Author Interviews, Exercise - Fitness, JAMA, NIH / 06.04.2015

MedicalResearch.com Interview with: Hannah Arem, MHS, PhD Division of Cancer Epidemiology and Genetics National Cancer Institute, Bethesda, MarylandMedicalResearch.com Interview with: Hannah Arem, MHS, PhD Division of Cancer Epidemiology and Genetics National Cancer Institute, Bethesda, Maryland Medical Research: What is the background for this study? Dr. Arem: The 2008 Physical Activity Guidelines for Americans recommend a minimum of 150 minutes of moderate-intensity or 75 minutes of vigorous-intensity activity per week for “substantial” health benefit, and suggest “additional” benefit with more than double the exercise minimum. However, the guidelines note that there is a lack of evidence for an upper limit of health benefit. We set out to define the dose-response relationship between leisure-time physical activity and mortality and to determine the upper limit of benefit associated with higher levels of aerobic exercise. Medical Research: What are the main findings? Dr. Arem: We found that study participants who met the recommended minimum level of leisure-time physical activity derived most of the mortality benefit, with a 31% lower risk of death compared to inactive individuals. Study participants who engaged in three to five times the recommended minimum level of leisure-time physical activity had a marginally increased mortality benefit, with a 39% lower risk of death compared to inactive individuals. Three to five times the recommended minimum is equivalent to a weekly minimum of walking 7 hours or running 2 hours 15 minutes. (more…)
Author Interviews, CDC, NIH, Salt-Sodium / 16.03.2015

Jaspreet Ahuja, Nutritionist USDA, Agricultural Research Service Nutrient Data Laboratory Beltsville, MD 20705MedicalResearch.com Interview with: Jaspreet Ahuja, Nutritionist USDA, Agricultural Research Service Nutrient Data Laboratory Beltsville, MD 20705 MedicalResearch: What is the background for this study? What are the main findings? Response: Most sodium in the U.S. diet comes from commercially processed and restaurant foods. Sodium reduction in these foods is key to several recent public health efforts. In this paper, we provide an overview of a program led by Nutrient Data Laboratory, USDA, in partnership with CDC and FDA to monitor sodium contents in commercially processed and restaurant foods in United States. We track about 125 highly consumed, sodium-contributing foods, termed “Sentinel Foods” annually using information from food manufacturers and periodically by nationwide sampling and laboratory analyses. In addition, we monitor over 1,100 other commercially processed and restaurant food items, termed “Priority-2 Foods,” biennially using information from food manufacturers. These foods serve as indicators for assessing changes in the sodium content of commercially processed and restaurant foods in the U.S. In addition to sodium, we are monitoring related nutrients (potassium, total dietary fiber, total and saturated fat, total sugar) because their levels may change when manufacturers and restaurants reformulate their products to reduce their sodium content. We sampled all Sentinel Foods nationwide and reviewed all Priority-2 Foods in 2010–2013 to determine baseline sodium concentrations. The results of sodium reduction efforts, based on re-sampling of the Sentinel Foods or re-review of P2Fs, will become available in 2015 on our website. The updated data are also released in USDA food composition databases, National Nutrient Database for Standard Reference and Food and Nutrient Database for Dietary Studies. (more…)
Author Interviews, Breast Cancer, NIH / 08.03.2015

Dr. Clarice R. Weinberg Ph.D Biostatistics and Computational Biology Branch National Institute of Environmental Health Sciences Research Triangle Park, NC 27709Medicalresearch.com Interview with: Dr. Clarice R. Weinberg Ph.D Biostatistics and Computational Biology Branch National Institute of Environmental Health Sciences Research Triangle Park, NC 27709 MedicalResearch: What is the background for this study? Dr. Weinberg: Hormone therapy (HT) was commonly prescribed in the U.S. late in the 20th century to help women through the challenges of menopause. Several decades ago, therapy with estrogen alone was shown to cause endometrial cancer, and the combined use of both estrogen and progesterone replaced treatment with estrogen alone. But research published around 2002 had far reaching effects on gynecologic practice. Both the randomized trial component of the US Women’s Health Initiative and the observational European Million Women’s Study reported that postmenopausal women who were older than 50 and were taking the combination HT had an increased risk of breast cancer. Physicians and patients responded quickly, and Hormone therapy use plummeted. However, it remained unclear whether there were risks of Hormone therapy use in women under age 50. Some factors, for example obesity, have opposite effects on the risk of breast cancer in pre- and post-menopausal women, so one cannot assume risk findings from older women necessarily apply to younger women. We carried out a sibling-based study of 1,419 women with breast cancer diagnosed under the age of 50 (http://sisterstudy.niehs.nih.gov/English/2sis.htm). Each case had a sister (also studied) who had never been diagnosed with breast cancer, who could serve as her control. The study was funded by Susan G. Komen for the Cure, and the National Institutes of Health. (more…)
Author Interviews, Hepatitis - Liver Disease, HIV, JAMA, NIH / 28.02.2015

