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  • July 30, 2015
  • 08:00 AM
  • 150 views

New Insights into Human De Novo Mutations

by Daniel Koboldt in Massgenomics

De novo mutations — sequence variants that are present in a child but absent from both parents — are an important source of human genetic variation. I think it’s reasonable to say that most of the 3-4 million variants in any individual’s genome arose, once upon a time, as de novo mutations in his or her ancestors. […]... Read more »

Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, Renkens I, Genome of the Netherlands Consortium, van Duijn CM, Swertz M, Wijmenga C.... (2015) Genome-wide patterns and properties of de novo mutations in humans. Nature genetics, 47(7), 822-6. PMID: 25985141  

  • July 30, 2015
  • 04:06 AM
  • 169 views

Inflammatory bowel disease and autism: increased prevalence

by Paul Whiteley in Questioning Answers

A quote to begin today's post:"Across each population with different kinds of ascertainment, there was a consistent and statistically significant increased prevalence of IBD [inflammatory bowel disease] in patients with ASD [autism spectrum disorder] than their respective controls and nationally reported rates for pediatric IBD."That was the conclusion reached in the paper published by Finale Doshi-Velez and colleagues [1] including one very notable name on the authorship list, Isaac Kohane (he of comorbidity clusters and autism research fame).Drawing on data from various sources - "rates of IBD among patients with and without ASD were measured in 4 study populations with distinct modes of ascertainment: a health care benefits company, 2 pediatric tertiary care centers, and a national ASD repository" - researchers set about establishing whether there were any differences between those with autism and those without autism in terms of IBD frequency. IBDs by the way, were characterised using ICD-9-CM codes and primarily included diagnoses of Crohn's disease and/or ulcerative colitis.Researchers reported that "the rates of IBD-related ICD-9-CM codes for patients with ASD were significantly higher than that of their respective controls" despite the actual numbers diagnosed with an IBD being quite low (23 out of a cumulative population of nearly 10,000 participants). For those 23 people on the autism spectrum however, formal diagnosis of an inflammatory bowel disease is probably a very real thing to them and their families.As mentioned in previous discussions on this blog, to talk about inflammatory bowel disease and autism can stir up some quite intense emotions and debates (see here) despite the fact that a diagnosis of autism is seemingly not protective against presenting with such issues (see here). Alongside the acceptance that more functional bowel issues such as constipation and diarrhoea are quite a frequent feature for quite a few cases of autism (see here), research attention needs to turn towards the underlying reasons why such functional bowel problems present and whether they may be reflective of something more pathological than just as a consequence of poor eating habits (see here) or any psychological / behavioural comorbidity (see here).I'd wager that there is a lot more to see in this area of research particularly in light of ideas about the gut-brain axis being something potentially important to [some] autism (see here) alongside the idea that there may be specific neurological consequences of IBDs (see here). The idea that parental experiences of IBDs may also not be associated with offspring autism risk (see here) invites some interesting research discussing the ways and means that IBD risk comes to be heightened in relation to autism...Music and have you heard that bird is the word?----------[1] Doshi-Velez F. et al. Prevalence of Inflammatory Bowel Disease Among Patients with Autism Spectrum Disorders. Inflamm Bowel Dis. 2015 Jul 25.----------Doshi-Velez F, Avillach P, Palmer N, Bousvaros A, Ge Y, Fox K, Steinberg G, Spettell C, Juster I, & Kohane I (2015). Prevalence of Inflammatory Bowel Disease Among Patients with Autism Spectrum Disorders. Inflammatory bowel diseases PMID: 26218138... Read more »

Doshi-Velez F, Avillach P, Palmer N, Bousvaros A, Ge Y, Fox K, Steinberg G, Spettell C, Juster I, & Kohane I. (2015) Prevalence of Inflammatory Bowel Disease Among Patients with Autism Spectrum Disorders. Inflammatory bowel diseases. PMID: 26218138  

  • July 29, 2015
  • 09:07 PM
  • 49 views

Single Use Sharps Recycling Many Reduce C. diff Infections

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Dr. Monika Pogorzelska-Maziarz PhD MPH Thomas Jefferson University, Jefferson School of Nursing Philadelphia, PA 19107 Medical Research: What is the background for this study? What are the main findings? Dr. Pogorzelska-Maziarz: Sharps disposal containers are ubiquitous in healthcare … Continue reading →
The post Single Use Sharps Recycling Many Reduce C. diff Infections appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Dr. Monika Pogorzelska-Maziarz PhD MPH. (2015) Single Use Sharps Recycling Many Reduce C. diff Infections. MedicalResearch.com. info:/

