1. (c) 2005 The McGraw-Hill Companies, Inc. All rights reserved. Chapter Twelve: Managing Chronic Conditions

2. Specific Disease/Illnesses Are Classified Into 5 Categories 1) Genetic/Inherited 2) Congenital 3) Metabolic 4) Degenerative 5) Autoimmune

3. Differences Between Acute vs. Chronic Conditions Acute –has a sudden onset and a prompt resolution Acute –has a sudden onset and a prompt resolution Chronic – develop slowly and persists for an extended period of time Chronic – develop slowly and persists for an extended period of time Most chronic conditions covered in this section are difficult to prevent

4. Genetic/Inherited Conditions Abnormal genes transmitted from either parent at conception Abnormal genes transmitted from either parent at conception Abnormal genetic materials formed by mutation at an early cell replication stage Abnormal genetic materials formed by mutation at an early cell replication stage Abnormal number of chromosomes (+/-46) Abnormal number of chromosomes (+/-46) Occurs by:

5. Abnormal Chronic Conditions Klinefelter’s Syndrome Klinefelter’s Syndrome Turner’s Syndrome Turner’s Syndrome

6. Klinefelter’s Syndrome 1 in 1,000 male births 1 in 1,000 male births Due to abnormal sex chromosomes being present (44xxy) = 47 chromosomes Due to abnormal sex chromosomes being present (44xxy) = 47 chromosomes Related to advanced maternal age Related to advanced maternal age Characteristics at puberty are tall, thin, gynecomastia, diminished sex characteristics Characteristics at puberty are tall, thin, gynecomastia, diminished sex characteristics Infertility, learning impairment Infertility, learning impairment No cure – hormonal treatments

7. Turner’s Syndrome 1 in 5,000 female births 1 in 5,000 female births Altered chromosome number (44XO), “O” is the absence of a secondary x chromosome Altered chromosome number (44XO), “O” is the absence of a secondary x chromosome Equivalent version of Klinefelter’s (infertility) Equivalent version of Klinefelter’s (infertility) Diminished sex characteristics Diminished sex characteristics

8. Inherited Genetic Mutations Cystic fibrosis Cystic fibrosis Sickle cell disease Sickle cell disease Duchenne Muscular Dystrophy (DMD) Duchenne Muscular Dystrophy (DMD)

9. Cystic Fibrosis 1 in 2,000 live births 1 in 2,000 live births Disruption of exocrine glands due to absence of a protein Disruption of exocrine glands due to absence of a protein Symptoms – childhood respiratory and digestion symptoms Symptoms – childhood respiratory and digestion symptoms Management – drugs and diet, but incurable Management – drugs and diet, but incurable Diagnosis – blood test (abnormal gene 7) or saliva test Diagnosis – blood test (abnormal gene 7) or saliva test Prevention – genetic testing, recessive gene Prevention – genetic testing, recessive gene

10. Sickle Cell Trait/Sickle Cell Disease 8% of African-Americans carry recessive gene for Sickle Cell Trait 8% of African-Americans carry recessive gene for Sickle Cell Trait Red blood cells cannot pass through blood capillaries (sickle shaped RBC’s) Red blood cells cannot pass through blood capillaries (sickle shaped RBC’s) Symptoms – impaired lung function, heart failure, infections, bone changes Symptoms – impaired lung function, heart failure, infections, bone changes Management – drug therapy, stem cell transplant Management – drug therapy, stem cell transplant Diagnosis – blood test Diagnosis – blood test Prevention – screening for the recessive gene Prevention – screening for the recessive gene

11. Sickle Cell Disease Figure 12-1

12. Duchenne Muscular Dystrophy Mutated maternal sex chromosome x Mutated maternal sex chromosome x Muscle fiber lacks a protein (dystrophin) for normal muscular function Muscle fiber lacks a protein (dystrophin) for normal muscular function Symptoms – deterioration of muscles eventually leading to death Symptoms – deterioration of muscles eventually leading to death Management – physical and occupational therapy Management – physical and occupational therapy Diagnosis – muscle wasting, lack of walking gait, blood test Diagnosis – muscle wasting, lack of walking gait, blood test Prevention – genetic screening Prevention – genetic screening

