Database : MEDLINE
Search on : Congenital and Hyperinsulinism [Words]
References found : 753 [refine]
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[PMID]: 29329447
[Au] Autor:Vajravelu ME; Chai J; Krock B; Baker S; Langdon D; Alter C; De León DD
[Ad] Address:Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
[Ti] Title:Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.
[So] Source:J Clin Endocrinol Metab;103(3):1042-1047, 2018 Mar 01.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Context: Persistent hypoglycemia in the newborn period most commonly occurs as a result of 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 ß cells. In addition, Foxa2 is involved in regulation of pituitary development, and deletions of FOXA2 have been linked to panhypopituitarism. Objective: To describe an infant with congenital hyperinsulinism and hypopituitarism as a result of a mutation in FOXA2 and to determine the functional impact of the identified mutation. Main Outcome Measure: Difference in wild-type (WT) vs mutant Foxa2 transactivation of target genes that are critical for ß cell function (ABCC8, KNCJ11, HADH) and pituitary development (GLI2, NKX2-2, SHH). Results: Transactivation by mutant Foxa2 of all genes studied was substantially decreased compared with WT. Conclusions: We report a mutation in FOXA2 leading to congenital hyperinsulinism and hypopituitarism and provide functional evidence of the molecular mechanism responsible for this phenotype.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1210/jc.2017-02157

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[PMID]: 29355062
[Au] Autor:Dervisoglu P; Kosecik M; Kumbasar S
[Ad] Address:a Department of Pediatric Cardiology , Sakarya University School of Medicine, Sakarya Research and Education Hospital , Sakarya , Turkey.
[Ti] Title:Effects of gestational and pregestational diabetes mellitus on the foetal heart: a cross-sectional study.
[So] Source:J Obstet Gynaecol;38(3):408-412, 2018 Apr.
[Is] ISSN:1364-6893
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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 < .05) but none had an IVS >2 SD from normal. The peak velocity of tricuspid E, and the E/A ratio were significantly lower in the diabetic groups (p < .05). Tricuspid valve E values and the E /A ratio were lower in the diabetic group than in the control group (p < .05) but there was no significant difference between the pre-GDM and GDM groups (p > .05). Interventricular septal hypertrophy is the most common structural abnormality in diabetic pregnancies. These changes do not pose a risk to the foetal unless they cause functional impairment. Thus, we believe that it is important for diabetic pregnant women to be monitored for foetal cardiac diastolic dysfunction. Impact statement What is already known on this subject? Pregestational insulin-dependent diabetes mellitus is a relatively common condition in pregnancy, affecting up to 0.5% of the pregnant population. Foetuses of diabetic mothers are at an increased risk of perinatal morbidity and death. Gestational diabetes mellitus is under-recognised and affects up to 4% of pregnancies. Although diabetes mellitus is known to increase the risk of cardiovascular defects and structural changes (myocardial hypertrophy and diastolic dysfunction) due to foetal hyperglycaemia and hyperinsulinism, similar data in women with gestational diabetes is scarce. Moreover, the effect of maternal hyperglycaemia on foetal cardiac structure and function is unclear because of discordant results from previous studies. What do the results of this study add? In this study, we have used foetal echocardiography, two-dimensional US, pulsed wave Doppler and TDI to characterise the foetal cardiac structure and function in normal pregnancies as well as in the pregnancies complicated by GDM, and pregestational DM. Interventricular septum thickness is increased in women with pregestational diabetes mellitus and impaired diastolic function. The dominant right ventricle of the foetal circulation was affected earlier than the left ventricle. What are the implications of these findings for clinical practice and/or further research? Large population-based studies are required to establish the absolute risk of congenital heart defects in patients with pregestational diabetes and pregestational diabetes in the utility of routine screening.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process
[do] DOI:10.1080/01443615.2017.1410536

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[PMID]: 29503277
[Au] Autor:Patil P; Giri D; Didi M; Senniappan S
[Ad] Address:Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
[Ti] Title:Ketotic Hypoglycemia in Children with Previous Transient Congenital Hyperinsulinism.
[So] Source:Indian Pediatr;55(2):167-168, 2018 Feb 15.
[Is] ISSN:0974-7559
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Congenital Hyperinsulinism (CHI) is a major cause of neonatal hypoglycemia characterised by non-ketotic hypoglycemia. We describe the occurrence and higher prevalence of ketotic hypoglycemia (KH) in 5 children with transient CHI. Four children had required diazoxide to control the persistent hypoglycemia that was discontinued at a mean age of 11.25 (+5.25) months. KH developed after an average time period of 6.7 months following the resolution of CHI. Children with transient CHI may be at risk of subsequently developing KH at a variable age period.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Data-Review

