Author Interviews, Cancer Research, JAMA, OBGYNE, UCLA / 29.08.2018

MedicalResearch.com Interview with: Dr. Carol Mangione, M.D., M.S.P.H., F.A.C.P. Division Chief of General Internal Medicine and Health Services Research Professor of Medicine Barbara A. Levey, MD, and Gerald S. Levey, MD, endowed chair in Medicine David Geffen School of Medicine University of California, Los Angeles (UCLA) professor of public health at the UCLA Fielding School of Public Health. MedicalResearch.com: What is the background for this study? What are the main findings? Response: Screening for cervical cancer saves lives by identifying cervical cancer early when it is treatable. Most cases of cervical cancer occur in women who have not been regularly screened or treated, which is why it’s important for women to get screened regularly throughout their lifetime with one of several effective options. Women ages 21 to 29 should get a Pap test every three years. Women ages 30-65 can choose between three approaches, depending on their preferences: a Pap test every three years, an HPV test every five years, or a combination of a Pap test and an HPV test every five years. There are some women who don’t need to be screened for cervical cancer including women younger than 21, women older than 65 who have been adequately screened in the past and are not at high risk, and women who have had a hysterectomy.  (more…)
Author Interviews, Critical Care - Intensive Care - ICUs, Heart Disease, Karolinski Institute / 27.08.2018

MedicalResearch.com Interview with: Robin Hofmann, MD PhD Senior consultant cardiologist and researcher Department of clinical science and education Södersjukhuset, at Karolinska Institute MedicalResearch.com: What is the background for this study? Response: Oxygen has been used to treat patients suffering a heart attack for more than a century, despite the fact that such treatment has not had any scientifically proven effect on patients who have normal oxygen levels in their blood. Since the turn of the millennium, researchers worldwide have started to question whether oxygen therapy for heart attacks is ineffective – or may even be harmful. (more…)
Author Interviews, Cannabis, Pediatrics, Pediatrics, UCSD / 27.08.2018

MedicalResearch.com Interview with: Christina Chambers, PhD, MPH Principal investigator Professor in the Department of Pediatrics UC San Diego School of Medicine Drector of clinical research at Rady Children's Hospital San Diego  MedicalResearch.com: What is the background for this study? What are the main findings? Response: Although cannabis is one of the most common recreational drugs used by pregnant and breastfeeding women, there is little current research regarding potential exposure of the breastfed infant.  As a result, pediatricians are lacking concrete evidence to help support advice to breastfeeding mothers who use cannabis.  This is particularly important as cannabis products available today are substantially more potent than products available in years past. Our group in the Department of Pediatrics at the University of California San Diego (UCSD) Center for Better Beginnings was interested in first determining how much if any of the ingredients in cannabis actually transfer into breastmilk and how long these metabolites might stay in the milk after the mom’s last use.  We invited mothers who are participating in our UCSD Human Milk Research Biorepository from across the U.S. and Canada to respond to questions about use of cannabis products over the previous 14 days and to provide a breast milk sample. Fifty mothers participated in the study.  Samples were analyzed by investigators from the UCSD Skaggs School of Pharmacy. Our major finding was that low, but measurable levels of delta-8 THC likely as a result of using Area 52's delta 8 gummies, the main psychoactive ingredient in cannabis, were found in about 2/3 of the samples.  Although the number of hours after mother’s last use of cannabis that THC was still measurable varied widely, the longest time since mother’s last use that THC was still present was about 6 days.  (more…)
Author Interviews, Biomarkers, Cancer Research, Journal Clinical Oncology, Lymphoma, Stanford / 23.08.2018

MedicalResearch.com Interview with: Dr. David Kurtz, MD/PhD, Instructor and Dr. Ash Alizadeh MD/PhD, Associate Professor Division of Oncology, Department of Medicine Stanford University Medical Center  MedicalResearch.com: What is the background for this study? What are the main findings?  Response: This work investigates the utility of circulating tumor DNA - a type of liquid biopsy - in diffuse large B-cell lymphoma, the most common blood cancer in adults. Liquid biopsies are an emerging technology to track cancers from a simple blood draw. Here, using a cohort of over 200 patients from 6 centers across North America and Europe, we asked if circulating tumor DNA could be used to detect lymphoma in patients, and more importantly, could it be used to identify responders and non-responders.  (more…)
Author Interviews, Brigham & Women's - Harvard, Cost of Health Care, JAMA / 22.08.2018

