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Article ; Online: PHOX2B Immunostaining: A Simple and Helpful Tool for the Recognition of Ganglionic Cells and Diagnosis of Hirschsprung Disease.

Drabent, Philippe / Bonnard, Arnaud / Guimiot, Fabien / Peuchmaur, Michel / Berrebi, Dominique

The American journal of surgical pathology

2020 Volume 44, Issue 10, Page(s) 1389–1397

Abstract: Hirschsprung disease (HD) is a congenital disorder of the enteric nervous system that occurs in ∼1 in 5000 live births. It is characterized by the absence of ganglionic cells (GCs) in the distal intestine. The diagnosis relies on the thorough analysis of ...

Abstract	Hirschsprung disease (HD) is a congenital disorder of the enteric nervous system that occurs in ∼1 in 5000 live births. It is characterized by the absence of ganglionic cells (GCs) in the distal intestine. The diagnosis relies on the thorough analysis of a rectal suction biopsy (RSB), which must show a complete absence of GCs after careful examination of at least 100 serial sections. Such a negative characteristic explains the difficulty of this diagnosis. Moreover, GCs may be immature in very young or preterm born children, making them hard to recognize. Therefore, ancillary techniques have been developed as diagnostic help, such as acetylcholinesterase histochemistry and calretinin immunostaining. These techniques reveal only indirect clues, focusing mainly on the changes in nerve fibers, but not on GCs themselves. As PHOX2B has been shown to be a very specific transcription factor in GCs and in progenitor enteric nerve cells, we have assessed (i) PHOX2B immunostaining in immature enteric ganglia and (ii) the use of PHOX2B immunostaining for the recognition of GCs on RSBs for suspicion of HD. We have observed PHOX2B expression in all GCs, both mature and immature, and its complete absence in Hirschsprung cases. We suggest that the use of PHOX2B immunostaining is of great help (i) in the recognition of GCs on RSBs regardless of their differentiation and therefore (ii) in the diagnosis of HD.
MeSH term(s)	Biomarkers/analysis ; Enteric Nervous System/pathology ; Female ; Fetus ; Hirschsprung Disease/diagnosis ; Hirschsprung Disease/pathology ; Homeodomain Proteins/analysis ; Homeodomain Proteins/biosynthesis ; Humans ; Immunohistochemistry/methods ; Infant, Newborn ; Male ; Transcription Factors/analysis ; Transcription Factors/biosynthesis
Chemical Substances	Biomarkers ; Homeodomain Proteins ; NBPhox protein ; Transcription Factors
Language	English
Publishing date	2020-07-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	752964-8
ISSN	1532-0979 ; 0147-5185
ISSN (online)	1532-0979
ISSN	0147-5185
DOI	10.1097/PAS.0000000000001528
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Article ; Online: Is magnetic resonance imaging reliable for assessing osteosarcoma of the knee joint in children?

Simon, Anne-Laure / Hallé, Aurélien / Tanase, Anca / Peuchmaur, Michel / Jehanno, Pascal / Ilharreborde, Brice

Orthopaedics & traumatology, surgery & research : OTSR

2021 Volume 109, Issue 3, Page(s) 103086

Abstract: Introduction: The study of tumor extension in knee osteosarcomas is an essential diagnostic tool that helps determine the surgical approach. Magnetic resonance imaging (MRI) is the key component in this decision-making process, but the interpretation of ...

Abstract	Introduction: The study of tumor extension in knee osteosarcomas is an essential diagnostic tool that helps determine the surgical approach. Magnetic resonance imaging (MRI) is the key component in this decision-making process, but the interpretation of signals can be difficult because peritumoral edema and inflammation may be mistaken for the tumor. Hypothesis: There is a discrepancy between MRI and histopathology findings in the assessment of joint involvement in pediatric osteosarcomas of the knee. Materials and methods: All children who underwent an extra-articular resection for an osteosarcoma of the knee between 2007 and 2016 were included. This was indicated if there was at least one of the following MRI signs: presence of articular effusion, involvement of either the peripheral capsuloligamentous structures, central pivot or patella, or lesion abutting the articular cartilage. Results: Nine patients were operated on with a mean age of 13±2.7 years. There were at least two of the described signs, mainly the involvement of the peripheral capsuloligamentous structures (78%) and central pivot (56%). The histopathology confirmed that the resection margins were healthy in all cases, but the indication for extra-articular resection could have been avoided in 89% of them. Discussion: MRI is the current gold standard for assessing tumor extension, but the signs contraindicating the transarticular approach remain poorly defined. Joint effusion detected by clinical or radiological assessment is the least reliable one. It seems that the tumor's proximity to the articular cartilage, as long as there is no loss of continuity in the latter, or its extension into the central pivot should no longer be considered as relevant signs. The involvement of the peripheral capsuloligamentous structure remains an indication criterion because oncologic resection is otherwise impossible, and the risk of false-negative histopathologic diagnoses is higher. Other MRI sequences could better assess the true extension into the joint space. Level of evidence: IV, retrospective study.
MeSH term(s)	Humans ; Child ; Adolescent ; Retrospective Studies ; Knee Joint/surgery ; Magnetic Resonance Imaging/methods ; Osteosarcoma/surgery ; Cartilage, Articular/pathology ; Bone Neoplasms/surgery
Language	English
Publishing date	2021-09-29
Publishing country	France
Document type	Journal Article
ISSN	1877-0568
ISSN (online)	1877-0568
DOI	10.1016/j.otsr.2021.103086
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Article ; Online: Rare Collagenous Heterozygote Variants in Children With IgA Nephropathy.

