Article
Immunology
Eyal Kristal, Amit Nahum, Galina Ling, Arnon Broides, George Shubinsky, Marina Eskin-Schwartz, Noam Hadar, Omri Progador, Ohad Birk
Summary: Tricho-hepato-enteric syndrome is a rare syndromic enteropathy characterized by dysmorphism, diarrhea, failure to thrive, hair abnormalities, liver disease, and immunodeficiency. A patient with this syndrome was found to have extremely elevated IgM levels and low IgG levels, a manifestation that has not been previously described in THES patients.
IMMUNOLOGIC RESEARCH
(2022)
Article
Multidisciplinary Sciences
Regina B. Troyanovsky, Alina P. Sergeeva, Indrajyoti Indra, Chi-Shuo Chen, Rei Kato, Lawrence Shapiro, Barry Honig, Sergey M. Troyanovsky
Summary: The study explores the structure and function of the multiprotein complex formed by the cytoplasmic tails of classical cadherins in adherens junctions. It reveals that cytoplasmic proteins interact with this complex and organize into clusters, potentially synchronizing signaling networks among neighboring cells within tissues.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemistry & Molecular Biology
Michael Meir, Felix Kannapin, Markus Diefenbacher, Yalda Ghoreishi, Catherine Kollmann, Sven Flemming, Christoph-Thomas Germer, Jens Waschke, Patrick Leven, Reiner Schneider, Sven Wehner, Natalie Burkard, Nicolas Schlegel
Summary: These findings indicate that enteric glial cells (EGCs) maintain intestinal epithelial barrier function (IEB) by synthesizing glial cell line-derived neurotrophic factor (GDNF). The protective effects of GDNF on IEB function are mediated through the RET receptor, as shown in experiments using EGC supernatants and GDNF-deficient EGCs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Endocrinology & Metabolism
Martin Zenker, Klaus Mohnike, Katja Palm
Summary: Congenital hyperinsulinism (CHI), also known as hyperinsulinemic hypoglycemia (HH), is a diverse condition that is the most common cause of severe and persistent hypoglycemia in infants and children. It is primarily caused by genetic defects affecting pancreatic beta-cells and their glucose-sensing system. However, CHI/HH can also occur in various syndromic disorders.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Gastroenterology & Hepatology
Badr M. Alsaleem, Mohammed Hasosah, Amna Basheer M. Ahmed, Maher M. Al Hatlani, Aziz Helal Alanazi, Abdulrahman Al-Hussaini, Ali T. Asery, Khalid A. Alghamdi, Muhanad M. AlRuwaithi, Musa Ali M. Khormi, Ahmed Al Sarkhy, Ali S. Alshamrani
Summary: Trichohepatoenteric syndrome (THES) is a rare disorder characterized by intractable congenital diarrhea, hair abnormalities, facial dysmorphism, and hepatic abnormalities. The prognosis is generally poor, with some patients requiring parenteral nutrition.
SAUDI JOURNAL OF GASTROENTEROLOGY
(2022)
Review
Oncology
Almudena Fernandez, Masahiro Hayashi, Gema Garrido, Andrea Montero, Ana Guardia, Tamio Suzuki, Lluis Montoliu
Summary: Oculocutaneous albinism (OCA) is a common presentation of albinism, affecting pigmentation and vision, with syndromic and non-syndromic types. Syndromic OCA may be more severe and associated with additional systemic consequences.
PIGMENT CELL & MELANOMA RESEARCH
(2021)
Article
Chemistry, Medicinal
Matthias Schneider, Anna-Laura Potthoff, Bernd O. Evert, Marius Dicks, Denise Ehrentraut, Andreas Dolf, Elena N. C. Schmidt, Niklas Schaefer, Valeri Borger, Torsten Pietsch, Mike-Andrew Westhoff, Erdem Guresir, Andreas Waha, Hartmut Vatter, Dieter H. Heiland, Patrick Schuss, Ulrich Herrlinger
Summary: Inhibition of intercellular cytosolic traffic via gap junctions enhances the antitumoral effects of lomustine, regardless of MGMT promoter methylation status, providing a clinically-feasible way to profoundly augment chemotherapeutic effects for all glioblastoma patients, with growing interest in lomustine as a first and second line therapy for glioblastoma.
