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https://www.readbyqxmd.com/read/29217498/sirolimus-induced-hepatitis-in-two-cases-with-hyperinsulinemic-hypoglycemia
#1
Belma Haliloğlu, Heybet Tüzün, Sarah E Flanagan, Muhittin Çelik, Avni Kaya, Sian Ellard, Mehmet Nuri Özbek
BACKGROUND: Sirolimus has been described for the treatment of the diffuse form of congenital hyperinsulinism (CHI) unresponsive to diazoxide and octreotide without severe side effect. CASE REPORT: Two newborns with CHI due to homozygous ABCC8 gene mutations were started sirolimus due to unresponsive to medical treatment on day 21 and 17, and good response was observed. At follow-up, liver enzyme levels increased at 10 and 2 month of therapy in case 1 and 2, respectively (serum sirolimus level 1...
December 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29184821/approach-to-hypoglycemia-in-infants-and-children
#2
REVIEW
Kajal Gandhi
Hypoglycemia is a heterogeneous disorder with many different possible etiologies, including hyperinsulinism, glycogen storage disorders, fatty acid disorders, hormonal deficiencies, and metabolic defects, among others. This condition affects newborns to adolescents, with various approaches to diagnosis and management. This paper will review current literature on the history of hypoglycemia, current discussion on the definition of hypoglycemia, as well as etiologies, diagnosis, and management.
October 2017: Translational Pediatrics
https://www.readbyqxmd.com/read/29177163/surgical-therapy-of-sporadic-pancreatic-neuroendocrine-neoplasias-g1-g2
#3
REVIEW
Volker Fendrich, Detlef K Bartsch
Background: Pancreatic neuroendocrine neoplasias (pNENs) are uncommon but fascinating tumors with an annual incidence of 1 per 100,000 people. pNENs present either as functional tumors, causing specific hormonal syndromes like Zollinger-Ellison syndrome (ZES) or organic hyperinsulinism, or as non-functional pancreatic tumors (NF-pNENs). The natural history of pNENs is highly variable. 90% of all insulinomas or small NF- pNENs are readily curable by surgical resection. Most other functional and late detected NF-pNENs have a less favorable chance for cure...
October 2017: Visceral Medicine
https://www.readbyqxmd.com/read/29176012/sirolimus-therapy-for-congenital-hyperinsulinism-in-an-infant-with-a-novel-homozygous-kcnj11-mutation
#4
Sophy Korula, Aaron Chapla, Leena Priyambada, Sarah Mathai, Anna Simon
BACKGROUND: Congenital hyperinsulinism results in refractory hypoglycemia. If a therapy with diazoxide has been unresponsive this has been treated by subtotal pancreatectomy in the past. This therapeutic option poses an increased risk of developing diabetes at a later stage. There have been a few case reports on the use of sirolimus in such situations in the recent past. CASE PRESENTATION: Our patient was started on sirolimus very early, on day 29 of life and at the age of 14 months is doing well on sirolimus therapy...
November 27, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29151084/formal-neurocognitive-testing-in-60-patients-with-congenital-hyperinsulinism
#5
Anja Ludwig, Simone Enke, Janine Heindorf, Susann Empting, Thomas Meissner, Klaus Mohnike
BACKGROUND: Congenital hyperinsulinism (CHI) is hallmarked by persistent hypoketotic hypoglycemia in infancy. In the majority of all patients, CHI is caused by mutations in the KATP channel genes ABCC8 and KCNJ11, but other genes in the insulin-regulatory pathway have also been described. Repeated episodes of hypoglycemia include an increased risk of seizures and intellectual disability. So far, controlled psychometric studies on cognitive, motor, speech, and social-emotional outcome of CHI patients are missing...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29148123/donohue-syndrome-a-review-of-literature-case-series-and-anesthetic-considerations
#6
REVIEW
Alana Kirkwood, Grant Stuart, Louise Harding
BACKGROUND: Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. An accelerated fasting state results in muscle wasting, decreased subcutaneous fat, and an excess of thick skin. A reduced thoracic diameter is accentuated by increased abdominal distension, which impacts on respiratory reserve...
