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The coding of the diagnosis The diagnosis of a fracture is obtained by combining its anatomic loca- tion with its morphologic characteristic 150mg clindamycin with amex. An alpha-numeric coding system was chosen to express the diagnosis in order to facilitate computer storage and retrieval order clindamycin 150 mg mastercard. These are followed by a let- ter and two numbers which express the morphological characteristics of the fracture (Fig order 150 mg clindamycin overnight delivery. Starting from this basis discount clindamycin 150 mg with visa, the authors deter- mined that the first logical step was to try to categorize the sequelae of fractures of the proximal humerus. A study of the natural history of the different fractures and how they developed into their sequelae allowed them to understand the lesions that clinically presented later. By studying the initial radiographs and those at later stages, and by reviewing the op- eratives notes, the authors were able to distinguish 4 basic pathologic types of lesions that, when present, dominated the clinical picture and al- lowed the fracture sequelae to be grouped as follows (Fig. Surgical classification of sequelae of proximal humeral fracture: four types of sequelae Type 1: humeral head collapse or necrosis with minimal tuberosity malu- nion. The initial fractures in this group were dominated by 3- and 4- part fractures impacted either in valgus or in varus, leading to slight malunion of the tuberosities. Nonunions of the surgical neck followed either nonoperative 3-part fractures, with rotation of the hu- meral head fragment and significant displacement of the greater tuber- osity, or 2- and 4-part fractures that had undergone primary surgery. The initial fracture was a displaced or dislocated 4-part fracture with disimpaction of the head. The angulation of the fracture were graded as n None n Mild: more than 0 to 158 angulation n Moderate:16to308 of angulation n Severe: more than 308 of angulation The displacement of the fracture were graded as n None n Mild displacement of less than one-third of diameter of the shaft n Moderate displacement of one to two-thirds of the diameter of the shaft n Severe displacement of more than two-thirds of the diameter of the shaft 12 Classifications of scapular fractures 12. This classification is to be geared to anatomical structures and represents an ascending order of the injury severity. With concomitant clavicular fracture the coracoclavicular and coracoacromial ligaments remain intact. Site of fracture: n Anatomical neck n Surgical neck n Surgical neck+glenoid cavity Degree of displacement (mm): n <5 n 5±9 n 10±19 n >20 a 12. Chip fragment frac- tures, often seen in shoulder dislocations, are included in this classifica- tion as fracture type 1, with subdivision into two types, depending on whether the size of the fragment is less or equal (type 1 A) or larger (type 1B) than 5 mm when measured directly on the film. Type 1A with a fracture frag- ment of 5 mm or less, and type 1B with a fracture fragment larger than 5 mm. This classification scheme outlines the various mechanisms of injury and fracture patterns that can occur. For the purpose of this discussion, one need consider only whether the glenoid rim or the glenoid fossa is fractured. Fractures of the glenoid rim occur when a laterally applied high energy force drives the humeral head against the glenoid margin. Fracture of the glenoid fossa occurs when a laterally applied high-en- ergy force drives the humeral head directly into the glenoid cavity. The fracture generally begins as a transverse disruption, which then propa- gates in one of several possible directions depending on the vector of the traumatic force. This classification scheme is based on whether these injuries are minimally or significantly displaced. If significant displacement exists, it may be in either the translational or the rotatory plane. Fractures of the glenoid neck may be caused by a direct blow over the anterior or posterior aspect of the shoulder, a fall on an outstretched arm, or a fall on the superior aspect of the shoulder. Displacement may occur if the fracture is complete, with the fracture line exiting through both the lateral and superior scapular margins. If the superior support structures (the clavicle-AC-joint-acromion strut or the coracoid process- coracoclavicular ligaments linkage) are disrupted, displacement is espe- cially likely. The ring is composed of the glenoid process, the coracoid process, the cora- coclavicular ligaments, the distal clavicle, the AC joint, and the acromial process. The complex as a whole maintains a normal stable relationship between the scapula and upper extremity and the axial skeleton, allows limited motion to occur through the AC joint and the coracoclavicular ligaments, and provides a firm point of attachment for several soft-tissue structures. They tend to be minor injuries, however, since such single disruptions usually do not significantly compromise the overall integrity of the complex.

