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https://www.readbyqxmd.com/read/29296625/molecular-therapy-of-melanocortin-4-receptor-obesity-by-an-autoregulatory-bdnf-vector
#1
Jason J Siu, Nicholas J Queen, Xianglan Liu, Wei Huang, Travis McMurphy, Lei Cao
Mutations in the melanocortin-4-receptor (MC4R) comprise the most common monogenic form of severe early-onset obesity, and conventional treatments are either ineffective long-term or contraindicated. Immediately downstream of MC4R-in the pathway for regulating energy balance-is brain-derived neurotrophic factor (BDNF). Our previous studies show that adeno-associated virus (AAV)-mediated hypothalamic BDNF gene transfer alleviates obesity and diabetes in both diet-induced and genetic models. To facilitate clinical translation, we developed a built-in autoregulatory system to control therapeutic gene expression mimicking the body's natural feedback systems...
December 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29241729/long-term-follow-up-of-ipex-syndrome-patients-after-different-therapeutic-strategies-an-international-multicenter-retrospective-study
#2
Federica Barzaghi, Laura Cristina Amaya Hernandez, Benedicte Neven, Silvia Ricci, Zeynep Yesim Kucuk, Jack Bleesing, Zohreh Nademi, Mary Anne Slatter, Erlinda Rose Ulloa, Anna Shcherbina, Anna Roppelt, Austen Worth, Juliana Silva, Alessandro Aiuti, Luis Murguia-Favela, Carsten Speckmann, Magda Carneiro-Sampaio, Juliana Folloni Fernandes, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Ayca Kiykim, Ansgar Schulz, Sandra Steinmann, Lucia Dora Notarangelo, Eleonora Gambineri, Paolo Lionetti, William Thomas Shearer, Lisa Forbes, Caridad Martinez, Despina Moshous, Stephane Blanche, Alain Fisher, Frank M Ruemmele, Come Tissandier, M Ouachee-Chardin, Frédéric Rieux-Laucat, Marina Cavazzana, Waseem Qasim, Barbarella Lucarelli, Michael H Albert, Ichiro Kobayashi, Laura Alonso, Cristina Diaz De Heredia, Hirokazu Kanegane, Anita Lawitschka, Jong Jin Seo, Marta Gonzalez-Vicent, Miguel Angel Diaz, Rakesh Kumar Goyal, Martin G Sauer, Akif Yesilipek, Minsoo Kim, Yesim Yilmaz-Demirdag, Monica Bhatia, Julie Khlevner, Erick J Richmond Padilla, Silvana Martino, Davide Montin, Olaf Neth, Agueda Molinos-Quintana, Justo Valverde-Fernandez, Arnon Broides, Vered Pinsk, Antje Ballauf, Filomeen Haerynck, Victoria Bordon, Catharina Dhooge, Maria Laura Garcia-Lloret, Robbert G Bredius, Krzysztof Kałwak, Elie Haddad, Markus Gerhard Seidel, Gregor Duckers, Sung-Yun Pai, Christopher C Dvorak, Stephan Ehl, Franco Locatelli, Frederick Goldman, Andrew Richard Gennery, Mort J Cowan, Maria Grazia Roncarolo, Rosa Bacchetta
BACKGROUND: Immunedysregulation Polyendocrinopathy Enteropathy X-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. OBJECTIVE: To evaluate disease onset, progression and long-term outcome of the two main treatments in long-term IPEX survivors...
December 11, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29229652/protocol-for-the-specialist-supervised-individualised-multifactorial-treatment-of-new-clinically-diagnosed-type-2-diabetes-in-general-practice-ida-a-prospective-controlled-multicentre-open-label-intervention-study
#3
Jacob Volmer Stidsen, Jens Steen Nielsen, Jan Erik Henriksen, Søren Gunnar Friborg, Reimar Wernich Thomsen, Thomas Bastholm Olesen, Michael Hecht Olsen, Henning Beck-Nielsen
INTRODUCTION: We present the protocol for a multifactorial intervention study designed to test whether individualised treatment, based on pathophysiological phenotyping and individualised treatment goals, improves type 2 diabetes (T2D) outcomes. METHODS AND ANALYSIS: We will conduct a prospective controlled multicentre open-label intervention study, drawing on the longitudinal cohort of the Danish Centre for Strategic Research in Type 2 Diabetes (DD2). New clinically diagnosed patients with T2D in the intervention group will be assigned to receive individualised treatment by their general practitioner...
