By D. Jaffar. University of Maryland at Baltimore. 2018.

The karyotype of an isochromo- some for the long arm of the X chromosome would be 46;X cheap imipramine 75 mg with visa,i(Xq); this karyotype results in an individual with Turner syndrome discount imipramine 50mg line, indicating that most of the critical genes responsible for the Turner phenotype are on Xp purchase imipramine 75mg on-line. Isochromosome Xq Uniparental Disomy Uniparental disomy is a rare condition in which both copies of a particular chromosome are contributed by one parent. This may cause problems if the chromosome contains an imprinted region or a mutation. For example, 25-30% of Prader- Willi cases are caused by maternal uni- parental disomy of chromosome 15. A smaller percentage of Angelman syndrome is caused by paternal uniparental disomy of chromosome 15. For example, a probe that is specific for chromosome 21 will hybridize in • Deletions, including three places in the cells of a trisomy 21 patient, providing a diagnosis of Down syndrome. Spectral Karyotyping Spectral karyotyping involves the use of five different fluorescent probes that hybridize dif- ferentially to different sets of chromosomes. In combination with special cameras and image- processing software, this technique produces a karyotype in,which every chromosome is "painted" a different color. This allows the ready visualization of chromosome rearrangements, such as small translocations, e. Haploid (23, normal gametes) • Diploid (46, normal somatic cells) • Triploid (69; lethal). A 26-year-old woman has produced two children with Down syndrome, and she has also had two miscarriages. A 6-year-old boy has a family history of mental retardation and has developmental delay " and some unusual facial features. Multiple attempts to have a second child have ended in miscarriages and spontaneous abortions. Karyotypes of the mother, the father, and the most recently aborted fetus are represented schematically below. A woman brings her 16-year-old daughter to a physician because she has not yet begun menstruating. A 38-year-old woman in her 15th week of pregnancy undergoes ultrasonography that reveals an increased area of nuchal transparency. A 37-year-old woman is brought to emergency department because of crampy abdominal pain and vaginal bleeding for 3 hours. Speculum examination shows the presence of blood in the vagina and cervical dilatation. After discussing the condition, with the patient, she gave her consent for dilatation and curettage. As ii translocation carrier, it is possible that she can transmit the translocated chromosome, containing the long arms of both 14 and 21, to each of her offspring, If she also transmits her ~or~af copy of chromosome 21, then she will effectively transmit two copies of chromosome 21. When this egg cell is fertilized by a sperm cell carryinganother copy of chromosome 21, the zygote will receive three copies of the long arm of chromo- some 21. The miscarriages may represent fetuses that inherited three copies of the long arm and werespontaneously aborted during pregnancy. Although the risk for Down syndrome increases if a woman has had a previous child, there is no evidence that the risk increases if a more distant relative, such as a first cousin, is affected (choice A). An extra copy of material from chromosome 14 or 18 (choice D) could result in a miscar- riage, but neither would produce children with Down syndrome, which is caused by an extra copy of the long arm of,chromosome 21. Heavy irradiation has been shown to induce nondisjunction in some experimental ani-. However, many other syndromes also include mental retardation as a feature, so this would not be a specific test. Testicular volume (choice E) is increased in males with fragile X syndrome, but this is observed in postpubertal males. Although the father is a translocation carrier, his genetic material is balanced, not unbalanced (choice E). It should be high on the differential diagnosis list for a female adolescent of short stature who presents with primary amenorrhea. Balanced translocations (choices Band C) have few,if any, consequences on the phenotype,. Deletion of a locus subject to imprinting (choice E) is consistent with Prader- Will syn- drome or Angelman syndrome but is not associated with the phenotype described. The fetus has unbalanced chromosomal material (additional chromosomal material on one copy of chromosome 18). One of the parents is likely to be a carrier of a reciprocal translocation involving chromosome 18 andone other chromosome (unspeci- fied in stem).

