Article
Medicine, General & Internal
Amelie Bonnefond, Ranjit Unnikrishnan, Alessandro Doria, Martine Vaxillaire, Rohit N. Kulkarni, Viswanathan Mohan, Vincenzo Trischitta, Philippe Froguel
Summary: Monogenic diabetes encompasses several clinical conditions characterized by early-onset diabetes, including neonatal diabetes, maturity-onset diabetes of the young (MODY) and diabetes-associated syndromes. It can be misdiagnosed as type 2 diabetes, and different genetic variations can lead to different forms of diabetes. Precision medicine approaches and next-generation sequencing have improved diagnosis and treatment options.
NATURE REVIEWS DISEASE PRIMERS
(2023)
Review
Medicine, Research & Experimental
Haichen Zhang, Kevin Colclough, Anna L. Gloyn, Toni I. Pollin
Summary: Monogenic diabetes, caused by mutations in a single gene, accounts for 1%-5% of diabetes cases. Correct diagnosis is crucial, but overlapping clinical features with type 1 and type 2 diabetes often lead to misdiagnosis. Improvements in sequencing technology offer opportunities for diagnosis, but challenges still remain.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Clinical Neurology
Bo Wu, Wei Xu
Summary: Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes. Most studies have focused on gene mutations associated with NDM and the therapeutic effects of SUs, while there is limited research on NDM-associated intracranial hemorrhage (ICH).
FRONTIERS IN NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
Gokhan Dalgin, Andrew K. Tryba, Ashley P. Cohen, Soo-Young Park, Louis H. Philipson, Siri Atma W. Greeley, Alfredo J. I. I. I. I. I. I. Garcia
Summary: This study utilized human induced pluripotent stem cells to generate cerebral organoids carrying a KCNJ11 mutation, demonstrating the impact of the mutation on neural network development and function. Differential analysis revealed a decrease in neuron number and reduced neural network synchronization due to the mutation, with partial improvement observed with continuous treatment of the K-ATP blocker.
SCIENTIFIC REPORTS
(2021)
Article
Biology
Nada Alqadri
Summary: This study investigated the genotyping levels of rs5210 polymorphism in the KCNJ11 gene in the older population with T2DM in Saudi Arabia. The results showed an association between the rs5210 polymorphism and allele frequencies. However, further large-scale studies are needed to determine whether KCNJ11 gene polymorphisms may serve as risk markers for T2DM in the Saudi population.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2022)
Review
Endocrinology & Metabolism
Li-Mei Li, Bei-Ge Jiang, Liang-Liang Sun
Summary: Diabetes is a highly heterogeneous metabolic disease with different types and clinical manifestations. Distinguishing between types and defining subtypes is a major challenge in precise treatment. T2D is the main type of diabetes, and certain gene variants have been shown to increase the risk of T2D. HNF1 alpha gene mutations can cause different types of diabetes and exhibit high polymorphism.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Francesca Harrington, Mark Greenslade, Kevin Colclough, Ryan Paul, Craig Jefferies, Rinki Murphy
Summary: This study aims to evaluate the diagnostic yield of genetic testing for monogenic diabetes in the New Zealand population using single gene and gene panel-based approaches. It also assesses the effectiveness of the MODY pre-test probability calculator in guiding referrals for testing, and examines the referral rates for Maori/Pacific ethnicities compared to NZ European. The results show variable detection rates across genes, with an overall average detection rate of 12% for single gene or small gene panel testing. A new testing algorithm is proposed, suggesting the use of a large gene panel for patients without syndromic features who score a pre-test MODY probability of above 20%.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Editorial Material
Endocrinology & Metabolism
Stepanka Pruhova, Petra Dusatkova
Summary: A significant number of autoantibody-negative children with type 1 diabetes mellitus may actually have monogenic forms of diabetes mellitus, allowing for tailored treatment. Therefore, a diagnosis of monogenic diabetes mellitus should be considered and genetically tested for in this patient group, even if they do not meet the clinical criteria for monogenic diabetes mellitus.
