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"Person, Stephen"
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Walrus : tusk, tusk
Introduces the physical characteristics, behavior, habitat, and migration of walruses, sea mammals that have flippers and tusks.
Book
Corporate sponsorships are very special events
The increased cost of providing recreation services to the community has forced managers to look for new revenue sources. Ways in which corporate sponsorships can be used to offset the costs of special events are discussed.
Magazine Article
Corporate sponsorships are very special events
Corporate sponsorship is an effective way of financing special events such as music festivals and athletic competitions. Park and recreation agencies are already taking advantage of this wonderful resource when holding special events. Guidelines on solicitations for sponsorship are presented.
Magazine Article
common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene in a proband with autism. TMLHE maps to the X chromosome and encodes the first enzyme in carnitine biosynthesis, 6-N-trimethyllysine dioxygenase. Deletion of exon 2 of TMLHE causes enzyme deficiency, resulting in increased substrate concentration (6-N-trimethyllysine) and decreased product levels (3-hydroxy-6-N-trimethyllysine and γ-butyrobetaine) in plasma and urine. TMLHE deficiency is common in control males (24 in 8,787 or 1 in 366) and was not significantly increased in frequency in probands from simplex autism families (9 in 2,904 or 1 in 323). However, it was 2.82-fold more frequent in probands from male-male multiplex autism families compared with controls (7 in 909 or 1 in 130; P = 0.023). Additionally, six of seven autistic male siblings of probands in male-male multiplex families had the deletion, suggesting that TMLHE deficiency is a risk factor for autism (metaanalysis Z-score = 2.90 and P = 0.0037), although with low penetrance (2–4%). These data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.
Journal Article
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Purpose
Pathogenic variants in
SETD1B
have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic
SETD1B
sequence variants. This study aims to further delineate the spectrum of the
SETD1B
-related syndrome based on characterizing an expanded patient cohort.
Methods
We perform an in-depth clinical characterization of a cohort of 36 unpublished individuals with
SETD1B
sequence variants, describing their molecular and phenotypic spectrum. Selected variants were functionally tested using in vitro and genome-wide methylation assays.
Results
Our data present evidence for a loss-of-function mechanism of
SETD1B
variants, resulting in a core clinical phenotype of global developmental delay, language delay including regression, intellectual disability, autism and other behavioral issues, and variable epilepsy phenotypes. Developmental delay appeared to precede seizure onset, suggesting SETD1B dysfunction impacts physiological neurodevelopment even in the absence of epileptic activity. Males are significantly overrepresented and more severely affected, and we speculate that sex-linked traits could affect susceptibility to penetrance and the clinical spectrum of
SETD1B
variants.
Conclusion
Insights from this extensive cohort will facilitate the counseling regarding the molecular and phenotypic landscape of newly diagnosed patients with the
SETD1B
-related syndrome.
Journal Article
War in Ukraine : conflict, strategy, and the return of a fractured world
The war in Ukraine has altered the course of global history. These authors explore how.When Vladimir Putin's forces sought to conquer Ukraine in February 2022, they did more than threaten the survival of a vulnerable democracy. The invasion unleashed a crisis that has changed the course of world affairs. This conflict has reshaped alliances, deepened global cleavages, and caused economic disruptions that continue to reverberate around the globe. It has initiated the first great-power nuclear crisis in decades and raised fundamental questions about the sources of national power and military might in the modern age. The outcome of the conflict will profoundly influence the international balance of power, the relationship between democracies and autocracies, and the rules that govern global affairs. In War in Ukraine, Hal Brands brings together an all-star cast of analysts to assess the conflict's origins, course, and implications and to offer their appraisals of one of the most geopolitically consequential crises of the early twenty-first century. Essays cover topics including the twists and turns of the war itself, the successes and failures of US strategy, the impact of sanctions, the future of Russia and its partnership with China, and more.Contributors: Anne Applebaum, Joshua Baker, Alexander Bick, Hal Brands, Daniel Drezner, Peter Feaver, Lawrence Freedman, Francis Gavin, Brian Hart, William Inboden, Andrea Kendall-Taylor, Michael Kimmage, Michael Kofman, Stephen Kotkin, Mark Leonard, Bonny Lin, Thomas Mahnken, Dara Massicot, Michael McFaul, Robert Person, Kori Schake, and Ashley Tellis.
eBook
The androgen receptor and stem cell pathways in prostate and bladder cancers (Review)
Bladder cancer is three times more common in men than in women. However, the physiological basis of the male predominance of bladder cancer remains poorly understood. A higher than expected association of prostate and bladder cancers has also been reported which may indicate a common mechanism of carcinogenesis. Consistent with this, androgens and the androgen receptor (AR) play essential roles in prostate carcinogenesis and are believed to play a role in bladder carcinogenesis. There is also evidence implicating cancer stem cells in prostate and bladder cancers. Indeed putative prostate and bladder cancer stem cells share some common molecular features. We highlight key proteins (CD49f, CD133, PTEN, CD44) which are implicated in both prostate and bladder cancers and are enriched in putative prostate and bladder cancer stem cells. We examine published chromatin immuno-precipitation studies analyzing the genome-wide distribution of the AR to identify AR association with, and by inference potential AR-regulation of, these loci. We discuss recent evidence indicating a role for the AR in the splicing of the key urological stem cell protein CD44. We propose a model whereby aberrant AR regulation of these putative stem cell proteins contributes to malignant transformation of prostate and bladder cells. For these reasons we propose that the relationship between androgens and cancer stem cell associated proteins warrants further investigation.
Journal Article
New Faces of HIV Infection: Age, Race, and Timing of Entry into HIV Care in the Southeastern United States
Among younger men who have sex with men (MSM), the incidence of HIV is rising nationally. Of the 281 persons who entered into care at a large HIV clinic in the southeastern United States in 2010 to 2012, 78 (27.8%) were <25 years old at the time of diagnosis. Those in the younger group were more likely than those aged ≥25 to be black (59.0% versus 37.4%), MSM (78.2% versus 55.2%), and to have a longer median time from diagnosis to entry into care (71 versus 53 days; P < .05 each). In adjusted survival analysis, persons of black race were less likely to enter care after diagnosis than those of nonblack race (hazard ratio = 0.75, P = .02). Young MSM represent an important target population for prevention and HIV testing interventions, and there is a need to shorten the time from diagnosis to linkage to care, particularly in persons aged <25 and of black race.
Journal Article