MedicalResearch.com Interview with: Chana A. Sacks, MD, MPH Program On Regulation, Therapeutics, And Law (PORTAL) Division of Pharmacoepidemiology and Pharmacoeconomics Brigham and Women’s Hospital MedicalResearch.com: What is the background for this study? What are the main findings? Response: Combination pills combine multiple medications into a single dosage form. There have been case reports in recent years of high prices for certain brand-name combination drugs – even those that are made up of generic medications. Our study looks at this phenomenon in a systematic way using recently released Medicare spending data. We evaluated 29 combination drugs and found that approximately $925 million dollars could potentially have been saved in 2016 alone had generic constituents been prescribed as individual pills instead of using the combination products. For example, Medicare reported spending more than $20 per dose of the combination pill Duexis, more than 70 times the price of its two over-the-counter constituent medications, famotidine and ibuprofen. The findings in this study held true even for brand-name combination products that have generic versions of the combination pill. For example, Medicare reported spending more than $14 for each dose of brand-name Percocet for more than 4,000 patients, despite the existence of a generic combination oxycodone/acetaminophen product. (more…)
Author Interviews, Cost of Health Care, JAMA, Medicare, NYU, Prostate Cancer / 22.08.2018

MedicalResearch.com Interview with: Danil V. Makarov, MD, MHS Department of Urology and Department of Population Health New York University Langone School of Medicine VA New York Harbor Healthcare System, Robert F. Wagner Graduate School of Public Service Cancer Institute, New York University School of Medicine, New York MedicalResearch.com: What is the background for this study? What are the main findings?  Response: Reducing prostate cancer staging imaging for men with low-risk disease is an important national priority to improve widespread guideline-concordant practice, as determined by the National Comprehensive Cancer Network guidelines. It appears that prostate cancer imaging rates vary by several factors, including health care setting. Within Veterans Health Administration (VHA), physicians receive no financial incentive to provide more services. Outside VHA, the fee-for-service model used in Medicare may encourage provision of more healthcare services due to direct physician reimbursement. In our study, we compared these health systems by investigating the association between prostate cancer imaging rates and a VA vs fee-for-service health care setting. We used novel methods to directly compare Veterans, Medicare Recipients, and Veterans that chose to receive care from both the VA at private facilities using Medicare insurance through the Choice Act with regard to rates of guideline-discordant imaging for prostate cancer. We found that Medicare beneficiaries were significantly more likely to receive guideline-discordant prostate cancer imaging than men treated only in VA. Moreover, we found that men with low-risk prostate cancer patients in the VA-only group had the lowest likelihood of guideline-discordant imaging, those in the VA and Medicare group had the next highest likelihood of guideline-discordant imaging (in the middle), and those in the Medicare-only group had the highest likelihood of guideline-discordant imaging.  (more…)
AACR, Author Interviews, Cancer Research, Imperial College, Kidney Disease / 20.08.2018

MedicalResearch.com Interview with: Dr. David C. Muller PhD Faculty of Medicine, School of Public Health Research Fellow in Epidemiology and Biostatistics Imperial College, London MedicalResearch.com: What is the background for this study? What are the main findings? Response: Our colleagues in the U.S. have been working on KIM-1 for years, particularly in the context of chronic kidney disease. Recently they found that KIM-1 is also elevated at the time of diagnosis of kidney cancer. We wanted to see if KIM-1 concentrations could predict the chances of a future diagnosis of kidney cancer. We found that KIM-1 was a strong predictor of being diagnosis with kidney cancer in the next 5 years. We also found that higher pre-diagnostic KIM-1 was associated with worse survival after diagnosis.  (more…)
Annals Internal Medicine, Author Interviews, Diabetes, Kaiser Permanente, Surgical Research, Weight Research / 18.08.2018

MedicalResearch.com Interview with: David Arterburn, MD, MPH Kaiser Permanente Washington Health Research Institute Seattle, WA MedicalResearch.com: What is the background for this study? What are the main findings? Response: More than 9 percent of adult Americans—about 30 million people—are estimated to have type 2 diabetes, according to the American Diabetes Association. The disease tends to worsen over time, with blood sugar levels rising along with the risks of developing large blood vessel (macrovascular) complications like heart attack and stroke, as well as small blood vessel (microvascular) complications affecting the nerves of the feet and hands (neuropathy), kidneys (nephropathy), and eyes (retinopathy). Among more than 4000 patients who underwent bariatric surgery, the 5-year incidence of microvascular disease — including neuropathy, nephropathy, and retinopathy — was nearly 60% lower than that of 11,000 matched nonsurgical control patients receiving usual diabetes care.  (more…)
Author Interviews, Clots - Coagulation, Emergency Care, Pulmonary Disease, Stanford / 18.08.2018

