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Article ; Online: Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.

Soreze, Yohan / Nathan, Nadia / Jegard, Julien / Hervieux, Erik / Clermidi, Pauline / Sileo, Chiara / Louvrier, Camille / Legendre, Marie / Coulomb L'Herminé, Aurore

Neonatology

2023 Volume 121, Issue 1, Page(s) 133–136

Abstract: Acinar dysplasia (AcDys) is one of the three main diffuse developmental disorders of the lung. The transcription factor NK2 homeobox 1 (NKX2.1) partly controls the synthesis of surfactant proteins by type 2 alveolar epithelial cells (AEC2), and germline ... ...

Abstract	Acinar dysplasia (AcDys) is one of the three main diffuse developmental disorders of the lung. The transcription factor NK2 homeobox 1 (NKX2.1) partly controls the synthesis of surfactant proteins by type 2 alveolar epithelial cells (AEC2), and germline mutations are known to be associated with brain-lung thyroid syndrome. We report the case of a full-term neonate who developed refractory respiratory failure with pulmonary hypertension requiring venoarterial extracorporeal membrane oxygenation. Histological examination of the lung biopsy specimen was consistent with the diagnosis of AcDys. Molecular analyses led to the identification of the missense heterozygous variant in NKX2.1 (NM_001079668) c.731A>G p.(Tyr244Cys), which is predicted to be pathogenic. After 5 weeks, because AcDys is a fatal disorder and the patient's status worsened, life-sustaining therapies were withdrawn, and she died after a few hours. This study is the first to extend the phenotype of NKX2.1 pathogenic variant, to a fatal form of AcDys.
MeSH term(s)	Infant, Newborn ; Female ; Humans ; Mutation ; Lung/metabolism ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Respiratory Insufficiency/genetics ; Respiratory Insufficiency/therapy ; Respiratory Distress Syndrome, Newborn/diagnosis ; Respiratory Distress Syndrome, Newborn/genetics
Chemical Substances	Transcription Factors
Language	English
Publishing date	2023-11-30
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2266911-5
ISSN	1661-7819 ; 1661-7800
ISSN (online)	1661-7819
ISSN	1661-7800
DOI	10.1159/000534076
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Article ; Online: Dextranomer Endoscopic Injections for the Treatment of Urinary Incontinence in Bladder Exstrophy-epispadias Complex.

Fiorenza, Venusia / Hukkinen, Maria / Alova, Ilona / Clermidi, Pauline / Broch, Aline / Botto, Nathalie / Blanc, Thomas / Lottmann, Henri B

The Journal of urology

2022 Volume 209, Issue 3, Page(s) 591–599

Abstract: Purpose: Since bladder neck dextranomer/hyaluronic acid copolymer (Deflux) injections can improve urinary incontinence of various etiologies, we hypothesized that incontinent children with bladder exstrophy-epispadias complex would benefit from ... ...

Abstract	Purpose: Since bladder neck dextranomer/hyaluronic acid copolymer (Deflux) injections can improve urinary incontinence of various etiologies, we hypothesized that incontinent children with bladder exstrophy-epispadias complex would benefit from dextranomer/hyaluronic acid copolymer. We aimed to analyze dextranomer/hyaluronic acid copolymer efficacy and predictors of treatment success in bladder exstrophy-epispadias complex. Materials and methods: Incontinent bladder exstrophy-epispadias complex children aged >4 years undergoing dextranomer/hyaluronic acid copolymer injections in our hospital between October 1997 and January 2021 were included. Medical history, continence, and bladder capacity before injections were recorded. Postoperatively, patients were categorized as "dry," "significantly improved," or "failure." Postoperative complications, bladder emptying mode, and bladder capacity were reported. Failure-free survival was estimated by Kaplan-Meier models. Results: Altogether, 58 patients (27 male epispadias, 9 female epispadias, 22 bladder exstrophy) underwent 105 injections at median age of 8.5 (interquartile range 5.8-12) years. Previous bladder neck reconstruction had been performed in 38 (66%) and 33 (57%) received multiple injections. Complications occurred in 9%. Five-year failure-free survival was 70% (standard error 9.1) in males epispadias compared to 45% (9.0) in females and exstrophy patients ( Conclusions: Dextranomer/hyaluronic acid copolymer injections provided satisfactory and lasting continence in over half of bladder exstrophy-epispadias complex patients. While injections were successful in male epispadias regardless of bladder neck reconstruction timing, results were better in bladder exstrophy and female epispadias after previous bladder neck reconstruction.
MeSH term(s)	Child ; Humans ; Male ; Female ; Child, Preschool ; Urinary Bladder/surgery ; Bladder Exstrophy/complications ; Bladder Exstrophy/surgery ; Epispadias/complications ; Epispadias/surgery ; Hyaluronic Acid ; Urinary Incontinence/therapy ; Urinary Incontinence/surgery
Chemical Substances	dextranomer (30KXI0TVD3) ; Hyaluronic Acid (9004-61-9)
Language	English
Publishing date	2022-11-30
Publishing country	United States
Document type	Journal Article
ZDB-ID	3176-8
ISSN	1527-3792 ; 0022-5347
ISSN (online)	1527-3792
ISSN	0022-5347
DOI	10.1097/JU.0000000000003086
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Ui VI Zs.91: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article: Financial and relational impact of having a boy with posterior urethral valves.