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Test for MyG: 2 mg IV in 1 min; if tolerated discount 150mg clindamycin amex, give 8 mg IV; a positive test is a brief increase in strength purchase 150mg clindamycin. If no reaction occurs generic clindamycin 150mg fast delivery, give the remainder of the dose in 1-mg increments to max of 10 mg SUPPLIED: Inj 10 mg/mL NOTES: Can cause severe cholinergic effects; keep atropine available Efavirenz (Sustiva) COMMON USES: HIV infections ACTIONS: Antiretroviral agent generic 150mg clindamycin visa, nonnucleoside reverse transcriptase inhibitor DOSAGE: Adults. Refer to product information for dosing chart SUPPLIED: Caps 50, 100, 200 mg NOTES: Take hs, may cause somnolence, vivid dreams, dizziness; may cause rash Enalapril (Vasotec) COMMON USES: HTN, CHF, and asymptomatic LVD ACTIONS: ACE inhibitor DOSAGE: Adults. In acute cardiac settings, can be given via endotracheal tube if central line not available Epoetin Alfa [Erythropoietin] (Epogen, Procrit) COMMON USES: Anemia associated with CRF, zidovudine treatment in HIV-infected patients, and patients receiving cancer chemotherapy; reduction in transfusions associated with surgery ACTIONS: Erythropoietin supplementation DOSAGE: Adults & Peds. Surgery: 300 U/kg/d for 10 d prior to surgery SUPPLIED: Inj 2000, 3000, 4000, 10,000, 20,000 U/mL NOTES: May cause HTN, headache, tachycardia, nausea, and vomiting; store in refrigerator Epoprostenol (Flolan) COMMON USES: Pulmonary HTN ACTIONS: Dilates the pulmonary and systemic arterial vascular beds; inhibits platelet aggregation DOSAGE: 4 ng/kg/min IV cont inf; make dosage adjustments based on clinical status and package insert guidelines SUPPLIED: Inj 0. Initiate treatment with 500 µg/kg load over 1 min, then 50 µg/kg/min for 4 min; if inadequate response, repeat the loading dose and follow with maintenance infusion of 100 µg/kg/min for 4 min; continue the titration process by repeating the loading dose followed by in- cremental ↑ in the maintenance dose of 50 µg/kg/min for 4 min until the desired heart rate is reached or BP decreases ; average dose 100 µg/kg/min SUPPLIED: Inj 10, 250 mg/mL NOTES: Monitor closely for hypotension; ↓ or discontinuing infusion reverses hypotension in ≅30 min Estazolam (Prosom) [C] COMMON USES: Insomnia ACTIONS: Benzodiazepine DOSAGE: 1–2 mg PO hs PRN 22 SUPPLIED: Tabs 1, 2 mg 22 Commonly Used Medications 535 Esterified Estrogens (Estratab, Menest) COMMON USES: Vasomotor symptoms, atrophic vaginitis, or kraurosis vulvae associated with menopause; female hypogonadism ACTIONS: Estrogen supplementation DOSAGE: Menopause: 0. Repeated doses NOT recommended SUPPLIED: Tabs 25, 50 mg; powder for inj 50 mg NOTES: Contra in anuria; severe side effects reported Ethambutol (Myambutol) COMMON USES: Pulmonary TB and other mycobacterial infections ACTIONS: Inhibits cellular metabolism DOSAGE: Adults & Peds >12 y. Simplex: 125–250 mg PO bid SUPPLIED: Tabs 125, 250, 500 mg Famotidine (Pepcid) COMMON USES: Short-term Rx of active duodenal ulcer and benign gastric ulcer; maintenance