NATURE REVIEWS ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
David T. Broome, Kevin M. Pantalone, Sangeeta R. Kashyap, Louis H. Philipson
Summary: Maturity-onset diabetes of the young (MODY) is a genetic form of diabetes that remains underdiagnosed. Diagnosis involves clinical presentation, family history, lab, and genetic testing. Treatment and monitoring depend on the identified variant.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Review
Endocrinology & Metabolism
Batoul Hammoud, Siri Atma W. Greeley
Summary: This review summarizes the growth and neurodevelopmental difficulties among individuals with neonatal diabetes mellitus (NDM). Patients with NDM often experience intrauterine growth restriction and/or low birth weight, which can lead to ongoing growth concerns and neurodevelopmental issues. Different gene causes of NDM are associated with varying degrees of growth restriction and neurodevelopmental disability.
CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY
(2022)
Article
Multidisciplinary Sciences
Maryam Moazzam-Jazi, Leila Najd-Hassan-Bonab, Sajedeh Masjoudi, Maryam Tohidi, Mehdi Hedayati, Fereidoun Azizi, Maryam S. Daneshpour
Summary: This study investigates the association of common KCNJ11 variants with type 2 diabetes (T2D) in Iranian adults and conducts a meta-analysis. The results show that KCNJ11 variants are not associated with T2D incidence in Iranian adults, but certain variants are significantly associated with increased T2D susceptibility in diverse populations. The meta-analysis also highlights the impact of sample size on the magnitude of pooled genetic effect size.
SCIENTIFIC REPORTS
(2022)
Article
Endocrinology & Metabolism
Valentina Mancioppi, Erica Pozzi, Sara Zanetta, Anna Missineo, Silvia Savastio, Fabrizio Barbetti, Simona Mellone, Mara Giordano, Ivana Rabbone
Summary: Neonatal diabetes mellitus (NDM) is a rare genetic disease characterized by severe hyperglycemia. The disease can be temporary or permanent, and is often caused by abnormalities in specific genetic regions or mutations in certain genes. Insulin therapy can be switched to hypoglycemic sulfonylureas after the acute phase, but the timing of this switch can affect long-term complications.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Genetics & Heredity
Wout Weuring, Jeroen Geerligs, Bobby P. C. Koeleman
Summary: In the past decade, novel genome editing and transient gene therapies have paved the way for the first in-human clinical trials for monogenic disorders. Syndromic autism spectrum disorders, caused by mutations in a single gene, are ideal candidates for gene therapies due to their monogenic nature and severity. When considering various forms of gene therapy, the best option must be chosen based on the specific gene and mutation.
Article
Endocrinology & Metabolism
Hussein Zaitoon, Ronit Lubetzky, Achiya Z. Amir, Hadar Moran-Lev, Liora Sagi, Michal Yacobi-Bach, Ophir Borger, Efrat Chorna, Yael Lebenthal, Avivit Brener
Summary: This study aims to report on the effects of adjuvant therapy with liraglutide in rare genetic diagnoses causing early-onset obesity and complications. Case 1 and Case 2 showed significant improvements in weight and metabolism with liraglutide treatment. Case 3 demonstrated gradual recovery of metabolic complications and reduced use of other medications with liraglutide therapy. This treatment modality could be a game changer in challenging cases.
ACTA DIABETOLOGICA
(2023)
Article
Engineering, Biomedical
Yi Wang, Li-Fan Hu, Tian-Jiao Zhou, Lian-Yu Qi, Lei Xing, Jaiwoo Lee, Feng-Zhen Wang, Yu-Kyoung Oh, Hu-Lin Jiang
Summary: Rare monogenic disorders, with low incidence rates, face challenges in attracting commercial investment and research interest due to small affected populations, but advancements in gene therapy offer potential effective treatments for these diseases.
Article
Ecology
Andres Valenzuela-Sanchez, Claudio Azat, Andrew A. Cunningham, Soledad Delgado, Leonardo D. Bacigalupe, Jaime Beltrand, Jose M. Serrano, Hugo Sentenac, Natashja Haddow, Veronica Toledo, Benedikt R. Schmidt, Hugo Cayuela
Summary: The study indicates that compensatory recruitment in response to Bd infection is crucial for maintaining population survival. Populations with high Bd prevalence exhibited higher adult recruitment and male reproductive effort, while populations with low Bd prevalence showed lower recruitment and survival rates.
