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Article ; Online: Estrogen Actions in Placental Vascular Morphogenesis and Spiral Artery Remodeling: A Comparative View between Humans and Mice.

Rusidzé, Mariam / Gargaros, Adrien / Fébrissy, Chanaëlle / Dubucs, Charlotte / Weyl, Ariane / Ousselin, Jessie / Aziza, Jacqueline / Arnal, Jean-François / Lenfant, Françoise

Cells

2023 Volume 12, Issue 4

Abstract: Estrogens, mainly 17β-estradiol (E2), play a critical role in reproductive organogenesis, ovulation, and fertility via estrogen receptors. E2 is also a well-known regulator of utero-placental vascular development and blood-flow dynamics throughout ... ...

Abstract	Estrogens, mainly 17β-estradiol (E2), play a critical role in reproductive organogenesis, ovulation, and fertility via estrogen receptors. E2 is also a well-known regulator of utero-placental vascular development and blood-flow dynamics throughout gestation. Mouse and human placentas possess strikingly different morphological configurations that confer important reproductive advantages. However, the functional interplay between fetal and maternal vasculature remains similar in both species. In this review, we briefly describe the structural and functional characteristics, as well as the development, of mouse and human placentas. In addition, we summarize the current knowledge regarding estrogen actions during utero-placental vascular morphogenesis, which includes uterine angiogenesis, the control of trophoblast behavior, spiral artery remodeling, and hemodynamic adaptation throughout pregnancy, in both mice and humans. Finally, the estrogens that are present in abnormal placentation are also mentioned. Overall, this review highlights the importance of the actions of estrogens in the physiology and pathophysiology of placental vascular development.
MeSH term(s)	Humans ; Pregnancy ; Female ; Placenta/blood supply ; Estrogens ; Placentation ; Arteries ; Morphogenesis
Chemical Substances	Estrogens
Language	English
Publishing date	2023-02-14
Publishing country	Switzerland
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells12040620
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Article ; Online: Muscular phenotype description of abnormal THOC2 splicing.

Dubucs, Charlotte / Rendu, John / Michel-Calemard, Laurence / Menassa, Rita / Langeois, Maud / Nicaise, Yvan / Ousselin, Jessie / Aziza, Jacqueline / Uro-Coste, Emmanuelle

Neuromuscular disorders : NMD

2023 Volume 33, Issue 12, Page(s) 978–982

Abstract: Until recently, the disease known to be associated with THOC2 mutations was Intellectual developmental disorder, X-linked 12 (MIM300957). However, recently, fetal arthrogryposis multiplex congenita has been associated with a specific splice site mutation ...

Abstract	Until recently, the disease known to be associated with THOC2 mutations was Intellectual developmental disorder, X-linked 12 (MIM300957). However, recently, fetal arthrogryposis multiplex congenita has been associated with a specific splice site mutation in the THOC2 gene. We report a family with the same splice site mutation in the THOC2 gene involved in fetal arthrogryposis as well. We provide the first description of the muscular phenotype of this disease which reveals the presence of cytoplasmic bodies. Our findings expand the clinical phenotype of THOC2 gene related defects.
MeSH term(s)	Humans ; Arthrogryposis/diagnosis ; Arthrogryposis/genetics ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Mutation ; Phenotype ; RNA-Binding Proteins/genetics ; RNA Splicing ; Male ; Infant, Newborn
Chemical Substances	Thoc2 protein, human ; RNA-Binding Proteins
Language	English
Publishing date	2023-10-05
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1077681-3
ISSN	1873-2364 ; 0960-8966
ISSN (online)	1873-2364
ISSN	0960-8966
DOI	10.1016/j.nmd.2023.09.009
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Article ; Online: Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution.

Donzel, Marie / Gaillot-Durand, Lucie / Joubert, Madeleine / Aziza, Jacqueline / Beneteau, Claire / Mauduit, Claire / Ploteau, Stéphane / Hajri, Touria / Bolze, Pierre-Adrien / Massardier, Jérôme / Devouassoux-Shisheboran, Mojgan / Sunde, Lone / Allias, Fabienne

Virchows Archiv : an international journal of pathology

2023 Volume 483, Issue 5, Page(s) 709–715

Abstract: Hydatidiform moles (HMs) are divided into two types: partial hydatidiform mole (PHM) which is most often diandric monogynic triploid and complete hydatidiform mole (CHM) which is most often diploid androgenetic. Morphological features and p57 ... ...

