Article
Endocrinology & Metabolism
Dara Aldisi, Mohammed G. A. Ansari, Syed Danish Hussain, Abdulrahman Al-Matary, Fahima Mohamad AlSomali, Reem Ibrahem Alturaif, Ihtisham Bukhari
Summary: Diabetes Mellitus (DM) is a common disorder affecting people of all ages, and the rates of gestational diabetes mellitus (GDM) and neonatal diabetes mellitus (NDM) are increasing. However, the genetic causes and relationship between GDM and NDM are not yet established, especially in the Arab population. This study explored the prevalence of ABCC8 and KCNJ11 variants in Saudi neonates and analyzed the influence of parental diabetes and GDM on NDM.
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS
(2023)
Article
Medicine, General & Internal
Nam Quang Tran, Steven D. Truong, Phat Tung Ma, Chi Khanh Hoang, Bao Hoang Le, Thang Tat Ngo Dinh, Luong Van Tran, Thang Viet Tran, Linh Hoang Gia Le, Khuong Thai Le, Hien Thanh Nguyen, Hoang Anh Vu, Thao Phuong Mai, Minh Duc Do
Summary: This study investigates the potential associations of KCNJ11 and ABCC8 single nucleotide polymorphisms (SNPs) with type 2 diabetes mellitus (T2DM) in Vietnamese population. The results show that rs5219 is associated with an increased risk of T2DM, while rs2285676, rs1799859, and rs757110 are not. Haplotype analysis suggests a strong linkage disequilibrium between these SNPs. Functional characterization is needed to uncover the mechanism underlying the potential genotype-phenotype associations.
Article
Pediatrics
Sapna Nayak, Aditya Narayan Sarangi, Saroj Kumar Sahoo, Pragya Mangla, Manoranjan Tripathy, Sudha Rao, Suchit Gupta, Vimal Kumar Paliwal, Siddhnath Sudhanshu, Chaitra Ravi, Kriti Joshi, Vijayalakshmi Bhatia, Eesh Bhatia
Summary: The study conducted a retrospective analysis of 12 neonatal diabetes mellitus patients, identifying 5 novel mutations and rare manifestations in some patients. It was found that in India, permanent neonatal diabetes mellitus is most commonly due to Wolcott Rallison syndrome.
INDIAN JOURNAL OF PEDIATRICS
(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
Endocrinology & Metabolism
Katharina Warncke, Alexander Eckert, Thomas Kapellen, Sebastian Kummer, Klemens Raile, Desiree Dunstheimer, Jurgen Grulich-Henn, Joachim Woelfle, Sandra Wenzel, Sabine E. Hofer, Axel Dost, Reinhard W. Holl
Summary: This study describes the clinical presentation and long-term outcomes of patients with ABCC8/KCNJ11 variants in diabetes. ABCC8/KCNJ11 variants should be suspected in children diagnosed with diabetes, as many patients can switch from insulin to oral antidiabetic drugs. Despite some patients temporarily stopping medication, they are still able to maintain good metabolic control.
PEDIATRIC DIABETES
(2022)
Article
Endocrinology & Metabolism
Ilse Wieland, Ina Schanze, Ina Marianti Felgendreher, Winfried Barthlen, Silke Vogelgesang, Klaus Mohnike, Martin Zenker
Summary: This study found that paternal UPD on the short arm of chromosome 11 is the major second genetic event specifically within focal lesions of CHI, leading to LOH and monoallelic expression of the mutated ABCC8/KCNJ11 alleles. Additionally, upregulation of growth promoting gene ASCL2 and downregulation of growth suppressing genes CDKN1C and H19 were observed.
FRONTIERS IN ENDOCRINOLOGY
(2022)
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
Endocrinology & Metabolism
Mengting Tian, Yi Feng, Yanyan Liu, Hua Wang
Summary: A novel INS gene mutation was found in a Chinese permanent neonatal diabetes mellitus (PNDM) patient. This study explores the clinical and genetic characteristics of the patient and highlights the importance of genetic diagnosis, early use of insulin, close monitoring of blood glucose, and psychological and mutual family support for favorable long-term prognosis in patients with INS mutation.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Can Thi Bich Ngoc, Vu Chi Dung, Elisa De Franco, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Nguyen Huy Hoang, Tran Minh Dien
Summary: This study reports dominant INS gene mutations in Vietnamese cases of NDM and highlights the importance of screening the INS gene in children diagnosed with diabetes in the first year of life.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Pamela Bowman, Frances Mathews, Fabrizio Barbetti, Maggie H. Shepherd, Janine Sanchez, Barbara Piccini, Jacques Beltrand, Lisa R. Letourneau-Freiberg, Michel Polak, Siri Atma W. Greeley, Eamon Rawlins, Tarig Babiker, Nicholas J. Thomas, Elisa De Franco, Sian Ellard, Sarah E. Flanagan, Andrew T. Hattersley
Summary: Treating ABCC8-PNDM patients with sulfonylureas long-term results in excellent glycemic control. Most patients show mild neurological features, which may improve after transfer to sulfonylureas, emphasizing the importance of genetic testing and neurodevelopmental assessment.
