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https://www.readbyqxmd.com/read/28194805/fetal-adaptations-in-insulin-secretion-result-from-high-catecholamines-during-placental-insufficiency
#1
Sean W Limesand, Paul J Rozance
Placental insufficiency and intrauterine growth restriction (IUGR) of the fetus affects approximately 8% of all pregnancies and is associated with short- and long-term disturbances in metabolism. In pregnant sheep, experimental models with a small, defective placenta that restricts delivery of nutrients and oxygen to the fetus result in IUGR. Low blood oxygen concentrations increase fetal plasma catecholamine concentrations, which lower fetal insulin concentrations. All of these observations in sheep models with placental insufficiency are consistent with cases of human IUGR...
February 14, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28165182/a-severe-case-of-hyperinsulinism-due-to-hemizygous-activating-mutation-of-glutamate-dehydrogenase
#2
Mary Barrosse-Antle, Chang Su, Pan Chen, Kara E Boodhansingh, Thomas J Smith, Charles A Stanley, Diva D De León, Changhong Li
Activating mutations in the GLUD1 gene, which encodes glutamate dehydrogenase (GDH), result in the hyperinsulinism-hyperammonemia syndrome. GDH is an allosterically regulated enzyme responsible for amino acid-mediated insulin secretion via the oxidative deamination of glutamate to 2-oxoglutarate, leading to ATP production and insulin release. This study characterizes a novel combination of mutations in GLUD1 found in a neonate who presented on the first day of life with severe hypoglycemia, hyperammonemia, and seizures...
February 6, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28164885/a-study-of-the-association-of-acanthosis-nigricans-with-subclinical-atherosclerosis
#3
Elizabeth Guevara-Gutiérrez, Alberto Tlacuilo-Parra, Pedro Gutiérrez-Fajardo, Tania Sánchez-Tenorio, Fernando Barba-Gómez, Alejandra Miranda-Díaz
BACKGROUND: Hyperinsulinism is related to the presence of acanthosis nigricans and atherosclerosis; however, we were unable to find any study on the prevalence of atherosclerosis in acanthosis nigricans. AIMS: To evaluate the prevalence of carotid atherosclerosis and metabolic alterations in Mexican patients with acanthosis nigricans. METHODS: We carried out a cross-sectional study that included 45 patients with acanthosis nigricans, age- and gender-matched with 45 healthy participants...
March 2017: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/28164075/the-impact-of-obesity-on-hyperandrogenemia-in-korean-girls
#4
Min Jae Kang, Seung Yang, Il Tae Hwang
PURPOSE: As metabolic complication and polycystic ovarian syndrome due to childhood obesity is rising, the role of hyperandrogenemia (HA) and hyperinsulinism is receiving attention. The aims of this study were to investigate the presence of obvious HA according to pubertal status and to find potential etiologic determinants of HA in Korean obese (OB) girls. METHODS: We analyzed 91 girls aged 6-17 years (prepuberty, n=54; puberty, n=37). Each girl was classified as being either normal weight (NW) or OB...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28163940/asymptomatic-congenital-hyperinsulinism-due-to-a-glucokinase-activating-mutation-treated-as-adrenal-insufficiency-for-twelve-years
#5
Kae Morishita, Chika Kyo, Takako Yonemoto, Rieko Kosugi, Tatsuo Ogawa, Tatsuhide Inoue
Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was diagnosed with CHI. Heterozygosity of exon 6 c.590T>C (p.M197T) was identified in a gene analysis of GCK, which was also detected in her son and herself...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28123437/a-case-series-congenital-hyperinsulinism
#6
Mohammad Reza Alaei, Susan Akbaroghli, Mohammad Keramatipour, Ali Alaei
INTRODUCTION: Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease...
October 2016: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28026098/risk-factors-for-preeclampsia-in-infertile-chinese-women-with-polycystic-ovary-syndrome-a-prospective-cohort-study
#7
Hexia Xia, Ruixiu Zhang, Xiaoli Sun, Lu Wang, Wei Zhang
To explore preconception risk factors for preeclampsia (PE) in women with polycystic ovary syndrome (PCOS), a prospective cohort study was conducted in 92 infertile Chinese women with PCOS who had a singleton pregnancy by ovulation induction and were followed up for 6 weeks after delivery. The patients underwent assessment of physical, endocrine, and metabolic features before ovulation induction. Fifteen (16.3%) patients were diagnosed with PE. Logistic regression analysis showed that preconception sex hormone-binding globulin (SHBG), insulin level at 120 minutes, and body mass index were three independent risk factors for PE (odds ratio [OR], 0...
December 27, 2016: Journal of Clinical Hypertension
https://www.readbyqxmd.com/read/28025655/targets-and-probes-for-non-invasive-imaging-of-%C3%AE-cells
#8
REVIEW
Andreas Jodal, Roger Schibli, Martin Béhé
β-cells, located in the islets of the pancreas, are responsible for production and secretion of insulin and play a crucial role in blood sugar regulation. Pathologic β-cells often cause serious medical conditions affecting blood glucose level, which severely impact life quality and are life-threatening if untreated. With 347 million patients, diabetes is one of the most prevalent diseases, and will continue to be one of the largest socioeconomic challenges in the future. The diagnosis still relies mainly on indirect methods like blood sugar measurements...
