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Nippon Geka Gakkai Zasshi. 1998 Dec;99(12):868-70.
[Mitral regurgitation due to mitral valve prolapse associated with epidermolysis bullosa: case report]

[Article in Japanese]

Nosaka S, Yamauchi M, Sasaki T, Hanada T, Tamura K.

First Department of Surgery, Shimane Medical University, Izumo, Japan.

Mitral valve prolapse (MVP) has been associated with several connective tissue disorders, including Marfan's syndrome, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum. We present a case of MVP in a patient with epidermolysis bullosa. The authors are aware of only one previously reported case of this association. A 49-year-old man with a history of epidermolysis bullosa since childhood was admitted to our institution due to dyspnea on effort. On general examination he was observed to have alopecia, deformities in his nails, and fusions of his fingers. Transesophageal echocardiography confirmed the presence of MVP. In addition, coronary angiography showed three-vessel disease. Mitral valve replacement (ATS valve 25 mm) and coronary artery bypass grafting (left internal thoracic artery-LAD) were performed. The resected mitral valve (anterior leaflet) contained the area of the myxomatous lesion histologically. The pathological mechanism of epidermolysis bullosa is thought to be the destruction of collagen fibers due to increased levels of enzyme collagenase. Therefore there may be a common cause of MVP and epidermolysis bullosa based upon an abnormality of collagen metabolism.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10063502&dopt=Abstract

Minerva Ginecol. 1998 Dec;50(12):545-7.
[A case of Leydig cell virilizing tumor of the ovary]

[Article in Italian]

Simonetti C, Di Vagno G, Cazzolla A, Melilli G, Di Gesu G, Cormio G, Selvaggi L.

II Clinica Ostetrica e Ginecologica, Universita degli Studi, Bari.

A case of Leydig cell virilizing tumor of the ovary in a 68 year old woman, with clinical signs of virilization, clitoromegaly and androgenic alopecia is described. An RMN of encephalon and an abdominal ultrasound were normal. Following total abdominal hysterectomy and bilateral salpingo-oophorectomy, the patient had regression of hirsutism, and plasma testosterone dropped to normal level.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10069169&dopt=Abstract

mc.duke.edu

Complete DiGeorge syndrome is a fatal condition in which infants have no detectable thymus function. The optimal treatment for the immune deficiency of complete DiGeorge syndrome has not been determined. Safety and efficacy of thymus transplantation were evaluated in 12 infants with complete DiGeorge syndrome who had less than 20-fold proliferative responses to phytohemagglutinin. All but one had fewer than 50 T cells/mm3. Allogeneic postnatal cultured thymus tissue was transplanted. T-cell development was followed by flow cytometry, lymphocyte proliferation assays, and T-cell receptor Vbeta (TCRBV) repertoire evaluation. Of the 12 patients, 7 are at home 15 months to 8.5 years after transplantation. All 7 survivors developed T-cell proliferative responses to mitogens of more than 100 000 counts per minute (cpm). By one year after transplantation, 6 of 7 patients developed antigen-specific proliferative responses. The TCRBV repertoire showed initial oligoclonality that progressed to polyclonality within a year. B-cell function developed in all 3 patients tested after 2 years. Deaths were associated with underlying congenital problems. Risk factors for death included tracheostomy, long-term mechanical ventilation, and cytomegalovirus infection. Adverse events in the first 3 months after transplantation included eosinophilia, rash, lymphadenopathy, development of CD4-CD8- peripheral T cells, elevated serum immunoglobulin E (IgE), and possible pulmonary inflammation. Adverse events related to the immune system occurring more than 3 months after transplantation included thrombocytopenia in one patient and hypothyroidism and alopecia in one other patient. Thymic transplantation is efficacious, well tolerated, and should be considered as treatment for infants with complete DiGeorge syndrome.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12702512&dopt=Abstract [PubMed - in process]

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