therapy for duodenal ulcer, hypersecretory conditions, GERD, and heartburn ACTIONS: H2-antagonist; inhibits gastric acid secretion DOSAGE: Adults. Dose calculated from the narcotic requirements for the previous 24 h SUPPLIED: TD patches deliver 25, 50, 75, 100 µg/h NOTES: 0. Pain: 200 µg consumed over 15 min, titrate to appropriate effect SUPPLIED: Lozenges 100, 200, 300, 400 µg; lozenges on stick 200, 400, 600, 800, 1200, 1600 µg Ferric Gluconate Complex (Ferrlecit) COMMON USES: Iron deficiency in patients receiving supplemental erythropoietin therapy ACTIONS: Supplemental iron DOSAGE: Give test dose of 2 mL (25 mg Fe) infused over 1 h. Discontinue therapy when ANC >10,000 Finasteride (Proscar, Propecia) COMMON USES: BPH and androgenetic alopecia ACTIONS: Inhibits 5α reductase DOSAGE: BPH: 5 mg/d PO [Proscar]. Alopecia: 1 mg/d PO [Propecia] SUPPLIED: Tabs 1, 5 mg NOTES: Decreases PSA levels; may take 3–6 mo to see effect on urinary symptoms Flavoxate (Urispas) COMMON USES: Symptomatic relief of dysuria, urgency, nocturia, suprapubic pain, urinary fre- quency, and incontinence ACTIONS: Counteracts smooth muscle spasm of the urinary tract DOSAGE: 100–200 mg PO tid–qid SUPPLIED: Tabs 100 mg NOTES: May cause drowsiness, blurred vision, and dry mouth Flecainide (Tambocor) COMMON USES: Prevention of PAF/flutter and PSVT, Rx life-threatening ventricular arrhythmias ACTIONS: Class 1C antiarrhythmic DOSAGE: Adults. Myelosuppression (leukocytopenia, thrombocytopenia, and anemia); rash, dry skin, and photosensitivity frequent. Tingling in the hands and feet followed by pain (palmar-plantar 22 erythrodysesthesia); phlebitis and discoloration at inj sites 22 Commonly Used Medications 541 Fluorouracil, Topical [5-FU] (Efudex) COMMON USES: Basal cell carcinoma of the skin, actinic and solar keratosis ACTIONS: Inhibitor of thymidylate synthetase (interferes with DNA synthesis, S phase-specific) DOSAGE: Apply 5% cream bid for 4–6 wk SUPPLIED: Cream 1, 5%; soln 1, 2, 5% NOTES: Toxicity symptoms: Rash, dry skin, and photosensitivity Fluoxetine (Prozac, Sarafem) COMMON USES: Depression, OCD, bulimia, PMDD ACTIONS: SSRI DOSAGE: Initially, 20 mg/d PO; ↑to a max of 80 mg/24h; ÷ doses of >20 mg/d. PMDD: 20 mg/d SUPPLIED: Caps 10, 20 mg; tabs 10 mg; soln 20 mg/5 mL NOTES: May cause nausea, nervousness, and weight loss; hepatic failure dosage adjustment Fluoxymesterone (Halotestin) COMMON USES: Androgen-responsive metastatic breast cancer ACTIONS: Inhibition of secretion of LH and FSH by feedback inhibition DOSAGE: 10–40 mg/d SUPPLIED: Tabs 2, 5, 10 mg NOTES: Toxicity symptoms: Virilization, amenorrhea and menstrual irregularities, hirsutism, alope- cia and acne, nausea, and cholestasis. Hematologic toxicity symptoms: Suppression of clotting fac- tors II, V, VII, and X and polycythemia. Nasal: 1–2 sprays/nostril/d SUPPLIED: Nasal spray 50 µg/actuation Fluticasone Oral (Flovent, Flovent Rotadisk) COMMON USES: Chronic treatment of asthma ACTIONS: Topical steroid DOSAGE: Adults & adolescents. Maintenance: 90–120 mg/kg/d IV (Monday–Friday) SUPPLIED: