Genetic Cause and Clinical Cure Found For Rare Skin Disorder

MedicalResearch.com Interview with:

Keith Adam Choate, MD, PhD, FAAD Associate Professor of Dermatology, of Genetics and of Pathology Director of Research, Dermatology Yale University School of Medicine New Haven, CT

Dr Choate

Keith Adam Choate, MD, PhD, FAAD
Associate Professor of Dermatology,
Genetics and Pathology
Director of Research, Dermatology
Yale University School of Medicine
New Haven, CT

MedicalResearch.com: What is the background for this study? What are the main findings?

Response:  Over the last 10 years, we have systematically been examining patients with ichthyosis to identify new genetic causes of this group of disorders.  We found that autosomal recessive mutations in KDSR cause ichthyosis and that the resulting skin disease is effectively treated with isotretinoin.

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Phase 3 Studies Demonstrate Reduce Endometriosis-Associated Pain with Elagolix

MedicalResearch.com Interview with:

Hugh S. Taylor, M.D. Anitta O’keeffe Young Professor and Chair Departemnt of Obstetrics, Gynecology and Reproductive Sciences Yale School of Medicine Chief of Obstetrics and Gynecology Yale-New Haven Hospital

Dr. Taylor

Hugh S. Taylor, M.D.
Anitta O’keeffe Young Professor and Chair
Departemnt of Obstetrics, Gynecology and Reproductive Sciences
Yale School of Medicine
Chief of Obstetrics and Gynecology
Yale-New Haven Hospital

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Elagolix is an investigational, oral gonadotropin-releasing hormone (GnRH) receptor antagonist that blocks endogenous GnRH signaling by binding competitively to GnRH receptors. Administration results in rapid, reversible, dose-dependent inhibition of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) secretion, leading to reduced ovarian production of the sex hormones, estradiol and progesterone, while on therapy.

Data from two replicate Phase 3 studies evaluating the efficacy and safety of elagolix were published in the New England Journal of Medicine. Elagolix demonstrated dose-dependent superiority in reducing daily menstrual and non-menstrual pelvic pain associated with endometriosis compared to placebo. At month three and month six, patients treated with elagolix reported statistically significant reductions in scores for menstrual pain (dysmenorrhea, DYS) and non-menstrual pelvic pain (NMPP) associated with endometriosis as measured by the Daily Assessment of Endometriosis Pain scale. The safety profile of elagolix was consistent across both Phase 3 trials and also consistent with prior elagolix studies.

Ultimately, the studies showed that both elagolix doses (150 mg QD and 200 mg BID) were effective in improving dysmenorrhea, non-menstrual pelvic pain and quality of life over 6 months in women with endometriosis-associated pain. The elagolix safety/tolerability profile was consistent with the mechanism of action.

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Fewer Heart Attacks and Strokes After Trans-Fat Restriction Laws in New York

MedicalResearch.com Interview with:

Eric J. Brandt, MD Yale University Cardiovascular Disease Fellow

Dr. Eric Brandt

Eric J. Brandt, MD
Yale University
Cardiovascular Disease Fellow

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: From previous studies we know that industrial trans fatty acid (trans fat) consumption is linked to elevated risk for cardiovascular disease. Even small amounts of consumption can be deleterious to cardiovascular health. In New York state, there were 11 counties that restricted the use of trans fatty acids in eateries. We compared hospitalization for heart attacks and stroke from 2002 through 2013 in counties that did and did not have restrictions.

Our study found that when comparing populations within New York state that restricted the use of trans fat, compared to those that did not, there was an associated additional decline beyond temporal trends for heart attacks and stroke events combined by 6.2%.

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End-of-Life Care Transition Patterns of Medicare Beneficiaries

MedicalResearch.com Interview with:
Shi-Yi Wang MD, PhD.

Department of Chronic Disease Epidemiology
Yale School of Public Health
New Haven, CT

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Care at the end of life is often fragmented and poorly coordinated across different health providers. Multiple transitions in care settings can be burdensome to patients and their families as well as costly to society. Despite these concerns about care transitions in the end of life, we lack contemporary data on the number, timing, and overall pattern of healthcare transitions in the last 6 months of life.