Worksheet 8-7 My Thank You Mind Exercise Mind Chatter Playful Response Chapter 8: Managing Mindfulness and Achieving Acceptance 123 Just for fun order 25mg imipramine, consider trying out some other ways of playing with your mind’s chatter purchase 25 mg imipramine with amex. Try singing the negative thoughts to the tune of “Happy Birthday to You” or “Row discount imipramine 25mg, Row, Row Your Boat. When you sing or say your self- downing thoughts in a humorous manner, it’s much harder to take them seriously. Worksheet 8-8 My Reflections Arriving at Acceptance Once or twice each winter, we take a drive up to the crest of New Mexico’s Sandia Mountains, elevation 10,000 feet. The parking lot at the crest is usually plowed, but the last time we went, we managed to get stuck in a snowbank. As the wheels began spinning uselessly, I (Charles) uttered a few choice words of frustration. Laura reminded me that we had written about this very subject (getting stuck in the snow) in our last book, Depression For Dummies. She said, “Remember, you have to accept where you’re at to get where you want to go. I gently applied the gas again until the tires started to spin, and once again, I took my foot off the accelerator. Rather, the message here is that in order to move forward, it’s important to ease up and accept where you’re at for a moment. Recognizing and accepting those feelings is important because if you absolutely can’t stand to be worried or down, then you’ll inevitably feel more upset when you experience these normal feelings. But as far as we know, the only humans who don’t feel some anxiety or sadness are, well. To accurately express the expe- rience, you need to acquire a dispassionate understanding of the essence of your emotions. Whether you’re depressed or anxious, accepting the emo- tional angst dispassionately will help you handle your bad feelings without becoming more upset. Read through the following example, and try out the exercise when you’re feeling troubled. Kelsey needs to renew her driver’s license, so she runs over to the Motor Vehicles Depart- ment on her lunch hour. Although there’s only one clerk on duty, she’s pleased to see only four people ahead of her. As the discussion at the front of the line drags on, Kelsey looks at her watch and starts to worry about getting back to work on time. She recalls the Accepting Angst Dispassionately exercise (see Worksheet 8-9) and runs through it in her mind. Now that I’m paying attention, I can see that these feelings go up and down every few minutes; they aren’t constant. I’m thinking things like, “I’m going to be late and that’s horrible,” and “That stupid man; who does he think he is anyway? The next time you notice unpleasant feelings, work through the exercise in Worksheet 8-10. If you happen to have this book in front of you at the time, write your reactions down imme- diately. If you don’t have your workbook on hand, recall as many of these questions as you can and answer them in your mind. The main goal is simply to adopt an objective perspec- tive that describes your feeling without judging it. Chapter 8: Managing Mindfulness and Achieving Acceptance 125 Worksheet 8-10 Accepting Angst Dispassionately 1. Think of yourself as a scientist interested in objective observation and description. This exercise is particularly useful when you find yourself in frustrating, unavoidable predicaments, such as Being stuck in a traffic jam. Connecting with Now People have the rather curious habit of allowing their thoughts to dwell on the past or the future. If you really think about it, most of what you get unhappy or worried about has to do with events that happened in the past or are yet to occur. When you spend too much time in the past or future, you’re bound to ruin your present. What’s odd is that most of the time she’s in the car, we’re taking her to the groomer. Nevertheless, every time we open the car door, she eagerly bounds in and enthusi- astically sticks her head out the window to enjoy the wind.

For that purpose cheap imipramine 75 mg amex, we strongly recommend that you consider reading one or both of the companion books discount 75mg imipramine, Depression For Dummies (Wiley) and Overcoming Anxiety For Dummies (Wiley) cheap 75 mg imipramine overnight delivery. Anxiety & Depression Workbook For Dummies 6 Par t I Analyzing Angst and Preparing a Plan In this part. You discover how your problems began and work toward accepting that you’re not to blame for having them. In case you feel stuck or unable to move forward, we give you strategies for overcoming obstacles. Finally, you see how to keep track of both your moods and the thoughts that accompany distressing feelings. Chapter 1 Sor ting Ou t Signs of Anxiet y and Depression In This Chapter Figuring out how depression and anxiety affect you Finding your personal starting point Knowing when to get more help veryone feels sad or worried from time to time. And most people have shed a tear or two watching a sad movie or a news story about a poignant tragedy. But when sadness fills most of your days or worries saturate your mind, that’s not so normal. Anxiety and depression can affect how you think, behave, feel, and relate to others. The discussion and quizzes in this chapter help you figure out how depression and anxiety affect your life. Don’t freak out if the quizzes in this chapter reveal that you have a few symptoms of anxiety or depression. If your symptoms are numerous and severe or your life seems out of control, you should consult your primary care physician or a mental health professional. These quizzes aren’t meant to replace trained mental health professionals — they’re the only people who can really diagnose your problem. Dwelling on Dismal and Worried Thoughts If you were able to listen in on the thoughts that reverberate through a depressed person’s head, you might hear “I’m a failure,” “My future looks bleak,” “Things just keep on getting worse,” or “I regret so many things in my life. The very darkest thoughts usually lead to depression, whereas anxiety usually stems from thoughts about being judged or hurt. Take the quiz in Worksheet 1-1 to determine if your thoughts reflect a problem with anxiety or depression. Although these thoughts can occur to someone who’s either depressed or anxious (or both), the odd-numbered items are most indicative of depression, and the even-numbered items reflect anxious thinking. However, the more items you endorse, the more you have cause for concern; specifically, if you check more than eight or ten items, you should think seriously about addressing your condition. At the same time, if you very strongly believe in any of these items, you just may have too much anxiety or depression. If you have any thoughts of suicide or utter