Inj 24 mg/mL NOTES: Dosage must be adjusted for renal function; nephrotoxic; monitor ionized calcium closely (causes electrolyte abnormalities); administer through a central line Fosfomycin (Monurol) COMMON USES: Uncomplicated UTI 22 ACTIONS: Inhibits bacterial cell wall synthesis 22 Commonly Used Medications 543 DOSAGE: 3 g PO dissolved in 90–120 mL of water as single dose SUPPLIED: Granule packets 3 g NOTES: May take 2–3 d for symptoms to improve Fosinopril (Monopril) COMMON USES: HTN and heart failure ACTIONS: ACE inhibitor DOSAGE: Initially, 10 mg/d PO; may be ↑ to a max of 80 mg/d PO ÷ qd–bid SUPPLIED: Tabs 10, 20, 40 mg NOTES: ↓ Dose in elderly; may cause nonproductive cough and dizziness Fosphenytoin (Cerebyx) COMMON USES: Status epilepticus ACTION: Inhibits seizure spread in the motor cortex DOSAGE: Dosed as phenytoin equivalents (PE) Loading 15–20 mg PE/kg, maintenance 4–6 mg PE/kg/d SUPPLIED: Inj; 150 mg (= phenytoin 100 mg); 750 mg (= phenytoin 500 mg) NOTES: Requires 15 min to convert the prodrug fosphenytoin to phenytoin; administer at <150 mg PE/min to prevent hypotension; administer with BP monitoring; dosage adjustment/plasma moni- toring may be necessary in hepatic impairment Furosemide (Lasix) Used for emergency cardiac care (see Chapter 21) COMMON USES: Edema, HTN, and CHF ACTIONS: Loop diuretic; inhibits Na and Cl reabsorption in the ascending loop of Henle and the distal renal tubule DOSAGE: Adults. IV: 5 mg/kg IV q12h for 14–21 d, then maintenance of 5 mg/kg/d IV for 7 d/wk or 6 mg/kg/d IV for 5 d/wk. Prevention: 1000 mg PO tid SUPPLIED: Caps 250, 500 mg; inj 500 mg; ocular implant 4. Daily dosing becoming popular Gentamicin, Ophthalmic (Garamycin, Genoptic, Gentacidin, others) COMMON USES: Conjunctival infections ACTIONS: Bactericidal; inhibits protein synthesis DOSAGE: Oint apply bid or tid; soln: 1–2 gtt q2–4h, up to 2 gtt/h for severe infections 22 SUPPLIED: Soln and oint 0. Stimulates the release of insulin from the pancreas; increases insulin sensi- tivity at peripheral sites; reduces glucose output from the liver DOSAGE: 1–4 mg/d, up to max of 8 mg SUPPLIED: Tabs 1, 2, 4 mg Glipizide (Glucotrol) COMMON USES: Type 2 DM ACTION: Sulfonylurea. Stimulates the release of insulin from the pancreas; increases insulin sensi- tivity at peripheral sites; reduces glucose output from the liver DOSAGE: 5–15 mg qd–bid SUPPLIED: Tabs 5, 10 mg; ER tabs 5, 10 mg Glucagon Emergency care (see Chapter 21) COMMON USES: Severe hypoglycemic reactions in diabetic patients with sufficient liver glycogen stores or β-blocker overdose ACTIONS: Accelerates liver gluconeogenesis DOSAGE: Adults. Stimulates the release of insulin from the pancreas; increases insulin sensi- tivity at peripheral sites; reduces glucose output from the liver DOSAGE: Nonmicronized: 1. Initially, 4 mg PO bid; ↑ by 4 mg/d increments at 1–2-wk intervals up to 32 mg bid. Severe symptoms or agitation: 3–5 mg PO bid–tid or 1–5 mg IM q4h PRN (max 100 mg/d). Thrombosis Rx: Loading dose of 50–75 U/kg IV, then 10–20 U/kg IV qh (adjust based on PTT).