This study adds to the extant literature by understanding transition trajectories, national variation of the transitions, and factors associated with transitions. We found that more than 80% of Medicare fee-for-service decedents had at least one health care transition and approximately one-third had ≥ 4 transitions in the last 6 months of life. We produced Sankey diagrams to visualize the sequences of healthcare transitions. The most frequent transition pattern involving at least four transitions: home-hospital-home (or skilled nursing facility)-hospital-healthcare setting other than hospital. There was substantial geographic variation in healthcare transitions in the United States. We found that several factors were associated with a significantly increased risk of having multiple transitions, including female gender, blacks, residence in lower income areas, presence of heart disease or kidney disease.

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Gene Expression-based Breast Cancer Index Can Improve Decision Making For ER+ Patients

MedicalResearch.com Interview with:

Tara Sanft, MD Assistant Professor of Medicine (Medical Oncology) Medical Director of Adult Survivorship Yale Cancer Center Survivorship Clinic

Dr. Tara Sanft

Tara Sanft, MD
Assistant Professor of Medicine (Medical Oncology)
Medical Director of Adult Survivorship
Yale Cancer Center Survivorship Clinic 

MedicalResearch.com: What is the background for this study?

Response: Previous studies have demonstrated the benefit of extended endocrine therapy (EET) for hormone receptor-positive (HR+) breast cancer in preventing late relapse, however that benefit is limited to 3-5% of women where late recurrence was prevented or staved off. However, EET has become common practice and as a result we are exposing many patients to risks of side effects and toxicities associated with anti-estrogen therapies when they may not be benefitting, and, conversely may not be treating the patients that might actually benefit. There is a real need to better identify the patients who are both at most risk of late distant recurrence, and most likely to benefit from EET.

This prospective study included 141 patients with a mean age of 62. In the study, 83% of patients were postmenopausal, 73% were stage I.

Breast Cancer Index (BCI) is a gene expression-based test and is the only currently available validated biomarker that is both prognostic for late distant recurrence and predictive for likelihood of benefit from EET. The purpose of this prospective study was to assess the impact of BCI on: physician EET recommendations; physician confidence; patient satisfaction, anxiety, and decision-conflict; and the cost impact of BCI.

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Racial Disparities in Genetic Testing of Women With Breast Cancer

MedicalResearch.com Interview with:

Cary P. Gross, MD Section of General Internal Medicine Yale University School of Medicine New Haven, CT

Dr. Cary Gross

Cary P. Gross, MD
Section of General Internal Medicine
Yale University School of Medicine
New Haven, CT

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Prior work has demonstrated racial and socioeconomic disparities in breast cancer diagnosis, treatment, and outcomes.  As the oncology field has progressed over the past decade, the use of genetic testing to guide treatment decisions is one of the most exciting new developments.

Our team was concerned that these new gene tests, which can offer important benefits, may have the potential to exacerbate disparities further.  That is, if there is unequal access to gene testing among patients for whom it is recommended, then our progress against cancer will not be equitably shared among people of all races and ethnicities.

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Membership In Medical Schools’ Honor Society Skews Toward White Students

MedicalResearch.com Interview with:

Dowin Boatright, MD, MBA</strong> Department of Emergency Medicine Yale School of Medicine New Haven, Connecticut Fellow, Robert Wood Johnson Clinical Scholars Program Veterans Affairs Scholar

Dr. Dowin Boatright

Dowin Boatright, MD, MBA
Department of Emergency Medicine
Yale School of Medicine
New Haven, Connecticut
Fellow, Robert Wood Johnson Clinical Scholars Program
Veterans Affairs Scholar

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Studies have demonstrated racial and ethnic inequities in medicine, including disparities in the receipt of awards, research funding, and promotions. Yet few studies have examined the link between race and ethnicity and opportunities for medical school students.

