The genetic architecture of the human cerebral cortex

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

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

Breast cancer management pathways during the COVID-19 pandemic: outcomes from the UK ‘Alert Level 4’ phase of the B-MaP-C study

Abstract: Background: The B-MaP-C study aimed to determine alterations to breast cancer (BC) management during the peak transmission period of the UK COVID-19 pandemic and the potential impact of these treatment decisions. Methods: This was a national cohort study of patients with early BC undergoing multidisciplinary team (MDT)-guided treatment recommendations during the pandemic, designated ‘standard’ or ‘COVID-altered’, in the preoperative, operative and post-operative setting. Findings: Of 3776 patients (from 64 UK units) in the study, 2246 (59%) had ‘COVID-altered’ management. ‘Bridging’ endocrine therapy was used (n = 951) where theatre capacity was reduced. There was increasing access to COVID-19 low-risk theatres during the study period (59%). In line with national guidance, immediate breast reconstruction was avoided (n = 299). Where adjuvant chemotherapy was omitted (n = 81), the median benefit was only 3% (IQR 2–9%) using ‘NHS Predict’. There was the rapid adoption of new evidence-based hypofractionated radiotherapy (n = 781, from 46 units). Only 14 patients (1%) tested positive for SARS-CoV-2 during their treatment journey. Conclusions: The majority of ‘COVID-altered’ management decisions were largely in line with pre-COVID evidence-based guidelines, implying that breast cancer survival outcomes are unlikely to be negatively impacted by the pandemic. However, in this study, the potential impact of delays to BC presentation or diagnosis remains unknown

Invasive lobular carcinoma arising in accessory breast tissue

Background: Lobular carcinoma in accessory breast tissue is a rare occurrence. We present such a case in a 61-year-old woman. Case presentation: A skin nodule in the axillary skin on excision biopsy revealed invasive lobular carcinoma. Conclusions: Carcinoma in accessory breast tissue is uncommon especially invasive lobular type. A high index of suspicion may avoid late diagnosis

Publication No._____________

The Dissertation Committee for Courtney Ann Sullivan certifies that this i

Effectiveness of a Web-Based Provider Communications Platform in Reducing Hospital Readmissions Among Patients Receiving Dialysis: A Pilot Pre-Post Study.

RATIONALE & OBJECTIVE: Suboptimal care coordination between dialysis facilities and hospitals is an important driver of 30-day hospital readmissions among patients receiving dialysis. We examined whether the introduction of web-based communications platform (DialysisConnect) was associated with reduced hospital readmissions. STUDY DESIGN: Pilot pre-post study. SETTING & PARTICIPANTS: A total of 4,994 index admissions at a single hospital (representing 2,419 patients receiving dialysis) during the study period (January 1, 2019-May 31, 2021). INTERVENTION: DialysisConnect was available to providers at the hospital and 4 affiliated dialysis facilities (=intervention facilities) during the pilot period (November 1, 2020-May 31, 2021). OUTCOMES: The primary outcome was 30-day readmission; secondary outcomes included 30-day emergency department visits and observation stays. Interrupted time series and linear models with generalized estimating equations were used to assess pilot versus prepilot differences in outcomes; difference-in-difference analyses were performed to compare these differences between intervention versus control facilities. Sensitivity analyses included a third, prepilot/COVID-19 period (March 1, 2020-October 31, 2020). RESULTS: There was no statistically significant difference in the monthly trends in the 30-day readmissions pilot versus prepilot periods (-0.60 vs -0.13, P = 0.85) for intervention facility admissions; the difference-in-difference estimate was also not statistically significant (0.54 percentage points, P = 0.83). Similar analyses including the prepilot/COVID-19 period showed that, despite a substantial drop in admissions at the start of the pandemic, there were no statistically significant differences across the 3 periods. The age-, sex-, race-, and comorbid condition-adjusted, absolute pilot versus prepilot difference in readmissions rate was 1.8% (-3.7% to 7.3%); similar results were found for other outcomes. LIMITATIONS: Potential loss to follow-up and pandemic effects. CONCLUSIONS: In this pilot, the introduction of DialysisConnect was not associated with reduced hospital readmissions. Tailored care coordination solutions should be further explored in future, multisite studies to improve the communications gap between dialysis facilities and hospitals

Rural Cooperatives Magazine, May/June 2013

Features - Start Me Up; Building Bridges; Indivisible Reserves; Birds of a Feather; Equity Elevator & Trading Co. joins century club; The Lure of Distant Shores; USDA funds help reopen town’s only grocery; Co-op food market planned in South Carolin

A Web-Based, Provider-Driven Mobile App to Enhance Patient Care Coordination Between Dialysis Facilities and Hospitals: Development and Pilot Implementation Study

BackgroundWe piloted a web-based, provider-driven mobile app (DialysisConnect) to fill the communication and care coordination gap between hospitals and dialysis facilities. ObjectiveThis study aimed to describe the development and pilot implementation of DialysisConnect. MethodsDialysisConnect was developed iteratively with focus group and user testing feedback and was made available to 120 potential users at 1 hospital (hospitalists, advanced practice providers [APPs], and care coordinators) and 4 affiliated dialysis facilities (nephrologists, APPs, nurses and nurse managers, social workers, and administrative personnel) before the start of the pilot (November 1, 2020, to May 31, 2021). Midpilot and end-of-pilot web-based surveys of potential users were also conducted. Descriptive statistics were used to describe system use patterns, ratings of multiple satisfaction items (1=not at all; 3=to a great extent), and provider-selected motivators of and barriers to using DialysisConnect. ResultsThe pilot version of DialysisConnect included clinical information that was automatically uploaded from dialysis facilities, forms for entering critical admission and discharge information, and a direct communication channel. Although physicians comprised most of the potential users of DialysisConnect, APPs and dialysis nurses were the most active users. Activities were unevenly distributed; for example, 1 hospital-based APP recorded most of the admissions (280/309, 90.6%) among patients treated at the pilot dialysis facilities. End-of-pilot ratings of DialysisConnect were generally higher for users versus nonusers (eg, “I can see the potential value of DialysisConnect for my work with dialysis patients”: mean 2.8, SD 0.4, vs mean 2.3, SD 0.6; P=.02). Providers most commonly selected reduced time and energy spent gathering information as a motivator (11/26, 42%) and a lack of time to use the system as a barrier (8/26, 31%) at the end of the pilot. ConclusionsThis pilot study found that APPs and nurses were most likely to engage with the system. Survey participants generally viewed the system favorably while identifying substantial barriers to its use. These results inform how best to motivate providers to use this system and similar systems and inform future pragmatic research in care coordination among this and other populations