Article
Clinical Neurology
Sruthi Ramagiri, Shelei Pan, Dakota DeFreitas, Peter H. Yang, Dhvanii K. Raval, David F. Wozniak, Prabagaran Esakky, Jennifer M. Strahle
Summary: Posthemorrhagic hydrocephalus is a common complication of intraventricular hemorrhage in infants. This study develops an animal model of intraventricular hemorrhage and demonstrates that administration of the iron chelator deferoxamine at the time of hemorrhage can prevent hydrocephalus and reduce iron levels in the choroid plexus. This treatment strategy may be clinically relevant for preventing neurological sequelae after intraventricular hemorrhage.
TRANSLATIONAL STROKE RESEARCH
(2023)
Article
Cell Biology
Pilar Alves-Martinez, Isabel Atienza-Navarro, Maria Vargas-Soria, Maria Jose Carranza-Naval, Carmen Infante-Garcia, Isabel Benavente-Fernandez, Angel Del Marco, Simon Lubian-Lopez, Monica Garcia-Alloza
Summary: Germinal matrix-intraventricular hemorrhage (GM-IVH) is a common intracranial hemorrhage in preterm infants, resulting in neurological disabilities. This study demonstrates the neuroprotective effects of caffeine in GM-IVH, including reduced brain atrophy, improved neuronal wellbeing, preserved neurogenesis, and decreased inflammation. Caffeine treatment also leads to significant improvements in learning and memory abilities.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Taliha Nadeem, Apoorva Bommareddy, Lolade Bolarinwa, Henar Cuervo
Summary: Germinal matrix-intraventricular hemorrhage (GM-IVH) is a devastating neurological complication in premature infants. Previous studies have suggested increased angiogenesis and paucity of pericytes as key factors contributing to GM-IVH pathogenesis. In this study, we comprehensively analyzed the vascular endothelium and pericytes in the mouse GM during development. Our findings show that the mouse GM has greater vascular area and vascular branching compared to the developing cortex. Additionally, we found distinct phenotypical and likely functional characteristics of pericytes in the developing mouse GM compared to other brain regions. These findings provide insights into the mechanisms underlying the susceptibility of the GM vasculature to hemorrhage.
Article
Clinical Neurology
Ahmed El Damaty, Luca Giannoni, Andreas Unterberg, Heidi Baechli
Summary: Thrombocytopenia may play a crucial role in preventing the development of PHH as a sequel of IVH, according to the study results. A randomized controlled trial is recommended to assess the potential efficacy of antiplatelet drugs in preventing PHH in this vulnerable group.
CHILDS NERVOUS SYSTEM
(2021)
Article
Neurosciences
Laura Ollegaard Johnsen, Kathrine Abildskov Friis, Helle Hasager Damkier
Summary: Intraventricular hemorrhage is a life-threatening condition with approximately 20% of patients developing posthemorrhagic hydrocephalus. Inflammatory components have been found to affect membrane transporters involved in cerebrospinal fluid secretion, primarily mediated by the activation of basolateral receptors in the choroid plexus, mainly facilitated by IL-6.
