Lecture_3_Basic_Pathophysiology - Basic Pathophysiology Disease Diagnosis Treatment and Biochemical and Cellular Mechanisms Disease A failure to

Lecture_3_Basic_Pathophysiology - Basic Pathophysiology...

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Unformatted text preview: Basic Pathophysiology Disease, Diagnosis, Treatment and Biochemical and Cellular Mechanisms Disease “A failure to maintain homeostatic conditions” Illness, Sickness – the subjective experience of disease Disorder – less stigmatizing term Medical Condition – current state of the body, not always a disease (e.g. pregnancy is a medical condition but not disease) Syndrome – a collection of symptoms without clear explanation; often a treatment exists despite limited understanding; sometimes merely a historical term Injuries, Disabilities – usually limited to physical damage to the body Infection – disease caused by the presence of a microorganism Pathophysiology Pathophysiology – the study of disease and its manifestations Etiology – the study of cause (in this case, the cause of disease) Mechanism of disease – the way in which homeostasis fails (How do we get from the etiology to the pathophysiology?) Signs/Symptoms (S/Sx) (Effect) Symptom – the patient’s perception of a change in normal body function Pain – a symptom usually associated with disease and specifically tissue damage Sign – the physical manifestation of disease Lesion – a sign resulting from a change in structure of cells or tissues Mechanisms (Cause) Pathogens – bacteria, viruses, fungi, parasites, prions, viroids etc. infection/infestation Genetic traits Degenerative changes usually associated with aging Trauma, toxins, environmental hazards Nutritional factors Loss of normal regulatory control mechanisms Diagnosis To determine the etiology of a patient’s signs and symptoms and, by extension, a solution or treatment Differential Diagnosis (DDx) – the technique usually used to do this 1. Collect some basic information from an exam. 2. Generate a list of possible diagnoses. (Consult specialists.) 3. Systematically differentiate the possibilities with medical testing until only one remains. History (Hx), Physical Exam (Px) [H&P] Medical Tests The History Chief Complaint (CC) Hx of Present Illness (HPI) Past Medical Hx (PMHx) Past Surgical Hx (PSHx) Medications Allergies/Reactions Family Medical History (FMHx) Social Hx Obstetric/Gynecological Hx Review of Systems (ROS) Pain Onset, Origin Provocation, Palliation Quality Region, Radiation Severity Time Changes Physical Exam Four techniques Inspection – Look Palpation – Feel/Press Auscultation – Listen Percussion – Tap and Listen (a more specialized, less common technique) Other senses (smell, taste) Physical Exam Systematic body part by body part examination HEENT – Head, Eyes, Ears, Nose, Throat Chest Abdomen Pelvis/Genitals Limbs Back Medical Tests Biopsy – a sample of tissue taken from a patient for examination in a lab Imaging – endoscopy, X-rays, CT scan, MRI, ultrasound Monitoring – keep track of the body’s physiological processes over time Testing a response – introduce a stimulus/stress and measure the response SOAP(IER) Subjective Objective Assessment Plan Interventions Evaluation Referral/Report Treatments (Rx) Counseling, Advising Psychiatric Therapy Diet Exercise and Physical Therapy Pharmacological Therapy Radiation Treatments Surgical Intervention Diseases at the Biochemical Level of Organization Phenylketonuria (PKU) Albinism Color Blindness Juvenile Macular Dystrophy Sickle Cell Anemia Phenylketonuria A genetic disorder that leads to the absence of a specific protein, an enzyme called phenylalanine hydroxylase Phenylalanine is not converted into tyrosine; tyrosine is important for protein synthesis and making melanin, epinephrine, norepinephrine, dopamine and other substances necessary in the body Phenylketonuria Not only does PKU cause the lack of tyrosine and derived substances, but phenylalanine builds up in blood/tissues/urine Breast milk contains high levels of phenylalanine and if PKU is not detected, newborns will not develop properly (esp. the nervous system) Babies are routinely tested once breast feeding begins to detect the disease Phenylketonuria Early diagnosis is key to positive prognosis No cure, but treatment is by diet management Low phenylalanine foods, education about the disease For example, Aspartame (Nutrasweet) contains phenylalanine; patients must avoid it Albinism Another genetic disorder, enzyme deficiency Tyrosine is not processed and melanin cannot be produced Signs include very pale, white skin, lack of coloration in hair and eyes as well An abnormal medical condition, but not directly harmful itself Albinism Melanin functions primarily to absorb UV light and prevent damage to the DNA in the body’s cells, especially in the skin With albinism, the lack of melanin means a risk for DNA damage and skin cancer Albinism Risk of skin cancer is the primary concern No cure Treatment is management of risk Sunscreen and avoiding UV sunlight Social concerns as well Color Blindness Genetic trait leading to a lack of one color receptor in the retina Sickle Cell Anemia Genetic trait; hemoglobin protein is mishapen Distorts red blood cell shape and decreases oxygen carrying ability Sickle Cell Anemia Distorted cells are little hooks that clump together and get stuck in small blood vessels Very painful during exertion Homozygous form is more severe Sickle Cell Anemia No cure Treatment is to manage exertion Blood transfusion can be done to replace cells but life span of RBC is about 120 days so treatment must be repeated Oxygen therapy to correct decreased ability to carry oxygen Exercise and fitness must be carefully guided to prevent overproduction of sickle cells Juvenile Macular Dystrophy Genetic malfunction of a membrane transport protein Rod cells produce a substance that is normally taken up by the pigment epithelium using this protein That substance damages cone cells Juvenile Macular Dystrophy Cones located mostly in center of eye (macula) Central visual acuity loss Peripheral vision is still generally good No cure; glasses/magnifiers can help manage ...
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