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https://www.readbyqxmd.com/read/29470101/ebselen-reversibly-inhibits-human-glutamate-dehydrogenase-at-the-catalytic-site
#1
Yanhong Jin, Di Li, Shiying Lu, Han Zhao, Zhao Chen, Wei Hou, Benfang Helen Ruan
Human glutamate dehydrogenase (GDH) plays an important role in neurological diseases, tumor metabolism, and hyperinsulinism-hyperammonemia syndrome (HHS). However, there are very few inhibitors known for human GDH. Recently, Ebselen was reported to crosslink with Escherichia coli GDH at the active site cysteine residue (Cys321), but the sequence alignment showed that the corresponding residue is Ala329 in human GDH. To investigate whether Ebselen could be an inhibitor for human GDH, we cloned and expressed an N-terminal His-tagged human GDH in E...
February 22, 2018: Assay and Drug Development Technologies
https://www.readbyqxmd.com/read/29425029/mechanistic-origins-of-enzyme-activation-in-human-glucokinase-variants-associated-with-congenital-hyperinsulinism
#2
Shawn Sternisha, Peilu Liu, Alan G Marshall, Brian G Miller
Human glucokinase (GCK) acts as the body's primary glucose sensor and plays a critical role in glucose homeostatic maintenance. Gain-of-function mutations in gck produce hyperactive enzyme variants that cause congenital hyperinsulinism. Prior biochemical and biophysical studies suggest that activated disease variants can be segregated into two mechanistically distinct classes, termed α-type and β-type. Steady-state viscosity variation studies indicate that the kcat values of wild-type GCK and an α-type variant are partially diffusion-limited, whereas the kcat value of a β-type variant is viscosity-independent...
February 9, 2018: Biochemistry
https://www.readbyqxmd.com/read/29417725/whole-exome-sequencing-for-mutation-detection-in-pediatric-disorders-of-insulin-secretion-maturity-onset-diabetes-of-the-young-and-congenital-hyperinsulinism
#3
S R Johnson, P J Leo, A M McInerney-Leo, L K Anderson, M Marshall, I McGown, F Newell, M A Brown, L S Conwell, M Harris, E L Duncan
BACKGROUND: To assess the utility of whole-exome sequencing (WES) for mutation detection in maturity-onset diabetes of the young (MODY) and congenital hyperinsulinism (CHI). MODY and CHI are the two commonest monogenic disorders of glucose-regulated insulin secretion in childhood, with 13 causative genes known for MODY and 10 causative genes identified for CHI. The large number of potential genes makes comprehensive screening using traditional methods expensive and time-consuming. METHODS: Ten subjects with MODY and five with CHI with known mutations underwent WES using two different exome capture kits (Nimblegen SeqCap EZ Human v3...
February 8, 2018: Pediatric Diabetes
https://www.readbyqxmd.com/read/29415555/stable-liquid-glucagon-beyond-emergency-hypoglycemia-rescue
#4
Leah M Wilson, Jessica R Castle
Glycemic control is the mainstay of preventing diabetes complications at the expense of increased risk of hypoglycemia. Severe hypoglycemia negatively impacts the quality of life of patients with type 1 diabetes and can lead to morbidity and mortality. Currently available glucagon emergency kits are effective at treating hypoglycemia when correctly used, however use is complicated especially by untrained persons. Better formulations and devices for glucagon treatment of hypoglycemia are needed, specifically stable liquid glucagon...
February 1, 2018: Journal of Diabetes Science and Technology
https://www.readbyqxmd.com/read/29406007/hyperinsulinism-in-the-neonate
#5
REVIEW
Katherine Lord, Diva D De León
Hyperinsulinism (HI) is the leading cause of persistent hypoglycemia in infants. Prompt recognition and treatment, independent of whether infants have transient or permanent HI, are essential to decrease risk of neurologic damage. The most common form of congenital HI is due to inactivating mutations of the β-cell ATP-sensitive potassium (KATP ) channel (KATP -HI) and is typically diazoxide unresponsive. KATP -HI occurs in diffuse and focal forms. Distinguishing between the 2 forms is crucial, because pancreatectomy is curative in the focal form but palliative in the diffuse form...
March 2018: Clinics in Perinatology
https://www.readbyqxmd.com/read/29355062/effects-of-gestational-and-pregestational-diabetes-mellitus-on-the-foetal-heart-a-cross-sectional-study
#6
Pinar Dervisoglu, Mustafa Kosecik, Serkan Kumbasar
We examined the foetal cardiac structural and functional characteristics in diabetic pregnancies versus non-diabetic, healthy pregnancies. Between August 2015 and April 2016, 32 pregnant women with pregestational diabetes, 36 pregnant women with gestational diabetes, and 42 healthy pregnant women were scheduled to have foetal echocardiograms to assess cardiac structure and function. In the diabetic groups, the foetal interventricular septum (IVS) thickness was significantly greater than in non-diabetics (p < ...
January 21, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29334830/cardiopulmonary-bypass-for-a-patient-with-congenital-hyperinsulinemia
#7
Richard Crook, Richard Issitt
Congenital hyperinsulinism is a clinical syndrome of pancreatic β-cell dysfunction characterized by failure to suppress insulin secretion in the presence of hypoglycemia. Here, we describe the concerns, the techniques used to ameliorate these potential problems, and the outcomes for a child with this condition undergoing cardiopulmonary bypass for correction of an atrial septal defect.