FLUIDS AND BARRIERS OF THE CNS
(2023)
Article
Multidisciplinary Sciences
Lilian M. N. Kebaya, Kevin Stubbs, Marcus Lo, Sarah Al-Saoud, Bradley Karat, Keith St Lawrence, Sandrine de Ribaupierre, Emma G. Duerden
Summary: Germinal Matrix-Intraventricular Hemorrhage (GMH-IVH) is a significant cause of adverse neurodevelopment in preterm infants. Reliable biomarkers are needed to aid in the early detection of posthemorrhagic ventricular dilatation (PHVD) and subsequent neurodevelopment. In a prospective cohort study, 3-dimensional (3D) cUS and functional near-infrared spectroscopy (fNIRS) were used to monitor neonates with GMH-IVH. Larger ventricle volumes (VV) were associated with decreased functional connectivity (sFC) in infants with severe GMH-IVH.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Mohammed Alshareef, Khalil Mallah, Tyler Vasas, Ali Alawieh, Davis Borucki, Christine Couch, Jonathan Cutrone, Chelsea Shope, Ramin Eskandari, Stephen Tomlinson
Summary: This study developed a mouse model of GMH and investigated the role of complement in PHH development. The results showed that CR2Crry treatment could slow down the progression of PHH, reduce lesion size, and improve central neuronal density and behavioral outcomes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Mohammed Alshareef, Devin Hatchell, Tyler Vasas, Khalil Mallah, Aakash Shingala, Jonathan Cutrone, Ali Alawieh, Chunfang Guo, Stephen Tomlinson, Ramin Eskandari
Summary: Germinal matrix hemorrhage (GMH) is a common pathology in infants, with long-term consequences. This study found that the complement pathway plays a critical role in the acute and chronic outcomes of GMH. Inhibiting the complement pathway can reduce hemorrhage, improve survival, and alleviate structural changes associated with brain injury.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Clinical Neurology
George W. Koutsouras, Tatyana Koustov, Stephanie Zyck, Satish Krishnamurthy
Summary: This article systematically reviews the pathophysiology of post-hemorrhagic hydrocephalus of prematurity, finding that its development is multifactorial and prediction of who will develop the condition is still challenging.
CHILDS NERVOUS SYSTEM
(2022)
Article
Pediatrics
Emilie Groulx-Boivin, Mariane Paquette, May Khairy, Marc Beltempo, Roy Dudley, Amaryllis Ferrand, Mireille Guillot, Victoria Bizgu, Jarred Garfinkle
Summary: This study investigated the temporal evolution of post-hemorrhagic ventricular dilatation (PHVD) and compared neurodevelopmental impairments in newborns with different outcomes. The results showed that newborns with persistent PHVD without resolution are at higher risk for neurodevelopmental impairments, which may be due to larger ventricular dilatation.
PEDIATRIC RESEARCH
(2023)
Article
Clinical Neurology
Maria Argyropoulou, Vasileios G. Xydis, Aikaterini Drougia, Anastasia S. Giantsouli, Vasileios Giapros, Loukas G. Astrakas
Summary: Moderate and late preterm infants exhibit changes in brain functional connectivity and microstructural abnormalities. Low-grade intraventricular hemorrhage in these infants is associated with structural and functional abnormalities in specific brain regions related to language and cognition. Topological and functional properties of mature brain connectivity are present in these infants.
Article
Pediatrics
Misun Hwang, Luis O. Tierradentro-Garcia, Syed H. Hussaini, Stephanie C. Cajigas-Loyola, Summer L. Kaplan, Hansel J. Otero, Richard D. Bellah
Summary: Neurosonography has become an essential tool for diagnosis and serial monitoring of preterm brain injury. It offers distinct advantages such as cost-effectiveness, diagnostic utility, and convenience. Advances in neurosonography techniques provide new functional insights into the brain and prompt an updated review of the topic.
PEDIATRIC RADIOLOGY
(2022)
Review
Medicine, General & Internal
Candida Pinto, Preeti Malik, Rutikbhai Desai, Vrushali Shelar, Daria Bekina-Sreenivasan, Travis A. Satnarine, Liseth K. Lavado, Ramit Singla, Devraj Chavda, Surabhi Kaul, Shae Datta, Shamik Shah, Urvish K. Patel
Summary: In this study, 101 cases of IVH were analyzed, with 58.4% of neonates developing PHH, of which 33.6% had resolved PHH and 24.8% had unresolved PHH. The study found that neonates with unresolved PHH have a higher risk of neurodevelopmental delay and mortality.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Editorial Material
Clinical Neurology
Emanuele La Corte, Micol Babini, Mariella Lefosse, Francesca Nicolini, Mino Zucchelli
Summary: Intraventricular hemorrhage and subsequent post hemorrhagic hydrocephalus are serious complications in premature infants, leading to neurodevelopmental delay, epilepsy, and cognitive impairment. Temporary cerebrospinal fluid diversion procedures may be a therapeutic option for such infants.
