Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Using Anatomy and Physiology • Patient has symptoms and signs. • Doctor tests for specific diseases, and hits the books! –Or, Actually… The Web… • Online Mendelian Inheritance in Man – database that collects information on diseases and disorders. • Can be searched for symptoms and signs to help diagnosis problems. • Using the OMIM search we can find genetic causes and gene malfunctions. • Often specific genes can influence many systems… and we need to know how to help the patient. • Has an unusual set of medical problems. –Premature –Has a large head (macrocephaly) –Seizures –Abnormal eye alignment (stabismus) –Atrial Septal defect –Mom had polyhdroamniosis during pregnancy … • As our young patient grows up we notice… –Limited social contact –Enlarged cerebral ventricles –Increased urine output, but low level of salts –Calcium within the kidneys (nephrocalcinosis) • Does not fit “neatly” into our normal diagnosis. • Time for research. • Step one: OMIM –http://www.ncbi.nlm.nih.gov/sites/entrez?db=om im • Step two: search his symptoms… • How many results did we get? • If we change our symptoms do our results change? • How can we be sure of our diagnosis? The fewer search results the better, but only one or two is very limiting and can lead you the wrong way. • SEARCH: macrocephaly AND polyhydramnios AND seizures • Results: 8 • Options: –POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY –D-BIFUNCTIONAL PROTEIN DEFICIENCY –CARDIOFACIOCUTANEOUS SYNDROME –OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS –COSTELLO SYNDROME • Many of our possible search results can give us a variety of symptoms, some our patient has and some he does not. • Now what? • Look at others with the same symptoms… do they have anything in common? • Our patient and several other children have the same symptoms. • They do not live close enough to have a common environmental cause to the disease. • They all have unaffected siblings… So Doc, NOW WHAT? • But for what? We know they have the same symptoms… • For any type of genetic similarities NOT common to the rest of the population… • We look at a Microarray! • This cool bio tool looks for areas of homozygosity (both alleles the same) in a person who has the disease, that is NOT present in those who do not…