Shyamasundaran Kottilil MBBS, PhD University of MarylandMedicalResearch.com Interview with: Shyamasundaran Kottilil MBBS, PhD Division of Infectious Diseases, Institute of Human Virology, University of Maryland, Baltimore Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland Medical Research: What is the background for this study? What are the main findings? Dr. Kottilil:  Due to shared routes of transmission, almost half of all HIV-infected patients also have HCV infection. Traditionally, interferon based therapies have resulted in lower cure rates of HCV in HIV-infected subjects. Treatment for HCV is rapidly changing from an injection (interferon) based therapy to oral well tolerated pill based therapy for a shorter duration.Our intention was to test whether a treatment regimen without the use of interferon and ribavirin can be effective in HIV/HCV infected patients. Our study demonstrated that HIV/HCV connected patients without cirrhosis can be effectively treated with ledipasvir and sofosbuvir in 12 weeks. Overall 98% of patients were cured. (more…)
Author Interviews, BMJ, NIH, Pediatrics, Weight Research / 21.02.2015

Yeyi Zhu, PhD IRTA Postdoctoral Fellow Epidemiology Branch Division of Intramural Population Health Research Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIHMedicalResearch.com Interview with: Yeyi Zhu, PhD IRTA Postdoctoral Fellow Epidemiology Branch Division of Intramural Population Health Research Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH MedicalResearch: What is the background for this study? What are the main findings? Dr. Zhu: Currently in the US, nearly two thirds of reproductive-aged women are overweight or obese. Moreover, the amount of weight gained during pregnancy can have immediate and long-lasting impacts on health of a woman and her infant. Previous evidence implicates that excessive gestational weight gain above the Institute of Medicine guidelines is related to high birthweight (>4000 g), a marker of intrauterine over-nutrition which may impose a greater risk of offspring’s obesity and metabolic diseases in later life. Given that more than one third of children and adolescents are overweight or obese in the US, it is of great public health significance to improve our understanding of determinants and mediators of childhood obesity. The length of breast feeding and age at introduction of solid foods are infant feeding practices that are potentially modifiable in early life. We therefore examined whether birthweight and infant feeding practices, specifically length of breast feeding, mediate the relationship between maternal gestational weight gain and childhood growth in the National Children’s Study Formative Research in Anthropometry, a cross-sectional multi-ethnic study of 1387 mothers and their children aged 0-5.9 years in the US (2011-2012). We illustrated that the intergenerational relationship between maternal gestational weight gain and early childhood growth (i.e., z scores for weight-for-age, weight-for-height, and body mass index-for-age) largely acts through birthweight rather than directly on childhood growth. Further, given the negative association of breastfeeding duration with childhood anthropometrics, longer length of breastfeeding suppressed the positive associations of gestational weight gain and birthweight with childhood growth. In addition, analysis by ethnicity revealed that these associations were only significant in non-Hispanic White and non-Hispanic Black participants as opposed to Hispanics and other ethnicities. (more…)
AHRQ, Author Interviews, Education, NIH, Race/Ethnic Diversity / 13.02.2015

MedicalResearch.com Interview with: Robert M. Kaplan Office of Behavioral and Social Sciences Research National Institutes of Health Bethesda, MD 20892 Medical Research: What is the background for this study? What are the main findings? Response: Years of formal education is one of the strongest correlates of life expectancy. The purpose of this study was to examine the relationship between educational attainment and life expectancy with adjustments for other social, behavioral, and biological factors. Using data from a large cohort of nearly 30,000 adults, we found that education was a very strong predictor of survival and that biological and behavioral factors only partially explained the relationship. (more…)
Annals Internal Medicine, Author Interviews, Lung Cancer, NIH, Radiology / 13.02.2015

