A Zika virus protein expression screen in Drosophila to investigate targeted host pathways during development.

In the past decade, Zika virus (ZIKV) emerged as a global public health concern. Although adult infections are typically mild, maternal infection can lead to adverse fetal outcomes. Understanding how ZIKV proteins disrupt development can provide insights into the molecular mechanisms of disease caused by this virus, which includes microcephaly.

A Zika virus protein expression screen in to investigate targeted host pathways during development.

In the past decade, Zika virus (ZIKV) emerged as a global public health concern. While adult infections are typically mild, maternal infection can lead to adverse fetal outcomes. Understanding how ZIKV proteins disrupt development can provide insights into the molecular mechanisms of symptoms caused by this virus including microcephaly.

Anticoagulation Strategies in Pediatric Cardiopulmonary Bypass, Weight-Based vs. Concentration-Based Approaches.

Pediatric patients undergoing cardiopulmonary bypass (CPB) require adequate anticoagulation to combat hemostatic activation. Heparin is used to bind and catalyze antithrombin III (ATIII) that works to inhibit clot formation. To dose heparin, a weight-based (WB) or patient-specific concentration-based (PSCB) method can be used.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through "humanization" rescue and overexpression-based strategies.

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.

Next-generation sequencing is a prevalent diagnostic tool for undiagnosed diseases and has played a significant role in rare disease gene discovery. Although this technology resolves some cases, others are given a list of possibly damaging genetic variants necessitating functional studies. Productive collaborations between scientists, clinicians, and patients (affected individuals) can help resolve such medical mysteries and provide insights into in vivo function of human genes.

as a Model for Infectious Diseases.

The fruit fly, , has been used to understand fundamental principles of genetics and biology for over a century. is now also considered an essential tool to study mechanisms underlying numerous human genetic diseases. In this review, we will discuss how flies can be used to deepen our knowledge of infectious disease mechanisms in vivo.

Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†.

Receptor accessory protein 6 (REEP6) is a member of the REEP/Ypt-interacting protein family that we recently identified as essential for normal endoplasmic reticulum homeostasis and protein trafficking in the retina of mice and humans. Interestingly, in addition to the loss of REEP6 in our knockout (KO) mouse model recapitulating the retinal degeneration of humans with REEP6 mutations causing retinitis pigmentosa (RP), we also found that male mice are sterile. Herein, we characterize the infertility caused by loss of Reep6.

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.

Advances in sequencing technology have made whole-genome and whole-exome datasets more accessible for both clinical diagnosis and cutting-edge human genetics research. Although a number of in silico algorithms have been developed to predict the pathogenicity of variants identified in these datasets, functional studies are critical to determining how specific genomic variants affect protein function, especially for missense variants. In the Undiagnosed Diseases Network (UDN) and other rare disease research consortia, model organisms (MO) including Drosophila, C.

Attitudes of patients and care providers toward a surgical site marking policy.

Background: In the fall of 2005, the University Health Network in Toronto, Canada, initiated a policy requiring the surgeon-or his or her delegate-to sign the incision site for all operations. Little is known about what health care providers and patients think about official surgical site marking policy.

Method: Twenty-one patients and health care providers were interviewed, and the authors conducted field observations of surgeons while they marked their patients.

Risk factors for bile duct injury during laparoscopic cholecystectomy: a case-control study.

Common bile duct injury is a serious but uncommon complication of laparoscopic cholecystectomy. A case-control epidemiologic study of patients who had undergone cholecystectomy in Ontario, Canada, between 1991 and 1997 was performed. Four patients who had undergone a laparoscopic cholecystectomy at the same hospital 2 months prior to a case were selected as controls.

Patient-centered measures for achalasia.

Background: Various instruments may be used to measure health-related quality of life in patients with achalasia.

Methods: We administered four patient-centered measures used for evaluation of achalasia severity [an achalasia severity questionnaire we developed previously, an achalasia symptom checklist, the Gastrointestinal Quality-of-Life Index (GIQLI), and the Medical Outcomes Study 36-item Short-Form survey (SF-36)] to 25 subjects enrolled in a randomized controlled trial comparing pneumatic dilatation and laparoscopic Heller myotomy. We estimated correlations between the different measures.

Adoption of an innovation to repair aortic aneurysms at a Canadian hospital: a qualitative case study and evaluation.

