keyword
https://read.qxmd.com/read/38313847/management-of-monogenic-diabetes-in-pregnancy-a-narrative-review
#21
REVIEW
Mohammad Sadiq Jeeyavudeen, Sarah R Murray, Mark W J Strachan
Pregnancy in women with monogenic diabetes is potentially complex, with significant implications for both maternal and fetal health. Among these, maturity-onset diabetes of the young (MODY) stands out as a prevalent monogenic diabetes subtype frequently encountered in clinical practice. Each subtype of MODY requires a distinct approach tailored to the pregnancy, diverging from management strategies in non-pregnant individuals. Glucokinase MODY (GCK-MODY) typically does not require treatment outside of pregnancy, but special considerations arise when a woman with GCK-MODY becomes pregnant...
January 15, 2024: World Journal of Diabetes
https://read.qxmd.com/read/38303767/not-all-diabetic-ketoacidosis-in-infant-is-type-1-a-case-report-permanent-neonatal-diabetes
#22
Doua Khalid Al Homyani, Lina Al Homaiani
BACKGROUND/OBJECTIVE: Neonatal diabetes is a monogenic type of diabetes mellitus. It arises at the first 6 months of age and can be classified as permanent or transient. There are limited cases of neonates with DKA who have heterozygous mutations in INS and PKHD1 genes, especially in Saudi Arabia. We present a case of neonatal diabetes with diabetic ketoacidosis (DKA) born to consanguineous parents in Saudi Arabia. This study aims to highlight the importance of the genetic mutations associated with neonatal diabetes and identify the clinical manifestation features of neonatal diabetes...
2024: AACE Clinical Case Reports
https://read.qxmd.com/read/38302651/bardet-biedl-syndrome-a-focus-on-genetics-mechanisms-and-metabolic-dysfunction
#23
JOURNAL ARTICLE
Jeremy W Tomlinson
Bardet-Biedl syndrome (BBS) is a rare, monogenic, multisystem disorder characterized by retinal dystrophy, renal abnormalities, polydactyly, learning disabilities, as well as metabolic dysfunction, including obesity and an increased risk of type 2 diabetes. It is a primary ciliopathy, and causative mutations in more than 25 different genes have been described. Multiple cellular mechanisms contribute to the development of the metabolic phenotype associated with BBS, including hyperphagia as a consequence of altered hypothalamic appetite signalling as well as alterations in adipocyte biology promoting adipocyte proliferation and adipogenesis...
February 1, 2024: Diabetes, Obesity & Metabolism
https://read.qxmd.com/read/38299270/what-do-we-know-about-neonatal-diabetes-caused-by-pdx1-mutations
#24
JOURNAL ARTICLE
Ritiele Bastos de Souza, Pedro Hernán Cabello, Eliane Lopes Rosado, Mário Campos Junior, Gabriella Medeiros de Abreu
INTRODUCTION: Neonatal diabetes mellitus (NDM) is characterized by severe hyperglycemia, usually diagnosed in the first few months of an individual's life. It is a genetic disease and one of the main forms of monogenic diabetes. Changes in different genes have already been associated with NDM, including changes in the gene PDX1. METHODS: In this review, we intend to summarize all neonatal diabetes cases caused by PDX1 mutations reported in the literature. For this purpose, we searched keywords in the literature from PubMed and articles cited by the HGMD database...
January 29, 2024: Current Diabetes Reviews
https://read.qxmd.com/read/38279270/congenital-hyperinsulinism-in-humans-and-insulin-secretory-dysfunction-in-mice-caused-by-biallelic-dnajc3-variants
#25
JOURNAL ARTICLE
Alena Welters, Oliver Nortmann, Laura Wörmeyer, Clemens Freiberg, Daniel Eberhard, Nadine Bachmann, Carsten Bergmann, Ertan Mayatepek, Thomas Meissner, Sebastian Kummer
The BiP co-chaperone DNAJC3 protects cells during ER stress. In mice, the deficiency of DNAJC3 leads to beta-cell apoptosis and the gradual onset of hyperglycemia. In humans, biallelic DNAJC3 variants cause a multisystem disease, including early-onset diabetes mellitus. Recently, hyperinsulinemic hypoglycemia (HH) has been recognized as part of this syndrome. This report presents a case study of an individual with HH caused by DNAJC3 variants and provides an overview of the metabolic phenotype of individuals with HH and DNAJC3 variants...