  • July 29, 2015
  • 08:46 PM
  • 54 views

Topical and Injected Placebos More Effective Than Pills

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Raveendhara R Bannuru MD, PhD, FAGE Director, Center for Treatment Comparison and Integrative Analysis (CTCIA) Asst Professor of Medicine, Tufts University School of Medicine Special & Scientific Staff, Center for Arthritis and Rheumatic Diseases Tufts Medical Center … Continue reading →
The post Topical and Injected Placebos More Effective Than Pills appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Raveendhara R Bannuru MD, PhD, FAGE. (2015) Topical and Injected Placebos More Effective Than Pills. MedicalResearch.com. info:/

  • July 29, 2015
  • 08:29 PM
  • 48 views

Patients With Health Insurance Receive Up To Triple Amount Of Preventive Care

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Jared Fox, PhD CDC Office of the Associate Director for Policy Medical Research: What is the background for this study? What are the main findings? Dr. Fox:  Increasing the number of people who get preventive care is … Continue reading →
The post Patients With Health Insurance Receive Up To Triple Amount Of Preventive Care appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Jared Fox, PhD. (2015) Patients With Health Insurance Receive Up To Triple Amount Of Preventive Care. MedicalResearch.com. info:/

  • July 29, 2015
  • 08:08 PM
  • 162 views

We can build it better: The first artificial ribosome

by Dr. Jekyll in Lunatic Laboratories

Researchers at the University of Illinois at Chicago and Northwestern University have engineered a tethered ribosome that works nearly as well as the authentic cellular component, or organelle, that produces all the proteins and enzymes within the cell. The engineered ribosome may enable the production of new drugs and next-generation biomaterials and lead to a better understanding of how ribosomes function.... Read more »

Orelle, C., Carlson, E., Szal, T., Florin, T., Jewett, M., & Mankin, A. (2015) Protein synthesis by ribosomes with tethered subunits. Nature. DOI: 10.1038/nature14862  

  • July 29, 2015
  • 07:48 PM
  • 148 views

Prostate cancer is 5 different diseases

by Dr. Jekyll in Lunatic Laboratories

Cancer Research UK scientists have for the first time identified that there are five distinct types of prostate cancer and found a way to distinguish between them, according to a landmark study. The findings could have important implications for how doctors treat prostate cancer in the future, by identifying tumours that are more likely to grow and spread aggressively through the body.... Read more »

  • July 29, 2015
  • 04:44 PM
  • 48 views

Walking While Texting Can Be Dangerous To Your Health

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Conrad Earnest, PhD, FACSM Texas A&M University College Station, TX Medical Research: What is the background for this study? Dr. Earnest: The study presented here is a thesis project performed by Robbyne Smith and Sammy Licence, under … Continue reading →
The post Walking While Texting Can Be Dangerous To Your Health appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Conrad Earnest, PhD, FACSM. (2015) Walking While Texting Can Be Dangerous To Your Health. MedicalResearch.com. info:/

  • July 29, 2015
  • 02:17 PM
  • 62 views

Elevated Neurotensin Level May Predict Breast Cancer in Women

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Karla M. Gonye, MBA President, Sphingotec LLC Cambridge, Massachusetts MedicalResearch: What is the background for this study? Response: In experimental studies, Neurotensin and neurotensin expression was highly associated to breast cancer tissue Dupouy et al (2009) investigated … Continue reading →
The post Elevated Neurotensin Level May Predict Breast Cancer in Women appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Karla M. Gonye, MBA. (2015) Elevated Neurotensin Level May Predict Breast Cancer in Women. MedicalResearch.com. info:/

  • July 29, 2015
  • 11:36 AM
  • 44 views

Protein Link Between Brain/Heart Function and Fertility

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Carmen J. Williams, M.D., Ph.D. Principal Investigator National Institute of Environmental Health Medical Research: What is the background for this study? Dr. Williams: G-protein coupled receptors are used by almost all cells to receive signals from the … Continue reading →
The post Protein Link Between Brain/Heart Function and Fertility appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Carmen J. Williams, M.D., Ph.D. (2015) Protein Link Between Brain/Heart Function and Fertility. MedicalResearch.com. info:/

  • July 29, 2015
  • 11:06 AM
  • 53 views

ACE Inhibitors Not A Good First Choice For Hypertension in Blacks

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Sripal Bangalore, MD, MHA, FACC, FAHA, FSCAI Director of Research, Cardiac Catheterization Laboratory, Director, Cardiovascular Outcomes Group, The Leon H. Charney Division of Cardiology, Associate Professor of Medicine, New York University Langone School of Medicine, Principal Investigator … Continue reading →
The post ACE Inhibitors Not A Good First Choice For Hypertension in Blacks appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Sripal Bangalore, MD, MHA, FACC, FAHA, FSCAI. (2015) ACE Inhibitors Not A Good First Choice For Hypertension in Blacks. MedicalResearch.com. info:/