Cambier, Alexandra / Robert, Thomas / Hogan, Julien / Rabant, Marion / Peuchmaur, Michel / Boyer, Olivia / Ulinski, Tim / Monteiro, Renato C / Mesnard, Laurent

Kidney international reports

2021 Volume 6, Issue 5, Page(s) 1326–1335

Abstract: Introduction: Childhood IgA nephropathy (cIgAN) is a primary glomerulonephritis clinically characterized by microscopic hematuria and proteinuria, the presence of which may potentially overlap with Alport syndrome. Interestingly, earlier studies ... ...

Abstract	Introduction: Childhood IgA nephropathy (cIgAN) is a primary glomerulonephritis clinically characterized by microscopic hematuria and proteinuria, the presence of which may potentially overlap with Alport syndrome. Interestingly, earlier studies suggested that familial IgAN could be linked to the chromosome 2q36 region, also the coding region for collagen type 4 alpha 3/4 (COL4A3/A4). Methods: To investigate a possible relationship or phenocopy between Alport syndrome and cIgAN, COL4A3, COL4A4, and COL4A5 exons were sequenced in 36 cIgAN patients. Clinical data and treatment were collected retrospectively. COL4A3/A4/A5 variants were classified according to American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) guidelines. Results: Four of 36 cIgAN patients were affected by ACMG class 4/5 COL4A3 heterozygous variants (COL4A3-cIgAN). We found no COL4A4 or COL4A5 variant. Despite having rare and deleterious COL4A3 variants, 3 of 4 COL4A3-cIgAN children developed clinical and biologic features of active IgAN rather than Alport syndrome. Response to intensive immunosuppressive treatment was favorable, leading to a reduction of endocapillary and extracapillary proliferation lesions. High levels of immune immunoglobulin G and A (IgG/IgA) complexes, reduction of proteinuria, and gradual stabilization of estimated glomerular filtration rate (eGFR) argued against Alport syndrome. Nevertheless, COL4A3-cIgAN patients seemed predisposed to a more serious IgAN presentation compared with the non‒COL4A3-cIgAN group, with more glomerulosclerosis and a lower eGFR over time. One of the 4 patients underwent kidney transplant with subsequent IgAN recurrence. Conclusions: Predisposition factors for developing serious cIgAN flare-up should be considered for cIgAN with COL4A3 pathologic heterozygous variants. COL4A3 variants, usually responsible for Alport syndrome in adults, should not automatically exclude an immunosuppressive regimen in cIgAN. Moreover, evidence of an ACMG class 4/5 COL4A3 variant in early-stage cIgAN could be a helpful tool for stratifying severity of cIgAN beyond the Oxford classification.
Language	English
Publishing date	2021-03-03
Publishing country	United States
Document type	Journal Article
ISSN	2468-0249
ISSN (online)	2468-0249
DOI	10.1016/j.ekir.2021.02.022
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Article: La maladie de Hirschsprung: trois gènes pour un tube bien rythmé

Peuchmaur, Michel

Gastroenterologie clinique et biologique

2002 Volume 26, Issue 12, Page(s) 1107–1109

Title translation	Hirschsprung's disease: and then three loci.
MeSH term(s)	Chromosome Mapping/methods ; Chromosomes, Human, Pair 10/genetics ; Chromosomes, Human, Pair 19/genetics ; Chromosomes, Human, Pair 3/genetics ; Hirschsprung Disease/genetics ; Humans ; Mutation/genetics
Language	French
Publishing date	2002-12
Publishing country	France
Document type	Journal Article
ZDB-ID	752002-5
ISSN	0399-8320
ISSN	0399-8320
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Zs.A 1346: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 19: Show issues
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Article: Hétérotopie gliale pulmonaire : une lésion exceptionnelle chez un nourrisson avec un jumeau anencéphale.

