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Typically viagra sublingual 100mg for sale, the nervous system or intelligence of an tion buy 100 mg viagra sublingual visa, prenatal diagnosis is available to them to help deter- individual with MPS VI is not affected generic 100 mg viagra sublingual with visa. Individuals with mine if a fetus is affected with the same MPS as their a more severe form of MPS VI can have airway obstruc- other child cheap viagra sublingual 100 mg with amex. This can be accomplished through testing tion discount 100 mg viagra sublingual visa, develop hydrocephalus (extra fluid accumulating samples using procedures such as an amniocentesis or in the brain) and have bone changes. Each of these proce- viduals with a severe form of MPS VI are more likely to dures has its own risks, benefits, and limitations. With a milder form of the condi- tion, individuals tend to be shorter than expected for their Treatment age, develop corneal clouding, and live longer. The gene involved in MPS VI is believed to be located on the long There is no cure for mucopolysaccharidosis, how- arm of chromosome 5 (approximate location 5q11-13). In those conditions, bone marrow transplantation Quadrangle, Crewe Hall, Weston Rd. PO Box Furthermore, bone marrow transplantation is not felt to 8923, New Fairfield, CT 06812-8923. National healthy individuals who are carriers of the defective Center for Biotechnology Information. There is also the availability of prenatal diagnosis for all MPS disease to detect affected fetuses. Aufox, MS, CGC Resources Mucoxiscidosis see Cystic fibrosis PERIODICALS Bax, Martin C. Originally thought Canadian Society for Mucopolysaccharide and Related to be separate conditions, it is now known that Muir- Diseases. Torre syndrome and Hereditary non-polyposis colon can- GALE ENCYCLOPEDIA OF GENETIC DISORDERS 757 KEY TERMS Allelic—Related to the same gene. Lymph node—A bean-sized mass of tissue that is Benign—A non-cancerous tumor that does not part of the immune system and is found in different spread and is not life-threatening. Biopsy—The surgical removal and microscopic Lynch syndrome—A genetic syndrome causing examination of living tissue for diagnostic purposes. Colonoscopy—Procedure for viewing the large intestine (colon) by inserting an illuminated tube Malignant—A tumor growth that spreads to another into the rectum and guiding it up the large intestine. Mismatch repair—Repair of gene alterations due to Gene—A building block of inheritance, which con- mismatching. Each gene is individual, or manifest as disease, and can be trans- found on a precise location on a chromosome. Genitourinary—Related to the reproductive and Polyp—A mass of tissue bulging out from the nor- urinary systems of the body. Hereditary non-polyposis colon cancer (HNPCC)— Radiation—High energy rays used in cancer treat- A genetic syndrome causing increased cancer risks, ment to kill or shrink cancer cells. Sebaceous—Related to the glands of the skin that hMLH1 and hMSH2—Genes known to control mis- produce an oily substance. Splenic flexure—The area of the large intestine at Keratoacanthoma—A firm nodule on the skin typi- which the transverse colon meets the descending cally found in areas of sun exposure. When these genes are not func- conditions are the same including increased risk of col- tioning properly, there is a higher chance of cancer due to orectal cancer (cancer of the colon and rectum) and can- the alterations that accumulate in the genetic material. Both conditions are hereditary cancer Heritable mutations in at least five mismatch repair genes predisposition syndromes meaning that the risk of cancer have been linked to HNPCC although the majority, over has been linked to an inherited tendency for the disease. Mutations in A unique feature of Muir-Torre syndrome is the skin hMLH1 and hMSH2 also have been reported in Muir- tumors. The most common skin tumors associated with Torre syndrome, although most have been hMSH2 muta- Muir-Torre syndrome are benign (non-cancerous) or tions. The location of the hMLH1 gene is on malignant (cancerous) tumors of the oil-secreting (seba- chromosome 3 at 3p21. Genetic testing for hMLH1 skin finding is the presence of growths called keratoa- and hMSH2 is available but the detection rate for mis- canthomas. Therefore, diagnosis of Muir-Torre syndrome is not based on genetic testing alone but also on the presence of Genetic profile the typical features of the disease. HNPCC and Muir-Torre syndrome are allelic mean- Muir-Torre syndrome is inherited in an autosomal ing that these disorders are due to changes in the same dominant fashion. Genes, the units of instruction for the body, can Muir-Torre syndrome and only one gene of the paired have changes or mutations that develop over time. Children 758 GALE ENCYCLOPEDIA OF GENETIC DISORDERS TABLE 1 TABLE 2 Screening recommendations for patients with Additional screening recommendations for females Muir-Torrie syndrome with Muir-Torrie syndrome Test/Procedure Age Frequency Test/Procedure Age Frequency Physical exam 20 Every 3 years Breast exam 20–40 Every 3 years 40 Annually 40 Annually Digital rectal exam Any Annually Pelvic exam 18 or sexually active Annually Gualac of stool for occult blood Any Annually Pap smear 18 or sexually active Annually Lab work-up Any Mammogram 40–49 Every 1–2 years Carcinoembryonic antigen 50 Annually Complete blood cell count with Endometrial biopsy Menopause Every 3–5 years after onset differential and platelet count Erythrocyte sedimentation rate Serum chemistries (SMA-20) Urinalysis Any Annually Chest roentgenogram Any Every 3–5 years drome with multiple types of internal cancers have been Colonoscopy Any Every 5 years reported. The most common internal organ cancer is col- If positive for polyps Every 3 years orectal cancer.

