Syndromes, Conditions and Diseases List for Clinical Anatomy Quiz # 1

Syndromes, Conditions and Diseases List for Clinical Anatomy Quiz # 1 (Use your text and A and P Clinical Applications manual for reference) 1.Osteoporosis (a bone disorder) With aging , bone mass declines , potentially progressing through osteopenia to osteoporosis . Reductions in bone mass and density are sufficient to compromise normal function. During development, bone deposition ( forming new bone material ) occurs faster than bone reabsorption and that’s how we grow . At maturity, bone deposition and reabsorption are in balance. As we age, rate of deposition declines and the bones become less dense . Gradual weakening called osteopenia begins at age 30-40 and may progress to osteoporosis. Bone mass density is the measurement of the minerals in your bone tissue NORMAL CALCIUM LEVELS IN THE BLOOD: ADULTS (8.5-10.5MG/DL) & CHILDREN 8.5-11.5MG/DL) Things that affect bone mass density: • WB physical activity • Proper nutrition providing Vit D or Vit D and dietary Calcium- INADEQUATE CALCIUM INTAKE IN TEENAGETS REDUCES PEAK BONE DENSIRY AND INCREASES RISK OF OSTEOPOROSIS • Sex hormone levels (men have higher peak bone mass) • Decrease in Estrogen in women makes them more prone UP TO 20% OF OLDER PERSONS WHO SUFFER A HIP FX DIE WITHIN A YEAR OF INJURY. Things that slow osteoporosis: • Supplemental estrogens • Dietary changes to elevate Calcium levels in blood • Exercise that stresses bones : Running and/or jogging, tennis, stair climbing workout, hiking and stimulate osteoblast activity • Administration of Calcitonin by nasal spray • Fosamax: bisphosphonate classified drug that inhibits osteoclast activity and can reduce risk of spine and hip fractures and improve bone density 2.Skin Cancers: a condition that causes abnormal growth of skin cells , is often caused by exposure to UV radiation , primarily sunlight. Different types of skin cancer: Basal cell carcinoma: Most common & slowest growing

Originates in the stratum basale Least dangerous Almost never metastasize , but should be treated quickly Squamous cell carcinoma: Second most common Is an uncontrolled growth of abnormal squamous cells in the epidermis Can metastasize to tissues, bones, and nearby lymph nodes Early treatment is usually effective They often cause local disfigurement (having one's appearance deeply and persistently harmed medically, such as from a disease, birth defect, or wound) Malignant melanoma: develops in the melanocytes in the basal later. These cancerous melanocytes multiply rapidly and metastasize to distant sites. MOST DEADLY - cause the most deaths Melanocytes of preexisting mole WHAT TO LOOK FOR? ABCD- abnormal characteristics Asymmetry: half of the mole does not match the other half Border: when the border (edges) of the mole are ragged of irregular Color: when the color of the mole varies throughout Diameter: if the moles diameter is larger than a pencils eraser 3. Hip Dysplasia (DDH) developmental dysplasia of the hip Formerly known as congenital dislocation of the hip , refers to the dysplastic (malformed) growth of the acetabulum. If/when the femoral head is not seated well in the acetabulum , the socket becomes shallow and malformed

Any subtle degree of developmental dysplasia of the hip can cause early arthritis with disability Factors that contribute to hip dysplasia : • Genetics • Females (hormones) • Firstborn children (tighter uterus and birth canal) • Breech position HIP JOINT SCREENING EXAMS ARE DONE ON NEWBORNS TO ASSESS THE STABILITY OF THE FEMORAL HEAD IN THE DEVELOPING SOCKET TREATMENT(?)/PREVENTION- FROG LEG POSTION A harness that is designed to maintain the legs in a ‘frog leg’ position. This ensures that the ‘ball’ part of the hip joint is held deeply into the ‘cup’ part, encouraging growth in the correct areas. The Pavlik Harness has been used to effectively treat hip dysplasia in children for many years.

