Review
Biochemistry & Molecular Biology
Flaminia Pugnaloni, Irma Capolupo, Neil Patel, Paola Giliberti, Andrea Dotta, Pietro Bagolan, Florian Kipfmueller
Summary: This review highlights the importance of miRNAs in CDH-related PH and summarizes the findings from animal and human CDH studies. The focus on epigenetic modulators of CDH-PH offers potential for developing innovative diagnostic tools and treatment approaches, and enhances researchers' understanding of CDH pathophysiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pharmacology & Pharmacy
Alecsander F. Bressan, Victoria Oliveira Maia, Beatriz de Souza Rodrigues, Giuliana Bertozi, Sabrina S. Batah, Alexandre T. Fabro, Gloria Pelizzo, Ugo Maria Pierucci, Rita C. Tostes, Lourenco Sbragia, Fernando S. Carneiro
Summary: Congenital diaphragmatic hernia (CDH) can cause abnormalities in the pulmonary arteries of both the contralateral and ipsilateral sides of the diaphragm. Nitric oxide (NO) is commonly used to treat CDH but may not always be effective. This study investigated the different responses of the left and right pulmonary arteries to a NO donor in a rabbit model of left CDH. The results showed that newborns with CDH had increased vasorelaxant responses to the NO donor compared to the control group, possibly due to increased cGMP mobilization.
PHARMACOLOGICAL RESEARCH
(2023)
Article
Medicine, General & Internal
Felix Rafael De Bie, Christopher Gates Halline, Travis Kotzur, Kevin Hayes, Christopher Copeland Rouse, Jonathan Chang, Abby Christine Larson, Sameer Ahmad Khan, Ashley Spina, Samantha Tilden, Francesca Maria Russo, Holly Lee Hedrick, Jan Deprest, Emily Anne Partridge
Summary: In a nitrofen rat model, prenatal administration of treprostinil significantly reduces pulmonary arteriole muscularization. These results suggest that prophylactic treatment may be a potential approach for managing CDH-related PH.
Article
Medicine, General & Internal
Daphne S. Mous, Marjon J. Buscop-van Kempen, Rene M. H. Wijnen, Dick Tibboel, Rory E. Morty, Robbert J. Rottier
Summary: Studies on the activation of TGF beta and BMP signaling pathways in CDH are limited and inconsistent. However, research on a nitrofen-CDH rat model suggests increased activation of TGF beta pathway and decreased activation of BMP pathway in pulmonary vasculature, which may contribute to the development of pulmonary hypertension in CDH.
FRONTIERS IN MEDICINE
(2021)
Article
Biotechnology & Applied Microbiology
Shiho Yoshida, Alexander M. Kreger, George K. Gittes
Summary: We propose that intra-amniotic sildenafil administration is an effective prenatal therapy for CDH-induced pulmonary hypertension. Intra-amniotic sildenafil treatment attenuated peripheral vascular muscularization, enhanced pulmonary blood flow, and improved lung architecture in CDH fetuses. Early intervention with intra-amniotic sildenafil treatment may be preferable to accelerate lung development and improve prognosis in CDH cases.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2023)
Article
Pediatrics
Arthur Gavotto, Pascal Amedro, Gilles Cambonie
Summary: We report a case of a neonate with a severe pulmonary hypertension associated with an abnormal origin of the right pulmonary artery from the right brachiocephalic artery, in a context of left congenital diaphragmatic hernia (CDH). To the best of our knowledge, this combination of malformations has not been reported before.
Article
Medicine, General & Internal
Florian Kipfmueller, Suemeyra Akkas, Flaminia Pugnaloni, Bartolomeo Bo, Lotte Lemloh, Lukas Schroeder, Ulrich Gembruch, Annegret Geipel, Christoph Berg, Andreas Heydweiller, Andreas Mueller
Summary: The study suggests that PAAT:ET has potential as a prognostic indicator in neonates with congenital diaphragmatic hernia. This parameter can be used for early assessment of ECMO requirement and mortality risk.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Pediatrics
Megan A. Coughlin, Vikas S. Gupta, Ashley H. Ebanks, Matthew T. Harting, Kevin P. Lally
Summary: The study on CDH + BPS patients found that pulmonary sequestration is associated with larger defect sizes, a greater need for ECLS, and higher mortality rates.
JOURNAL OF PEDIATRIC SURGERY
(2021)
Article
Pediatrics
Hina Emanuel, Hannah Breitschopf, Matthew T. Harting, Diana J. Martinez Castillo, Aravind Yadav, Katrina McBeth, S. Syed Hashmi, Ashley H. Ebanks, Tomika S. Harris, Kevin P. Lally, Cindy K. Jon, James M. Stark, Ricardo A. Mosquera
Summary: This study aimed to evaluate the long-term pulmonary outcomes associated with the defect size in patients with congenital diaphragmatic hernia (CDH). A retrospective analysis of 133 CDH patients treated in a neonatal intensive care unit (NICU) and followed up at a comprehensive multidisciplinary CDH clinic revealed that patients with high-risk CDH had worse inpatient and post-discharge pulmonary outcomes.
