To describe the morphological stages of insular sulci and gyri development we carried out a macroscopical study on 21 human fetal brains, showing no anomalies, from 13 to 28 gestational weeks (GWs). ...Particular focus was given to morphological appearance during the development of insular and periinsular structures, especially the gyration and sulcation of the insula, central cerebral region and opercula, as well as the vascularization of these regions. The periinsular sulci and the central (insular and cerebral) sulci were the first macroscopical structures identified on the lateral surface of the human fetal cerebral hemisphere with earlier development on the right hemisphere. Here we describe five stages of insular gyral and sulcal development closely related to gestational age: stage 1: appearance of the first sulcus at 13-17 GWs, stage 2: development of the periinsular sulci at 18-19 GWs, stage 3: central sulci and opercularization of the insula at 20-22 GWs, stage 4: covering of the posterior insula at 24-26 GWs, stage 5: closure of the sylvian fissure at 27-28 GWs. We provide evidence that cortical maturation (sulcation and gyration) and vascularization of the lateral surface of the brain starts with the insular region, suggesting that this region is a central area of cortical development.
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, multisystemic disorder characterised by progressive retinal dystrophy, obesity, hypogenitalism, learning difficulties, renal abnormalities ...and postaxial polydactyly, with only the last two antenatally observable. BBS is inherited as an autosomal recessive disorder, and 14 genes have been identified to date (BBS1-BBS14). In addition, a complex digenic inheritance has been established in some families. Mutations of the BBS10 gene on chromosome 12q21.2 account for 20% of BBS cases.
Given the fact that mutations in BBS genes have already been found in Meckel-like fetuses, and in light of the major contribution of BBS10 to BBS, the BBS10 gene was sequenced in 20 fetal cases and a child diagnosed antenatally presenting with characteristic renal anomalies and polydactyly, but without biliary dysgenesis.
Recessive mutations were identified at the BBS10 locus in five cases: four fetuses and a child. Interestingly, one of them had situs ambiguus, a rare feature in BBS. In the child, BBS gene screening identified a heterozygous BBS6 nonsense mutation in addition to the homozygous BBS10 mutation, in accordance with the suggested multigenic inheritance of the disease.
These results confirm that BBS is underdiagnosed antenatally and should systematically be suspected in fetuses with severe cystic kidneys leading to oligoamnios and fetal or perinatal death. Moreover, this study confirms the high frequency of BBS10 mutations, particularly of the p.Cys91LeufsX5 allele, including severe lethal cases.
The aim of the study is to compare placental monochorionic angioarchitecture complicated with twin-oligohydramnios-polyhydramnios sequence (TOPS), twin anemia polycythemia sequence (TAPS), twin ...reversed arterial perfusion (TRAP) and selective intra uterine growth restriction (sIUGR) to normal uneventful monochorionic placenta.
Between December 2012 and December 2015, monochorionic placenta has been studied at the multiple pregnancy care center of the Femme-Mère-Enfant Hospital in Lyon. Umbilical chords were catheterized and dye injected for macroscopic analysis of angioarchitecture at the anatomopathology department. Placentas treated with laser foetoscopic surgery were excluded.
A total of 126 placentas were injected in the post-partum period. In total, 95% (119/126) of the placentas presented arteriovenous anastomoses (AVA). Median number of AVA was 7. The prevalence of at least one velamentous cord insertion was higher in TOPS and selective intrauterine growth restrictions P<0.01 and P<0.01 respectively, compared to uneventful pregnancies. Arterio-arterial anastomoses (AAA) were present in 82.7% (77/93) of uneventful placentas versus 33.3% of TOPS (P<0.01) and 28.5% of TAPS (P<0.01). The prevalence of veno-venous anastomoses was significantly higher in TOPS (P<0.01). All TAPS placentas showed marginal arteriovenous anastomoses. In TRAP placenta, the acardiac twin had no specific vascular territory.
The study confirms literature findings on prevalence of vascular anastomoses in monochorial placentas, suggesting the protective role of AAA in TOPS and TAPS. The role of VVA is yet hard to determinate. Macroscopic observations of monochorionic placentas are valuable and essential keys for understanding, managing and treating anastomotic syndromes.
To investigate the technical feasibility of optical biopsy (probe-based confocal laser endomicroscopy pCLE) during laparoscopy and by the vaginal route in the exploration of pelvic gynecological ...cancers.
Prospective study including 31 patients undergoing laparoscopic hysterectomy (benign or malignant indication). Confocal microlaparoscopy (analysis of tubes, ovaries, and depending on the type de cancer, pelvic adenopathies) and optical biopsy of the endometrium were first carried out by the vaginal route under general anesthesia. The surgical procedure was then carried out.
Thirty-one consecutive patients were included (16 for benign hysterectomy, 12 for endometrial cancer and 3 for ovarian carcinoma). pCLE offered dynamic pictures that were correlated with the histopathological images.
pCLE provides high resolution imaging of cancerous and benign tissues in real-time similar to histopathological results. Both feasibility and safety were confirmed.
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.
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