Abstract	Hydatidiform moles (HMs) are divided into two types: partial hydatidiform mole (PHM) which is most often diandric monogynic triploid and complete hydatidiform mole (CHM) which is most often diploid androgenetic. Morphological features and p57 immunostaining are routinely used to distinguish both entities. Genetic analyses are required in challenging cases to determine the parental origin of the genome and ploidy. Some gestations cannot be accurately classified however. We report a case with atypical pathologic and genetic findings that correspond neither to CHM nor to PHM. Two populations of villi with divergent and discordant p57 expression were observed: morphologically normal p57 + villi and molar-like p57 discordant villi with p57 + stromal cells and p57 - cytotrophoblasts. Genotyping of DNA extracted from microdissected villi demonstrated that the conceptus was an androgenetic/biparental mosaic, originating from a zygote with triple paternal contribution, and that only the p57 - cytotrophoblasts were purely androgenetic, increasing the risk of neoplastic transformation.
MeSH term(s)	Pregnancy ; Female ; Humans ; Uterine Neoplasms/pathology ; Mosaicism ; Diploidy ; Genotype ; Cyclin-Dependent Kinase Inhibitor p57/genetics ; Cyclin-Dependent Kinase Inhibitor p57/metabolism ; Immunohistochemistry ; Hydatidiform Mole/genetics ; Hydatidiform Mole/metabolism
Chemical Substances	Cyclin-Dependent Kinase Inhibitor p57
Language	English
Publishing date	2023-09-11
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	1184867-4
ISSN	1432-2307 ; 0945-6317
ISSN (online)	1432-2307
ISSN	0945-6317
DOI	10.1007/s00428-023-03638-y
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Article: Severe Antenatal Hypertrophic Cardiomyopathy Secondary to

Dubucs, Charlotte / Aziza, Jacqueline / Sartor, Agnès / Heitz, François / Sevely, Annick / Sternberg, Damien / Jardel, Claude / Cavallé-Garrido, Tiscar / Albrecht, Steffen / Bernard, Chantal / De Bie, Isabelle / Chassaing, Nicolas

Molecular syndromology

2022 Volume 14, Issue 2, Page(s) 101–108

Abstract: Introduction: Antenatal presentation of hypertrophic cardiomyopathy (HCM) is rare. We describe familial recurrence of antenatal HCM associated with intrauterine growth restriction and the diagnostic process undertaken.: Methods: Two pregnancies with ... ...

Abstract	Introduction: Antenatal presentation of hypertrophic cardiomyopathy (HCM) is rare. We describe familial recurrence of antenatal HCM associated with intrauterine growth restriction and the diagnostic process undertaken. Methods: Two pregnancies with antenatal HCM were followed up. Biological assessment including metabolic analyses, genetic analyses, and respiratory chain study was performed. We describe the clinical course of these two pregnancies, antenatal manifestations as well as specific histopathological findings, and review the literature. Results: The assessment revealed a deficiency in complex I of the respiratory chain and two likely pathogenic variations in the Discussion and conclusion: Antenatal HCM is rare and a diagnosis is not always made. In pregnancies presenting with cardiomyopathy and intrauterine growth restriction, ACAD9 deficiency should be considered as one of the potential underlying diagnoses, and
Language	English
Publishing date	2022-10-21
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2546218-0
ISSN	1661-8777 ; 1661-8769
ISSN (online)	1661-8777
ISSN	1661-8769
DOI	10.1159/000526022
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Article ; Online: Severe placental lesions due to maternal SARS-CoV-2 infection associated to intrauterine fetal death.

Dubucs, Charlotte / Groussolles, Marion / Ousselin, Jessie / Sartor, Agnès / Van Acker, Nathalie / Vayssière, Christophe / Pasquier, Christophe / Reyre, Joëlle / Batlle, Laïa / Favarel Clinical Research Associate, Stèphanie / Duchanois Midwife, Delphine / Jauffret Clinical Research Associate, Valèrie / Courtade-Saïdi, Monique / Aziza, Jacqueline

Human pathology

2022 Volume 121, Page(s) 46–55

Abstract: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can cause severe placental lesions leading rapidly to intrauterine fetal death (IUFD). From August 2020 to September 2021, in the pathology department of Toulouse Oncopole, we ... ...