MedicalResearch.com Interview with: Paul F. Pinsky, PhD MPH Acting Chief Early Detection Research Group National Cancer Institute Bethesda, MD, 20892 Medical Research: What is the background for this study? What are the main findings? Response: The National Lung Screening Trial (NLST) reported, in 2011, a 20% reduction in lung cancer mortality with low-dose CT screening. However, there was a high false positive rate, around 25% in the first two screening rounds, and somewhat lower in the final round. In order to reduce the high false positive rate, and also to standardize the reported system for low-dose CT screening, analogous to the use of BIRADS for mammography screening, the American College of Radiology (ACR) developed the Lung-RADS classification system. It was released in May, 2014. Although it was developed based on published summary data from several studies, including the NLST, it was never applied to a large group of screened subjects on an individual basis. Therefore, we retrospectively applied Lung-RADS to previously collected, detailed screening data from the National Lung Screening Trial . The major findings were that the false positive rate decreased very substantially using Lung-RADS instead of the original National Lung Screening Trial criteria. At the baseline screen, it decreased by 50% and at subsequent screens it decreased by 75%. There was also, however, a modest decrease in the sensitivity rate, from 93% to 85% at baseline and from 93% to 79% at subsequent screens. (more…)
Asthma, Author Interviews, NIH, OBGYNE / 07.02.2015

Pauline Mendola, PhD, Investigator Epidemiology Branch Division of Intramural Population Health Research Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH Rockville, MD 20852MedicalResearch.com Interview with: Pauline Mendola, PhD, Investigator Epidemiology Branch Division of Intramural Population Health Research Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH Rockville, MD 20852 Medical Research: What is the background for this study? What are the main findings? Dr. Mendola: Asthma is the most common chronic disease in pregnancy and both asthma and maternal race/ethnicity are associated with adverse pregnancy outcomes. Since the prevalence of asthma also varies by race/ethnicity, we wanted to assess whether asthma was an important contributor to racial/ethnic disparities in pregnancy outcomes. We examined the joint impact of maternal race/ethnicity and asthma status on the risk of obstetric and neonatal outcomes. In general, maternal asthma did not impact the risk of obstetric and neonatal complications within racial/ethnic groups. However, compared to mothers of the same race/ethnicity without asthma, White and Hispanic asthmatic mothers were more likely to have infants born small-for gestational age or admitted to the NICU. White women with asthma were also at increased risk of preeclampsia and maternal hemorrhage and Hispanic mothers with asthma were more likely to have infants with apnea. Despite their increased risk of maternal asthma and neonatal and obstetric complications, maternal asthma did not impact the risk of complications among Black women or their infants. (more…)
Author Interviews, Coffee, JNCI, Melanoma, NIH, Yale / 21.01.2015

MedicalResearch.com Interview with: Erikka Loftfield Doctoral student at the Yale School of Public Health Fellow at the National Cancer Institute Medical Research: What is the background for this study? What are the main findings? Response: Previous studies have reported conflicting results on the association between coffee drinking and melanoma. We sought to clarify this relationship using data from the large NIH-AARP Diet and Health Study. We followed over 400,000 retirees aged 50 to 71 years at study entry for an average of 10 years. Participants were asked to report typical coffee intake. During the course of follow-up nearly 3,000 cases of malignant melanoma occurred. In our study, we observed that individuals who reported the highest total coffee intake (4 cups/day) had about 20% lower risk of malignant melanoma compared with those who did not consume coffee. (more…)
Author Interviews, Hepatitis - Liver Disease, Lancet, NIH / 13.01.2015

MedicalResearch.com Interview with: Anita Kohli MD Critical Care Medicine Department NIH Clinical Center, National Institutes of Health, Bethesda, MD Clinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research,  National Laboratory for Cancer Research, Frederick, MD, Medical Research: What is the background for this study? What are the main findings? Dr. Kohli: While therapy using for 8-12 weeks of all oral directly acting antivirals (DAAs) has been shown to result in high SVR "cure" rates for hepatitis C, the optimal combination and minimum duration required for treatment of hepatitis C has not been defined. The development of the simplest, short duration regimen for hepatitis C possible with high cure rates is important given the ~180 million people infected globally. Medical Research: What should clinicians and patients take away from your report? Dr. Kohli: Combination therapy with  directly acting antivirals may allow for the further shortening of treatment duration for hepatitis C. Using the right combination of DAA's therapy for as short as six-weeks may results in high rates of SVR. (more…)
Author Interviews, Genetic Research, NEJM, NIH / 13.12.2014