Harper, Luke / Botto, Nathalie / Peycelon, Matthieu / Michel, Jean-Luc / Leclair, Marc-David / Garnier, Sarah / Clermidi, Pauline / Arnaud, Alexis / Dariel, Anne / Dobremez, Eric / Faure, Alice / Fourcade, Laurent / Boudaoud, Nadia / Chaussy, Yann / Huiart, Laetitia / Bocquet, Valery / Ferdynus, Cyril / Sauvat, Frédérique

Frontiers in pediatrics

2023 Volume 11, Page(s) 1228248

Abstract: Introduction: Childhood chronic diseases affect family functioning and well-being. The aim of this study was to measure the impact of caring for a child with PUV, and the factors that most impact the burden of care.: Patients and method: We gave a ... ...

Abstract	Introduction: Childhood chronic diseases affect family functioning and well-being. The aim of this study was to measure the impact of caring for a child with PUV, and the factors that most impact the burden of care. Patients and method: We gave a questionnaire on the familial impact of having a child with posterior urethral valves to all parents of a child included in the CIRCUP trial from 2015 onwards. The questionnaire included questions about the parents' demographics, health, professional, financial and marital status and how these evolved since the child's birth as well as the "impact on family scale" (IOFS), which gives a total score ranging from 15 (no impact) to 60 (maximum impact). We then analyzed both the results of the specific demographic questions as well as the factors which influenced the IOFS score. Results: We retrieved answers for 38/51 families (74.5% response rate). The average IOFS score was 23.7 (15-51). We observed that the child's creatinine level had an effect on the IOFS score ( Conclusion: In conclusion, having a boy with PUV significantly impacts families. The risk of parental separation and decrease in revenue is significant. Strategies aiming to decrease these factors should be put in place as soon as possible.
Language	English
Publishing date	2023-08-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2023.1228248
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Article ; Online: Sigmoid Volvulus: An Underestimated Cause of Intestinal Obstruction in Cornelia de Lange Syndrome.

Clermidi, Pauline / Abadie, Véronique / Campeotto, Florence / Irtan, Sabine

The Journal of pediatrics

2015 Volume 167, Issue 4, Page(s) 941–941.e1

MeSH term(s)	Anastomosis, Surgical ; Child ; De Lange Syndrome/complications ; De Lange Syndrome/diagnosis ; De Lange Syndrome/diagnostic imaging ; Female ; Humans ; Intestinal Obstruction/complications ; Intestinal Obstruction/diagnostic imaging ; Intestinal Volvulus/complications ; Intestinal Volvulus/diagnosis ; Intestinal Volvulus/diagnostic imaging ; Radiography, Abdominal ; Recurrence ; Sigmoidoscopy ; Tomography, X-Ray Computed ; Treatment Outcome
Language	English
Publishing date	2015-10
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/j.jpeds.2015.07.008
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Article ; Online: Safety Assessment for Thoracoscopic Day Case Surgery in Children with Congenital Pulmonary Malformation.

Mariani, Aurora / Peycelon, Matthieu / Clermidi, Pauline / Bellon, Myriam / Skhiri, Alia / Bonnard, Arnaud

Journal of laparoendoscopic & advanced surgical techniques. Part A

2018 Volume 28, Issue 9, Page(s) 1129–1134

Abstract: Background: No data exist evaluating the utilization and safety of outpatient thoracoscopy in children. The aim of this study was to investigate the safety of outpatient thoracoscopy and to assess parental opinions on the advantages and disadvantages of ...