hopelessness, you should consult your primary care physician or a mental health professional immediately. Chapter 1: Sorting Out Signs of Anxiety and Depression 11 Walking in Quicksand: Apprehensive and Blue Behavior If you were to follow a depressed or anxious person around, you might see some behavioral signs of their emotional turmoil. That’s because depression and anxiety on the inside affect what people do on the outside. For example, a depressed person may look tired, move slowly, or withdraw from friends and family; an anxious person may avoid socializing or have a trembling voice. Take the quiz in Worksheet 1-2 to see if your behavior indicates a problem with anxiety and/or depression. I feel compelled to repeat actions (such as hand washing, checking locks, arrang- ing things in a certain way, and so on). Even-numbered items are most consistent with anxiety, and odd-numbered items largely indicate depression. And, of course, like many people, you may have symptoms of both types of problems. In fact, some people primar- ily suffer from changes in appetite, sleep, energy, or pain while reporting few problematic thoughts or behaviors. These symptoms directly affect your body, but they’re not as easily observed by other people as the behavioral signs covered in the preceding section. Part I: Analyzing Angst and Preparing a Plan 12 Take The Sad, Stressed Sensations Quiz in Worksheet 1-3 to see if your body is trying to tell you something about your emotional state. The symptoms in this quiz can also result from various physical illnesses, drugs in your medicine cabinet, or even your three-cup coffee fix in the morning. Be sure to consult your primary care physician if you’re experiencing any of the symptoms in The Sad, Stressed Sensations Quiz. It’s always a good idea to have a checkup once a year and more frequently if you experience noticeable changes in your body. Although physical sensations overlap in anxiety and depression, even-numbered items in the quiz above are most consistent with anxiety, and the odd-numbered items usually plague those with depression. Reflecting upon Relationships When you’re feeling down or distressed for any length of time, odds are that your relation- ships with those around you will take a hit.

The results and the condition What is the most likely explanation of these serum of the tubes indicate that blood from a full tube calcium results? Severe hemolysis during sample collection chelating the calcium and increasing the potassium 75mg imipramine with visa. Te wrong order of draw was used for vacuum patients) may sometimes appear discrepant because tube collection medications and nonthyroid illnesses can affect test D buy imipramine 25 mg visa. In the early of error/Electrolytes/3 stage of therapy buy cheap imipramine 75 mg line, the patient should be monitored by the free T4 result. C Phenytoin levels must be monitored closely because explanation for these results? In vitro drug interference with the free T4 assay clearance decreases as blood levels increase. Results are consistent with a euthyroid patient in blood levels, saturation of the hepatic hydroxylating the early phase of therapy enzymes can occur, causing an abrupt increase in Chemistry/Evaluate laboratory data to explain the blood level from a small increase in dose. The inconsistent results/Endocrinology/3 drug half-life estimated from the two drug levels is approximately 15 hours, which is within the range 43. Free signs of phenytoin toxicity including ataxia, phenytoin is the physiologically active fraction and a stat phenytoin is determined to be 15. This patient’s free phenytoin level should acceptable limits for all tests, but the physician be measured, and the dose of phenytoin reduced questions the accuracy of the results. What is the to produce a free drug level that is within the most appropriate next course of action? The results shown in the table above are Answers to Questions 44–45 obtained from three consecutive serum samples using an automated random access analyzer 44. The glucose results show the shift are within the acceptable range, and no conclusively that the samples are not from the same error codes are reported by the analyzer for patient. Report the results and proceed with other tests completely evaluated and the cause of these results since no analytical problems are noted identified and corrected. Repeat the controls before continuing with successful recalibration and performance of controls further testing, but report the results within acceptable limits. Check sample identification prior to reporting assay should be repeated on the three samples along D. Therefore, to achieve the woman at approximately 12 weeks gestation is needed sensitivity, the test should be repeated at 2. If the result is still equal to or greater than course of action is most appropriate? A positive serum test should always be repeated, and if positive again, followed by ultrasound. B The delta check compares the difference of the the laboratory information system. Given the patient’s two most recent laboratory results within a results shown in the table above, identify the 3-day period to a delta limit usually determined as a most likely cause. Results suggest altered metabolic status caused by check is to detect sample identification errors. Te patient was not fasting when the sample was analytical errors and interfering substances such as collected on day 2 hemolysis, icterus, and lipemia, and by metabolic C. Te samples were drawn from two different changes associated with disease or treatment. Tests showing a of error/Automation/3 significant difference are inorganic phosphorus, 47. Te physician agreement between days, and the differences are suspected a molar pregnancy and requested that attributable to normal physiological and analytical the laboratory repeat the test checking for the variation. Obtain a new plasma specimen and heat (calibration) curve that reverses direction at very inactivate before testing high antigen concentrations. Obtain a urine specimen and perform the assay double antibody sandwich assays when both the C. Perform a qualitative pregnancy test capture antibody and the enzyme-conjugated D. Perform a serial dilution of the sample and repeat antibody are incubated with the antigen at the same the test time. The excess antigen saturates both antibodies Chemistry/Identify sources of error/Immunoassay/2 preventing formation of a double antibody sandwich. It can be detected by diluting the sample (antigen) in which case the assay result will be greater than in the undiluted sample. An alternative solution is to perform the test using a competitive binding assay or a sandwich assay in which the enzyme-labeled antibody is not added until after separation of free and bound antigen.

