The Impact of Paid Sick Days on Public Health in an Elementary School Population

Background: The societal impact of Paid Sick Days (PSDs) has not been fully addressed in Vermont. Evidence suggests that PSDs benefit the well being of the employee in addition to saving expenses for the employer and the state. PSDs prevent the spread of diseases such as influenza and allow the ailing individual to receive proper medical attention. Inadequate PSDs not only affect the individual who needs time away from work due to illness, but extend to their entire family. Studies have documented the adverse effects from lack of PSDs on the ability for parents to care for their child. The following facts are known: • 7 states require private sector employees to provide “flexible” PSDs for family members (Vermont does not). • 66% of employers in Vermont do not provide PSDs for their employees. • Parents with PSDs or vacation are 5.2 times more likely to take time off from work to care for their sick child. We hypothesize that elementary aged children of working parents, who have an insufficient amount of PSDs, are more likely to attend school with an acute illness and are more likely to receive inadequate health care (i.e., miss well child check ups).https://scholarworks.uvm.edu/comphp_gallery/1015/thumbnail.jp

Myeloid Neoplasms with t(5;12) and ETV6-ACSL6 Gene Fusion, Potential Mimickers of Myeloid Neoplasm with PDGFRB Rearrangement: Case Report with Imatinib Therapy and Review of the Literature

We report the second case of ETV6-ACSL6 associated myeloproliferative neoplasm that has received a full course of imatinib therapy. The patient was a 51-year-old previously healthy man who presented with three months of worsening dyspnea and was found to have a white count of 216,000/cmm, of which 84% were eosinophil lineage. Cytogenetic analysis revealed a t(5;12)(q31~33;p13). FISH was negative for PDGFRB rearrangement but additional FISH testing demonstrated an ACSL6 rearrangement. ETV6-ACSL6 gene fusion is a rare abnormality that most often presents as a myeloproliferative-type disorder with prominent eosinophilia or basophilia. Review of the literature yielded a total of 11 previous cases. This gene fusion results in a t(5;12)(q31~33;p13) that mimics the t(5;12) found in ETV6-PDGFRB neoplasms. Identification of the fusion genes involved in t(5;12) in eosinophilia-associated myeloproliferative disorders is crucial to direct an effective treatment plan. In particular, while tyrosine kinase inhibitor therapy is effective in patients with PDGFRB rearrangement, there is little information on imatinib efficacy in patients with ETV6-ACSL6 gene fusion. Our patient was found to be nonresponsive to imatinib therapy

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance. Presentation typically occurred between 12 and 36 months. In addition to the two disease-defining features of spondylometaphyseal dysplasia and hypomyelination on MRI, common clinical signs and symptoms included motor deterioration, spasticity, tremor, ataxia, dysarthria, cognitive defects, pulmonary hypertension, nystagmus, and vision loss due to retinopathy. The course of the disease was slowly progressive. All patients had maternally inherited or de novo mutations in or near exon 7 of AIFM1, within a region of 70 bp, including synonymous and intronic changes. AIFM1 mutations have previously been associated with neurologic presentations as varied as intellectual disability, hearing loss, neuropathy, and striatal necrosis, while AIFM1 mutations in this small region present with a distinct phenotype implicating bone. Analysis of cell lines derived from four patients identified significant reductions in AIFM1 mRNA and protein levels in osteoblasts. We hypothesize that AIFM1 functions in bone metabolism and myelination and is responsible for the unique phenotype in this condition.</p

Transition to Subspecialty Sign-Out at an Academic Institution and Its Advantages

Many pathology departments are introducing subspecialty sign-out in surgical pathology. In 2014, the University of Vermont Medical Center transitioned from general sign-out to partial subspecialty sign-out to include gastrointestinal and breast/cervix subspecialty benches; other specimens remained on general benches. Our experiences with the transition are described, including attending pathologist, trainee, support staff, and clinician satisfaction. A survey was e-mailed to all University of Vermont Medical Center anatomic pathology attendings, pathology trainees, pathologist assistants and grossing technicians, and clinicians who send surgical pathology specimens, immediately before and 1 year after transitioning to partial subspecialty sign-out. Quality assurance metrics were obtained for the 18 months prior to and following the transition. Gastrointestinal and breast/cervix attendings were more satisfied with partial subspecialty sign-out compared to those on the general benches. Overall, trainees were more satisfied with general sign-out because of the rotation schedule but preferred partial subspecialty sign-out due to improved teaching and more focused learning while on subspecialty benches. Clinicians remained very satisfied with our department and our reports; no differences were observed. Turnaround time was unchanged. After switching to partial subspecialty sign-out, there were significantly fewer discrepancies following multidisciplinary conference review for gastrointestinal and breast/cervix cases but remained the same for general cases. Fewer formal internal consults were performed after transitioning to partial subspecialty sign-out across all areas, but more notable for gastrointestinal and breast/cervix cases. Our data show improved quality assurance metrics and trainee education in a subspecialty sign-out setting compared to general sign-out setting