Abstract	Background: No data exist evaluating the utilization and safety of outpatient thoracoscopy in children. The aim of this study was to investigate the safety of outpatient thoracoscopy and to assess parental opinions on the advantages and disadvantages of a pediatric thoracoscopy outpatient setting. Methods: A retrospective review of data from patients treated by thoracoscopy for congenital pulmonary malformation between 2013 and 2016 was performed. Study focused on patients who underwent outpatient thoracoscopy. All were placed in a flank position and underwent a three-port (5-mm optical trocar and two 5-mm trocars) thoracoscopy. Insufflation pressure required was 5 mmHg with bilateral lung ventilation. Pain control was provided with multimodal postoperative analgesia and the use of paravertebral block for regional analgesia. No drain was inserted. Outcomes of interest included 30-day overall morbidity, readmission, reoperation, and parental opinions through a phone call questionnaire. Results: A total of 37 thoracoscopies were identified; 11 (30%) with a median age of 5.3 months (4.2-12.3) were performed as an outpatient procedure (10 sequestration, 1 bronchogenic cyst). Median operating time was 51 minutes (34-87). No conversion and no transfusion occurred. No complications occurred (no morbidity, no readmission, and no reoperation). According to parents' view the outpatient setting has no disadvantages. Conclusion: This first analysis of a small monocentric dataset demonstrates that pediatric patients can safely undergo thoracoscopy, an outpatient procedure, with a high rate of parental satisfaction.
MeSH term(s)	Ambulatory Surgical Procedures ; Attitude to Health ; Bronchogenic Cyst/surgery ; Bronchopulmonary Sequestration/surgery ; Feasibility Studies ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Parents ; Patient Safety ; Retrospective Studies ; Risk Assessment ; Thoracoscopy/methods ; Treatment Outcome
Language	English
Publishing date	2018-04-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	1381909-4
ISSN	1557-9034 ; 1092-6429
ISSN (online)	1557-9034
ISSN	1092-6429
DOI	10.1089/lap.2017.0721
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Zs.A 3246: Show issues

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Article: Risk factors for febrile urinary tract infection in boys with posterior urethral valves.

Harper, Luke / Botto, Nathalie / Peycelon, Matthieu / Michel, Jean-Luc / Leclair, Marc-David / Garnier, Sarah / Clermidi, Pauline / Arnaud, Alexis P / Dariel, Anne-Laure / Dobremez, Eric / Faure, Alice / Fourcade, Laurent / Boudaoud, Nadia / Chaussy, Yann / Collin, Fideline / Huiart, Laetitia / Ferdynus, Cyril / Bocquet, Valery / Sauvat, Frederique

Frontiers in pediatrics

2022 Volume 10, Page(s) 971662

Abstract: Objective: Boys with posterior urethral valves (PUV) present an increased risk of febrile urinary tract infection (fUTI). Identifying specific risk factors could allow for tailoring UTI prevention. The aim of this study was to use the data from the ... ...

Abstract	Objective: Boys with posterior urethral valves (PUV) present an increased risk of febrile urinary tract infection (fUTI). Identifying specific risk factors could allow for tailoring UTI prevention. The aim of this study was to use the data from the CIRCUP randomized controlled trial data to identify patient characteristics associated with a higher risk of fUTI. Patients and methods: We performed a secondary analysis of the data from the CIRCUP randomized trial which included boys with PUV, randomized to circumcision and antibiotic prophylaxis vs. antibiotic prophylaxis alone and followed for 2 years. There was only 1 episode of fUTI in the circumcision group vs. 17 in the uncircumcised group. We therefore only studied the antibiotic prophylaxis alone group and compared age at prenatal diagnosis, size and weight at birth, presence of dilating VUR at diagnosis, abnormal DMSA scan at 2 months, and nadir creatinine between children who presented a fUTI and those who did not, as well as age at first episode of fUTI. Results: The study group consisted of 42 patients of which 17 presented at least on fUTI. Presence of dilating VUR was significantly associated with risk of fUTI ( Conclusion: In boys with PUV, presence of high-grade VUR is associated with a higher risk of presenting a fUTI. The rate of febrile UTIs seems to decrease after 9 months.
Language	English
Publishing date	2022-09-14
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2022.971662
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Article ; Online: Fast track pediatric thoracic surgery: Toward day-case surgery?

