Context-dependent hyperactivity in and zebrafish models of SYNGAP1-related disorder.

Background And Aims: SYNGAP1-related disorder (SYNGAP1-RD) is a prevalent genetic form of Autism Spectrum Disorder and Intellectual Disability (ASD/ID) and is caused by or inherited mutations in one copy of the gene. In addition to ASD/ID, SYNGAP1 disorder is associated with comorbid symptoms including treatment-resistant-epilepsy, sleep disturbances, and gastrointestinal distress. Mechanistic links between these diverse symptoms and variants remain obscure, therefore, our goal was to generate a zebrafish model in which this range of symptoms can be studied.

Drugs prescribed for Phelan-McDermid syndrome differentially impact sensory behaviors in zebrafish models.

Altered sensory processing is a pervasive symptom in individuals with Autism Spectrum Disorders (ASD); people with Phelan McDermid syndrome (PMS), in particular, show reduced responses to sensory stimuli. PMS is caused by deletions of the terminal end of chromosome 22 or point mutations in People with PMS can present with an array of symptoms including ASD, epilepsy, gastrointestinal distress, and reduced responses to sensory stimuli. People with PMS are often medicated to manage behaviors like aggression and/or self-harm and/or epilepsy, and it remains unclear how these medications might impact perception/sensory processing.

Context-dependent hyperactivity in and zebrafish autism models.

Background And Aims: SYNGAP1 disorder is a prevalent genetic form of Autism Spectrum Disorder and Intellectual Disability (ASD/ID) and is caused by or inherited mutations in one copy of the gene. In addition to ASD/ID, SYNGAP1 disorder is associated with comorbid symptoms including treatment-resistant-epilepsy, sleep disturbances, and gastrointestinal distress. Mechanistic links between these diverse symptoms and variants remain obscure, therefore, our goal was to generate a zebrafish model in which this range of symptoms can be studied.

A brain-wide analysis maps structural evolution to distinct anatomical module.

The vertebrate brain is highly conserved topologically, but less is known about neuroanatomical variation between individual brain regions. Neuroanatomical variation at the regional level is hypothesized to provide functional expansion, building upon ancestral anatomy needed for basic functions. Classically, animal models used to study evolution have lacked tools for detailed anatomical analysis that are widely used in zebrafish and mice, presenting a barrier to studying brain evolution at fine scales.

Novel Husbandry Practices Result in Rapid Rates of Growth and Sexual Maturation Without Impacting Adult Behavior in the Blind Mexican Cavefish.

Animal model systems are dependent on the standardization of husbandry protocols that maximize growth and reduce generation time. The Mexican tetra, , exists as eyed surface and blind cave dwelling populations. The opportunity for comparative approaches between independently evolved populations has led to the rapid growth of as a model for evolution and biomedical research.

Restoring Shank3 in the rostral brainstem of shank3ab-/- zebrafish autism models rescues sensory deficits.

People with Phelan-McDermid Syndrome, caused by mutations in the SHANK3 gene, commonly exhibit reduced responses to sensory stimuli; yet the changes in brain-wide activity that link these symptoms to mutations in the shank3 gene remain unknown. Here we quantify movement in response to sudden darkness in larvae of two shank3 zebrafish mutant models and show that both models exhibit dampened responses to this stimulus. Using brain-wide activity mapping, we find that shank3 light-sensing brain regions show normal levels of activity while sensorimotor integration and motor regions are less active.

Intestinal dysmotility in a zebrafish () mutant model of autism.

Background And Aims: Autism spectrum disorder (ASD) is currently estimated to affect more than 1% of the world population. For people with ASD, gastrointestinal (GI) distress is a commonly reported but a poorly understood co-occurring symptom. Here, we investigate the physiological basis for GI distress in ASD by studying gut function in a zebrafish model of Phelan-McDermid syndrome (PMS), a condition caused by mutations in the gene.

Prenatal Neuropathologies in Autism Spectrum Disorder and Intellectual Disability: The Gestation of a Comprehensive Zebrafish Model.

Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental disorders with overlapping diagnostic behaviors and risk factors. These include embryonic exposure to teratogens and mutations in genes that have important functions prenatally. Animal models, including rodents and zebrafish, have been essential in delineating mechanisms of neuropathology and identifying developmental critical periods, when those mechanisms are most sensitive to disruption.

Thirty-day readmissions following parathyroidectomy: Evidence from the National Readmissions Database, 2013-2014.

Purpose: Parathyroidectomy is one of the most common procedures performed in the United States, and are increasingly being performed safely in the outpatient setting. However, complications from surgery can be life-threatening, and thus an understanding of who may be at risk is essential. We analyzed and compared the risk factors for patients readmitted within 30 days following inpatient parathyroidectomy for primary or secondary hyperparathyroidism.

The Sestamibi Paradox: Improving Intraoperative Localization of Parathyroid Adenomas.

Accurate localization of parathyroid adenomas allows for minimally invasive parathyroidectomy. This results in a shorter length of stay and increased patient satisfaction. Preoperative Technetium (99mTc) sestamibi scans accurately localize parathyroid adenomas in 70 to 85 per cent of cases.

Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish.

