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Published online 15 September 2008 | Nature | doi:10.1038/455274b
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Gene chips unmask cryptic diseases
Microarrays zero in on small DNA defects.
People with diverse symptoms including mental retardation, small head size, heart problems and cataracts have genomic rearrangements on the same region of chromosome 1, researchers reported last week.
A team led by genome scientist Evan Eichler at the University of Washington in Seattle linked deletions and duplications in a region of chromosome 1 that is 1.
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As I wrote previously on Nature.com various blogs, whatever gene mutation brings about biological system functional modification.On the basis of 52-year-long clinical experience, part of it with the aid of Biophysical Semeiotics, I?dd like to state that common human disorders may occur exclusively in individuals with ?related constitution? and Inherited Real Risk, bedside recognized with a simple stethoscope (1-9). In addition,heart coronary disorders may occur only in subjects showing since birth CAD ?inherited real risk?, characterized by local microcirculatory remodelling, based on newborn-pathological, type I, subtype a) ONCOLOGICAL, and/or b) aspecific, Endoarteriolar Blocking Devices (1-4) See my web site. In fact, nowadays clinicians should evaluate and treat first of all such as individuals, recognized bedside, and enrolled in primary prevention on very large scale. A lot of other constitutions may be clinically diagnosed in a quantitative way (1-3). Furthermore, at the base of these alterations there are both parenchymal and microvascular inherited alterations (n-DNA and mit-DNA), the later parallel the former, according to my theory of Angiobiopathy, which completes Tischendorf?s Angiobiotopy theory (1-6). As a matter of fact, alterations of microvascular tissue units, and particularly newborn-pathological, type I, sub-type b), Endoarterial Blocking Devices (EBD) in small arterioles, according to Hammersen, account for the reason that great arterial vessels and particularly microvessels show an impaired motility ,i.e., vasomotility and vasomotion, and than tissue acidosis. (1-6). Indeed, neither all dyslipidaemics nor diabetics present metabolic syndrome, both classic and ?variant?, I described formerly (1- 6) Certainly, early interventions against these inherited alterations represent the efficacious primary prevention, reducing the risk rheumatic diseases. However, in my long clinical experience, we must go beyond the known risk factors. In fact, Primary Prevention of the most common and dangerous human pathologies, depends clearly by easy and quick bed-side detecting individuals at "real risk? since bith, i.e. involved by well- defined biophysical-semeiotic constitution, assessed clinically in a quantitative way (5). In order to define clinically a particular constitution and related real risk, which does not exclude the presence of a lot of other constitutions, of course, it is necessary to think over the current possibility of gathering at the bed -side biophysical-semeiotic data, rich of biological and molecular- biological information on the various human organs, tissues and biological systems, so that doctor can describe numerous types of biophysical- semeiotic constitutions, even from the quantitative point of view. Without any doubt, these data can not be observed at all by the aid of neither traditional physical semeiotics nor sophysticated semeiotics, the later on very large scale, of course, unable of carrying molecular-biological events to clinical dimension, which really represents the most original and fertile aspect of Biophysical Semeiotics, which really allows doctor to make correctly early diagnosis. References 1) Stagnaro S., Stagnaro-Neri M., Le Costituzioni Semeiotico- Biofisiche.Strumento clinico fondamentale per la prevenzione primaria e la definizione della Single Patient Based Medicine. Travel Factory, Roma, 2004. http://www.travelfactory.it/libro_costituzionisemeiotiche.htm 2) Stagnaro-Neri M., Stagnaro S. Introduzione alla Semeiotica Biofisica. Il Terreno Oncologico. Travel Factory, Roma, 2004. http://www.travelfactory.it/semeiotica_biofisica.htm 2004 3) Stagnaro S., Stagnaro-Neri M., Single Patient Based Medicine.La Medicina Basata sul Singolo Paziente: Nuove Indicazioni della Melatonina. Travel Factory, Roma, 2005. http://www.travelfactory.it/libro_singlepatientbased.htm 2005 4) Stagnaro S., Auscultatory Percussion of Rheumatic Diseases. X European Congress of Rheumatology. Moscow. 26 June-July, 1983, Proceedings, pg 175 5) Stagnaro S., Auscultatory Percussion Therapeutic Monitoring and Cerebral Dominance in Rheumatology. 2nd World Congress of Inflammation, Antirheumatics, analgesics, immunomodulators. Abstracts, A. Book 1, pg. 116, March 19-22, 1986,Montecarlo. 6) Stagnaro-Neri M., Stagnaro S., Diagnosi Clinica Precoce dell?Osteoporosi con la Percussione Ascoltata. Clin.Ter. 137, 21-27, 1991 [MEDLINE] . 7) Stagnaro S., Polimialgia Reumatica Acuta Benigna Variante. Clin. Ter. 118, 193, 1986 [MEDLINE]. 8)Stagnaro Sergio. Newborn-pathological Endoarteriolar Blocking Devices in Diabetic and Dislipidaemic Constitution and Diabetes Primary Prevention. The Lancet. March 06 2007. http://www.thelancet.com/journals/lancet/article/PIIS0140673607603316/ comments?totalcomments=1 9) Stagnaro Sergio. Biological System Functional Modification parallels Gene Mutation. www.Nature.com, March 13, 2008,http://blogs.nature.com/nm/spoonful/2008/03/gout_gene.html
This is a great finding that will help diagnose some of these conditions much earlier. However, we run a risk of mixing "association" with "causality"--its too early in the game. Also, we might risk ignoring the entire dataset from the study of twins where epigenetics appears to play a larger than hitherto expected role. Ijaz S. Jamall, Ph.D., DABT Risk-Based Decisions, Inc. Sacramento, CA, USA