By H. Rhobar. Saint Anthony College of Nursing.
Children with mal recessive genetic condition that is found in all ethnic Canavan disease usually experience sleep disturbances order 100 mg mycelex-g fast delivery antifungal antibacterial soap, groups cheap mycelex-g 100mg overnight delivery anti fungal wash for horses, but is most common in people of Ashkenazi irritability, and swallowing and feeding difficulties after (Eastern European) Jewish descent. As the child with Canavan dis- ease grows older there is a deterioration of mental and Genetic profile physical functioning. The speed at which this deteriora- Canavan disease is an autosomal recessive genetic tion occurs will vary for each affected person. A person with Canavan disease has changes with Canavan disease are mentally retarded and most will (mutations) in both of the genes responsible for produc- never be able to sit, stand, walk or talk, although they ing the enzyme aspartoacylase and has inherited one may learn to laugh and smile and reach for objects. Canavan disease ASPA gene that can cause Canavan disease, although can cause vision problems and some people with there are three common gene changes. People gene is changed it does not produce any aspartoacylase or with Canavan disease typically have disproportionately produces reduced levels of this enzyme. Reduced production of aspartoacylase results Diagnosis in lower than normal amounts of this enzyme in the brain and nervous system. Aspartoacylase is responsible for Diagnostic testing breaking down a substance called N-acetylaspartic acid (NAA). When the body produces decreased levels of Canavan disease should be suspected in a person aspartoacylase, a build-up of NAA results. This results in with a large head who has poor muscle control, a lack of the destruction of the white matter of the brain and nerv- head control and a destruction of the white matter of the ous system and causes the symptoms of Canavan disease. Parents who have a child with Canavan disease are A diagnosis of Canavan disease can usually be confirmed called carriers, since they each possess one changed by measuring the amount of NAA in a urine sample since ASPA gene and one unchanged ASPA gene. Carriers usu- a person with Canavan disease typically has greater than ally do not have any symptoms since they have one five to ten times the normal amount of NAA in their unchanged gene that can produce enough aspartoacylase urine. Each child born to par- by measuring the amount of aspartocylase enzyme pres- ents who are both carriers for Canavan disease has a 25% ent in a sample of skin cells. Detection of an ASPA gene alteration in a person with Canavan disease can confirm an uncertain diagnosis and help facilitate Demographics prenatal diagnosis and carrier testing of relatives. Although Canavan disease is found in people of all Although there are a number of different ASPA gene ethnicities, it is most common in Ashkenazi Jewish indi- changes responsible for Canavan disease, as of 2001, viduals. Approximately one in 40 Ashkenazi Jewish clinical laboratories typically test for only two to three individuals are carriers for Canavan disease and approxi- common gene changes. Two of the ASPA gene changes 186 GALE ENCYCLOPEDIA OF GENETIC DISORDERS KEY TERMS Amniocentesis—A procedure performed at 16-18 chromosomes arranged into 23 pairs. Either the fluid itself or cells from Deoxyribonucleic acid (DNA)—The genetic mate- the fluid can be used for a variety of tests to obtain rial in cells that holds the inherited instructions for information about genetic disorders and other med- growth, development, and cellular functioning. DNA testing—Analysis of DNA (the genetic com- Amniotic fluid—The fluid which surrounds a devel- ponent of cells) in order to determine changes in oping baby during pregnancy. Amniotic sac—Contains the fetus which is sur- Enzyme—A protein that catalyzes a biochemical rounded by amniotic fluid. The person may pass the abnormal gene on to found on a precise location on a chromosome. Chorionic villus sampling (CVS)—A procedure Prenatal testing—Testing for a disease such as a used for prenatal diagnosis at 10-12 weeks gesta- genetic condition in an unborn baby. These cells are then tested for tion of body structures and controlling the basic chromosome abnormalities or other genetic dis- functions of the human body. White matter—A substance found in the brain and Chromosome—A microscopic thread-like structure nervous system that protects nerves and allows found within each cell of the body and consists of a messages to be sent to and from the brain to the var- complex of proteins and DNA. Carrier testing for the three the other ASPA gene change is common in those of other common ASPA gene mutations identifies approximately ethnic backgrounds. Testing for other types of changes in 97–99% of Ashkenazi Jewish carriers and 40–55% of the ASPA gene is only done on a research basis. Carrier testing of individuals without a family history Carrier testing of Canavan disease is only recommended for people of DNA testing is the only means of identifying carri- Ashkenazi Jewish background since they have a higher risk ers of Canavan disease. As of 1998, both the American College of be first performed on the affected family member.
