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Biomedical subjects

B Benoit

Publications and source records attributed to B Benoit.

At least 19 recordsLinked to original sources
PubMed2006

Metopic suture in fetuses with holoprosencephaly at 11 + 0 to 13 + 6 weeks of gestation.

OBJECTIVE: To investigate the development of the metopic suture in fetuses with holoprosencephaly at 11 + 0 to 13 + 6 weeks of gestation. METHODS: Three-dimensional (3D) ultrasound was used to measure the height and gap between the frontal bones in 200 normal fetuses and in nine fetuses with holoprosencephaly at 11 + 0 to 13 + 6 (median, 12) weeks of gestation. RESULTS: In the 200 normal fetuses, the height of the frontal bones increased significantly with gestation from a mean of 2.5 mm (5(th) and 95(th) centiles: 1.9 mm and 3.3 mm) at 11 weeks to 6.1 mm (5(th) and 95(th) centiles: 4.6 mm and 8.1 mm) at 13 + 6 weeks. The gap between the two frontal bones did not change significantly with gestation (mean: 1.5 mm; 5(th) centile: 1.0 mm; 95(th) centile: 2.0 mm). In fetuses with holoprosencephaly, the height of the frontal bones was significantly larger (mean difference, 5.6 SDs; range, 3.9-7.7 SDs; P < 0.0001) and the gap was significantly smaller (mean 0.2 mm, range 0-0.8 mm; P < 0.0001) than those in normal fetuses. CONCLUSIONS: Holoprosencephaly is associated with an accelerated development of the frontal bones and premature closure of the metopic suture.

Adult↗
PubMed2006

Metopic suture in fetuses with Apert syndrome at 22-27 weeks of gestation.

OBJECTIVES: To examine the possible association of skull deformity and the development of the cranial sutures in fetuses with Apert syndrome. METHODS: Three-dimensional (3D) ultrasound was used to examine the metopic and coronal sutures in seven fetuses with Apert syndrome at 22-27 weeks of gestation. The gap between the frontal bones in the transverse plane of the head at the level of the cavum septi pellucidi was measured and compared to findings in 120 anatomically normal fetuses undergoing routine ultrasound examination at 16-32 weeks. RESULTS: In the normal group, the gap between the frontal bones in the metopic suture at the level of the cavum septi pellucidi, decreased significantly with gestation from a mean of 2.2 mm (5th and 95th centiles: 1.5 mm and 2.9 mm) at 16 weeks to 0.9 mm (5th and 95th centiles: 0.3 mm and 1.6 mm) at 32 weeks. In the seven cases with Apert syndrome, two-dimensional ultrasound examination demonstrated the characteristic features of frontal bossing, depressed nasal bridge and bilateral syndactyly. On 3D examination there was complete closure of the coronal suture and a wide gap in the metopic suture (15-23 mm). CONCLUSION: In normal fetuses, cranial bones are believed to grow in response to the centrifugal pressure from the expanding brain and proximity of the dura to the suture is critical in maintaining its patency. In Apert syndrome, the frontal bossing may be a mere consequence of a genetically predetermined premature closure of the coronal suture. Alternatively, there is a genetically predetermined deformation of the brain, which in turn, through differential stretch of the dura in the temporal and frontal regions, causes premature closure of the coronal suture and impaired closure of the metopic suture.

Acrocephalosyndactylia↗
PubMed2006

Metopic suture in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation.

OBJECTIVE: To investigate the development of the frontal bones and metopic suture in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation. METHODS: Three-dimensional (3D) ultrasound was used to measure the height of and gap between the frontal bones in 75 fetuses with trisomy 21 and these were compared to the measurements in 200 normal fetuses at 11 + 0 to 13 + 6 (median, 12 + 6) weeks of gestation. RESULTS: In the fetuses with trisomy 21, compared to the normal fetuses, there was no significant difference in either the height of the frontal bones (mean difference 0.16 SD, range -1.78 to 2.17 SD; P = 0.369) or the gap between them (mean difference 0.012, 95% CI -0.073 to 0.097; P = 0.780). Additionally, within the group of trisomy 21 fetuses there were no significant differences in the development of the frontal bones and metopic suture between those with absent (n = 46) and those with present (n = 29) nasal bone. CONCLUSIONS: In trisomy 21 the development of the frontal bones and metopic suture is as normal and is independent from the development of the nasal bones.

Adult↗
PubMed2005

Early prenatal diagnosis of oculoauriculofrontonasal syndrome by three-dimensional ultrasound.