Tournier, Louis / Berrebi, Dominique / Peuchmaur, Michel / Bonnard, Arnaud / Belarbi, Nadia / Sibony, Olivier / Morcrette, Guillaume

Annales de pathologie

2018 Volume 39, Issue 1, Page(s) 24–28

Abstract: Pulmonary glial heterotopia is an extremely rare entity whose pathophysiology remains unclear. We report for the first time one case of pulmonary glial heterotopia occured in a one-month baby free from any malformation. She has the particularity of being ...

Title translation	Pulmonary glial heterotopia: Unique lesion in an infant with anencephalic twin.
Abstract	Pulmonary glial heterotopia is an extremely rare entity whose pathophysiology remains unclear. We report for the first time one case of pulmonary glial heterotopia occured in a one-month baby free from any malformation. She has the particularity of being born from monozygotic monochorionic twin pregnancy where her anencephalic exencephalic sister suffered a medical termination of pregnancy. She presented neonatal respiratory distress, which recurred one month later. Chest X-ray revealed bilateral cystic pulmonary lesions mainly located in the right lung. Given the suspicion of congenital cystic adenomatoid malformation (CCAM), she underwent an upper and a lower right lung lobectomy at four months old. The pathological study found a multi-cystic lesion consisted of well-differentiated and poorly cellular glial tissue sometimes lined by bronchic epithelium. There was no pathological evidence for a CCAM. The evolution was favorable after surgery with an infant who was well five months later. This is one of the very few cases where the disease did not lead to rapid death in utero or during the perinatal period. This suggests that effective management by surgery could be a decisive factor in the survival of these patients.
MeSH term(s)	Anencephaly ; Choristoma/pathology ; Diseases in Twins/pathology ; Female ; Humans ; Infant ; Lung Diseases/pathology ; Neuroglia
Language	French
Publishing date	2018-12-12
Publishing country	France
Document type	Case Reports ; Journal Article
ZDB-ID	225720-8
ISSN	0242-6498
ISSN	0242-6498
DOI	10.1016/j.annpat.2018.08.006
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Zs.A 1652: Show issues

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Article ; Online: Remission of proteinuria in multidrug-resistant idiopathic nephrotic syndrome following immunoglobulin immunoadsorption.

Nattes, Elodie / Karaa, Danièle / Dehoux, Laurène / Peuchmaur, Michel / Kwon, Theresa / Deschênes, Georges

Acta paediatrica (Oslo, Norway : 1992)

2018 Volume 108, Issue 4, Page(s) 757–762

Abstract: Aim: Complete or partial resistance to prednisone and calcineurin inhibitors in children with idiopathic nephrotic syndrome often leads to end-stage renal disease. The aim of the study was to report the outcome of patients with multidrug-resistant ... ...

Abstract	Aim: Complete or partial resistance to prednisone and calcineurin inhibitors in children with idiopathic nephrotic syndrome often leads to end-stage renal disease. The aim of the study was to report the outcome of patients with multidrug-resistant nephrotic syndrome treated with an association of immunoglobulin immunoadsorption, intravenous immunoglobulins and B-cell depletion. Methods: At treatment initiation, patients received ten sessions of immunoglobulin immunoadsorption and intravenous immunoglobulins in two weeks followed by one rituximab in case of remission. Results: A remission of proteinuria was obtained in nine out of 14 patients at the end of the initial phase and in two additional patients after an extended period. The remission was stable in three patients and after additional IgIA and heavy immunosuppression in six. Two patients that initially responded relapsed after IgIA withdrawal and remained with an uncontrolled disease at last follow-up. Three patients did not respond to the treatment including two who were found to have a genetic podocytopathy. Conclusion: Patients with multidrug-resistant idiopathic nephrotic syndrome can be successfully led into remission by IgIA prior to reaching end-stage renal disease. However, IgIA does not suppress the need for heavy additional immunosuppression to control INS in most cases.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Drug Resistance, Multiple ; Female ; Humans ; Immunoglobulins ; Infant ; Male ; Nephrotic Syndrome/drug therapy ; Nephrotic Syndrome/therapy ; Plasmapheresis ; Proteinuria/etiology ; Proteinuria/therapy ; Remission Induction ; Retrospective Studies
Chemical Substances	Immunoglobulins
Language	English
Publishing date	2018-10-15
Publishing country	Norway
Document type	Journal Article
ZDB-ID	203487-6
ISSN	1651-2227 ; 0365-1436 ; 0803-5253
ISSN (online)	1651-2227
ISSN	0365-1436 ; 0803-5253
DOI	10.1111/apa.14582
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Um IV Zs.95: Show issues

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Article ; Online: Nephrotic-range proteinuria and brown urine in an 8-year-old girl: Questions.