JOURNAL OF ANIMAL ECOLOGY
(2022)
Article
Endocrinology & Metabolism
Laura Gabriela Gonzalez Briceno, Dulanjalee Kariyawasam, Dinane Samara-Boustani, Elisa Giani, Jacques Beltrand, Stephanie Bolle, Brice Fresneau, Stephanie Puget, Christian Sainte-Rose, Claire Alapetite, Graziella Pinto, Marie-Liesse Piketty, Severine Brabant, Samuel Abbou, Isabelle Aerts, Kevin Beccaria, Marie Bourgeois, Thomas Roujeau, Thomas Blauwblomme, Federico Di Rocco, Caroline Thalassinos, Christian Pauwels, Charlotte Rigaud, Syril James, Kanetee Busiah, Albane Simon, Franck Bourdeaut, Lauriane Lemelle, Lea Guerrini-Rousseau, Daniel Orbach, Philippe Touraine, Francois Doz, Christelle Dufour, Jacques Grill, Michel Polak
Summary: This study described the endocrine follow-up of patients with primary brain tumors and found a high incidence of early-onset endocrine disorders. It is recommended to conduct endocrine consultation and nutritional evaluation for all brain tumor patients, especially those with suprasellar tumors or after hypothalamus/pituitary irradiation.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Marie Mouler, Yael Lebenthal, Liat de Vries, Michal Yackobovitch-Gavan, Noa Sheffer Averbuch, Anne Laure Fauret-Amsellem, Helene Cave, Jacques Beltrand, Michel Polak, Moshe Phillip, Revital Nimri
Summary: Neonatal diabetes mellitus (NDM) patients have specific genetic and treatment characteristics, with some developing chronic diabetes complications after long-term illness. Patients with transient neonatal diabetes have higher height and weight and catch-up growth rapidly to reach normal growth parameters.
PEDIATRIC DIABETES
(2022)
Letter
Endocrinology & Metabolism
Juliette Delpeut, Elisa Giani, Dalila Louet, Marc de Kerdanet, Carine Choleau, Jacques Beltrand
DIABETES & METABOLISM
(2022)
Article
Peripheral Vascular Disease
Mouad Hamzaoui, Deborah Groussard, Dorian Nezam, Zoubir Djerada, Gaspard Lamy, Virginie Tardif, Anais Dumesnil, Sylvanie Renet, Valery Brunel, Dorien J. M. Peters, Laurence Chevalier, Melanie Hanoy, Paul Mulder, Vincent Richard, Jeremy Bellien, Dominique Guerrot
Summary: This study provides the first in vivo demonstration that specific deletion of Pkd1 in endothelial cells promotes endothelial dysfunction and hypertension, impairs arteriovenous fistula development, and potentiates the cardiovascular alterations associated with chronic kidney disease.
Article
Biochemistry & Molecular Biology
Jean Selim, Mouad Hamzaoui, Antoine Ghemired, Zoubir Djerada, Laurence Chevalier, Nicolas Piton, Emmanuel Besnier, Thomas Clavier, Anais Dumesnil, Sylvanie Renet, Paul Mulder, Fabien Doguet, Fabienne Tamion, Benoit Veber, Jeremy Bellien, Vincent Richard, Jean-Marc Baste
Summary: The use of human albumin and hypertonic sodium lactate as priming agents during mechanical circulatory support in lung transplantation can reduce pulmonary endothelial dysfunction. However, hypertonic sodium lactate may lead to the development of pulmonary edema.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pharmacology & Pharmacy
Nicolas Laures, Celine Konecki, Mathias Brugel, Anne-Lise Giffard, Naceur Abdelli, Damien Botsen, Claire Carlier, Claire Gozalo, Catherine Feliu, Florian Slimano, Zoubir Djerada, Olivier Bouche
Summary: Prospective assessment of uracil concentration and 5-FU dosage adjustment may help reduce 5-FU toxicity.