January 20, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38278947/genetic-architecture-and-biology-of-youth-onset-type-2-diabetes
#26
JOURNAL ARTICLE
Soo Heon Kwak, Shylaja Srinivasan, Ling Chen, Jennifer Todd, Josep M Mercader, Elizabeth T Jensen, Jasmin Divers, Amy K Mottl, Catherine Pihoker, Rachelle G Gandica, Lori M Laffel, Elvira Isganaitis, Morey W Haymond, Lynne L Levitsky, Toni I Pollin, Jose C Florez, Jason Flannick
The prevalence of youth-onset type 2 diabetes (T2D) and childhood obesity has been rising steadily1 , producing a growing public health concern1 that disproportionately affects minority groups2 . The genetic basis of youth-onset T2D and its relationship to other forms of diabetes are unclear3 . Here we report a detailed genetic characterization of youth-onset T2D by analysing exome sequences and common variant associations for 3,005 individuals with youth-onset T2D and 9,777 adult control participants matched for ancestry, including both males and females...
January 26, 2024: Nature metabolism
https://read.qxmd.com/read/38245004/ciliopathy-due-to-poc1a-deficiency-clinical-and-metabolic-features-and-cellular-modeling
#27
JOURNAL ARTICLE
Kevin Perge, Emilie Capel, Carine Villanueva, Jérémie Gautheron, Safiatou Diallo, Martine Auclair, Sophie Rondeau, Romain Morichon, Frédéric Brioude, Isabelle Jéru, Massimiliamo Rossi, Marc Nicolino, Corinne Vigouroux
OBJECTIVE: SOFT syndrome (MIM#614813), denoting Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis, is a rare primordial dwarfism syndrome caused by biallelic variants in POC1A, encoding a centriolar protein. SOFT syndrome, characterized by severe growth failure of prenatal onset and dysmorphic features, was recently associated with insulin resistance. This study aims to further explore its endocrinological features and pathophysiological mechanisms. DESIGN/METHODS: We present clinical, biochemical, and genetic features of 2 unrelated patients carrying biallelic pathogenic POC1A variants...
February 1, 2024: European Journal of Endocrinology
https://read.qxmd.com/read/38226203/a-synonymous-kcnj11-variant-leading-to-mody13-a-case-report-and-literature-review
#28
Congli Chen, Yurong Piao, Yanmei Sang
BACKGROUND: Maturity-onset diabetes of the young, type 13 (MODY13) is a specific subclass of monogenic diabetes mellitus that does not exhibit the typical clinical manifestations of diabetes, necessitating the use of genetic testing for accurate diagnosis. With the progression of monogenic diabetes and MODY, the number of reported MODY13 cases has reached a minimum of 22. Nevertheless, there remains a dearth of information regarding patients diagnosed with MODY13 presenting synonymous variants...
March 2024: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/38222792/genetic-perspectives-on-childhood-monogenic-diabetes-diagnosis-management-and-future-directions
#29
REVIEW
Hong-Yan Sun, Xiao-Yan Lin
Monogenic diabetes is caused by one or even more genetic variations, which may be uncommon yet have a significant influence and cause diabetes at an early age. Monogenic diabetes affects 1 to 5% of children, and early detection and gene-tically focused treatment of neonatal diabetes and maturity-onset diabetes of the young can significantly improve long-term health and well-being. The etiology of monogenic diabetes in childhood is primarily attributed to genetic variations affecting the regulatory genes responsible for beta-cell activity...
