Saturday, March 11, 2017
Monday, March 06, 2017
|Do Cell Phones Cause Cancer?|
Cochrane level meta-analyses are very strong from a data perspective.
Until there is more data, it seems reasonable to use hand free systems or headphones to keep the phone away from the head.
As an aside, industry funding did not bias studies.
Mobile phone use and risk of brain tumours: a systematic review of association between study quality, source of funding, and research outcomes
Authors Manya Prasad Prachi Kathuria Pallavi Nair Amit Kumar Kameshwar Prasad
First Online: 17 February 2017
Cite this article as:
Prasad, M., Kathuria, P., Nair, P. et al. Neurol Sci (2017). doi:10.1007/s10072-017-2850-8
Mobile phones emit electromagnetic radiations that are classified as possibly carcinogenic to humans. Evidence for increased risk for brain tumours accumulated in parallel by epidemiologic investigations remains controversial. This paper aims to investigate whether methodological quality of studies and source of funding can explain the variation in results. PubMed and Cochrane CENTRAL searches were conducted from 1966 to December 2016, which was supplemented with relevant articles identified in the references.
Twenty-two case control studies were included for systematic review. Meta-analysis of 14 case–control studies showed practically no increase in risk of brain tumour [OR 1.03 (95% CI 0.92–1.14)]. However, for mobile phone use of 10 years or longer (or >1640 h), the overall result of the meta-analysis showed a significant 1.33 times increase in risk.
The summary estimate of government funded as well as phone industry funded studies showed 1.07 times increase in odds which was not significant, while mixed funded studies did not show any increase in risk of brain tumour.
Metaregression analysis indicated that the association was significantly associated with methodological study quality (p < 0.019, 95% CI 0.009–0.09).
Relationship between source of funding and log OR for each study was not statistically significant (p < 0.32, 95% CI 0.036–0.010).
We found evidence linking mobile phone use and risk of brain tumours especially in long-term users (≥10 years).
Studies with higher quality showed a trend towards high risk of brain tumour, while lower quality showed a trend towards lower risk/protection.
Saturday, February 18, 2017
A fair bit is known about how to use diet to enhance or ameliorate brain function after brain injury. - JR
Traumatic brain injury and diet
Increasing attention is being paid to nutritional and metabolic management of traumatic brain injury patients. The gross metabolic changes that occur after injury have been found to be influenced by both macronutrients, that is, dietary ratios of fat, carbohydrates, and protein, and micronutrients, for example, vitamins and minerals. Alterations in diet and nutritional strategies have been shown to decrease both morbidity and mortality after injury. Despite this knowledge, defining optimal nutritional support following traumatic brain injury continues to be an ongoing challenge. Keywords brain, injury, metabolism, ketones, substrate, pituitary
April 1, 2013.
Brain Metabolism After Traumatic Brain Injury Traumatic Brain Injury
Traumatic brain injury occurs more than any other disease in the United States, with an annual incidence of 3.5 million new cases. It affects men and women of all age groups, with the greatest incidence among children under 4 years of age and 14 to 19 years old. Traumatic brain injury is caused by the rapid movement of the brain within the skull and does not require direct contact with an object for injury to occur. Although there are pathophysiological similarities between glutamate excitotoxicity and hypoxic and ischemic brain injuries, it is the movement of the brain during traumatic brain injury that produces its unique time course and complex dysfunction.
Good care matters
...‘Cerebral palsy’ continues to be used as a diagnostic bucket into which any physically disabling condition is dumped, without the careful precision of diagnostic assessment advocated by the Surveillance of Cerebral Palsy in Europe's freely available Reference and Training Manual (2016; http://www.scpenetwork.eu). Different diagnoses bring different associated conditions, patterns of inheritance, and outcomes. Diagnostic precision matters....
Prevention of dislocation of the hip in children with cerebral palsy
20-year results of a population-based prevention programme
Tuesday, February 14, 2017
Smog, Sperm and other possible environmental links to autism ... oh yes... BUT NOT VACCINES, MR. TRUMP.
Health Promot Chronic Dis Prev Can. 2017 Jan;37(1):1-23.
Environmental factors associated with autism spectrum disorder: a scoping review for the years 2003-2013.