November 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29133209/genome-wide-sequencing-expands-the-phenotypic-spectrum-of-ep300-variants
#7
Gregory Costain, Peter Kannu, Sarah Bowdin
Many disease genes are defined by their role in causing specific clinically recognizable syndromes. Heterozygous loss of function of the gene EP300 is responsible for a minority of cases of Rubinstein-Taybi syndrome (RSTS). With the application of whole-exome sequencing and whole-genome sequencing, there is the potential to discover new genotype-phenotype correlations. The purpose of this case series is to describe three unrelated females without classic manifestations of RSTS who were unexpectedly found on genome-wide sequencing to have likely pathogenic variants in EP300...
November 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29131920/congenital-hyperinsulinism
#8
Elena Minakova, Alison Chu
Congenital hyperinsulinism is a rare disorder that commonly presents in the immediate postnatal period as persistent hypoglycemia. The condition is frequently resistant to medical therapies, and the genetic mutations implicated in the disorder can be predictive of response to therapy. Evaluation of hypoglycemia in the illustrative case presented in this article led to genetic testing identifying recessive mutations in the potassium channel subunits of the beta-islet pancreatic cells. Potassium channel defects are often refractory to medical therapies, so near-total pancreatectomy is usually indicated; however, genetic mutations leading to metabolic dysregulation within the beta-islet pancreatic cells are usually responsive to medical therapy...
November 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/29127764/could-a-combination-of-heterozygous-abcc8-and-kcnj11-mutations-cause-congenital-hyperinsulinism
#9
Klara Rozenkova, Azizun Nessa, Barbora Obermannova, Lenka Elblova, Petra Dusatkova, Zdenek Sumnik, Jan Lebl, Khalid Hussain, Stepanka Pruhova
BACKGROUND: Congenital hyperinsulinism (CHI) is frequently caused by mutations in one of the KATP channel subunits encoded by the genes ABCC8 and KCNJ11. The effect of simultaneous mutations in both of these genes on the pancreatic β-cell function is not known and patients with CHI carrying both ABCC8 and KCNJ11 mutations have not yet been reported. We questioned if a combination of heterozygous mutations in the ABCC8 and KCNJ11 genes could also lead to β-cell dysfunction presenting as CHI...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29117181/pancreatic-uptake-and-radiation-dosimetry-of-6-18f-fluoro-l-dopa-from-pet-imaging-studies-in-infants-with-congenital-hyperinsulinism
#10
Pradeep K Garg, Stephen J Lokitz, Lisa Truong, Burton Putegnat, Courtney Reynolds, Larry Rodriguez, Rachid Nazih, Jonathan Nedrelow, Miguel de la Guardia, John K Uffman, Sudha Garg, Paul S Thornton
METHODS: After injecting 25.6 ± 8.8 MBq (0.7 ± 0.2 mCi) of 18F-Fluoro-L-DOPA intravenously, three static PET scans were acquired at 20, 30, and 40 min post injection in 3-D mode on 10 patients (6 male, 4 female) with congenital hyperinsulinism. Regions of interest (ROIs) were drawn over several organs visible in the reconstructed PET/CT images and time activity curves (TACs) were generated. Residence times were calculated using the TAC data. The radiation absorbed dose for the whole body was calculated by entering the residence times in the OLINDA/EXM 1...
