Dominique Carles | Université de Bordeaux (original) (raw)
Papers by Dominique Carles
Urology, 2015
Prenatal testicular torsion is a very rare morbid entity, described in the literature to occur wh... more Prenatal testicular torsion is a very rare morbid entity, described in the literature to occur when the testicle is intrascrotal, around the 34(th) week of gestation. Here we report a case of early testicular necrosis. This male fetus was the product of a medical abortion at 27 week's. During evisceration, a left testicular nubbin free in the peritoneal cavity was found. Histologically, it was extensively necrotic. Because of the location, the size and the histological features of this necrotic testicle, we conclude that it was the result of torsion of the pedicle that occurred around the 20(th) week of pregnancy. We report a case of a very early testicular necrosis. Because of the location, the size and the histological features of this necrotic testicle, we hypothesize that it was the result of torsion of the pedicle that occurred around the 20(th) week of pregnancy. This was a very unusual and a fortuitous finding at the time of a fetopathological examination of a 27 week's fetus.
Journal of Ethnopharmacology, 2015
Centaurium erythraea Rafn (CE), Artemisia herba-alba Asso (AHA) and Trigonella foenum-graecum L. ... more Centaurium erythraea Rafn (CE), Artemisia herba-alba Asso (AHA) and Trigonella foenum-graecum L. (TFG) are traditionally used to treat type 2 diabetes in Algeria, previous studies have found that extracts of these plants were effective to treat or prevent experimental diabetes induced by high-fat diet (HFD). Describe the additional effects of these extracts on lipid tissue deposition in HFD. Male C57BL/6J mice were fed with HFD to induce type 2 Diabetes. Groups of mice were given plant extracts orally at 2g/kg/bodyweight daily for 20 weeks during establishment of diabetes, or for 18 weeks after confirmation of diabetes at the 17th week. Liver and other tissue samples were stained with Oil Red O. Liver steatosis was confirmed with HFD. CE, AHA and TFG extracts improved liver steatosis by the end of the preventive (20 weeks) and curative periods (35 weeks). This was most marked for CE extract (p<0.05), less so with TFG and AHA. No steatosis was found in other tissues. CE extract had a clear hepatoprotective effect in this mouse model of diet-induced type 2 diabetes. AHA and TFG had a minimal or no significant effect on steatosis. Beyond its effect as an antidiabetic agent, CE may also be promising to prevent or treat non-alcoholic liver steatosis.
Bulletin de l'Académie nationale de médecine, 2005
The objective of this works to determine the frequency and nature of malformations detected by pa... more The objective of this works to determine the frequency and nature of malformations detected by pathological study of aborted and stillborn third-trimester fetuses. The data were extracted from the files of the fetoplacental unit of Bordeaux University Hospital between January 2000 and December 2003. The study focused on fetuses with a gestational age corresponding to the third trimester (27 weeks to term). Death resulted from either induced abortion (IA) or spontaneous intrauterine death (IUD). A total of 1963 fetopathological examinations were performed during the study period, of which 524 involved third-trimester fetuses (109 IA, 49 IUD). The 109 IA represented nearly 15% of all abortions performed for medical reasons during the study period. The mean gestational age was 31.2 weeks in the IA group and 34.3 weeks in the IUD group (p < 1 per thousand). The abnormalities most frequently observed in the IA group consisted of neurological disorders (34 cases), cardiovascular disord...
Annales de pathologie, 1999
We analyzed 53 cases of sudden infant death to detect immunohistochemical expression of respirato... more We analyzed 53 cases of sudden infant death to detect immunohistochemical expression of respiratory syncytial virus on pulmonary sections. The virus was identified in 7 cases. The immunohistochemical staining was intracytoplasmic and mainly observed in bronchioles. Among these 7 cases, 6 showed severe pulmonary lesions which were assumed to be accountable for decrease. The inflammatory lesions related to respiratory syncytial virus were diffuse, located with the same intensity to either bronchi, bronchioles, alveoles and upper respiratory tract. The immunohistochemical staining was markedly heterogeneous, requiring numerous pulmonary samples.