Abstract	Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can cause severe placental lesions leading rapidly to intrauterine fetal death (IUFD). From August 2020 to September 2021, in the pathology department of Toulouse Oncopole, we analyzed 50 placentas from COVID-19-positive unvaccinated mothers. The purpose of our study is to describe the clinicopathological characteristics of these placental damages and to understand the pathophysiology. Ten of them (20%) showed placental lesions with positive immunohistochemistry for SARS-CoV-2 in villous trophoblasts. In five cases (10%), we observed massive placental damage associating trophoblastic necrosis, fibrinous deposits, intervillositis, as well as extensive hemorrhagic changes due to SARS-CoV-2 infection probably responsible of IUFD by functional placental insufficiency. In five other cases, we found similar placental lesions but with a focal distribution that did not lead to IUFD but live birth. These lesions are independent of maternal clinical severity of COVID-19 infection because they occur despite mild maternal symptoms and are therefore difficult to predict. In our cases, they occurred 1-3 weeks after positive SARS-CoV-2 maternal real-time polymerase chain reaction testing and were observed in the 2nd and 3rd trimesters of pregnancies. When these lesions are focal, they do not lead to IUFD and can be involved in intrauterine growth restriction. Our findings, together with recent observations, suggest that future pregnancy guidance should include stricter pandemic precautions such as screening for a wider array of COVID-19 symptoms, enhanced ultrasound monitoring, as well as newborn medical surveillance.
MeSH term(s)	COVID-19/complications ; Female ; Fetal Death/etiology ; Humans ; Infant, Newborn ; Placenta/pathology ; Pregnancy ; Pregnancy Complications, Infectious/pathology ; SARS-CoV-2
Language	English
Publishing date	2022-01-05
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	207657-3
ISSN	1532-8392 ; 0046-8177
ISSN (online)	1532-8392
ISSN	0046-8177
DOI	10.1016/j.humpath.2021.12.012
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Article ; Online: Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains.

Rolland, Maude / Martin, Hélène / Bergamelli, Mathilde / Sellier, Yann / Bessières, Bettina / Aziza, Jacqueline / Benchoua, Alexandra / Leruez-Ville, Marianne / Gonzalez-Dunia, Daniel / Chavanas, Stéphane

The Journal of pathology

2021 Volume 254, Issue 1, Page(s) 92–102

Abstract: Congenital infection of the central nervous system by human cytomegalovirus (HCMV) is a leading cause of permanent sequelae, including mental retardation or neurodevelopmental abnormalities. The most severe complications include smooth brain or ... ...

Abstract	Congenital infection of the central nervous system by human cytomegalovirus (HCMV) is a leading cause of permanent sequelae, including mental retardation or neurodevelopmental abnormalities. The most severe complications include smooth brain or polymicrogyria, which are both indicative of abnormal migration of neural cells, although the underlying mechanisms remain to be determined. To gain better insight on the pathogenesis of such sequelae, we assessed the expression levels of a set of neurogenesis-related genes, using HCMV-infected human neural stem cells derived from embryonic stem cells (NSCs). Among the 84 genes tested, we found dramatically increased expression of the gene PAFAH1B1, encoding LIS1 (lissencephaly-1), in HCMV-infected versus uninfected NSCs. Consistent with these findings, western blotting and immunofluorescence analyses confirmed the increased levels of LIS1 in HCMV-infected NSCs at the protein level. We next assessed the migratory abilities of HCMV-infected NSCs and observed that infection strongly impaired the migration of NSCs, without detectable effect on their proliferation. Moreover, we observed increased immunostaining for LIS1 in brains of congenitally infected fetuses, but not in control samples, highlighting the clinical relevance of our findings. Of note, PAFAH1B1 mutations (resulting in either haploinsufficiency or gain of function) are primary causes of hereditary neurodevelopmental diseases. Notably, mutations resulting in PAFAH1B1 haploinsufficiency cause classic lissencephaly. Taken together, our findings suggest that PAFAH1B1 is a critical target of HCMV infection. They also shine a new light on the pathophysiological basis of the neurological outcomes of congenital HCMV infection, by suggesting that defective neural cell migration might contribute to the pathogenesis of the neurodevelopmental sequelae of infection. © 2021 The Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
MeSH term(s)	1-Alkyl-2-acetylglycerophosphocholine Esterase/metabolism ; Brain/metabolism ; Brain/virology ; Cytomegalovirus Infections/complications ; Cytomegalovirus Infections/congenital ; Cytomegalovirus Infections/metabolism ; Humans ; Microtubule-Associated Proteins/metabolism ; Neural Stem Cells/metabolism ; Neural Stem Cells/virology
Chemical Substances	Microtubule-Associated Proteins ; 1-Alkyl-2-acetylglycerophosphocholine Esterase (EC 3.1.1.47) ; PAFAH1B1 protein, human (EC 3.1.1.47)
Language	English
Publishing date	2021-03-24
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3119-7
ISSN	1096-9896 ; 0022-3417
ISSN (online)	1096-9896
ISSN	0022-3417
DOI	10.1002/path.5640
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Article: Une tumeur ovarienne rare de morphologie caractéristique.