Dr. Constantine A. Stratakis, M.D., D.Sc National Institutes of Health, Clinical Research Center Bethesda, MD 20892-1862MedicalResearch.com Interview with: Dr. Constantine A. Stratakis, M.D., D.Sc National Institutes of Health, Clinical Research Center Bethesda, MD 20892-1862 Medical Research: What is the background for this study? What are the main findings? Dr. Stratakis: We have been working for years on the genetics of pituitary tumors in association with other conditions. A few years ago (attached), we studied for the first time a series of pediatric giants that we sequenced for then known genes. We found a few MEN1 and AIP mutations but all mutations were present in older kids with gigantism. This left out the youngest among the giants without any genetic defect. This was the first time I realized that I was dealing with a different disease. We started looking for additional genetic defects and when we found the Xq26 microduplications in 3 kindreds. We contacted the custodians of the largest series in the world - Dr. Beckers in Liege. He screened his cases, once we gave him the coordinates, and boom - it was there... The most significant thing here is that this is a new disease really: the early pediatric gigantism is almost exclusively due to Xq26 microduplications unless it is part of a family with another syndrome (AIP, MEN1, Carney complex). If there is no family history and you are dealing with a toddler with gigantism, based in these data, there is a more than 80% chance of having an Xq26 defect. This is pretty amazing! In addition, assuming that GPR101 is the responsible gene (which needs to be confirmed with additional studies) this identifies a new molecular pathway of increasing growth hormone secretion, most likely due to upregulation of GHRH - all of this needs to be confirmed in further human and animal studies. The Xq26 genomic micro-arrangements (which contain the GPR101, but also 3 other genes) is the big news here... (more…)
Annals Internal Medicine, Author Interviews, Hepatitis - Liver Disease, NIH / 05.11.2014

MedicalResearch.com Interview with: Anita Kohli, MS, MD Clinician Investigator, Clinical Monitoring Research Program (CMRP) Leidos Biomedical Research, Inc. formerly SAIC-Frederick, Inc. National Institutes of Health Bethesda, MD 20892 Medical Research: What is the background for this study? What are the main findings? Dr. Kohli: We previously treated 60 patients with sofosbuvir and ribavirin for 24 weeks. Patients who relapsed after treatment were offered re-treatment with another regimen of directly acting antivirals alone. 13 patients who relapsed were treated with sofosbuvir and ledipasvir for 12 weeks. All patients achieved SVR12. This is the first report of re-treating patients who failed a regimen including sofosbuvir with another regimen incorporating this same antiviral. (more…)
Author Interviews, Depression, Gender Differences, NIH / 27.10.2014

Dr. Sunni Mumford PhD Earl Stadtman Investigator in the DESPR Epidemiology Branch Eunice Kennedy Shriver National Institute of Health and Human DevelopmentMedicalResearch.com Interview with: Dr. Sunni Mumford PhD Earl Stadtman Investigator in the DESPR Epidemiology Branch Eunice Kennedy Shriver National Institute of Health and Human Development Medical Research: What are the main findings of the study? Dr. Mumford: Depressive symptoms in healthy women who don’t have diagnosed clinical depression isn’t related to reproductive hormone levels, like estrogen, or impaired ovulation. Medical Research: What was most surprising about the results? Dr. Mumford: Earlier research indicates that changes in estrogen may be associated with depression, for instance during the menopausal transition. Our study identified significant associations between estrogen and depressive symptoms in models that didn’t account for confounding factors, but this relationship was completed eliminated when adjustments were made for common confounding factors like age, race, BMI, and also stress level in these premenopausal women. Another interesting finding was that a score describing mood-related menstrual symptoms indicated that such symptoms are highest in the premenstrual phase, but remain lower throughout the rest of women’s cycles. This tells us that altered mood symptoms are most frequent prior to menstruation. (more…)
Author Interviews, Mental Health Research, NIH / 15.09.2014

