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By M. Achmed. University of California, Irvine. 2018.

Definition Diagnosis Muscular dystrophy is the name for a group of inher- ited disorders in which strength and muscle bulk gradu- Diagnosis is usually made based on the observation ally decline discount 20mg erectafil mastercard. Nine types of muscular dystrophies are of multiple lentigenes and the presence of two or more of generally recognized purchase erectafil 20mg visa. A family history is also helpful since the syndrome has Description dominant inheritance. There is currently no medical test that can definitively confirm the diagnosis of multiple The muscular dystrophies include: lentigenes syndrome. DMD occurs in about one in 3,500 Treatment is directed toward the specific conditions male births, and affects approximately 8,000 boys and of the individual. A milder form occurs managed with the use of a pacemaker and appropriate in a very small number of female carriers. Hearing loss may be improved with the use of hearing • Becker muscular dystrophy (BMD): BMD affects older aids. Genetic counseling is recommended when there is a family history of freckle-like spotting of the skin and • Emery-Dreifuss muscular dystrophy (EDMD): EDMD heart defects, as these suggest the possibility of inherited affects both males and females because it can be inher- multiple lentigenes syndrome. Symptoms include contractures and weakness in the calves, weakness in the shoulders and upper arms, and Prognosis problems in the way electrical impulses travel through The prognosis for people with multiple lentigenes the heart to make it beat (heart conduction defects). Resources • Limb-girdle muscular dystrophy (LGMD): LGMD begins in late childhood to early adulthood and affects PERIODICALS both men and women, causing weakness in the muscles Abdelmalek, Nagla, and M. It is the most variable of the muscular dystro- Center Proceedings (December 1999): 272-274. PO Box LGMD have probably been misdiagnosed in the past, 8923, New Fairfield, CT 06812-8923. FSH occurs in about one out of every 20,000 people, and affects approximately 13,000 peo- Paul A. DM, FSH, and OPMD, exhibit this ease, it affects both men and women, causing general- pattern of inheritance, as do some forms of DD and ized weakness first seen in the face, feet, and hands. When a person affected by the condition has a is accompanied by the inability to relax the affected child with someone not affected, the chances of having muscles (myotonia). It is the most common form of mus- Because of chromosomal differences between the cular dystrophy, affecting more than 30,000 people in sexes, some genes are not present in two copies. A person affects adults of both sexes, causing weakness in the eye with two X chromosomes is female, while a person with muscles and throat. While the X chromosome car- Canadian families in Quebec, and in Spanish-American ries many genes, the Y chromosome carries almost none.