Oculoauriculofrontonasal syndrome is a rare developmental field defect that represents an abnormal morphogenesis of the frontonasal eminence. It consists of features of both oculoauriculovertebral spectrum and frontonasal malformation. A few cases in the literature have described this syndrome, but to the best of our knowledge the present case is the first early prenatal diagnosis of this severe condition using three-dimensional ultrasonography.

Adult↗
PubMed2005

Three-dimensional ultrasound with maximal mode rendering: a novel technique for the diagnosis of bilateral or unilateral absence or hypoplasia of nasal bones in second-trimester screening for Down syndrome.

OBJECTIVE: Three-dimensional (3D) ultrasound of the fetal face with maximal mode rendering allows accurate visualization of the bony face and the distinct demonstration of both nasal bones in second-trimester fetuses. The aim of this study was to analyze the feasibility of assessing nasal bones spatially on prenatal ultrasound in second- and third-trimester fetuses with present and absent nasal bones. METHODS: The faces of 38 fetuses between 17 and 33 weeks' gestation were examined with 3D ultrasound and volumes were stored for offline evaluation. Eighteen fetuses had normal karyotype and an apparently normal nasal bone on 2D ultrasound; these were examined to standardize the 3D rendering technique. Twenty fetuses had trisomy 21. RESULTS: In all 18 healthy fetuses both nasal bones could be demonstrated on 3D ultrasound. Nine of the 20 Down syndrome fetuses had a hypoplastic or absent nasal bone on two-dimensional ultrasound. On 3D ultrasound three of the nine had discrepant findings between left and right nasal bones with evidence of absence of one side, and hypoplasia (n = 2) or normal length (n = 1) of the other. CONCLUSIONS: Unilateral absence or hypoplasia of nasal bones is an important and new observation in fetuses with Down syndrome. This differentiation is best demonstrated on 3D ultrasound with maximal mode rendering. This observation of unilaterality of findings could explain some discrepant findings on absence of nasal bones on two-dimensional ultrasound but their "presence" on lateral postmortem radiographs.

Abortion, Induced↗
PubMed2005

Three-dimensional sonographic description of the fetal frontal bones and metopic suture.

OBJECTIVE: To describe the morphology of the frontal bones and metopic suture at 9-34 weeks of gestation using three-dimensional (3D) ultrasonography. METHODS: This was a cross-sectional study of the frontal bones and metopic suture in 16 fetuses at 9-34 weeks of gestation. 3D ultrasonography was used to obtain volumes of the whole fetal skull in the mid-sagittal plane. The volumes were analyzed using the rendering mode and transparent maximum mode in order to achieve a clear view of the frontal bones and the metopic suture. RESULTS: At 9 weeks, a small ossification center was visible in the middle of each supraorbital part of the frontal bones and by 11 weeks the frontal bones appeared as 'thick eyebrows'. In the second trimester there was progressive radial bone expansion and delineation of the metopic suture and in the third trimester there was closure of the metopic suture, starting from the glabella and moving upwards towards the anterior fontanelle. CONCLUSIONS: This study provides 3D ultrasound images that illustrate the process of ossification of the frontal bones and the subsequent development of the metopic suture during prenatal life.

Cranial Sutures↗
PubMed2005

Three-dimensional sonographic description of abnormal metopic suture in second- and third-trimester fetuses.

OBJECTIVE: To describe patterns of abnormal development of the metopic suture in association with fetal malformations during the second and third trimesters of pregnancy. METHODS: This was a cross-sectional study of the frontal bones and metopic suture in 11 fetuses at 17-32 weeks of gestation. Cases were selected because there were obvious abnormalities in the metopic sutures. In each case, a malformation was detected by two-dimensional (2D) ultrasound and the abnormality of the metopic suture was detected and evaluated on three-dimensional (3D) ultrasound, using transparent maximum mode. RESULTS: There were essentially four patterns of abnormality in the metopic suture: firstly, delayed development with a V- or Y-shaped open suture, which is found in normal fetuses at 12-16 weeks; secondly, a U-shaped open suture, presumably due to upward growth of the frontal bones with delayed closure; thirdly, premature closure of the suture, which is normally observed after 32 weeks; fourthly, the presence of additional bone between the frontal bones. Premature closure of the suture or additional bone between the frontal bones was observed in fetuses with holoprosencephaly and abnormalities of the corpus callosum, whereas the V-, Y- and U-shaped metopic sutures were observed in fetuses with facial defects involving the orbits, nasal bones, lip, palate and mandible, in the absence of holoprosencephaly and abnormal corpus callosum. CONCLUSIONS: This preliminary study describes the pattern of possible abnormalities of the metopic suture and should stimulate further investigation to establish the prevalence and evolution of abnormal sutures as well as the incidence and pattern of other associated defects.