December 15, 2023: World Journal of Diabetes
https://read.qxmd.com/read/38196618/rare-disease-gene-association-discovery-from-burden-analysis-of-the-100-000-genomes-project-data
#30
Valentina Cipriani, Letizia Vestito, Emma F Magavern, Julius Ob Jacobsen, Gavin Arno, Elijah R Behr, Katherine A Benson, Marta Bertoli, Detlef Bockenhauer, Michael R Bowl, Kate Burley, Li F Chan, Patrick Chinnery, Peter Conlon, Marcos Costa, Alice E Davidson, Sally J Dawson, Elhussein Elhassan, Sarah E Flanagan, Marta Futema, Daniel P Gale, Sonia García-Ruiz, Cecilia Gonzalez Corcia, Helen R Griffin, Sophie Hambleton, Amy R Hicks, Henry Houlden, Richard S Houlston, Sarah A Howles, Robert Kleta, Iris Lekkerkerker, Siying Lin, Petra Liskova, Hannah Mitchison, Heba Morsy, Andrew D Mumford, William G Newman, Ruxandra Neatu, Edel A O'Toole, Albert Cm Ong, Alistair T Pagnamenta, Shamima Rahman, Neil Rajan, Peter N Robinson, Mina Ryten, Omid Sadeghi-Alavijeh, John A Sayer, Claire L Shovlin, Jenny C Taylor, Omri Teltsh, Ian Tomlinson, Arianna Tucci, Clare Turnbull, Albertien M van Eerde, James S Ware, Laura M Watts, Andrew R Webster, Sarah K Westbury, Sean L Zheng, Mark Caulfield, Damian Smedley
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and their family members recruited to the 100,000 Genomes Project (100KGP). Following in silico triaging of the results, 88 novel associations were identified including 38 with existing experimental evidence. We have published the confirmation of one of these associations, hereditary ataxia with UCHL1 , and independent confirmatory evidence has recently been published for four more...
December 21, 2023: medRxiv
https://read.qxmd.com/read/38170957/pathogenic-total-loss-of-function-dyrk1b-variants-cause-monogenic-obesity-associated-with-type-2-diabetes
#31
JOURNAL ARTICLE
Lise Folon, Morgane Baron, Victoria Scherrer, Bénédicte Toussaint, Emmanuel Vaillant, Hélène Loiselle, Aurélie Dechaume, Frédérique De Pooter, Raphaël Boutry, Mathilde Boissel, Aboubacar Diallo, Lijiao Ning, Beverley Balkau, Guillaume Charpentier, Sylvia Franc, Michel Marre, Mehdi Derhourhi, Philippe Froguel, Amélie Bonnefond
OBJECTIVE: Rare variants in DYRK1B have been described in some patients with central obesity, type 2 diabetes, and early-onset coronary disease. Owing to the limited number of conducted studies, the broader impact of DYRK1B variants on a larger scale has yet to be investigated. RESEARCH DESIGN AND METHODS: DYRK1B was sequenced in 9,353 participants from a case-control study for obesity and type 2 diabetes. Each DYRK1B variant was functionally assessed in vitro...
January 3, 2024: Diabetes Care
https://read.qxmd.com/read/38151964/glucagon-like-peptide-1-analogues-in-monogenic-syndromic-obesity-real-world-data-from-a-large-cohort-of-alstr%C3%A3-m-syndrome-patients
#32
JOURNAL ARTICLE
Sadaf Ali, Shanat Baig, Subadra Wanninayake, Gabriela da Silva Xavier, Charlotte Dawson, Richard Paisey, Tarekegn Geberhiwot
AIM: To examine the real-world efficacy of glucagon-like peptide-1 receptor agonists (GLP-1 RAs) in monogenic obesity in patients with Alström syndrome (ALMS). METHODS: We screened 72 UK adult patients with ALMS and offered treatment to 34 patients meeting one of the following criteria: body mass index of 25 kg/m2 or higher, insulin resistance, suboptimal glycaemic control on antihyperglycaemic medications or non-alcoholic fatty liver disease. RESULTS: In total, 30 patients, with a mean age of 31 ± 11 years and a male to-female ratio of 2:1, completed 6 months of treatment with GLP-1 RAs either in the form of semaglutide or exenatide...