La Nouvelle presse médicale, Jan 19, 1981
International Journal of Angiology, 2010
The physiopathology of venous symptoms, such as pain, leg heaviness or swelling sensations, in ch... more The physiopathology of venous symptoms, such as pain, leg heaviness or swelling sensations, in chronic venous disease (CVD) remains unclear. Localized release of proinflammatory mediators appears to play a key role but the presence of nociceptors sensitive to inflammatory mediators, such as unmyelinated C fibres, needs to be demonstrated. The present study included 10 patients with documented CVD who underwent surgery for saphenectomy. For each patient, five segments of the great saphenous vein were immunostained with anti-S100 protein and anti-CD45 to identify nerve fibres and inflammatory cells, respectively. Light microscopy was completed by electron microscopy. In all patients, S100 immunopositive nerve fibres and CD45 immunopositive cells were observed. Under an electron microscope, advanced signs of wall remodelling were systematically observed. The density of nerve fibres was low and variable from one sample to another. Unmyelinated C fibres were mainly located in the external part of the media and to a lesser extent in the internal part of the adventitia. Inflammatory cells, mainly histiocytes, were scattered in the media. Mast cells were observed in three patients. In conclusion, unmyelinated C fibres and inflammatory cells are present in the varicose saphenous vein wall. Their linked roles in symptoms of CVD should be further explored.
Journal of Neuroimmunology, 1998
The expression of NGF receptors was investigated in normal human thymus and in thymic hyperplasia... more The expression of NGF receptors was investigated in normal human thymus and in thymic hyperplasias, thymomas and thymic carcinomas. By RT-PCR, we detected TrkAI transcripts encoding for the high-affinity NGF receptor. Western blot analysis showed the presence of both TrkA and p75NGFR proteins. In normal thymuses, epithelial subcapsular and medullar cells were TrkA immunoreactive. Interdigitated medullar cells were stained for both TrkA and p75NGFR. While epithelial cells of normal thymuses or benign thymomas exhibited a TrkA positive-p75NGFR negative phenotype, a switch to a TrkA negative-p75NGFR positive phenotype was observed in malignant epithelial cell tumours and was associated with cell proliferation-associated MIB1 expression. Our results argue for a local role of NGF and its receptors on thymic stromal cells both in normal and neoplastic conditions.
Bulletin de l'Académie nationale de médecine, 2009
Chorionic villous sampling (CVS) has been available for more than twenty years. Together with amn... more Chorionic villous sampling (CVS) has been available for more than twenty years. Together with amniocentesis, it helps the cytogenetician to determine the fetal karyotype for prenatal diagnosis. The choice between these two methods depends on the team and the indication. CVS can now provide sufficient material for both histopathologic and cytogenetic analyses. We evaluated the accuracy of microscopic examination of CVS for detecting primary ovular, uteroplacental vascular (preeclampsia) and inflammatory disorders. Four hundred CVS were examined in the pathology laboratory of Pellegrin Hospital, Bordeaux, France, from January 1995 to February 2008. The results were analyzed according to the indication, the karyotype, the results of placental examination, pregnancy outcome and, when available (following spontaneous or medical termination), fetoplacental findings. The sample was representative of patients requiring CVS for prenatal diagnosis, with respect to maternal age, the stage of p...
Journal of craniofacial genetics and developmental biology
The aim of this study is to compare the theory of embryogenesis of the face with human diprosopia... more The aim of this study is to compare the theory of embryogenesis of the face with human diprosopia. This peculiar form of conjoined twinning is of great interest because 1) only the facial structures are duplicated and 2) almost all cases have a rather monomorphic pattern. The hypothesis is that an initial duplication of the notochord leads to two neural plates and subsequently duplicated neural crests. In those conditions, derivatives of the neural crests will be partially or totally duplicated; therefore, in diprosopia, the duplicated facial structures would be considered to be neural crest derivatives. If these structures are identical to those that are experimentally demonstrated to be neural crest derivatives in animals, these findings are an argument to apply this theory of facial embryogenesis in man. Serial horizontal sections of the face of two diprosopic fetuses (11 and 21 weeks gestation) were studied macro- and microscopically to determine the external and internal struct...
Archives of pathology & laboratory medicine, 1992
We report a case of idiopathic arterial calcification in a stillborn. As usually noted in this ra... more We report a case of idiopathic arterial calcification in a stillborn. As usually noted in this rare entity, the pregnancy was complicated by a polyhydramnios. The postmortem examination showed generalized arterial calcification, periarticular calcific deposits, and a large pleural hemorrhage. The causes of fetal hydrops in idiopathic infantile calcification are discussed, and, in the present case, the absence of myocardial ischemic lesion suggests that the fetal hydrops and the fetal death could have been caused by the bulky blood clot that was present in the right pleural cavity. The pathogenesis remains undetermined, but a primitive inherent defect of the elastic elements seems to initiate this disorder.