MedicalResearch.com Interview with: Dr Oliver J Robinson Ph.D. Section on Neurobiology of Fear and Anxiety, National Institute of Mental Health, NIH, Bethesda, MD, Institute of Cognitive Neuroscience University College London, London, UK Medical Research: What are the main findings of the study? Dr. Robinson: This study is looking at a symptom of anxiety disorders known as “negative affective bias”. This describes the tendency of people with anxiety disorders to focus on negative or threatening information at the expense of positive information. We completed a number of previous studies looking at so called “adaptive” anxiety in healthy individuals – this is the normal, everyday anxiety that everyone experiences; walking home in the dark, for instance (in these prior studies we used unpredictable electrical shocks to make people anxious and stressed). When we made healthy people transiently anxious in this way we showed that this was also associated with negative affective bias and driven by a specific brain circuit: the dorsal medial prefrontal (anterior cingulate) cortex—amygdala aversive amplification circuit. In this study we showed that the same circuit that was engaged by transient anxiety in our healthy sample was actually engaged ‘at baseline’ (i.e. without stress) in our patient group. This suggests that this mechanism which can be temporarily activated in healthy controls becomes permanently ‘switched on’ in our patient group. This might explain why people with anxiety disorders show persistent ‘negative affective biases’. Furthermore, the extent to which this circuit was turned on correlated with self-reported anxiety. That is to say the more anxious an individual said they were, the greater the activity in this circuit. Therefore, there seems to be more of a dimension or scale of anxiety, rather than a simple well/unwell diagnosis. (more…)
Author Interviews, Dermatology, JAMA, NIH, Transplantation / 11.09.2014

MedicalResearch.com Interview with: Rena Zuo, BA MD Candidate at Duke University School of Medicine and Edward W. Cowen, MD, MHSc Senior Clinician Head, Dermatology Consultation Service Dermatology Branch Center for Cancer Research National Cancer Institute National Institutes of Health MedicalResearch: What are the main findings of the study?
 Answer: Chronic graft-vs-host disease (cGVHD) is a debilitating multisystem disease that occurs in patients receiving allogeneic hematopoietic stem cell transplantations as treatment for hematologic disorders. Although the diverse clinical presentations of cGVHD frequently mimic other autoimmune diseases such as Sjögren syndrome and systemic sclerosis, and low-titer antibodies are commonly found in patients with cGVHD, the exact pathogenesis and role of autoimmunity in cGVHD are incompletely understood. Our study is the first to characterize and identify risk factors associated with the development of two uncommon autoimmune phenomena, specifically alopecia areata and vitiligo, in the setting of cGVHD. Laboratory markers, including 11 antibodies, transplant-related factors, and other cGVHD systemic manifestations were analyzed. Several particularly interesting results were found:
  1. Among 282 patients with cGVHD, 15 demonstrated vitiligo (14 of 282; 4.9%) and/or alopecia areata (2 of 282; 0.7%).
  2. Female donor and female donor to male recipient sex mismatch, in particular, are significantly associated with the development of vitiligo and/or alopecia areata.
  3. Positive anti-cardiolipin (ACA) IgG was also significantly associated with development of vitiligo and/or alopecia areata.
(more…)
Author Interviews, Dengue, Ebola, Genetic Research, Infections, NEJM, NIH / 24.04.2014

Sergio D. Rosenzweig, MD, PhD Director, Primary Immunodeficiency Clinic (PID-C) LHD, NIAID, NIH Head of the Infectious Diseases Susceptibility Unit at the Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases National Institutes of Health Bethesda, MD, 20892MedicalResearch.com Interview with: Sergio D. Rosenzweig, MD, PhD Director, Primary Immunodeficiency Clinic (PID-C) Head of the Infectious Diseases Susceptibility Unit at the Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases National Institutes of Health Bethesda, MD, 20892 MedicalResearch.com: What are the main findings of the study? Dr. Rosenzweig: We diagnosed a disease called CDG-IIb in two siblings with severe development issues and very low levels of immunoglobulins, which include infection-fighting antibodies. These children were referred to the NIAID Primary Immunodeficiency Clinic through the NIH Undiagnosed Diseases Program. CDG-IIb is an extremely rare congenital disorder of glycosylation (CDG), with only one other case reported. The genetic defect of the disease disrupts glycosylation, the process for attaching and trimming sugars from proteins. Almost 50% of our proteins have sugars attached, and these are called glycoproteins. They include immunoglobulins and also some viral glycoproteins that are made when cells are infected by a virus. The spread of some viruses, including HIV and influenza, depend on viral glycoproteins in order to infect additional cells and form viral protective shields. We found that this type of virus was less able to replicate, infect other cells, or create adequate protective shields in CDG-IIb patient cells because of the glycosylation defect. In comparison, adenovirus, poliovirus, and vaccinia virus, which either do not rely on glycosylation or do not form protective glycoprotein shields, replicated normally when added to both CDG-IIb and healthy cells. (more…)
Author Interviews, Cost of Health Care, Medical Imaging, NIH / 11.04.2014