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WBCs Segmented neutrophils 40%–74% Increased in bacterial infections; low numbers leave person (SEGs discount erectafil 20 mg without a prescription, POLYs) very susceptible to infection Immature neutrophils 0%–3% Increased when neutrophil count increases (BANDs) Lymphocytes (LYMPHs) 20%–40% Increased in viral infections; low numbers leave person dangerously susceptible to infection Monocytes (MONOs) 2%–6% Increased in specific infections Eosinophils (EOs) 1%–4% Increased in allergic disorders Basophils (BASOs) 0 generic erectafil 20 mg mastercard. Appendix 4•3 Blood Chemistry Tests TEST NORMAL VALUE CLINICAL SIGNIFICANCE Basic panel: An overview of electrolytes, waste product management, and metabolism Blood urea nitrogen (BUN) 7–18 mg/dL Increased in renal disease and dehydration; decreased in liver damage and malnutrition Carbon dioxide (CO2) 23–30 mmol/L Useful to evaluate acid-base balance by measuring (includes bicarbonate) total carbon dioxide in the blood: Elevated in vomiting and pulmonary disease; decreased in diabetic acidosis, acute renal failure, and hyperventilation Chloride (Cl) 98–106 mEq/L Increased in dehydration, hyperventilation, and congestive heart failure; decreased in vomiting, diarrhea, and fever Creatinine 0. When elevated, specific fractions (isoenzymes) are tested for Gamma-glutamyl Men: 6–26 U/L Women: 4–18 Used to diagnose liver disease and to test for transferase (GGT) U/L chronic alcoholism Globulins 2. Staphylococcus aureus and other Boils, carbuncles, impetigo, osteomyelitis, staphylococcal pneumonia, cystitis, staphylococci pyelonephritis, empyema, septicemia, toxic shock, and food poisoning. Streptococcus pyogenes, Streptococcus Septicemia, septic sore throat, scarlet fever, puerperal sepsis, erysipelas, streptococ- hemolyticus, and other streptococci cal pneumonia, rheumatic fever, subacute bacterial endocarditis, acute glomeru- lonephritis Bacilli Bordetella pertussis Pertussis (whooping cough). Acute inflammation of the throat with the formation of a leathery mem- branelike growth (pseudomembrane) that can obstruct air passages and cause death by asphyxiation. Acute infection of the intestine characterized by prolonged vomiting and diarrhea, leading to severe dehydration, electrolyte imbalance, and in some cases, death. Untreated syphilis is seen in the following three stages: primary-formation of primary lesion (chancre); secondary-skin eruptions and infectious patches on mucous membranes; tertiary-development of generalized lesions (gummas) and destruc- tion of tissues resulting in aneurysm, heart disease, and degenerative changes in brain, spinal cord, ganglia, and meninges. Also causes inclusion conjunctivitis, an acute eye infection, and trachoma, a chronic infection that is a common cause of blindness in underdeveloped areas of the world. The same organism causes lymphogran- uloma venereum (LGV), a sexually transmitted infection characterized by swelling of inguinal lymph nodes and accompanied by signs of general infection. Diagnosed by antibody tests, decline in specific (CD4) cells, and presenting disease, including Candida albicans infection, Pneumo- cystis carinii pneumonia, Kaposi sarcoma, persistent swelling of lymph nodes (lymphadenopathy), chronic diarrhea, and wasting. A less severe form of measles, but especially dangerous during the first 3 months of pregnancy because the disease organism can cause heart defects, deafness, mental deficiency, and other permanent damage in the fetus. Patients are prone to the development of dangerous complications, such as bronchopneumonia and other secondary infections caused by staphylococci and streptococci. AGENT DISEASE Chronic wasting disease agent Chronic wasting disease in deer and elk Creuzfeldt-Jakob agent Cruetzfeldt-Jacob disease (CJD), a spongiform encephalopathy in humans Kuru agent Kuru spongiform encephalopathy in humans Mad cow agent Mad cow spongiform encephalopathy, or bovine spongiform encephalopathy (BSE) in cows and humans Scrapie agent Scrapie spongiform encephalopathy in sheep Appendix 5•4 Fungal Diseases DISEASE/ORGANISM DESCRIPTION Actinomycosis “Lumpy jaw in cattle and humans. Histoplasmosis (Histoplasma A variety of disorders, ranging from mild respiratory symptoms or enlargement of liver, capsulatum) spleen, and lymph nodes to cavities in the lungs with symptoms similar to those of tuberculosis. APPENDIX ✦ A-13 Appendix 6 Answers to Chapter Checkpoint and “Zooming In” Questions CHAPTER 1 Answers to Checkpoint Questions 1-6 The three central regions of the abdomen are the 1-1 Study of body structure is anatomy; study of body function epigastric, umbilical, and hypogastric regions; the three is physiology. CHAPTER 3 Answers to Checkpoint Questions 3-6 The two types of organelles used for movement are the 3-1 The cell shows organization, metabolism, cilia, which are small and hairlike, and the flagellum, responsiveness, homeostasis, growth, and reproduction. A-14 ✦ APPENDIX 3-13 An isotonic solution is the same concentration as the fluid 3-11 If diffusion were occurring in the body, the net would be within the cell; a hypotonic solution is less concentrated; a the plasma membrane.

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While individual searchers had identified how a common drug prescribed for patient reports claim benefits for megavitamin therapy buy 20 mg erectafil mastercard, acne could slow the progression of cell death in the brain herbal medicine purchase erectafil 20mg without a prescription, and removal of dental fillings, for in- that causes ALS. The drug, called minocycline, can safely stance, no evidence suggests that these offer any more be taken orally. Ventilation may be administered through a be used more routinely to slow the progression of Lou mouth or nose piece, or through a tracheostomy tube. Or, if environmental toxins are implicat- This tube is inserted through a small hole made in the ed, alternative therapies with the goal of detoxifying the windpipe. Bulbar muscles—Muscles of the mouth and throat responsible for speech and swallowing. While the skills involved are not Kathleen Wright difficult to learn, the physical and emotional burden of Teresa G. Caregivers need to recognize and provide for their own needs, as well as those of the patient, to prevent depression and burnout. Low back pain (LBP) is a common complaint—sec- ond only to cold and flu as a reason why patients seek Expected results care from their family doctor. The slowest disease progression Low back pain is sometimes accompanied by sciatica, is seen in those who are young and have their first symp- which is pain that involves the sciatic nerve and is felt in toms in the limbs. More serious causes of LBP may be accompanied by fever, night pain that awak- ens a person from sleep, loss of bladder or bowel control, Prevention numbness, burning urination, swelling or sharp pain. Description Resources Low back pain is a symptom that affects 80% of the general United States population at some point in life BOOKS with sufficient severity to cause absence from work. Amyotrophic mentioned, it is the second most common reason for vis- Lateral Sclerosis: A Comprehensive Guide to Manage- its to primary care doctors, and is estimated to cost the ment. In addition to dividing low back pain into three cate- gories based on duration of symptoms—acute, sub-acute or chronic—low back pain may be described as: • Localized. In localized pain the patient will feel sore- ness or discomfort when the doctor palpates, or presses on, a specific surface area of the lower back. The pain is perceived in the lower back, but actually is caused by inflammation or disease else- where, such as the kidneys or other structures of or near C the lower abdomen including the intestines, appendix, bladder, uterus, ovaries or the testes. D Causes & symptoms E Acute and sub-acute pain Lumbar strain or sprain is the most common cause of acute low back pain. Pain anywhere along the spine (A) extend to the leg and usually occurs within 24 hours of can be caused by osteoarthritis. Trauma to usually localized, and may be accompanied by muscle back muscles, joints, or disks (C) causes low back pain. Acute strain may follow a sudden (E) can cause pain to run down from the back and buttocks area down a leg. The lumbar vertebrae are distinct from the vertebral alignments or conditions compromising nutri- cervical (neck area) and thoracic (upper back) vertebrae, tion of the supportive structures. Acute low back pain being generally thicker for greater weight bearing support, due to lumbar strain (approximately 60% of sufferers) and resting atop the sacrum, the triangular shaped bone usually resolves with a week with conservative therapies, between the buttocks.