Article
Genetics & Heredity
Ying Kong, Chaoqun Ye, Leyang Shi, Qingmei Dai, Ying Wang, Jun Hu, Xueyan Wu, Meiyu Shi, Xiaofeng Hu, Huizhi Huang
Summary: This study analyzed the genetic basis of a newborn with congenital diarrhea and cholestasis from a Chinese Han family and found compound heterozygous variants of the UNC45A gene as potential pathogenic factors. The findings highlight the importance of considering UNC45A deficiency in the context of intractable diarrhea and cholestasis in newborns.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Medicine, General & Internal
Ryan Rego, Samuel Watson, Mohammad Atique Ul Alam, Syed Asif Abdullah, Mohammad Yunus, Imam Taskin Alam, A. S. M. Homuan Kabir Chowdhury, S. M. Arefeen Haider, Asg Faruque, Azharul Islam Khan, Timothy Hofer, Paramjit Gill, Mohammad Sirajul Islam, Richard Lilford
Summary: This study evaluated different diarrhoea survey instruments as proxy markers of enteric pathogen presence in stool. The findings suggest that diarrhoea is a poor proxy for enteric pathogen presence, and direct measurement should be used when studying enteric infection.
Article
Dentistry, Oral Surgery & Medicine
Haochen Liu, Yue Wang, Hangbo Liu, Miao Yu, Jinglei Zheng, Hailan Feng, Yang Liu, Dong Han
Summary: This study identified a DLX3 gene variant in an integrated family of Han nationality for the first time, expanding the variant spectrum of DLX3 and phenotype spectrum of TDO syndrome.
ARCHIVES OF ORAL BIOLOGY
(2022)
Article
Obstetrics & Gynecology
Tamara Casteleyn, Denise Horn, Wolfgang Henrich, Stefan Verlohren
Summary: This study investigated sonographic signs of different syndromic craniosynostoses and associated malformations, identifying characteristic changes in head shape and potential genetic mutations. For suspected cases, genetic, neonatal, and surgical counseling is recommended, along with fetal MRI screening for accurate diagnosis and planning delivery in a perinatal center.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2022)
Article
Endocrinology & Metabolism
Mingqiang Zhu, Yangxi Li, Guanping Dong, Xuefeng Chen, Ke Huang, Wei Wu, Yangli Dai, Li Zhang, Hu Lin, Sihua Wang, Constantin Polychronakos, Junfen Fu
Summary: Non-syndromic diabetes due to recessive WFS1 mutation may be common among Chinese pediatric patients with diabetes, and it is important to differentiate it from other diabetes subtypes using molecular diagnosis.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Review
Genetics & Heredity
Daniel A. Balikov, Adam Jacobson, Lev Prasov
Summary: Monogenic syndromic disorders often present with ocular manifestations such as glaucoma, which may go undetected in children and serve as the initial sign of a systemic syndrome. Understanding syndromes associated with glaucoma is crucial for medical geneticists and ophthalmologists.
Review
Medicine, Research & Experimental
Zizi Zhou, Wenxiang Chai, Yi Liu, Meng Zhou, Xiaoming Zhang
Summary: Connexins (Cxs) have crucial roles in cellular communication, affecting cell homeostasis, proliferation, and differentiation. The activity and expression of Cxs are linked to various clinical conditions, including carcinomas, cardiac disorders, and wound healing. Recent discoveries on the association between Cxs and angiogenesis have sparked interest in Cx-mediated angiogenesis due to its vital functions in tissue formation, wound repair, tumor growth, and metastasis. Understanding this association may lead to the development of targeted therapies for angiogenic diseases.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
(2022)
Article
Orthopedics
Khodamorad Jamshidi, Paniz Motaghi, Abolfazl Bagherifard, Misagh Eigi, Hamadalla Hadi Al-Baseesee, Alireza Mirzaei
Summary: This study compared characteristic features and local recurrence between symptomatic syndromic and non-syndromic MNOFs. Results showed a higher rate of recurrence and bilateral involvement in syndromic MNOFs compared to non-syndromic MNOFs.
