Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

3 female condoms, or "vaginal pouches" as they are called by the FDA (US Food and Drug Administration) are expected to be marketed in the US in 1991, the Bikini Condom from International Prophylactics Inc., Princeton NJ; Women's Choice from M.D. Personal Products, Hayward CA; and Reality from Wisconsin Pharmacal Co., Jackson, WI. The advantages of the female condoms are control for women over contraception and sexually transmitted diseases (STDs), availability over the counter, no need for spermicides, thicker than male condoms with better barrier effectiveness and less breakage and slippage, and reported heightened sensation for women. The disadvantages are difficulty for inexperienced women to insert, unappealing appearance of part of device protruding from vagina, interference with foreplay, cost of $1.50-$2.40 each, few reports of vaginal irritation. The Bikini Condom looks like a G-string panty with a condom pouch that is automatically introduced into the vagina with coitus. Bikini had a breakage rate of 0.5%, compared to 1-2% for male condoms, an acceptance level of 56%, and can be used 5-10 times. It effectively blocked STDs and HIV (human immunodeficiency virus). Women's Choice has a 2-inch diameter flexible ring that covers the introitus, and a thickened dome of latex resembling a diaphragm at the deep end, lubricated with silicone. 20% of women reported increased clitoral and labial sensation during use. It prevented transfer of semen acid phosphatase, and enzyme smaller than STDs and viruses. Reality condom is a polyurethane sheath with an inner ring similar to a diaphragm, but fitting more loosely, and an outer ring covering part of the vulva, all inserted with an applicator. It had a leakage rate of 0.6% compared to 3.5% for male condoms, and a slippage rate of 2.7% compared to 8.1% slippage and breakage of male condoms. 5% of users reported vaginal irritation. 65% of women and 80% of men liked Reality. Generally people in female condom trials either strongly liked or disliked them. They are so novel that they appeal to people with an "open mind," and to those with experience with condoms and other barrier methods.
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PMID:Female condoms scheduled to reach U.S. market this year. 1231 52

Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive. It is caused by mutations in EPG5, which encodes a protein involved in the autophagy pathway. Although myopathy is part of the syndrome, few publications have described the muscle pathology. We present a detailed morphological analysis in a boy with Vici syndrome due to a novel homozygous one-base deletion in EPG5 (c.784delA), and we review the histopathological findings from previous reports. Muscle biopsy was performed at three months of age and demonstrated small vacuolated fibers, frequently with internal nuclei, and expressing developmental and fast myosin isoforms. There was an increase in acid phosphatase activity in the small fibers, which also showed LAMP-2 upregulation, glycogen accumulation and contained numerous p62-positive inclusions and some lipid droplets. Electron microscopy demonstrated hypoplastic fibers with massive glycogen accumulation and extensive disorganization of the myofibrils. This study expands the muscle pathological features of Vici syndrome and demonstrates a pattern of vacuolar myopathy with glycogen storage and immature, hypoplastic and atrophic muscle fibers. Increased lysosomes and accumulation of p62 are in line with a disturbance of the autophagic pathway as an essential part of the pathogenesis.
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PMID:Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature. 2862 65


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