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Scott R Plotkin, Antje Wick
Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families. In this review, clinical presentation, diagnostic criteria, day-to-day management including supportive care as well as updates on genetics, and experimental treatment strategies are discussed...
February 2018: Seminars in Neurology
David J Irwin, Sharon X Xie, David Coughlin, Naomi Nevler, Rizwan S Akhtar, Corey T McMillan, Edward B Lee, David A Wolk, Daniel Weintraub, Alice Chen-Plotkin, John E Duda, Meredith Spindler, Andrew Siderowf, Howard I Hurtig, Leslie M Shaw, Murray Grossman, John Q Trojanowski
OBJECTIVE: To test the association of antemortem CSF biomarkers with postmortem pathology in Lewy body disorders (LBD). METHODS: Patients with autopsy-confirmed LBD (n = 24) and autopsy-confirmed Alzheimer disease (AD) (n = 23) and cognitively normal (n = 36) controls were studied. In LBD, neuropathologic criteria defined Lewy body α-synuclein (SYN) stages with medium/high AD copathology (SYN + AD = 10) and low/no AD copathology (SYN - AD = 14). Ordinal pathology scores for tau, β-amyloid (Aβ), and SYN pathology were averaged across 7 cortical regions to obtain a global cerebral score for each pathology...
February 21, 2018: Neurology
Yingchao Zhao, Pinan Liu, Na Zhang, Jie Chen, Lukas D Landegger, Limeng Wu, Fu Zhao, Yanxia Zhao, Yanling Zhang, Jing Zhang, Takeshi Fujita, Anat Stemmer-Rachamimov, Gino B Ferraro, Hao Liu, Alona Muzikansky, Scott R Plotkin, Konstantina M Stankovic, Rakesh K Jain, Lei Xu
Neurofibromatosis type II (NF2) is a disease that needs new solutions. Vestibular schwannoma (VS) growth causes progressive hearing loss, and the standard treatment, including surgery and radiotherapy, can further damage the nerve. There is an urgent need to identify an adjunct therapy that, by enhancing the efficacy of radiation, can help lower the radiation dose and preserve hearing. The mechanisms underlying deafness in NF2 are still unclear. One of the major limitations in studying tumor-induced hearing loss is the lack of mouse models that allow hearing testing...
February 9, 2018: Proceedings of the National Academy of Sciences of the United States of America
Balbina J Plotkin, James W Davis, Luigi Strizzi, Peter Lee, Jayme Christoffersen-Cebi, Joan Kacmar, Orlando J Rivero, Norhan Elsayed, Nicholas Zanghi, Brent Ito, Ira M Sigar
The center of tumors, stem cell niches and mucosal surfaces all represent areas of the body that are reported to be anoxic. However, long-term study of anoxic cell physiology is hindered by the lack of a sustainable method permitting cell cultivation in the complete absence of oxygen. A novel methodology was developed that enabled anoxic cell cultivation (17d maximum time tested) and cell passage. In the absence of oxygen, cell morphology is significantly altered. All cells tested exhibited morphologic changes, i...
February 2018: Tissue & Cell
Mona Habibi, Steven S Plotkin, Jörg Rottler
We investigate the correlation between soft vibrational modes and unfolding events in simulated force spectroscopy of proteins. Unfolding trajectories are obtained from molecular dynamics simulations of a Gō model of a monomer of a mutant of superoxide dismutase 1 protein containing all heavy atoms in the protein, and a normal mode analysis is performed based on the anisotropic network model. We show that a softness map constructed from the superposition of the amplitudes of localized soft modes correlates with unfolding events at different stages of the unfolding process...
February 6, 2018: Biophysical Journal
Justus Berger, Michail Plotkin, Katharina Demin, Martin Holtkamp, Thomas Bengner
Structural and metabolic abnormalities of the temporal lobe are frequently found in temporal lobe epilepsy (TLE). In the present retrospective study, we investigated whether structural abnormalities evident in magnetic resonance imaging (MRI) and hypometabolism evident in [18F]fluorodeoxyglucose positron emission tomography (FDG-PET) independently influence verbal and nonverbal learning and delayed memory in patients with TLE. Sixty-eight patients with refractory unilateral TLE (35 left TLE, 33 right TLE) were divided into three groups: (1) no evidence of pathology in either MRI or FDG-PET studies (MRI-/PET-, n=15), (2) temporal FDG-PET determined hypometabolism with normal MRI findings (MRI-/PET+, n=21), and (3) evidence of temporal abnormalities in both MRI and FDG-PET studies (MRI+/PET+, n=32)...
