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Introduction: Chapter 1

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1 Introduction: Chapter 1
Human Diseases Introduction: Chapter 1

2 Definitions Disease Disorder or cessation of body functions, systems or organs having at least 2 of the following: Recognized etiology Identifiable group of symptoms and signs Consistent anatomic alteration

3 Definitions Illness Syndrome
Condition of the patient experiencing the disease Syndrome Group of signs & symptoms associated with any disease that together constitute a picture of that disease

4 Definitions Symptom Sign Complaints of the patient Subjective
Abdominal pain, shortness of breath, etc. Sign Physical findings Objective Labored respirations, pallor, etc.

5 Disease Categories According to etiology (cause)
Infectious, traumatic, hereditary, etc According to body system involved Cardiac, respiratory, dermatologic, etc

6 Disease Categories Acute vs. chronic Multiple system vs. single system
Focal vs. diffuse Organic vs. psychological Age group (pediatric vs. geriatric)

7 How a diagnosis is made SOAP format S = subjective = symptoms
Patient complaints and observations O = objective = signs Physical exam, tests by examiner A = assessment (suspected diagnosis) Differential diagnoses P = plan (further tests & treatment)

8 Etiology The cause of the disease Many diseases are multifactorial
More than one causal factor Adult onset diabetes, addictions Predisposing factors: Condition making a person more susceptible to developing a disease Hypertension, diabetes, colon polyps, etc

9 Hereditary Diseases Due to abnormalities of DNA or chromosomes
Not the same as congenital disease Recognizable at birth May affect any or multiple organ systems, various severities May not be apparent at birth

10 Terminology: Genetics
Chromosome 23 pairs, counting 2 sex chromosomes Homozygous Heterozygous Genotype Phenotype Mutation

11 Hereditary Diseases: Categories
Mendelian alterations One gene involved Chromosomal alterations Part or all of a chromosome involved Multiple genes involved Multifactorial errors

12 Mendelian Disorders Mutation in a single gene Subcategories: Recessive
Dominant Sex-linked Autosomal

13 Mendelian Disorders Autosomal disorders
Two identical copies of a gene exist Recessive disease Will not manifest if there is at least one normal copy of the gene Dominant disease Will manifest if there is even one abnormal copy of the gene

14 Autosomal Disorders: Examples
Autosomal Recessive Cystic fibrosis, Tay-Sachs disease, PKU, cretinism, sickle cell anemia Autosomal Dominant Diabetes insipidus, retinoblastoma

15 Other Mendelian Disorders
Sex-linked or X-linked Hemophilia Duchenne’s Muscular Dystrophy

16 Hereditary Diseases: Chromosomal
Abnormalities in chromosome number or chromosome structure Mechanisms of these alterations: Additions Deletions Translocations

17 Chromosomal Diseases: Examples
Trisomy 21 (Down Syndrome) Klinefelter’s Syndrome (XXY) Turner’s Syndrome (missing X)

18 Disease Category: Inflammatory
Inflammation Cascade of numerous chemical reactions Increase local WBC and edema Acute or chronic Response to many stimuli Physical agents, toxins, infections, trauma, allergens, chemicals

19 Inflammatory Diseases
Signs and Symptoms Edema Erythema Pain/tenderness Warmth Variable loss of function

20 Disease Category: Infectious
Infection: Invasion and multiplication of pathogenic organisms in the body Bacteria, viruses, rickettsiae, fungi, protozoa, parasites Vs. non-pathogenic organisms Overgrowth = pathological

21 Infectious Agents Bacteria (bacterium)
Single celled organism capable of reproduction, DNA, RNA, & protein synthesis. Gram negative or gram positive in color Cocci, bacilli, or spiral in shape May be pathogenic or nonpathogenic

22 Infectious Agents Rickettsiae (rickettsia)
A genus of bacteria (Rickettsiales) Obligate intracellular parasites Arthropod vectors usually Typhus, Rocky Mtn. Spotted Fever, etc

23 Infectious Agents Protozoa Unicellular animal-like microorganisms
Phylum Protista Saprophytes often Live on dead tissue Fecal-oral route, food or water contaminated with cysts/spores, insect bite Malaria, giardia, sleeping sickness

24 Infectious Agents Virus Smallest microorganisms
A nucleic acid inside a protein shell Reproduces only after infecting host cell Classified by DNA vs. RNA Reproductive method (retrovirus) Mode of transmission (enterovirus) Etc.

