notes of Jferrara MD http://members.tripod.com/~uncljoedoc/index.html metabolic diseases-defined as: inborn errors of metabolism -diseased chemical transformation or process due in turn to an underlying genetic abnormality. there are about 100 enzymes with known congenital defect syndromes. mucopolysaccharidoses albinism phenylketonuria cystinuria renal glycosuria galactosemia glucose6-phosphate dehydrogenase deficiency possible genetic abnormalities (DNA) include point mutations deletions insertions which effect protein metabolism which in turn effect cellular and organ function. This is the level which is usually seen on clinical presentation. Disorders of carbohydrate metabolism Hereditary galactosemia galactokinase deficiency - early cataract formation galactose-1-phosphate uridyl transferase deficiency uridine diphosphate-4-epimerase deficiency Glycogen storage diseases hepatorenal glucose-6-phosphatase deficiency Von Gierke's debranching enzyme deficiency muscular --- screening tests are done for congenital hypothyroidism pku galactosemia galactokinase deficiency maple syrup urine disease homocystinuria biotinidase deficiency raloxifene a selective estrogen-receptor modulator for osteoporosis prevention has a low risk of thrombo-embolic disease esterified estrogens,calcium, and exercise also used quantitative ultrasound an attractive alternative to dual energy xray absorptiometry in diagnosis of osteopenia. Tamoxifen increases the risk of endometrial cancer. Salmonella Typhi resistant strains are being seen Amoxil, Bactrim, Chloramphenicol, and Cipro resistant strains Rocephin is useful but expensive typhoid fever typhoid endemic areas Middle East Africa Southeast Asia typhoid vaccine Community Acquired Pneumonia Critical care oxygen transport imbalance (oxygen supply and demand) measured by CO Sa02 Hemoglobin and Oxygen Consumption screened by continuous venous oximetry requiring pulmonary artery catheter caused by cardiopulmonary dysfunction cardiogenic shock acute respiratory failure oxygen consumption The Fick calculation O2 consumption = CO x arterial-venous oxygen content difference Oxygen uptake is measured from differences in the insp and exp gases Oxygen consumption is calculated according to the Fick Equation DO2 Oxygen delivery nutritional intervention enteral feedings protect the gut from mucosal atrophy and bacterial invasion difficulties include inadequate gastric emptying jejunal feeding advantageous in the short run for this reason biliary T tube Stamm Witzel xylocaine dosage total should not exceed 4.5 mg/kg without epinephrine 7.0 mg/kg with epinephrine watching a pneumothorax a spontaneous pneumothorax without features of tension pneumothorax may be watched if less than 25 percent total collapse less than 4cm apical collapse or less than 1cm lateral collapse reabsorption occurs at 1.25 percent of lung volume per day must insert chest tube in case of respiratory embarrasment increase in the size of the pneumothorax guidelines for surgery for hemothorax greater than 800 mls initial blood loss on presentation systolic blood pressure less than 90 on presentation -or- continued loss of 150 to 200 mls hourly for four hours. chest tube consider bronchopleural fistula for air leak of over a week may put a rubber glove with hole in finger over tube as a one way valve if necessary. fourth or fifth intercostal space anterior axillary line spontaneous bacterial peritonitis fever abdominal pain leucocytosis diagnostic paracentesis drain the bladder with a Foley, correct bleeding diathesis see Civetta for details of tests may dip effluent for glucose and protein which will be present in ascites but not urine diagnostic peritoneal lavage drain the bladder leave siphon effect in the delivery tube aspiration of 10cc's of gross blood initially is a positive test aspiration of 20cc's correlates 100 percent with intraabdomenal injury use hemocytometer (not Coulter counter) for cell count