2017: PloS One
https://www.readbyqxmd.com/read/29116340/18f-dopa-pet-ct-and-68ga-dotanoc-pet-ct-scans-as-diagnostic-tools-in-focal-congenital-hyperinsulinism-a-blinded-evaluation
#11
Charlotte Dahl Christiansen, Henrik Petersen, Anne Lerberg Nielsen, Sönke Detlefsen, Klaus Brusgaard, Lars Rasmussen, Maria Melikyan, Klas Ekström, Evgenia Globa, Annett Helleskov Rasmussen, Claus Hovendal, Henrik Thybo Christesen
PURPOSE: Focal congenital hyperinsulinism (CHI) is curable by surgery, which is why identification of the focal lesion is crucial. We aimed to determine the use of 18F-fluoro-dihydroxyphenylalanine (18F-DOPA) PET/CT vs. 68Ga-1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic-acid-1-Nal3-octreotide (68Ga-DOTANOC) PET/CT as diagnostic tools in focal CHI. METHODS: PET/CT scans of children with CHI admitted to Odense University Hospital between August 2005 and June 2016 were retrospectively evaluated visually and by their maximal standardized uptake values (SUVmax) by two independent examiners, blinded for clinical, surgical and pathological data...
November 8, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29115953/laparoscopic-sleeve-gastrectomy-improves-body-composition-and-alleviates-insulin-resistance-in-obesity-related-acanthosis-nigricans
#12
Yi Zhang, Cuiling Zhu, Xin Wen, Xingchun Wang, Liang Li, Sharvan Rampersad, Liesheng Lu, Donglei Zhou, Chunhua Qian, Ran Cui, Manna Zhang, Peng Yang, Shen Qu, Le Bu
BACKGROUND: Acanthosis nigricans (AN) has a close relationship with obesity. It is believed that obesity and AN have the common pathophysiological basis such as hyperinsulinism. This study is aimed to observe the effect of laparoscopic sleeve gastrectomy (LSG) on body composition and insulin resistance in Chinese obese patients with acanthosis nigricans. METHODS: A total of 37 obese patients who underwent LSG in our hospital were selected for analysis. They were divided into simple obesity (OB n = 14) and obesity with acanthosis nigricans (AN n = 23) group respectively...
November 7, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29112933/hyperinsulinemia-induced-pax6-expression-promotes-endometrial-epithelial-cell-proliferation-via-negatively-modulating-p27-signaling
#13
Xue-Rong Zheng, Xia Pan, Jin Zhang, Xin Cao
Polycystic ovarian syndrome (PCOS) is thought to involve hyperinsulinism (insulin resistance, IR) and high prevalence of endometrial epithelial hyperplasia, but how these two pathologies are synergistically regulated in endometrial epithelial cells remains largely unknown. Here, we report a key role for the transcription factor PAX6 in the modulation of PCOS-induced endometrial epithelial proliferation. PAX6 was significantly induced in the endometrial tissues from PCOS patients, and this induction, regulated upstream by high levels of insulin, was closely correlated to the pathogenesis of IR in endometrial epithelial cells...
November 4, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29106832/-diabetes-mellitus-a-prothrombotic-disease
#14
F Picard, J Adjedj, O Varenne
In patients with acute atherothrombotic disease, diabetes or glucose intolerance is frequently found. Indeed, the number of people with diabetes in the world continues to increase and is expected to reach more than 500 million people by 2035. Diabetes is a pathology commonly associated with both microvascular and macrovascular complications. Although the mortality of coronary artery disease has decreased significantly over the past 20 years, mortality in patients with type 2 diabetes has changed little and atherothrombotic events remain the leading cause of death in diabetic patients...
October 26, 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/29077992/population-pharmacokinetics-of-exendin-9-39-and-clinical-dose-selection-in-patients-with-congenital-hyperinsulinism
#15
Chee M Ng, Fei Tang, Steven Seeholzer, Yixuan Zou, Diva D De León
AIMS: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycaemia in infants and children. Exendin-(9-39), an inverse glucagon-like peptide 1 (GLP-1) agonist, is a novel therapeutic agent for HI that has demonstrated glucose-raising effect. We reported the first population pharmacokinetic (PopPK) model of the exendin-(9-39) in patients with HI and proposed the optimal dosing regimen for future clinical trials in neonates with HI. METHODS: 182 pharmacokinetic (PK) observations from 26 subjects in three clinical studies were included for constructing the PopPK model using FOCE with interaction method in NONMEM...