TRANSLATIONAL PEDIATRICS
(2023)
Letter
Pediatrics
Huiyong Hu, Xiaoping Jing, Xiuhua Duan, Leiping Zhou, Yunfeng Xu
Summary: A fetus was diagnosed with a right diaphragmatic hernia during a late second trimester prenatal ultrasound. A green channel with multi department dynamic monitoring was implemented, and at 40 + 4 weeks, the infant underwent successful hernia repair under general anesthesia. Post-operation, the infant's vital signs were stable and their condition remained good during follow-up.
PEDIATRIC PULMONOLOGY
(2023)
Article
Medicine, General & Internal
Ricards Kaulins, Laura Ramona Rozite, Mara Pilmane, Aigars Petersons
Summary: Congenital diaphragm hernia (CDH) is a congenital disease that occurs during prenatal development with significant morbidity and mortality rates. This study evaluated the expression of various growth factors and markers in CDH pathological tissues, revealing multiple morphopathogenetic pathways at play in CDH pathogenesis.
Article
Pediatrics
R. Gregorio-Hernandez, C. Ramos-Navarro, S. Vigil-Vazquez, E. Rodriguez-Corrales, A. Perez-Perez, M. Arriaga-Redondo, M. Sanchez-Luna
Summary: Lung ultrasound is a valuable tool for assessing pulmonary aeration in neonates, including those with congenital diaphragmatic hernia (CDH). In this study, lung ultrasound examinations were performed on 8 CDH patients before and after surgical correction, and compared between two groups based on mechanical ventilation duration. Lung ultrasound showed potential for diagnosing postoperative complications without radiation exposure and offered quick and serial assessments. These findings highlight the importance of lung ultrasound as an effective alternative to conventional imaging methods in managing CDH.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Review
Pediatrics
Arimatias Raitio, Adeline Salim, Paul D. Losty
Summary: This study suggests that newborns with a hernia sac in congenital diaphragmatic hernia (CDH) have significant survival benefits compared to those without a sac. This may be due to more favorable physiology, less severe pulmonary hypertension, and smaller anatomical defects requiring primary closure only in infants with a hernia sac.
EUROPEAN JOURNAL OF PEDIATRICS
(2021)
Article
Pediatrics
Aabha A. Anekar, Sumana Nanjundachar, Dhaneshgouda Desai, Jafferali Lakhani, Prakash M. Kabbur
Summary: This case report highlights a late-diagnosed congenital diaphragmatic hernia in an 8-year-old boy presenting with respiratory distress, chest pain, and non-bilious vomiting. Late-presenting CDH should be considered in pediatric patients with respiratory distress, chest pain, non-bilious vomiting, and radiological findings suggestive of tension pneumothorax.
FRONTIERS IN PEDIATRICS
(2021)
Article
Pediatrics
Judith Leyens, Lukas Schroeder, Annegret Geipel, Christoph Berg, Bartolomeo Bo, Lotte Lemloh, Neil Patel, Andreas Mueller, Florian Kipfmueller
Summary: This study aims to describe the early course of pulmonary hypertension (PH) in infants with congenital diaphragmatic hernia (CDH) and its relation to prognostic markers and outcome measures. The severity of PH varied significantly in the first 48 hours of life. Patients with mild/no PH had a better prognosis, while patients with severe PH had a higher risk of mortality and ECMO. Assessing PH within 2-6 hours is crucial in the care for CDH neonates.
FRONTIERS IN PEDIATRICS
(2023)
Article
Pediatrics
Kathryn A. Martinello, Christopher Meehan, Adnan Avdic-Belltheus, Ingran Lingam, Tatenda Mutshiya, Qin Yang, Mustafa Ali Akin, David Price, Magdalena Sokolska, Alan Bainbridge, Mariya Hristova, Ilias Tachtsidis, Cally J. Tann, Donald Peebles, Henrik Hagberg, Tim G. A. M. Wolfs, Nigel Klein, Boris W. Kramer, Bobbi Fleiss, Pierre Gressens, Xavier Golay, Nicola J. Robertson
Summary: Therapeutic hypothermia did not show protection in a piglet model of inflammation-sensitized hypoxia-ischemia, as evidenced by aEEG, MRS, and immunohistochemistry. The immunosuppressive effects of hypothermia and the counteracting neuroinflammation by LPS may have led to the lack of efficacy of hypothermia in this context. Other immunomodulatory strategies may be more effective in treating inflammation-sensitized hypoxia-ischemia injuries.
