Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of an 11-year-old boy with external ophthalmoparesia, tetraparesia and bilateral eyelid ptosis is reported. He was 7-years-old when first symptoms appeared. Anticholinesterasic drugs were used. He was submitted to muscle biopsy. The results of histochemistry analysis showed storage of granulous material at the subsarcolemmal region of muscle fibers by SDH. Increase in the number of mitochondria with electron dense bodies was found at electron microscopy. Anticholinesterasic drugs administration was interrupted and consequently he got worse, and bouts of dyspnea occurred. Due to this worsening anticholinesterasic agents were reintroduced together with prednisone, and he improved. Due to clinical and histological expressions we think it is possible that morphological mitochondrial alterations may occur also in myasthenia gravis.
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PMID:Mitochondrial dysfunction in myasthenia gravis. Report of a case. 261 15

Conventional, generally accepted methods of hemorrhoidectomy as the methods of choice in the therapy of IIIrd and IVth degree hemorrhoids often involve problems of attaining sufficient mucosa preservation or are technically highly complex. A new surgical procedure, stapler hemorrhoidectomy, is less risky, permits the preservation of more mucosa, and takes significantly less time (only 5 to 15 minutes) than conventional procedures. Especially important is the high degree of acceptance on the part of patients and operators. The operation is based on the principle of a mucosectomy at least 2 cm above the dentate line. A purse-string suture placed 3-4 cm above the dentate line is tied around the stapler shaft (Ethicon Endosurgery SDH 33). Then the resection and stapling of the mucosa are carried out. This procedure effectively reduces mucosa and blocks the end branches of the upper rectal artery, thus stopping venous and arterial blood flow of the hemorrhoidal plexus. During the period April-September 1998 we treated 42 patients with an average age of 55.5 years using stapler hemorrhoidectomy. We treated IIIrd-IVth degree hemorrhoids (in 29% of cases), partial (in 22% of cases) and circular mucosa prolapse (in 49% of cases). The complication rate was 14%; we observed one case of bleeding, two submucosal hematomas, one partially interrupted suture, one short incontinence (I degree after Parks), and one partial recurrence. All complications occurred at the start of application of the new method and could be brought under control with no difficulties; after a short time the patients were without any discomforts whatsoever. In particular, post-operative pain was generally slight, measuring by means of the visual analog scale (VAS) ranging from 0-100. From the day of the operation until the 21st postoperative day the pain score ranged from 0 to 35. The use of analgetics was significantly less, with 50% of the patients not using analgetics on and following the 1st postoperative day. First experiences with stapler hemorrhoidectomy have shown that patients with distinct hemorrhoids and/or mucosa prolapse benefit greatly by this procedure, when indications and operative techniques are correctly used.
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PMID:[Stapler hemorrhoidectomy. A new alternative to conventional methods]. 1047 84

The circular stapled procedure for mucosal prolapse of the rectum takes less time, is a less risky, less painful rectal procedure, and permits the preservation of more mucosa than conventional procedures. We compared retrospectively the early outcome of the circular transanal stapled procedure (n = 13), for incomplete rectal mucosal prolapse associated with outlet obstruction, with the current standard Milligan-Morgan procedure (n = 15). Under spinal anaesthesia, patients underwent a standardised diathermy perianal operation, or had a circumferential doughnut of mucosal prolapse at least 2 cm above the dentate line, using a circular end-to-end stapler (Ethicon Endosurgery SDH 33). All patients received the same preoperative analgesic and laxative regimens. The operating time for the stapled group was shorter (22-58 min, median 38) versus (42-79 min, median 68). The use of analgesics was significantly less, with 85% of the patients not using analgesics on and following the first postoperative day. The hospital stay was significantly shorter for the stapled group (3-5 days, median 3.2 versus 7-14 days, median 12.2). Constipation before procedure was improved in both groups. Early and late complications, and the functional outcome, measured by rectoanal manometry, appeared to be similar in short-term follow-up. However, the long-term results of recurrence, symptomatic and functional outcome, have yet to be evaluated in the extended follow-up.
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PMID:Circular transanal stapled procedure for incomplete rectal prolapse associated with outlet obstruction versus conventional procedure. 1675 21

Mitochondrial DNA depletion syndrome (MDS) is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, nonspecific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature and a history of migraine, endometriosis, Crohn's disease, C-cell carcinoma of the thyroid gland, and a family history positive for mitochondrial disorder (2 sisters, aunt, niece), developed day-time sleepiness, exercise intolerance, and myalgias in the lower-limb muscles since age 46y. She slept 9-10 hours during the night and 2 hours after lunch daily. Clinical exam revealed sore neck muscles, bilateral ptosis, and reduced Achilles tendon reflexes exclusively. Blood tests revealed hyperlipidemia exclusively. Nerve conduction studies, needle electromyography, and cerebral and spinal magnetic resonance imaging were noninformative. Muscle biopsy revealed detached lobulated fibers with subsarcolemmal accentuation of the NADH and SDH staining. Realtime polymerase chain reaction revealed depletion of the mtDNA down to 9% of normal. MDS may be associated with a mild phenotype in adults and may not significantly progress during the first year after onset. In an adult with hypersomnia, severe tiredness, exercise intolerance, and a family history positive for mitochondrial disorder, a MDS should be considered.
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PMID:Adult mitochondrial DNA depletion syndrome with mild manifestations. 2388 12