December 10, 2017: BMJ Open
https://www.readbyqxmd.com/read/29216354/high-prevalence-of-rare-monogenic-forms-of-obesity-in-obese-guadeloupean-afro-caribbean-children
#4
Lydia Foucan, Laurent Larifla, Emmanuelle Durand, Christine Rambhojan, Christophe Armand, Carl-Thony Michel, Rachel Billy, Véronique Dhennin, Franck De Graeve, Iandry Rabearivelo, Olivier Sand, Jean-Marc Lacorte, Philippe Froguel, Amélie Bonnefond
Context: The population from Guadeloupe Island exhibits high prevalence of obesity. Objective: We aimed to investigate whether rare genetic mutations in genes involved in monogenic obesity (or diabetes) might be causal in this population of Afro-Caribbean ancestry. Design and setting: This was a secondary analysis of a study on obesity conducted in schoolchildren from Guadeloupe in 2013, which aimed to assess the changes in children profiles after a lifestyle intervention program...
December 5, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29207974/spectrum-of-mutations-in-monogenic-diabetes-genes-identified-from-high-throughput-dna-sequencing-of-6888-individuals
#5
Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric J Topol, Thomas Seufferlein, Bernhard O Boehm
BACKGROUND: Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1-2% of all cases of diabetes. However, phenotypic heterogeneity and lack of family history of diabetes can limit the diagnosis of monogenic forms of diabetes. Next-generation sequencing technologies provide an excellent opportunity to screen large numbers of individuals with a diagnosis of diabetes for mutations in disease-associated genes...
December 6, 2017: BMC Medicine
https://www.readbyqxmd.com/read/29205704/hypoglycemia-in-sulfonylurea-treated-kcnj11-neonatal-diabetes-mild-moderate-symptomatic-episodes-occur-infrequently-but-none-involving-unconsciousness-or-seizures
#6
Monica S Lanning, David Carmody, Łukasz Szczerbiński, Lisa R Letourneau, Rochelle N Naylor, Siri Atma W Greeley
BACKGROUND: Neonatal diabetes mellitus (NDM) caused by mutations in KCNJ11 can be successfully treated with high dose oral sulfonylureas; however, little data is available on the risk of hypoglycemia. OBJECTIVE: To determine the frequency, severity, and clinical significance of hypoglycemia in KCNJ11-related NDM. METHODS: Utilizing the University of Chicago Monogenic Diabetes Registry, parents completed an online questionnaire addressing hypoglycemia...
December 5, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/29204299/diabetes-mellitus-secondary-to-acute-pancreatitis-in-a-child-with-wolf-hirschhorn-syndrome
#7
Asma Deeb
Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disease caused by deletion in the short arm of chromosome 4. It is characterized by typical fascial features and a varying degree of intellectual disabilities and multiple systemic involvement. Epidemiological studies confirmed the association of acute pancreatitis with the development of diabetes. However, this association has not been reported in WHS. We report an 18-year-old girl with WHS who presented acutely with nonketotic Hyperglycemic Hyperosmolar Status (HHS) in association with severe acute pancreatitis...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29183916/ceruloplasmin-replacement-therapy-ameliorates-neurological-symptoms-in-a-preclinical-model-of%C3%A2-aceruloplasminemia
#8
Alan Zanardi, Antonio Conti, Marco Cremonesi, Patrizia D'Adamo, Enrica Gilberti, Pietro Apostoli, Carlo Vittorio Cannistraci, Alberto Piperno, Samuel David, Massimo Alessio
Aceruloplasminemia is a monogenic disease caused by mutations in the ceruloplasmin gene that result in loss of protein ferroxidase activity. Ceruloplasmin plays a role in iron homeostasis, and its activity impairment leads to iron accumulation in liver, pancreas, and brain. Iron deposition promotes diabetes, retinal degeneration, and progressive neurodegeneration. Current therapies mainly based on iron chelation, partially control systemic iron deposition but are ineffective on neurodegeneration. We investigated the potential of ceruloplasmin replacement therapy in reducing the neurological pathology in the ceruloplasmin-knockout (CpKO) mouse model of aceruloplasminemia...
November 28, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29183106/monogenic-diabetes-not-caused-by-mutations-in-mody-genes-a-very-heterogenous-group-of-diabetes
#9
Zeynep Şıklar, Elisa de Franco, Matthew B Johnson, Sarah E Flanagan, Sian Ellard, Serdar Ceylaner, Kaan Boztuğ, Figen Doğu, Aydan İkincioğulları, Zarife Kuloğlu, Aydan Kansu, Merih Berberoğlu
Monogenic diabetes represents a heterogeneous group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes into neonatal diabetes or maturity onset diabetes of the young (MODY) according to age of onset, not every case can be classified into those 2 groups. We evaluated patients with monogenic diabetes diagnosed during the last 10 year period. Type 1 DM, MODY, and patients with negative autoantibodies and no mutation in a known gene were excluded from the study...