Article
Endocrinology & Metabolism
Thomas Hewat, Daphne Yau, Joseph C. S. Jerome, Thomas W. Laver, Jayne A. L. Houghton, Beverley M. Shields, Sarah E. Flanagan, Kashyap A. Patel
Summary: Higher birth weight, diazoxide unresponsiveness, and diagnosis in the first week of life are independently associated with KATP-hyperinsulinism. Birth weight and diazoxide unresponsiveness together are highly discriminatory for identifying KATP-hyperinsulinism. Individuals born appropriate or large for gestation and unresponsive to diazoxide treatment are most likely to have an ABCC8 or KCNJ11 mutation.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
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)
Article
Obstetrics & Gynecology
Mohammad A. A. Bayoumi, Razan M. Masri, Nada Y. S. Matani, Mohamed A. Hendaus, Manal M. Masri, Prem Chandra, Lisa J. Langtree, Sunitha D'Souza, Noimot O. Olayiwola, Saad Shahbal, Einas E. Elmalik, Mohamed S. Bakry, Ashraf Gad, Ravi Agarwal
Summary: The study found that both pre-pregnancy DM and gestational DM have an impact on the growth parameters of newborns, with higher risks of macrosomia among infants born to diabetic mothers. However, there were no significant differences in head circumference, length, and major congenital malformations. Efforts to prevent excessive birth weight should focus on modifiable factors such as pre-pregnancy BMI and maternal age.
BMC PREGNANCY AND CHILDBIRTH
(2021)
Article
Obstetrics & Gynecology
Handan Bezirganoglu, Nilufer Okur, Kiymet Celik, Funda Feryal Tas, Mehmet Nuri Ozbek
Summary: This study aimed to evaluate the clinical characteristics and treatment options for neonates with persistent hyperinsulinemic hypoglycemia (HH). The study found that the risk of hyperinsulinism should be considered in hypoglycemic neonates, especially in regions with high rates of consanguinity. Additionally, the study demonstrated sirolimus as an effective treatment option in avoiding pancreatectomy in severe cases.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Alexandra Panova, Natalia Klementieva, Anna Sycheva, Elena Korobko, Anastasia O. Sosnovtseva, Tatiana S. Krasnova, Maria R. Karpova, Petr M. Rubtsov, Yulia Tikhonovich, Anatoly N. Tiulpakov, Sergey L. Kiselev
Summary: One cause of diabetes in infants is the defect of the insulin gene. Through induced pluripotent stem cells and gene mutation correction, the study revealed abnormal RNA transcripts and differences in organoid formation during pancreatic progenitor differentiation. Additionally, the insulinoma cell line with the mutation showed decreased proliferation capacity and activation of ER stress-related genes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Stuart Cannon, Rhian Clissold, Kittiya Sukcharoen, Marcus Tuke, Gareth Hawkes, Robin N. Beaumont, Andrew R. Wood, Mark Gilchrist, Andrew T. Hattersley, Richard A. Oram, Kashyap Patel, Caroline Wright, Michael N. Weedon
Summary: 17q12 microdeletion and microduplication syndromes are complex disorders with overlapping phenotypes, including diabetes, renal disease, and neurocognitive traits.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Health Care Sciences & Services
Nicholas J. Thomas, Andrew McGovern, Katherine G. Young, Seth A. Sharp, Michael N. Weedon, Andrew T. Hattersley, John Dennis, Angus G. Jones
Summary: This study aimed to compare the performance of different approaches for classifying insulin-treated diabetes without measured classification biomarkers. The results showed that combining early insulin requirement with a T1D probability model and interview-reported diabetes type achieved the highest accuracy.
