Author Interviews, Neurological Disorders, NYU, Pediatrics / 09.01.2024

MedicalResearch.com Interview with: Laura Gould, MSc, MA, PT Research Scientist SUDC Registry and Research Collaborative Comprehensive Epilepsy Center Department of Neurology NYU Langone Grossman School of Medicine     MedicalResearch.com: What is the background for this study? Response: Sudden Unexplained death in childhood (SUDC) is the unexplained death of a child on or after their 1st birthday that remains unexplained after a comprehensive death investigation. About 400 SUDC occur annually between the ages of 1-18, but more than half occur in toddlers, aged 1-4 years. Since most deaths are sleep related and unwitnessed with unremarkable autopsies, mechanisms of deaths have eluded our understanding. Febrile seizures are common in young children; ~ 3% of US children 6 months to 5 years will experience one. SUDC however has been associated with a 10-fold increase in febrile seizures; our study is the first to implicate them at time of death. The SUDC Registry and Research Collaborative (www.sudcrrc.org) at NYU Langone Health has enrolled over 300 cases of unexplained child death; seven with audiovisual recordings from the child’s bedroom during their last sleep period. More than 80% of the cases enrolled in the registry were children 1-4 years at the time of death. The seven cases with videos were aged 13-27 months with normal development and no pathogenic disease-causing variants by whole exome sequencing. (more…)
Alzheimer's - Dementia, Author Interviews, Biomarkers, JAMA, MRI / 22.05.2023

MedicalResearch.com Interview with: Ruben Smith MD, PhD Associate professor at Clinical Memory Research Division of Neurology Lund University   MedicalResearch.com: What is the background for this study? Response: Since a few years it has become possible to visualize tau pathology in Alzheimer’s Disease (AD) using positron emission tomography (PET). The tau-PET radiotracer Flortaucipir (Tauvid) was recently approved by the US Food and Drug Administration as an AD diagnostic tool. Since PET imaging is costly and exposes the patient to radioactivity we wanted to study the added clinical value of tau-PET in the diagnostic work-up of patients with cognitive symptoms, before widespread implementation in clinical practice. (more…)
Author Interviews, Neurological Disorders, Parkinson's / 24.04.2023

MedicalResearch.com Interview with: Alberto J. Espay, MD, MSc, FAAN Professor of Neurology Director and Endowed Chair Gardner Family Center for Parkinson's disease and Movement Disorders University of Cincinnati Academic Health Center MedicalResearch.com: What is the background for this study? Response: This study was meant to address the gap that current oral levodopa formulations do not suffice to lessen motor fluctuations in people with Parkinson’s disease. IPX203 is a unique extended-release formulation of levodopa. (more…)
Author Interviews, Genetic Research, Infections, Neurological Disorders / 14.12.2022

MedicalResearch.com Interview with: Dr. Eli Hatchwell, MA MB BChir (Cantab) DPhil (Oxon) BA (OU) Chief Scientific Officer Population Bio UK, Inc. Begbroke Science Park Begbroke Hill Begbroke, Oxfordshire United Kingdom MedicalResearch.com: What is the background for this study? Response: Progressive Multifocal Leukoencephalopathy (PML) is a devastating condition that is associated with a number of clinical situations, including treatment with a variety of drugs. Of these, the best known is natalizumab (Tysabri), which is a very successful drug in the treatment of MS (multiple sclerosis). Only a small proportion of patients treated with natalizumab develop PML and this has always been a mystery. The study was based on a hypothesis that some individuals have an underlying susceptibility to developing PML, based on the presence of variants in genes that are important in the immune system. The study identified several of these variants. (more…)
Author Interviews, Gender Differences, Menopause, Urology / 15.03.2021

MedicalResearch.com Interview with: Lin Yang, PhD Research Scientist/Epidemiologist Department of Cancer Epidemiology and Prevention Research Cancer Care Alberta | Alberta Health Services | Canada Adjunct Assistant Professor Departments of Oncology and Community Health Sciences University of Calgary | Canada  MedicalResearch.com: What is the background for this study? Response: Urinary incontinence disproportionately affects women. Urinary incontinence results in significant physical, social, and psychological adverse consequences that impair women’s quality of life and contribute to considerable healthcare costs. At the moment, the contemporary prevalence and recent trends in urinary incontinence in US women are unknown. More importantly, there is a growing awareness that urinary incontinence is not part of normal aging, but very little information is available to inform prevention strategies. Therefore, we were also interested in exploring correlates of urinary incontinence in a population-based sample of US women. (more…)
Author Interviews, JAMA, Neurology / 24.12.2020