[Article in English, French; Abstract available in French from the publisher]
FULL ARTICLE HERE
The number of children diagnosed with autism spectrum disorder (ASD) has been rapidly rising in the past decade. The etiology of this disorder, however, is largely unknown, although the environmental relative to the genetic contribution is substantial. We conducted a scoping review to comprehensively assess the current state of knowledge of the environmental factors present from preconception to early life associated with ASD, and to identify research gaps. We searched electronic databases MEDLINE, PsycINFO and ERIC for articles on potential risk factors or protective factors from the physical and social environments associated with ASD and its subclassifications published between 1 January, 2003, and 12 July, 2013. We categorized articles into broad themes: chemical, physiological, nutritional and social factors, based on environmental exposure. We identified over 50 000 publications, but after ineligible studies were screened out, 315 articles remained. Most of these studies examined physiological factors, followed closely by chemical factors, and to a much lesser extent, nutritional and social factors, associated with ASD. Despite a vast literature and many heterogeneous studies, several risk factors emerged consistently: chemical factors such as traffic-related air pollutants; physiological factors including advanced parental age, preterm birth, low birth weight, hyperbilirubinemia and clustering of pregnancy complications; and maternal immigrant status. Despite extensive research on vaccines, findings overwhelmingly demonstrate no support for an association with ASD. The lack of consistency, temporality and specificity of associations between environmental factors and ASD remains the largest barrier to establishing causal relationships. More robust research is required to resolve inconsistencies in the literature. Future research should explore underlying mechanisms of associations between the risk factors that we identified and ASD.
ASD; autism; autism spectrum disorder; environmental exposure; etiology
De novo missense variants in CACNA1A can cause congenital cerebellar ataxia with global developmental delay
More information about the early utitlity of genetic testing for children with delay. Gratified to be included with these colleagues. - JR
PgmNr 2385: Link to American Society Human Genetics
De novo missense variants in CACNA1A can cause congenital cerebellar ataxia with global developmental delay.Authors:
J.A. Rosenfeld 1 ; T. Harel 1 ; X. Luo 1 ; S. Yamamoto 1 ; M. Hall 2 ; K. Wierenga 2 ; M. Pastore 3 ; D. Bartholomew 3 ; M. Delgado 4 ; Joshua Rotenberg 5 ; R.A. Lewis 1 ; M. Almannai 1 ; L. Emrick 1 ; T. Lotze 1 ; M. Ummat 1 ; C.A. Bacino 1 ; M. Eldomery 1 ; Z. Coban Akdemir 1 ; F. Xia 1 ; H. Bellen 1 ; J. Lupski 1 ; Y. Yang 1 ; B. Lee 1 ; S.R. Lalani 1 ; M. Wangler 1 ; Members of the UDN
1) Molecular & Human Genetics, Baylor College of Medicine, Houston, TX.; 2) University of Oklahoma Health Sciences Center, Oklahoma City, OK; 3) Nationwide Children's Hospital & The Ohio State University, Columbus, OH; 4) Texas Scottish Rite Hospital, Dallas, TX; 5) Houston Specialty Clinic, Houston, TX
Variants in CACNA1A [MIM 601011], encoding the α-1A subunit of the neuronal P/Q type voltage-dependent Ca2+ channel, are known causes of ataxia: triplet repeat expansions extending a polyglutamine tract in the protein cause adult-onset spinocerebellar ataxia, type 6 [MIM 183086], and heterozygous variants (typically loss-of-function) cause childhood-onset episodic ataxia, type 2 [MIM 108500]. Additionally, missense variants in the gene cause autosomal dominant familial hemiplegic migraines [MIM 141500].
We report five individuals with congenital, non-fluctuating ataxia, hypotonia, ophthalmologic abnormalities, and global developmental delay. Four individuals had a recurrent, de novo c.4991G>A/p.R1664Q variant, which has been described previously in another individual with early-onset, persistent limb and trunk ataxia. The fifth individual has a de novo missense variant, c.5018G>C/p.R1673P. Both missense variants alter arginine residues within the fourth transmembrane domain, changing the pattern of positive charges within the voltage sensor. This pattern is also altered by other severe pathogenic alleles, suggesting that more severe clinical phenotypes could result from disruption of this specific domain. A sixth individual with a severe presentation of neonatal stroke and subsequent refractory epilepsy had a de novo variant within this transmembrane domain, c.5075T>A/p.L1692Q.
To explore the functional consequences of these variants, we generated a loss-of-function (LOF) allele in the homologous gene (cac) in Drosophila that will allow expression of these human variant forms. This LOF allele recapitulates the lethal phenotypes previously observed in cac mutant flies. Human variants will be assessed through their ability to rescue the loss of cac in Drosophila photoreceptors, where conditional knockout causes neurodegeneration, synaptic transmission deficits and neuronal accumulation of autophagic vesicles.
This cohort, combined with previous reports, shows that variants in CACNA1A can cause congenital non-fluctuating cerebellar ataxia and other severe neonatal presentations, thus expanding the spectrum of ataxia and other features associated with this important neuronal calcium channel gene. Functional studies in model organisms will provide further insight into this disease spectrum.