JOURNAL OF CLINICAL EPIDEMIOLOGY
(2023)
Article
Immunology
Rebecca C. Wyatt, Sven Olek, Elisa De Franco, Bjoern Samans, Kashyap Patel, Jayne Houghton, Steffi Walter, Janika Schulze, Rosa Bacchetta, Andrew T. Hattersley, Sarah E. Flanagan, Matthew B. Johnson
Summary: By studying a large cohort of patients diagnosed with IPEX and using TSDR analysis, it was found that diagnosing IPEX at presentation with isolated diabetes can effectively monitor disease progression and predict the course of the disease. This method can aid in the classification and diagnosis of FOXP3 variants and allow for immune modulatory treatment to be initiated before the onset of severe enteropathy.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Pharmacology & Pharmacy
Naoko Miyagawa, Akira Sekikawa, Katsuyuki Miura, Rhobert W. Evans, Nagako Okuda, Akira Fujiyoshi, Katsushi Yoshita, Queenie Chan, Yukiko Okami, Aya Kadota, Bradley Willcox, Kamal Masaki, Beatriz Rodriguez, Kiyomi Sakata, Hideaki Nakagawa, Shigeyuki Saitoh, Akira Okayama, Lewis H. Kuller, Paul Elliott, Jeremiah Stamler, Hirotsugu Ueshima
Summary: This study examined the association between plasma phospholipid fatty acid levels and dietary intake of fatty acids. The results showed a correlation between intake and circulating fatty acid levels, especially for marine-derived fatty acids. Plasma phospholipid measurements of marine-derived fatty acids can be used as a reliable biomarker for assessing dietary intake.
JOURNAL OF CLINICAL LIPIDOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Beverley M. Shields, Catherine D. Angwin, Maggie H. Shepherd, Nicky Britten, Angus G. Jones, Naveed Sattar, Rury Holman, Ewan R. Pearson, Andrew T. Hattersley
Summary: Patient preference plays a crucial role in medication selection for chronic medical conditions like type 2 diabetes. Balancing potential efficacy and side effects, patient preference can inform treatment decisions based on personal experience with alternative medications. A recent study on type 2 diabetes patients compared three different glucose-lowering drugs and found that allocating therapy based on individual drug preference resulted in better glycemic control and fewer side effects compared to prescribing the overall most preferred drug.
Article
Biochemistry & Molecular Biology
Beverley M. M. Shields, John M. M. Dennis, Catherine D. D. Angwin, Fiona Warren, William E. E. Henley, Andrew J. J. Farmer, Naveed Sattar, Rury R. R. Holman, Angus G. G. Jones, Ewan R. R. Pearson, Andrew T. T. Hattersley
Summary: Precision medicine in type 2 diabetes aims to treat patients based on their clinical characteristics. This study examines the differential drug response in relation to body mass index (BMI) and estimated glomerular filtration rate (eGFR). The findings suggest that in obese patients, thiazolidinediones may be more effective in lowering glucose levels compared to DPP4 inhibitors, while in patients with eGFR of 60-90 ml/min/1.73 m², DPP4 inhibitors may be more effective than SGLT2 inhibitors in lowering glucose levels.
Article
Cell Biology
Maria C. Costanzo, Marcin von Grotthuss, Jeffrey Massung, Dongkeun Jang, Lizz Caulkins, Ryan Koesterer, Clint Gilbert, Ryan P. Welch, Parul Kudtarkar, Quy Hoang, Andrew P. Boughton, Preeti Singh, Ying Sun, Marc Duby, Annie Moriondo, Trang Nguyen, Patrick Smadbeck, Benjamin R. Alexander, MacKenzie Brandes, Mary Carmichael, Peter Dornbos, Todd Green, Kenneth C. Huellas-Bruskiewicz, Yue Ji, Alexandria Kluge, Aoife C. McMahon, Josep M. Mercader, Oliver Ruebenacker, Sebanti Sengupta, Dylan Spalding, Daniel Taliun, Philip Smith, Melissa K. Thomas, Beena Akolkar, M. Julia Brosnan, Andriy Cherkas, Audrey Y. Chu, Eric B. Fauman, Caroline S. Fox, Tania Nayak Kamphaus, Melissa R. Miller, Lynette Nguyen, Afshin Parsa, Dermot F. Reilly, Hartmut Ruetten, David Wholley, Norann A. Zaghloul, Goncalo R. Abecasis, David Altshuler, Thomas M. Keane, Mark I. McCarthy, Kyle J. Gaulton, Jose C. Florez, Michael Boehnke, Noel P. Burtt, Jason Flannick
Summary: This study aims to make the Type 2 Diabetes Knowledge Portal (T2DKP) more accessible and useful to both new and existing users. It evaluates the comprehensiveness of T2DKP by comparing its datasets with other repositories, guides researchers unfamiliar with human genetic data on how to interpret and use the data through T2DKP, and discusses the importance of democratizing access to complex disease genetic results.