Letter
Toxicology
Pierre-Antoine Seube, Zoubir Djerada, Celine Konecki, Vincent Dupont, Antoine Goury
CLINICAL TOXICOLOGY
(2023)
Article
Oncology
Koceila Amroun, Raphael Chaltiel, Fabien Reyal, Reza Kianmanesh, Aude-Marie Savoye, Marine Perrier, Zoubir Djerada, Olivier Bouche
Summary: Using a joint model (JM) of longitudinal CA-125 level during neoadjuvant chemotherapy (NAC) is a reliable predictor of complete interval cytoreductive surgery (ICRS) feasibility in patients with advanced ovarian cancer (AOC), helping to avoid unnecessary laparotomy.
Article
Pediatrics
A. Vincent, C. Bouvattier, C. Teinturier, D. Rodrigue, K. Busiah, I. Olivier-Petit, H. Bony, P. Barat, B. Cammas, R. Coutant, A. Lienhardt, A. Linglart, A. -s. Lambert
Summary: We evaluated catch-up growth in children with severe Hashimoto's hypothyroidism (HH) after thyroid hormone replacement therapy (HRT). In the most severe cases, administration of GH may enhance catch-up growth, although catch-up growth seems to be insufficient after treatment with HRT alone.
ARCHIVES DE PEDIATRIE
(2023)
Article
Pharmacology & Pharmacy
Celine Konecki, Manne Holm, Zoubir Djerada
Summary: Morphine administration and ST-segment elevation myocardial infarction (STEMI) have a negative impact on the pharmacokinetics (PK) and pharmacodynamics (PD) of ticagrelor, increasing the risk of high platelet reactivity (HPR) and dyspnea. Increasing ticagrelor doses can reverse the negative morphine effect in non-STEMI patients, but the STEMI effect is not entirely reversible.
CLINICAL PHARMACOKINETICS
(2023)
Review
Pharmacology & Pharmacy
Federica Tralongo, Celine Konecki, Catherine Feliu, Arthur Kaladjian, Zoubir Djerada
Summary: This study investigated the link between clozapine plasma concentrations and clinical response using meta-analysis of published studies and individual participant data. The results showed that responders had higher clozapine plasma concentrations than non-responders, with a mean difference of 117 ng/mL. A threshold level of 407 ng/mL was determined for a favorable clinical response, with a sensitivity of 71% and a specificity of 89.1%.
CLINICAL PHARMACOKINETICS
(2023)
Article
Oncology
Benjamin Durey, Zoubir Djerada, Fairuz Boujibar, Emmanuel Besnier, Francois Montagne, Jean-Marc Baste, Marie-Melody Dusseaux, Vincent Compere, Thomas Clavier, Jean Selim
Summary: One major issue in thoracic surgery is post-operative pain management. Paravertebral block (PVB) has become the preferred technique, but new chest wall blocks such as erector spinae plane block (ESPB) have been introduced to reduce complications. This study compared the impact of ESPB and PVB on post-operative pain after thoracic surgery, and found that ESPB resulted in less pain at 24 hours.
Article
Endocrinology & Metabolism
Alfonso Galderisi, Dulanjalee Kariyawasam, Athanasia Stoupa, Adrien Nguyen Quoc, Graziella Pinto, Magali Viaud, Severine Brabant, Jacques Beltrand, Michel Polak, Dinane Samara-Boustani
Summary: This study observed the daytime glucose profile of 11 children with classical CAH, finding a higher risk of nighttime hypoglycemia and a disruption in daily glucose patterns paralleled by lower cortisol levels. The duration of hypoglycemia was associated with lower cortisol levels in the early morning and late evening.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Medical Informatics
Dulanjalee Kariyawasam, Carole Morin, Kristina Casteels, Claire Le Tallec, Annie Sfez, Cecile Godot, Erik Huneker, Nathalie Garrec, Pierre-Yves Benhamou, Michel Polak, Guillaume Charpentier, Sylvia Franc, Jacques Beltrand
Summary: The study evaluated the safety and efficiency of the Diabeloop DBL4K hybrid closed-loop system in prepubescent children with type 1 diabetes. The closed-loop system reduced the occurrence of hypoglycaemic episodes and provided good metabolic control.
LANCET DIGITAL HEALTH
(2022)