January 24, 2018: Epilepsy & Behavior: E&B
Robert S Baltimore, Katherine Nimkin, Katherine A Sparger, Virginia M Pierce, Stanley A Plotkin
No abstract text is available yet for this article.
February 8, 2018: New England Journal of Medicine
Justin T Jordan, Miriam J Smith, James A Walker, Serkan Erdin, Michael E Talkowski, Vanessa L Merker, Vijaya Ramesh, Wenli Cai, Gordon J Harris, Miriam A Bredella, Marlon Seijo, Alessandra Suuberg, James F Gusella, Scott R Plotkin
Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain subscale.We identified a germline mutation in LZTR1 in 5 patients (13.5%) and SMARCB1 in 15 patients (40.5%), but found no germline mutation in 17 patients (45...
February 2018: Medicine (Baltimore)
Carlos Parra-Herran, Matthew Cesari, Bojana Djordjevic, Katherine Grondin, Mary Kinloch, Martin Köbel, Amrah Pirzada, Anna Plotkin, C Blake Gilks
Standardized terminology has proven benefits in cancer reporting; in contrast, reporting of benign diagnoses in endometrial biopsy currently lacks such standardization. Unification and update on the lexicon can provide the structure and consistency needed for optimal patient care and quality assurance purposes. The Special Interest Group in Gynecologic Pathology of the Canadian Association of Pathologists-Association Canadienne des Pathologistes (CAP-ACP) embarked in an initiative to address the current need for consensus terminology in benign endometrial biopsy pathology reporting...
January 24, 2018: International Journal of Gynecological Pathology
Sallie R Permar, Mark R Schleiss, Stanley A Plotkin
Human cytomegalovirus (HCMV) is the most common congenitally transmitted pathogen worldwide, impacting an estimated 1 million newborns annually. Congenital HCMV (cCMV) infection is a major global contributor to long-term neurologic deficits, including deafness, microcephaly, neurodevelopmental delay, as well as fetal loss and occasional infant mortality. Accordingly, a maternal vaccine to prevent cCMV continues to be a top public health priority. Nevertheless, we remain without a licensed vaccine. Maternal immunity provides partial protection, as the risk of vertical HCMV transmission from chronically infected mothers is reduced compared to settings in which the mother is newly infected during pregnancy...
January 17, 2018: Journal of Virology
Michalle Soudack, Semion Plotkin, Aviva Ben-Shlush, Lisa Raviv-Zilka, Jeffrey M Jacobson, Michael Benacon, Arie Augarten
BACKGROUND: Opinions differ as to the need of a lateral radiograph for diagnosing community acquired pneumonia in children referred to the emergency department. A lateral radiograph increases the ionizing radiation burden but at the same time may improve specificity and sensitivity in this population. OBJECTIVES: To determine the value of the frontal and lateral chest radiographs compared to frontal view stand-alone images for the management of children with suspected community acquired pneumonia seen in a pediatric emergency department...
January 2018: Israel Medical Association Journal: IMAJ
Stanley A Plotkin
No abstract text is available yet for this article.
December 14, 2017: New England Journal of Medicine
Peter F Wright, Margaret E Ackerman, Elizabeth B Brickley
The 2017 Stanley A. Plotkin Lecture in Vaccinology was delivered by Professor Peter F. Wright at the Pediatric Academic Societies Annual Meeting in San Francisco, California, in May 2017. The presentation provided an overview of the mucosal immune system as it applies to vaccinology. Specifically, Professor Wright's lecture highlighted the remarkable opportunities for mucosal immunity research afforded by having both topically administered live vaccines and systemically administered inactivated vaccines available for the same pathogen...