JOURNAL OF ORTHOPAEDIC SCIENCE
(2021)
Article
Pharmacology & Pharmacy
Mourad Hamimed, Florence Gattacceca, Nicolas Andre, Emmanuelle Tresch-Bruneel, Alicia Probst, Pascal Chastagner, Anne Pagnier, Emilie De Carli, Natacha Entz-Werle, Jacques Grill, Isabelle Aerts, Didier Frappaz, Anne-Isabelle Bertozzi-Salamon, Caroline Solas, Pierre Leblond
Summary: The PK profile of orally administered vinorelbine was assessed in children with recurrent/progressive low-grade glioma. Higher doses may be necessary for children with LGG, and body surface area has a significant impact on vinorelbine systemic exposure. These findings will contribute to further research on vinorelbine concentration-response relationships in pediatric patients.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2022)
Letter
Oncology
Caroline Donze, Laetitia Ninove, Xavier de Lamballerie, Paul Saultier, Nicolas Andre
PEDIATRIC BLOOD & CANCER
(2022)
Review
Oncology
Simon Bailey, Nicolas Andre, Lorenza Gandola, Maura Massimino, Stefan Rutkowski, Steven C. Clifford
Summary: Patients with medulloblastoma are treated based on risk stratification, with the first international biomarker-driven, randomised clinical trial for high-risk medulloblastoma currently being conducted in Europe. The trial aims to recruit over 800 patients and assess the relative efficacies of different established regimens.
Article
Oncology
Charles de Marcellus, Arnault Tauziede-Espariat, Aurelie Cuinet, Claudia Pasqualini, Matthieu P. Robert, Kevin Beccaria, Stephanie Puget, Nathalie Boddaert, Dominique Figarella-Branger, Emilie De Carli, Franck Bourdeaut, Pierre Leblond, Fanny Fouyssac, Nicolas Andre, Anne Bertozzi, Thibaut Butel, Christelle Dufour, Dominique Valteau-Couanet, Pascale Varlet, Jacques Grill
Summary: This retrospective analysis evaluated the efficacy and toxicity of irinotecan-bevacizumab combination therapy in children with low-grade glioma (LGG). The results showed that the treatment was effective in stabilizing the disease in 96% of patients, but the response was not sustainable, especially in younger children. The most frequent toxicities were related to bevacizumab and irinotecan.
JOURNAL OF NEURO-ONCOLOGY
(2022)
Article
Pediatrics
C. de Leusse, C. Roman, B. Roquelaure, A. Fabre
Summary: Among the known congenital disaccharidase deficiencies, the prevalence is relatively high for congenital lactase deficiency and congenital sucrase-isomaltase deficiency, while the prevalence is low for congenital trehalase deficiency.
ARCHIVES DE PEDIATRIE
(2022)
Article
Pediatrics
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Anais Brassier, Manuel Schiff, Samia Pichard, Alexandre Fabre, Celia Hoebeke, Nathalie Guffon, Alain Fouilhoux, Pierre Broue, Guy Touati, Dries Dobbelaere, Karine Mention, Francois Labarthe, Marine Tardieu, Loic De Parscau, Francois Feillet, Chrystele Bonnemains, Alice Kuster, Philippe Labrune, Magalie Barth, Lena Damaj, Delphine Lamireau, Julie Berbis, Pascal Auquier, Brigitte Chabrol
Summary: The objective of this study was to compare the quality of life (QoL) of parents of children with inborn errors of metabolism (IEMs) requiring a restricted diet with the French population norms and investigate the determinants of parental QoL. The results showed that compared to the general population, parents of children with IEMs requiring a restricted diet reported lower QoL in physical and social relationship domains but higher QoL in the psychological domain. Factors such as parent-related characteristics and family-related factors were found to be associated with poorer parental QoL in the multivariate analysis.
JOURNAL OF PEDIATRICS
(2023)
Article
Medicine, General & Internal
Alexandre Fabre, Julien Mancini
Summary: This study compared the constraint metrics and associations with Mendelian diseases between the LUCA gene group and a random gene group. The results showed differences in constraint and Mendelian disease associations between the two groups.