Archives françaises de pédiatrie, 1992
Comptes rendus des séances de la Société de biologie et de ses filiales, 1978
An original method for organ culture of human skin epithelial cells using as a support human skin... more An original method for organ culture of human skin epithelial cells using as a support human skin grafts obtained from the Human tissue Band of "C.H.R. de Bordeaux" is described. Methods and results of this technic which seems to represent a forward step relative to traditional practices are exposed.
Revue Française des Laboratoires, 1998
ABSTRACT Sirenomelia is a very rare malformation where etiology remains unclear. While the compre... more ABSTRACT Sirenomelia is a very rare malformation where etiology remains unclear. While the compression theory is now rejected by most authors, two hypotheses are still discussed : 1/ a caudal dysgenesis as part of the caudal regression syndrome and 2/ a vascular disruption : the aberrant umbilical artery would divert the blood flow from the caudal portion of the embryo to the placenta. We have analyzed the arterial vasculature of three sirenomelic fetuses by means of arteriography. The caudal arterial network differs clearly from one fetus to the other ; mainly, the higher the aberrant umbilical artery arises from the aorta, the more severe is the disturbance of the caudal development. These findings support the vascular disruption theory to explain the etiology of sirenomelia.
Prenatal Diagnosis, 2003
The aim of this study is to compare two-dimensional and three-dimensional ultrasound for the visu... more The aim of this study is to compare two-dimensional and three-dimensional ultrasound for the visualization and diagnosis of craniofacial dysmorphism. In this prospective study, we performed three-dimensional (3D) ultrasound following good-quality two-dimensional (2D) ultrasound in an at-risk population. Findings from 2D and 3D examination were noted. Our series included 41 patients. In 20 cases, 3D performed better than 2D, and in two cases 2D was more informative. In 9 cases, there was no difference between the performance of the two, and in two cases both 2D and 3D gave inadequate results. However, in 7 cases 3D images could not be obtained. Although it is rarely decisive, 3D ultrasound is of interest when it comes to the precise description of craniofacial dysmorphisms and the study of the fetal ears.
PLoS ONE, 2013
Objectives: Recent studies have shown that telomere length was significantly reduced in placentas... more Objectives: Recent studies have shown that telomere length was significantly reduced in placentas collected at delivery from pregnancies complicated by intrauterine growth restriction secondary to placental insufficiency. Placental telomere length measurement during ongoing pregnancies complicated by intrauterine growth restriction has never been reported. This was the main objective of our study.
Fetal & Pediatric Pathology, 1996
A collaborative study was performed to determine the different types and mechanisms of intestinal... more A collaborative study was performed to determine the different types and mechanisms of intestinal abnormalities during gestation. Cases had to fulfill one or more of the following three criteria: (1) meconium ileus, (2) intestinal stenosis or atresia, and (3) meconium peritonitis. Esophageal atresia, anorectal atresia, and abdominal wall defects were excluded. One hundred two cases were reviewed from the autopsies of 42 induced abortions, 22 stillborns, and the surgical findings in 38 neonates. Meconium ileus was detected mainly during the second trimester (28/38), and was associated with cystic fibrosis (15), fetal blood deglutition (4), infection (6), or multiple-abnormalities (10), in which three chromosomal aberrations were found. Intestinal stenosis or atresia was more commonly detected during the third trimester of gestation (46/56). Sixteen of the 30 duodenal malformations were associated with trisomy 21, whereas in the 26 small intestinal atresias, signs of distress or ischemia were most frequently detected. Only 8 of 25 meconium peritonitis cases were isolated. A total of 20 cystic fibrosis cases could be proved. In this series, functional abnormalities were observed predominantly in the second trimester and associated mainly with cystic fibrosis or amniotic fluid abnormalities. Anatomic lesions were commonly detected later on and associated with ischemic conditions, chromosomal aberrations, and even cystic fibrosis.