Jamie Hui, MD Center for Health Services Research Virginia Mason Medical Center Seattle, WashingtonMedicalResearch.com Interview with: Jamie Hui, MD Center for Health Services Research Virginia Mason Medical Center Seattle, Washington MedicalResearch.com: What are the main findings of the study? Dr. Hui: Through a quality improvement intervention aimed at how radiologists report on findings in female pelvic ultrasound examinations, we were able to decrease the number of unnecessary recommendations for follow-up imaging of benign adnexal cysts, preventing duress for these women. (more…)
Alzheimer's - Dementia, Author Interviews, Genetic Research, NIH / 10.04.2014

Prof. Dr. med. Piotr Lewczuk Head,Lab for Clinical Neurochemistry and Neurochemical Dementia Diagnostics, Universitätsklinikum Erlangen, Department of Psychiatry and Psychotherapy, 91054 Erlangen, GermanyMedicalResearch.com Interview with: Prof. Dr. med. Piotr Lewczuk Head,Lab for Clinical Neurochemistry and Neurochemical Dementia Diagnostics, Universitätsklinikum Erlangen, Department of Psychiatry and Psychotherapy, 91054 Erlangen, Germany MedicalResearch.com: What are the main findings of the study? Prof. Dr. med. Piotr Lewczuk: In our study, we investigated the concentrations of four isoforms of amyloid beta peptides in the blood of healthy young volunteers without memory complains. The participants were stratified into three groups according to their apolipoprotein E (APOE) genotype, which is the mostly investigated and generally accepted genetic risk factor for sporadic Alzheimer’s Disease (AD). It is known that the alterations of the amyloid beta metabolism are the earliest changes in the course of AD, occurring many years (or even decades) before the onset of the clinical symptoms, but it is actually not known how early these alterations start. Correspondingly, we wanted to investigate if healthy persons with genetic risk factor show changes in their amyloid beta metabolism already 30-40 years before the age when AD is usually diagnosed. We did not find any differences between the groups with and without APOE-driven risk, which might be carefully interpreted as no signs of Alzheimer’s Disease pathology in persons at risk at such an early life stage. Taken together, we think that the Alzheimer’s Disease pathology starts some 10-20 years before the beginning of the clinical symptoms, but not earlier. (more…)
Author Interviews, Cognitive Issues, Medical Imaging, NIH / 07.04.2014

MedicalResearch.com Interview with: dr_Aalex_d_leowAlex Leow, MD PhD Psychiatric Institute Chicago, IL 60612 and   Tony J. Simon, PhD University of California, Davis MIND Institute Sacramento, CA 95817Tony J. Simon, PhD University of California, Davis MIND Institute Sacramento, CA 95817 MedicalResearch.com: What are the main findings of the study? Answer: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disabilities and the most prevalent known single-gene cause of autism in males. The fragile X mental retardation 1 gene (FMR1) can be mutated with expanded numbers of CGG trinucleotide repeats in the 5’ untranslated region on the Xq27.3 site of the X chromosome. Normally, unaffected individuals have fewer than 45 CGG repeats in FMR1. When the size of the CGG repeat exceeds 200 FMR1 is silenced and the mutation is categorized as full, generating the FXS phenotype. If the expansion is between 55–200 repeats, then the individual is generally classified as a fragile X premutation carrier (fXPC). An estimated 40% of male and 8-16% of female premutation carriers later develop Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS), which is a late-onset (usually 50-70 years old) neurodegenerative disorder. We recruited 46 neurologically symptomless young to middle aged carriers of the FMR1 gene mutation. They were age and gender matched with 42 unaffected control individuals without the gene mutation. Both groups were evaluated by cognitive testing as well as novel neuroimaging techniques termed “brain connectomics,” based on diffusion tensor imaging (DTI) whole-brain tractography.  A connectome is a comprehensive map, like a wiring diagram, of neural connections in the brain. Our study is the first-ever connectome study to compare fXPCs and controls. In short, brain connectomics enable scientists for the first time to study the global organizational properties of the human brain by applying cutting edge computational techniques, based on graph theory, to these comprehensive maps of neural connections (i.e., the brain graphs). Our main finding was that, in neurologically symptomless male carriers  we detected a correlation between brain graphs’ efficiency in processing information and the number of CGG repeats in the mutated region of FMR1 (we estimated that each additional CGG repeat that in these males represents an effective increase of ~1.5 years  of “brain aging”). The correlation may prove to be an effective marker of early brain aging in otherwise neurologically symptomless premutation carriers. The study also further confirmed previous findings of smaller brain stem volumes in male fXPCS than in male controls. (more…)
AHA Journals, Author Interviews, Blood Pressure - Hypertension, NIH, Nutrition, Salt-Sodium / 03.04.2014