Siegfried, Aurore / Selves, Janick / Delsol, Martine / Duga, Isabelle / Danjoux, Marie / Aziza, Jacqueline

Annales de pathologie

2015 Volume 35, Issue 6, Page(s) 540–542

Title translation	Specific morphology of a rare ovarian tumor.
MeSH term(s)	Child ; Female ; Genes, Dominant ; Humans ; Metrorrhagia/etiology ; Ovarian Neoplasms/complications ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; Ovarian Neoplasms/surgery ; Ovariectomy ; Peutz-Jeghers Syndrome/genetics ; Protein-Serine-Threonine Kinases/genetics ; Sex Cord-Gonadal Stromal Tumors/complications ; Sex Cord-Gonadal Stromal Tumors/diagnosis ; Sex Cord-Gonadal Stromal Tumors/genetics ; Sex Cord-Gonadal Stromal Tumors/pathology ; Sex Cord-Gonadal Stromal Tumors/surgery
Chemical Substances	STK11 protein, human (EC 2.7.1.-) ; Protein-Serine-Threonine Kinases (EC 2.7.11.1)
Language	French
Publishing date	2015-12
Publishing country	France
Document type	Case Reports ; Journal Article
ZDB-ID	225720-8
ISSN	0242-6498
ISSN	0242-6498
DOI	10.1016/j.annpat.2015.05.018
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Article ; Online: p57-discordant villi in hydropic products of conception: a clinicopathological study of 70 cases.

Gaillot-Durand, Lucie / Patrier, Sophie / Aziza, Jacqueline / Devisme, Louise / Riera, Anne-Claude / Marcorelles, Pascale / Pelluard, Fanny / Gasser, Bernard / Mauduit, Claire / Hajri, Touria / Massardier, Jérôme / Bolze, Pierre-Adrien / Golfier, François / Devouassoux-Shisheboran, Mojgan / Allias, Fabienne

Human pathology

2020 Volume 101, Page(s) 18–30

Abstract: p57 immunostaining is performed on hydropic products of conception to diagnose hydatidiform moles (HMs), which can progress to gestational trophoblastic neoplasia. Partial hydatidiform mole (PHM) and hydropic abortion (HA) display positive staining in ... ...

Abstract	p57 immunostaining is performed on hydropic products of conception to diagnose hydatidiform moles (HMs), which can progress to gestational trophoblastic neoplasia. Partial hydatidiform mole (PHM) and hydropic abortion (HA) display positive staining in stromal and cytotrophoblastic cells, whereas complete hydatidiform mole (CHM) is characterized by loss of p57 expression in both cell types. In some cases, an aberrant pattern is observed, called discordant p57 expression, with positive cytotrophoblast staining and negative stromal staining, or vice versa. The aim of this study was to describe the clinical, biological, and pathological characteristics of p57-discordant villi (p57DV) and other associated populations in cases of divergent p57 expression and to compare the evolutions of p57DV-associated and classic CHMs. Seventy cases of p57DV diagnosed by referent pathologists were divided into two groups, G1: p57DV ± non-CHM component (n = 22) and G2: p57DV + CHM component (n = 48). p57DV morphology was similar in the two groups. Observation of more than two populations and hybrid villi on p57 immunostaining were significantly more frequent in G2. The clinical, ultrasound, and biological presentations of p57DV-associated and classic CHMs were similar. The initial pathological diagnosis was more frequently incorrect, missing the CHM component, for the p57DV-associated CHMs. Molecular genotyping was informative in seven cases and identified as androgenetic/biparental mosaicism in four cases. These results show that p57DV are a diagnostic challenge for pathologists and that most are associated with a CHM component. However, the clinical management of p57DV-associated CHMs should be the same as that of classic CHMs.
MeSH term(s)	Biomarkers, Tumor/analysis ; Chorionic Villi/metabolism ; Chorionic Villi/pathology ; Cyclin-Dependent Kinase Inhibitor p57/analysis ; Female ; Humans ; Hydatidiform Mole/diagnosis ; Hydatidiform Mole/pathology ; Mosaicism ; Pregnancy ; Uterine Neoplasms/diagnosis ; Uterine Neoplasms/pathology
Chemical Substances	Biomarkers, Tumor ; CDKN1C protein, human ; Cyclin-Dependent Kinase Inhibitor p57
Language	English
Publishing date	2020-05-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	207657-3
ISSN	1532-8392 ; 0046-8177
ISSN (online)	1532-8392
ISSN	0046-8177
DOI	10.1016/j.humpath.2020.04.011
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Article: Les difficultés diagnostiques liées aux Polyomavirus en cytologie urinaire.