WORLD NEUROSURGERY
(2021)
Review
Clinical Neurology
Young Soo Park
Summary: While the survival rate of preterm infants has increased, intraventricular hemorrhage and subsequent hydrocephalus remain challenges in neonatal care. Severe neurological complications are inevitable once intraventricular hemorrhage occurs. Fibrinolytic therapy, particularly the use of urokinase, is a promising treatment method for post-intraventricular hemorrhagic hydrocephalus in preterm infants.
JOURNAL OF KOREAN NEUROSURGICAL SOCIETY
(2023)
Article
Genetics & Heredity
Abdellah Tebani, Benedicte Sudrie-Arnaud, Ivana Dabaj, Stephanie Torre, Laur Domitille, Sarah Snanoudj, Benedicte Heron, Thierry Levade, Catherine Caillaud, Sabrina Vergnaud, Pascale Saugier-Veber, Sophie Coutant, Helene Dranguet, Roseline Froissart, Majed Al Khouri, Yves Alembik, Julien Baruteau, Jean-Baptiste Arnoux, Anais Brassier, Anne-Claire Brehin, Tiffany Busa, Aline Cano, Brigitte Chabrol, Christine Coubes, Isabelle Desguerre, Martine Doco-Fenzy, Bernard Drenou, Nursel H. Elcioglu, Solaf Elsayed, Alain Fouilhoux, Celine Poirsier, Alice Goldenberg, Philippe Jouvencel, Alice Kuster, Francois Labarthe, Leila Lazaro, Samia Pichard, Serge Rivera, Sandrine Roche, Stephanie Roggerone, Agathe Roubertie, Sabine Sigaudy, Marta Spodenkiewicz, Marine Tardieu, Catherine Vanhulle, Stephane Marret, Soumeya Bekri
Summary: This study analyzed clinical and genetic data of 52 patients with beta-galactosidase deficiency, showing a continuum of clinical presentations in GM1-gangliosidosis patients, ranging from severe antenatal forms to adult extrapyramidal syndromes. Molecular studies identified novel variants in the GLB1 gene, with some variants specifically linked to early-onset GM1-gangliosidosis, late-onset GM1-gangliosidosis, or MPSIVB phenotypes. This integrative approach suggests a variant-driven patient assignment to specific clinical and severity groups.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Pediatrics
Hanna Danielsson, Abdellah Tebani, Wen Zhong, Linn Fagerberg, Nele Brusselaers, Anna-Lena Hard, Mathias Uhlen, Ann Hellstrom
Summary: This study identified 20 serum proteins associated with gestational age and/or ROP, mainly involving angiogenesis, hematopoiesis, bone regulation, immune function, and lipid metabolism. Infants with severe ROP had persistently lower levels of some identified proteins during the first postnatal months. The findings contribute to understanding the longitudinal serum protein patterns linked to gestational age and their relationship with abnormal retinal neuro-vascular development.
PEDIATRIC RESEARCH
(2022)
Article
Neurosciences
Anders K. Nilsson, Abdellah Tebani, Daniel Malmodin, Anders Pedersen, Gunnel Hellgren, Chatarina Lofqvist, Ingrid Hansen-Pupp, Mathias Uhlen, Ann Hellstrom
Summary: As an increasing number of extremely premature infants survive, understanding the maturation of their metabolome and its relation to the development of morbidities is crucial. This study used 1H-NMR to analyze the serum metabolic profile of 87 preterm infants and found that the metabolome of extremely premature infants changes substantially in the neonatal period, largely driven by the transition from total parenteral nutrition to full enteral feeding.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Medicine, General & Internal
Wladimir Mauhin, Abdellah Tebani, Damien Amelin, Lenaig Abily-Donval, Foudil Lamari, Jonathan London, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Esther Noel, Agathe Masseau, Didier Lacombe, Helene Maillard, Soumeya Bekri, Olivier Lidove, Olivier Benveniste
Summary: The study found that there are differences in S1P levels between the classic and non-classic phenotypes of Fabry disease. Non-classic phenotype patients have higher S1P levels, while classic phenotype patients have higher lysoGb3 concentrations. S1P levels are correlated with interventricular septum thickness, but age is the key factor influencing the risk of HCM.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cell Biology
Linda Yaker, Abdellah Tebani, Celine Lesueur, Chloe Dias, Vincent Jung, Soumeya Bekri, Ida Chiara Guerrera, Said Kamel, Jerome Ausseil, Agnes Boullier
Summary: This study found that extracellular vesicles (EVs) secreted by macrophages during vascular calcification (VC) can induce inflammatory and oxidative stress responses, exacerbating the calcification of vascular smooth muscle cells (VSMCs).