25 Infectious Agents Fungi (fungus) Yeast, mold, or mushroom
Belongs to the kingdom Fungi Candidiasis, Valley Fever, aspergillosis

26 Disease Category: Trauma
Physical, chemical, radiation injury Usually physical mechanism Effects of external force applied to the body Categories: Blunt or penetrating According to body part affected Physical, chemical, radiation

27 Trauma May cause shock Shock Hypoperfusion state
Classical signs and symptoms Tachycardia Hypotension Pallor Altered mental status/consciousness

28 Head Trauma Skull fractures Cerebral contusions Concussion
Often “protective”, less force transmitted to brain Categories: open, closed, basilar Cerebral contusions Contusion of brain Concussion Alteration in function of brain without visible damage to brain

29 Head Trauma Intracranial hemorrhages Intracerebral- inoperable
Subarachnoid-nuchal rigidity Epidural-lucid period Subdural-most common ICB

30 Chest Trauma Rib fractures Pneumothorax Hemothorax
flail Pneumothorax “collapsed lung”, abnormal air collection in between the pleura Hemothorax Injury to heart, esophagus, lungs, major vessels

31 Abdominopelvic Trauma
Blunt Liver and spleen most commonly injured Penetrating Small intestine most commonly injured Major considerations: Hemorrhage and infection (spillage of GI contents and nonpathogenic bacteria)

32 Spinal Trauma Cervical spine trauma commonly associated with head trauma Typical signs and symptoms: Paresis or paralysis below injury level Loss/alteration in sensation below injury level Some autonomic (ANS) loss also

33 Extremity Trauma May be fractures, dislocations, soft tissue or skin injury May be associated with major disability May be associated with nerve or blood vessel disruption

34 Environmental Diseases
Conditions caused by the effects of various components of the environment Heat or cold Radiation Chemicals Bariatric (atmospheric pressure) Electrical injury Animals, insects, marine life Submersion or drowning

35 Environmental Diseases
Heat-related diseases Prickly heat-rash, blockage of sweat pores Heat edema Heat syncope Heat cramps Heat tetany Heat exhaustion-temp nl to 104 Heat stroke- temp over 105, altered mental status

36 Environmental Diseases
Cold-related diseases Hypothermia-temp less than 95 degrees Chilblains-damp, nonfreezing exposure Trench foot-nonfreezing, water exposure Frostbite-freezing, ice crystals in tissues Frostnip-superficial injury, no ice crystals

37 Bariatric Diseases Low Pressure High Pressure Altitude diseases
Hypoxia, pulmonary HTN, Acute Mountain Sickness, HAPE, HACE High Pressure Air embolism, nitrogen narcosis Decompression sickness Nitrogen bubbles in blood & tissues The “bends” = musculoskeletal form

38 Electrical Injuries Electric shock
May be due to natural (lightning strike) or man-made sources Major effects: Internal and external burns Cardiac dysrhythmias Local injuries/path of electrical current

39 Toxicology/Poisoning
Purposeful exposure Suicide attempts industrial exposure Accidental exposure Childhood ingestions Theraputic medication errors Occupational/industrial exposure

40 Toxicology Bimodal peaks of overdoses according to age
Toddler age group adolescence Supportive care usually the key to treatment and survival Antidotes are rare.