4. Spina Bifida: congenital neural tube defect that results when the developing vertebral laminae fail to unite due to abnormal neural tube formation at that site. Commonly associated with developmental abnormalities of the brain, spine and spinal cord. Vertebral arches form around the developing spinal cord known as the neural tube. If this tube fails to form completely the fetal spinal column does not close properly. Spinal cord development may be incomplete= paralysis of legs Due to lack of folic acid consumption during pregnancy, increased intake of folic acid will decrease chances of spina bifida 3 types: 1) Spina Bifida Occulta • Develops a small separation or gap in one or more of the bones of spine’s vertebrae • Mildest form • Nerves typically remain unaffected • Isn’t symptomatic • Sometimes has small collection of fat or an abnormal tuft of hair present on newborns skin just above the spina bifida occulta location 2) Meningocele • The protective membranes around the spinal cord (meninges) push out through the opening in the vertebrae • Rare form of the condition • Spinal cord still develops normally • Can be surgically addressed with minor or no damage to the nerve pathways. 3) Myelomeningocele - Valeria’s type • I nfant’s spinal canal remains open along several vertebrae in the lower or middle back. This leads to the formation of a sac on the child’s back at birth. Sometimes

skin covers the sac, but in other cases tissues and nerves are exposed, greatly increasing the risk of infection. • Most severe form of spina bifida • Can also lead to paralysis, muscle weakness, bladder problems or scoliosis. 5. Fibromyalgia (-algia, pain): disorder categorized by widespread, chronic (3+ months) musculoskeletal pain usually accompanied by fatigue and disturbances in sleep, memory, and mood S/S THAT ACCOMPANY FIBROMYALGIA: • Anxiety • Depression • Tension headaches • Temporomandibular joint disorders • IBS “Fibro - fog” (or brain fog) – term used to describe the cognitive difficulties that may also accompany this disorder . May affect memory and clear thinking . Factors that contribute to fibromyalgia: • Affects women more frequently than men • Environmental factors • Physical/emotional stress • Genes 6. Delayed Onset of Muscle Soreness (DOMS): type of soreness that is different from the acute soreness that develops during activity . Pain usually begins within hours of the activity and peaks 24-72 hrs. after . Disappears within 5-7 days (1 week) Factors that contribute to DOMS: • Unaccustomed loads on muscles • Activities involving eccentric (lengthening) contractions, such as walking or running downhill can cause DOMS • Ex: going to the gym , you feel sore days later. • Rupture at the Z line of sacromeres within muscle fibers • Micro trauma to the sarcoplastic reticulum causes calcium accumulation, which may activate enzymes that break down sarcomeres During DOMS: levels of creatinine phosphokinase (CPK) and myoglobin are elevated in the blood, indicating damage to muscle sarcolemmae S/S THAT ACCOMPANY DOMS: • Reduction in joint ROM

• Muscle tenderness to touch/pressure • Muscle swelling • Reversible loss of muscle power 7. Rigor Mortis (rigor, stiffness, + mortis, death) Begins within a few hours after death (depending on temp. temp determines how fast this happens) and peaks at 12 hours . Muscles lock in the contracted position • Circulation ceases and the skeletal muscles are deprived of oxygen and nutrients • Skeletal muscle fibers run out of ATP and the sarcoplasmic reticulum becomes unable to move calcium ions from the sarcoplasm • Calcium ions trigger a contraction • Muscles lock Usually begins in face and head, progresses caudally (toward the bottom) * think of how facial (mouth) is the first thing that locks in place when patients die* Rigidity (contraction) lasts until enzymes break down the filaments, typically 48-60 hrs. after death 8. Ankylosing Spondylitis An inflammatory arthritis that affects the joints of the AXIAL SKELETON and causes gradual fusing of the vertebrae Men more affected than women *. AUTOIMMUNE DISEASE Disease can cause complete fusion of sacroiliac joints and all the zygapophysial joints as well as the pubic symphysis, or intervertebral joints between vertebral bodies