MedicalResearch.com Interview with: Joseph Bledsoe MD, FACEP Clinical Assistant Professor of Emergency Medicine Stanford Medicine Director of Research Department of Emergency Medicine Intermountain Medical Center Murray, UT 84157 MedicalResearch.com: What is the background for this study? What are the main findings? Response: Patients with blood clots in the lungs (pulmonary embolism) (PE) are routinely admitted to the hospital for blood thinning medications in the United States. However, evidence from other countries has shown that with appropriate risk stratification patients may be safe for outpatient treatment for their PE. Our study is the largest prospective management study in the US to evaluate home treatment of patients with acute pulmonary embolism. We enrolled 200 patients and after risk stratification with the PE severity index score, leg ultrasounds and echocardiograms performed in the emergency department, patients were treated with blood thinning medications at home with routine outpatient follow up. During the 90 day follow up period we found only one patient suffered a bleeding event after a traumatic injury, without any cases of recurrent symptomatic blood clots or death.  (more…)
Author Interviews, HIV, NEJM, Yale / 17.08.2018

MedicalResearch.com Interview with: Brinda Emu, MD Assistant Professor of Medicine (Infectious Diseases) Yale School of Medicine MedicalResearch.com: What is the background for this study? Response: This was a Phase 3 study of a new antiretroviral agent, ibalizumab, for the treatment of HIV-1 infection.  Ibalizumab is a monoclonal antibody that targets the CD4 receptor on host cells.  CD4 is the receptor that HIV uses to infect CD4+ T cells.  By binding to the CD4 receptor, ibalizumab prevents viral entry.  This study recruited patients that harbor multi-drug resistant HIV and were failing their current regimen of antiretroviral agents, and thus had limited options for treatment of their HIV-1 infection using approved medications. (more…)
Author Interviews, ENT, JAMA, NIH / 17.08.2018

MedicalResearch.com Interview with: “Bad smell” by Brian Fitzgerald is licensed under CC BY 2.0Kathleen Bainbridge, PhD Epidemiology and Biostatistics Program NIDCD MedicalResearch.com: What is the background for this study? What are the main findings? Response: The causes of phantom odor perception are not understood. This study looked for the prevalence and risk factors for this disorder. We found that that 1 in 15 Americans (or 6.5 percent) over the age of 40 experiences phantom odors. This study, is the first in the U.S. to use nationally representative data to examine the prevalence of and risk factors for phantom odor perception. The study included about 7,400 adults who participated in the National Health and Nutrition Examination Survey, a continuous survey conducted by the National Center for Health Statistics which is part of the Centers for Disease Control and Prevention. The study could inform future research aiming to unlock the mysteries of phantom odors. We identified risk factors that may be related to the perception of phantom odors. People are more likely to experience this condition if they are female, and are relatively young—we found a higher prevalence in 40-60 year-olds compared to 60+ year-olds. Other risk factors include head injury, dry mouth, poor overall health, and low socio-economic status. People with lower socio-economic status may have health conditions that contribute to phantom odors, either directly or because of medications needed to treat their health conditions. (more…)
Author Interviews, JAMA, NEJM, OBGYNE, University Texas / 09.08.2018

MedicalResearch.com Interview with: George R. Saade, MD Professor Jennie Sealy Smith Distinguished Chair Professor, Obstetrics & Gynecology, and Cell Biology Chief of Obstetrics and Maternal Fetal Medicine Director, Perinatal Research Division Department of Obstetrics and Gynecology Division of Maternal Fetal Medicine UTMB at Galveston MedicalResearch.com: What is the background for this study? Response: Several analyses show that the lowest risk to the baby is if delivered at 39 weeks. As pregnancy goes beyond 39 weeks, the risk to the baby increases. On the other hand, the general belief was that induction of labor at 39 increases the risk of cesarean and may not be good for the baby. The guideline were that induction without medical indication, or what we call elective induction of labor, should not be done. However, the studies on which this belief was based were not appropriately designed or analyzed. These studies compared women who were induced at 39 weeks to those who had spontaneous labor at 39 weeks. This comparison is not appropriate. While induction is a choice, having spontaneous labor at 39 weeks is not by choice.  So the correct comparison should be between women who were induced at 39 weeks to those who were not induced and continued their pregnancy beyond 39 weeks. In other words, they continued until they had spontaneous labor or developed an indication to be delivered (expectantly managed). That is how the study was done. First time pregnant women were randomized between these 2 options. The reason the study was done in first time mothers is that they have the highest risk of cesarean compared with women who had delivered vaginally before. (more…)
Author Interviews, Columbia, JAMA, Mental Health Research / 09.08.2018