In addition order 100mg mycelex-g free shipping fungus gnats bacillus thuringiensis, the population of patients with neck pain includes a large and heterogeneous group often including patients with headache and other pain symptoms 100mg mycelex-g mastercard antifungal generic drugs. Different Complementary therapies in neurology 46 outcome parameters have been employed in these studies, making it difficult to reach specific conclusions about the efficacy of SMT in the treatment of neck pain. There are a few case reports of patients with cervical disc herniations who have responded to 54 manipulation of the cervical spine, but no large controlled trials to support these observations. Fiftytwo subjects were treated with cervical manipulation while 48 subjects were randomized to mobilization procedures. There were no significant pretreatment differences between the two groups with respect to history of neck pain or level of disability as measured by the Pain Disability Index. The patients received either rotational manipulation (high-velocity, low-amplitude thrust) or mobilization in the form of muscle energy technique. The results showed that both treatments increased range of motion, but manipulation had a significantly greater effect on pain intensity, with 85% of the manipulated patients and 69% of the mobilized patients reporting pain improvement immediately after treatment. There have been two other reports of an increase in cervical rotation and a decrease in neck pain following manipulation when compared with 55,56 analgesics or no treatment. All three interventions demonstrated meaningful improvement in all parameters, with improvement maintained at both 4- and 12-month follow-up. However, since there was no placebo intervention or non-treatment control group, the authors cautioned that responses may have been due to a placebo effect or simply the passage of time. Both of the exercise groups were found to perform better than the group that was treated with only spinal manipulation. This study argues for the incorporation of additional rehabilitation procedures along with spinal manipulation in any program of care, but does not permit the determination of the effect of spinal manipulation independent of other interventions. As described previously, chiropractors typically employ several interventions (potentially including exercise and activity recommendations) in combination with manipulation. From this study, it would appear that such a multimodal therapeutic approach is appropriate. They compared chiropractic SMT with needle acupuncture and NSAID medication, demonstrating that spinal manipulation was the only intervention that achieved statistically significant improvements in neck pain. The authors reported an Chiropractic 47 improvement of 33% in neck pain on a visual analog scale and 25% in scores on the Neck Disability Index. The studies on chiropractic treatment of neck pain provide at least preliminary evidence of effectiveness relative to several other interventions. However, it is not at all clear that there is any relative advantage over intensive physical therapeutic approaches. Several additional important studies of spinal manipulation for neck symptoms have provided at least some promising results in this regard. Headaches Headache is one of the more common reasons for seeking care from practitioners of 3 alterna-tive medicine. It has been estimated that as many as 35% of all patients presenting to a chiropractor have complaints of headaches, often in conjunction with back 6,12 or neck pain. There have been nine published clinical trials of manipulation for various forms of headache, several of which specifically investigated chiropractic treatment in comparison with various other interventions. This study was small and not of high quality, but it did show improvement in all groups of patients. The group treated by chiropractors was found to report significantly less pain with each headache (while all groups of patients showed similar improvement in frequency of headaches). Each group was assigned to 8 weeks of treatment, with the principal outcome time-point being 4 weeks after conclusion of treatment. Clinically important improvements were observed in all three study groups over time. They also noted that there was no advantage to combining amitriptyline with spinal manipulation. It is noteworthy that the effect of manipulation appeared to outlast the treatment period as opposed to the effects of amitriptyline alone. There was no sham treatment group, nor were there patients receiving no treatment.