December 26, 2016: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28018462/a-novel-mutation-of-abcc8-gene-in-a-patient-with-diazoxide-unresponsive-congenital-hyperinsulinism
#9
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park
Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of the ABCC8 or KCNJ11 genes, which encode the sulfonylurea receptor 1 and the inward rectifying potassium channel (Kir6.2) subunit of the ATP-sensitive potassium channel, respectively...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27971713/burden-of-congenital-hyperinsulinism-in-the-united-kingdom-a-cost-of-illness-study
#10
S Eljamel, J S Evans, A Griffiths, I Banerjee, K Hussain, R S Thompson
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27967291/novel-hypoglycemia-phenotype-in-congenital-hyperinsulinism-due-to-dominant-mutations-of-uncoupling-protein-2-ucp2
#11
Christine T Ferrara, Kara E Boodhansingh, Elenora Paradies, Fiermonte Giuseppe, Linda J Steinkrauss, Lisa Swartz Topor, Jose Bernardo Quintos, Arupa Ganguly, Diva D De Leon, Ferdinando Palmieri, Charles A Stanley
CONTEXT: The rarest genetic form of congenital hyperinsulinism (HI) has been associated with dominant inactivating mutations in uncoupling protein 2 (UCP2), a mitochondrial inner membrane carrier that modulates the oxidation of glucose vs amino acids. OBJECTIVE: To evaluate the frequency of UCP2 mutations in children with HI and phenotypic features of this form of HI. DESIGN: We examined 211 children with diazoxide-responsive HI seen at The Children's Hospital of Philadelphia (CHOP) between 1997 and October 2016...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27934605/generation-of-an-abcc8-heterozygous-mutation-human-embryonic-stem-cell-line-using-crispr-cas9
#12
Dongsheng Guo, Haikun Liu, Ge Gao, Aynisahan Ruzi, Kepin Wang, Han Wu, Keyu Lai, Yanli Liu, Fan Yang, Liangxue Lai, Yin-Xiong Li
The gene of ATP-binding cassette subfamily C member 8 (Abcc8) is cytogenetically located at 11p15.1 and encodes the sulfonylurea receptor (SUR1). SUR1 is a subunit of ATP-sensitive potassium channel (KAPT) in the β-cell regulating insulin secretion. Mutations of ABCC8 are responsible for congenital hyperinsulinism (CHI). Here we reported that an Abcc8 heterozygous mutant cell line was generated by CRISPR/Cas9 technique with 1bp insertion resulting in abnormal splicing on human embryonic stem cell line H1. The phenotypic characteristics of this cell line reveal defective KATP channel and diazoxide-responsive that provides ideal model for molecular pathology research and drug screening for CHI...
November 5, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27934599/generation-of-an-abcc8-homozygous-mutation-human-embryonic-stem-cell-line-using-crispr-cas9
#13
Dongsheng Guo, Haikun Liu, Ge Gao, Aynisahan Ruzi, Kepin Wang, Han Wu, Keyu Lai, Yanli Liu, Fan Yang, Liangxue Lai, Yin-Xiong Li
The gene of ATP-binding cassette subfamily C member 8 (Abcc8) is cytogenetically located at 11p15.1 and encodes the sulfonylurea receptor (SUR1). SUR1 is a subunit of ATP-sensitive potassium channel (KAPT) in the β-cell regulating insulin secretion. Mutations of ABCC8 are responsible for congenital hyperinsulinism (CHI). Here we generated an Abcc8 homozygous mutant cell line by CRISPR/Cas9 technique with 22bp deletion resulting in abnormal splicing on human embryonic stem cell line H1. The phenotypic characteristics of this cell line reveal defective KATP channel and diazoxide-unresponsive that provides an ideal model for molecular pathology research and drug screening for CHI...
November 9, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27921434/-actual-trends-in-diagnostics-and-treatment-of-congenital-hyperinsulinism
#14
Juraj Staník, Martina Škopková, Monika Rosoľanková, Iwar Klimeš, Daniela Gašperíková
Congenital hyperinsulinism (CHI) is the most common cause of severe persistent hypoglycemia in neonates and infants. Early diagnosis and effective treatment (based on the principles of pharmacogenetics) play the key role for the prognosis. The DNA anlysis, which can identify mutation in one of the 11 genes causing MODY, is crutial in the diagnostics. Moreover, The genotype determines also the optimal therapy approach (medicaments, diet or rarely surgery). There was a large progress of novel medicaments treating particularly most severe (diazoxide-resistant) forms of CHI...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921429/-congenital-hyperinsulinism-loss-of-b-cell-self-control
#15
Jan Lebl, Klára Roženková, Štěpánka Průhová
Congenital hyperinsulinism is a serious blood glucose regulation defect that interferes with brain development, leading to mental retardation, neurological sequelae and secondary epilepsy and ultimately may be life-threatening. Congenital hyperinsulinism (CHI) is caused by genetic defects of regulation of insulin secretion that induce insulin oversecretion in intrauterine life and postnatally. The clinical consequence is fetal macrosomia and subsequently neonatal and infantile hypoglycaemia. The most severe form is caused by biallelic mutations of KCNJ11 and ABCC8 genes that encode both potassium channel subunits, whereas their heterozygous mutations as well as enzymatic defects (GLUD1, HADH, GCK) lead to milder presentation...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27910218/octreotide-use-and-safety-in-infants-with-hyperinsulinism
#16
Ann W McMahon, Gerold T Wharton, Paul Thornton, Diva D De Leon
BACKGROUND: Octreotide is a synthetic peptide analog of naturally occurring somatostatin. Octreotide is used off-label in children <6 years of age for hyperinsulinism, chylothorax, and gastrointestinal bleeding. There is a lack of controlled data on efficacy or potential adverse events from this off-label use. METHODS: Three pediatric hospitals participated in this study. Patients were hospitalized January 2007-December 2010 and administered octreotide for congenital hyperinsulinism (CHI) at least 1 day...