41 Drowning Hypoxemia caused by obstruction of airway by laryngospasm and fluid while patient is submerged. Fresh vs. salt vs. chlorinated water Often associated with hypothermia. Other complications, e.g. aspiration pneumonia Higher survival rates in children. Association with diving accidents. Spinal trauma and other injuries

42 Bites and Stings Most commonly fatal sting in US: Black Widow Spider
Hymenoptera (bee sting) Allergic etiology Black Widow Spider Local muscle cramping generalizes Abdominal findings, severe pain HTN in 10-30%, some with coma, shock, & respiratory failure

43 Bites and Stings Brown Recluse Spider
Local effects: erythema, blisters, spreading necrosis Varies with amount of envenomation

44 Asphyxiation Cessation of oxygenation Also carbon dioxide accumulation
Variable etiologies Drowning Airway obstruction Hypoventilation Toxic inhalational injuries

45 Burns Categorized by depth Percentage of TBA (total body surface area)
Rule of Nines (modified for pediatrics) Prognosis Varies with depth and TBSA involved

46 Immune-Related Diseases
Basic categories of immune diseases Immune deficiency Deficient protection against invading organisms May be iatrogenic Allergy/anaphylaxis Activation of inflammatory/histamine reactions Autoimmunity Immune system reacts against the patient as if he/she is an invading organism

47 Immune System Concepts Review
Congenital or acquired Humoral Immunoglobulins (Ig’s) Circulating proteins, rapid response Cellular T-cells, B cells & others Tissue response mostly Often delayed (takes days)

48 Immune System Review Vocabulary Phagocytosis Antibody Antigen
Macrophages anaphylaxis

49 Allergic Symptoms Skin Respiratory Life-threatening Urticaria, wheals
Erythema, pruritis Respiratory Airway edema, obstruction, stridor Wheezing, asthma, dyspnea Life-threatening Anaphylactic shock

50 Autoimmune Diseases Can affect any body system
Often affect multiple systems Often unpredictable course Exacerbating and remitting Examples: Ulcerative colitis, primary biliary cirrhosis, hemolytic anemia, ITP, Hashimoto’s thyroiditis, etc

51 Immunodeficiency Diseases
Involve impaired resistance to infection Often have recurrent or opportunistic infections Examples: AIDS, Hodgkin’s lymphoma

52 Nutritional Diseases Deficiencies of some elements of diet
Vitamins, protein, minerals, etc Excesses of some elements of diet Same as above Malnutrition Obesity

53 Malnutrition Condition in which body is not getting enough nutrients
Varies from mild to life-threatening Variety of etiologies: Improper quality & quantity of food Malabsorption, anorexia, loss of taste or smell senses, drug-food interactions Increased metabolism or need for fuel (certain disease states e.g. trauma, burns, cancers)

54 Types of Malnutrition Kwashiorkor Marasmus Starvation
Protein-calorie malnutrition, poor protein intake compared to calories, S/S: protuberant abdomen Marasmus Severe malnutrition in children, mostly calorie deficiency, first year of life, disease or parasitic infestation = usual cause Starvation Lack of all/most nutrients needed to preserve life

55 Vitamin Deficiency Scurvy = vitamin C deficiency
Fatigue, weakness, aches, gum bleeding Rickets = Vitamin D deficiency Bone pain & weakening, deformities Beriberi = thiamin (B1) deficiency Diets with polished rice Nerve & cardiac damage, lassitude, anorexia

56 Obesity Accumulation of excess fat rather than excess weight alone
BMI (body mass index) over 30 Measure of weight relative to height Over 50% adults and 20% children in US are overweight, 33% are obese 2nd leading cause of preventable death in US (tobacco is #1)

57 Other categories: Idiopathic Iatrogenic Of unknown etiology
Caused by medical treatment

58 Vitamin Deficiency Pellegra = niacin (vit B3) deficiency
Also protein deficiency (tryptophan is an essential AA) Diet often relies on corn The Four D’s Diarrhea Dermatitis Dementia death

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