December 27, 2023: Diabetes, Obesity & Metabolism
https://read.qxmd.com/read/38144640/unknown-presentation-of-a-rare-genetic-disorder-monogenic-diabetes-in-young-type-4-presenting-with-hepatic-cysts-and-procoagulant-state
#33
Anupam Kumar, Ankit Kumar, Samir Samadarshi, Manish Manrai, Manvir Singh Tevatia, Saurabh Dawra
Maturity onset diabetes in young (MODY) is the most common form of monogenic diabetes, which characteristically presents in adolescents and young adults. Till date, pathogenic variations involving 14 different genes have been causally implicated with the development of MODY. Maturity onset diabetes in young type 4 (MODY-4) is a very rare form of MODY. We present here case of 28-year-old nonobese male patient with distinct family history of diabetes spanning two generations, incidentally, detected to have a rare form of diabetes on genetic analysis when he presented with recurrent thromboembolic manifestations: deep vein thrombosis and pulmonary thromboembolism...
December 2023: Medical Journal, Armed Forces India
https://read.qxmd.com/read/38141807/dominant-pdx1-deficiency-causes-highly-penetrant-diabetes-at-different-ages-associated-with-obesity-and-exocrine-pancreatic-deficiency-lessons-for-precision-medicine
#34
JOURNAL ARTICLE
Youssef Kouidrat, Lauriane Le Collen, Martine Vaxillaire, Aurélie Dechaume, Bénédicte Toussaint, Emmanuel Vaillant, Souhila Amanzougarene, Mehdi Derhourhi, Brigitte Delemer, Mustapha Azahaf, Philippe Froguel, Amélie Bonnefond
OBJECTIVE: Heterozygous pathogenic or likely pathogenic (P/LP) PDX1 variants cause monogenic diabetes. We comprehensively examined the phenotypes of carriers of P/LP PDX1 variants, and delineated potential treatments that could be efficient in an objective of precision medicine. METHODS: The study primarily involved a family harboring a novel P/LP PDX1 variant. We then conducted an analysis of documented carriers of P/LP PDX1 variants, from the Human Gene Mutation Database (HGMD), RaDiO study, and Type 2 Diabetes Knowledge Portal (T2DKP) including 87K participants...
December 21, 2023: Diabetes & Metabolism
https://read.qxmd.com/read/38105897/adeno-associated-virus-vectors-for-retinal-gene-therapy-in-basic-research-and-clinical-studies
#35
REVIEW
Xue Xia, Xinzheng Guo
Retinal degenerative diseases, including glaucoma, age-related macular degeneration, diabetic retinopathy, and a broad range of inherited retinal diseases, are leading causes of irreversible vision loss and blindness. Gene therapy is a promising and fast-growing strategy to treat both monogenic and multifactorial retinal disorders. Vectors for gene delivery are crucial for efficient and specific transfer of therapeutic gene(s) into target cells. AAV vectors are ideal for retinal gene therapy due to their inherent advantages in safety, gene expression stability, and amenability for directional engineering...
2023: Frontiers in Medicine
https://read.qxmd.com/read/38103636/insulin-regulates-human-pancreatic-endocrine-cell-differentiation-in-vitro
#36
JOURNAL ARTICLE
Perla Cota, Özüm Sehnaz Caliskan, Aimee Bastidas-Ponce, Changying Jing, Jessica Jaki, Lama Saber, Oliver Czarnecki, Damla Taskin, Anna Karolina Blöchinger, Thomas Kurth, Michael Sterr, Ingo Burtscher, Natalie Krahmer, Heiko Lickert, Mostafa Bakhti
OBJECTIVE: The consequences of mutations in genes associated with monogenic forms of diabetes on pancreas development cannot be studied in a time-resolved fashion in vivo. More specifically, if recessive mutations in the insulin gene influences human pancreatic endocrine lineage formation is still an unresolved question. METHODS: To model the extremely reduced insulin levels in patients with recessive insulin gene mutations, we generated a novel knock-in H2B-Cherry reporter human induced pluripotent stem cell (iPSCs) line expressing no insulin upon differentiation to stem cell-derived (SC-) β cells in vitro...
