By P. Varek. University of North Carolina at Chapel Hill.

Symptoms develop after prolonged fasting cheap lamisil 250 mg with visa antifungal shampoo for jock itch, low-carbohydrate high-fat diets discount lamisil 250mg otc anti fungal acne, exercise, infection, cold exposure, and general anesthesia. In general CPT2 deficiency is more common in males (6:1) with females having milder disease. In children CT is associated with cardiomyopathy and myopathy, and in infants CT with recurrent acute episodes of hypoglycemic encephalopathy with hypoke- tonemia. There are 3 forms: 1) Isolated skeletal muscle involvement, rhabdomyolysis, VACD and myoglobinuria worse than in CPT2 and triggered by fasting or exercise 2) A severe and often fatal childhood form with hypertrophic cardiomyopathy, recurrent episodes of hypoketotic hypoglycemia. The symptoms are variable ranging from a disorder resembling the severe MTP infantile form of VACD to an adult form that resembles CPT2 but with a peripheral sensorimotor neuropathy showing both demyelination and axonal degeneration not described in other disorders of fatty acid metabolism. Other features are retinitis pigmentosa and hypoparathyroidism. The CPT2 gene is located on chromosome 1p32 and the disorder is more common in Ashkenazi Jews. In primary carnitine deficiency there is increased loss of carnitine into the urine. Secondary carnitine deficiency may be due to Mt disorders, renal failure, muscular dystrophy, chronic myopathy, and liver failure. CT is usually associated with nonsense mutations of the genes encoding OCTN2, a high-affinity sodium-dependent carnitine transporter and SLC22A5, an organic cation transporter. VACD is coded by ACADVL on chromosome 17p13, and is associated with at least 60 mutations. The following genes have been associ- ated with this disorder: HADHA and HADHB. Diagnosis Laboratory: In CPT2 the CK is normal between episodes of myoglobinuria, and carnitine is usually normal. During epidoses of rhabdomyolysis, CK is high in all the disorders of free fatty acid metabolism. In CT, plasma and total carnitine levels are less than 5% of normal. Diagnosis is confirmed by carnitine uptake studies in cultured skin fibroblasts. In VACD, diagnosis is ultimately based on demon- stration of reduced palmitoyl-CoA (C16) dehydrogenation in skeletal muscles or cultured fibroblasts. Electrophysiology: Nerve conductions studies are usually normal except in MTP where axonal or demyelinating characteristics are observed. EMG is often normal or shows minimal evidence of myopathy between episodes of myoglobinuria. Muscle biopsy: In CPT2 the muscle biopsy is normal with the exception of a decrease in CPT activity. In CT there is increased lipid droplets in type 1 muscle fibers. In VACD the muscle biopsy may appear normal or show a diffuse increase in lipid in type 1 fibers. Genetic testing: Genetic testing may be helpful in some of the disorders when available. Differential diagnosis – Other disorders of fatty acid metabolism – GSD II – Other metabolic myopathies – Mt myopathies Therapy In CPT2 deficiency, patients should receive a high-carbohydrate low-fat diet with frequent and regularly scheduled meals, and should avoid precipitating 419 factors as described above. Medium-chain triglyceride supplements and avoid- ance of long-chain fatty acids may be helpful, but L-carnitine has no effect because carnitine levels are normal in this disease. In CT with primary carnitine deficiency, L-carnitine supplementation (100–200 mg/kg per day) will restore plasma and liver carnitine levels. Even though muscle carnitine remains low, muscle strength and other symptoms gradually improve. In VACD patients are treated with a high-carbohydrate, low-fat diet, with or without supplementation with medium-chain triglyceride oil, riboflavin, or L-carnitine. This therapy can stop crises and improving heart and skeletal muscle function. In MTP cod liver oil that is high in docosahexanoic acid may improve the neuropathy. In later onset CPT2 and treated CT prognosis is usually good.