Have concentration values that cover the Answers to Questions 29–34 laboratory’s reportable range C cheap 25 mg imipramine free shipping. For all other tests generic imipramine 50mg with mastercard, a score below 80% Education and management/Laboratory regulation is defined as unsatisfactory performance order 50 mg imipramine. Tree times the normal range for the specific for calibration is every 6 months or more frequently analyte if specified by the manufacturer. Traceable to a reference method and reference must cover the reportable range of the method. Twice the laboratory’s reference range for the (more if specified by the manufacturer). C Calibrators must have an assigned concentration Education and management/Laboratory regulation determined by assay using a reference method. Tests that are qualitative or waived and some high-complexity tests as well as waived and moderate-complexity tests moderate-complexity tests. Waived and moderate-complexity tests laboratory must be certified at all three levels. B The Civil Rights Act of 1964 prohibits by federal law discrimination in employment because of race, color, Education and management/Laboratory regulation religion, or gender. Sexual harassment is a form of discrimination hear complaints of discrimination by employees and and therefore is prohibited by the: initiate legal action as appropriate. Department of Health and Human Services Education and management/Labor law/1 530 Chapter 9 | Education and Management 35. A new employee’s performance is to be evaluated not be released without his or her consent to at the end of his or her probationary period, and anyone outside the clinical laboratory except to the: must relate to: A. Recruitment practices Education and management/Laboratory regulation Education and management/Apply principles of and law/2 laboratory management/Personnel/1 36. Unethical behavior by a laboratory supervisor Answers to Questions 35–40 that results in a compromise of employee safety should be: 35. D Direct confrontation is in order, followed by laboratory management/Personnel/2 reporting the behavior to a higher authority at 37. Insufficient work space area laboratory deficiencies, while outdated or inadequate C. D Sexual harassment is a form of discrimination and it is prohibited by the Civil Rights Act of 1964 38. Unwelcome sexual advances by a supervisor a favorable performance evaluation constitutes B. Additionally, offensive language fellow laboratory employee and behavior with sexual connotations are forms of C. These documents must be located in an hazardous chemicals address which of the easily accessible place so that all employees have following conditions? Physical characteristics of the chemical once per year during safety inservice training. Specific health hazards associated with the review should reflect the job description used at the chemical time of hire. All of these options job description that states the responsibilities and Education and management/Laboratory regulation activities of the position. Job performance criteria and safety/1 and the rating system used should be clearly stated and available to the employee. Which regulatory agency mandates the following Answers to Questions 41–45 requirements for protection of employees of clinical laboratories? All clinical laboratories in the United States The law requires health care providers to safeguard B. Environmental Protection Agency laboratories and to provide patients with a compliance statement D. Industrial laboratories that defines who is entitled to receive their health Education and management/Apply knowledge of lab information. The physician ordering the tests as regulations/1 well as health care workers directly involved with the patient are allowed to see laboratory results. Records of a patient’s laboratory test results may Laboratory results may also be released to the be released without the prior consent of the patient patient’s insurance provider, and to medical review to all of the following except: officers, and public health officials. All of these options Education and management/Apply knowledge of quality performance/2 45. Improve overall wages for lab employees Education and management/Quality improvement/2 532 Chapter 9 | Education and Management 46. Which of the following is not an appropriate Answers to Questions 46–51 guideline for phlebotomists to follow in order to prevent a malpractice lawsuit?