Zebrafish are a unique cell to behavior model for studying the basic biology of human inherited neurological conditions. Conserved vertebrate genetics and optical transparency provide in vivo access to the developing nervous system as well as high-throughput approaches for drug screens. Here we review zebrafish modeling for two broad groups of inherited conditions that each share genetic and molecular pathways and overlap phenotypically: neurodevelopmental disorders such as Autism Spectrum Disorders (ASD), Intellectual Disability (ID) and Schizophrenia (SCZ), and neurodegenerative diseases, such as Cerebellar Ataxia (CATX), Hereditary Spastic Paraplegia (HSP) and Charcot-Marie Tooth Disease (CMT).

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.

Despite significant progress in the genetics of autism spectrum disorder (ASD), how genetic mutations translate to the behavioral changes characteristic of ASD remains largely unknown. ASD affects 1-2% of children and adults, and is characterized by deficits in verbal and non-verbal communication, and social interactions, as well as the presence of repetitive behaviors and/or stereotyped interests. ASD is clinically and etiologically heterogeneous, with a strong genetic component.

Does a new surgical residency program increase operating room times?

Background: Our country faces a shortage of surgeons; hence, we may anticipate the development of new surgery residencies. Therefore, the question of the effect of a new program on operating room times (ORT) is important. Our primary aim was to compare ORT of 3 common procedures done by attendings alone vs ORT of cases with residents.

Pretraining and posttraining assessment of residents' performance in the fourth accreditation council for graduate medical education competency: patient communication skills.

Hypothesis: Structured communication curricula will improve surgical residents' ability to communicate effectively with patients.

Design And Setting: A prospective study approved by the institutional review board involved 44 University of Connecticut general surgery residents. Residents initially completed a written baseline survey to assess general communication skills awareness.

Accuracy of colon tumor localization: Computed tomography scanning as a complement to colonoscopy.

Aim: To determine the utility of computed tomography (CT) scanning in localizing colon tumors.

Methods: At a single tertiary care teaching hospital, a retrospective chart review was conducted on patients who underwent surgery for colon malignancies between January 2004 and May 2006. One hundred and four charts containing all of the following data were reviewed: preoperative colonoscopy report, preoperative CT report, surgical operative report, tumor pathology report.

Association of VA Surgeons annual resident paper award winners: career paths following completion of postgraduate training.

The aims of this study are to track those AVAS podium resident prize winners and to determine patterns of fellowship training type of practice, and primary area of specialization and whether their prize winning paper reflects their current area of specialization today. We also determined whether these residents, once completing their training, ever practiced at a VA hospital, and, whether they have been or currently are members of the AVAS. There have been 43 residents who have won 46 podium awards during this 18 year period.

Improving surgical residents' performance on written assessments of cultural competency.

Context: The pressure to implement cultural-competency training at the level of GME is high. The rapidly diversifying American population and the ACGME demand it, and cultural competency is recognized as a core competency under "Professionalism."

Objectives: The objectives for this study were (1) to assess residents' baseline levels of cultural competence, (2) define barriers to skill-acquisition, and (3) examine efficacy of educational programs in improving cultural competence.

The efficacy of intraoperative methylene blue enemas to assess the integrity of a colonic anastomosis.

Background: Intraoperative testing of colonic anastomoses is routine in assuring anastamotic integrity. We sought to determine the efficacy of the methylene blue enema (MBE) as an intraoperative test for anastomotic leaks.

Methods: This study is a retrospective review of consecutive colonic operations performed from January 2001 to December 2004 in a community hospital setting by a general surgical group that uses the MBE exclusively.

Small-bowel tumors: epidemiologic and clinical characteristics of 1260 cases from the connecticut tumor registry.

Objective: To examine the epidemiology and clinical characteristics of small-bowel cancer.

Design: Patients with small-bowel tumors reported between 1980 and 2000, studied retrospectively.

Setting: Data from the Connecticut Tumor Registry.

Cost-aware care: critical core competency.

Hypothesis: Resident core competence can be improved by learning to accurately estimate the costs of postoperative complications.

Design: Prospective, institutional review board-approved study. In step 1, residents were provided 3 clinical vignettes detailing specific treatment measures for postsurgical complications and asked to assign total cost estimates for the treatment for each vignette; in step 2 they were given a pocket-sized cost card listing hospital costs, and in step 3, after 2 weeks, they were retested using the same clinical vignettes as in step 1.

Surgical perspectives in peptic ulcer disease and gastritis.

For much of the twentieth century, surgery was frequently the solution for peptic ulcer disease. Our understanding of the pathophysiology of ulcers paralleled the development of potent pharmaceutical therapy. As the surgical world developed parietal cell vagotomy which would minimize the complications of surgery, patients failing medical therapy became rare.

Postoperative day one: a high risk period for respiratory events.

Background: In 2001, the Joint Commission on Accreditation of Healthcare Organizations released Pain Management Standards that has led to an increased focus on pain control. Since then the Institute for Safe Medication Practices has noted that overaggressive pain management has led to increases in oversedation and fatal respiratory depression. One of our previous studies found that postoperative patients may be reaching dangerously high levels of sedation as a result of pain management.