Clermidi, Pauline / Bellon, Myriam / Skhiri, Alia / Jaby, Olivier / Vitoux, Christine / Peuchmaur, Michel / Bonnard, Arnaud

Journal of pediatric surgery

2017 Volume 52, Issue 11, Page(s) 1800–1805

Abstract: Purpose: Thoracoscopic lung resection for congenital pulmonary airway malformation (CPAM) is a safe technique for children. Our purpose was to evaluate the feasibility of a fast-track protocol in such cases.: Methods: From September 2007 to May 2016, ...

Abstract	Purpose: Thoracoscopic lung resection for congenital pulmonary airway malformation (CPAM) is a safe technique for children. Our purpose was to evaluate the feasibility of a fast-track protocol in such cases. Methods: From September 2007 to May 2016, 101 patients underwent a thoracoscopic pulmonary resection of which 83 for CPAM (lobectomy, wedge resection or sequestrectomy). We retrospectively reviewed the characteristics of surgical procedure, postoperative management and complications through three time periods (September 2007-December 2009: n=14, January 2010-March 2013: n=30, April 2013-May 2016: n=39) corresponding to management protocols modifications introducing fast-track pathways. Results: Through the 3 time periods, median postoperative hospital stay decreases (4, 3, 2days successively, P=0.02). In the third time period, 4 patients underwent surgery in day-case surgery. The overall and surgical complication rates, mainly related to air leakage, remain stable through the 3 time periods (14%, P=0.41 and 10%, P=0.52 respectively). Among the 13 patients without postoperative pleural drainage, one required secondary drainage after a partial resection of an emphysema. Conclusion: Fast-track protocol for children undergoing uncomplicated thoracic surgery for CPAM seems feasible without extra morbidity. Selected patient undergoing thoracoscopic resection of the lung may benefit from the absence of pleural drainage and can be operated on in day-case surgery. Level of evidence: Level III.
Language	English
Publishing date	2017-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	80165-3
ISSN	1531-5037 ; 0022-3468
ISSN (online)	1531-5037
ISSN	0022-3468
DOI	10.1016/j.jpedsurg.2017.02.005
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Article ; Online: Learning curve for robotic surgery in children: a systematic review of outcomes and fellowship programs.

Pio, Luca / Musleh, Layla / Paraboschi, Irene / Pistorio, Angela / Mantica, Guglielmo / Clermidi, Pauline / Leonelli, Lorenzo / Mattioli, Girolamo / Sarnacki, Sabine / Blanc, Thomas

Journal of robotic surgery

2019 Volume 14, Issue 4, Page(s) 531–541

Abstract: The learning curve (LC) of a new technique is fundamental for its application and assessment, and for the training. Literature was analysed to define the LCs of different surgical procedures and the impact of fellowship programs. MEDLINE, EMBASE and ... ...

Abstract	The learning curve (LC) of a new technique is fundamental for its application and assessment, and for the training. Literature was analysed to define the LCs of different surgical procedures and the impact of fellowship programs. MEDLINE, EMBASE and paediatric surgical journals' databases from January 1995 to December 2018 were systematically analysed. Two independent residents sought for articles providing description of robotic-assisted procedures' LCs in paediatric age/population. Seventeen articles were selected, describing LC of robotic-assisted pyeloplasty (n = 9), fundoplication (n = 4), cholecystectomy (n = 2), choledochal cyst resection (n = 1) and lingual tonsillectomy (n = 1), with 721 procedures. Ten studies refer to one single surgeon; six to more than one; one does not specify the number of operators. Eleven studies are unicentric retrospective, two multicentric retrospective, three prospective and one is a comparative analysis between a retrospective case series and a prospective cohort. The most recruited parameter is operative time alone in 3 articles, associated with complications in 12, length of hospital stay in 6, blood loss in 3, resolution in 4 and narcotic use in 2. The LC is described as impacting procedural planning (n = 17), training (n = 9) and economic costs (n = 2). To date, operative time is the most reported outcome to measure LC and proficiency. Efforts are needed to consider measures of surgical expertise and patient status. Robotic training should be standardized on targeted programs planned upon well-defined LCs.
MeSH term(s)	Adolescent ; Blood Loss, Surgical/statistics & numerical data ; Child ; Child, Preschool ; Education, Medical ; Educational Measurement ; Fellowships and Scholarships ; Female ; Humans ; Infant ; Learning Curve ; Length of Stay ; Male ; Narcotics/administration & dosage ; Operative Time ; Robotic Surgical Procedures/education ; Treatment Outcome
Chemical Substances	Narcotics
Language	English
Publishing date	2019-09-17
Publishing country	England
Document type	Journal Article ; Systematic Review
ZDB-ID	2268283-1
ISSN	1863-2491 ; 1863-2483
ISSN (online)	1863-2491
ISSN	1863-2483
DOI	10.1007/s11701-019-01026-w
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Article ; Online: ZORRO: Z Omphaloplasty Repair for Omphalocele.