January 1, 2018: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29329447/congenital-hyperinsulinism-and-hypopituitarism-attributable-to-a-novel-mutation-in-foxa2
#8
Mary Ellen Vajravelu, Jinghua Chai, Bryan Krock, Samuel Baker, David Langdon, Craig Alter, Diva D De León
Context: Persistent hypoglycemia in the newborn period most commonly occurs due to hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic hormone deficiency. Forkhead box A2 (Foxa2) is a transcription factor shown in mouse models to influence insulin secretion by pancreatic beta cells. In addition, Foxa2 is involved in regulation of pituitary development, and deletions of FOXA2 have been linked to panhypopituitarism...
January 10, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29301189/congenital-hyperinsulinism-diagnostic-and-management-challenges-in-a-developing-country-case-report
#9
Cheri Mathews John, Prakash Agarwal, Suriyakumar Govindarajulu, Sandhya Sundaram, Senthil Senniappan
Management of congenital hyperinsulinemia of infancy (CHI) is challenging. A 4-month-old female infant with persistent hypoglycemia and elevated insulin levels was diagnosed with CHI. Gallium-68 DOTANOC positron emission tomography/computed tomography (PET/CT) scan (68Ga-labeled [1,4,7,10-tetraazacyclododecane-N,N',N'',N'''-tetraacetic acid]-1-NaI3-octreotide) demonstrated focal disease in the body of the pancreas. Genetic studies indicated paternal inheritance, making focal disease likely. She was started on diazoxide therapy with partial improvement in blood glucose levels...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29287187/evaluation-of-oral-sugar-test-response-for-detection-of-equine-metabolic-syndrome-in-obese-crioulo-horses
#10
C Cantarelli, S L Dau, S Stefanello, M S Azevedo, G R De Bastiani, H E Palma, K E Brass, F D De La Côrte
Owing to the high prevalence of obesity in Crioulo horses, information allowing early diagnosis of equine metabolic syndrome (EMS) and prevention of the associated laminitis is of great value. The aim of this study was to evaluate the occurrence of EMS and the response to an oral sugar test (OST) in obese Crioulo horses. Twenty-two Crioulo horses were allocated into 3 groups according to their body condition score (BCS out of 9) and presence or absence of laminitis as follows: CON (6/22), BCS < 7; OB (8/22), BCS ≥ 7; and LAM (8/22), BCS ≥7 with clinical and/or radiographic signs of laminitis...
October 31, 2017: Domestic Animal Endocrinology
https://www.readbyqxmd.com/read/29280746/congenital-hyperinsulinism-diagnosis-and-treatment-update
#11
Hüseyin Demirbilek, Khalid Hussain
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is the inappropriate seretion of insulin in the presence of low plasma glucose levels and leads to severe and persistent hypoglycaemia in neonates and children. Mutations in 12 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1 and PMM2) that are involved in the regulation of insulin secretion from pancreatic β-cells have been described to be responsible for the underlying molecular mechanisms leading to congenital HH...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29242734/images-from-18f-dopa-scan-in-congenital-hyperinsulinism-not-always-a-clue-for-diagnosis
#12
Evelina Maines, Luca Giacomello, Mirko D'Onofrio, Matteo Salgarello, Rossella Gaudino, Laura Baggio, Andrea Bordugo
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in childhood (Horm Res 70:65-72, 2008; J Clin Endocr Metab 93:869-875, 2008). 18-Fluoro-L-dihydroxy-phenylalanine (18F-DOPA) positron emission tomography (PET) can detect areas of increased activity in the pancreas and may differentiate focal from diffuse CHI (J Clin Endocr Metab 93:869-875, 2008; Radiology 253:216-222, 2009). We here report the case of a girl who complained of recurrent episodes of severe hypoglycaemia despite previous partial pancreatectomy...
December 2017: Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29241206/a-multicenter-experience-with-long-acting-somatostatin-analogues-in-patients-with-congenital-hyperinsulinism
#13
Ivo van der Steen, Mirjam E van Albada, Klaus Mohnike, Henrik Thybo Christesen, Susann Empting, Maria Salomon-Estebanez, Amalie Greve Rasmussen, Annemarie Verrijn Stuart, Annelieke A A van der Linde, Indraneel Banerjee, Annemieke M Boot
BACKGROUND/AIMS: Congenital hyperinsulinism (CHI) is a rare disease characterized by recurrent severe hypoglycemia. In the diffuse form of CHI, pharmacotherapy is the preferred choice of treatment. Long-acting somatostatin analogues have been used in children as off-label medication. However, the efficacy, outcomes, and adverse effect profiles of long-acting somatostatin analogues have not been described in multicentered studies. The aim of this retrospective study is to summarize the experience with long-acting somatostatin analogues in a large group of children with CHI...
December 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29217498/sirolimus-induced-hepatitis-in-two-cases-with-hyperinsulinemic-hypoglycemia
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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...
January 2018: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29133209/genome-wide-sequencing-expands-the-phenotypic-spectrum-of-ep300-variants
#20
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
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