MedicalResearch.com Interview with: Dr. Roopa Rajan MD, DM Post Doctoral Fellowship (Movement Disorders) Assistant Professor Department of Neurology AIl India Institute of Medical Sciences New Delhi  MedicalResearch.com: What is the background for this study? Response: This study was inspired by the need for more effective treatments for patients with disabling hand tremor, particularly dystonic tremor. Dystonic tremor is a movement disorder in which both dystonia (abnormal posturing) and tremor co-exist in the same body part. In general, this common and often disabling disease responds only modestly to oral medications. Surgical treatments such as deep brain stimulation may be offered to persons with severe tremor, however the outcomes are not as robust as seen in other tremor conditions,  for instance, essential tremor. Therefore, there is a critical need for more effective treatments for people living with this disease. Botulinum toxin injections are known to be effective for dystonic tremor affecting the head and voice, although these remain off-label indications. Previous studies using botulinum toxin injections for other hand tremors like essential tremor led to limited clinical application, in part due to transient hand weakness that may be a side effect of botulinum toxin injections. Recently, advances in injection delivery such as electromyographically guided botulinum toxin injections with individualized muscle and dose selections were reported to be beneficial in essential tremor. We built upon this existing data to explore the effects of such a treatment in patients with dystonic hand tremor.   (more…)
Author Interviews, Genetic Research, Neurology / 11.08.2020

MedicalResearch.com Interview with:
BrainHQHenry Mahncke, PhD
Chief Executive Officer BrainHQ
Dr. Mahncke earned his PhD at UCSF in the lab where lifelong brain plasticity was discovered. At the request of his academic mentor, he currently leads a global team of more than 400 brain scientists engaged in designing, testing, refining, and validating the computerized brain exercises found in the BrainHQ app from Posit Science, where he serves as CEO.
MedicalResearch.com Tell us what’s important about this new study in people with Down Syndrome? Response: Often, we believe that genetic conditions are predetermined and completely inalterable, but this new study underscores that, when it comes to the brain, positive change is almost always possible – regardless of age or health condition. That’s consistent with the science of brain plasticity, and it’s a very different and hopeful way to think about the potential of people with Down Syndrome – and people, generally.   MedicalResearch.com: Can you briefly describe Down Syndrome and findings in this study? Response: Down Syndrome is one of the most common genetic abnormalities in humans, found in about 1 in 1,000 births each year, and caused by the presence of all or part of a third copy . of chromosome 21.It’s usually associated with physical growth delays and characteristic facial features. While cognitive abilities vary enormously, one study estimates the average IQ of a young adults is about 50 (comparable to average 8 or 9 year olds). In a pilot study among 12 people with Down Syndrome involving physical, cognitive and EEG measurements, researchers at Aristotle University of Thessaloniki, Greece, found a 10-week combined protocol of physical exercises and computerized brain training led to a reorganization of the brain and to improved performance on both cognitive and physical measures. The physical training consisted of aerobic, flexibility, strength, and balance exercises. The cognitive training used in the study was the Greek version of the commercially-available BrainHQ brain app, consisting of 29 visual and auditory exercises targeting memory, attention, processing speed, problem-solving, navigation, and social skills. The researchers had hypothesized that the training would trigger the brain’s neuroplasticity – its ability to change chemically, structurally and functionally. Their results showed increased connectivity within the left hemisphere and from left to right hemisphere, as well as improved performance on physical and cognitive assessments.   (more…)
Alzheimer's - Dementia, Author Interviews, Blood Pressure - Hypertension, Neurology, UCSF / 10.08.2020

MedicalResearch.com Interview with: Laure Rouch, PharmD PhD Department of Psychiatry Dr. Kristine Yaffe, MD (Senior Author) Departments of Psychiatry, Neurology, and Epidemiology University of California San Francisco, San Francisco VA Medical Center, San Francisco, CA, USA MedicalResearch.com: What is the background for this study? Response: Worldwide, around 50 million people have dementia and this number is set to triple by 2050. Prevention of dementia and identification of potentially modifiable risk factors are, therefore, critically important. Postural changes in blood pressure increase with advancing age and affect 20% to 30% of older adults. Yet it has not been explored deeply how orthostatic hypotension and blood pressure postural changes variability over time are associated with dementia risk. As multiple pharmacologic and nonpharmacologic interventions may improve orthostatic symptoms, this question has major public health implications. (more…)
Author Interviews, Brain Injury, Cognitive Issues, Depression, Mental Health Research / 15.07.2020

