Dominant transmission of multiple uterine and cutaneous smooth-muscle tumors is seen in the disorder multiple leiomyomatosis (ML). We undertook a genomewide screen of 11 families segregating ML and found evidence for linkage to chromosome 1q42.3-q43 (maximum multipoint LOD score 5.40). Haplotype construction and analysis of recombinations permitted the minimal interval containing the locus, which we have designated "MCUL1," to be refined to an approximately 14-cM region flanked by markers D1S517 and D1S2842. Allelic-loss studies of tumors indicated that MCUL1 may act as a tumor suppressor. Identification of MCUL1 should have wide interest, since this gene may harbor low-penetrance variants predisposing to the common form of uterine fibroids and/or may undergo somatic mutation in sporadic leiomyomata.
Lupus pernio of the nose is the most characteristic cutaneous lesion of sarcoidosis. It is cosmetically disfiguring and can be the cause of significant morbidity. In particular, the affected skin is often red or purple due to increased vasculature. It is particularly resistant to both surgical and medical therapy. We describe a patient with lupus pernio affecting her nose, which showed a dramatic improvement following treatment with the pulse dye laser (PDL). A biopsy taken after treatment showed the continued presence of sarcoidal granulomas. We therefore feel that treatment with the PDL is an effective tool in improving the cosmetic appearance of lupus pernio, but does not influence the underlying disease process.
Anthony Babington was 24 and a company commander in the 1st Dorset Regiment when he was wounded by shrapnel in Holland early in the morning of 2 November 1944, in the aftermath of the Arnhem campaign. His story is in his own writings 1,2 and in his army medical records 3 , both quite exceptional in detail and perception. CASE HISTORY He was felled by the shell burst and briefly unconscious, and had sustained a left parietal penetrating injury which made him mute and hemiplegic. He was evacuated by stretcher, ambulance and plane. 'During the flight I felt something stiff and cold on the right side of my chest. I puzzled about it for a while before it dawned on me that it was my right arm, heavy, insensate and quite paralysed. .. At one point I thought the end had come. . .' 2. On the evening of the same day he reached the Military Hospital for Head Injuries at St Hugh's College, Oxford. X-rays showed 'a large MFB [metal foreign body] deep in the left parietal lobe just above the ventricular roof but may impinge on it.' On 3 November Major C A Calvert 4 operated on a semiconscious, globally aphasic man who had a right hemiplegia, hemianaesthesia, and hemianopia (Figure 1): '.. . wound stank horribly. .. contamination with hairs and dura down brain track-marked oedema. .. toothpaste brain and clot. .. bone chips indrawn about 2 cm, metallic body about 4 cm from cortex, inner end about 6 cm. .. debrided. .. many toothpaste pockets extending laterally from track. .. area of cortex destruction about 4 cmÂ4 cm. .. gush of CSF. .. ventricle into which MFB had protruded. .. 5000 U penicillin. .. dura left open. .. drain. . .' 3. After the operation Anthony Babington recalled 1,2 gesticulating with his left hand to indicate that he needed treatment for head pain, something to drink, or a urine bottle. When asked to write his home address with his left hand 'I knew exactly what I intended to write but I was dismayed to find myself drawing a series of short and very crooked lines. .. when shown a newspaper I could see letters but not understand them. .. might have been Chinese. 'I woke one morning feeling slightly better. The night sister said ''You are over the worst and out of danger. .. The doctors think you might get back a little movement in your right side, in the leg at any rate. But I am afraid they think it unlikely that you will ever be able to speak again''.'
For reconstruction of the pelvic floor after sacrectomy, Localio et al. 6 advocated obliteration of the dead space by tight closure of the gluteus maximus. However, if the resection has been extensive, the residual soft tissue is often insufficient for adequate closure. In these circumstances Santora et al. 1 suggest that prosthetic mesh should be used prophylactically to reconstruct the pelvic floor and reduce the likelihood of sacral herniation 1. Symptomatic sacral hernia following sacrectomy is a rare but important complication, and during the initial surgical resection an attempt should be made to close the soft tissues adequately. Like other groups we have found that polypropylene mesh offers a simple, adaptable, and effective method of hernia repair and pelvic floor reconstruction.
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