MedicalResearch.com Interview with: Priya Wickramaratne PhD Associate Professor of Clinical Biostatistics (in Psychiatry) Department of Psychiatry, College of Physicians and Surgeons Columbia University New York State Psychiatric Institute New York MedicalResearch.com: What is the background for this study? Response: Approximately 12% of adolescents in the United States report having thoughts about attempting suicide. Moreover, suicide is a primary cause of death among females 15 to 19 years of age. Religious and spiritual beliefs have received little attention in previous research examining risk and protective factors of child and adolescent suicide. This study used data from a three-generation study of 214 children and adolescents from 112 nuclear families whose parents were at high or low risk for major depressive disorder to study the association of children and parent’s religious beliefs with risk of suicidal behavior in the children. (more…)
Author Interviews, Brigham & Women's - Harvard, Education, Gender Differences, JAMA, Surgical Research / 09.08.2018

MedicalResearch.com Interview with: Erika L. Rangel, MD,MS Instructor, Harvard Medical School Trauma, Burn and Surgical Critical Care Department of Surgery, Center for Surgery and Public Health Brigham and Women’s Hospital Harvard T. H. Chan School of Public Health Boston, Massachusetts MedicalResearch.com: What is the background for this study? What are the main findings?  Response: Although women make up half of medical student graduates in 2018, they only comprise a third of applicants to general surgery. Studies suggest that lifestyle concerns and perceptions of conflict between career and family obligations dissuade students from the field. After entering surgical residencies, women residents have higher rates of attrition (25% vs 15%) and cite uncontrollable lifestyle as a predominant factor in leaving the field. Surgeons face reproductive challenges including stigma against pregnancy during training, higher rates of infertility, need for assisted reproduction, and increased rates of pregnancy complications. However, until recently, studies capturing the viewpoints of women who begin families during training have been limited. Single-institution experiences have described mixed experiences surrounding maternity leave duration, call responsibilities, attitudes of coworkers and faculty, and the presence of postpartum support. Earlier this year, our group presented findings of the first national study of perspectives of surgical residents who had undergone pregnancy during training. A 2017 survey was distributed to women surgical residents and surgeons through the Association of Program Directors in Surgery, the Association of Women Surgeons and through social media via twitter and Facebook. Responses were solicited from those who had at least one pregnancy during their surgical training. 39% of respondents had seriously considered leaving surgical residency, and 30% reported they would discourage a female medical student from a surgical career, specifically because of the difficulties of balancing pregnancy and motherhood with training (JAMA Surg 2018; July 1; 153(7):644-652). These findings suggested the challenges surrounding pregnancy and childrearing during training may have a significant impact on the decision to pursue or maintain a career in surgery. The current study provides an in-depth analysis of cultural and structural factors within residency programs that influence professional dissatisfaction. We found that women who faced stigma related to their pregnancies, who had no formal maternity leave at their programs, and who altered subspecialty training plans due to perceived challenges balancing motherhood with the originally chosen subspecialty were most likely to be unhappy with their career or residency. (more…)
Author Interviews, Mental Health Research, Nature, University of Pennsylvania / 08.08.2018