Courtade-Saïdi, Monique / Aziza, Jacqueline / Collin, Laetitia / d'Aure, Dominique

Annales de pathologie

2010 Volume 30, Issue 3, Page(s) 176–181

Abstract: Specific cytopathologic changes represent an important tool for the identification of a viral infection. After primary infection, generally during childhood, BK and JC polyomaviruses often remain latent within the urinary tract and can reactivate along ... ...

Title translation	Urine cytology pitfalls due to Polyomaviruses.
Abstract	Specific cytopathologic changes represent an important tool for the identification of a viral infection. After primary infection, generally during childhood, BK and JC polyomaviruses often remain latent within the urinary tract and can reactivate along life. These reactivations are usually encountered in immunosuppressed patients. In renal transplanted recipients, BK virus may cause a polyomavirus nephropathy inducing sometimes graft loss. A good morphologic sign of reactivation is characterized by the shedding in urine of viral-infected cells called decoy cells. The latter are easily identified in urine from renal transplanted patients but in other circumstances, they may be misdiagnosed as high-grade urothelial carcinoma cells. Correct cytological identification of decoy cells, confirmation of the diagnosis by urine PCR analysis and use of immunocytochemistry with anti-SV40 antibody are of good value for differential diagnosis in most cases. However, polyomavirus reactivation and urothelial carcinoma cells may be observed in the same urine specimen. The possible involvement of BK or JC virus in the pathogenesis of human urogenital tumors has been suggested by some studies but is not yet conclusively resolved.
MeSH term(s)	Humans ; Polyomavirus ; Polyomavirus Infections/pathology ; Tumor Virus Infections/pathology ; Urine/cytology
Language	French
Publishing date	2010-06
Publishing country	France
Document type	English Abstract ; Journal Article
ZDB-ID	225720-8
ISSN	0242-6498
ISSN	0242-6498
DOI	10.1016/j.annpat.2010.02.003
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Article ; Online: Melanotic neuroectodermal tumour of infancy: a case report and review of the aetiopathogenic hypotheses.

Madrid, Carlos / Aziza, Jacqueline / Hlali, Anasse / Bouferrache, Kahina / Abarca, Marcelo

Medicina oral, patologia oral y cirugia bucal

2010 Volume 15, Issue 5, Page(s) e739–42

Abstract: The case of a 2-month-old healthy infant without relevant medical history. The patient was referred due to the aggravation of a swelling occupying the left half of the anterior maxilla. This lesion became visible approximately one month ago; it involved ... ...

Abstract	The case of a 2-month-old healthy infant without relevant medical history. The patient was referred due to the aggravation of a swelling occupying the left half of the anterior maxilla. This lesion became visible approximately one month ago; it involved the buccal gingiva and alveolar bone, including the deciduous tooth germs 6.1 and 6.2. The swelling had dimensions of 20 mm x 20 mm. The surgical excision was performed under general anesthesia. The tooth buds of 6.1 and 6.2 were closely related to the tumour and so were removed. The lesion was entirely enucleated. The pathology of the lesion confirmed a melanotic neuroectodermal tumour of infancy. The melanotic neuroectodermal tumour of infancy (MNTI) has been described as a rare benign pigmented painless swelling that usually occurs in the anterior region of the maxilla and in the incisor region. The histological examination showed small basophilic cells, many containing melanin pigmentation within the cytoplasm, with a second population of larger cubical cells with abundant cytoplasm, arranged in alveolar or adenoid clusters. According to Krompecher this tumour derives from epithelial nests evolved at the time of embryonic fusion of the facial processes. It has also been suggested that the tumour arises from the retinal anlage by a pinching-off process of neuroepithelium during the formation of embryonic eye. More recently, the presence of high levels of vanillylmandelic acid suggest a neural origin of the tumour.
MeSH term(s)	Humans ; Infant ; Maxillary Neoplasms/diagnosis ; Maxillary Neoplasms/surgery ; Neuroectodermal Tumor, Melanotic/diagnosis ; Neuroectodermal Tumor, Melanotic/surgery
Language	English
Publishing date	2010-09-01
Publishing country	Spain
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2171573-7
ISSN	1698-6946 ; 1698-4447
ISSN (online)	1698-6946
ISSN	1698-4447
DOI	10.4317/medoral.15.e739
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