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The name cauda equina means horsetail discount lamisil 250mg with mastercard antifungal undercoat, so named because the lowermost spinal nerves slope downward as a bunch before they exit the vertebral column order 250mg lamisil otc antifungal vinegar. CD4+ (CD8+) T lymphocytes these T cells carry a marker on the surface known as a cluster of differentia- tion (CD) marker which can be either CD4 or CD8. The CD4+ T cells, also known as helper T cells, help orchestrate the antibody responses, and the CD8+ T cells—also called cytotoxic (destructive to cells) or suppressor T cells—are involved in cell-mediated immunity that targets infected cells celiac disease inability to digest and absorb a protein found in wheat, resulting in poor absorption of nutri- ents from the foods because of damage to the lining of the small intestine; also called gluten intolerance or non-tropical sprue cervicitis inflammation of the cervix, the part of the uterus that protrudes into the vagina thefacts 155 AS-App 2(151-172) 5/29/02 5:56 PM Page 156 Ankylosing spondylitis: the facts chromosome a thread-like structure within the nucleus of a cell that contains the genes. There are 46 chromo- somes in the nucleus of a human cell; 22 of them are in pairs that are given the numbers 1–22, and the remain- ing two are the X or Y chromosomes (sex chromo- somes) that determine a person’s sex—males have one X and one Y chromosomes, and females have two X chromosomes Chlamydia trachomatis a bacterium that has a predilection to infect the genitourinary tract. Such an infection is the more commonly recognized initiator of reactive arthritis in the US Clostridium difficile bacteria that are normally present in the large intestine, can cause a serious illness called pseudo-membranous colitis in people taking anti- biotics, and can sometimes trigger reactive arthritis collagen and connective tissue a set of fibrous proteins and supporting framework that form the main building blocks of the body, including the internal organs, liga- ments, tendon, cartilage, bone, and skin conjunctivitis commonly known as pink eye; it is an inflammation of the delicate outer membrane that lines the inside of the eyelids and the white of the eye contracture arthritis or prolonged immobility can result in the involved joint becoming less freely moveable. Associated with shortening and wasting of muscles control group in clinical studies the control group, which is given either the standard treatment for a medical condition under study or an inactive substance (called a placebo), is compared with a group given an experimental treatment to find its efficacy for the disease under study coping the psychological processes following any stress- ful situation cortisone a natural hormone made by the adrenal gland. Sometimes wrongly used as a synonym for corti- costeroids 156 thefacts AS-App 2(151-172) 5/29/02 5:56 PM Page 157 Appendix 2: Glossary corticosteroids a group of related compounds which, like cortisone, reduce inflammation and irritation caused by many disease processes, including many forms of arthritis, and skin and bowel diseases Crohn’s disease a chronic inflammatory bowel disease (also called ileitis or regional enteritis), that can affect the entire gastrointestinal tract, though it usually involves the lower small intestine, (the ileum) and the adjacent part of the colon C-reactive protein (CRP) its measurement in the blood can be used to detect or grade inflammation cytokine a soluble protein, produced by white blood cells, that acts as a messenger between cells, either stimulating or inhibiting the activity of various cells of the immune system. There is normally a very delicate balance among the various cytokines cytoplasm a liquid compartment in the cell, sur- rounding the central nucleus. The cytoplasm contains mitochondria and other structures or components responsible for normal protein formation, secretion and other cell functions DEXA bone scan a means of measuring the bone density to detect osteoporosis at a much earlier stage as compared to a standard X-ray. X-ray absorption at two different quantum energies or wavelengths disorder a synonym for disease disability in the context of health experience, a dis- ability is a restriction or lack (resulting from an impair- ment) of ability to perform an activity in the manner or within the range considered normal (see WHO, 1980) distal farther away from the trunk. The opposite is proximal DNA a double-stranded, helical molecule that carries genetic information, primarily present within the nucleus of each cell in plants and animals. It tells the cells exactly what to do and how to perform their functions