MedicalResearch.com Interview with: Niels Graudal, MD, DrMSc Senior Consultant Department of Internal medicine/Infectious Medicine/Rheumatology IR4242 Copenhagen University Hospital, Rigshospitalet Denmark Dr. Graudal: There are no studies, which show what happens with the risk of cardiovascular death or mortality if you change your sodium intake. Our study shows the association of sodium intake as it is with cardiovascular disease and mortality, which is only the second best way to consider the problem, but as the best way does not exist we have accepted this approach. There have been two different assumptions concerning the risks of sodium intake. One is that there is an increasing risk of heart disease, stroke and death of salt intake above 2300 mg, and one is that salt is not dangerous at all. Our study shows that both positions partially may be true, as a salt intake above 4900 mg is associated with increased risk of cardiovascular disease and mortality, whereas the present normal salt intake of most of the world’s populations between 2300 mg and 4900 mg is not associated with any increased risks. In addition our study shows that a low sodium intake below 2300 mg is also associated with increased risk of cardiovascular disease and death. (more…)
Mediterranean Diet, NIH, Nutrition, Weight Research / 02.04.2014

Dr. Milan K Piya NIHR Clinical Lecturer in Diabetes and Endocrinology Warwick Medical School, University of Warwick; University Hospitals Coventry and Warwickshire NHS Trust Coventry, UKMedicalResearch.com Interview with: Dr. Milan K Piya NIHR Clinical Lecturer in Diabetes and Endocrinology Warwick Medical School, University of Warwick; University Hospitals Coventry and Warwickshire NHS Trust Coventry, UK MedicalResearch.com: What are the main findings of the study? Answer: Our studies have identified two main findings: Firstly that the size or frequency of the meal doesn’t affect the calories we burn in a day, but what matters most for losing weight is counting calories. Secondly, by carrying more weight, more endotoxin enters the circulation to cause inflammation and eating more often will exacerbate this risk which has been linked to metabolic diseases such as type-2 diabetes. (more…)
Alzheimer's - Dementia, Author Interviews, Diabetes, Mental Health Research, NIH, University of Pittsburgh / 01.04.2014

Rosebud O Roberts, M.B., Ch.B. Professor of Epidemiology Professor of Neurology Mayo ClinicMedicalResearch.com Interview with: Rosebud O Roberts, M.B., Ch.B. Professor of Epidemiology Professor of Neurology Mayo Clinic MedicalResearch.com: What are the main findings of the study? Dr. Roberts: We found that among persons 70 years and older, people with type 2 diabetes had a reduced glucose uptake (hypometabolism) in  brain cells.  We also found a similar association for people without type 2 diabetes but who had elevated hemoglobin A1c levels levels at the time of enrollment (HBA1c is a measure of glucose control, and represents the average blood glucose levels over a 3 month period). However, we did not find an association of diabetes with increased brain amyloid accumulation.  Our findings were based on an investigation of the association of type 2 diabetes with markers of brain pathology: brain hypometabolism was assessed by 18F-fluorodeoxyglucose positron emission tomography [PET] and amyloid accumulation was assessed by 11-C Pittsburgh Compound B PET imaging. (more…)
Author Interviews, Infections, NIH, Rheumatology / 31.03.2014

MedicalResearch.com Interview with: Eleftherios Mylonakis, M.D., Ph.D., FIDSA Dean's Professor of Medical Science Chief, Infectious Diseases Division Alpert Medical School and Brown University and Dr. Irene Kourbeti MD Research Associate Infectious Disease Division Rhode Island Hospital, Providence, RI MedicalResearch.com: What are the main findings of the study? Answer : There was high quality of evidence that biologic agents are associated with increased risk of all opportunistic infections, but there was no difference in mortality attributed to the opportunistic infections. Patients receiving biologics were twice more likely to develop opportunistic infections (OIs) compared to controls (OR 1.79; 95% CI, 1.17-2.74) with a number needed to harm (NNH) of 582 patients. That means that 1 opportunistic infection  would occur in every 582 patients receiving biologics. The opportunistic infections usually occurred at the commencement of the use of the biological agent and they were not statistically more in patients with a previous exposure to anti-TNF agents as compared to the patients that had never received an anti-TNF agent.. (more…)
Author Interviews, Diabetes, Diabetes Care, NIH / 28.03.2014