Abnormalities, Multiple↗
PubMed2005

In vivo haematopoietic potential of human neural stem cells.

The fetal sheep model was used to compare the in vivo haematopoietic potential of human neural stem cells (NSC) versus bone marrow (BM)-derived haematopoietic stem cells (HSC). To this end, sheep were transplanted with either 8 x 10(5) NSC (n = 11) or HSC, CD34(+)Lin(-) (n = 5), and subsequently analysed for haematopoietic chimaerism. While HSC-transplanted sheep displayed robust donor-derived haematopoiesis starting at less than 2 months post-transplant, NSC recipients exhibited haematopoietic engraftment at much later time points. Nevertheless, chimaerism persisted in both groups throughout the course of this study. Transplantation of secondary recipients with human CD45(+)/HLA-DR(+) cells from the BM of NSC primary recipients at 14 and 16 months post-transplant demonstrated that long-term engrafting HSC were present in these animals. At 6 months post-transplant, both NSC- and HSC-transplanted sheep were mobilised with granulocyte colony-stimulating factor. In contrast to HSC-transplanted animals, levels of human blood cells in peripheral blood of NSC-transplanted sheep remained low throughout mobilisation. Our results show that, although human NSC were able to give rise to multilineage haematopoiesis in our model, the levels, timing of blood cell production and the ability to respond to cytokine mobilisation were different, suggesting that human NSCs latent haematopoietic potential is inherently different from that of true HSC.

Animals↗
PubMed2002

Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach.

Congenital ichthyosis, otherwise known as harlequin fetus, is a severe, generally lethal, anomaly. Prenatal diagnosis is usually possible in families at risk but requires invasive fetoscopy for skin biopsy. The application of three-dimensional ultrasound enables a greatly improved analysis of the facial morphology and thus provides an important contribution to prenatal diagnosis. Although such three-dimensional diagnostic procedures are performed in specialized centers, sonographers should be aware of the signs observed at routine two-dimensional ultrasound examination in order to ensure appropriate referral for diagnosis. We describe two consecutive pregnancies of the same parents in which two- and three-dimensional ultrasound were used in the prenatal diagnosis of harlequin fetus.

Adult↗
PubMed2001

Molecular characterization and phylogenetic analysis of a human T cell leukemia virus type 2 strain from French Guiana.

Extensive studies have been carried out on native Amerindian populations living in French Guiana in an attempt to detect human T cell leukemia virus type 2 (HTLV-2). However, the first strain of this virus identified in this region was not detected in these populations, but in a Brazilian woman of Amerindian origin. Comparative analyses of the nucleotide sequences of 589 bp of the gp21 env gene and of 625 bp of the long terminal repeat (LTR) showed that this new HTLV-2 strain (HTLV-2 GUY) was of subtype A. Sequence comparison and phylogenetic analyses demonstrated that HTLV-2 GUY was closely related to a group of distinct variants of HTLV-2 subtype A strains originating mostly from Brazilian inhabitants and formerly called HTLV-2 subtype C. As there is a high level of immigration from Brazil in French Guiana, we carried out a seroepidemiological study of 175 Brazilians, mostly women (obtained from a serum databank) and 72 female Brazilian prostitutes living in French Guiana to determine whether HTLV-2 is likely to become an emerging infection in this area. No HTLV-2 infection was detected, indicating that this virus is unlikely to become prevalent in the near future.

Base Sequence↗
PubMed2001

Halo structure of (14)Be.

The two-neutron halo nucleus (14)Be has been investigated in a kinematically complete measurement of the fragments ((12)Be and neutrons) produced in dissociation at 35 MeV/nucleon on C and Pb targets. Two-neutron removal cross sections, neutron angular distributions, and invariant mass spectra were measured, and the contributions from electromagnetic dissociation (EMD) were deduced. Comparison with three-body model calculations suggests that the halo wave function contains a large nu(2s(1/2))(2) admixture. The EMD invariant mass spectrum exhibited enhanced strength near threshold consistent with a nonresonant soft-dipole excitation.

Journal Article↗
PubMed2001

Influence of timing of administration of 5-fluorouracil to donors on bone marrow engraftment in nonmyeloablated hosts.

