By F. Ford. Belmont Abbey College.

The bicuspid aortic valve is the most common heart Signs and symptoms valve defect at birth 10mg toradol overnight delivery, and many people live a normal life without even being aware of this condition purchase 10 mg toradol visa. Unfortun- Many people with bicuspid aortic valve experience ately buy 10 mg toradol amex, bicuspid aortic valves are also more prone to dis- no symptoms discount 10mg toradol with amex, and may live their entire lives unaware of ease than the normal three cusped valves discount toradol 10mg overnight delivery. However, progressive damage or infection conditions such as restricted blood flow to the aorta (aor- of the valve may lead to three serious conditions: aortic tic stenosis), backflow of blood from the aorta into the stenosis, aortic regurgitation, or endocarditis. Eventually, the valve may associated symptoms during the adult years as progres- become so stiff that it does not open properly, making it sive damage is done to the bicuspid aortic valve. When this valve include aneurysm of the aorta (ballooning out of blockage becomes serious enough, people may experi- the aorta wall), and aortic dissection (a life-threatening ence shortness of breath, chest pain, or fainting spells. These symptoms usually begin between the ages of 50 154 GALE ENCYCLOPEDIA OF GENETIC DISORDERS and 60 years old. Eventually, the blockage can become so bad that blood backs up in the heart and lungs instead of KEY TERMS going out to supply the rest of the body with oxygen (congestive heart failure). Additionally, this condition Aorta—The main artery located above the heart can lead to thickening of the heart wall, which may cause which pumps oxygenated blood out into the body. Aortic regurgitation results when the valve fails to Aortic regurgitation—A condition in which the close properly. People who develop this condition may aortic valve does not close tightly, allowing blood become short of breath when exerting themselves. People with Autosomal dominant—A pattern of genetic inher- endocarditis may have symptoms of lingering fevers, itance where only one abnormal gene is needed to fatigue, weight loss, and sometimes damage to the kid- display the trait or disease. Coarctation—A narrowing of the aorta that is Other dangerous conditions associated with bicuspid often associated with bicuspid aortic valve. People with aortic aneurysms usually do not experi- Echocardiogram—A non-invasive technique, ence symptoms unless the aneurysm ruptures, but people using ultrasonic waves, used to look at the various with aortic dissection experience tearing back pain. Aortic aneurysm rupture and aortic dissection are very Electrocardiogram (ECG, EKG)—A test used to dangerous and can rapidly lead to death if not promptly measure electrical impulses coming from the heart treated. Diagnosis Endocarditis—A dangerous infection of the heart valves caused by certain bacteria. Any of the symptoms of aortic stenosis, aortic regur- gitation, or endocarditis should prompt a search for an Heart valve—One of four structures found within underlying malformation of the aortic valve. Aortic the heart that prevents backwards flow of blood stenosis or regurgitation is diagnosed by a combination into the previous chamber. The Murmur—A noise, heard with the aid of a stetho- earliest sign of aortic valve problems is a murmur (the scope, made by abnormal patterns of blood flow sound of abnormal patterns of blood flow) heard with a within the heart or blood vessels. When the valve has high levels of calcium Reduced penetrance—Failing to display a trait or deposits, a characteristic clicking sound can also be heard disease despite possessing the dominant gene that with the stethoscope just as the stiff valve attempts to determines it. Later signs include a large heart seen on x ray or by a special electrical test of the heart, called an ECG or Sporadic—Isolated or appearing occasionally with EKG (electrocardiogram). If these signs are present, it suggests that the aortic Stethoscope—An instrument used for listening to valve may be damaged. The next test to be performed is sounds within the body, such as those in the heart echocardiography, a method that uses ultrasound waves or lungs. Often, only two cusps are seen on the aortic valve during then use different tests to identify which species of bac- the echocardiography, confirming a diagnosis of bicuspid teria is present so that appropriate treatment can be aortic valve. The diagnosis of endocarditis is also confirmed Endocarditis is diagnosed by demonstrating the pres- by using echocardiography to look for bacterial growths ence of bacteria in the blood stream. During the echocardiography, a taking blood from the patient and growing the bacteria on bicuspid valve is often seen and explains the tendency to plates with specialized nutrients. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 155 This view of a human heart specimen clearly shows the structure of a bicuspid aortic valve. However, in patients with any compli- Patients with endocarditis need to be hospitalized cation of valve damage, as previously discussed, treat- and treated with high does of antibiotics given through a ment may be necessary. Damage done to the valve by the bacteria may make it necessary for a valve replacement In younger patients who have aortic stenosis, a pro- procedure to be performed after the patient has recovered cedure can be performed in which a small balloon is from the infection. The balloon is then inflated, creating a In any case, people who have been identified as hav- bigger opening for blood to pass. Alternatively, an “open ing bicuspid aortic valve should be followed regularly by heart” procedure can be performed to cut the valve into a a cardiologist, with possible consultation with a cardio- more normal configuration. The function of the bicuspid aortic temporary, and later in life the patient, as well as any valve should be followed through the use of echocardio- adult with advanced aortic stenosis, will most likely graphy, and the state of the heart itself should be followed require aortic valve replacement. Valve replacement is an “open heart” operation It should be noted that children with aortic stenosis where the original malformed valve is removed and may not be able to engage in vigorous physical activity replaced with a new valve.