November 28, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/29182332/quantitative-evaluation-of-serum-proteins-uncovers-a-protein-signature-related-with-maturity-onset-diabetes-of-the-young-mody
#10
Muhadasi Tuerxunyiming, Feng Xian, Jin Zi, Yilihamujiang Yimamu, Reshalaiti Abuduwayite, Yan Ren, Qidan Li, Abulizi Abudula, SiQi Liu, Patamu Mohemaiti
Maturity-onset diabetes of the young (MODY) is an inherited monogenic type of diabetes. Genetic mutations in MODY often cause nonsynonymous changes that directly lead to the functional distortion of proteins and the pathological consequences. Herein, we proposed that the inherited mutations found in a MODY family could cause a disturbance of protein abundance, specifically in serum. The serum samples were collected from a Uyghur MODY family through three generations, and the serum proteins after depletion treatment were examined by quantitative proteomics to characterize the MODY-related serum proteins followed by verification using target quantification of proteomics...
November 28, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/29174219/familial-diabetes-of-adulthood-a-bin-of-ignorance-that-needs-to-be-addressed
#11
S Prudente, O Ludovico, V Trischitta
AIMS: The aim of this article was to share with a wide readership some data and related reasoning about a multigenerational form of diabetes mellitus of adulthood. DATA SYNTHESIS: We have recently described a familial form of diabetes mellitus, which in the routine clinical setting of adult individuals is simplistically diagnosed as type 2 diabetes. Such misdiagnosis involves as much as 3% of adult unrelated diabetic patients with no evidence of autoimmune disease...
October 26, 2017: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/29163993/21-year-old-pregnant-woman-with-mody-5-diabetes
#12
Anastasia Mikuscheva, Elliot McKenzie, Adel Mekhail
The term "Maturity-Onset Diabetes of the Young" (MODY) was first described in 1976 and is currently referred to as monogenic diabetes. There are 14 known entities accounting for 1-2% of diabetes and they are frequently misdiagnosed as either type 1 or type 2 diabetes. MODY-5 is an entity of monogenic diabetes that is associated with genitourinary malformations and should be considered by obstetricians in pregnant women with a screen positive for diabetes, genitourinary malformations, and fetal renal anomalies...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29141982/a-partial-loss-of-function-variant-in-akt2-is-associated-with-reduced-insulin-mediated-glucose-uptake-in-multiple-insulin-sensitive-tissues-a-genotype-based-callback-positron-emission-tomography-study
#13
Aino Latva-Rasku, Miikka-Juhani Honka, Alena Stančáková, Heikki A Koistinen, Johanna Kuusisto, Li Guan, Alisa K Manning, Heather Stringham, Anna L Gloyn, Cecilia M Lindgren, Francis S Collins, Karen L Mohlke, Laura J Scott, Tomi Karjalainen, Lauri Nummenmaa, Michael Boehnke, Pirjo Nuutila, Markku Laakso
Rare fully penetrant mutations in AKT2 are an established cause of monogenic disorders of glucose metabolism. Recently, a novel partial loss-of-function AKT2 coding variant (p.Pro50Thr) was identified that is nearly specific to Finns (frequency 1.1%), with the low-frequency allele associated with an increase in fasting plasma insulin level and risk of type 2 diabetes. The effects of p.Pro50Thr on insulin-stimulated glucose uptake (GU) in the whole body and in different tissues have not previously been investigated...
November 15, 2017: Diabetes
https://www.readbyqxmd.com/read/29120028/precision-medicine-for-monogenic-diabetes-from-a-survey-to-the-development-of-a-next-generation-diagnostic-panel
#14
Sakina Kherra, Jean-Louis Blouin, Federico Santoni, Valerie Schwitzgebel
Monogenic diabetes (MD) accounts for 1-2% of all diabetes cases. Because of its wide phenotypic spectrum, MD is often misdiagnosed as type 1 or type 2 diabetes. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a survey among clinicians specialising in diabetes to document the cases with MD. Of 74 clinically suspected MD patients, 46% had undergone genetic analysis, which was mostly conducted using Sanger's classical sequencing method. The most common recorded mutations were located in the GCK gene, followed by the mitochondrial genome (m...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29112131/juvenile-onset-diabetes-and-congenital-cataract-double-gene-mutations-mimicking-a-syndromic-diabetes-presentation
#15
Caroline Lenfant, Patrick Baz, Anne Degavre, Anne Philippi, Valérie Senée, Claire Vandiedonck, Céline Derbois, Marc Nicolino, Pierre Zalloua, Cécile Julier
Monogenic forms of diabetes may account for 1-5% of all cases of diabetes, and may occur in the context of syndromic presentations. We investigated the case of a girl affected by insulin-dependent diabetes, diagnosed at 6 years old, associated with congenital cataract. Her consanguineous parents and her four other siblings did not have diabetes or cataract, suggesting a recessive syndrome. Using whole exome sequencing of the affected proband, we identified a heterozygous p.R825Q ABCC8 mutation, located at the exact same amino-acid position as the p...
