Author Interviews, Dermatology, Genetic Research / 20.11.2020
Skin Conditions Associated with Down Syndrome
MedicalResearch.com Interview with:
[caption id="attachment_56009" align="alignleft" width="134"] Dr. Rork[/caption]
Jillian F. Rork, MD
Assistant Professor of Dermatology
Dartmouth-Hitchcock Medical Center at Manchester and
The Geisel School of Medicine
Society for Pediatric Dermatology Member
MedicalResearch.com: What is the background for this study? Would you briefly explain the genetic condition of Down syndrome?
Response: Down syndrome is the most common chromosomal abnormality, occurring in approximately 1 in 700 newborns in the United States. Trisomy of chromosome 21 can result in multisystem involvement such as hearing loss, heart defects, autoimmune conditions and dementia.
This study focuses on how trisomy 21 affects one of the body’s largest organs, the skin. Current literature addressing dermatologic conditions associated with Down syndrome is limited. There is often emphasis on rare skin conditions such as elastosis perforans serpiginosa, milia-like idiopathic calcinosis cutis, and eruptive syringomas. There is lack of consensus on incidence of more common disorders. We performed a retrospective chart review of 101 patients with Down syndrome in our dermatology practice at the University of Massachusetts to better describe associated skin conditions.
Dr. Rork[/caption]
Jillian F. Rork, MD
Assistant Professor of Dermatology
Dartmouth-Hitchcock Medical Center at Manchester and
The Geisel School of Medicine
Society for Pediatric Dermatology Member
MedicalResearch.com: What is the background for this study? Would you briefly explain the genetic condition of Down syndrome?
Response: Down syndrome is the most common chromosomal abnormality, occurring in approximately 1 in 700 newborns in the United States. Trisomy of chromosome 21 can result in multisystem involvement such as hearing loss, heart defects, autoimmune conditions and dementia.
This study focuses on how trisomy 21 affects one of the body’s largest organs, the skin. Current literature addressing dermatologic conditions associated with Down syndrome is limited. There is often emphasis on rare skin conditions such as elastosis perforans serpiginosa, milia-like idiopathic calcinosis cutis, and eruptive syringomas. There is lack of consensus on incidence of more common disorders. We performed a retrospective chart review of 101 patients with Down syndrome in our dermatology practice at the University of Massachusetts to better describe associated skin conditions.
Dr. Kubik[/caption]
Martha Kubik, Ph.D., R.N.
Professor and director of the School of Nursing
College of Health and Human Services at George Mason University
USPSTF Task Force Member
MedicalResearch.com: What is the background for this study? What are the main findings? Has the recommendation changed over the last decade?
Response: High blood pressure is becoming more common among children and teens in the United States and can have serious negative health effects in childhood and adulthood, such as kidney and heart disease. However, there is not enough research to know whether treating high blood pressure in young people improves cardiovascular health in adulthood.
The Task Force continued to find that there is not enough evidence to recommend for or against screening for high blood pressure in children and teens who do not have signs or symptoms.
Dr. Vazza
Dr. Barrett[/caption]
Emily Barrett, PhD
Associate Professor
Department of Biostatistics and Epidemiology
Rutgers School of Public Health
MedicalResearch.com: What is the background for this study?
Response: We started this study in the very early stages of the pandemic to look at SARS-CoV-2 viral transmission and disease severity in health care workers as compared to non-health care workers. There was a tremendous amount of fear and uncertainty about the virus and the early anecdotal reports coming out of China and Italy highlighted the plight of many frontline health care workers who had been infected on the job. We knew that our U.S. health care workers would soon be facing this tremendous challenge. We started this study to examine risks of infection in our vulnerable frontline health care workers and a comparison group of non-health care workers. Our results are from the early stages of the U.S. pandemic in March-April 2020.
