Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Leveraging mHealth and Virtual Reality to Improve Cognition for Alzheimer’s Patients: A Systematic Review

Background: Alzheimer’s Disease (AD) is a global problem affecting 58 million people, expected to reach a prevalence of 88 million people by 2050. The disease affects the brain, memory, cognition, language, and motor movement. Many interventions have sought to improve memory and cognition. mHealth and virtual reality (VR) are two such interventions. Objectives: To analyze studies from the last 10 years with older adults with AD to ascertain the effectiveness of telehealth techniques such as mHealth and VR for memory care. Methods: In accordance with the Kruse Protocol and reported in accordance with PRISMA 2020, five reviewers searched four research databases (PubMed, CINAHL, Web of Science, and ScienceDirect) on 3 August 2022 for studies with strong methodologies that fit the objective statement. Results: Twenty-two studies from 13 countries were analyzed for trends. Four interventions (mHealth/eHealth, VR, mHealth + VR, game console, and telephone) used RCT, quasi-experimental, pre-post, observational, and mixed methods. These interventions improved cognition, memory, brain activity, language, depression, attention, vitality, quality of life, cortical atrophy, cerebral blood flow, neuro plasticity, and mental health. Only three interventions reported either no improvements or no statistically significant improvements. Cost, time, training, and low reimbursement were barriers to the adoption of these interventions. Conclusion: mHealth and VR offer interventions with positive effectiveness for memory care for AD. The long-term effect of this improvement is unclear. Additional research is needed in this area to establish clinical practice guidelines

The taphonomic signature of a brine seep and the potential for Burgess Shale style preservation

Unusually fine preservation of soft anatomy in the fossil record, often referred to as Lagerstätte deposits, has led to great advances in understanding the evolution of life. An understanding of the potential environments of deposition that might lead to exquisite preservation may help to reconstruct the effects of the taphonomic filter and thereby better interpret the completeness of fossil Lagerstätten. Seafloor brines are potential environments leading to exceptional preservation. The Shelf and Slope Experimental Taphonomy Initiative (SSETI) placed mollusc shells, decapod crustaceans, sea urchins, and wood into a Gulf of Mexico seafloor brine pool environment to study the rates and modes of skeletal and soft tissue decay. We found that skeletons, soft tissue, and wood placed directly in the sulfidic anoxic brine were essentially not degraded or discolored over nearly a decade. Where the brine mixed with overlying seawater in a brine stream, the taphonomic signature was quite different. Calcium-carbonate shell and urchin tests underwent severe dissolution, whereas terrestrial plant remains were unaltered. Farther from the brine, shell and urchin carbonate was only slightly dissolved, wood was completely consumed by xylophagus animals, and decapods were reduced to claw parts only. From these experiments, we conclude that the taphonomic signature of a brine seep can be recognized by a unique juxtaposition of preservation styles that varies across phyla. The central area of the anoxic brine would promote exquisite preservation of carbonate, soft-animal tissue, and cellulose. The central area would be ringed by a zone of near total loss of shell carbonate, but paradoxically would promote the preservation of organic tissue such as shell periostracum and ligament, wood, nuts, and cones. Where seawater salinity is normal, the taphonomic signature would return to a seafloor assemblage appropriate to the depth and depositional environment. Brine seep systems may provide a mechanism for maintaining unaltered organism remains at the sediment-water interface long enough to become buried with soft anatomy intact and undisturbed. The very important fossil deposit known as the Burgess Shale exhibits preservation styles and patterns that might be explained by presence of brine. Our experimental work in a modern brine system may shed some light on the taphonomic conditions that led to preservation known as the “Burgess Shale type.

The Multi-Trajectory Theory of Adult Firesetting (M-TTAF)

The assessment and treatment of adults who set fires deliberately are underdeveloped relative to other areas of forensic-clinical psychology. From a scientist–practitioner perspective, all clinical assessment and treatment should be guided by a theoretical and empirically based understanding of the presenting clinical phenomena. In this paper, we critically review current typologies, motives, and theories regarding the etiological features of deliberate adult firesetting. Then, using a theory knitting perspective, we synthesize the prime parts of this information into a comprehensive multifactorial framework of deliberate firesetting. The resulting Multi-Trajectory Theory of Adult Firesetting (M-TTAF) is an integration of current theory, typological, and research knowledge into a comprehensive etiological theory of firesetting along with its maintenance, and desistence. In addition to this overall theoretical framework, we summarize five associated prototypical firesetting trajectories (or patterns of characteristics leading to the firesetting behavior) that stem from our theoretical work. We examine this new theory according to key evaluative components associated with theory construction and conclude by highlighting the M-TTAF's potential application in future research and practice innovation with adult firesetters

Citizenship status and career self-efficacy: An intersectional study of biomedical trainees in the United States

Abstract: This study examines the intersectional role of citizenship and gender with career self-efficacy amongst 10,803 doctoral and postdoctoral trainees in US universities. These biomedical trainees completed surveys administered by 17 US institutions that participated in the National Institutes of Health Broadening Experiences in Scientific Training (NIH BEST) Programs. Findings indicate that career self-efficacy of non-citizen trainees is significantly lower than that of US citizen trainees. While lower career efficacy was observed in women compared with men, it was even lower for non-citizen female trainees. Results suggest that specific career interests may be related to career self-efficacy. Relative to US citizen trainees, both male and female non-citizen trainees showed higher interest in pursuing a career as an academic research investigator. In comparison with non-citizen female trainees and citizen trainees of all genders, non-citizen male trainees expressed the highest interest in research-intensive (and especially principal investigator) careers. The authors discuss potential causes for these results and offer recommendations for increasing trainee career self-efficacy which can be incorporated into graduate and postdoctoral training

Adults with impaired gastrointestinal function show improvements in gastrointestinal symptoms and protein intake with a high-protein, peptide-based oral nutritional supplement

Summary: Background: Provision of feeds containing hydrolysed, peptide-based proteins and medium-chain triglycerides (MCT), can help mitigate gastrointestinal (GI) intolerance in adults with impaired GI function, maldigestion and/or malabsorption. Aim: This study evaluated a high-protein, peptide-based, MCT-containing oral nutritional supplement (PEHP; 1.5 kcal/mL and 7.5 g protein/100 mL). Methods: Adults with impaired GI function were recruited by their managing dietitian and took PEHP orally for 28-days, with GI tolerance, compliance, weight, energy and protein intake assessed via non-validated questionnaires and a 24-hour dietary recall at baseline and at intervention end. Results: Fifteen, adults (56 years (16), 67 kg (26.0), 24 kg/m2 (7.6)) took part in this study. Intensity of nausea (Z= -2.070, p=0.038, n=15) and abdominal pain (Z= -2.236, p=0.025, n=15) improved significantly compared to baseline. Reductions in the intensity of diarrhoea, constipation, vomiting, flatulence, and burping were observed but were not statistically significant (p>0.05 for all). Compliance was higher with PEHP (81% (24)) than baseline feeds (63% (42)) but not significantly. Weight remained stable between baseline (67 kg (26)) and at intervention end (67 kg (27), p=0.414, n=15). Compared to baseline, total energy intake increased with PEHP albeit not significantly (1661 kcal/day (572) vs 1981 kcal/day (592), p=0.137, n=15). Increases in total protein intake were also observed, this time significantly (61 g/day (23) vs 78 g/day (29), p=0.042, n=15). Conclusions: This study in adults with impaired GI function found that PEHP improved GI tolerance and protein intake compared to feeds taken at baseline (including both polymeric and peptide-based feeds)