MedicalResearch.com Interview with: Dr. Steve Erickson, MD Concussion Expert at Banner University Medicine Neuroscience Institute Dr. Erikson discusses the recent Neurology publication associating repetitive head impacts with depression. MedicalResearch.com: What is the background for this study? Response: The study compared depression and cognitive function of adults (middle aged and older) who have had repetitive head impacts (RHI) and/or TBI to adults without a history of these. (more…)
Author Interviews, Neurology, Parkinson's / 22.06.2020

MedicalResearch.com Interview with: Stewart A. Factor, D.O. Professor of Neurology Director of the Movement Disorders Program Vance Lanier Chair of Neurology Emory University School of Medicine MedicalResearch.com: What is the background for this study? Would you briefly explain what is meant by OFF episodes.  Response: Parkinson’s disease (PD) is a chronic, progressive neurodegenerative disease characterized by motor symptoms, including tremor at rest, rigidity and impaired movement, as well as significant non-motor symptoms, such as cognitive impairment, psychiatric symptoms and autonomic symptoms (i.e. urinary issues, constipation, low blood pressure). It is the second-most common neurodegenerative disease after Alzheimer’s disease and it is predicted that the prevalence of Parkinson’s disease will double by the year 2040. The symptoms of PD are in substantial part, due to loss of dopamine nerve cells in the brain. The current standard of care for PD includes replacing the dopamine loss by the use of oral carbidopa/levodopa. Levodopa is a precursor of dopamine, converted in the brain. OFF episodes have been a significant unmet need in Parkinson’s disease since the emergence of levodopa. Initially, levodopa controls PD symptoms in a continuous fashion throughout the day. With time the response becomes less predictable and patients experience a re-emergence or worsening of PD symptoms. These episodes are what we mean by OFF episodes. OFF episodes can be characterized, in part, by re-emergence of motor symptoms including tremor, stiffness or slowed movement that can happen at any point during the day. OFF episodes typically begin within the first five years of treatment and occur at the end of a dose. This is referred to as end of dose failure or wearing off. Within the first four to six years after diagnosis, regardless of disease severity, up to 60 percent of people with PD experience OFF episodes. With time these episodes become longer, more severe and disabling, more frequent and less predictable as PD progresses. They can take up more than half the day OFF episodes may alter a persons’ ability to perform everyday activities by slowing or even precluding their completion. The result is significant burden and distress for people living with Parkinson’s disease (PD) and their care partners. CTH-300 was a Phase 3, 12-week, randomized, double-blind, placebo-controlled, parallel group, study examining the efficacy, safety and tolerability of apomorphine hydrochloride sublingual film (KYNMOBI) in people with levodopa-responsive PD complicated by OFF episodes. The primary endpoint was a mean change in the score from pre-dose in the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part III Motor Examination at 30 minutes after dosing at the 12-week visit of the maintenance treatment phase. The key secondary endpoint was the percentage of people with PD with a patient-rated full ON (or best) response within 30 minutes at the 12-week visit of the maintenance treatment phase. (more…)
Author Interviews, Neurological Disorders, Personalized Medicine / 19.06.2020