  • July 29, 2015
  • 10:30 AM
  • 169 views

It’s 11 PM, Do You Know Where Your Organs Are?

by Mark Lasbury in As Many Exceptions As Rules

It’s a miracle that a human body ever works like it’s supposed to. So many things can go wrong and there’s so few ways for things to be right. Ever hear of a defect called situs ambiguus? It’s a big problem. And what’s more, when something like transposition of the great arteries occurs, it’s only a second defect that keeps the patients alive.... Read more »

  • July 29, 2015
  • 03:42 AM
  • 167 views

Gluten psychosis

by Paul Whiteley in Questioning Answers

"The present case-report confirms that psychosis may be a manifestation of NCGS [non-coeliac gluten sensitivity], and may also involve children; the diagnosis is difficult with many cases remaining undiagnosed."Elena Lionetti and colleagues [1] (open-access) provide an interesting read in today's post on how diet and psychiatry might once again be linked. Presenting a case report of a 14-year old girl coming to the attention of clinical services "for psychotic symptoms that were apparently associated with gluten consumption", the authors describe the experiences of an otherwise well child quite quickly developing various psychiatric symptoms. Although initially thought to be autoimmune encephalitis (see here) it became apparent that dietary gluten might be a culprit behind the psychiatric presentation and not necessarily because of the classical gluten-related autoimmune condition called coeliac (celiac) disease (CD) either."To our knowledge, this is the first description of a pre-pubertal child presenting with a severe psychotic manifestation that was clearly related to the ingestion of gluten-containing food and showing complete resolution of symptoms after starting treatment with the gluten-free diet." Well actually, it's not; as previous ramblings on this blog come to mind (see here) albeit not with the same serological profile as discussed in the Lionetti paper. Interestingly however is the 'autoimmune' link noted in the paper by Eaton and colleagues [2] potentially overlapping with the Lionetti case report: "The only abnormal parameters were anti-thyroglobulin and thyroperoxidase antibodies (103 IU/mL, and 110 IU/mL; v.n. 0–40 IU/mL)." In light of other 'psychiatric' manifestations correlating with autoimmune issues with thyroid function in mind (see here) I'm beginning to wonder whether there might be a few research studies to do in this area...Hopefully without plagiarising the Lionetti report, another long quote is coming up: "In our case report, the correlation of psychotic symptoms with gluten ingestion and the following diagnosis of NGCS were well demonstrated; the girl was, indeed, not affected by CD, because she showed neither the typical CD-related autoantibodies (anti-tTG and EMA) nor the signs of intestinal damage at the small intestinal biopsy. Features of an allergic reaction to gluten were lacking as well, as shown by the absence of IgE or T-cell-mediated abnormalities of immune response to wheat proteins. The double-blind gluten challenge, currently considered the gold standard for the diagnosis of NCGS, clearly showed that the elimination and reintroduction of gluten was followed by the disappearance and reappearance of symptoms." I might add that mention of 'leaky gut' in the Lionetti paper might offer a further expansion for the role of intestinal hyperpermeability in psychiatry (see here).Need I say any more aside from: (i) this being further evidence that Dohan might have been on to something and (ii) more scientifically controlled research is most definitely warranted. Oh, and that the spectrum of possible behavioural and/or psychiatric effects from gluten in some people may be expanding...Music: Shake Some Action.----------[1] Lionetti E. et al. Gluten Psychosis: Confirmation of a New Clinical Entity. Nutrients. 2015;7(7): 5532-5539.[2] Eaton WW. et al. Improvement in Psychotic Symptoms After a Gluten-Free Diet in a Boy With Complex Autoimmune Illness. Am J Psychiatry. 2015; 172: 219-221.----------Lionetti, E., Leonardi, S., Franzonello, C., Mancardi, M., Ruggieri, M., & Catassi, C. (2015). Gluten Psychosis: Confirmation of a New Clinical Entity Nutrients, 7 (7), 5532-5539 DOI: 10.3390/nu7075235... Read more »

Lionetti, E., Leonardi, S., Franzonello, C., Mancardi, M., Ruggieri, M., & Catassi, C. (2015) Gluten Psychosis: Confirmation of a New Clinical Entity. Nutrients, 7(7), 5532-5539. DOI: 10.3390/nu7075235  