Michael Laxy Helmholtz Zentrum München German Research Center for Environmental Health Institute of Health Economics and Health Care Management Neuherberg, GermanyMedicalResearch.com Interview with: Michael Laxy Helmholtz Zentrum München German Research Center for Environmental Health Institute of Health Economics and Health Care Management Neuherberg, Germany MedicalResearch.com: What are the main findings of the study? Answer: In patients with type 2 diabetes a high level of self-management behavior was associated with a better glycemic control, i.e. a lower HbA1c level, in the cross-sectional perspective and a reduced mortality over a 12-year period. This effect remained robust after controlling for socio-demographic and disease related factors, including medication. (more…)
Author Interviews, NIH, Nutrition, Sugar / 27.03.2014

Laureen Smith, PhD Associate Professor College of Nursing, The Ohio State University Columbus, OH 43210MedicalResearch.com Interview with: Laureen Smith, PhD Associate Professor College of Nursing, The Ohio State University Columbus, OH 43210 MedicalResearch.com: What are the main findings of the study? Dr. Smith: Daily sugar-sweetened beverage decreased significantly by about 1 serving per day. Also weekly consumption decreased from an average of over 4 days per week to about 2 ½ days per week. Generally, the teens were drinking the beverages fewer days per week and less servings on the days they did consume them. These changes were maintained on their own for a month after the intervention ended. Water consumption increased nearly 20 percent immediately post intervention and continued to increase at 30 days post-intervention. (more…)
Author Interviews, Breast Cancer, Cancer, NIH / 26.03.2014

Yun Gong, M.D. Associate Professor Department of Pathology, Unit 53 M D Anderson Cancer Center Houston, TX 77030MedicalResearch.com Interview with: Yun Gong, M.D. Associate Professor Department of Pathology, Unit 53 M D Anderson Cancer Center Houston, TX 77030 MedicalResearch.com: What are the main findings of the study? Dr. Gong:  Androgen receptor (AR) was positive in 39% of the inflammatory breast cancer (IBC) tumors, approximately one-third of estrogen receptor (ER)-negative and progesterone receptor (PR)-negative tumors and 42.6% triple-negative tumors. AR positivity was significantly associated with lymphovascular invasion but not with other clinicopathologic parameters. There was a trend toward association between AR expression and PR expression. Univariate survival analysis indicated that patients with AR-negative/ER-negative tumors had significantly worse overall survival and disease-specific survival than the patients with tumors showing other combinations of AR/ER status (i.e., AR-negative/ER-positive, AR-positive/ER-negative,  or AR-positive/ER-positive). Notably, the study was performed using post-neoadjuvant IBC surgical specimens. (more…)
Author Interviews, Mental Health Research, Neurology, NIH / 22.03.2014

Hannes Devos, PhD Assistant Professor Assistant Director Georgia Regents University Driving Simulator Lab Department of Physical Therapy College of Allied Health Sciences Georgia Regents University Augusta, GA 30912MedicalResearch.com Interview with: Hannes Devos, PhD Assistant Professor Assistant Director Georgia Regents University Driving Simulator Lab Department of Physical Therapy College of Allied Health Sciences Georgia Regents University Augusta, GA 30912 MedicalResearch.com: What are the main findings of the study? Dr. Devos: We compared on-road driving performance between 30 active drivers with Huntington disease and 30 age- and gender- matched control drivers. We found that Huntington disease affects all levels of driving skill due to motor and cognitive deficits and leads to unsafe driving, even in the early stages of the disease. Fourteen (47%) drivers with Huntington disease failed the road test compared with none of the controls. (more…)
Author Interviews, Heart Disease, JAMA, NIH, Omega-3 Fatty Acids / 19.03.2014

MedicalResearch.com Interview with: Denise Bonds, MD, MPH National Heart, Lung, and Blood Institute (NHLBI)  MedicalResearch.com: What are the main findings of the study? Dr.Bonds: We found no cardiovascular benefit to supplementation of the diet with either omega-3 fatty acids or with the macular xanthophyll’s lutein and zeaxanthin. (more…)