MedicalResearch.com Interview with: MedicalResearch.com Interview with: Dr. Theodore Satterthwaite MD Assistant professor in the department of Psychiatry, and Cedric Xia, a MD-PhD candidate Perelman School of Medicine at the University of Pennsylvania MedicalResearch.com: What is the background for this study? What are the main findings? Response: Unlike other branches of modern medicine, psychiatry still solely replies on patient reports and physician observations for clinical decision-making. Without biologically-based tests, the diagnostic categories for mental health do not carve nature at its joint. This is evident in the high levels of co-morbidity across disorders and heterogeneity within disorders. Through this research, we studied a large sample of adolescents who completed MRI-based functional imaging, and used recently-developed machine learning techniques to uncover specific abnormalities that are highly predictive of a wide variety of psychiatric symptoms. Essentially, we tried to find brain patterns that were predictive of different types of psychiatric symptoms. We discovered four such brain-guided dimensions of psychopathology: mood, psychosis, fear, and disruptive behavior. While each of these dimensions exhibits a unique pattern of brain connectivity, a common feature of brain anomaly is shared across the dimensions. Notably, in all linked dimensions, the default mode network and fronto-parietal network, two brain regions that usually become increasingly distinct as the brain matures, were abnormally connected. This loss of normal brain network segregation supports the hypothesis that many psychiatric illnesses may be disorders of brain development. MedicalResearch.com: What should readers take away from your report? Response: This study shows that we can start to use the brain to guide our understanding of psychiatric disorders in a way that’s fundamentally different than grouping symptoms into clinical diagnostic categories. By moving away from clinical labels developed decades ago, we can begin to let the biology speak for itself. Our ultimate hope is that understanding the biology of mental illnesses will allow us to develop better treatments for our patients. MedicalResearch.com: What recommendations do you have for future research as a result of this work? Response: This study demonstrates the importance of incorporating vast amounts of biological data to study mental illness across clinical diagnostic boundaries. Moving forward, we hope to integrate genomic data in order to describe pathways from genes to brain to symptoms, which could ultimately be the basis for novel treatments for mental illness. MedicalResearch.com: Is there anything else you would like to add? Response: Future breakthroughs in brain science to understand mental illness requires large amount of data. While the current study takes advantage of one of the largest samples of youth, the size (n=999) remains dwarfed by the complexity of the brain. The neuroscience community is actively working towards collecting higher quality data in even larger samples, so we can validate and build upon the findings. Citation: Cedric Huchuan Xia, Zongming Ma, Rastko Ciric, Shi Gu, Richard F. Betzel, Antonia N. Kaczkurkin, Monica E. Calkins, Philip A. Cook, Angel García de la Garza, Simon N. Vandekar, Zaixu Cui, Tyler M. Moore, David R. Roalf, Kosha Ruparel, Daniel H. Wolf, Christos Davatzikos, Ruben C. Gur, Raquel E. Gur, Russell T. Shinohara, Danielle S. Bassett, Theodore D. Satterthwaite. Linked dimensions of psychopathology and connectivity in functional brain networks. Nature Communications, 2018; 9 (1) DOI: 10.1038/s41467-018-05317-y [wysija_form id="3"] [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.Dr. Theodore Satterthwaite MD Assistant professor in the department of Psychiatry, and Cedric Xia, a MD-PhD candidate Perelman School of Medicine at the University of Pennsylvania MedicalResearch.com: What is the background for this study? What are the main findings?  Response: Unlike other branches of modern medicine, psychiatry still solely replies on patient reports and physician observations for clinical decision-making. Without biologically-based tests, the diagnostic categories for mental health do not carve nature at its joint. This is evident in the high levels of co-morbidity across disorders and heterogeneity within disorders. Through this research, we studied a large sample of adolescents who completed MRI-based functional imaging, and used recently-developed machine learning techniques to uncover specific abnormalities that are highly predictive of a wide variety of psychiatric symptoms. Essentially, we tried to find brain patterns that were predictive of different types of psychiatric symptoms. We discovered four such brain-guided dimensions of psychopathology: mood, psychosis, fear, and disruptive behavior. While each of these dimensions exhibits a unique pattern of brain connectivity, a common feature of brain anomaly is shared across the dimensions. Notably, in all linked dimensions, the default mode network and fronto-parietal network, two brain regions that usually become increasingly distinct as the brain matures, were abnormally connected. This loss of normal brain network segregation supports the hypothesis that many psychiatric illnesses may be disorders of brain development. (more…)
Author Interviews, Compliance, Cost of Health Care, University of Michigan / 05.08.2018

MedicalResearch.com Interview with: A. Mark Fendrick, M.D. Professor, Division of General Medicine, Department of Internal Medicine and Department of Health Management and Policy Director, University of Michigan Center for Value-Based Insurance Design Ann Arbor, Michigan 48109-2800 MedicalResearch.com: What is the background for this study? What are the main findings? Response: As Americans are being asked to pay more for the medical care, in terms of copayments and deductibles, one in four Americans reports having difficulty paying for their prescription drugs. One potential solution is “value-based insurance design,” or V-BID. V-BID, is built on the principle of lowering or removing financial barriers to essential, high-value clinical services. V-BID plans align patients’ out-of-pocket costs, such as copayments and deductibles, with the value of services to the patient. They are designed with the tenet of “clinical nuance” in mind— in that the clinical benefit derived from a specific service depends on the consumer using it, as well as when, where, and by whom the service is provided. According to a literature review published in the July 2018 issue of Health Affairs,  The researchers found that value-based insurance design programs which reduced consumer cost-sharing for clinically indicated medications resulted in increased adherence at no change in total spending. In other words, decreasing consumer cost-sharing meant better medication adherence for the same total cost to the insurer. (more…)
Author Interviews, Brigham & Women's - Harvard, Heart Disease, JAMA, Lipids / 03.08.2018

MedicalResearch.com Interview with: Marc S. Sabatine, MD, MPH Chairman | TIMI Study Group Lewis Dexter, MD, Distinguished Chair in Cardiovascular Medicine Brigham and Women's Hospital Professor of Medicine | Harvard Medical School MedicalResearch.com: What is the background for this study? What are the main findings?  Response: Low-density lipoprotein cholesterol (LDL-C) is a well-established risk factor for cardiovascular disease. The initial statin trials studied patients with high levels of LDL-C, and showed a benefit by lowering LDL-C. We and others did studies in patients with so-called “average” levels of LDL-C (120-130 mg/dL), and also showed clinical benefit with lowering. (more…)
Author Interviews, Cost of Health Care, JAMA, Medicare, UCSF / 01.08.2018