  • July 29, 2015
  • 12:05 AM
  • 131 views

Should You be Nervous about Neural Changes Following ACL Surgery?

by Kyle Harris in Sports Medicine Research (SMR): In the Lab & In the Field

Following anterior cruciate ligament (ACL) surgery, patients have changes in the excitability of pathways that go from the brain (primary motor cortex) and down the spinal cord when compared with an uninjured limb as well as healthy control participants.... Read more »

Pietrosimone, B., Lepley, A., Ericksen, H., Clements, A., Sohn, D., & Gribble, P. (2015) Neural Excitability Alterations After Anterior Cruciate Ligament Reconstruction. Journal of Athletic Training, 50(6), 665-674. DOI: 10.4085/1062-6050-50.1.11  

  • July 28, 2015
  • 08:51 PM
  • 49 views

Sexual Function Improved With Lidocaine Cream in Breast Cancer Survivors

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Martha F. Goetsch, MD, MPH Oregon Health & Science University Portland, OR 97239 MedicalResearch: What is the background for this study? Dr. Goetsch: Women who are survivors of breast cancer now number about 3 million in the … Continue reading →
The post Sexual Function Improved With Lidocaine Cream in Breast Cancer Survivors appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Martha F. Goetsch, MD, MPH. (2015) Sexual Function Improved With Lidocaine Cream in Breast Cancer Survivors. MedicalResearch.com. info:/

  • July 28, 2015
  • 08:14 PM
  • 63 views

Overnight Sleep Loss Can Have Long Term Metabolic Consequences

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Jonathan Cedernaes M.D., Ph.D. Department of Neuroscience Uppsala University Sweden Medical Research: What is the background for this study? What are the main findings? Dr. Cedernaes: Previous studies have demonstrated that experimental sleep loss and simulated shift … Continue reading →
The post Overnight Sleep Loss Can Have Long Term Metabolic Consequences appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Jonathan Cedernaes M.D., Ph.D. (2015) Overnight Sleep Loss Can Have Long Term Metabolic Consequences. MedicalResearch.com. info:/

  • July 28, 2015
  • 07:15 PM
  • 39 views

Community-Acquired Pneumonia Requiring Hospitalization Remains Significant Burden Especially For Elderly

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Seema Jain, MD Medical Epidemiologist Epidemiology and Prevention Branch, Influenza Division Centers for Disease Control and Prevention Atlanta, GA 30329 Medical Research: What is the background for this study? What are the main findings? Dr. Jain: Community-acquired … Continue reading →
The post Community-Acquired Pneumonia Requiring Hospitalization Remains Significant Burden Especially For Elderly appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Seema Jain, MD. (2015) Community-Acquired Pneumonia Requiring Hospitalization Remains Significant Burden Especially For Elderly . MedicalResearch.com. info:/

  • July 28, 2015
  • 06:07 PM
  • 63 views

Bilateral Adrenal Incidentalomas May Have Different Etiology Than Unilateral

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Quan-Yang Duh MD Chief, Section of Endocrine Surgery UCSF Medical Center Medical Research: What is the background for this study? What are the main findings? Dr. Quan-Yang Duh: At UCSF we have a monthly Adrenal Conference (involving … Continue reading →
The post Bilateral Adrenal Incidentalomas May Have Different Etiology Than Unilateral appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Quan-Yang Duh MD. (2015) Bilateral Adrenal Incidentalomas May Have Different Etiology Than Unilateral. MedicalResearch.com. info:/

  • July 28, 2015
  • 05:50 PM
  • 39 views

Minorities Have Largest Gains In Health Care Access with ACA

by Marie Benz in MedicalResearch.com

MedicalResearch.com Interview with: Benjamin D. Sommers, MD, PhD Assistant Professor of Health Policy & Economics Harvard T. H. Chan School of Public Health / Brigham & Women’s Hospital Boston, MA 02115 Medical Research: What is the background for this study? … Continue reading →
The post Minorities Have Largest Gains In Health Care Access with ACA appeared first on MedicalResearch.com Medical Research Interviews and News.
... Read more »

Benjamin D. Sommers, MD, PhD. (2015) Minorities Have Largest Gains In Health Care Access with ACA. MedicalResearch.com. info:/

  • July 28, 2015
  • 01:35 PM
  • 132 views

Where memory is encoded and retrieved

by Dr. Jekyll in Lunatic Laboratories

Are the same regions and even the same cells of the brain area called hippocampus involved in encoding and retrieving memories or are different areas of this structure engaged? This question has kept neuroscientists busy for a long time. Researchers at the Mercator Research Group “Structure of Memory” at RUB have now found out that the same brain cells exhibit activity in both processes.... Read more »

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