In Hounsfield units generic mycelex-g 100mg without a prescription definition of fungus mold, bone is +1000 cheap 100 mg mycelex-g with amex fungus gnats dwc, water is 0, fat is −1000, and other tissues fall within this scale, depending on the machine settings. Head: Evaluation of tumors, subdural and epidural hematomas, atrioventricular (A-V) malformations, hydrocephalus, and sinus and temporal bone pathology. Initial test of choice for trauma; may be superior to MRI in detecting hemorrhage within first 24–48 h Abdomen: Images virtually all intraabdominal and retroperitoneal organs or disease processes. Good accuracy with abscesses, but ultrasound may show smaller collections ad- jacent to the liver, spleen, or bladder. IV contrast usually given, so check creatinine level; when using a water-soluble contrast (Tomocat, others) to visualize the gut, the patient must receive an oral contrast beforehand. Retroperitoneum: Useful for evaluating pancreatitis and its complications; pancreatic masses; nodal metastasis from colon, prostate, renal, or testicular tumors; adrenal masses (>3 cm suggestive of carcinoma); psoas masses; aortic aneurysms 15 Imaging Studies 331 Pelvis: Staging and diagnosis of bladder, prostate, rectal, and gynecological carcinoma Mediastinum: Masses, ectopic parathyroids Neck: Work-up of neck masses, abscesses, and other diseases of the throat and trachea Chest: Able to find 40% more nodules than whole lung tomograms, which demonstrate 20% more nodules than plain chest x-ray. Although calcification is suggestive of benign dis- ease (eg, granuloma), no definite density value can reliably separate malignant from benign lesions. Useful in differentiating hilar adenopathy from vascular structures seen on plain chest x-ray Spine: MRI generally preferred over CT. However, rare conditions, contraindication to MRI, or artifact from metal may make the CT the preferred test. SPIRAL (HELICAL) CT SCAN Spiral CT can be used for any type of imaging (not commonly used for brain). This minimizes motion artifact and allows for cap- turing a bolus of contrast at peak levels in the region being scanned. These contrast-enhanced scans allow detailed 3-D reconstruction and angiographic evaluations. The term spiral/helical is derived from the fact that the tube spins around the pa- tient while the table moves. Examples for uses of this technology include diagnosis of PE, pretrans- plant angiography, evaluation of flank pain and determination of kidney stones (largely re- placing emergency IVP), and rapid evaluation of trauma. MAGNETIC RESONANCE IMAGING (MR OR MRI) How It Works Although the physics of MRI is beyond the scope of this section, certain key concepts are essential to interpreting studies generated by this technology. MRI uses measurements of the magnetic movements of atomic nuclei to delineate tissues. Specifically, when nuclei, such as hydrogen, are placed in a strong magnetic field, they resonate and emit radio signals when pulsed with radio waves. T1, or longitudinal relaxation time, is the measurement of magnetic vector changes in the z axis during the relaxation pause. T2, or transverse relaxation time, is the magnetic vector changes in the x-y plane. Each tissue, normal or pathologic, has a unique T1 and T2 for a given MRI field strength. An image is T1-weighted if it depends on the differences in T1 measurements for visual contrast, or T2-weighted if the image depends on T2 measurements. Partial saturation (PS) and inversion recovery (IR) are two newer pulse sequences. How to Read an MRI SE T1-Weighted Images: Provide good anatomic planes due to the wide variances of T1 values among normal tissues. T2-weighted images provide the best detection of pathology and a decreased visualization of normal tissue anatomy. MRI is superior to CT for imaging of brain, spinal cord, musculoskeletal soft tissues, adrenal and renal masses, and areas of high CT bony artifact. Advantages • No ionizing radiation • Display of vascular anatomy without contrast • Visualization of linear structures: Spine and spinal cord, aorta, and cava • Visualization of posterior fossa and other hard to see CT areas • High-contrast soft tissue images Disadvantages • Claustrophobia due to confining magnet (Newer open MRI scanners may obviate this problem. Uses of MRI MRI is very sensitive to motion artifact; anxious or agitated patients may require sedation. Intramuscular glucagon may be used to suppress intestinal peristalsis on abdominal studies. If metallic eye fragments are possible, a screening CT of the orbits should be obtained prior to any MRI examination. It is generally contraindicated in patients with intracranial aneurysm clips, intraocular metallic fragments, and pacemakers. Abdomen: Useful for differentiating adrenal lesions, staging tumors (renal, GI, pelvic), evaluation of abdominal masses, and virtually all intraabdominal organs and retroperitoneal structures.