MedicalResearch.com Interview with: https://polyneuron.com/Pascal Hänggi, PhD Chief Scientific Officer Polyneuron Pharmaceuticals   MedicalResearch.com: What is the background for this study? Response: Anti-MAG neuropathy is a rare form of acquired demyelinating neuropathy. The disease onset normally presents after the age of 50 years and is 2.7 times more frequent in men than in women, with a prevalence of about 1 in 100,000. It is caused by the production of monoclonal anti-MAG IgM antibodies that recognize the HNK-1 epitope. The myelin-associated glycoprotein MAG is a mediator for the formation and maintenance of the myelin sheaths. There is strong evidence that the binding and deposition of anti-MAG IgM autoantibodies on myelin sheath is responsible for the demyelination, which clinically manifests itself as a peripheral neuropathy affecting primarily sensory nerves. However, the causes and the exact mechanisms behind the expansion of anti-MAG IgM producing B-cell and plasma cell clones are not fully understood. Most off-label treatments aim to reduce pathogenic autoantibody titers by depleting  autoantibody-producing B cell clones which interfere with antibody-effector mechanisms, or physically remove autoantibodies from the circulation. Most frequently, the anti-CD20 monoclonal antibody rituximab is used to treat anti-MAG neuropathy patients. However, all of these treatment options often lack of selectivity, efficiency, or can induce severe adverse effects in some patients. Polyneuron has designed PN-1007 to highly selectively target the IgM autoantibodies that cause anti-MAG neuropathy. PN-1007 is a glycopolymer that mimics the natural HNK-1 carbohydrate epitope found on myelin of peripheral nerves and binds to the circulating disease-causing antibodies. By eliminating these pathogenic antibodies, PN-1007 may protect the integrity of the neuronal myelin sheaths of anti-MAG neuropathy patients. (more…)
Author Interviews, JAMA, Multiple Sclerosis, Neurology / 15.06.2020

MedicalResearch.com Interview with: Cris S Constantinescu,  MD, PhD, FRCP Professor, Division of Clinical Neuroscience Research Group in Clinical Neurology University of Nottingham Queen's Medical Centre Nottingham UK MedicalResearch.com: What is the background for this study? Response: The study is in some way a test of the hygiene or old friends hypothesis, whereby eradication, through improved hygiene, of some parasites that have existed in the human gut for thousands of years and have suppressed inflammatory reactions, leads to an increase in inflammatory conditions. This has been used to explain the increased autoimmune and inflammatory diseases in the developed world. Healthy volunteer studies at the University of Nottingham showed therapeutic hookworm infection to be safe and well tolerated up to about 50 larvae, and then safety studies in people with airway hyperreactivity and inflammatory bowel disease raised no concern. Following a study in Argentina showing that people with MS have milder disease when they have a natural co-existing asymptomatic infection with intestinal parasites, we (Professor Pritchard, immunoparasitologist and myself) decided to test hookworm in MS, and for the first time used 25 larvae in a patient study. (more…)
Author Interviews, Biogen, Neurological Disorders, Pharmaceutical Companies / 30.04.2020

MedicalResearch.com Interview with: Toby Ferguson, M.D., Ph.D. Vice President, Head Neuromuscular Development Unit Biogen MedicalResearch.com: What is the background for this study? Would you briefly explain what is meant by SMA, who is primarily affected and incidence? Response: Spinal muscular atrophy (SMA) is a rare, genetic, neuromuscular disease characterized by a loss of motor neurons in the spinal cord and lower brain stem that can result in severe, progressive muscle atrophy and weakness. Approximately one in 10,000 live births have a diagnosis of SMA. It is a leading genetic cause of infant mortality; however, people of all ages are impacted by the disease. More than three years ago, SPINRAZA (nusinersen) became the first FDA-approved treatment option for SMA. The DEVOTE study, which recently treated its first patient, is designed to evaluate the safety and potential for even greater efficacy of SPINRAZA when administered at a higher dose than currently approved for the treatment of SMA. The Phase 2/3 randomized, controlled, dose-escalating study will be conducted at approximately 50 sites around the world and aims to enroll individuals of all ages with SMA. (more…)
Author Interviews, Dermatology, Neurology / 28.04.2020

MedicalResearch.com Interview with: Santosh K. Mishra M.Tech., PhD Assistant Professor of Neuroscience Department of Molecular Biomedical Sciences NC State Veterinary Medicine Raleigh, NC 2760 MedicalResearch.com: What is the background for this study? Would you briefly explain what is meant by atopic dermatitis? Response: Chronic allergic itch is a worldwide problem that leads to substantial health expenses,but what causes this universal urge to scratch remains elusive in chronic allergic itch. Atopic dermatitis is a common allergic skin disease that often associated with extremely itchy and inflamed skin. In our study, we showed, for the first time, a molecular pathway that is involved in chronic allergic itch as we identified an endogenous mediator (periostin) and a new role for its sensory neuron receptor, the integrin αVβ3, which drives the excitability and transmission of itch signal to the spinal cord.  (more…)
Author Interviews, Neurological Disorders, Parkinson's / 15.04.2020