December 14, 2023: Molecular Metabolism
https://read.qxmd.com/read/38097032/a-systematic-review-of-metabolomic-findings-in-adult-and-pediatric-renal-disease
#37
REVIEW
Lennart Moritz, Anke Schumann, Martin Pohl, Anna Köttgen, Luciana Hannibal, Ute Spiekerkoetter
Chronic kidney disease (CKD) affects over 0.5 billion people worldwide across their lifetimes. Despite a growingly ageing world population, an increase in all-age prevalence of kidney disease persists. Adult-onset forms of kidney disease often result from lifestyle-modifiable metabolic illnesses such as type 2 diabetes. Pediatric and adolescent forms of renal disease are primarily caused by morphological abnormalities of the kidney, as well as immunological, infectious and inherited metabolic disorders. Alterations in energy metabolism are observed in CKD of varying causes, albeit the molecular mechanisms underlying pathology are unclear...
December 12, 2023: Clinical Biochemistry
https://read.qxmd.com/read/38095268/clinical-and-genetic-characteristics-of-maturity-onset-diabetes-of-the-young-type-13-a-systematic-review-of-the-literature
#38
REVIEW
Yaning Chen, Xiaodong Hu, Mingwei Zhao
OBJECTIVE: Maturity-onset diabetes of the young type 13 (MODY13), a rare type of monogenic diabetes, is often misdiagnosed as type 1 or type 2 diabetes. To improve early diagnosis and precise treatment, we performed a systematic review and analysis of the literature about MODY13. METHODS: PubMed, Cochrane, Embase, China National Knowledge Infrastructure (CNKI), Chinese BioMedical (CBM) Literature Database, and Wanfang Database were searched using the following search terms: "MODY13," "KCNJ11 maturity-onset diabetes of the young," "KCNJ11-MODY," "maturity-onset diabetes of the young type 13," and "neonatal diabetes mellitus KCNJ11...
December 14, 2023: Journal of Diabetes
https://read.qxmd.com/read/38054414/screening-of-mutations-in-maturity-onset-diabetes-of-the-young-related-genes-and-rfx6-in-children-with-autoantibody-negative-type-1-diabetes-mellitus
#39
JOURNAL ARTICLE
Enver Şimşek, Oguz Cilingir, Tulay Simsek, Sinem Kocagil, Ebru Erzurumluoglu Gokalp, Meliha Demiral, Cigdem Binay
OBJECTIVE: Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes. To date, mutations have been identified in 14 different genes of patients with a clinical diagnosis of MODY. This study screened mutations in 14 MODY-related genes and the regulator factor X6 (RFX6) gene in children. MATERIALS AND METHODS: The presence of clinical features of MODY and negative results for three autoantibody markers of T1DM in children and adolescents were used as inclusion criteria for genetic testing...
December 6, 2023: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38028995/precision-medicine-in-type-2-diabetes-mellitus-utility-and-limitations
#40
REVIEW
Raffaele Galiero, Alfredo Caturano, Erica Vetrano, Marcellino Monda, Raffaele Marfella, Celestino Sardu, Teresa Salvatore, Luca Rinaldi, Ferdinando Carlo Sasso
Type 2 diabetes mellitus (T2DM) is one of the most widespread diseases in Western countries, and its incidence is constantly increasing. Epidemiological studies have shown that in the next 20 years. The number of subjects affected by T2DM will double. In recent years, owing to the development and improvement in methods for studying the genome, several authors have evaluated the association between monogenic or polygenic genetic alterations and the development of metabolic diseases and complications. In addition, sedentary lifestyle and socio-economic and pandemic factors have a great impact on the habits of the population and have significantly contributed to the increase in the incidence of metabolic disorders, obesity, T2DM, metabolic syndrome, and liver steatosis...
2023: Diabetes, Metabolic Syndrome and Obesity
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