Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia ...and fibrotic changes in the portal area of the liver and with ductal proliferation, and (iii) postaxial polydactyly. A gene responsible for MKS in Finland has been mapped to chromosome 17q21-q24. Studying a subset of Middle Eastern and northern African MKS families, we have recently excluded the chromosome 17 region and have suggested a genetic heterogeneity. In the present study, we report on the mapping of a second MKS locus (MKS2) to chromosome 11q13, by homozygosity mapping in seven families that do not show linkage to chromosome 17q21-q24 (maximum LOD score 4.41 at recombination fraction .01). Most interestingly, the affected fetuses of southern Tunisian ancestry shared a particular haplotype at loci D11S911 and D11S906, suggesting that a founder effect is involved. Our observation gives support to the clinical and genetic heterogeneity of MKS.
To define reference data for skeletal and total body volumes of normal human fetuses.
Spiral CT was used to assess the skeletal and total body volumes of 31 normal human stillborn infants with ...gestational age (GA) and body weight (BW) ranging from 14 to 41.5 weeks and 22 to 3,760 g, respectively. CT scans (slice thickness 2.7 mm, pitch 0.7) were performed within the first 24 h after delivery. Precise bone and soft-tissue windows were defined from analysis of the density along the diaphysis of the fetal long bones and from the measurement of a phantom that mimics soft tissues. Lengths and volumes were obtained from 3D reconstructions. The femur lengths measured from CT images (FLct) were compared with those provided by US studies (FLus).
Significant correlations ( r>0.9) were found between BW, measured volumes of the entire skeleton or head, long-bone lengths, biparietal diameter and GA. Strong linear correlations ( r>0.98) were observed between FLct and FLus.
Skeletal and total body volume values obtained using spiral CT were significantly correlated with fetal biometric measurements. These data could complement those obtained in obstetric investigations with US.
To generate a national biobank made up of samples of the highest quality for the purpose of inciting basic research on gestational trophoblastic diseases (GTD).
Three priority axes of research were ...defined to optimize the nature, method of collection, and storage of the samples. These are: to enhance our understanding of GTD, develop new diagnostic tests, and identify new therapeutic targets. The protocol for patient inclusion and sample processing was determined after extensive literature review and collaboration with international experts in the field of GTD.
For each patient with a GTD and for control patients (legally induced abortions), chorionic villi, decidua and tumor samples (fresh, immersed in RNA-protective solution and fixed in formaldehyde), blood (serum, plasma, RNA, and peripheral blood mononuclear cells), urine (supernatant), and cell cultures of villous cytotrophoblasts are prospectively collected. Associations are then made between the collected samples and numerous clinical and biological data, such as human chorionic gonadotropic plasma levels following curettage in the case of a hydatidiform mole.
Such a collection of high quality samples and their associated data open up new perspectives for both national and international collaborative research projects.
Histiocytoid carcinoma of the breast, a cellular variant of invasive breast cancer, is mainly found among infiltrating lobular carcinomas (ILC). It can be easily confused with benign conditions or ...other mammary tumors also composed of cells with a pink granular to foamy cytoplasm and an eccentric nucleus. We report 3 cases of histiocytoid ILC. Our aim is to discuss recent immunocytochemical data that could suggest a special type of apocrine differentiation of tumor cells, including a diffuse immunoreactivity for GCDFP-15 (Gross Cystic Disease Fluid Protein 15) and a predominant expression of androgen receptor, and to describe the features useful for the differential diagnosis.
Le dysgerminome ovarien représente la tumeur germinale la plus fréquente chez la femme et peut se révéler par des tableaux cliniques et paracliniques variés. Dans les deux cas présentés, la sécrétion ...tumorale inappropriée d’HCG a fait évoquer à tort initialement le diagnostic de grossesse ectopique. Une revue non-exhaustive de la littérature montrera l’originalité de cette tumeur qui repose sur ces capacités sécrétoires multiples. Inversement, face à une augmentation de l’HCG, diverses hypothèses étiologiques gynécologiques ou non doivent être évoquées dans un contexte non gravidique.
Ovarian dysgerminoma is the most common germinal tumor in women; however, a lot of different symptoms can lead to its diagnosis. In the two cases reported here, misdiagnosis of ectopic pregnancy was first done because of inappropriate secretion of HCG by the tumor. These two cases point out the particularity of dysgerminoma with its various secretion capacity. Conversely, facing a raised level of HCG in non-gravidic situation, physicians have to consider different gynaecological and extragynaecological hypothesis.
PDF