MedicalResearch.com Interview with: Dr. Viviane Labrie, PhD Dr. Labrie is an associate professor in Van Andel Institute’s Center for Neurodegenerative Science, where she studies Parkinson’s, Alzheimer’s and other neurological diseases. MedicalResearch.com: What is the background for this study? Response: One of the most puzzling and persistent mysteries in neuroscience has been why some people are “right-brained” while others are “left-brained.” The two sides of the brain have different jobs. The left side is analytic and problem-solving, while the right side manages creativity and artistic talents. But despite their differences, the two sides are composed of the same cell types — essentially, brain neurons and their support cells. In this study, we sought to understand how it is possible for these cells to behave completely differently depending on what hemisphere they’re located in.  We also wanted to examine the reasons behind asymmetry in Parkinson’s disease; that is, why Parkinson’s symptoms typically start on one side of the body before the other. This asymmetry in neurodegeneration and symptoms in patients is one of the biggest unsolved puzzles in the Parkinson’s disease field — why do brain cells in one hemisphere begin dying before brain cells in the other hemisphere? (more…)
Alzheimer's - Dementia, Author Interviews, Cognitive Issues / 28.03.2020

MedicalResearch.com Interview with: Joanne Ryan, PhD Senior Research Fellow, ASPREE From the School of Public Health and Preventive Medicine Monash University Melbourne, Australia MedicalResearch.com: What is the background for this study? Response: Aspirin is a commonly used drug known to reduce inflammation, and prevent blood clotting (antiplatelet) - which is why it is commonly used in secondary prevention in individuals with established cardiovascular disease. Inflammation is thought to be a central mechanism in Alzheimer's disease, implicated in the neuropathological cascade leading to the development of dementia and other forms of dementia. Cardiovascular risk factors and stroke are both associated with cognitive decline and an increased risk of dementia. This formed the basis of the hypothesis that aspirin could be beneficial in helping to reduce cognitive decline and the occurrence of Alzheimer's Disease. (more…)
Author Interviews, Neurology, Pain Research / 12.02.2020

MedicalResearch.com Interview with: Chun Yuen Fong Post-doc research fellow Center for Cognitive and Evolutionary Science University of Tokyo  MedicalResearch.com: What is the background for this study? Response: Migraine is one of the most prevalent neurological disorders worldwide. However, what exactly trigger a migraine episode is not entirely clear despite years of research. Moreover, migraine sufferers often report having excessive sensitivity to light and certain patterns during the headache-free period. Some researchers suggested that such abnormal sensations were associated with the enhanced cortical hyperexcitability of the migraine sufferers. In our study, we aimed to build on this theory by comparing the neurophysiological activities between regular migraine sufferers and control using electroencephalography (EEG). Using the same research method, we also compared the neural activities between healthy participants who reported having more abnormal visual sensations to those with less. (more…)
Alzheimer's - Dementia, Author Interviews, Cognitive Issues, McGill, Neurology, Technology / 28.01.2020

MedicalResearch.com Interview with: Yasser Iturria-Medina PhD Assistant Professor, Department of Neurology and Neurosurgery Associate member of the Ludmer Centre for Neuroinformatics and Mental Health McConnell Brain Imaging Centre McGill University MedicalResearch.com: What is the background for this study? Response: As background, two main points:
  • Almost all molecular (gene expression) analyses performed in neurodegeneration are based on snapshots data, taking at one or a few time points covering the disease's large evolution. Because neurodegenerative diseases take decades to develop, until now we didn't have a dynamical characterization of these diseases. Our study tries to overcome such limitation, proposing a data-driven methodology to study long term dynamical changes associated to disease.
Also, we still lacked robust minimally invasive and low-cost biomarkers of individual neuropathological progression. Our method is able to offer both in-vivo and post-mortem disease staging highly predictive of neuropathological and clinical alterations. (more…)
Author Interviews, Education, Gender Differences, Neurology, UC Davis / 27.01.2020