American Journal of Medical Genetics, 1999
Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is abnormally co... more Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is abnormally connected to the gonad. SGF may occur as an isolated condition or may be associated with other malformations, especially with terminal limb defects in what is called splenogonadal fusion limb defect (SGFLD) syndrome. In this article, we report on 5 new cases of SGFLD and we review the 25 cases reported since 1889. Most cases reviewed here have a combination of severe limb and oro-mandibular defects, suggesting that SGFLD may be related to the broader group of Hanhart complex. In addition, several cases have limb malformations and facial anomalies, which suggest that SGFLD overlaps with both femur-fibula-ulna dysostosis and femoral-facial syndrome. The hypothesis of a vascular disruptive event, occurring between the 5th and the 7th weeks of gestation, could explain the limb defects, the mandibular hypoplasia, and the fusion of the spleen to the gonad observed in SGFLD. However, this heterogenous and polytopic condition could also be the consequence of a primary field defect. All the cases to date reported have been sporadic and the recurrence risk is probably low. However, a recent case of Roberts syndrome with SGF was reported that suggests careful examination of chromosomal status.
The American Journal of Human Genetics, 2012
Human Pathology, Jun 1, 2004
In the past 20 years, the diagnosis of hydatidiform moles has become more difficult because of th... more In the past 20 years, the diagnosis of hydatidiform moles has become more difficult because of the widespread use of early uterine evacuation. Differentiating hydropic degeneration, partial, and complete moles is important because of their different prognosis. However, clinical diagnosis is less obvious, and the pathologist has to separate the different entities on the basis of very subtle morphologic criteria. In difficult cases, ploidy may be determined by various methods, including fluorescence in situ hybridization (FISH) on routine histological sections from paraffin-embedded specimens. However, FISH analysis is often difficult because of the presence of numerous truncated nuclei. In this context, we have tested the advantages of FISH on isolated nuclei, a well-known variant of the technique that might be more sensitive. We reviewed 24 cases of products of abortion: hydropic degenerations, complete hydatidi-form moles, partial moles, and nonmolar triploidies. After histological review, FISH on isolated nuclei proved conclusive in all cases. The results could be easily interpreted thanks to the reduced number of truncated nuclei. The percentage of cells with 2 signals was always >70% in the diploid cases and >60% in the triploid cases. In conclusion, this sensitive technique seems to be a valuable tool for the diagnosis of moles. HUM PATHOL 35:752-758.
Urology, 2015
Prenatal testicular torsion is a very rare morbid entity, described in the literature to occur wh... more Prenatal testicular torsion is a very rare morbid entity, described in the literature to occur when the testicle is intrascrotal, around the 34(th) week of gestation. Here we report a case of early testicular necrosis. This male fetus was the product of a medical abortion at 27 week&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s. During evisceration, a left testicular nubbin free in the peritoneal cavity was found. Histologically, it was extensively necrotic. Because of the location, the size and the histological features of this necrotic testicle, we conclude that it was the result of torsion of the pedicle that occurred around the 20(th) week of pregnancy. We report a case of a very early testicular necrosis. Because of the location, the size and the histological features of this necrotic testicle, we hypothesize that it was the result of torsion of the pedicle that occurred around the 20(th) week of pregnancy. This was a very unusual and a fortuitous finding at the time of a fetopathological examination of a 27 week&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s fetus.
Journal of Ethnopharmacology, 2015
Centaurium erythraea Rafn (CE), Artemisia herba-alba Asso (AHA) and Trigonella foenum-graecum L. ... more Centaurium erythraea Rafn (CE), Artemisia herba-alba Asso (AHA) and Trigonella foenum-graecum L. (TFG) are traditionally used to treat type 2 diabetes in Algeria, previous studies have found that extracts of these plants were effective to treat or prevent experimental diabetes induced by high-fat diet (HFD). Describe the additional effects of these extracts on lipid tissue deposition in HFD. Male C57BL/6J mice were fed with HFD to induce type 2 Diabetes. Groups of mice were given plant extracts orally at 2g/kg/bodyweight daily for 20 weeks during establishment of diabetes, or for 18 weeks after confirmation of diabetes at the 17th week. Liver and other tissue samples were stained with Oil Red O. Liver steatosis was confirmed with HFD. CE, AHA and TFG extracts improved liver steatosis by the end of the preventive (20 weeks) and curative periods (35 weeks). This was most marked for CE extract (p&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.05), less so with TFG and AHA. No steatosis was found in other tissues. CE extract had a clear hepatoprotective effect in this mouse model of diet-induced type 2 diabetes. AHA and TFG had a minimal or no significant effect on steatosis. Beyond its effect as an antidiabetic agent, CE may also be promising to prevent or treat non-alcoholic liver steatosis.
