Suction rectal biopsy in the diagnosis of Hirschsprung's disease and chronic constipation

Suction rectal biopsy has gained increased acceptance as the means of definitively diagnosing Hirschsprung's disease as well as excluding this diagnosis when evaluating the child with chronic constipation. During the 11-year period from 1 July 1974 through 30 June 1985 at the University of Michigan, Mott Children's Hospital, 309 suction rectal biopsy specimens were evaluated. Of these, 293 were done for the evaluation of chronic constipation and/or Hirschsprung's disease. The remaining 16 were performed as a part of the work-up in patients with neuromuscular, glycogen storage, inflammatory bowel, or other diseases. Forty-two (14%) of the 293 patients were diagnosed as having Hirschsprung's disease at an average age of 14.4 months. This diagnosis was ruled out in the remaining 251 patients, whose age at biopsy averaged 2.7 years. There was one false-negative reading representing an incidence of 0.3%, with no false-positives. There were no complications. The suction rectal biopsy is a bedside or clinic procedure that reliably provides pathologic material adequate for the accurate diagnosis or exclusion of Hirschsprung's disease and offers a number of advantages over manometric, radiographic, histochemical, and open, full-thickness biopsy techniques.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47146/1/383_2004_Article_BF00166866.pd

CHARACTERISTICS OF SUCCESSFUL LOCAL BLENDED PROGRAMS IN THE CONTEXT OF THE SLOAN-C PILLARS

Drawing on the University of Massachusetts experience in developing successful blended local programs, this paper suggests guiding principles that include mission-driven responsiveness to local contexts and partnerships; using low-cost marketing strategies available through local relationships and brand; attending to students’ preferences for blending face-to-face and online services and instruction throughout the college experience; supporting faculty in working with partners to develop local blended programs; and providing activities that anchor students to the campus and program.

CHARACTERISTICS OF SUCCESSFUL LOCAL BLENDED PROGRAMS IN THE CONTEXT OF THE SLOAN-C PILLARS

Drawing on the University of Massachusetts experience in developing successful blended local programs, this paper suggests guiding principles that include mission-driven responsiveness to local contexts and partnerships; using low-cost marketing strategies available through local relationships and brand; attending to students’ preferences for blending face-to-face and online services and instruction throughout the college experience; supporting faculty in working with partners to develop local blended programs; and providing activities that anchor students to the campus and program

Final Report of the Information Technology Subcommittee for the Campus Master Plan

Through its work, data collection, outreach, and careful review of various studies and information, the committee is led to conclude that as it moves forward with implementation of its Master Plan, UMass Boston has a tremendous opportunity to plan for and design spaces that support and promote the learning, teaching, and research requirements of the campus community. It is hoped that the recommended guidelines and standards outlined in this report will assist and inform the planning and design of new and renovated campus facilities and specifically address the technological needs of classrooms, laboratories, offices, informal study areas, and social spaces throughout the campus. As technology transforms rapidly and the needs of the campus evolve, the committee also recommends that this report is reviewed and updated on a yearly basis

Identifying the needs of brain tumor patients and their caregivers

The purpose of this study is to identify the needs of brain tumor patients and their caregivers to provide improved health services to these populations. Two different questionnaires were designed for patients and caregivers. Both questionnaires contained questions pertaining to three realms: disease symptoms/treatment, health care provider, daily living/finances. The caregivers’ questionnaires contained an additional domain on emotional needs. Each question was evaluated for the degree of importance and satisfaction. Exploratory analyses determined whether baseline characteristics affect responder importance or satisfaction. Also, areas of high agreement/disagreement in satisfaction between the participating patient-caregiver pairs were identified. Questions for which >50% of the patients and caregivers thought were “very important” but >30% were dissatisfied include: understanding the cause of brain tumors, dealing with patients’ lower energy, identifying healthful foods and activities for patients, telephone access to health care providers, information on medical insurance coverage, and support from their employer. In the emotional realm, caregivers identified 9 out of 10 items as important but need further improvement. Areas of high disagreement in satisfaction between participating patient-caregiver pairs include: getting help with household chores (P value = 0.006) and finding time for personal needs (P value < 0.001). This study provides insights into areas to improve services for brain tumor patients and their caregivers. The caregivers’ highest amount of burden is placed on their emotional needs, emphasizing the importance of providing appropriate medical and psychosocial support for caregivers to cope with emotional difficulties they face during the patients’ treatment process

Activation of PI3K/mTOR pathway occurs in most adult low-grade gliomas and predicts patient survival

Recent evidence suggests the Akt-mTOR pathway may play a role in development of low-grade gliomas (LGG). We sought to evaluate whether activation of this pathway correlates with survival in LGG by examining expression patterns of proteins within this pathway. Forty-five LGG tumor specimens from newly diagnosed patients were analyzed for methylation of the putative 5′-promoter region of PTEN using methylation-specific PCR as well as phosphorylation of S6 and PRAS40 and expression of PTEN protein using immunohistochemistry. Relationships between molecular markers and overall survival (OS) were assessed using Kaplan-Meier methods and exact log-rank test. Correlation between molecular markers was determined using the Mann-Whitney U and Spearman Rank Correlation tests. Eight of the 26 patients with methylated PTEN died, as compared to 1 of 19 without methylation. There was a trend towards statistical significance, with PTEN methylated patients having decreased survival (P = 0.128). Eight of 29 patients that expressed phospho-S6 died, whereas all 9 patients lacking p-S6 expression were alive at last follow-up. There was an inverse relationship between expression of phospho-S6 and survival (P = 0.029). There was a trend towards decreased survival in patients expressing phospho-PRAS40 (P = 0.077). Analyses of relationships between molecular markers demonstrated a statistically significant positive correlation between expression of p-S6(235) and p-PRAS40 (P = 0.04); expression of p-S6(240) correlated positively with PTEN methylation (P = 0.04) and negatively with PTEN expression (P = 0.03). Survival of LGG patients correlates with phosphorylation of S6 protein. This relationship supports the use of selective mTOR inhibitors in the treatment of low grade glioma

Expanding the diversity of mycobacteriophages: insights into genome architecture and evolution.

Mycobacteriophages are viruses that infect mycobacterial hosts such as Mycobacterium smegmatis and Mycobacterium tuberculosis. All mycobacteriophages characterized to date are dsDNA tailed phages, and have either siphoviral or myoviral morphotypes. However, their genetic diversity is considerable, and although sixty-two genomes have been sequenced and comparatively analyzed, these likely represent only a small portion of the diversity of the mycobacteriophage population at large. Here we report the isolation, sequencing and comparative genomic analysis of 18 new mycobacteriophages isolated from geographically distinct locations within the United States. Although no clear correlation between location and genome type can be discerned, these genomes expand our knowledge of mycobacteriophage diversity and enhance our understanding of the roles of mobile elements in viral evolution. Expansion of the number of mycobacteriophages grouped within Cluster A provides insights into the basis of immune specificity in these temperate phages, and we also describe a novel example of apparent immunity theft. The isolation and genomic analysis of bacteriophages by freshman college students provides an example of an authentic research experience for novice scientists

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10-8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4