Background: Priority setting in health care is a challenge because demand for services exceeds available resources. The increasing demand for less invasive surgical procedures by patients, health care institutions and industry, places added pressure on surgeons to acquire the appropriate skills to adopt innovative procedures. Such innovations are often initiated and introduced by surgeons in the hospital setting.

Factors affecting the number of lymph nodes retrieved in colorectal cancer specimens.

Background: Staging of colorectal cancer is dependent on the number of lymph nodes in a surgical specimen that are positive for metastatic cancer. It is generally recommended that a minimum of 12 lymph nodes be examined to ensure adequate staging. It is unclear which factors specifically contribute to variation in the number of lymph nodes retrieved from surgical specimens.

How are decisions to introduce new surgical technologies made? Advanced laparoscopic surgery at a Canadian community hospital: A qualitative case study and evaluation.

The introduction of many new surgical technologies is associated with increased costs and uncertainty regarding risks and benefits. Currently, little is known about how decisions are made regarding the adoption of surgical innovations. To study the decision-making process for adoption of advanced laparoscopic surgical procedures at a community hospital in Toronto, Canada, we used qualitative case study methods.

Effect of surgeon on outcome of antireflux surgery.

Background: We sought to determine whether subjective outcomes one or more years after antireflux surgery are affected by the operating surgeon.

Methods: We reviewed records of patients who had antireflux surgery from June 2000 to June 2002 and mailed the patients a 19-item survey that focused on current medication use, postoperative symptom improvement, and satisfaction with surgery. We tested the significance of predictor variables using chi-squared and Fisher exact tests for categorical variables and analysis of variance for continuous variables.

A measure of quality of life after abdominal surgery.

Objective: To develop a reliable and valid measure of short-term quality of life after abdominal surgery.

Summary Background Data: A major limitation of clinical trials evaluating laparoscopic surgical procedures has been the lack of a measure of short-term quality of life after abdominal surgery.

Methods: We used existing health status measures, focus groups, and semi-structured patient interviews to generate a prototype questionnaire of 51 items, which was administered to patients within 2 weeks after an abdominal surgical procedure.

Short-term health-related quality of life after abdominal surgery: a conceptual framework.

We sought to develop a conceptual framework of health-related quality of life (QOL) after abdominal surgery to assist in the development of a QOL measure suitable for use in clinical trials comparing laparoscopic and conventional surgery. We conducted semi-structured interviews with 21 patients within 2 weeks after an abdominal surgical procedure. Responses were transferred into an electronic spreadsheet and coded to facilitate analysis.

A measure of disease-specific health-related quality of life for achalasia.

Objectives: To develop a measure of disease-specific health-related quality of life for achalasia for use as an outcome measure in clinical trials.

Methods: We generated a list of potential items for a measure of disease-specific health-related quality of life for achalasia by semistructured interviews with seven persons with achalasia, and by expert opinion. We then used factor analysis and item response theory methods for item reduction, using responses on the long-form questionnaire from 70 persons with achalasia.

A low-glycemic index diet in the treatment of pediatric obesity.

Context: Conventional dietary approaches for the treatment of obesity have generally yielded disappointing results.

Objective: To examine the effects of a low-glycemic index (GI) diet compared with a standard reduced-fat diet in the management of pediatric obesity.

Design: Retrospective cohort study of children attending an outpatient pediatric obesity program from September 1997 to December 1998.

Reactive and proactive aggression in school children and psychiatrically impaired chronically assaultive youth.

The authors proposed that reactively aggressive and proactively aggressive types of antisocial youth would differ in developmental histories, concurrent adjustment, and social information-processing patterns. In Study 1, 585 boys and girls classified into groups called reactive aggressive, proactive aggressive, pervasively aggressive (combined type), and nonaggressive revealed distinct profiles. Only the reactive aggressive groups demonstrated histories of physical abuse and early onset of problems, adjustment problems in peer relations, and inadequate encoding and problem-solving processing patterns.

Mother-child interaction quality as a partial mediator of the roles of maternal depressive symptomatology and socioeconomic status in the development of child behavior problems. Conduct Problems Prevention Research Group.

This investigation examined the relation between maternal depressive symptomatology and the development of externalizing behavior problems in children by incorporating mother-child interaction quality into a series of models. A representative sample of 376 first-grade boys and girls (mean age = 6.52) from diverse backgrounds (234 from the lowest 2 socioeconomic classes) and their mothers completed an interaction task designed to measure the quality of mother-child interaction.