Bulletin de l'Académie nationale de médecine, 2005
The objective of this works to determine the frequency and nature of malformations detected by pa... more The objective of this works to determine the frequency and nature of malformations detected by pathological study of aborted and stillborn third-trimester fetuses. The data were extracted from the files of the fetoplacental unit of Bordeaux University Hospital between January 2000 and December 2003. The study focused on fetuses with a gestational age corresponding to the third trimester (27 weeks to term). Death resulted from either induced abortion (IA) or spontaneous intrauterine death (IUD). A total of 1963 fetopathological examinations were performed during the study period, of which 524 involved third-trimester fetuses (109 IA, 49 IUD). The 109 IA represented nearly 15% of all abortions performed for medical reasons during the study period. The mean gestational age was 31.2 weeks in the IA group and 34.3 weeks in the IUD group (p < 1 per thousand). The abnormalities most frequently observed in the IA group consisted of neurological disorders (34 cases), cardiovascular disord...
Annales de pathologie, 1999
We analyzed 53 cases of sudden infant death to detect immunohistochemical expression of respirato... more We analyzed 53 cases of sudden infant death to detect immunohistochemical expression of respiratory syncytial virus on pulmonary sections. The virus was identified in 7 cases. The immunohistochemical staining was intracytoplasmic and mainly observed in bronchioles. Among these 7 cases, 6 showed severe pulmonary lesions which were assumed to be accountable for decrease. The inflammatory lesions related to respiratory syncytial virus were diffuse, located with the same intensity to either bronchi, bronchioles, alveoles and upper respiratory tract. The immunohistochemical staining was markedly heterogeneous, requiring numerous pulmonary samples.
La Nouvelle presse médicale, Jan 19, 1981
International Journal of Angiology, 2010
The physiopathology of venous symptoms, such as pain, leg heaviness or swelling sensations, in ch... more The physiopathology of venous symptoms, such as pain, leg heaviness or swelling sensations, in chronic venous disease (CVD) remains unclear. Localized release of proinflammatory mediators appears to play a key role but the presence of nociceptors sensitive to inflammatory mediators, such as unmyelinated C fibres, needs to be demonstrated. The present study included 10 patients with documented CVD who underwent surgery for saphenectomy. For each patient, five segments of the great saphenous vein were immunostained with anti-S100 protein and anti-CD45 to identify nerve fibres and inflammatory cells, respectively. Light microscopy was completed by electron microscopy. In all patients, S100 immunopositive nerve fibres and CD45 immunopositive cells were observed. Under an electron microscope, advanced signs of wall remodelling were systematically observed. The density of nerve fibres was low and variable from one sample to another. Unmyelinated C fibres were mainly located in the external part of the media and to a lesser extent in the internal part of the adventitia. Inflammatory cells, mainly histiocytes, were scattered in the media. Mast cells were observed in three patients. In conclusion, unmyelinated C fibres and inflammatory cells are present in the varicose saphenous vein wall. Their linked roles in symptoms of CVD should be further explored.
Journal of Neuroimmunology, 1998
The expression of NGF receptors was investigated in normal human thymus and in thymic hyperplasia... more The expression of NGF receptors was investigated in normal human thymus and in thymic hyperplasias, thymomas and thymic carcinomas. By RT-PCR, we detected TrkAI transcripts encoding for the high-affinity NGF receptor. Western blot analysis showed the presence of both TrkA and p75NGFR proteins. In normal thymuses, epithelial subcapsular and medullar cells were TrkA immunoreactive. Interdigitated medullar cells were stained for both TrkA and p75NGFR. While epithelial cells of normal thymuses or benign thymomas exhibited a TrkA positive-p75NGFR negative phenotype, a switch to a TrkA negative-p75NGFR positive phenotype was observed in malignant epithelial cell tumours and was associated with cell proliferation-associated MIB1 expression. Our results argue for a local role of NGF and its receptors on thymic stromal cells both in normal and neoplastic conditions.