13. Congenital Abnormalities Present at birth Present at birth Does not involve abnormal genetic materials Does not involve abnormal genetic materials Causes – multi-factors include infections, drug use (environmental), resulting in inappropriate changes to tissues during embryonic development [3 month period] Causes – multi-factors include infections, drug use (environmental), resulting in inappropriate changes to tissues during embryonic development [3 month period]

14. Common Congenital Abnormalities 1) Talipes (club foot) – heel points inward while foot points outward (1 in 1,000 births) 2) Cleft palate/cleft lip – structures of face and lips separate (1 in 800 births) 3) Patent Foramen Ovale – (hole) foramen fails to close completely in the heart, resulting in a heart murmur 4) Scoliosis – lateral curvature of the spine (S- shaped)

15. Metabolic Disorders Inability to control chemical processes that regular anabolism/catabolism (build- up/tearing down) of tissues Inability to control chemical processes that regular anabolism/catabolism (build- up/tearing down) of tissues Types: Types: Diabetes Mellitus (type 2) Diabetes Mellitus (type 2) Diabetes Mellitus (type 1) Diabetes Mellitus (type 1) Hypoglycemia Hypoglycemia

16. Diabetes Mellitus (Type 2) Ineffective insulin production (hormone necessary for glucose regulation) from insensitivity of cells allowing increased sugar levels in the blood Ineffective insulin production (hormone necessary for glucose regulation) from insensitivity of cells allowing increased sugar levels in the blood Gradual symptoms – thirst, hyperglycemia, numbness Gradual symptoms – thirst, hyperglycemia, numbness Management – dietary modification, exercise, drug therapy Management – dietary modification, exercise, drug therapy Diagnosis – urine/blood test Diagnosis – urine/blood test

17. Diabetes Mellitus (Type 1) Pancreas produces no insulin at all Pancreas produces no insulin at all Rapid symptoms – weakness, thirst, hunger, frequent urination Rapid symptoms – weakness, thirst, hunger, frequent urination Management – insulin must be obtained by injections or pump (if not properly managed, gangrene, blindness, kidney disease can result) Management – insulin must be obtained by injections or pump (if not properly managed, gangrene, blindness, kidney disease can result) Diagnosis – urine/blood test Diagnosis – urine/blood test

18. Diabetes Mellitus (Type 1)

19. Hypoglycemia (Reactive) and (Functional) Low levels of blood sugar Low levels of blood sugar Reactive hypoglycemia – hypersensitivity to sugar due to excessive insulin products Reactive hypoglycemia – hypersensitivity to sugar due to excessive insulin products Functional hypoglycemia – vague symptoms that had mental health ties but is less frequently seen Functional hypoglycemia – vague symptoms that had mental health ties but is less frequently seen Symptoms– low energy, headaches, anxiety Symptoms– low energy, headaches, anxiety Management– small meals of complex carbohydrates Management– small meals of complex carbohydrates

20. Autoimmune/Hypersensitivity Disorders Fibromyalgia Chronic, painful neurological disorder that affects 2% of the population; can be managed and treated Asthma Chronic respiratory disease results in closing the airways, extrinsic and intrinsic causes; treatable with medication (see next slide) Crohn’s Disease Inflammatory bowel disease leading to abdominal pain and discomfort; treatable by medication Functional and structural breakdown caused by the immune system’s failure to recognize the body as “self”

21. Asthma

22. Autoimmune/Hypersensitivity Disorders (cont.) Functional and structural breakdown caused by the immune system’s failure to recognize the body as “self” Systemic Lupus Erythematosus Autoimmune disorder while the body attacks itself for no reason; affects women more than men, treated with long term non-steroidal drugs Multiple Sclerosis(MS) Progressive disease that causes the myelin to be destroyed, leading to disrupted neurological function. Treatment includes immune targeted drugs, nerve blockers, and physical therapy

23. Degenerative Diseases Parkinson’s Disease Neurological disorder (shaking palsy) due to decreased of dopamine in areas of the brain; medication can only delay progression Alzheimer’s Disease Organic brain syndrome associated with longevity; symptoms such as memory loss, confusion, and dementia are common; treatments are still relatively experimental Functional and structural breakdown of the body that generally appear later in life

24. (c) 2005 The McGraw-Hill Companies, Inc. All rights reserved. Chapter Twelve: Managing Chronic Conditions