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The QT inter- val usually does not exceed one half of the RR interval (the distance between two R waves) discount viagra sublingual 100mg mastercard. Count the number of QRS cycles in a 6-s strip and multiply it by 10 to roughly estimate the rate discount 100 mg viagra sublingual fast delivery. If the rhythm is regular you can be more exact in determining the rate by dividing 300 by the number of 0 cheap 100 mg viagra sublingual otc. Determine whether each QRS is preceded by a P wave discount viagra sublingual 100 mg free shipping, look for variation in the PR interval and RR interval (the duration between two QRS cycles) buy 100mg viagra sublingual with visa, and look for ectopic beats. One way to determine LVH is to calculate the sum of the S wave in 19 V1 or V2 plus the R wave in V5 or V6. Check for the presence of ST-segment elevation or depres- sion, Q waves, inverted T waves, and poor R-wave progression in the precordial leads. A more detailed discussion of each of these categories is presented in the following sections. BASIC INFORMATION Equipment Bipolar Leads • Lead I: Left arm to right arm • Lead II: Left leg to right arm • Lead III: Left leg to left arm Precordial Leads: V1 to V6 across the chest, as shown in the section on electrocardio- grams in Chapter 13 (see Figure 13–9, page 267). With normal sinus rhythm, the P wave is upright in leads I, II, aVF, V4, V5, and V6 and inverted in aVR. The first negative deflection of the QRS complex (not always present and, if present, may be pathologic) • R Wave. The first positive deflection (R) is the positive deflection that sometimes occurs after the S wave) • S Wave. Normally upright in leads I, II, V, V, V, and V and inverted in aVR 19 3 4 5 6 AXIS DEVIATION The term axis, which represents the sum of the vectors of the electrical depolarization of the ventricles, gives some idea of the electrical orientation of the heart in the body. In a healthy person, the axis is downward and to the left, as shown in Figure 19–3. The QRS axis is midway between two leads that have QRS complexes of equal ampli- tude, or the axis is 90 degrees to the lead in which the QRS is isoelectric, that is, the ampli- tude of the R wave equals the amplitude of the S wave. QRS negative in I and positive in aVF, +105 to +180 degrees • Extreme Right Axis Deviation. QRS negative in I and negative in aVF, +180 to 19 +270 or –90 to –180 degrees Clinical Correlations • RAD. Seen with RVH, RBBB, COPD, and acute PE (a sudden change in axis toward the right), as well as in healthy individuals (occasionally) • LAD. Seen with LVH, LAHB (–45 to –90 degrees), LBBB, and in some healthy in- dividuals 19 Basic ECG Reading 371 HEART RATE Bradycardia: Heart rate <60 bpm Tachycardia: Heart rate >100 bpm Rate Determination: Figure 19–4. RHYTHM Sinus Rhythms Normal: Each QRS preceded by a P wave (which is positive in II and negative in aVR) with a regular PR and RR interval and a rate between 60 and 100 bpm (Figure 19–5) Sinus Tachycardia: Normal sinus rhythm with a heart rate >100 bpm and <180 bpm (Figure 19–6) Clinical Correlations. Anxiety, exertion, pain, fever, hypoxia, hypotension, increased sympathetic tone (secondary to drugs with adrenergic effects [eg, epinephrine]), anticholin- ergic effect (eg, atropine), PE, COPD, AMI, CHF, hyperthyroidism, and others Sinus Bradycardia: Normal sinus rhythm with a heart rate <60 bpm (Figure 19–7) Clinical Correlations. Well-trained athlete, normal variant, secondary to medications (eg, beta-blockers, digitalis, clonidine), hypothyroidism, hypothermia, sick sinus syndrome (tachy–brady syndrome), and others 19 FIGURE 19–4 Sample strip for rapid rate determination (see text for procedure). Estimating the rate by counting the number of beats (eight) in the two 3-s intervals. Because the beats are separated by exactly four beats, you do not need to extrapolate. Treatment • If asymptomatic (good urine output, adequate BP, and normal sensorium), no ther- apy needed. Atrial Arrhythmias PAC: Ectopic atrial focus firing prematurely followed by a normal QRS (Figure 19–8). The compensatory pause following the PAC is partial; the RR interval between beats 4 and 6 is less than between beats 1 and 3 or 6 and 8. Usually not of clinical significance; can be caused by stress, caf- feine, and myocardial disease PAT: A run of three or more consecutive PACs. Can be seen in healthy individuals but also occurs with a variety of heart diseases. Can include adenosine, verapamil, digoxin, edrophonium, or beta-blockers (propranolol, metoprolol, and esmolol). Verapamil and beta-blockers should be used cautiously at the same time because asystole can occur. Particularly in the hemodynamically unstable patient (see Chapter 21, page 467) MAT: An atrial arrhythmia that originates from ectopic atrial foci. It is characterized by varying P-wave morphology and PR interval and is irregular (Figure 19–10).