MedicalResearch.com Interview with: Allison Brashear, M.D., M.B.A. Dean, UC Davis School of Medicine MedicalResearch.com: What is the background for this study? Why is the demand for neurology services and neurologists increasing?  Response: The American Academy of Neurology estimates that by 2025 the number of neurologists in practice will increase to 18,060 but some 3,400 more will be needed to meet the demand for their services. The 58% increase in the number of residency positions in the National Resident Matching Program since 2008 also reflects the growing demand. The higher prevalence of neurologic conditions, aging U.S. population and more patients having access to the health care coverage are the major driving forces. (Note: source of NRMP neurology trend data comes from a physician/resident forum posted May 2019 https://forums.studentdoctor.net/threads/growth-trends-in-neurology-residency-positions.1375918/) MedicalResearch.com: Why is neurology included among the less desirable fields of medicine (similar to nephrology, infectious disease, endocrinology etc.) for medical students and residents to pursue?  Why is burnout and dissatisfaction so high? Response: According to the American Academy of Neurology, a minority of medical students choose to train in neurology each year, with approximately 3.1% matching into a neurology residency in 2018. The newer generations of neurologists value lifestyle and time off work more than their predecessors. According to a recent American Medical Association survey, neurology tied with critical care as the medical specialty with the highest stress levels and burnout. Too many administrative tasks, too many hours at work, increased computerization of practice and insufficient compensation were among the top causes of burnout. (more…)
Alzheimer's - Dementia, Author Interviews, Technology / 08.01.2020

MedicalResearch.com Interview with: Dr.med.univ. Roland Beisteiner Department of Neurology Laboratory for Functional Brain Diagnostics and Therapy High Field MR Center, Medical University of Vienna Vienna, Austria MedicalResearch.com: What is the background for this study? What are the main findings? Response: The background is the development of a new brain therapy which allows to support brain regeneration by activation of neurons with pulsed ultrasound. Main findings are that Alzheimer's patients improve their memory up to 3 months. (more…)
Author Interviews, Lipids, NEJM, Neurological Disorders, Stroke / 18.11.2019

MedicalResearch.com Interview with: Pierre Amarenco, MD Professor and Chairman Paris University, Paris, France INSERM Department of Neurology and Stroke Centre Bichat Hospital Paris, France MedicalResearch.com: What is the background for this study? Response: The rationale of the Treat Stroke to target trial was that after we published the SPARCL trial in 2006 (atorvastatin 80 mg/day vs placebo in patients with stroke) which showed a 16% relative risk reduction of recurrent stroke, we performed several pre specified and post hoc analyses, showing that in SPARCL patients randomized with "atherosclerotic disease" the risk reduction for the primary endpoint was much higher (33%), and in in patients achieving a LDL cholesterol of less than 70 mg/dL as compared to those achieving a LDL cholesterol 100 mg/dL or higher, the risk reduction was 28%. Therefore to confirm this findings, we designed the TST trial, which was an investigator initiated trial funded by the french ministry of health,  and enrolled patients with an ischemic stroke due to atherosclerotic stenosis and randomized them to either a target LDL cholesterol of less than 70 mg/dL or a target LDL cholesterol of 90 to 110 mg/dL. To achieve these goals, the investigators could use any statin available on the market, and titrate the dosage of the statin to get to the assigned target. They could also use ezetimibe on top of statin therapy if a high dosage of statin was not sufficient to get to the target level assigned by randomization. (more…)
Author Interviews, Genetic Research, Pediatrics / 14.10.2019

MedicalResearch.com Interview with: Dr Nicole Van Bergen B Sc (Hon), PhD Senior Research Officer, Neurodevelopmental Genomics, Murdoch Children's Research Institute Honorary Fellow, Department of Paediatrics, The University of Melbourne Murdoch Children's Research Institute The Royal Children's Hospital Parkville, Victoria Australia  MedicalResearch.com: What is the background for this study? What are the main findings? Response: We are in an era when the price tag of genetic testing by next generation sequencing is becoming a cost-effective and rapid tool for medical diagnosis. The benefit to patients is often a more accurate and early diagnosis. Because we can do genetic analysis on blood or saliva, we don’t need to use more traditional invasive investigations such as biopsies, brain scans or other extensive imaging. We are reaching an unprecedented rate of discovery of new genes for rare disorders which will help solve the mystery for many previously undiagnosed conditions. An incredibly talented international team of researchers, led by the Murdoch Children’s Research Institute (MCRI) identified the underlying cause of a rare brain disorder in children. Together they identified that pathogenic mutations in a gene called NAXD cause severe neurological damage in children after an episode of mild fever or illness. Only six cases have been recorded worldwide and all the children died soon after suffering either a fever or illness. The research paper, ‘NAD(P)HX Dehydratase (NAXD) Deficiency: A Novel Neurodegenerative Disorder Exacerbated By Febrile Illnesses’ is published in the latest edition of the journal, Brain. MCRI lead laboratory researcher Nicole Van Bergen, said the research provides an excellent example of how new genetic testing technologies can be applied to solve the mystery of previously undiagnosed conditions. “By coupling the genetic testing information with sophisticated functional genomic approaches in the laboratory, we were able to pinpoint the exact cause of this disorder,”Dr Van Bergan said. “We used skin cells from patients, as well as other laboratory tools, to work out the gene that caused the children’s early death. (more…)
Alzheimer's - Dementia, Author Interviews, Cognitive Issues, Duke, Neurology / 24.09.2019