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Salicylates discount erectafil 20mg line, probenecid order 20 mg erectafil free shipping, and sulfonamides inhibit the renal tubular secretion of methotrexate and may dis- Mercaptopurine (6-Mercaptopurine) place it from plasma proteins. Asparaginase inhibits Mercaptopurine (Purinethol) is an analogue of hypo- protein synthesis and may protect cells from methotrex- xanthine and was one of the first agents shown to be ac- ate cytotoxicity by delaying progression from G1-phase tive against acute leukemias. This metabolite is capable of inhibiting the synthesis of the normal purines adenine Gemcitabine and guanine at the initial aminotransferase step and in- Gemcitabine (Gemzar), an antimetabolite, undergoes hibiting the conversion of inosinic acid to the nu- metabolic activation to difluorodeoxycytidine triphos- cleotides adenylate and guanylate at several steps. Some mercaptopurine is also incorporated into DNA in It is the single most active agent for the treatment of the form of thioguanine. The relative significance of metastatic pancreatic cancer, and it is used as a first-line these mechanisms to the antitumor action of mercap- treatment for both pancreatic and small cell lung can- topurine is not clear. The Resistance to mercaptopurine may be a result of de- dose-limiting toxicity is bone marrow suppression. Purine Analogues The plasma half-life of an intravenous bolus injec- Thioguanine (6-Thioguanine) tion of mercaptopurine is 21 minutes in children and 47 minutes in adults. After oral administration, peak Thioguanine is an analogue of the natural purine gua- plasma levels are attained within 2 hours. The drug is nine in which a hydroxyl group has been replaced by a 20% bound to plasma proteins and does not enter the sulfhydryl group in the 6-position. Xanthine oxidase is the primary enzyme involved nisms of cytotoxicity have been proposed for 6-thiogua- in the metabolic inactivation of mercaptopurine. The active metabolite, 56 Antineoplastic Agents 645 2-fluoro-ara-adenosine triphosphate, inhibits various first be activated by pyrimidine nucleoside kinases to enzymes involved in DNA synthesis, including DNA the triphosphate nucleotide ara-cytosine triphosphate polymerase-, ribonucleotide reductase, and DNA pri- (ara-CTP). Unlike most antimetabolites, it is toxic to nonpro- bine is thought to be a reflection of their ability to acti- liferating as well as dividing cells, primarily lymphocytes vate the drug more rapidly (by kinases) than to inacti- and lymphoid cancer cells. The drug is highly active in the treatment of chronic Cytarabine is rapidly metabolized in the liver, kid- lymphocytic leukemia, with approximately 40% of pa- ney, intestinal mucosa, and red blood cells and has a tients achieving remissions after previous therapy with half-life in plasma of only 10 minutes after intravenous alkylating agents has failed. About 80% of a given contributes to fevers and infections in as many as half of dose is excreted in the urine within 24 hours, with less treated patients. When the drug is given by continuous infusion, doses, with agitation, confusion, and visual disturbances. Pentostatin Cytarabine is used in the chemotherapy of acute myelogenous leukemia, usually in combination with an Pentostatin (Nipent, deoxycoformycin) is a purine iso- anthracycline agent, thioguanine, or both. It is less use- lated from fermentation cultures of the microbe ful in acute lymphoblastic leukemia and the lymphomas Streptomyces antibioticus. It has volves inhibition of the enzyme adenosine deaminase, been used intrathecally in the treatment of meningeal which plays an important role in purine salvage path- leukemias and lymphomas as an alternative to meth- ways and DNA synthesis. Intrathecal administration occasionally pro- leukemia, producing remissions in 80 to 90% of patients duces arachnoiditis or more severe neurological toxicity. Fluorouracil (5-fluorouracil, 5-fluorouracil, Efudex, Cladribine Adrucil) is a halogenated pyrimidine analogue that must be activated metabolically. The active metabolite Cladribine (Leustatin) is a synthetic purine nucleoside that inhibits DNA synthesis is the deoxyribonucleotide that is converted to an active cytotoxic metabolite by 5-fluoro-2 deoxyuridine-S -phosphate (FdUMP). Like the other purine Fluorouracil is selectively toxic to proliferating rather antimetabolites, it is relatively selective for both normal than non-proliferating cells and is active in both the G - 1 and malignant lymphoid cells and kills resting as well as and S-phases.

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