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This is of laboratory culture failures (no growth of cells and no nearly ten times higher than the risk in the general popu- results) compared to MTA cheap 100 mg viagra sublingual amex. The frequency of clubfoot in the MTA group was results was slightly longer in the EA group viagra sublingual 100mg amex. Prior stud- entirely a surprise cheap viagra sublingual 100 mg, since a smaller amount of fluid is ies of mid-trimester amniocentesis did not reveal an obtained when EA is performed discount 100 mg viagra sublingual free shipping. Hence effective 100mg viagra sublingual, there are fewer increased frequency of infants with clubfoot or other cells, and culturing takes longer. Clubfoot was more common when testing was per- Demographics formed during the eleventh, rather than the twelfth, week According to the National Center for Health of pregnancy. This suggests that there may be a specific Statistics (NCHS), 112,776 amniocentesis procedures window sometime in the eleventh to twelfth weeks dur- were performed in the United States in 1998, the most ing which the fetus may be particularly vulnerable to recent year for which data is available. However, it could, in turn, affect the flow of blood to the foot or cause direct pres- United States had this procedure performed. It is likely sure on the developing limb, either of which could lead to that this is an underestimate, however. It is difficult to know which potential mecha- information from birth certificates registered in each state nism could be correct since the number of affected and the District of Columbia. It is also not pos- Of note, a separate, much smaller, study also demon- sible to know how many amniocentesis procedures were strated an increased incidence of clubfoot (1. Enrollment in the study was stopped once the association between EA Summary and clubfoot was identified. There were no birth defects Amniocentesis is a reliable procedure for prenatal identified after CVS. It is pri- An additional concern recognized from CEMAT was marily offered to pregnant women who are at increased a higher rate of miscarriage after EA. A procedure- risk, based on their age, family history, or other factor, of related loss was defined as one that occurred either having a child with a genetic condition. Amniocentesis shortly after the testing or before twenty weeks of preg- provides accurate information about fetal chromosomes nancy. In contrast, miscarriage occurred in Additional specialized studies may be performed on an seventeen (0. Despite these benefits, amniocentesis is of loss appeared to more often follow technically chal- associated with a slightly increased chance of pregnancy lenging procedures. Each woman should discuss the potential risks and 78 GALE ENCYCLOPEDIA OF GENETIC DISORDERS benefits of amniocentesis with a doctor or genetic coun- selor to make a decision about whether or not she has this KEY TERMS testing. Early amniocentesis, or procedures performed before the thirteenth week of pregnancy, has been associ- Aspiration—Inhalation of food or saliva. Health Reference Voluntary muscle—A muscle under conscious Series, edited by Joyce Brennfleck Shannon. There are no known causes or cures for amyotrophic lateral sclero- ORGANIZATIONS sis, and the disease can afflict anyone. PO Box death is paralysis of the respiratory muscles which con- 96920, 409 12th St. Amyotrophic lateral sclerosis is a progressive dis- WEBSITES ease of the central nervous system. The parts of the body that are not affected by ALS are those areas not involved in the use of motor neurons. The mind remains very sharp and in control of sight, hearing, smell, touch and taste. Amyotrophic lateral scle- IAmyotrophic lateral sclerosis rosis rarely causes pain, yet leaves patients dependent on the care of others during advanced stages. Definition At any given time there are about 30,000 people in Amyotrophic lateral sclerosis (ALS) is a fatal dis- the United States with amyotrophic lateral sclerosis, and ease that affects nerve cells in the brain and spinal cord about 5,000 new cases are reported each year. ALS pro- GALE ENCYCLOPEDIA OF GENETIC DISORDERS 79 NORMAL SPINAL NEURON DISEASED SPINAL NEURON Normal nerve fiber Affected nerve fiber Normal skeletal muscle Wasted skeletal muscle The degeneration and death of motor neurons in the spinal cord and brain results in amyotrophic lateral sclerosis (ALS). These neurons convey electrical messages from the brain to the muscles to stimulate movement in the arms, legs, trunk, neck, and head.

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