Where Is My Mama

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SNE-PTN Attends CMS Transforming Clinical Practice Initiative National Expert Panel 2018

Practice transformation networks from across the country are going public with their successful results on patients and clinical practices. UMass Medical School’s Southern New England Practice Transformation Network (SNE-PTN) was one of the networks sharing its positive outcomes

SNE-PTN initiative helps optometrists keep thousands of patients out of the Emergency Department

It’s a common scenario: a patient injures his eye, self-refers to the Emergency Department, and receives treatment from a doctor who does not specialize in optometry. The result? Higher medical bills to address an ocular trauma that could have been successfully treated in an optometrist’s office. The Southern New England Practice Transformation Network (SNE-PTN) led by the University of Massachusetts Medical School and UConn Health, is addressing this costly issue head on with its Emergency Department Avoidance initiative, and the results are astounding

The Right Care, The Right Place, The Right Time: Emergency Department Avoidance Across the U.S.

Optometrists across the country enrolled in the Southern New England Practice Transformation Network (SNE-PTN) have helped 22,765 patients avoid the Emergency Department, according to data reported from October 2017 through February 2018. That’s 4,445 patients per month who did not have to visit the Emergency Department because of SNE-PTN’s Emergency Department Avoidance initiative. SNE-PTN is led by the University of Massachusetts Medical School and UConn Health

Ottawah : Ottawa

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The association of COMT genotype with buproprion treatment response in the treatment of major depressive disorder

Background Pharmacodynamics and pharmacogenetics are being explored in pharmacological treatment response for major depressive disorder (MDD). Interactions between genotype and treatment response may be dose dependent. In this study, we examined whether MDD patients with Met/Met, Met/Val, and Val/Val COMT genotypes differed in their response to bupropion in terms of depression scores. Methods This study utilized a convenience sample of 241 adult outpatients (≥18 years) who met DSM‐5 criteria for MDD and had visits at a Midwest psychopharmacology clinic between February 2016 and January 2017. Exclusion criteria included various comorbid medical, neurological, and psychiatric conditions and current use of benzodiazepines or narcotics. Participants completed genetic testing and the 9 question patient‐rated Patient Health Questionnaire (PHQ‐9) at each clinic visit (M = 3.8 visits, SD = 1.5) and were prescribed bupropion or another antidepressant drug. All participants were adherent to pharmacotherapy treatment recommendations for >2 months following genetic testing. Results Participants were mostly Caucasian (85.9%) outpatients (154 female and 87 male) who were 44.5 years old, on average (SD = 17.9). For Val carriers, high bupropion doses resulted in significantly lower PHQ‐9 scores than no bupropion (t(868) = 5.04, p < .001) or low dose bupropion (t(868) = 3.29, p = .001). Val carriers differed significantly from Met/Met patients in response to high dose bupropion (t(868) = −2.03, p = .04), but not to low dose bupropion. Conclusion High‐dose bupropion is beneficial for MDD patients with Met/Val or Val/Val COMT genotypes, but not for patients with Met/Met genotype. Prospective studies are necessary to replicate this pharmacodynamic relationship between bupropion and COMT genotypes and explore economic and clinical outcomes

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.

UnlabelledMigalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently approved, biologics-based therapy for Fabry disease is enzyme replacement therapy (ERT) with either agalsidase alfa (Replagal) or agalsidase beta (Fabrazyme). Based on preclinical data, migalastat HCl in combination with agalsidase is expected to result in the pharmacokinetic (PK) enhancement of agalsidase in plasma by increasing the systemic exposure of active agalsidase, thereby leading to increased cellular levels in disease-relevant tissues. This Phase 2a study design consisted of an open-label, fixed-treatment sequence that evaluated the effects of single oral doses of 150 mg or 450 mg migalastat HCl on the PK and tissue levels of intravenously infused agalsidase (0.2, 0.5, or 1.0 mg/kg) in male Fabry patients. As expected, intravenous administration of agalsidase alone resulted in increased α-Gal A activity in plasma, skin, and peripheral blood mononuclear cells (PBMCs) compared to baseline. Following co-administration of migalastat HCl and agalsidase, α-Gal A activity in plasma was further significantly increased 1.2- to 5.1-fold compared to agalsidase administration alone, in 22 of 23 patients (95.6%). Importantly, similar increases in skin and PBMC α-Gal A activity were seen following co-administration of migalastat HCl and agalsidase. The effects were not related to the administered migalastat HCl dose, as the 150 mg dose of migalastat HCl increased α-Gal A activity to the same extent as the 450 mg dose. Conversely, agalsidase had no effect on the plasma PK of migalastat. No migalastat HCl-related adverse events or drug-related tolerability issues were identified.Trial registrationClinicalTrials.gov NCT01196871

The driver landscape of sporadic chordoma.

Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases. These variants recapitulate the rearrangement architecture of the pathogenic germline duplications of T that underlie familial chordoma. In addition, we find potentially clinically actionable PI3K signalling mutations in 16% of cases. Intriguingly, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represent a novel cancer gene in chordoma.Chordoma is a rare often incurable malignant bone tumour. Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutations in LYST, a potential novel cancer gene in chordoma

The last three minutes: Issues in gravitational-wave measurements of coalescing compact binaries

Gravitational-wave interferometers are expected to monitor the last three minutes of inspiral and final coalescence of neutron star and black hole binaries at distances approaching cosmological, where the event rate may be many per year. Because the binary’s accumulated orbital phase can be measured to a fractional accuracy ≪10^-3 and relativistic effects are large, the wave forms will be far more complex and carry more information than has been expected. Improved wave form modeling is needed as a foundation for extracting the waves’ information, but is not necessary for wave detection