Bulletin de l'Académie nationale de médecine, 2009
Chorionic villous sampling (CVS) has been available for more than twenty years. Together with amn... more Chorionic villous sampling (CVS) has been available for more than twenty years. Together with amniocentesis, it helps the cytogenetician to determine the fetal karyotype for prenatal diagnosis. The choice between these two methods depends on the team and the indication. CVS can now provide sufficient material for both histopathologic and cytogenetic analyses. We evaluated the accuracy of microscopic examination of CVS for detecting primary ovular, uteroplacental vascular (preeclampsia) and inflammatory disorders. Four hundred CVS were examined in the pathology laboratory of Pellegrin Hospital, Bordeaux, France, from January 1995 to February 2008. The results were analyzed according to the indication, the karyotype, the results of placental examination, pregnancy outcome and, when available (following spontaneous or medical termination), fetoplacental findings. The sample was representative of patients requiring CVS for prenatal diagnosis, with respect to maternal age, the stage of p...
Journal of craniofacial genetics and developmental biology
The aim of this study is to compare the theory of embryogenesis of the face with human diprosopia... more The aim of this study is to compare the theory of embryogenesis of the face with human diprosopia. This peculiar form of conjoined twinning is of great interest because 1) only the facial structures are duplicated and 2) almost all cases have a rather monomorphic pattern. The hypothesis is that an initial duplication of the notochord leads to two neural plates and subsequently duplicated neural crests. In those conditions, derivatives of the neural crests will be partially or totally duplicated; therefore, in diprosopia, the duplicated facial structures would be considered to be neural crest derivatives. If these structures are identical to those that are experimentally demonstrated to be neural crest derivatives in animals, these findings are an argument to apply this theory of facial embryogenesis in man. Serial horizontal sections of the face of two diprosopic fetuses (11 and 21 weeks gestation) were studied macro- and microscopically to determine the external and internal struct...
Archives of pathology & laboratory medicine, 1992
We report a case of idiopathic arterial calcification in a stillborn. As usually noted in this ra... more We report a case of idiopathic arterial calcification in a stillborn. As usually noted in this rare entity, the pregnancy was complicated by a polyhydramnios. The postmortem examination showed generalized arterial calcification, periarticular calcific deposits, and a large pleural hemorrhage. The causes of fetal hydrops in idiopathic infantile calcification are discussed, and, in the present case, the absence of myocardial ischemic lesion suggests that the fetal hydrops and the fetal death could have been caused by the bulky blood clot that was present in the right pleural cavity. The pathogenesis remains undetermined, but a primitive inherent defect of the elastic elements seems to initiate this disorder.
Archives françaises de pédiatrie, 1992
Comptes rendus des séances de la Société de biologie et de ses filiales, 1978
An original method for organ culture of human skin epithelial cells using as a support human skin... more An original method for organ culture of human skin epithelial cells using as a support human skin grafts obtained from the Human tissue Band of "C.H.R. de Bordeaux" is described. Methods and results of this technic which seems to represent a forward step relative to traditional practices are exposed.
Revue Française des Laboratoires, 1998
ABSTRACT Sirenomelia is a very rare malformation where etiology remains unclear. While the compre... more ABSTRACT Sirenomelia is a very rare malformation where etiology remains unclear. While the compression theory is now rejected by most authors, two hypotheses are still discussed : 1/ a caudal dysgenesis as part of the caudal regression syndrome and 2/ a vascular disruption : the aberrant umbilical artery would divert the blood flow from the caudal portion of the embryo to the placenta. We have analyzed the arterial vasculature of three sirenomelic fetuses by means of arteriography. The caudal arterial network differs clearly from one fetus to the other ; mainly, the higher the aberrant umbilical artery arises from the aorta, the more severe is the disturbance of the caudal development. These findings support the vascular disruption theory to explain the etiology of sirenomelia.
Prenatal Diagnosis, 2003
The aim of this study is to compare two-dimensional and three-dimensional ultrasound for the visu... more The aim of this study is to compare two-dimensional and three-dimensional ultrasound for the visualization and diagnosis of craniofacial dysmorphism. In this prospective study, we performed three-dimensional (3D) ultrasound following good-quality two-dimensional (2D) ultrasound in an at-risk population. Findings from 2D and 3D examination were noted. Our series included 41 patients. In 20 cases, 3D performed better than 2D, and in two cases 2D was more informative. In 9 cases, there was no difference between the performance of the two, and in two cases both 2D and 3D gave inadequate results. However, in 7 cases 3D images could not be obtained. Although it is rarely decisive, 3D ultrasound is of interest when it comes to the precise description of craniofacial dysmorphisms and the study of the fetal ears.