PEDIATRIC RESEARCH
(2022)
Article
Clinical Neurology
Cindy Bokobza, Pooja Joshi, Anne-Laure Schang, Zsolt Csaba, Valerie Faivre, Amelie Montane, Anne Galland, Anouk Benmamar-Badel, Emmanuelle Bosher, Sophie Lebon, Leslie Schwendimann, Shyamala Mani, Pascal Dournaud, Valerie Besson, Bobbi Fleiss, Pierre Gressens, Juliette Van Steenwinckel
Summary: The study highlights the importance of miRNA-146b-5p in regulating microglial activation and white matter injury, which could be targeted to prevent and treat perinatal brain injuries effectively.
ANNALS OF NEUROLOGY
(2022)
Editorial Material
Biochemistry & Molecular Biology
Rochellys Diaz Heijtz, Pierre Gressens, Jonathan R. Swann
Summary: A novel therapeutic approach that targets neuroactive microbial metabolites in the gut shows promising results in improving behavior and safety in adolescents with autism spectrum disorder.
Article
Neurosciences
Luisa Klein, Juliette Van Steenwinckel, Bobbi Fleiss, Till Scheuer, Christoph Buehrer, Valerie Faivre, Cindy Bokobza, Sophie Lemoine, Corinne Blugeon, Leslie Schwendimann, Zsolt Csaba, Dulcie A. Vousden, Jason P. Lerch, Anthony C. Vernon, Pierre Gressens, Thomas Schmitz
Summary: Preterm infants often exhibit cerebellar pathologies, which are associated with motor impairments, lower IQ, and poor language skills. This study used a mouse model to investigate the causes of cerebellar damage in inflammation-induced encephalopathy of prematurity. The results suggest that the systemic administration of IL-1 beta leads to specific reductions in cerebellar gray and white matter volumes, likely due to oligodendrocyte pathology downstream of microglial activation. These findings highlight the importance of identifying protective strategies targeting cerebellar microglia activation and sustained type I interferon signaling.
Article
Biochemistry & Molecular Biology
Cecile Morin, David Guenoun, Irvin Sautet, Valerie Faivre, Zsolt Csaba, Leslie Schwendimann, Pierrette Young-Ten, Juliette Van Steenwinckel, Pierre Gressens, Cindy Bokobza
Summary: Preterm birth is a global issue with 15 million births every year and is often associated with infections and inflammation. This study presents a new model of induced preterm birth and periventricular white matter injuries (PWMIs) through the use of RU-486 injection and IL-1beta injection, and explores their effects on microglial reactivity and PWMIs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Vanessa Naffaa, Isabelle Hochar, Cheryane Lama, Romain Magny, Anne Regazzetti, Pierre Gressens, Olivier Laprevote, Nicolas Auzeil, Anne-Laure Schang
Summary: This study evaluated the effect of bisphenol A (BPA) on oligodendrocyte differentiation by analyzing the cell lipidome. The results suggest that BPA disrupts lipid remodeling during early oligodendrocyte differentiation.
Review
Psychiatry
Pierre Ellul, Eric Acquaviva, Hugo Peyre, Michelle Rosenzwajg, Pierre Gressens, David Klatzmann, Richard Delorme
Summary: This study investigates the association between autoimmune or inflammatory disorders (AID) in parents and the risk of neurodevelopmental disorders (NDD) in their children. The results show that mothers and fathers with AID are associated with an increased risk of Autism Spectrum Disorder (ASD) and Attention-Deficit Hyperactivity Disorder (ADHD) in their offspring, but the strength of this association varies in AID-specific analyses.
TRANSLATIONAL PSYCHIATRY
(2022)
Article
Endocrinology & Metabolism
Ghislaine Garrel, Claude Rouch, David L'Hote, Salma Tazi, Nadim Kassis, Frank Giton, Julien Dairou, Pascal Dournaud, Pierre Gressens, Christophe Magnan, Celine Cruciani-Guglielmacci, Joelle Cohen-Tannoudji
Summary: Our study found that high-fat diet-induced defects in gonadotrope activity in male rats occurred despite a lack of pituitary inflammation.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Pediatrics
Daniel Alonso-Alconada, Pierre Gressens, Xavier Golay, Nicola J. Robertson
Summary: Hypoxia-ischemia can lead to a decrease in cell proliferation and neurogenesis in the neurogenic niche of the neonatal piglet, which may hinder the replacement of lost neurons and overall repair.