Saucier, Emilie / Hogan, Julien / Peuchmaur, Michel / Deschênes, Georges / Baruchel, Andre / Karava, Vasiliki

Pediatric nephrology (Berlin, Germany)

2017 Volume 33, Issue 6, Page(s) 1001–1002

MeSH term(s)	Child ; Female ; Humans ; Kidney/pathology ; Proteinuria/etiology ; Purpura, Schoenlein-Henoch/diagnosis ; Urinalysis/methods
Language	English
Publishing date	2017-09-18
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-017-3795-0
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Article ; Online: Nephrotic-range proteinuria and brown urine in an 8-year-old girl: Answers.

Saucier, Emilie / Hogan, Julien / Peuchmaur, Michel / Deschênes, Georges / Baruchel, Andre / Karava, Vasiliki

Pediatric nephrology (Berlin, Germany)

2017 Volume 33, Issue 6, Page(s) 1003–1005

MeSH term(s)	Child ; Diagnosis, Differential ; Female ; Hemoglobinuria, Paroxysmal/diagnosis ; Hemoglobinuria, Paroxysmal/drug therapy ; Humans ; Proteinuria/etiology ; Purpura, Schoenlein-Henoch/diagnosis ; Urinalysis/methods
Language	English
Publishing date	2017-09-18
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-017-3797-y
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Article: Une fièvre inexpliquée.

Tordjman, Mickael / Sommet, Julie / Rega, Adelaide / Benkerrou, Malika / Berrebi, Dominique / Peuchmaur, Michel

Annales de pathologie

2017 Volume 37, Issue 6, Page(s) 495–498

Title translation	An unexplained fever.
MeSH term(s)	Adolescent ; Anemia, Sickle Cell/complications ; Diagnosis, Differential ; Female ; Fever of Unknown Origin/etiology ; Hematologic Diseases/diagnosis ; Histiocytic Necrotizing Lymphadenitis/complications ; Histiocytic Necrotizing Lymphadenitis/diagnosis ; Histiocytic Necrotizing Lymphadenitis/pathology ; Humans ; Lymphadenopathy/etiology ; Lymphadenopathy/pathology
Language	French
Publishing date	2017-11-15
Publishing country	France
Document type	Case Reports ; Journal Article
ZDB-ID	225720-8
ISSN	0242-6498
ISSN	0242-6498
DOI	10.1016/j.annpat.2017.10.008
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Article ; Online: A variant of ASIC2 mediates sodium retention in nephrotic syndrome.

Fila, Marc / Sassi, Ali / Brideau, Gaëlle / Cheval, Lydie / Morla, Luciana / Houillier, Pascal / Walter, Christine / Gennaoui, Michel / Collignon, Laure / Keck, Mathilde / Planelles, Gabrielle / Bakouh, Naziha / Peuchmaur, Michel / Deschênes, Georges / Anegon, Ignacio / Remy, Séverine / Vogt, Bruno / Crambert, Gilles / Doucet, Alain

JCI insight

2021 Volume 6, Issue 15

Abstract: Idiopathic nephrotic syndrome (INS) is characterized by proteinuria and renal sodium retention leading to edema. This sodium retention is usually attributed to epithelial sodium channel (ENaC) activation after plasma aldosterone increase. However, most ... ...

Abstract	Idiopathic nephrotic syndrome (INS) is characterized by proteinuria and renal sodium retention leading to edema. This sodium retention is usually attributed to epithelial sodium channel (ENaC) activation after plasma aldosterone increase. However, most nephrotic patients show normal aldosterone levels. Using a corticosteroid-clamped (CC) rat model of INS (CC-PAN), we showed that the observed electrogenic and amiloride-sensitive Na retention could not be attributed to ENaC. We then identified a truncated variant of acid-sensing ion channel 2b (ASIC2b) that induced sustained acid-stimulated sodium currents when coexpressed with ASIC2a. Interestingly, CC-PAN nephrotic ASIC2b-null rats did not develop sodium retention. We finally showed that the expression of the truncated ASIC2b in the kidney was dependent on the presence of albumin in the tubule lumen and activation of ERK in renal cells. Finally, the presence of ASIC2 mRNA was also detected in kidney biopsies from patients with INS but not in any of the patients with other renal diseases. We have therefore identified a variant of ASIC2b responsible for the renal Na retention in the pathological context of INS.
MeSH term(s)	Acid Sensing Ion Channels/metabolism ; Albumins/metabolism ; Animals ; Disease Models, Animal ; Gene Expression Profiling ; Homeostasis ; Kidney/metabolism ; Kidney/pathology ; MAP Kinase Signaling System ; Nephrotic Syndrome/blood ; Nephrotic Syndrome/metabolism ; Proteinuria/metabolism ; Rats ; Sodium/blood ; Sodium/metabolism ; Sodium Channels/metabolism
Chemical Substances	Acid Sensing Ion Channels ; Albumins ; Asic2 protein, rat ; Sodium Channels ; Sodium (9NEZ333N27)
Language	English
Publishing date	2021-08-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2379-3708
ISSN (online)	2379-3708
DOI	10.1172/jci.insight.148588
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