to therapy...
August 16, 2016: Neurology
Scott R Plotkin, Stephanie D Davis, Kent A Robertson, Srivandana Akshintala, Julian Allen, Michael J Fisher, Jaishri O Blakeley, Brigitte C Widemann, Rosalie E Ferner, Carole L Marcus
OBJECTIVE: Plexiform neurofibromas (PNs) are complex, benign nerve sheath tumors that occur in approximately 25%-50% of individuals with neurofibromatosis type 1 (NF1). PNs that cause airway compromise or pulmonary dysfunction are uncommon but clinically important. Because improvement in sleep quality or airway function represents direct clinical benefit, measures of sleep and pulmonary function may be more meaningful than tumor size as endpoints in therapeutic clinical trials targeting airway PN...
August 16, 2016: Neurology
Stuart P Adler, Anne-Marie Manganello, Ronzo Lee, Michael A McVoy, Daniel E Nixon, Stanley Plotkin, Edward Mocarski, Josephine H Cox, Patricia E Fast, Pavlo A Nesterenko, Susan E Murray, Ann B Hill, George Kemble
BACKGROUND:  Cytomegalovirus (HCMV) infection causes disease in newborns and transplant recipients. A HCMV vaccine (Towne) protects transplant recipients. METHODS:  The genomes of Towne and unattenuated Toledo strain were recombined yielding four Towne/Toledo chimera vaccines. Each of 36 HCMV-seronegative men received one subcutaneous dose at 10, 100, or 1000 pfu in cohorts of three. Safety and immunogenicity were evaluated over 12 weeks post-immunization and 52 weeks for those seroconverting...
August 11, 2016: Journal of Infectious Diseases
Eric G Vajda, Douglas Logan, Kenneth Lasseter, Danielle Armas, Diane J Plotkin, J D Pipkin, Yong-Xi Li, Rong Zhou, David Klein, Xiaoxiong Wei, Stacy Dilzer, Lin Zhi, Keith B Marschke
AIM: To evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of single and multiple doses of a novel, oral glucagon receptor antagonist, LGD-6972, in healthy subjects and subjects with type 2 diabetes (T2DM). METHODS: In the single ascending dose study, LGD-6972 (2 to 480 mg) was administered to healthy subjects (n = 48) and T2DM subjects (n = 8). In the multiple ascending dose study, healthy subjects (n = 12) received a dose of 15 mg LGD-6972 and T2DM subjects (n = 36) received doses of 5, 10 or 15 mg of LGD-6972 daily for 14 days...
August 8, 2016: Diabetes, Obesity & Metabolism
Balbina J Plotkin, Ira M Sigar, Vaibhav Tiwari, Scott Halkyard
The study of polymicrobial interactions across the taxonomic kingdoms that include fungi, bacteria and virus have not been previously examined with respect to how viral members of the microbiome affect subsequent microbe interactions with these virus-infected host cells. The co-habitation of virus with bacteria and fungi is principally present on the mucosal surfaces of the oral cavity and genital tract. Mucosal cells, particularly those with persistent chronic or persistent latent viral infections, could have a significant impact on members of the microbiome through virus alteration in number and type of receptors expressed...
2016: Journal of Visualized Experiments: JoVE
Mitchell G Newberry, David M McCandlish, Joshua B Plotkin
Underdominant mutations have fixed between divergent species, yet classical models suggest that rare underdominant alleles are purged quickly except in small or subdivided populations. We predict that underdominant alleles that also influence mate choice, such as those affecting coloration patterns visible to mates and predators alike, can fix more readily. We analyze a mechanistic model of positive assortative mating in which individuals have n chances to sample compatible mates. This one-parameter model naturally spans random mating (n=1) and complete assortment (n→∞), yet it produces sexual selection whose strength depends non-monotonically on n...
August 3, 2016: Theoretical Population Biology
Lilian I Plotkin, Teresita Bellido
No abstract text is available yet for this article.
July 29, 2016: Nature Reviews. Endocrinology
Paulo Ricardo Mouro, Vinícius de Godoi Contessoto, Jorge Chahine, Ronaldo Junio de Oliveira, Vitor Barbanti Pereira Leite
Protein folding is a central problem in biological physics. Energetic roughness is an important aspect that controls protein-folding stability and kinetics. The roughness is associated with conflicting interactions in the protein and is also known as frustration. Recent studies indicate that an addition of a small amount of energetic frustration may enhance folding speed for certain proteins. In this study, we have investigated the conditions under which frustration increases the folding rate. We used a Cα structure-based model to simulate a group of proteins...
July 26, 2016: Biophysical Journal
Ana-Maria Vranceanu, Eric Riklin, Vanessa L Merker, Eric A Macklin, Elyse R Park, Scott R Plotkin
OBJECTIVE: To test, within a single-blind randomized controlled trial, the feasibility, acceptability, efficacy, and durability of a mind-body program (the Relaxation Response Resiliency Program for neurofibromatosis [3RP-NF]) vs an attention placebo control (Health Enhancement Program for NF [HEP-NF]), both delivered via group videoconferencing. METHODS: Sixty-three patients completed baseline assessments and were randomized. Primary outcomes were physical health and psychological quality of life (QoL), measured by the WHOQOL-BREF (World Health Organization QoL abbreviated instrument)...
August 23, 2016: Neurology
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