TGI Friday! | Our weekly round-up of recently published research abstracts | 28 October 2016

English translation of an article published in Socialmedicinsk tidskrift, Stockholm, 28 September 2016

Studies on Cognitive Behavioral Therapy and Graded Exercise Therapy for ME/CFS are misleading

Sten Helmfrid
Assoc. Prof. of Physics, Member of the Swedish ME Association

Abstract

There have been a number of studies on Cognitive Behavioral Therapy (CBT) and Graded Exercise Therapy (GET) for ME/CFS ba

sed on a treatment model where the disease is perpetuated by cognitive processes. Although the studies are flawed and the model lacks scientific support, the treatments are described as evidence based.

The studies are non-blinded and rely on subjective outcomes. There are no objective measures of adherence. The diagnostic criteria vary, and the participating patients often have one or several psychiatric diagnoses apart from suffering from chronic fatigue. The underlying model has no theoretical foundation and is at odds with physiological findings.

Surveys suggest that the efficacy of CBT is no better than placebo and that GET is harmful. Therefore, cognitive behavioral therapy and graded exercise therapy for ME/CFS are not evidence based.


From Nature Genetics, published online 17 October 2016 (open access)

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Jonathan J Lyons(1), Xiaomin Yu(1), Jason D Hughes(2), Quang T Le(3), Ali Jamil(1), Yun Bai(1), Nancy Ho(4), Ming Zhao(5), Yihui Liu(1), Michael P O’Connell(1), Neil N Trivedi(6,7), Celeste Nelson(1), Thomas DiMaggio(1), Nina Jones(8), Helen Matthews(9), Katie L Lewis(10), Andrew J Oler(11), Ryan J Carlson(1), Peter D Arkwright(12), Celine Hong(10), Sherene Agama(1), Todd M Wilson(1), Sofie Tucker(1), Yu Zhang(13), Joshua J McElwee(2), Maryland Pao(14), Sarah C Glover(15), Marc E Rothenberg(16), Robert J Hohman(5), Kelly D Stone(1), George H Caughey(6,7), Theo Heller(4), Dean D Metcalfe(1), Leslie G Biesecker(10), Lawrence B Schwartz(3) & Joshua D Milner(1).
1) Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, US National Institutes of Health, Bethesda, Maryland, USA.
2) Merck Research Laboratories, Merck & Co. Inc., Boston, Massachusetts, USA.
3) Department of Internal Medicine, Virginia Commonwealth University, Richmond, Virginia, USA.
4) Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, US National Institutes of Health, Bethesda, Maryland, USA.
5)Research Technologies Branch, National Institute of Allergy and Infectious Diseases, US National Institutes of Health, Rockville, Maryland, USA.
6) Cardiovascular Research Institute and Department of Medicine, University of California at San Francisco, San Francisco, California, USA.
7) Veterans Affairs Medical Center, San Francisco, California, USA.
8) Clinical Research Directorate/CMRP, SAIC-Frederick, Inc., Frederick National Laboratory for Clinical Research, Frederick, Maryland, USA.
9) Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, US National Institutes of Health, Bethesda, Maryland, USA.
10) Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA.
11) Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, US National Institutes of Health, Bethesda, Maryland, USA.
12) Institute of Infection, Immunity and Respiratory Medicine, University of Manchester, Royal Manchester Children’s Hospital, Manchester, UK.
13) Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, US National Institutes of Health, Bethesda, Maryland, USA.
14) National Institute of Mental Health, US National Institutes of Health, Bethesda, Maryland, USA.
15) Division of Gastroenterology, Hepatology, and Nutrition, University of Florida, Gainesville, Florida, USA.
16) Division of Allergy and Immunology, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA. Correspondence should be addressed to J.D.M. (jdmilner@niaid.nih.gov).

Abstract

Elevated basal serum tryptase levels are present in 4–6% of the general population, but the cause and relevance of such increases are unknown(1,2).

Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility.

Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding a-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints.

Individuals harboring alleles encoding three copies of a-tryptase had higher basal serum levels of tryptase and were more symptomatic than those with alleles encoding two copies, suggesting a gene-dose effect. Further, we found in two additional cohorts (172 individuals) that elevated basal serum tryptase levels were exclusively associated with duplication of a-tryptase–encoding sequence in TPSAB1, and affected individuals reported symptom complexes seen in our initial familial cohort.

Thus, our findings link duplications in TPSAB1 with irritable bowel syndrome, cutaneous complaints, connective tissue abnormalities, and dysautonomia.


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