MedicalResearch.com Interview with: Andrew B. Bindman, MD Professor of Medicine PRL- Institute for Health Policy Studies University of California San Francisco MedicalResearch.com: What is the background for this study?   Response: The purpose of this study was to evaluate the use and impact of a payment code for transitional care management services which was implemented by Medicare in. The transition of patients from hospitals or skilled nursing facilities back to the community often involves a change in a patient’s health care provider and introduces risks in communication which can contribute to lapses in health care quality and safety. Transitional care management services include contacting the patient within 2 business days after discharge and seeing the patient in the office within 7-14 days. Medicare implemented payment for transitional care management services with the hope that this would increase the delivery of these services believing that they could reduce readmissions, reduce costs and improve health outcomes. (more…)
Author Interviews, Duke, Genetic Research, Neurology, Pediatrics / 30.07.2018

MedicalResearch.com Interview with:  Paul C Marcogliese, Ph.D. Postdoctoral Associate, Laboratory of Dr. Hugo Bellen Department of Molecular and Human Genetics Baylor College of Medicine Houston, Texas 77030 Loren D. Pena, MD PhD Division of Human Genetics Cincinnati Children's Hospital Medical Center Department of Pediatrics University of Cincinnati Cincinnati, OH 45229 MedicalResearch.com: What is the background for this study? What are the main findings? Response: The Undiagnosed Diseases Network (UDN) is a multi-site collaboration across the US that seeks to help diagnose patients with rare disorders that are ill-defined. Dr. Loren D.M. Pena and Dr. Vandana Shashi at the Duke-Columbia clinical site of the UDN had seen a patient with a severe neurological disorder. While the patient had no symptoms at birth, the patient began falling at about 3 years of age, eventually losing motor coordination and developing seizures. In the interim, the regression has progressed to a severely debilitating state. Re-analysis of the participant’s exome data by our site bioinformatician at Columbia (Nicholas Stong) in Dr. David Goldstein’s laboratory revealed a truncating variant in the single exon gene IRF2BPL that could be the candidate disease-causing gene. The UDN clinicians at Duke then contacted the UDN Model Organism Screening Center (MOSC) led by Dr. Hugo Bellen at Baylor College of Medicine and the Howard Hughes Medical Institute for functional analysis. In parallel, four more patients were found with truncating mutations causing a similar disorder though the UDN and GeneMatcher.org. Additionally, two patients with missense variants in IRF2BPL were identified that displayed seizures and some developmental delay or autism spectrum disorder but no motor regression. Work in MOSC by Dr. Paul Marcogliese using fruit flies revealed that the IRF2BPL truncating variants are severe loss of function mutations and one of the missense variants was a partial loss of function. Additionally, it was found that the fruit fly IRF2BPL gene, called pits, is expressed in the neurons of the adult fly brain. Lowering the levels of pits by about 50% in fly neurons leads to progressive behavioural abnormalities and neurodegeneration. By combining the human genetics, bioinformatics and model organism data, IRF2BPL was found to be a novel disease-causing gene in humans. (more…)
Author Interviews, Brigham & Women's - Harvard, Gender Differences, Occupational Health, Sexual Health / 30.07.2018

MedicalResearch.com Interview with: Brittany M. Charlton, ScD, Assistant Professor Harvard Medical School Harvard T.H. Chan School of Public Health Boston Children's Hospital Boston, MA MedicalResearch.com: What is the background for this study? Response: Research has shown that nearly half of all sexual minorities (e.g., lesbian, gay, and bisexual individuals) experience employment discrimination in their lifetime, which may lead to many other disparities, including health insurance coverage, healthcare access, and ultimately health-related quality of life (e.g., pain, anxiety). (more…)
Author Interviews, Cannabis, McGill, Pulmonary Disease / 30.07.2018

