Test 1 Blueprint Content Summary 1 Important 1 The number of questions on a test are roughly proportionate to amount of lecture time spent on that subject 2 Remember that the numbers of questions can only be estimated it is not exact On critical thinking tests material from different subject sections is often included in the same question 3 The information in these blueprint summary documents is comprised of an outline that covers most but not 100 of content material on a test To be as complete as possible in your studying make sure you have reviewed understood the objectives that can be found with each set of lecture Basic Concepts elements of this section will be scattered throughout test questions Genetic Disorders 4 6 questions 1 genetic disorders can be inherited like sickle cell many others or arise spontaneously in response to an influence in the womb such as alcohol or an irritant such as smoking that might stimulate the development of a cancer gene oncogene 2 one way to categorize genetic disorders is in four groupings disorders of mitochondrial DNA multifactorial chromosomal single gene 3 mitochondrial genetic disorders only small amt of DNA is in mitochondria most DNA is nuclear so these disorders rare 4 multifactorial disorders caused by combination of several influences including inheritance environment events in uterus etc examples are certain cancers heart disease teratogenic problems such as fetal alcohol syndrome thalidomide deformities 5 chromosomal aberrations chromosomal problems can be aberrations of NUMBER such as Down s syndrome AKA trisomy 21 this is known as a polysomy because there is an extra chromosome at the 21 st site chromosomal problems can be aberrations of STRUCTURE such as translocation an instance of this is seen in the development of the Philadelphia chromosome which leads to CML more info in cancer section at end 6 single gene disorders see chart at end of this blueprint for more info be able to use Punnett square for figuring out percent chance of child getting the disease being homozygous for a disease being heterozygous etc based on different combinations of parents examples o parents who are both homozygous for the disease o parents who are both heterozygous for the disease o one homozygous one heterozygous for the disease o one with totally normal genotype and so forth 3 categories autosomal dominant autosomal recessive sex linked autosomal recessive key feature is that at a given site on a pair of chromosomes the normal allele is dominant the abnormal allele is recessive so for anyone to HAVE a recessive disease must have received from each parent a recessive bad gene so that they are homozygous recessive ex of dz s in this category sickle cell mutated bad gene codes for malfunctioning Hgb leading to sickled RBCs which cannot carry O2 well S S of SOB fatigue get stuck in capillaries ischemic pain autosomal dominant key feature is that at a given site on a pair of chromosomes the normal allele is recessive the abnormal allele is dominant greater chance for someone to get this dz because unlike recessive disorders in which only a homozygous recessive genotype gets the dz there are two dominant genotypes that can result in phenotype homozygous dominant heterozygous 2 ex PKD mutated bad gene codes for malfunction in development of kidneys cysts throughout kidney tissue S S of hematuria pain kidney failure sex linked AKA X linked recessive key feature is that X linked diseases involve mutated gene that occurs on the X chromosome only and this abnormal gene is recessive NOT so for anyone to HAVE an X linked recessive disease must have received from one parent ON an X that has the recessive bad gene TEST since most of the time women don t receive 2 bad X s it is the male who most often gets the disease dominant is normal is notated this way XH recessive is abnormal notated Xh Y is just Y because it doesn t have a comparable site for the gene ex of dz in this category hemophilia mutated bad gene codes for malfunction in development of coagulation factors without certain coagulation factors e g Factor X Factor VIII person will bleed more easily Alterations in Fluids Electrolytes Intracellular Functions 15 16 questions INTRACELLULAR FUNCTIONS 1 ultimately disruptions in cellular function and especially the metabolic pathway is what causes most diseases or vice versa these disruptions can take form of hypoxia nutritional problems changes in acid base balance changes in balance of electrolytes and other solutes changes in fluid distribution 2 see concept map for how hypoxia and nutritional alterations fit are altered by disease or cause disease NORMAL metabolic processes start with eating carb breakdown glucose insulin normal pathway if too much glucose glycogen conversion if not enough glucose more glucose unavailable back up plans of glycogenolysis first gluconeogenesis 2nd used sequelae of problems with nutrition glycogen storage diseases ex McCardle s can t use glycogenolysis as back up plan so has exercise intolerance prolonged gluconeogenesis as in Type I diabetes fatty acids ketones ketonemia ketoacidosis ketonuria acetone breath if lack of vitamins minerals no niacin for NADH no thiamine for acetyl CoA no Fe for electron transport chain etc cellular metabolic pathway efficiency reduced less ATPs less energy other dz s include scurvy lack of vitamin C collagen probs such as soft gums losing teeth beriberi lack of thiamine probs w memory paresthesia one type is Wernicke Korsakoff associated w alcoholism sequelae of hypoxia o not enough ATP only 2 are made in anaerobic glycolysis and o lots of pyruvic acid made lactic acid builds up 3 acid base imbalance see page 12 of notes ABGs interpretation document for summaries metabolic acidosis pH 7 35 HCO3 low o results from situations that cause one or more of the following accumulation of too much H not enough H excreted in urine not enough HCO3 being made too much HCO3 excreted o ex kidney failure DKA poisons etc o compensation by lungs increase amt of CO2 exhaled by hyperventilating respiratory acidosis pH 7 35 HCO3 normal o caused by respiratory problems resulting in CO2 retention o compensation by kidneys decrease amt of acid by making more HCO3 or excreting more H metabolic respiratory alkalosis opposite from above 3 ALTERED ELECTROLYTE SOLUTE STATUS FLUID SHIFTS 1 2 electrical alterations when solute status changes in one compartment domino effect eventually occurs changes in other