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Chest pain 10mg toradol overnight delivery, orthopnea generic 10mg toradol with visa, dyspnea on exertion toradol 10 mg fast delivery, paroxysmal nocturnal dyspnea toradol 10 mg for sale, murmurs order toradol 10 mg with visa, claudication, peripheral edema, palpitations Gastrointestinal. Dysphagia, heartburn, nausea, vomiting, hematemesis, indigestion, ab- dominal pain, diarrhea, constipation, melena (hematochezia), hemorrhoids, change in stool shape and color, jaundice, fatty food intolerance Gynecologic. Gravida/para/abortions; age at menarche; last menstrual period (frequency, duration, flow); dysmenorrhea; spotting; menopause; contraception; sexual history, in- cluding history of venereal disease, frequency of intercourse, number of partners, sexual orientation and satisfaction, and dyspareunia Genitourinary. Frequency, urgency, hesitancy; dysuria; hematuria; polyuria; nocturia; incon- tinence; venereal disease; discharge; sterility; impotence; polyuria; polydipsia; change in urinary stream; and sexual history, including frequency of intercourse, number of partners, sexual orientation and satisfaction, and history of venereal disease Endocrine. Polyuria, polydipsia, polyphagia, temperature intolerance, glycosuria, hormone therapy, changes in hair or skin texture Musculoskeletal. Arthralgias, arthritis, trauma, joint swelling, redness, tenderness, limita- tions in ROM, back pain, musculoskeletal trauma, gout 1 History and Physical Examination 11 1 Peripheral Vascular. Varicose veins, intermittent claudication, history of thrombophlebitis Hematology. Syncope; seizures; weakness; coordination problems; alterations in sensa- tions, memory, mood, sleep pattern; emotional disturbances; drug and alcohol problems Physical Examination General: Mood, stage of development, race, and sex. State if patient is in any distress or is assuming an unusual position, such as, sitting up leaning forward (position often seen in patients with acute exacerbation of COPD or pericarditis) Vital Signs: Temperature (note if oral, rectal, axillary), pulse, respirations, blood pressure (may include right arm, left arm, lying, sitting, standing), height, weight. Blood pres- sure and heart rate supine and after standing 1 min should always be included if volume depletion is suspected, such as in GI bleeding, diarrhea, dizziness, or syncope. Skin: Rashes, eruptions, scars, tattoos, moles, hair pattern (See page 20 for definitions of dermatologic lesions. Conjunctiva; sclera; lids; position of eyes in orbits; pupil size, shape, reactivity; ex- traocular muscle movements; visual acuity (eg, 20/20); visual fields; fundi (disc color, size, margins, cupping, spontaneous venous pulsations, hemorrhages, exudates, A-V ratio, nicking) Ears. Test hearing, tenderness, discharge, external canal, tympanic membrane (intact, dull or shiny, bulging, motility, fluid or blood, injected) Nose. Symmetry; palpate over frontal, maxillary, and ethmoid sinuses; inspect for obstruc- tion, lesions, exudate, inflammation. Lips, teeth, gums, tongue, pharynx (lesions, erythema, exudate, tonsillar size, pres- ence of crypts) Neck: ROM, tenderness, JVD, lymph nodes, thyroid examination, location of larynx, carotid bruits, HJR. JVD should be reported in relationship to the number of centime- ters above or below the sternal angle, such as “1 cm above the sternal angle,” rather than “no JVD. If indicated: vocal fremitus, whispered pectoriloquy, egophony (found with con- solidation) Heart: Rate, inspection, and palpation of precordium for point of maximal impulse and thrill; auscultation at the apex, LLSB, and right and left second intercostal spaces with diaphragm and apex and LLSB with bell. There are 12 cranial nerves, the functions of which are as follows: • I Olfactory—Smell • II Optic—Vision, visual fields, and fundi; afferent limb of pupillary response • III, IV, VI Oculomotor, trochlear, abducens—Efferent limb pupillary response, pto- sis, volitional eye movements, pursuit eye movements • V Trigeminal—Corneal reflex (afferent), facial sensation, masseter and temporalis muscle tested by biting down • VII Facial—Raise eyebrows, close eyes tight, show teeth, smile, or whistle, corneal reflex (efferent) • VIII Acoustic—Test hearing by watch tick, finger rub, Weber–Rinne test (see also page 27) to be done if hearing loss noted on history or by gross testing. Pain (sharp) or temperature distal and proximal upper and lower extremities, vibra- tion using either a 128- or 256-Hz tuning fork or position sense distally upper and lower extremities, and stereognosis or graphesthesia. Identify any deficit using the dermatome and cutaneous innervation diagrams (see Figure 1–3). Brachioradialis and biceps C5–6, triceps C7–8, abdominal (upper T8–10, lower T10–12), quadriceps (knee) L3–4–5, ankle S1–2, (Grading system: 4+ Hyperactive with clonus; 3+ brisker than usual; 2+ normal or average; 1+ decreased or less than normal; 0 absent). Assessment (Impression) A discussion and evaluation of the current problems with a differential diagnosis. Note: The history and physical examination should be legibly signed and your title noted. PSYCHIATRIC HISTORY AND PHYSICAL The elements of the psychiatric history and physical are identical to those of the basic his- tory and physical outlined earlier. The main difference involves attention to the past psychi- atric history and more detailed mental status examination as described in the following section. Psychiatric Mental Status Examination The following factors are evaluated as part of the psychiatric status examination. The mini mental status exam is a sim- ple, practical test that takes only a few minutes and can be followed over time. The mini mental status exam developed by Folstein, Folstein, and McHugh is discussed in detail in the Journal of Psychiatric Research, 1975, Vol. Table 1–1 is the “Mini Mental State” Examination as outlined by Folstein and associates. HEART MURMURS AND EXTRA HEART SOUNDS Table 1–2 and Figure 1–1 describe the various types of heart murmurs and extra heart sounds.