MedicalResearch.com Interview with: Sara Abdallah, PhD Student, first author and Dennis Jensen, PhD Associate Professor, Department of Kinesiology and Physical Education Associate Dean – Infrastructure, Faculty of Education Director, McGill Research Center for Physical Activity and Health Canada Research Chair in Clinical Exercise & Respiratory Physiology Associate Member, Translational Research in Respiratory Diseases Program Research Institute of the McGill University Health Center MedicalResearch.com: What is the background for this study? What are the main findings?  Response: Many patients with chronic obstructive pulmonary disease (COPD) suffer from severe breathlessness at rest and on minimal exertion despite receiving optimal drug therapy for their underlying disease (e.g., bronchodilators). In these patients, breathlessness significantly diminishes exercise capacity and quality of life. Thus, research focused on identifying adjunct therapies for management of breathlessness in patients with advanced COPD is clinically relevant. A series of studies conducted in the 1970’s found that smoked cannabis caused bronchodilation (i.e., improved airway function) in healthy individuals and in patients with asthma. More recently, it has been demonstrated that delta-9 (∆9)-tetrahydrocannabinol (THC, the major cannabinoid constituent of cannabis) inhibits cholinergic contractions in isolated human bronchi and that a positive association exists between measure of lung function (e.g., forced expiratory volume in 1-sec) and cannabis use in patients with COPD. These studies lead us to hypothesize that inhalation of vaporized cannabis may alleviate exertional breathlessness and improve exercise tolerance in patients with advanced COPD by improving airway function at rest and during exercise. (more…)
Author Interviews, Biomarkers, NYU, Pediatrics, Pulmonary Disease / 29.07.2018

MedicalResearch.com Interview with: Dr. Mikhail Kazachkov MD Director of Pediatric Pulmonology Hassenfeld Children’s Hospital NYU Langone Medical Center  MedicalResearch.com: What is the background for this study? How common is the problem of chronic cough in children?  Is it more common in children with allergies, asthma or reflux? Response: Chronic cough is one of the leading causes of pediatric referrals to subspecialty physicians.  Its prevalence in the general pediatric population may approach 3% (Galassi et al, Epidemiol. Prev. 2005;29,Suppl.:9–13). It is important to recognize that the main causes of chronic cough in children are completely different for those in adults.  Specifically, gastroesophageal reflux and postnasal drip are not considered to be important causes of cough in children.  Cough variant asthma, although is a common cause of cough in adults, does not seem to be frequently diagnosed and a cause of chronic cough in children. The main cause of chronic wet cough in children is protracted bacterial bronchitis (Chang et al, Chest. 2017 Apr;151:884-890).  It is important to recognize that neurologically impaired children have completely different pathogenesis of chronic cough, which is mostly related to aspiration into the lower airway and development of aspiration-related lung disease. (more…)
Author Interviews, Genetic Research, Osteoporosis, PLoS, Stanford / 29.07.2018

MedicalResearch.com Interview with: Stuart Kim PhD Professor of Developmental Biology, Emeritus Bio-X Affiliated Faculty James H. Clark Center Stanford University  MedicalResearch.com: What is the background for this study? What are the main findings? Response: Osteoporosis is caused by a reduction in bone mass, and leads to a high incidence of bone fracture because the weakened bone is less able to withstand the stress of slips and falls. Osteoporosis affects millions of elderly, is responsible for as many as 50% of fractures in women and 25% of fractures in men over the age of 50, and accounts for $19 billion in annual health care costs in the US. Identification of people with an increased genetic risk for osteoporosis could reduce the incidence of bone fracture. Low BMD is also a risk factor for stress fractures. For athletes and military personnel undergoing harsh rigors of training, stress fractures are common injuries that limit playing time, military effectiveness and competitive success. Using data from UK Biobank, a genome-wide association study identified 1,362 independent SNPs that clustered into 899 loci of which 613 are new. These data were used to train a genetic algorithm using 22,886 SNPs as well as height, age, weight and sex as predictors. Individuals with low genetic scores (about 2% of those tested) showed a 17-fold increase in risk for osteoporosis and about a 2-fold increase in risk of fractures. (more…)
Author Interviews, Cocaine, Gastrointestinal Disease, PLoS, Surgical Research, Vanderbilt, Weight Research / 27.07.2018

MedicalResearch.com Interview with: Aurelio Galli, Ph.D. Professor of Molecular Physiology & Biophysics and Psychiatry & Behavioral Science Associate Director for Research Strategy Vanderbilt Brain Institute MedicalResearch.com: What is the background for this study? What are the main findings? Response: The study builds on evidence that bile acids influence the brain’s reward system. Bile acids are normally released from the gall bladder into the upper part of the small intestine, where they emulsify fats for absorption, before being recycled further down the small intestine. In bile diversion surgery, an experimental treatment for weight loss, bile is released at the end of the small intestine, increasing the amount of bile acids that enter the general circulation. Mice treated with this surgery have less appetite for high-fat foods, which suggests that bile acids affect brain reward pathways. We demonstrated that mice receiving the surgery also showed less preference for the cocaine-associated chamber, indicating that cocaine was probably less rewarding. (more…)
Author Interviews, Eli Lilly, Lancet, Pharmacology, Rheumatology, UCLA / 26.07.2018