November 7, 2017: Genes
https://www.readbyqxmd.com/read/29107594/genes-associated-with-pancreas-development-and-function-maintain-open-chromatin-in-ipscs-generated-from-human-pancreatic-beta-cells
#16
Matthias Thurner, Liraz Shenhav, Agata Wesolowska-Andersen, Amanda J Bennett, Amy Barrett, Anna L Gloyn, Mark I McCarthy, Nicola L Beer, Shimon Efrat
Current in vitro islet differentiation protocols suffer from heterogeneity and low efficiency. Induced pluripotent stem cells (iPSCs) derived from pancreatic beta cells (BiPSCs) preferentially differentiate toward endocrine pancreas-like cells versus those from fibroblasts (FiPSCs). We interrogated genome-wide open chromatin in BiPSCs and FiPSCs via ATAC-seq and identified ∼8.3k significant, differential open chromatin sites (DOCS) between the two iPSC subtypes (false discovery rate [FDR] < 0.05). DOCS where chromatin was more accessible in BiPSCs (Bi-DOCS) were significantly enriched for known regulators of endodermal development, including bivalent and weak enhancers, and FOXA2 binding sites (FDR < 0...
November 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29099273/dna-methylation-profiles-in-sibling-pairs-discordant-for-intrauterine-exposure-to-maternal-gestational-diabetes
#17
Eunae Kim, Soo Heon Kwak, Hye Rim Chung, Jung Hun Ohn, Jae Hyun Bae, Sung Hee Choi, Kyong Soo Park, Joon-Seok Hong, Joohon Sung, Hak Chul Jang
Intrauterine exposure to hyperglycemia is reported to confer increased metabolic risk in later life, supporting the 'developmental origins of health and disease' hypothesis. Epigenetic alterations are suggested as one of the possible underlying mechanisms. In this study, we compared pairwise DNA methylation differences between siblings whose intrauterine exposure to maternal gestational diabetes (GDM) were discordant. Methylation of peripheral blood DNA of 18 sibling pairs was measured using Infinium HumanMethylation450 BeadChip assays...
November 3, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/29059180/diverse-type-2-diabetes-genetic-risk-factors-functionally-converge-in-a-phenotype-focused-gene-network
#18
Cynthia Sandor, Nicola L Beer, Caleb Webber
Type 2 Diabetes (T2D) constitutes a global health burden. Efforts to uncover predisposing genetic variation have been considerable, yet detailed knowledge of the underlying pathogenesis remains poor. Here, we constructed a T2D phenotypic-linkage network (T2D-PLN), by integrating diverse gene functional information that highlight genes, which when disrupted in mice, elicit similar T2D-relevant phenotypes. Sensitising the network to T2D-relevant phenotypes enabled significant functional convergence to be detected between genes implicated in monogenic or syndromic diabetes and genes lying within genomic regions associated with T2D common risk...
October 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/29056535/analysis-of-the-gck-gene-in-79-mody-type-2-patients-a-multicenter-turkish-study-mutation-profile-and-description-of-twenty-novel-mutations
#19
Ayça Aykut, Emin Karaca, Hüseyin Onay, Damla Gökşen, Şevki Çetinkalp, Erdal Eren, Betül Ersoy, Esra Papatya Çakır, Muammer Büyükinan, Cengiz Kara, Ahmet Anık, Birgül Kırel, Samim Özen, Tahir Atik, Şükran Darcan, Ferda Özkınay
Maturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in many patients. Maturity onset diabetes type 2 [MODY2 (#125851)] caused by mutations in the glucokinase gene (GCK). Although its prevalence is not clear, it is estimated that 1%-2% of patients with diabetes have the monogenic form. The aim of this study was to evaluate the molecular spectrum of GCK gene mutations in 177 Turkish MODY type 2 patients...
October 19, 2017: Gene
https://www.readbyqxmd.com/read/29044799/insulin-secretory-defect-in-familial-partial-lipodystrophy-type-2-and-successful-long-term-treatment-with-a-glucagon-like-peptide-1-receptor-agonist
#20
F Banning, M Rottenkolber, I Freibothe, J Seissler, A Lechner
BACKGROUND: Familial partial lipodystrophies are rare monogenic disorders that are often associated with diabetes. In such cases, it can be difficult to achieve glycaemic control. CASE REPORT: We report a 34-year old woman with familial partial lipodystrophy type 2 (Dunnigan) and diabetes; her hyperglycaemia persisted despite metformin treatment. A combined intravenous glucose tolerance-euglycaemic clamp test showed severe insulin resistance, as expected, but also showed strongly diminished first-phase insulin secretion...
October 17, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
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