December 22, 2017: Journal of the Pediatric Infectious Diseases Society
Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P Barnett, Troy A Becker, Shay Ben-Shachar, Debora R Bertola, Jaishri O Blakeley, Emma M M Burkitt-Wright, Alison Callaway, Melissa Crenshaw, Karin S Cunha, Mitch Cunningham, Maria D D'Agostino, Karin Dahan, Alessandro De Luca, Anne Destrée, Radhika Dhamija, Marica Eoli, D Gareth R Evans, Patricia Galvin-Parton, Jaya K George-Abraham, Karen W Gripp, Jose Guevara-Campos, Neil A Hanchard, Concepcion Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi J Jones, Beth A Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy Mendelsohn, David T Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R Plotkin, Dinel Pond, Kenneth Rosenbaum, Karol Rubin, Laura Russell, Lane S Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W Stockton, Eva Trevisson, Nicole J Ullrich, Meena Upadhyaya, Rick van Minkelen, Helene Verhelst, Margaret R Wallace, Yoon-Sim Yap, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martin, Bruce R Korf, Eric Legius, Ludwine M Messiaen
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons-Leu844, Cys845, Ala846, Leu847, and Gly848-located in the cysteine-serine-rich domain (CSRD)...
January 4, 2018: American Journal of Human Genetics
Mariano Ben Plotkin
This article lays out an agenda for research on the establishment of psy cultures in Latin America. It begins by analyzing some of the debates on the nature of psychoanalysis, a discipline located between the sciences, philosophy and common sense. It argues that the place of psy cultures needs to be problematized as emerging out of modernity in a cultural space like Latin America, where the very concept of modernity differs greatly from that of central countries.
November 2017: História, Ciências, Saúde—Manguinhos
Galia Plotkin Amrami
This article explores the mechanisms underlying the formation of a new category in the Israeli therapeutic field-"national trauma." By comparing the two different paths of emergence of this category, the research reexamines the meaning of Hacking's concept "looping effect" and, in particular, the issue of awareness of the categorized individuals and the categorizing knowledge-producers to the effects of a categorization. This study demonstrates that the formation of "national trauma" is both an intentional product of the efforts and ideology of practitioners and an unintentional outcome of their scientific and interventional activities...
March 1, 2017: Health (London)
Davorka Gulisija, Joshua B Plotkin
While theory offers clear predictions for when recombination will evolve in changing environments, it is unclear what natural scenarios can generate the necessary conditions. The Red Queen hypothesis provides one such scenario, but it requires antagonistic host-parasite interactions. Here we present a novel scenario for the evolution of recombination in finite populations: the genomic storage effect due to phenotypic plasticity. Using analytic approximations and Monte-Carlo simulations, we demonstrate that balanced polymorphism and recombination evolve between a target locus that codes for a seasonally selected trait and a plasticity modifier locus that modulates the effects of target-locus alleles...
December 11, 2017: Nature Communications
Ovidiu C Andronesi, Morteza Esmaeili, Ronald J H Borra, Kyrre Emblem, Elizabeth R Gerstner, Marco C Pinho, Scott R Plotkin, Andrew S Chi, April F Eichler, Jorg Dietrich, S Percy Ivy, Patrick Y Wen, Dan G Duda, Rakesh Jain, Bruce R Rosen, Gregory A Sorensen, Tracy T Batchelor
Precise assessment of treatment response in glioblastoma during combined anti-angiogenic and chemoradiation remains a challenge. In particular, early detection of treatment response by standard anatomical imaging is confounded by pseudo-response or pseudo-progression. Metabolic changes may be more specific for tumor physiology and less confounded by changes in blood-brain barrier permeability. We hypothesize that metabolic changes probed by magnetic resonance spectroscopic imaging can stratify patient response early during combination therapy...
2017: NPJ Precision Oncology
Alice S Chen-Plotkin
No abstract text is available yet for this article.
January 2018: Nature Reviews. Neurology
Miles A Miller, Eunha Kim, Michael F Cuccarese, Alec L Plotkin, Mark Prytyskach, Rainer H Kohler, Mikael J Pittet, Ralph Weissleder
The receptor tyrosine kinase Mer (MERTK) is a promising drug target in cancer, where it can influence the metastasis-promoting signaling of both tumor cells and immune cells alike; however, no small molecule probes currently exist to selectively image Mer. In this work, we design and synthesize a selective near-infrared fluorescent molecular probe of Mer (MERi-SiR). Confocal microscopy of metastases in mice reveals predominant probe accumulation in Mer-expressing tumor-associated macrophages.
December 19, 2017: Chemical Communications: Chem Comm
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