Haloperidol discount clindamycin 150 mg, Pimozide generic 150mg clindamycin overnight delivery, Sulpiride cheap clindamycin 150 mg visa, and Tiapride proven 150mg clindamycin, which Bethesda, MD: Woodbine decrease the amount of dopamine in the body. Unfortunately, the incidence of side effects, even at low Leckman, James, and Donald Cohen. The short-term side effects can include sedation, dysphoria, weight gain, movement New York: John Wiley & abnormalities, depression, and poor school performance. Long-term side effects can include phobias, memory dif- ficulties, and personality changes. These drugs are there- fore better candidates for short-term rather than Alsobrook, J. Stimulants should be used with caution in indi- Response in Tourette Syndrome: Implications and viduals with Tourette syndrome since they can some- Inferences. I Mosaic trisomy 18 Partial trisomy 18 Prenatal anomalies Tuberous sclerosis complex Definition Description gene mutation Tourette syndrome genetic testing Demographics Genetic profile gene Signs and symptoms 1150 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Turcot syndrome U Urea cycle disorders KEY TERMS Definition Enzyme Urea cycle Description Genetic profile GALE ENCYCLOPEDIA OF GENETIC DISORDERS 1159 Genetic profile inheritance gene Demographics Signs and symptoms GALE ENCYCLOPEDIA OF GENETIC DISORDERS 1163 —A pattern of genetic inher- itance where only one abnormal gene is needed to display the trait or disease. They are now referred to as, rather In 1904, a German ophthalmologist named Eugen von than angiomas. Hippel noted that these retinal angiomas seemed to run in There are four distinct types of VHL, based on the families. Type 1 is characterized by Swedish pathologist, reported a connection between these all VHL-related tumors except those in the adrenal gland. Like angiomas, hemangioblastomas divided into type 2A (without kidney tumors or cysts in are vascular tumors as well. After Lindau noted this asso- the pancreas), type 2B (with kidney tumors and cysts in ciation, there were many more reports describing families the pancreas), and type 2C (adrenal gland tumors only). These findings included cysts and/or tumors in the VHL is inherited in an autosomal dominant manner. This means that an affected person has a 50% chance of In 1964, Melmon and Rosen wrote a review of the current passing the disease on to each of his or her children. More recently, the tumors in the will show signs of the disorder, usually by the age retina were determined to be identical to those in the CNS. If the child begins to lose developmental milestones or appears to stop developing, metabolic test- ing may be done to evaluate for a metabolic condition called Sanfilippo syndrome. Developmental milestones refer to the skills infants and toddlers acquire as they get older, such as smiling, cooing, grasping toys, rolling over, walking, and talking. Weissenbacher-Zweymuller syndrome (WZS) is a genetic form of dwarfism in which affected individuals are born with small, underdeveloped jaws (microg- nathia), cleft palate, short arms and legs (rhizomelia), There is no cure for Weaver syndrome. However, the “dumbbell” shaped arm and leg bones, protruding wide symptoms that cause problems can be treated and man- spaced eyes (hypertelorism), and incompletely formed aged. Surgery may be used to correct any skeletal prob- back bones (vertebral coronal clefts). Physical forms of dwarfism, individuals affected by and occupational therapy may help with muscle tone. Weissebacher-Zweymuller start out being affected by Speech therapy may help with speech, and behavioral dwarfism, and then have a period of gradual growth and assessments and treatments may help with behavioral bone change that leads to normal physical development problems. Any artery in the body can (detect a deletion) in over 99% of individuals with be affected, but the most common narrowing is seen in Williams syndrome. This condition is called supravalvar syndrome means that no genetic material is missing from aortic stenosis (SVAS) and occurs in approximately 75% the critical region on chromosome 7q11. The degree of Prenatal testing (testing during pregnancy) for narrowing is variable. If left untreated, it can lead to high Williams syndrome is possible using the FISH test on blood pressure, heart disease, and heart failure. The DNA sample obtained by chorionic villus sampling blood vessels that lead to the kidney and other organs can (CVS) or by. As individuals with Williams syn- prenatal test that is usually performed at 16–18 weeks of drome age, their heel cords and hamstrings tend to pregnancy and involves removing a small amount of the tighten, which can lead to a stiff awkward gait and curv- amniotic fluid that surrounds the fetus. Individuals with Williams syndrome generally have excellent language and memorization skills.