Our results show that black and Asian medical school students are less likely to be selected for membership in a prestigious medical honor society, Alpha Omega Alpha (AΩA), than white medical school students.

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Antidepressants Have Variable Effects On Symptom Clusters

MedicalResearch.com Interview with:

Adam Chekroud PhD Candidate Human Neuroscience Lab

Adam Chekroud

Adam Chekroud
PhD Candidate
Human Neuroscience Lab
Department of Psychology
Yale University

MedicalResearch.com: What is the background for this study?

Response: We know that depression includes a wide range of symptoms, from low mood and feeling worthless, to problems sleeping, slowed thinking, and suicidal ideation.

We wanted to know whether antidepressants work well in treating all of these symptoms, or whether they are primarily effective on certain kinds of symptoms.

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Hospital Readmissions Fell After Penalties Instituted But Then Plateaued

MedicalResearch.com Interview with:
Nihar R. Desai, MD, MPH

Assistant Professor of Medicine
Section of Cardiovascular Medicine, Yale School of Medicine
Center for Outcomes Research and Evaluation
Yale New Haven Health System

MedicalResearch.com: What is the background for this study?

Response: Reducing rates of readmissions after hospitalization has been a major focus for patients, providers, payers, and policymakers because they reflect, at least partially, the quality of care and care transitions, and account for substantial costs. The Hospital Readmission Reduction Program (HRRP) was enacted under Section 3025 of the Patient Protection and Affordable Care Act (ACA) in March 2010 and imposed financial penalties beginning in October 2012 for hospitals with higher than expected readmissions for acute myocardial infarction (AMI), congestive heart failure (HF), and pneumonia among their fee-for-service Medicare beneficiaries. In recent years, readmission rates have fallen nationally, and for both target (AMI, HF, pneumonia) and non-target conditions.

We were interested in determining whether the Hospital Readmission Reduction Program (HRRP) associated with different changes in readmission rates for targeted and non-targeted conditions for penalized vs non-penalized hospitals?

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Neuroanatomy Accounts for Age-Related Changes in Risk Preferences.

MedicalResearch.com Interview with:
Ifat Levy, PhD

Associate Professor
Comparative Med and Neuroscience
Yale School of Medicine

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: The proportion of older adults in the population is rapidly rising. These older adults need to make many important decisions, including medical and financial ones, and therefore understanding age-related changes in decision making is of high importance. Prior research has shown that older adults tend to be more risk averse than their younger counterparts when making choices between sure gains and lotteries. For example, asked to choose between receiving $5 for sure and playing a lottery with 50% of gaining $12 (but also 50% of gaining nothing), older adults are more likely than young adults to prefer the safe $5. We were interested in understanding the neurobiological mechanisms that are involved in these age-related shifts in preferences.

An earlier study that we have conducted in young adults provided a clue. In that study, we measured the risk preference of each participant (based on a series of choices they made between safe and risky options), and also used MRI to obtain a 3D image of their brain. Comparing the behavioral and anatomical measures, we found an association between individual risk preferences and the gray-matter volume of a particular brain area, known as “right posterior parietal cortex” (rPPC), which is located at the back of the right side of the brain. Participants with more gray matter in that brain area were, on average, more tolerant of risk (or less risk averse).

This suggested a very interesting possibility – that perhaps the increase in risk aversion observed in older adults is linked to the thinning of gray matter which is also observed in elders. In the current study we set out to test this hypothesis, by measuring risk preference and gray matter density in a group of 52 participants between the ages of 18 and 88. We found that, as expected, older participants were more risk averse than younger ones, and also had less gray matter in their rPPC. We also replicated our previous finding – that less gray matter was associated with higher risk aversion. The critical finding, however, was that the gray matter volume was a better predictor of increased risk aversion than age itself.  Essentially, if both age and the gray matter volume of rPPC were used in the same statistical model, rPPC volume predicted risk preferences, while age did not. Moreover, the predictive power was specific to the rPPC – when we added the total gray matter volume to the model, it did not show such predictive power.

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