Epidemiology of breast cancer in women based on diagnosis data from oncologists and senologists in Algeria.

BACKGROUND: Breast cancer (BC) is a major health issue threatening women's life. No reliable epidemiological data on BC diagnosed by oncologists/senologists are available in Algeria. METHODS: The BreCaReAl study, a non-interventional prospective cohort study, included adult women with confirmed BC in Algeria. Disease incidence, patients and disease characteristics, treatment patterns, and mortality rate were recorded up to 12 months of follow-up. RESULTS: Overall, 1,437 patients were analysed: median age was 48 [41;57] years and 337 (23.5%) women had a family history of BC. BC incidence was 22.3 (95% CI: 21.5; 23.2) cases per 100,000 inhabitants over 8 months. Delayed diagnosis was reported in 400 (29.2%) patients. First line of treatments were mainly chemotherapy and surgery. Twenty-eight serious adverse events were reported including 10 (37.0%) events which led to death. Mortality rate reached 3.2% at 12 months CONCLUSION: A delayed diagnosis highlights the importance of implementing more effective screening strategies.

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

Autosomal dominant DOPA-responsive dystonia (DRD) is usually caused by mutation in the gene encoding guanosine triphosphate-cyclohydrolase I (GTPCH I). We studied 22 families with a phenotype of levodopa-responsive dystonia by sequencing the six coding exons, the 5'-untranslated region and the exon-intron boundaries of the GTPCH I gene. Eleven heterozygous mutations were identified, including five missense mutations, one splice site mutation, two small deletions and two nonsense mutations, in 12 families that included 27 patients and 13 asymptomatic carriers. Six mutations were new and five had already been reported. Four of the mutations caused truncation of the GTPCH I protein. One family carried a base-pair change in the 5'-untranslated region, not detected in controls, that could be responsible for the phenotype. Three of the remaining 10 families had deletions in the parkin gene on chromosome 6, underlining how difficult it is to distinguish, in some cases, between DRD and parkin mutations. No mutations were identified in seven families. The clinical spectrum extended from the classical DRD phenotype to parkinsonism with levodopa-induced dyskinesias, and included spastic paraplegia as well as the absence of dystonia.

[Intracranial tumor developing from the vitelline sac. Apropos of a case]. / Tumeur intracrânienne développée à partir du sac vitellin. A propos d'un cas.

The authors report a case of a primary intracranial yolk sac tumor which is a quite rare eventuality. The patient, an 18 months old girl was referred for severe intracranial hypertension. Neurological examination revealed a right hemiparesis, a left abducens nerve palsy and a bilateral papilledema. The serum and C.S.F. levels of alpha fetoprotein were at 2100 Ugr/l and 2500 Ugr/l, respectively. The computerized tomography showed a mass with a low density area in the left temporoparietal lobe and the carotid angiogram a highly hyper-vascular tumor. The child underwent a left temporo-parietal craniotomy and the friable vascular tumor was totally removed. A radiotherapy was associated to the surgical treatment. Histologically, glomerular like structures (Shiller Duval body), intra and extra cellular hyaline globules PAS positive were frequently seen. The tumor marker was demonstrated immunohistochemically.

[Hydatid cysts of the brain. Diagnostic and therapeutic problems apropos of 100 cases]. / Kystes hydatiques du cerveau. Problèmes diagnostiques et thérapeutiques à propos de 100 cas.

The authors report 100 cases of hydatid cysts of the brain operated in the Neurosurgical Department (C.H.U. of Algier). They compars their data with those of the litterature. It appears once more that cerebral hydatidosis affects the children living in endemic countries and looks like a quite pure increased intracranial pressure. Supratentorial situation of the mass can be approached many times by the E.E.G. A right diagnosis is possible in almost all cases (6/7) by angiographic examination. Surgical technique is simple but one must keep a great attention in removing these "virulent" cysts. As a rule, the results are good, as far as the patients are not in a bad status before the operation. Unfortunately becalse of a late diagnosis, one patient among three is blind after the operation as he was before.