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Because spe- cial imaging has shown it is common and late avascular necrosis of the humeral head following minimal displacements is rare discount 10 mg toradol otc, it seems unlikely that this fragment per se is the important cause of avascular necrosis of the humeral head order toradol 10 mg fast delivery, even though the ascending branch of the anterior cir- cumflex humeral artery enters the bone in this area discount toradol 10mg with mastercard. Two-part articular segment displacement (anatomic neck) Isolated displacement of the articular segment at the anatomic beck lev- el buy toradol 10mg overnight delivery, without displacement of the tuberosities 10 mg toradol mastercard, is rare. The undisplaced tu- berosities prevent the articular surface from being displaced in valgus (laterally). The displacement of the head can easily be overlooked with- out supplemental roentgen studies. No surgeon has had a great deal of experience with this fracture, but there appears to be a high incidence of avascular necrosis of the head. Because the tuberosities are in good position, it is logical to treat a new injury either by open reduction and internal fixation or by accepting the position, hoping for a comfortable malunion, and if this fails, using a prosthesis. The tuberosities being undisplaced facilitate late prosthetic replacement of the head. Two-part shaft displacement (surgical neck) Two-part shaft displacement fractures occur in patients of all ages (from before closure of the epiphyses to the very old). There may be hairline, undisplaced fissure frac- tures proximally in the tuberosities, but they and the articular segment are held in neutral rotation by the rotator cuff muscles. For the impacted type, there is more than 458 angulation and the apex is usually anterior. Supplemental roentgen views rotating around the humerus can be helpful in determining the amount of angulation. Closed disim- paction with fluoroscopic control is considered for active patients. For the unimpacted type, the pectoralis major acts to dis- place the shaft anteromedially and the head tends to remain in neutral 128 11 Classifications of proximal humeral fractures rotation. Closed reduction may follow one of three courses: (1) adequate and stable reduction, (2) adequate but unstable reduction requiring a percutaneous pin, or (3) unsuccessful result, requiring an open reduc- tion because of interposition. For the comminuted type, fragmentation of the upper shaft is present and the pectoralis major may retract a large fragment; however, because the head and tuberosities are held in neutral rotation by the rotator cuff, adequate alignment can usually be obtained with a light plastic spica applied with the patient sitting with the arm in neu- tral rotation, slight forward flexion, near the side. If this is successful, it may be preferable to attempting internal fixation; however, when cir- cumstances permit, experienced surgeons may prefer open reduction and internal fixation or, there is minimal comminution, percutaneous pinning. Two-part greater tuberosity displacement Two-part greater tuberosity displacement is usually seen with an ante- rior dislocation that has reduced after relocation of the head. The seg- ment is usually fragmented and one or all of its three facets for the ro- tator cuff and covering a portion of the articular surface. It is difficult to measure radiographically the exact amount of displacement present. Superior displacement is measured on the anteriorposterior view and posterior displacement on the axillary view. The defect in the head and the amount of coverage of the articular surface are measured, and the prominence of the greater tuberosity fragment is considered. If the greater tuberosity covers a part of the articular surface of the head, open reduction and cuff re- pair through a deltoid-splitting approach is preferred. Large greater tu- berosity fracture fragments may be best treated by the deltopectoral approach rather than a deltoid-splitting approach. Two-part lesser tuberosity displacement Two-part lesser tuberosity displacement fractures are usually produced by muscle contraction as in seizures. Three-part displacements In all 3-part displacements, one tuberosity remains attached to the head to rotate it and allow it some blood supply. An unimpacted, displaced surgical neck component is always present to allow the rotation to oc- cur. The Velpeau axillary view and CT scans can be helpful in showing the articular surface involvement. Open reduction and inter- nal fixation through a deltopectoral approach is usually preferred. In 3- part greater tuberosity displacements, a prosthesis may be preferred when the soft-tissue attachments to the head are found at surgery to be frail or the patient is elderly.

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