Correction
Endocrinology & Metabolism
Katherine G. Young, Andrew P. McGovern, Ines Barroso, Andrew T. Hattersley, Angus G. Jones, Beverley M. Shields, Nicholas J. Thomas, John M. Dennis
Letter
Endocrinology & Metabolism
Katherine G. Young, Andrew P. McGovern, Ines Barroso, Andrew T. Hattersley, Angus G. Jones, Beverley M. Shields, Nicholas J. Thomas, John M. Dennis
Article
Public, Environmental & Occupational Health
Mercedes Aguilar, Paloma Munoz-Aguirre, Adrian Cortes-Valencia, Mario H. Flores-Torres, Andres Catzin-Kuhlmann, Ruy Lopez-Ridaura, Martin Lajous, Beatriz L. Rodriguez, Carlos Cantu-Brito, Edgar Denova-Gutierrez
Summary: This study aimed to determine whether long-term sun exposure has a protective role in subclinical cardiovascular disease in adult Mexican women. The results showed an inverse association between sun exposure and carotid intima-media thickness (IMT) as well as subclinical carotid atherosclerosis. If further studies confirm these findings for other cardiovascular outcomes, sun exposure could be an affordable strategy to lower overall cardiovascular risk.
JOURNAL OF WOMENS HEALTH
(2023)
Article
Genetics & Heredity
Roopa Kanakatti Shankar, Alexandra Carl, Jennifer R. Law, Vaneeta Bamba, Wendy J. Brickman, Siddharth K. Prakash, Tazim Dowlut McElroy, Susan Howell, Iris Gutmark Little, Karen O. Klein, Catherina T. Pinnaro, Kelly Ranallo, Marybel Good, Shanlee M. Davis
Summary: The InsighTS registry is designed to collect and store validated longitudinal clinical data from individuals with Turner syndrome (TS). The registry aims to improve health outcomes for this population and involves multiple stakeholders to ensure its relevance and sustainability. It gathers various clinical data and future plans include patient-centered clinical-translational research projects.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Editorial Material
Medical Laboratory Technology
Andrew T. Hattersley
CLINICAL CHEMISTRY
(2023)
Article
Endocrinology & Metabolism
Victoria H. Bustamante, Despoina M. Galetaki, Tazim Dowlut-McElroy, Roopa Kanakatti Shankar
Summary: This study aimed to investigate the distribution of serum Anti-Mullerian Hormone (AMH) in patients with Turner syndrome (TS) and its correlation with karyotype, spontaneous puberty, and gonadotropins during minipuberty. The results showed a correlation between AMH and karyotype as well as spontaneous puberty, and highlighted the clinical relevance of gonadotropins during minipuberty.
CLINICAL ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Alice E. Hughes, Jayne A. L. Houghton, Benjamin Bunce, Ali J. Chakera, Gill Spyer, Maggie H. Shepherd, Sarah E. Flanagan, Andrew T. Hattersley
Summary: In pregnancies with maternal glucokinase-MODY (GCK-MODY), fetal growth is determined by fetal genotype. A non-invasive prenatal testing of fetal GCK genotype (NIPT-GCK) using cell-free DNA in maternal blood has been developed. This study compared the diagnostic accuracy of NIPT-GCK with ultrasound and assessed the feasibility of using NIPT-GCK for pregnancy management.
Article
Endocrinology & Metabolism
Adem Y. Dawed, Andrea Mari, Andrew Brown, Timothy J. McDonald, Lin Li, Shuaicheng Wang, Mun-Gwan Hong, Sapna Sharma, Neil R. Robertson, Anubha Mahajan, Xuan Wang, Mark Walker, Stephen Gough, Leen M. 't Hart, Kaixin Zhou, Ian Forgie, Hartmut Ruetten, Imre Pavo, Pallav Bhatnagar, Angus G. Jones, Ewan R. Pearson, for the D. I. R. E. C. T. consortium DIRECT consortium
Summary: This study identified genetic variants associated with the response to GLP-1 receptor agonist treatment in patients with type 2 diabetes, which provides valuable insights for clinical decision making and personalized medicine.
LANCET DIABETES & ENDOCRINOLOGY
(2023)