PLoS ONE, 2013
Objectives: Recent studies have shown that telomere length was significantly reduced in placentas... more Objectives: Recent studies have shown that telomere length was significantly reduced in placentas collected at delivery from pregnancies complicated by intrauterine growth restriction secondary to placental insufficiency. Placental telomere length measurement during ongoing pregnancies complicated by intrauterine growth restriction has never been reported. This was the main objective of our study.
Fetal & Pediatric Pathology, 1996
A collaborative study was performed to determine the different types and mechanisms of intestinal... more A collaborative study was performed to determine the different types and mechanisms of intestinal abnormalities during gestation. Cases had to fulfill one or more of the following three criteria: (1) meconium ileus, (2) intestinal stenosis or atresia, and (3) meconium peritonitis. Esophageal atresia, anorectal atresia, and abdominal wall defects were excluded. One hundred two cases were reviewed from the autopsies of 42 induced abortions, 22 stillborns, and the surgical findings in 38 neonates. Meconium ileus was detected mainly during the second trimester (28/38), and was associated with cystic fibrosis (15), fetal blood deglutition (4), infection (6), or multiple-abnormalities (10), in which three chromosomal aberrations were found. Intestinal stenosis or atresia was more commonly detected during the third trimester of gestation (46/56). Sixteen of the 30 duodenal malformations were associated with trisomy 21, whereas in the 26 small intestinal atresias, signs of distress or ischemia were most frequently detected. Only 8 of 25 meconium peritonitis cases were isolated. A total of 20 cystic fibrosis cases could be proved. In this series, functional abnormalities were observed predominantly in the second trimester and associated mainly with cystic fibrosis or amniotic fluid abnormalities. Anatomic lesions were commonly detected later on and associated with ischemic conditions, chromosomal aberrations, and even cystic fibrosis.
American Journal of Medical Genetics, 1999
Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is abnormally co... more Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is abnormally connected to the gonad. SGF may occur as an isolated condition or may be associated with other malformations, especially with terminal limb defects in what is called splenogonadal fusion limb defect (SGFLD) syndrome. In this article, we report on 5 new cases of SGFLD and we review the 25 cases reported since 1889. Most cases reviewed here have a combination of severe limb and oro-mandibular defects, suggesting that SGFLD may be related to the broader group of Hanhart complex. In addition, several cases have limb malformations and facial anomalies, which suggest that SGFLD overlaps with both femur-fibula-ulna dysostosis and femoral-facial syndrome. The hypothesis of a vascular disruptive event, occurring between the 5th and the 7th weeks of gestation, could explain the limb defects, the mandibular hypoplasia, and the fusion of the spleen to the gonad observed in SGFLD. However, this heterogenous and polytopic condition could also be the consequence of a primary field defect. All the cases to date reported have been sporadic and the recurrence risk is probably low. However, a recent case of Roberts syndrome with SGF was reported that suggests careful examination of chromosomal status.
The American Journal of Human Genetics, 2012
Human Pathology, Jun 1, 2004
In the past 20 years, the diagnosis of hydatidiform moles has become more difficult because of th... more In the past 20 years, the diagnosis of hydatidiform moles has become more difficult because of the widespread use of early uterine evacuation. Differentiating hydropic degeneration, partial, and complete moles is important because of their different prognosis. However, clinical diagnosis is less obvious, and the pathologist has to separate the different entities on the basis of very subtle morphologic criteria. In difficult cases, ploidy may be determined by various methods, including fluorescence in situ hybridization (FISH) on routine histological sections from paraffin-embedded specimens. However, FISH analysis is often difficult because of the presence of numerous truncated nuclei. In this context, we have tested the advantages of FISH on isolated nuclei, a well-known variant of the technique that might be more sensitive. We reviewed 24 cases of products of abortion: hydropic degenerations, complete hydatidi-form moles, partial moles, and nonmolar triploidies. After histological review, FISH on isolated nuclei proved conclusive in all cases. The results could be easily interpreted thanks to the reduced number of truncated nuclei. The percentage of cells with 2 signals was always >70% in the diploid cases and >60% in the triploid cases. In conclusion, this sensitive technique seems to be a valuable tool for the diagnosis of moles. HUM PATHOL 35:752-758.