![MedicalResearch.com Interview with: Jeffrey D. Kent, M.D., FACG, FACP Executive Vice President, Medical Affairs and Outcomes Research Horizon MedicalResearch.com: What is the background for this study? What is the marker for reduced immunogenicity with Pegloticase? Response: Pegloticase is a recombinant, pegylated uricase that is used for treatment of chronic gout in patients who fail oral urate lowering therapy (uncontrolled gout) and has a demonstrated impact on the serum uric acid (sUA) level. As with other biologics, in some people the body’s immune system develops anti-drug antibodies and reduces the effectiveness of the biologic therapy. Recent case series and open-label trials have suggested that using an immunomodulator with pegloticase has the potential to increase the durability of response so patients can receive a full course of therapy. Researchers in the RECIPE trial sought to examine whether the co-administration of disease-modifying antirheumatic drugs (DMARDs), specifically mycophenolate mofetil, may mitigate this loss of efficacy and increase in response rates for people living with uncontrolled gout MedicalResearch.com: Are symptoms of gout improved as well as reduced infusion reactions? Response Results from this trial indicated that short-term concomitant use of mycophenolate mofetil with pegloticase was generally well tolerated. It was also associated with a statistically significant and clinically meaningful impact on the proportion of patients achieving and maintaining an sUA ≤6 mg/dL at 24 weeks. No infusion reactions were reported in the pegloticase/mycophenolate mofetil arm (0 or 22 patients) compared to 30 percent (3 of 10) of patients reporting infusion reactions in the pegloticase/placebo arm. It’s been well established that in patients receiving pegloticase with persistent urate lowering, they experience relatively rapid resolution of tophi indicating significant reductions in their urate burden. MedicalResearch.com: What are the main findings? Response: This is the first randomized controlled trial evaluating pegloticase co-prescribed with an immunomodulator compared to pegloticase with placebo. Data showed that 86.4 percent of patients (19 of 22) receiving co-therapy of pegloticase with mycophenolate mofetil achieved an sUA ≤ 6 mg/dL through Month 3, the primary study endpoint, compared to 40.0 percent of patients (4 of 10) receiving pegloticase monotherapy. After Month 3, all patients received pegloticase only and at Month 6 a sustained response was shown in 68.2 percent (15 of 22) of patients who had received pegloticase with mycophenolate mofetil versus 30.0 percent (3 of 10) of patients who received pegloticase and placebo. This data adds to the growing body of evidence on the concomitant use of pegloticase with an immunomodulator to ultimately help more patients receive a full course of therapy and improve outcomes and may help shift the treatment paradigm in uncontrolled gout. MedicalResearch.com: What should readers take away from your report? Response: While rheumatologists are familiar with and may use DMARDs for other autoimmune conditions to minimize the development of anti-drug antibodies and increase response to therapies, data shows that the use of an immunomodulating therapy in patients with uncontrolled gout can improve response rates. MedicalResearch.com: What recommendations do you have for future research as a result of this work? Response: There is a consistent pattern demonstrating that the concomitant use of pegloticase and an immunomodulator can improve patient outcomes without introducing additional toxicities. As clinicians we understand the immense burden gout places on our patients. Future research should continue exploring options to maximize the benefit of effective treatments to improve patient outcomes. MedicalResearch.com: Is there anything else you would like to add? Response: Uncontrolled gout is a chronic, systemic inflammatory condition and we continue to see data linking it to many comorbid conditions. Horizon is evaluating the use of methotrexate to improve response rates for pegloticase. We are committed to exploring various immunotherapy co-treatment options to allow both patients and clinicians to address elevated sUA levels to minimize urate burden and avoid lasting damage to the body. RECIPE is an investigator-initiated trial led by Puja Khanna, M.D., M.P.H. and Kenneth Saag, M.D., M.Sc. Citation: Khanna P, Khanna D, Cutter G, Foster J, Melnick J, Jaafar S, Biggers S, Rahman A, Kuo H, Feese M, Saag K. Reducing Immunogenicity of Pegloticase (RECIPE) with Concomitant Use of Mycophenolate Mofetil in Patients with Refractory Gout—a Phase II Double Blind Randomized Controlled Trial [abstract]. Arthritis Rheumatol. 2020; 72 (suppl 10). https://acrabstracts.org/abstract/reducing-immunogenicity-of-pegloticase-recipe-with-concomitant-use-of-mycophenolate-mofetil-in-patients-with-refractory-gout-a-phase-ii-double-blind-randomized-controlled-trial/. Accessed November 12, 2020. [subscribe] Last Modified: [last-modified] The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.](https://medicalresearch.com/wp-content/uploads/2020/11/Dr-Jeffrey-Kent.jpg)
Prof. Pottel[/caption]
Prof. Dr. Hans Pottel PhD
Professeur Invité (titre honorifique)
Faculté de Médecine
Université de Liège
KULeuven-KULAK, Kortrijk, Belgium
MedicalResearch.com: What is the background for this study? Why do we need a new GFR?