January 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/27908292/conservatively-treated-congenital-hyperinsulinism-chi-due-to-k-atp-channel-gene-mutations-reducing-severity-over-time
#17
Maria Salomon-Estebanez, Sarah E Flanagan, Sian Ellard, Lindsey Rigby, Louise Bowden, Zainab Mohamed, Jacqueline Nicholson, Mars Skae, Caroline Hall, Ross Craigie, Raja Padidela, Nuala Murphy, Tabitha Randell, Karen E Cosgrove, Mark J Dunne, Indraneel Banerjee
BACKGROUND: Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural history of medically treated K-ATP CHI has not been described; it is unclear if the severity of recessively and dominantly inherited K-ATP CHI reduces over time. We aimed to review variation in severity and outcomes in patients with K-ATP CHI treated by medical therapy. METHODS: Twenty-one consecutively presenting patients with K-ATP CHI with dominantly and recessively inherited mutations in ABCC8/KCNJ11 were selected in a specialised CHI treatment centre to review treatment outcomes...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27905047/endoscopic-ultrasound-guided-fine-needle-aspiration-biopsy-eus-fna-in-insulinomas-indications-and-clinical-relevance-in-a-single-investigator-cohort-of-47-patients
#18
Peter Herbert Kann, Roland Moll, Detlef Bartsch, Andreas Pfützner, Thomas Forst, Gianluca Tamagno, Joachim N Goebel, Verena Fourkiotis, Simona Raluca Bergmann, Maike Collienne
PURPOSE: This study was aimed to investigate the role and relevance of endoscopic ultrasound-guided fine-needle aspiration biopsy in the diagnostic work-up of insulinomas. METHODS: We have analysed the frequency, clinical indications, success rate (obtaining diagnostic tissue), diagnostic accuracy (in comparison to the pathological diagnosis after surgery), complications, and tolerability of endoscopic ultrasound-guided fine-needle aspiration biopsy and the localization and size of the lesions in 47 consecutive patients (29 females, 18 males; 46 ± 15 years) who had surgery for insulinoma following fasting test and were explored by single investigator EUS 1994-2015...
November 30, 2016: Endocrine
https://www.readbyqxmd.com/read/27808506/identification-of-a-novel-activator-of-mammalian-glutamate-dehydrogenase
#19
Hong Q Smith, Thomas J Smith
Glutamate dehydrogenase (GDH) catalyzes the oxidative deamination of l-glutamate and in animals is highly regulated. GDH in hyperinsulinism/hyperammonemia syndrome patients lacks GTP inhibition, resulting in hypersecretion of insulin upon protein consumption. This suggests insulin secretion could be stimulated with GDH activators. A high-throughput screen yielded one potent activator, N1-[4-(2-aminopyrimidin-4-yl)phenyl]-3-(trifluoromethyl)benzene-1-sulfonamide (75-E10). 75-E10 is ∼1000-fold more efficacious than the synthetic activator, BCH, and is at least as effective as ADP...
November 29, 2016: Biochemistry
https://www.readbyqxmd.com/read/27795707/arterial-calcium-stimulation-with-hepatic-venous-sampling-in-the-localization-diagnosis-of-endogenous-hyperinsulinism
#20
Paloma Moreno-Moreno, María Rosa Alhambra-Expósito, Aura Dulcinea Herrera-Martínez, Rafel Palomares-Ortega, Luis Zurera-Tendero, Juan José Espejo Herrero, María Angeles Gálvez-Moreno
Objective. The aim of this study was to assess the utility of arterial calcium stimulation with hepatic venous sampling (ASVS) in the localization diagnosis of endogenous hyperinsulinism. Patients and Methods. A retrospective descriptive study was performed including patients with endogenous hyperinsulinism who underwent ASVS. The histopathological diagnosis in patients who underwent a surgical procedure was used as the reference for the statistical study of the accuracy of this technique. Results. 30 patients were included with endogenous hyperinsulinism and nonconclusive imaging diagnosis was included...
2016: International Journal of Endocrinology
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