Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

Tuberous sclerosis (TSC) is a heterogeneous trait. Since 1990, linkage studies have yielded putative TSC loci on chromosomes 9, 11, 12 and 16. Our current analysis, performed on 14 Dutch and British families, reveals only evidence for loci on chromosome 9q34 (TSC1) and chromosome 16p13 (TSC2). We have found no indication for a third locus for TSC, linked or unlinked to either of these chromosomal regions. The majority of our families shows linkage to chromosome 9. We have refined the candidate region for TSC1 to a region of approximately 5 c M between ABL and ABO

Characteristics of Early-Onset vs Late-Onset Colorectal Cancer: A Review.

The incidence of early-onset colorectal cancer (younger than 50 years) is rising globally, the reasons for which are unclear. It appears to represent a unique disease process with different clinical, pathological, and molecular characteristics compared with late-onset colorectal cancer. Data on oncological outcomes are limited, and sensitivity to conventional neoadjuvant and adjuvant therapy regimens appear to be unknown. The purpose of this review is to summarize the available literature on early-onset colorectal cancer. Within the next decade, it is estimated that 1 in 10 colon cancers and 1 in 4 rectal cancers will be diagnosed in adults younger than 50 years. Potential risk factors include a Westernized diet, obesity, antibiotic usage, and alterations in the gut microbiome. Although genetic predisposition plays a role, most cases are sporadic. The full spectrum of germline and somatic sequence variations implicated remains unknown. Younger patients typically present with descending colonic or rectal cancer, advanced disease stage, and unfavorable histopathological features. Despite being more likely to receive neoadjuvant and adjuvant therapy, patients with early-onset disease demonstrate comparable oncological outcomes with their older counterparts. The clinicopathological features, underlying molecular profiles, and drivers of early-onset colorectal cancer differ from those of late-onset disease. Standardized, age-specific preventive, screening, diagnostic, and therapeutic strategies are required to optimize outcomes

NCS Assessments of the Motor, Sensory, and Physical Health Domains

As part of the National Children's Study (NCS) comprehensive and longitudinal assessment of the health status of the whole child, scientific teams were convened to recommend assessment measures for the NCS. This manuscript documents the work of three scientific teams who focused on the motor, sensory, or the physical health aspects of this assessment. Each domain team offered a value proposition for the importance of their domain to the health outcomes of the developing infant and child. Constructs within each domain were identified and measures of these constructs proposed. Where available extant assessments were identified. Those constructs that were in need of revised or new assessment instruments were identified and described. Recommendations also were made for the age when the assessments should take place. Copyright © 2021 Clark, Pate, Rine, Christy, Dalton, Damiano, Daniels, Holmes, Katzmarzyk, Magasi, McCreery, McIver, Newell, Sanger, Sugden, Taveras and Hirschfeld.Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]

Spatially Resolved Genomic, Stable Isotopic, and Lipid Analyses of a Modern Freshwater Microbialite from Cuatro Ciénegas, Mexico

Microbialites are biologically mediated carbonate deposits found in diverse environments worldwide. To explore the organisms and processes involved in microbialite formation, this study integrated genomic, lipid, and both organic and inorganic stable isotopic analyses to examine five discrete depth horizons spanning the surface 25 mm of a modern freshwater microbialite from Cuatro Ciénegas, Mexico. Distinct bacterial communities and geochemical signatures were observed in each microbialite layer. Photoautotrophic organisms accounted for approximately 65% of the sequences in the surface community and produced biomass with distinctive lipid biomarker and isotopic (δ13C) signatures. This photoautotrophic biomass was efficiently degraded in the deeper layers by heterotrophic organisms, primarily sulfate-reducing proteobacteria. Two spatially distinct zones of carbonate precipitation were observed within the microbialite, with the first zone corresponding to the phototroph-dominated portion of the microbialite and the second zone associated with the presence of sulfate-reducing heterotrophs. The coupling of photoautotrophic production, heterotrophic decomposition, and remineralization of organic matter led to the incorporation of a characteristic biogenic signature into the inorganic CaCO3 matrix. Overall, spatially resolved multidisciplinary analyses of the microbialite enabled correlations to be made between the distribution of specific organisms, precipitation of carbonate, and preservation of unique lipid and isotopic geochemical signatures. These findings are critical for understanding the formation of modern microbialites and have implications for the interpretation of ancient microbialite records

Prebiotic mannan oligosaccharide diet improves health status of the digestive system of marron, Cherax tenuimanus (Smith, 1912)

The aim of this experiment was to determine the effects of dietary supplementation with mannan oligosaccharide (MOS; BioMos, Alltech, USA) on the gut microbiota and histology of marron, Cherax tenuimanus. Marron were fed six different diets supplemented with 0%, 0.05%, 0.1%, 0.2%, 0.4%, and 0.8% of MOS for a duration of 112 days. Total bacteria in the gut were highest when marron were fed diets which included 0.1% to 0.4% BioMos, whereas total bacteria/Vibrio spp. ratio was highest in the marron fed 0.4% BioMos diet only. The marron fed 0.2% and 0.4% BioMos diets showed normal morphology and higher densities of microvilli, and thicker layer of gut epithelium than other inclusion rates. The results suggest that application of 0.2% to 0.4% of MOS in the diet improves digestive system health in marron