9. Herniated Disk Condition in which the annulus fibrosus can rupture, causing the nucleus pulposus to ooze into the vertebral canal or intervertebral foramen. Protruding/oozing nucleus can compress the spinal nerves This compression causes severe pain Herniated discs occur mostly in areas of greater stress and where there is greatest spinal motion Takes place: • Between C5-C6 & between C6-C7 in cervical spine • Between L4-L5 & L5-S1 in the lumbar spine SCIATIC PAIN: pain in the lower back and hip radiating down to the posterior thigh into the leg , results when a herniated lumbar disc compresses the sciatic nerve roots

10. Arthritis (All types-typical) Arthritis includes ALL rheumatic diseases that affect synovial joints Rheumatism : general term that indicates stiffness affecting the skeletal system, the muscular system or both. Arthritis: Always involves damage to the articular cartilages , but cause varies Can result from bacterial or viral infection, injury to joint, metabolic problems or autoimmune diseases Synovial function requires healthy cartilage. If damaged, matrix will break down ; exposed hyaline cartilage changes from slick, smooth and gliding surface to a rough feltwork of bristly collagen fibers. This drastically increases friction , damaging the cartilage further and causing pain . Eventually all cartilage will disappear and expose the underlying bone . ARTHRITIS CAN EITHER BE DEGENERATIVE OR INFLAMMATORY OSTEOARTHRITIS (also known as degenerative arthritis or DJD, degenerative joint disease ) Affects older individuals - over half of the people >65yrs old show signs of this disease Results from cumulative ‘wear and tear’ on the joints surfaces- CARTILAGE LOSS Affects weight bearing joints including: • Knees • Hips • Lower back • Neck • Distal finger joints RHEUMATOID ARTHRITIS – a serious inflammatory condition that affects over 2 million people in the US. INFLAMED SYNOVIUM AUTOIMMUNE DISEASE IN WHICH ONES OWN IMMUNE SYSTEM ATTACKS THE SYNOVIAL MEMBRANE OF JOINTS * Joints become swollen and inflamed ( synovitis ) and cartilaginous matrix begins to break down . enzymes are released and accelerated matrix destruction . General anti-inflammatory pain meds- help w pain DMARDS (disease modifying antirheumatic drugs) - are also used to stop or slow joint damage 75% of people affected are women Cause is uncertain : genetic and environmental factors considered

Surgical procedures can realign or redesign the affected joint . Prosthetic artificial joints can be used in extreme cases. EX: hip, knee, elbow, shoulder replacement. Prosthetic (artificial joints) are weaker than natural ones, but older people seldom stress them to their limits. 11. Achondroplasia – disorder of bone growth that results from abnormal epiphyseal activit y. Childs epiphyseal cartilage grows usually slowly and are replaced by bone early in life . As a result, the person develops short, stocky limbs, size and sexual and mental development are unaffected. Results from abnormal gene on chromosome 4 that affects fibroblast growth factor . Cases result from spontaneous mutation If both parents have disease, 25% of their children will be unaffected, 50% will have the condition and 25% will inherit 2 abnormal genes leading to severe abnormalities and death.

12. Marfan Syndrome Genetic disorder that affects connectivity tissue structure Individuals with this syndrome are very tall and have long slender limbs due to excessive cartilage formation at the epiphyseal cartilages. Abnormal gene on chromosome 15 affects protein fibrillin and is responsible for syndrome Has associated weakness in blood vessel walls that are dangerous

13. Rickets A form of osteomalacia that affects children, results due to VITD3 deficiency due to low inadequate skin exposure to sunlight or inadequate dietary supply of vitamin POOR BONE MINERALIZATION causes bones in children to bend laterally, producing a ‘bowlegged’ appearance

14. Osteomalacia( also called adult rickets ) Characterized by a gradual softening and bending of the bones because of poor mineralization Bones look normal (size of skeletal elements does not change) but are weak and flexible because bone matrix cannot accumulate enough calcium salts 15. Seborrheic Dermatitis An inflammatory condition of abnormally active sebaceous glands , usually involving the scalp, eyebrows, or beard Affected area becomes red with epidermal scaling In adults , its known as ‘ dandruff ’ In children , its known as ‘ cradle cap ’