MedicalResearch.com Interview with: Juan Helen Zhou, PhD, on behalf of the co-authors Associate Professor and Principal Investigator Neuroscience and Behavioural Disorders (NBD) Programme Duke-NUS Medical School, SingaporeJuan Helen Zhou, PhD, on behalf of the co-authors Associate Professor and Principal Investigator Neuroscience and Behavioural Disorders (NBD) Programme Duke-NUS Medical School, Singapore  MedicalResearch.com: What is the background for this study? Response: Alzheimer’s disease and cerebrovascular disease are among the leading disorders affecting the elderly, with up to 50 per cent of dementia patients showing co-occurrence of both disorders. It is therefore of great interest to understand the influence of co-occurring Alzheimer’s disease and cerebrovascular disease pathologies on brain changes, and examine if such changes are able to track early differential disease progression. Past cross-sectional studies have suggested that Alzheimer's disease and cerebrovascular disease pathologies contribute independently to brain functional and structural changes, and cognitive decline. Our study sought to demonstrate the independent contributions of both pathologies to brain functional networks in a longitudinal cohort of mild cognitive impairment patients, often regarded as early stage of the disease. (more…)
Author Interviews, Infections, Multiple Sclerosis, Neurological Disorders / 12.07.2019

MedicalResearch.com Interview with: Prof. Dr. Patrick Küry Dept. of Neurology Heinrich-Heine-University Düsseldorf Germany MedicalResearch.com: What is the background for this study? How do these viruses in our DNA differ from others such as the herpes family of viruses? Response: The background of our current two published studies is elucidating the role of endogenous retroviruses such as the HERV-W in contributing to neurological disease initiation and progression. Our new paper in PNAS (Kremer et al., PNAS 2019) describes a novel axon damage scenario for Multiple Sclerosis (MS) in which a "toxic" protein called ENV from HERV-W instructs so called microglial cells in the human brain to attack and damage myelinated axons. Our second review article (Gruchot et al., Front Genet 2019) summarizes currently known effects on endogenous retroviruses exerted towards neural cells, that means cells other than the infiltrating immune cells. There is currently a shift of attention and research in the MS field in that resident neural cells such as oligodendrocytes, precursor cells, stem cells and microglial cells and their reactions are intensively investigated. HERVs are evolutionary acquired retroviruses (RNA viruses able to integrate into host DNA via reverse transcription from RNA to DNA) that were collected during evolution by our ancestors. Some of them remained in our genome (8% of our genome is HERV related) and in most cases appear to be non-functional, mutated or genetically silenced. A few of them, as for example HERV-W in MS or HERV-K in ALS, can apparently be activated, woken up so to say, and one of the mechanisms leading to activation might be an infection by Herpesviruses. Note that herpesviruses such as for example the Epstein Bar Virus (EBV) are long known suspected triggers of MS, however, a direct correlation could never be demonstrated. HERVs such as HERV-W might therefore constitute the missing link. (more…)
Author Interviews, Lancet, Neurology, Surgical Research / 05.07.2019

MedicalResearch.com Interview with: Dr. Natasha van Zyl, MBChB (Cape Town), FRACS FRACS Plastic and Reconstructive Surgeon Melbourne, Australia  MedicalResearch.com: What is the background for this study? What are the main findings? Response: The estimated global incidence of spinal cord injury (SCI) from all causes is 40 to 80 new cases per million population per year which means that every year between 250 000 to 500 000 people worldwide suffer SCI (1)(chap 2 p 17). In Australia the age standardised, annual incident rate of persisting traumatic SCI for Australian residents aged 15 years and above is 11.8 cases per million.(2) Just over 50% of all spinal cord injuries  in Australia occur at the cervical level resulting in tetraplegia. (2) Cervical spinal cord injury is a devastating, life-changing injury impacting almost every aspect of a person’s work, family and social life. Although compared to many other health conditions it has a relatively low incidence, it is certainly a high cost health condition, with the lifetime cost per tetraplegia incident case estimated to be AU$9.5 million.(3) For those living with tetraplegia improvement in hand function is their highest ranked goal.(4) As such, reconstruction of upper extremity function in cervical spinal cord injury is a crucial component of the surgical rehabilitation of people with mid/low cervical spinal cord injury as it has the capacity to restore critical functions such as elbow extension, wrist extension, grasp, key pinch and release. Traditionally these functions have been reconstructed using tendon transfers, which move a functioning muscle to a new insertion site to recreate the function of a paralysed muscle.(5) (more…)
ALS, Alzheimer's - Dementia, Author Interviews, Biomarkers, JAMA, Multiple Sclerosis / 27.06.2019