October 27, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29072450/ebselen-mechanisms-of-glutamate-dehydrogenase-and-glutaminase-enzyme-inhibition
#16
Yan Yu, Yanhong Jin, Jie Zhou, Haoqiang Ruan, Han Zhao, Shiying Lu, Yue Zhang, Di Li, Xiaoyun Ji, Benfang Helen Ruan
Ebselen modulates target proteins through redox reactions with selenocysteine/cysteine residues, or through binding to the zinc finger domains. However, a recent contradiction in ebselen inhibition of kidney type glutaminase (KGA) stimulated our interest in investigating its inhibition mechanism with glutamate dehydrogenase (GDH), KGA, thioredoxin reductase (TrxR), and glutathione S-transferase. Fluorescein- or biotin-labeled ebselen derivatives were synthesized for mechanistic analyses. Biomolecular interaction analyses showed that only GDH, KGA, and TrxR proteins can bind to the ebselen derivative, and the binding to GDH and KGA could be competed off by glutamine or glutamate...
November 7, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/29058186/methods-for-characterizing-disease-associated-atp-sensitive-potassium-channel-mutations
#17
Balamurugan Kandasamy, Show-Ling Shyng
The ATP-sensitive potassium (KATP) channel formed by the inwardly rectifying potassium channel Kir6.2 and the sulfonylurea receptor 1 (SUR1) plays a key role in regulating insulin secretion. Genetic mutations in KCNJ11 or ABCC8 which encode Kir6.2 and SUR1 respectively are major causes of insulin secretion disorders: those causing loss of channel function lead to congenital hyperinsulinism, whereas those causing gain of channel function result in neonatal diabetes and in some cases developmental delay, epilepsy, and neonatal diabetes, referred to as the DEND syndrome...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29044608/nutrient-sensing-in-pancreatic-islets-lessons-from-congenital-hyperinsulinism-and-monogenic-diabetes
#18
REVIEW
Ming Lu, Changhong Li
Pancreatic beta cells sense changes in nutrients during the cycles of fasting and feeding and release insulin accordingly to maintain glucose homeostasis. Abnormal beta cell nutrient sensing resulting from gene mutations leads to hypoglycemia or diabetes. Glucokinase (GCK) plays a key role in beta cell glucose sensing. As one form of congenital hyperinsulinism (CHI), activating mutations of GCK result in a decreased threshold for glucose-stimulated insulin secretion and hypoglycemia. In contrast, inactivating mutations of GCK result in diabetes, including a mild form (MODY2) and a severe form (permanent neonatal diabetes mellitus (PNDM))...
October 16, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29034901/generation-of-a-kcnj11-homozygous-knockout-human-embryonic-stem-cell-line-wae001-a-12-using-crispr-cas9
#19
Fang Yuan, Dongsheng Guo, Ge Gao, Yanli Liu, Yingying Xu, Yuhang Wu, Fan Yang, Xinrong Ke, Keyu Lai, Liangqing Hong, Yin-Xiong Li
The ATP-sensitive potassium channel is an octameric complex, and one of its subunits, namely Kir6.2, is encoded by the KCNJ11 gene. Mutations in KCNJ11 result in hyperinsulinism or diabetes mellitus, associated with abnormal insulin secretion. Here, using CRISPR/Cas9 editing, we established a homozygous mutant KCNJ11 cell line, WAe001-A-12, which was generated by a 62-bp deletion in the coding sequence of the human embryonic stem cell line H1. It was confirmed that this deletion in the KCNJ11 gene did not affect the protein expression levels of key pluripotent factors...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29025242/the-diagnosis-and-management-of-congenital-and-adult-onset-hyperinsulinism-nesidioblastosis-literature-review
#20
Adam M Kowalewski, Łukasz Szylberg, Anna Kasperska, Andrzej Marszałek
Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological examination is necessary for a definitive diagnosis. CHI is a disorder with three histopathological variants: focal CHI, diffuse CHI, and atypical CHI. These variants are clinically indistinguishable. According to published statistics, 0.5 to 5% of nesidioblastosis cases occur in adults...
2017: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
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