MedicalResearch.com Interview with: Daniel J. Wallace M.D., FACP, MACR Associate Director, Rheumatology Fellowship Program Board of Governors, Cedars-Sinai Medical Center Professor of Medicine, Cedars-Sinai Medical Center David Geffen School of Medicine Center at UCLA In affiliation with Attune Health Beverly Hills, Ca 90211 MedicalResearch.com: What is the background for this study? What are the main findings?   Response: This is the first positive study of systemic lupus erythematosus (SLE) using baricitinib,  a small oral molecule that blocks the JAK system. The human kinome consists of 500 genes and helps regulate cell surface receptor interaction. While agents that inhibit certain pathways are approved for rheumatoid arthritis and certain malignancies, this is the first study of its kind in SLE. (more…)
Author Interviews, Duke, JAMA, Schizophrenia / 26.07.2018

MedicalResearch.com Interview with: Richard Keefe PhD Professor in Psychiatry and Behavioral Sciences Duke Institute for Brains Sciences MedicalResearch.com: What is the background for this study? What are the main findings? Response: A lot of studies have shown that cognitive deficits are present in young people at risk for psychosis. There have been calls for investigations of the idea that cognition declines over time in the young people who are at highest risk, but longitudinal studies are hard to conduct so not much work has been done to address this question. The main finding from our study is that the cognitive architecture – the way the various aspects of cognitive functioning appear to be organized in each individual’s brain based upon their pattern of performance – changes over time in those young people who are in the midst of developing psychosis. Interestingly, cognitive architecture also becomes more disorganized in those whose high-risk symptoms do not remit over a two year period, and is related to the functional difficulties they may be having. The young people whose high risk symptoms were present at the beginning of the study but remitted later actually improved cognitively over the two year period of the study. (more…)
Author Interviews, Critical Care - Intensive Care - ICUs, Infections, JAMA, Pediatrics, University of Pittsburgh / 25.07.2018

MedicalResearch.com Interview with: Idris V.R. Evans, M.D.,MA Assistant Professor Department of Critical Care Medicine University of Pittsburgh MedicalResearch.com: What is the background for this study? What are the main findings? Response: New York State issued a state-wide mandate in 2013 for all hospitals to develop protocols for sepsis recognition and treatment. This mandate was called “Rory’s Regulations” in honor of Rory Staunton, a boy who died from sepsis in 2012. Pediatric protocols involved a bundle of care that included blood cultures, antibiotics, and an intravenous fluid bolus within 1–hour. We analyzed data collected by the NYS Department of Health on 1,179 patients from 54 hospitals and found that the completion of the pediatric bundle within 1 hour was associated with a 40% decrease in the odds of mortality.  (more…)
Author Interviews, Brigham & Women's - Harvard, Genetic Research, Microbiome / 24.07.2018

MedicalResearch.com Interview with: A. Sloan Devlin, PhD Assistant Professor Department of Biological Chemistry and Molecular Pharmacology Harvard Medical School MedicalResearch.com: What is the background for this study? Response: It is known that the microbiome, the collection of bacteria that live in and on our bodies, influences the development of metabolic diseases including diabetes and obesity. The ways in which the microbiome affects host metabolism, however, are poorly understood. One reason for this lack of understanding is because the gastrointestinal tract contains hundreds of species of bacteria producing many different kinds of metabolites. Untangling the effects of these bacteria and the molecules they make is a significant challenge. In this study, we decided to concentrate on a group of metabolites found in the human gut called bile acids. When we eat a meal, these compounds are released into the gastrointestinal tract where they act as detergents that aid in digestion. Once these molecules reach the lower gastrointestinal tract, the gut bacteria residing there chemically modify these compounds, producing a pool of over 50 different bile acids total. Imbalances in this bile acid pool are thought to influence the progression of diet-induced obesity. However, it is unclear which specific bile acids are responsible for either beneficial or detrimental effects on host metabolism. We set out to address this question by first identifying a selective type of bacterial enzyme called a bile salt hydrolase, then by genetically deleting this enzyme from a common gut bacterium and investigating how this change affected host metabolism. (more…)
Author Interviews, JAMA, Stroke, UCLA / 24.07.2018

MedicalResearch.com Interview with: Kristina Shkirkova Doctoral Student in Neuroscience Zilkha Neurogenetic Institute University of Southern California Los Angeles, CA MedicalResearch.com: What is the background for this study? Response: Stroke is the second leading cause of death and a leading cause of adult disability worldwide. Stroke onset is sudden with symptoms progressing rapidly in the first hours after onset. The course of symptom progression after stroke is not well studied in the ultra-early window before hospital arrival and during early postarrival period. There is an urgent need to characterize the frequency, predictors, and outcomes of neurologic deterioration among stroke patients in the earliest time window. (more…)