A qualitative study on a decision aid for breast cancer screening: Views from women and health professionals.

This qualitative study evaluates a decision aid that includes the benefits and harms of breast cancer screening and analyses women's perception of the information received and healthcare professionals' perceptions of the convenience of providing it. Seven focus groups of women aged 40-69 years (n = 39) and two groups of healthcare professionals (n = 23) were conducted in Catalonia and the Canary Islands. The focus groups consisted of guided discussions regarding decision-making about breast cancer screening, and acceptability and feasibility of the decision aid. A content analysis was performed. Women positively value receiving information regarding the benefits and harms of breast cancer screening. Several women had difficulties understanding some concepts, especially those regarding overdiagnosis. Women preferred to share the decisions on screening with healthcare professionals. The professionals noted the lack of inclusion of some harms and benefits in the decision aid, and proposed improving the clarity of the statistical information. The information on overdiagnosis generates confusion among women and controversy among professionals. Faced with the new information presented by the decision aid, the majority of women prefer shared decision-making; however, its feasibility might be limited by a lack of knowledge and attitudes of rejection from healthcare professionals.

A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption.

Hereditary folate malabsorption (OMIM 229050) is a rare autosomal recessive disorder caused by loss-of-function mutations in the proton-coupled folate transporter gene (pcft/SLC46A1) resulting in impaired folate transport across the intestine and into the central nervous system. We report a novel, homozygous, deletion mutation in a child of Nicaraguan descent in exon 2 (c.558-588 del, ss778190447) at amino acid position I188 resulting in a frameshift with a premature stop.

[Epidemiology of primary glomerulonephritis in Picardie]. / Epidémiologie des glomérulopathies primitives en Picardie.

Between 1 January 1976 and 31 December 1986, primary glomerulonephritis was histologically diagnosed in 319 patients, living in a region of 675,000 inhabitants at the time of renal biopsy. The prevalence of primary glomerulopathy was 0.4/1000 inhabitants. The annual incidence was determined during two 5 year periods: period A (1976-1980) and period B (1981-1985): they were, respectively, 3.4 and 4.5 for 100,000 inhabitants. Berger's focal glomerulonephritis was the most common (30 p. 100) and its incidence was increasing. In contrast, membranoproliferative and acute glomerulonephritides were sharply decreased (almost disappeared), while membranous glomerulonephropathies and glomerulopathies with minimal glomerular lesions or proliferative forms with crescents increased. All primary glomerulonephritides were more prevalent in men and their frequencies increased with age. Our findings lead to the following conclusions: a) the low prevalence and incidence of primary glomerulopathies (3 times less than in other published studies) probably reflect the under medicalization of our region and the attractiveness of neighbouring metropolis, rather than a real decrease in the disease; b) the quasi- disappearance of acute and membranoproliferative glomerulonephropathies and the high incidence of IgA glomerulonephropathies suggest that their pathogenetic associations with infections sensitive to antibiotics are different; c) the increased frequency of membranous glomerulonephropathy and the glomerulopathy with minimal glomerular lesions in aged subjects is most likely due to their polymedication.

[Mixed cryoglobulinemia]. / Les cryoglobulinémies mixtes.

Mixed cryoglobulinemia are divided in two types: type II is the association of polyclonal IgG and a monoclonal IgM and type III is the association of polyclonal IgG and polyclonal IgM. In 70 p. 100 of cryoglobulinemia, a cause may be found (hematologic, auto immune disorder, infections, hepatic disorders), in some cases the recognition of the cause is delayed. In 30 p. 100 of cases, no cause can be identified and the cryoglobulinemia is considered as essential. Main clinical finding are purpuric skin rash, urticaria, arthralgia, motor sensitive polyneuropathy, diffuse proliferative glomerulo nephritis. Biological signs associate anemia, rheumatoïd factor and hypocomplementemia. Mixed essential cryoglobulinemia (the Meltzer and Franklin syndrome) is characterized by a systemic vasculitis involving small and middle size vessels.

Collagen IV staining pattern in bladder carcinomas: relationship to prognosis.

A prospective study of type IV collagen in urothelial tissues was undertaken using an immunoperoxidase method on 125 ethanol fixed specimens. In normal and non cancerous urothelium, the basement membrane was continuously stained and the same pattern was seen in the 27 superficial carcinomas. In the 48 invasive bladder carcinomas, we observed two patterns of staining for collagen IV: in the first one, the staining line was conserved or partially fragmented (28 tumours), while in the second one the staining line was widely fragmented or absent in more than 5% of the tumour area (20 tumours). We found a highly significant statistical correlation between the pattern of staining and short term prognosis. Twenty-nine patients had an assessable follow-up of three years at least. All 16 patients with pattern I staining were alive at two years while only two out of 13 patients with pattern II staining survived two years (P less than 0.0001). At three years, all the patients with pattern II staining died while 11 patients with pattern I were still alive (P less than 0.001). These data provisionally indicate that the type IV collagen staining pattern may be of prognostic value in assessing the short term behaviour of invasive bladder carcinomas. It is thus logical to envisage that the treatment decisions may be influenced by the results of collagen IV staining.

[Cavernous hemangioma of the bladder in children. Apropos of a case]. / Hémangiome caverneux de la vessie chez l'enfant. A propos d'un cas.

Benign tumours of the urinary bladder are very rare in children. A new case of cavernous haemangioma of the bladder is reported in a five year old boy presenting with macroscopic haematuria. This tumour is a hamartoma which usually presents with painless haematuria. In about 30% of cases, the bladder tumour is associated with angiomatous lesions in other parts of the body. The diagnosis may be suspected on intravenous urography or ultrasound examination, but it is generally made at cystoscopy. Biopsy and transurethral resection must be avoided because of the risks of haemorrhage. Partial cystectomy appears to be the most effective method of treatment.

[The extemporaneous examination: the decisive step in the surgical strategy in breast lesions]. / L'examen extemporané: étape décisive de la stratégie opératoire dans les lésions mammaires.

Research into breast diseases is developing in all directions. In particular, there has been great progress in the fields of cytology, radiology, isotope studies, thermography and ultrasonography. The diversity of these methods reflects the complexity of the diagnosis. No one method is infallible. We therefore consider that the frozen section examination should be an integral part of a breast surgery. It should be the decisive step in the operative strategy, as breast surgery is associated with important consequences: re-operation is always difficult and a radical operation is irreversible. Frozen section examination can reduce these risks.

[Thyroid dysembryoma. Report of a case in an adult (author's transl)]. / Les dysembryomes thyroïdiens. A propos d'une observation chez l'adulte.

One case of dysembryoma of the thyroid gland is reported. 115 cases of that rare disease have been published; the tumor is particularly rare in adult (14 cases). Salient features are reviewed, mostly complications and malignant degeneration. Surgical removal is the only treatment and also the only mean to have histological diagnosis.

[Study of two observations of bronchial muco-epidermoid tumour (author's transl)]. / Tumeurs muco-épidermoïdes bronchiques. Etude de deux observations.

This study deals two cases of operated bronchial muco-epidermoid tumours. They were localized in both cases in the segmentary bronchi (apical ones of lower lobes), one mostly endo-bronchial, the other with an endo-exobronchial development. The histological diagnosis was done after the thorough analysis of the surgical specimen revealed the association of two cell types characteristic of these tumours: mucus producing cells and epidermoid cells. Evolution differs in both cases, as the first observation revealed the existence of a potentially benign tumour, while in the second it behaved like a truly malignant one with local recurrence, regional invasion and distant metastases.