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Oral or topical medica- areas of skin inflammation to unusually dry buy cheap clindamycin 150mg line, thickened purchase clindamycin 150mg without prescription, tions may also be used to treat the inflammatory skin scaly skin over the entire body clindamycin 150mg without a prescription. Most affected individuals conditions and provide some symptomatic and cosmetic also have congenital heart defects order clindamycin 150mg on-line, particularly obstruc- relief. This rience growth delays, mild to severe mental retardation, program is usually initiated and overseen by a team of 200 GALE ENCYCLOPEDIA OF GENETIC DISORDERS health care professionals including a pediatrician, physi- WEBSITES cal therapist, and occupational therapist. National Center for Biotechnology dren is often helpful is assessing problem areas and Information. Support groups and community organizations for people with cardiofaciocutaneous syndrome or other disabilities Oren Traub, MD, PhD often prove useful to the affected individual and their families. Children with cardiofaciocutaneous syndrome should be seen regularly by a team of health care profes- ICarnitine palmitoyltransferase sionals, including a pediatrician, medical geneticist, pedi- deficiency atric cardiologist, dermatologist, and neurologist. Consultation with a reconstructive surgeon may be of use Definition if some of the physical abnormalities are particularly Carnitine palmitoyltransferase (CPT) deficiency debilitating. CPT-I Prognosis deficiency affects lipid metabolism in the liver, with seri- ous physical symptoms including coma and seizures. The prognosis of children with cardiofaciocutaneous Two types of CPT-II deficiency are similar in age of onset syndrome depends on the severity of the symptoms and and type of symptoms to CPT-I deficiency. Preventive measures and treatments are available relatively recently, very little is known regarding the level for CPT-I deficiency, and the muscle form of CPT-II of functioning and the average life span of individuals deficiency. Resources Description BOOKS Carnitine palmitoyltransferase (CPT) is an important Behrman, R. CPT speeds up the transport of long-chain fatty PERIODICALS acids across the inner mitochondria membrane. PO Box Understanding the symptoms of CPT requires some 8923, New Fairfield, CT 06812-8923. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 201 Long-chain fatty acids (LCFAs) are the most abundant nents. Myoglobin is filtered from the blood by the kid- type, and have at least 12 carbon atoms. Both are converted into energy (oxidized) inside Severe and/or repeated episodes of rhabdomyolysis and mitochondria, structures within each cell where numer- myoglobinuria can cause serious kidney damage. Genetic profile A single mitochondrion is enclosed by a double- CPT-I deficiency is caused by defects in the CPT1 layer membrane. CPT-II deficiency inner portion of this membrane without first being bound results from mutations in the CPT2 gene on chromo- to carnitine, a type of amino acid. However, LCFAs cannot be oxidized Both CPT-I and CPT-II deficiency are considered inside the mitochondrion while still attached to carnitine, autosomal recessive conditions. This means that both so CPT-II reverses the action of CPT-I and removes car- parents of an affected person carry one defective CPT nitine. Once accomplished, LCFAs can proceed to be gene, but also have a normal gene of that pair. Therefore, deficiency of either CPT-I or a single recessive gene typically do not express the defi- CPT-II results in defective transfer and utilization of ciency because the second normal functioning gene, is LCFAs in the mitochondria. A person with two mutated genes has no normal gene to make up for the deficiency, and thus CPT-I is involved in lipid metabolism in several tis- expresses the disease. There, LCFAs are bro- the same autosomal recessive condition face a 25% ken down and ketone bodies are produced. Like lipids chance in each pregnancy that they will both pass on the and glucose, ketone bodies are used by the body as fuel, defective gene and have an affected child. Deficiency of CPT-I Several individuals proven to be carriers of CPT-II in the liver results in decreased levels of ketone bodies deficiency have had mild symptoms of the disorder. Hypoketosis combined with hypoglycemia in a child can lead to weakness, seizures, and coma. It is not yet clear why some carriers which do not require CPT-I to produce energy.

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