MedicalResearch.com Interview with: Charlotte E. Teunissen, PhD Neurochemistry Laboratory, Department of Clinical Chemistry VU University Medical Centre, Neuroscience Campus Amsterdam Amsterdam, the Netherlands MedicalResearch.com: What is the background for this study? What are the main findings? Response: Several reports have shown increased in NfL in various neurological disorders, separately. We wanted to know how the levels are in these disorders relative to each other. Moreover, some reports showed absence of age effects in Multiple Sclerosis (MS) patients, which is normally present in controls. So, we thought that it would be good to study age effects in a large group of controls, and if these effects are absent in other diseases, similarly as in MS. (more…)
Author Interviews, Epilepsy, FDA / 29.05.2019

MedicalResearch.com Interview with: Dr. Steven S. Chung, MD Executive Director and Program Chair Neuroscience Institute and Director of the Epilepsy Program Banner – University Medical Center MedicalResearch.com: What is the background for this study? How is Nayzilam different from other treatments for epilepsy? Who/How is it administered?  Response: NAYZILAM is the first medication and only FDA-approved nasal option for treating seizure clusters. NAYZILAM allows for administration by a non-healthcare professional to patients when a seizure cluster occurs, which could provide significant value to patients who currently have limited treatment options for SC. The effectiveness of NAYZILAM was established in a randomized, double-blind, placebo-controlled trial (Study 1; NCT 01390220). Study 1 was conducted in two phases: an open-label Test Dose Phase followed by a randomized, double-blind, placebo-controlled, Comparative Phase. In the Test Dose Phase, tolerability was assessed in 292 patients. Patients were excluded from participation in the Comparative Phase if they failed to meet pre-defined blood pressure, heart rate, sedation, electrocardiogram, and peripheral oxygen saturation criteria. In the Comparative Phase, 201 patients treated a single seizure cluster episode in an outpatient setting. Numerical differences in favor of NAYZILAM were observed on each of the components of the treatment success responder definition; termination of seizure(s) within 10 minutes after initial dose of study drug (80.6 versus 70.1%) and the absence of seizure recurrence between 10 minutes and 6 hours after the initial dose of study drug (58.2 versus 37.3%). Study 1 also evaluated the occurrence and time to next seizure after the initial blinded dose of study drug. A smaller proportion of NAYZILAM-treated patients experienced the next seizure within 24 hours after the initial blinded dose of study drug (37.3% versus 46.3%). NAYZILAM-treated patients experienced a statistically longer time-to-next-seizure than the placebo group.   (more…)
Author Interviews, Hospital Readmissions, JAMA, Neurology, Outcomes & Safety, University of Pennsylvania / 20.05.2019

MedicalResearch.com Interview with: Sameed Khatana, MD Fellow, Cardiovascular Medicine, Perleman School of Medicine Associate Fellow, Leonard Davis Institute of Health Economics University of Pennsylvania MedicalResearch.com: What is the background for this study? Response: There has been a growing use of quality metrics and indices in the US healthcare system. Much attention has been paid to quality measurement programs used by public payors, however, the use of such programs by commercial payors is much less studied. "Centers of excellence" are one type of quality designation program that is growing in use by commercial payors where certain hospitals are determined to be "high quality" for a certain disease state or procedure based on meeting certain criteria. For some people, this is even impacting the choice of providers and hospitals they can use by payors. We evaluated centers of excellence programs from three large commercial payors, Aetna, Cigna and Blue Cross Blue Shield, targeted at cardiovascular diseases and interventions and examined publicly reported outcomes for all hospitals performing percutaneous coronary interventions (cardiac stenting) in New York State.  (more…)