FRONTIERS IN PEDIATRICS
(2022)
Review
Physiology
Geraldine Favrais, Cindy Bokobza, Elie Saliba, Sylvie Chalon, Pierre Gressens
Summary: Premature birth can lead to specific white matter damage (WMD), which is associated with neurological outcomes. These white matter abnormalities are part of a larger brain damage known as encephalopathy of prematurity (EoP). The most common form of WMD in premature infants is a global reduction in white matter volume. This review focuses on the alterations in the oligodendrocyte (OL) lineage associated with WMD in infants with EoP and highlights the role of systemic inflammation in inducing these alterations.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Neurosciences
Maria Sbeih, Benedicte Oules, Mansour Alkobtawi, Leslie Schwendimann, Qui Trung Ngo, Romain Fontaine, Natacha Teissier, Pierre Gressens, Selim Aractingi
Summary: Low doses of CCL2 can limit brain excitotoxic damage in post-partum mice by enhancing the recruitment of fetal microchimeric cells to the damaged hemisphere.
NEUROBIOLOGY OF DISEASE
(2022)
Article
Clinical Neurology
Cindy Bokobza, Alice Jacquens, David Guenoun, Blandine Bianco, Anne Galland, Maxime Pispisa, Alexandra Cruz, Manuela Zinni, Valerie Faivre, Anne Roumier, Sophie Lebon, Tania Vitalis, Zsolt Csaba, Tifenn Le Charpentier, Leslie Schwendimann, Pierrette Young-Ten, Vincent Degos, Patricia Monteiro, Pascal Dournaud, Pierre Gressens, Juliette Van Steenwinckel
Summary: Approximately 15 million babies are born prematurely every year, and many of them will face motor and cognitive deficits in their lifetime. Systemic inflammation-induced neuroinflammation is a prominent process of perinatal brain injuries, especially white matter injuries (WMI). Serotonin and its receptors, particularly HTR7, play a significant role in inflammation regulation. The study suggests that targeting HTR7 may serve as an innovative therapeutic strategy to protect the developing brain from preterm brain injuries.
JOURNAL OF NEURAL TRANSMISSION
(2023)
Article
Cell Biology
Anne-Laure Schang, Juliette Van Steenwinckel, Zoi S. Ioannidou, Julia Lipecki, Charlotte Rich-Griffin, Kate Woolley-Allen, Nigel Dyer, Tifenn Le Charpentier, Patrick Schafer, Bobbi Fleiss, Sascha Ott, Delara Saberan-Djoneidi, Valerie Mezger, Pierre Gressens
Summary: This study provides a genome-wide understanding of the effects of neuroinflammation on oligodendrocyte precursor cells (OPCs). It reveals that neuroinflammation takes advantage of a primed epigenomic landscape in OPCs and induces abnormal expression of immune/inflammatory genes. Additionally, neuroinflammation counteracts the normal downregulation of the cell cycle pathway in maturing OPCs.
CELL DEATH & DISEASE
(2022)
Article
Multidisciplinary Sciences
Aurelie de Thonel, Johanna K. Ahlskog, Kevin Daupin, Veronique Dubreuil, Jeremy Berthelet, Carole Chaput, Geoffrey Pires, Camille Leonetti, Ryma Abane, Lluis Cordon Barris, Isabelle Leray, Anna L. Aalto, Sarah Naceri, Marine Cordonnier, Carene Benasolo, Matthieu Sanial, Agathe Duchateau, Anniina Vihervaara, Mikael C. Puustinen, Federico Miozzo, Patricia Fergelot, Elise Lebigot, Alain Verloes, Pierre Gressens, Didier Lacombe, Jessica Gobbo, Carmen Garrido, Sandy D. Westerheide, Laurent David, Michel Petitjean, Olivier Taboureau, Fernando Rodrigues-Lima, Sandrine Passemard, Delara Saberan-Djoneidi, Laurent Nguyen, Madeline Lancaster, Lea Sistonen, Valerie Mezger
Summary: This study reveals the contribution of a stress-responsive pathway to Rubinstein-Taybi syndrome (RSTS), indicating that impaired HSF2 acetylation due to RSTS-associated CBP/EP300 mutations alters the expression of neurodevelopmental players, leading to cell-cell adhesion defects.
NATURE COMMUNICATIONS
(2022)
Review
Neurosciences
Juliette Van Steenwinckel, Cindy Bokobza, Mireille Laforge, Isabelle K. Shearer, Veronique E. Miron, Rejane Rua, Samantha M. Matta, Elisa L. Hill-Yardin, Bobbi Fleiss, Pierre Gressens
Summary: Approximately one in 10 babies are born preterm, and up to 50% of preterm infants develop encephalopathy of prematurity (EoP) that increases the risk of lifelong cognitive defects. Glial cells play a key role in the development of a healthy brain, but glial dysfunction is a hallmark of EoP. However, our understanding of glial biology is not sufficient for the development of effective neuroregenerative therapies.