Response: The currently recommended equations have flaws, mainly because there is one equation (CKiD) recommended for children, and one recommended (CKD-EPI) for adults (by KDIGO). When transitioning from pediatric nephrology care to adult nephrology care, the switch from CKiD to CKD-EPI causes implausible jumps (of more than 50%), mainly because CKD-EPI largely overestimates GFR in young adults (18-30 years). The new equation overcomes this problem as it applies for all ages (for children and adults) and overcomes the known flaws of the currently most used equations. The new equation is less biased and more precise across the full age spectrum and for the full range of serum creatinine concentrations.
The equation was developed in 11 251 participants from 7 cohorts (development and internal validation datasets) and validated in 8 378 participants from 6 cohorts (external validation dataset). Data were coming from European and American nephrology centers. No patients of African-American ancestry were included. Actually, the previously published FAS-equation served as the basic mathematical form for the equation, but we adjusted the power coefficients for serum creatinine (very much like it was done in the CKD-EPI equation). You could say that we used properties of both the FAS and CKD-EPI equation to come to an improved equation to estimate GFR.
Dr. Ganson[/caption]
Kyle T. Ganson, PhD, MSW
Assistant Professor, Factor-Inwentash Faculty of Social Work
University of Toronto
Toronto, Canada
[caption id="attachment_55902" align="alignleft" width="132"]
Dr. Nagata[/caption]
Jason Nagata, MD, MSc
Assistant Professor of Pediatrics
University of California, San Francisco
San Francisco, California, USA
MedicalResearch.com: What is the background for this study?
Response: A quarter of young adults in the US have reported being unemployed during the COVID-19 pandemic. Young adults may be especially affected by employment loss as they often work in industries most adversely affected by social distancing.
MedicalResearch.com: What are the main findings?
Response: Among a sample of nearly 5,000 young adults age 18 to 26 in the US, we found that since March 2020, young adults who lost their job or were part of a household that experienced employment loss were more likely than those with secure employment to experience four common symptoms of anxiety and depression. This was also true of young adults who expected an employment loss in the next four weeks. The study also found that symptoms of anxiety and depression were common among the sample of young adults. In the seven days prior to the survey, 75% reported being nervous, anxious or on edge, 68% reported not being able to stop or control worrying, 67% reported having little interest or pleasure in doing things, and 64% reported feeling down, depressed, or hopeless.
Dr. Al Rifai[/caption]
Mahmoud Al Rifai, MD, MPH
Cardiovascular Disease Fellow
Baylor College of Medicine Houston, TX
[caption id="attachment_55680" align="alignleft" width="150"]
Dr. Virani[/caption]
Salim S. Virani, MD, PhD, FACC, FAHA, FASPC
Professor, Section of Cardiovascular Research
Director, Cardiology Fellowship Training Program
Baylor College of Medicine
Staff Cardiologist, Michael E. DeBakey Veterans Affairs Medical Center
Co-Director, VA Advanced Fellowship in Health Services Research & Development at the Michael E. DeBakey VA Medical Center
Investigator, Health Policy, Quality and Informatics Program
Michael E. DeBakey Veterans Affairs Medical Center HSR&D Center of Innovation Houston, TX
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: E-cigarettes have gained popularity since their introduction in the U.S. market nearly 20 years ago and their use has increased especially among younger adults. On the other hand, public health efforts aimed at curbing tobacco use over the past few decades have resulted in a decrease in cigarette use. However, state-specific laws and regional cultural differences with regards to perception of these products may result in variability in tobacco use patterns. We therefore evaluate temporal changes in e-cigarette and cigarette use in each U.S. state between the years 2016 to 2018.
Prof Jeffrey S Tobias, Prof Jayant S Vaidya, Prof Max Bulsara. and Prof Michael Baum[/caption]
Response: The findings of the large international randomised trial (TARGIT-A trial), published in the British Medical Journal (