thefacts 157 AS-App 2(151-172) 5/29/02 5:56 PM Page 158 Ankylosing spondylitis: the facts double-blinded a doubled-blinded trial produces more objective and unbiased results because neither the research investigators nor the study participants know who is receiving the investigational drug and who is receiving the placebo duodenum the first part of the small intestine. An ulcer on its inner lining is called a duodenal ulcer dowager’s hump hump in the upper back (thoracic kyphosis) in an elderly woman with osteoporosis dysentery an infectious disease of the intestine that causes bloody, mucus-filled diarrhea, which can be accompanied by abdominal pain or cramps, fever, and dehydration from excessive diarrhea. It is caused by enteric infections, usually with Shigella, and can some- times trigger reactive arthritis elimination diet requirement that certain foods should not be eaten enteritis an inflammation (irritation) of the small intestine enthesis site of attachment of ligament or tendon to bone enthesitis inflammation of an enthesis enthesopathy an all-inclusive term that covers all abnormalities of an enthesis (e. It is the basic unit of heredity; all information in the genes (genetic information) is passed from parent to child generic name see brand name genetic counseling informing people about genetic facts that may guide them in making a decision based on a knowledge of disease risk. The word genetic refers to any characteristic that is inherited genetic marker a gene that is used to identify an indi- vidual disease or trait, or trace its inheritance within a family thefacts 159 AS-App 2(151-172) 5/29/02 5:56 PM Page 160 Ankylosing spondylitis: the facts genitourinary tract the genitalia, the bladder, and the urethral tube through which the bladder empties gut a word in common use to describe the large and small intestine (see bowel, large intestine; small intestine) handicap in the context of health experience, a handi- cap is a disadvantage for a given individual, resulting from an impairment or a disability, that limits or pre- vents the fulfillment of a role that is normal (depend- ing on age, sex, and social and cultural factors) for that individual (see WHO, 1980) H2-blockers medicines such as cimetidine (Tagamet), ranitidine (Zantac), or famotidine (Pepcid), used to treat acid indigestion, heartburn, and ulcer pain. They are so called because they act by blocking histamine-2 signals to reduce the amount of acid produced by the stomach heartburn symptoms caused by stomach acid flowing back into the esophagus Helicobacter pylori a corkscrew-shaped bacterium found in the stomach that can predispose to stomach and duodenal ulcers. Previously called Campylobacter pylori heterozygote and homoozygote an individual inherits a set of two alleles for each HLA locus from his or her parents. For instance, an individual may inherit HLA- B27 from one parent and HLA-B8 from the other. Most individuals do not inherit the same gene (belong- ing to a locus) from both parents, and are said to be heterozygotes. HLA-B27, from both parents is homozygous for HLA-B27 HLA human leucocyte antigens. These are cell surface proteins, detected by blood testing, that vary from person to person. They are also called tissue antigens or histocompatibility antigens because ideally organ donors and recipients must have compatible HLA; 160 thefacts AS-App 2(151-172) 5/29/02 5:56 PM Page 161 Appendix 2: Glossary otherwise the transplanted organ is recognized as non- self (‘foreign’) and is rejected. HLA are related to the workings of the immune system; they present self- and foreign-derived (e. They are of two broad types, called class I and class II HLA. Their genes are located on chromosome 6; the loci are given the letters A, B, C, D, and so on HLA-B27 an HLA class I molecule that has been assigned the number 27; its gene is present at the B locus. There are quite a few HLA antigens that confer susceptibility to certain diseases: HLA-B27 to AS, and HLA-DR4 to rheumatoid arthritis, for example hydrotherapy physiotherapy in a pool (usually heated) idiopathic of unknown cause or explanation ileum the major part of the small intestine (see small intestine) ilium (or iliac bone) major bony component of the pelvis. There is one on each side, joined to the sacrum via the right and left sacroiliac joints impairment in the context of health experience, an impairment is any loss or abnormality of psychological, physiological or anatomical structure or function (WHO, 1980) incidence the rate of occurrence of some event, such as the number of individuals who get a disease divided by a total given population, per unit of time (usually per year).

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