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Medicine, General & Internal
Ivana Dabaj, Adnan Hassani, Lydie Burglen, Leila Qebibo, Anne-Marie Guerrot, Stephane Marret, Abdellah Tebani, Soumeya Bekri
Summary: Pontocerebellar hypoplasia (PCH) is a neurodegenerative disorder that leads to severe neurodevelopmental disabilities. This study reports a case of PCH1D in an infant with two variants in the EXOSC9 gene and highlights the crucial role of the exosome in cellular homeostasis.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Stephen J. J. Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, Francois Lecoquierre, Soumeya Bekri, Michael S. S. Kilberg
Summary: Asparagine Synthetase Deficiency (ASNSD) is caused by mutations in the ASNS gene and leads to microcephaly, seizures, brain atrophy, and developmental delays. A 9-year-old child with ASNSD was found to have compound heterozygous mutations and reduced proliferation in cells lacking asparagine. Enzymatic activity and protein expression studies in ASNS-null cells further elucidate the biological impact of ASNS mutations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pediatrics
Catherine Gire, Ninon Fournier, Johanna Pirrello, Stephane Marret, Hugues Patural, Cyril Flamant, Veronique Pierrat, Monique Kaminski, Pierre-Yves Ancel, Barthelemy Tosello, Julie Berbis
Summary: This study examined the relationship between hemoglobin levels in very preterm infants within the first 24 hours of birth and the neurodevelopment outcomes at 24 months of corrected age. The results showed that early low hemoglobin levels were associated with major neonatal morbidities but not with neurodevelopment outcomes at two years of age, except in male infants born at gestational age of more than 26 weeks.
Article
Medical Laboratory Technology
Franklin Ducatez, Carine Pilon, Justine Ferey, Stephane Marret, Soumeya Bekri, Abdellah Tebani
Summary: This study evaluated the impact of different hematocrit levels and punching positions on the assessment of enzyme activity in dried blood spot (DBS) samples. The results showed that hematocrit, punching position, and the use of different sampling methods did not affect the assessment of enzyme activity, indicating the reliability of DBS in this test.
CLINICA CHIMICA ACTA
(2023)
Article
Behavioral Sciences
Joaquin Fuentes, Mara Parellada, Christina Georgoula, Guiomar Oliveira, Stephane Marret, Veronique Crutel, Cristina Albarran, Estelle Lambert, Pierre-Francois Penelaud, Denis Ravel, Yehezkel Ben Ari
Summary: The efficacy and safety of bumetanide oral solution for the treatment of autism spectrum disorder (ASD) in children and adolescents was evaluated in two international, multi-center, randomized, double-blind, placebo-controlled phase III trials. The results showed that bumetanide did not demonstrate a significant benefit compared to placebo in the overall studied populations. The sponsor has discontinued the development of bumetanide for the treatment of pediatric ASD.
Article
Medical Laboratory Technology
Abdellah Tebani, Frederic Barbey, Olivier Dormond, Franklin Ducatez, Stephane Marret, Albina Nowak, Soumeya Bekri
Summary: Fabry disease is an X-linked lysosomal rare disease caused by a deficiency of α-galactosidase A activity. The accumulation of glycosphingolipids affects the kidney, heart, and central nervous system, reducing life expectancy. A deep plasma proteomic profiling identified proteomic profiles that could distinguish FD patients from controls, highlighting the involvement of pro-inflammatory cytokines and extracellular matrix remodeling in FD pathogenesis. These findings will contribute to better understanding of the molecular mechanisms in FD and future diagnostic and therapeutic advancements.
TRANSLATIONAL RESEARCH
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Sarah Snanoudj, Celine Derambure, Celine Lesueur, Lenaig Donval, Stephane Marret, Soumeya Bekri, Abdellah Tebani
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