Michel, Jean-Luc / Kassir, Rani / Harper, Luke / Gavage, Laurent / Frade, Fernanda / Clermidi, Pauline / Sauvat, Frederique / Ramful, Duksha

Journal of pediatric surgery

2018 Volume 53, Issue 7, Page(s) 1424–1427

Abstract: Purpose: To suggest a novel technique for omphalocele closure which uses the circular base of the umbilical cord, thus allowing for a more physiological healing process and natural-looking scar.: Methods: Among 16 neonates operated for omphalocele ... ...

Abstract	Purpose: To suggest a novel technique for omphalocele closure which uses the circular base of the umbilical cord, thus allowing for a more physiological healing process and natural-looking scar. Methods: Among 16 neonates operated for omphalocele between 2011 and 2016, 12 were closed with a one-stage procedure using a Z omphaloplasty (ZORRO). Median gestational age was 36.5 weeks; median birth weight was 3210 g. The umbilical arteries were divided and ligated outside the peritoneal cavity above the parietal musculocutaneous plane. The upper part of the defect was closed vertically in the midline, while the lower part was closed in a circular fashion by imbricating 2 lateral cutaneous Z flaps thus forming a new cordonal base. Results: The postoperative course was uneventful in all cases. The reconstructed cordonal bases healed as would a normal umbilical cord, with central umbilication surrounded by healthy skin. With a median follow-up period of 11 months, the umbilicus was in the normal position, with a 0.6 xyphoumbilical/xyphopubic ratio. Conclusions: This technique mimics the natural necrosis mechanism and physiological healing of the umbilicus thus allowing for an esthetic and "natural looking" umbilicus.
MeSH term(s)	Female ; Hernia, Umbilical/surgery ; Humans ; Infant, Newborn ; Male ; Reconstructive Surgical Procedures/methods ; Surgical Flaps ; Treatment Outcome ; Umbilicus/surgery ; Wound Healing
Language	English
Publishing date	2018-04-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	80165-3
ISSN	1531-5037 ; 0022-3468
ISSN (online)	1531-5037
ISSN	0022-3468
DOI	10.1016/j.jpedsurg.2018.04.003
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Article ; Online: Thoracoscopy Versus Thoracotomy in the Repair of Esophageal Atresia with Distal Tracheoesophageal Fistula.

Elhattab, Ahmad / Ali, Liza / Rousseau, Veronique / Clermidi, Pauline / Michelet, Daphné / Farnoux, Caroline / Lapillonne, Alexandre / Aly, Kamal Abdel-Elah / Sarnacki, Sabine / Bonnard, Arnaud / Khen-Dunlop, Naziha

Journal of laparoendoscopic & advanced surgical techniques. Part A

2020 Volume 30, Issue 12, Page(s) 1289–1294

Abstract: Background/Objective: ...

Abstract	Background/Objective:
MeSH term(s)	Anastomosis, Surgical ; Esophageal Atresia/surgery ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Male ; Operative Time ; Postoperative Period ; Retrospective Studies ; Thoracoscopy/methods ; Thoracotomy/methods ; Tracheoesophageal Fistula/surgery ; Treatment Outcome
Language	English
Publishing date	2020-11-05
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Multicenter Study
ZDB-ID	1381909-4
ISSN	1557-9034 ; 1092-6429
ISSN (online)	1557-9034
ISSN	1092-6429
DOI	10.1089/lap.2020.0642
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