INTRACTABLE & RARE DISEASES RESEARCH
(2022)
Review
Medicine, General & Internal
Ninon Fournier, Alexandre Fabre
Summary: This study systematically reviewed the genes associated with smooth muscle disorders affecting the intestine and the bladder. The most commonly involved genes were ACTG2, MYH11, and FLNA, and the clinical phenotypes of the patients ranged from isolated chronic intestinal pseudo-obstruction to isolated megacystis or combined CIPO and megacystis.
INTRACTABLE & RARE DISEASES RESEARCH
(2022)
Letter
Oncology
Nicolas Andre
PEDIATRIC BLOOD & CANCER
(2023)
Article
Biochemistry & Molecular Biology
Alexandre Fabre, Anne Fabre, Celine Bon, Paul Guerry, Laure Segurel
Summary: Lactase persistence is a strongly selected phenotype in humans, encoded by multiple genetic variants. The underlying mechanism is unclear as adults, including lactase non-persistence individuals, can tolerate dairy products. Cultural adaptations, such as fermentation and transformation, in ancient societies may have provided energy to both lactase persistence and non-persistence individuals without any cost.
Article
Oncology
Eric Moreddu, Nicolas Andre, Romain Appay
Summary: We report two cases of pediatric mammary-analog secretory carcinoma (MASC) in which the diagnosis was challenging, but achieved by identifying the ETV6::NTRK3 fusion transcript. Both patients, a male operated on at age 8 and a female operated on at 12, are in remission 2 years after surgery. Considering the successful results of TRK inhibitor treatments in adult MASC and pediatric tumors expressing an ETV6::NTRK3 fusion, they should probably be recommended as the first-line treatment in cases with potential serious sequelae or metastatic disease that require surgery.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Medicine, General & Internal
Camille Winnicki, Pierre Leblond, Franck Bourdeaut, Anne Pagnier, Gilles Paluenzela, Pascal Chastagner, Gwenaelle Duhil-De Benaze, Victoria Min, Helene Sudour-Bonnange, Catherine Piette, Natacha Entz-Werle, Sylvie Chabaud, Nicolas Andre
Summary: This study retrospectively analyzed pediatric patients with relapsed high-risk brain tumors treated with the METMAT or METMAT-like regimen. It found that this treatment approach can lead to sustained control of the tumors, with the best outcomes observed at first relapse.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Oncology
Pierre Leblond, Emmanuelle Tresch-Bruneel, Alicia Probst, Nadege Neant, Caroline Solas, Arthur Sterin, Thomas Boulanger, Isabelle Aerts, Cecile Faure-Conter, Anne-Isabelle Bertozzi, Pascal Chastagner, Natacha Entz-Werle, Emilie De Carli, Marie-Cecile Le Deley, Gauthier Bouche, Nicolas Andre
Summary: This study tested the repurposing of two non-anticancer drugs to provide less toxic therapeutic options for children with gliomas. The recommended phase II dose of fluvastatin in combination with celecoxib for children with gliomas is 6mg/kg/day, with a fixed daily dose of celecoxib depending on weight. This combination may be explored as a maintenance treatment in low-grade glioma patients to delay tumor recurrence.
Article
Immunology
Caroline Donze, Victoria Min, Laetitia Ninove, Xavier de Lamballerie, Gabriel Revon Riviere, Arnauld Verschuur, Paul Saultier, Nicolas Andre
Summary: This study evaluated the adverse effects and immunological response associated with BNT162B2 vaccination in children and young adults with cancer. The results showed that most patients had an increase in antibody levels and the vaccine was effective in neutralizing the SARS-CoV-2 virus. In addition, COVID-19 infections after vaccination were mild in all cases.
Letter
Biochemistry & Molecular Biology
Birgit Geoerger, Xavier Paoletti, Francisco Bautista, Susanne A. Gatz, Lynley V. Marshall, Nicolas Andre, Pablo Berlanga, Stephane Ducassou, Claudia Pasqualini, Michela Casanova, C. Michel Zwaan, Karsten Nysom, Jonathan Rubino, Delphine Vuillier-Le Goff, Baptiste Archambaud, Samuel Abbou, Gudrun Schleiermacher, Christelle Dufour, Patricia Blanc, Natalie Hoog-Labouret, Agnes Buzyn, Gilles Vassal