We evaluated the engraftment and the cell cycle status of marrow cells at various times after 5-fluorouracil (5-FU) administration. 5-FU (150 mg/kg) was given to donor male BALB/c mice at 1, 2, 6, or 12 days prior to marrow harvest. The donor cells were then assessed in host nonmyeloablated female mice. Bone marrow engraftment of marrow treated with 5-FU was evaluated and compared to marrow treated with diluent (phosphate-buffered saline) at 3 and 10 weeks after marrow infusion. Our data show a rapid induction of an engraftment defect 1 day after 5-FU, persistence of this defect through day 6, and a recovery by day 12. Experiments using hydroxyurea (which selectively kills cells in the S phase) to determine the cell cycle status indicated that cells that engrafted in post-5-FU marrow were noncycling at days 1, 2, and 12 but cycling at day 6. Post-5-FU bone marrow was also analyzed in vitro by colony assays and its cycling status determined by 3H-thymidine suicide assay. High-proliferative-potential colony-forming cells (HPP-CFCs) and low-proliferative-potential colony-forming cells (LPP-CFCs) decreased rapidly 1 day after 5-FU, with a nadir observed at day 6 for HPP-CFCs and day 2 for LPP-CFCs. By day 12, LPP-CFCs showed a total recovery, but HPP-CFCs were still defective. Significant numbers of HPP-CFCs were cycling, mostly at days 6 and 8 after 5-FU, whereas LPP-CFCs appeared quiescent except at day 2. These results emphasize the importance of timing if post-5-FU marrow is used for gene therapy or marrow transplantation.

Animals↗
PubMed2001

Detection of clonal T-cell receptor gamma gene rearrangements using fluorescent-based PCR and automated high-resolution capillary electrophoresis.

BACKGROUND: Analysis of T-cell receptor gamma (TCR gamma) gene rearrangements by PCR is a powerful tool for detecting clonal T-cell populations for the diagnosis of lymphoid neoplasms. We report a method for TCR gamma PCR analysis using capillary electrophoresis (CE). METHODS AND RESULTS: To define the threshold for identification of a predominant monoclonal population within a polyclonal background, we developed a novel objective parameter of the peak height ratio (Rn) of the peak of interest and the average of the two immediate flanking peaks. After evaluation of monoclonal, reactive, and normal T-cell populations, an Rn of 3.0 or greater was determined to be consistent with a monoclonal population, whereas an Rn between 1.9 and 3.0 was considered an intermediate range. This CE method was compared with the standard denaturing gradient gel electrophoresis (DGGE) method using previously evaluated clinical specimens. Eleven of 12 clinical specimens (92%) with a definitive diagnosis of T-cell lymphoma were monoclonal by CE, with 100% concordance with the DGGE method. Of nine specimens morphologically suspicious for T-cell lymphoma, five specimens were positive by CE analysis compared with four specimens by DGGE. In addition, 14 specimens for staging from patients with known T-cell lymphoma were studied using both the CE and DGGE methods, with a concordance of 86%. CONCLUSION: CE is a powerful and efficient method for analysis of clonality by TCR gamma PCR.

Biopsy↗
PubMed2000

Tissue-specific autoregulation of Drosophila suppressor of forked by alternative poly(A) site utilization leads to accumulation of the suppressor of forked protein in mitotically active cells.

The Suppressor of forked protein is the Drosophila homolog of the 77K subunit of human cleavage stimulation factor, a complex required for the first step of the mRNA 3'-end-processing reaction. We have shown previously that wild-type su(f) function is required for the accumulation of a truncated su(f) transcript polyadenylated in intron 4 of the gene. This led us to propose a model in which the Su(f) protein would negatively regulate its own accumulation by stimulating 3'-end formation of this truncated su(f) RNA. In this article, we demonstrate this model and show that su(f) autoregulation is tissue specific. The Su(f) protein accumulates at a high level in dividing tissues, but not in nondividing tissues. We show that this distribution of the Su(f) protein results from stimulation by Su(f) of the tissue-specific utilization of the su(f) intronic poly(A) site, leading to the accumulation of the truncated su(f) transcript in nondividing tissues. Utilization of this intronic poly(A) site is affected in a su(f) mutant and restored in the mutant with a transgene encoding wild-type Su(f) protein. These data provide an in vivo example of cell-type-specific regulation of a protein level by poly(A) site choice, and confirm the role of Su(f) in regulation of poly(A) site utilization.

Animals↗