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B Vignes

Publications and source records attributed to B Vignes.

At least 19 recordsLinked to original sources

Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements.

We have characterised a subtelomeric rearrangement involving the short arm of chromosome 16 that gives rise to alpha-thalassaemia by deleting the major, remote regulatory element controlling alpha-globin expression. The chromosomal breakpoint lies in an Alu family repeat located only approximately 105 kb from the 16p subtelomeric region. The broken chromosome has been stabilised with a newly positioned telomere acquired by recombination between this 16p Alu element and a closely related subtelomeric Alu element of the Sx subfamily. It seems most likely that this abnormal chromosome has been rescued by the mechanism of telomere capture which may reflect a more general process by which subtelomeric sequences are normally dispersed between chromosomal ends.

Adolescent↗

Postoperative radiation therapy in 26 patients with invasive transitional cell carcinoma of the upper urinary tract: no impact on survival?

PURPOSE: To evaluate the role of adjuvant radiation therapy in invasive transitional cell carcinoma of the upper urinary tract, we retrospectively reviewed a series of 26 patients who underwent radical surgery plus postoperative prophylactic irradiation for such a tumor. MATERIALS AND METHODS: Between February 1980 and October 1993, 18 men and 8 women (mean age 65 +/- 9 years, standard deviation) were treated for an invasive transitional cell carcinoma of the upper urinary tract. Tumor location was the renal pelvis in 15 patients (58%). The tumor was pathological stage B in 11 patients (42%) and stage C in 15 (58%). Tumor grade was 2 in 10 patients, 3 in 15 and unknown in 1. One patient had epidermoid metaplasia of urothelial cancer and 9 had node involvement. All patients underwent surgery followed by radiation therapy to a total dose of 45 Gy. to the tumor bed (23) and/or regional nodes (18). RESULTS: After a mean followup of 45 months 13 patients (50%) were alive and 11 were disease-free at analysis. Local tumor relapse, nodal recurrence and metastasis were noted in 1, 4 (15%) and 14 (54%) patients, respectively. All patients with nodal recurrence had metastasis. A secondary location was noted frequently (6 bladder, 1 contralateral renal pelvis and 1 urethral tumors). Overall 5-year survival rate and 5-year survival rate with no evidence of disease were 49% and 30%, respectively. Overall 5-year survival rates were 60% for stage B and 19% for stage C disease (p = 0.07), 49% for node-negative versus 15% for node-positive cancer (p = 0.04), and 90% for grade 2 and 0% for grade 3 tumors (p < 0.01). CONCLUSIONS: In our trial using a radio-surgical approach, local control of disease and survival rates were similar to those reported previously in surgical series. Prophylactic postoperative radiation therapy is not recommended except in prospective randomized studies.

Aged↗

[Value of postoperative radiotherapy in malignant tumors of the upper urinary tract. Apropos of a series of 26 patients].

To evaluate the role of adjuvant radiation therapy in invasive transitional cell carcinoma of the upper urinary tract, we retrospectively reviewed a series of 26 patients who underwent radical surgery plus post-operative prophylactic irradiation for such a tumor. Between 1980 and October 1993, 18 men and eight women (mean age: 65 +/- 9 years) were treated for an invasive transitional cell carcinoma of the upper urinary tract. Tumor location was the renal pelvis in 15 patients (58%). The tumor was pathological stage B in 11 patients (42%) and stage C in 15 patients (58%). Tumor grade was 2 in ten patients, 3 in 15 and unknown in one. Nine patients had node involvement. All patients underwent surgery followed by radiation therapy to a total dose of 45 Gy to the tumor bed (23 patients) and/or regional nodes (18 patients). After a mean follow-up of 45 months, 13 patients (50%) were alive and 11 were disease-free. Local tumor relapse, nodal recurrence, metastasis and second urothelial location were noted in one, four (15%), 14 (54%) and eight patients (30%) respectively. Overall 5-year survival and 5-year disease-free survival were 49% and 30% respectively. Overall 5-year survival rates were 60% for stage B and 19% for stage C disease (P = 0.07), 43% for node-negative versus 15% for node-positive cancer (P = 0.04) and 90% for grade 2 and 0% for grade 3 tumors (P < 0.01). In this study using a radio-surgical approach, local control of disease and survival were similar to those reported previously in surgical series. Prophylactic post-operative radiation therapy is not recommended.

Adult↗

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency.

We describe a patient with severe muscle cytochrome c oxidase deficiency who had de Toni-Fanconi-Debré syndrome and acute neurologic deterioration resembling Leigh syndrome, without clear evidence of muscle abnormality. Metabolic investigations revealed elevated cerebrospinal fluid lactate values contrasting with normal blood lactate, and high 3-hydroxybutyrate/acetoacetate ratio with normal lactate/pyruvate ratio. This case emphasizes the importance of performing metabolic and biochemical investigations in every patient with Leigh syndrome, even in the absence of hyperlactatemia or myopathy.

Brain Diseases, Metabolic↗

[Toxoplasmosis and lupus. A review of the literature apropos of 4 cases].

The authors report 4 cases of toxoplasmosis in patients with acute disseminated lupus erythematosus (ADLE). In one case, a pregnant patient with serology indicative of chronic infection, infected the neonate who died of subacute toxoplasmosis. Although ADLE is a classical cause of immunodepression, toxoplasmosis is a rare complication; only 5 cases were found in a review of the literature. Toxoplasmosis infection may resemble an exacerbation of lupus; an accurate diagnosis is essential as the treatment of the two conditions is radically different. The problems of diagnosis of toxoplasmosis in immunodepressed patients are reviewed and the therapeutic approach, especially in pregnant patients, is discussed. In ADLE, the authors recommend checking toxoplasmosis serology before starting and during treatment with corticosteroids. Special attention should be paid to pregnant women with apparently chronic serological changes as neonatal infection may occur.

Adolescent↗

[Smallpox].

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Nursing↗

[Diphtheria].

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Diphtheria↗

[Scarlet fever].

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Nursing↗

[Influenza].

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Humans↗

[Chickenpox].

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Chickenpox↗