Interferon Alfa-2b Carboplatin Interferon alfa-2b (Intron A) is a recombinant DNA Carboplatin (Paraplatin) is an analogue of cisplatin buy mycelex-g 100mg online antifungal while pregnant. Its product derived from the interferon alfa-2b gene of hu- plasma half-life is 3 to 5 hours generic mycelex-g 100 mg with visa antifungal ear drops over the counter, and it has no signiﬁcant man white blood cells. Renal excretion is the major route of tion involves binding to a plasma membrane receptor drug elimination. Its serum half-life is Despite its lower chemical reactivity, carboplatin 2 to 3 hours after parenteral administration. How- are resistant to cisplatin are cross-resistant to carbo- ever, it has minimal antitumor activity in most human platin. Remissions lasting a few months have been ob- The major advantage of carboplatin over cisplatin is served in 10 to 20% of patients with lymphomas, multi- a markedly reduced risk of toxicity to the kidneys, pe- ple myeloma, melanoma, renal cell carcinoma, and ripheral nerves, and hearing; additionally, it produces ovarian carcinoma. It is, however, more myelo- The adverse effects of interferon alfa-2b include fever suppressive than cisplatin. Other adverse effects include and a ﬂulike syndrome of muscle ache, fatigue, headache, anemia, abnormal liver function tests, and occasional al- anorexia, and nausea. Mitoxantrone Interleukins Aldesleukin Mitoxantrone (Novantrone) is a synthetic anthraquinone that is structurally and mechanistically related to the an- Aldesleukin (IL-2, Proleukin) is a human recombinant thracyclines. It is cross-resistant with dox- include multiple effects on the immune system, such as 56 Antineoplastic Agents 653 enhancement of T-lymphocyte cytotoxicity, induction of NEW DRUG THERAPIES FOR CANCER natural killer cell activity, and induction of interferon- production. Aldesleukin has been used alone and in Imantinib combination with lymphokine activated killer (LAK) cells or tumor-inﬁltrating lymphocytes (TIL). Imantinib mesylate (Gleevec) is a rationally designed The drug produces remissions in 15% of patients inhibitor of the tumor-speciﬁc bcr-abl kinase. The with renal cell carcinoma, with median durations of re- Philadelphia chromosome, present in nearly all patients mission of 18 to 24 months. The bcr-able kinase is therefore a verse effect is severe hypotension in as many as 85% of unique drug target in leukemic cells, and imantinib se- patients, which may lead to myocardial infarctions, pul- lectively and potently inhibits this kinase. This hypotension is thought CML patients are achieved with high frequency and to be due to a capillary leak syndrome resulting from very low toxicity, and this compound may become a extravasation of plasma proteins and ﬂuid into ex- front-line agent for treating this cancer. Patients drug resistance has already been observed in the clinic with signiﬁcant cardiac, pulmonary, renal, hepatic, or as a result of mutations in the bcr-abl kinase, and this CNS conditions should not receive therapy with magic bullet does not appear to be curative for CML aldesleukin. Extension of the use of imantinib to other tu- and vomiting, diarrhea, stomatitis, anorexia, altered mor types with overexpression of c-kit kinase or mental status, fevers, and fatigue. CELLULAR GROWTH FACTORS Herceptin Filgrastim The introduction of herceptin (Trastuzumab) into clin- Filgrastim (Neupogen) is a human recombinant granu- ical practice for the treatment of breast cancer marks a locyte colony–stimulating factor (rG-CSF) produced major advance in the use of monoclonal antibody can- using recombinant DNA technology. Herceptin is a humanized antibody di- sor hematopoietic cells in the bone marrow by binding rected against the HER-2 antigen that is overexpressed to speciﬁc receptors that stimulate cellular proliferation on the tumor cell surface in approximately 25% of and differentiation into neutrophils. HER-2/neu/erbB2 overexpres- some neutrophil functions, including phagocytosis and sion marks an aggressive estrogen receptor–negative antibody-dependent killing. Therefore, a therapeutic agent Filgrastim is used to accelerate recovery of neu- selective for this target is particularly valuable. Herceptin use is associated with in- adverse reaction being mild to moderate bone pain sec- fusion- related hypotension, ﬂushing and bronchocon- ondary to stimulation of bone marrow proliferation. Herceptin appears to sensitize patients to cardiotoxic- ity, an important concern in patients also receiving Sargramostim doxorubicin. Sargramostim (GM-CSF, Leukine, Prokine) is a human recombinant granulocyte and macrophage colony– Iressa stimulating factor that stimulates the production and po- tentiates the function of both granulocytes and macro- Iressa (ZD1839) is an orally active tyrosine kinase in- phages from hematopoietic progenitor cells. It is used to hibitor selective for the epidermal growth factor (EGF) accelerate bone marrow repopulation after high-dose receptor tyrosine kinase. Iressa is undergoing clinical chemotherapy, radiation therapy, and bone marrow trans- trials in the treatment of various solid tumors, including plantation. Adverse effects associated with sargramostim head and neck cancer, breast cancer and non-small cell use include bone pain (similar to that of ﬁlgrastim), fa- lung cancer. The major A summary of the principal clinical uses of most of side effects include diarrhea and skin rash. Bone mar- the drugs mentioned in this chapter can be found in row toxicity has not been a dose-limiting problem. The nitrogen mustard with the broadest spectrum account for the fact that differences in the spectrum of antitumor activity in its class is of antitumor activity and clinical indications differ (A) Ifosfamide for agents within the same class. Ifosfamide also has (B) Cyclophosphamide a broad spectrum of antitumor activity although it is (C) Mechlorethamine not as broad as that of cyclophosphamide. The effectiveness of chemotherapy in human cancer was the use of melphalan is limited because a substituted phenyl which agent in trophoblastic choriocarcinoma in ring in the molecule reduces its reactivity.
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