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[PMID]: 29502919
[Au] Autor:Gardeitchik T; Wyckmans J; Morava E
[Ad] Address:Department of Human Genetics, Radboudumc Medical Center, Geert Grooteplein, 6500 HB, Nijmegen, The Netherlands.
[Ti] Title:Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.
[So] Source:Pediatr Clin North Am;65(2):375-388, 2018 Apr.
[Is] ISSN:1557-8240
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease. Chronic lactic acidosis is highly suggestive of mitochondrial dysfunction. Serum transferrin isoform analysis is specific for glycosylation abnormalities but not abnormal in all types of CDG.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Data-Review

  5 / 753 MEDLINE  
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[PMID]: 29241206
[Au] Autor:van der Steen I; van Albada ME; Mohnike K; Christesen HT; Empting S; Salomon-Estebanez M; Greve Rasmussen A; Verrijn Stuart A; van der Linde AAA; Banerjee I; Boot AM
[Ad] Address:Department of Pediatric Endocrinology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
[Ti] Title:A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism.
[So] Source:Horm Res Paediatr;89(2):82-89, 2018.
[Is] ISSN:1663-2826
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract: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. METHODS: Data were obtained retrospectively from 27 patients with CHI who received long-acting somatostatin analogues in 6 different centers in Europe. These included information on glycemic stability, auxology, and adverse effect profile in clinical follow-up assessments. RESULTS: Blood glucose control improved in most patients (89%). No life-threatening side effects occurred. Thirteen patients (48%) experienced side effects; in 3 patients (11%), the side effects were the main reason for discontinuation of the treatment. The most frequent side effect was elevated liver enzymes (n = 10, 37%). CONCLUSION: Long-acting somatostatin analogues are effective in glycemic control of patients with CHI. However, in 37% of all patients increased liver enzymes were observed. It is important to monitor liver function in all patients receiving long-acting somatostatin analogue therapy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:In-Process
[do] DOI:10.1159/000485184

  6 / 753 MEDLINE  
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[PMID]: 29425029
[Au] Autor:Sternisha SM; Liu P; Marshall AG; Miller BG
[Ad] Address:Department of Chemistry and Biochemistry, Florida State University , Tallahassee, Florida 32306, United States.
[Ti] Title:Mechanistic Origins of Enzyme Activation in Human Glucokinase Variants Associated with Congenital Hyperinsulinism.
[So] Source:Biochemistry;, 2018 Feb 20.
[Is] ISSN:1520-4995
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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 ß-type. Steady-state viscosity variation studies indicate that the k values of wild-type GCK and an α-type variant are partially diffusion-limited, whereas the k value of a ß-type variant is viscosity-independent. Transient-state chemical quench-flow analyses demonstrate that wild-type GCK and the α-type variant display burst kinetics, whereas the ß-type variant lacks a burst phase. Comparative hydrogen-deuterium exchange mass spectrometry of unliganded enzymes demonstrates that a disordered active site loop, which folds upon binding of glucose, is protected from exchange in the α-type variant. The α-type variant also displays an increased level of exchange within a ß-strand located near the enzyme's hinge region, which becomes more solvent-exposed upon glucose binding. In contrast, ß-type activation causes no substantial difference in global or local exchange relative to that of unliganded, wild-type GCK. Together, these results demonstrate that α-type activation results from a shift in the conformational ensemble of unliganded GCK toward a state resembling the glucose-bound conformation, whereas ß-type activation is attributable to an accelerated rate of product release. This work elucidates the molecular basis of naturally occurring, activated GCK disease variants and provides insight into the structural and dynamic origins of GCK's unique kinetic cooperativity.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:Publisher
[do] DOI:10.1021/acs.biochem.8b00022

  7 / 753 MEDLINE  
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[PMID]: 29440278
[Au] Autor:Srivastava S; Li Z; Soomro I; Sun Y; Wang J; Bao L; Coetzee WA; Stanley CA; Li C; Skolnik EY
[Ad] Address:Division of Nephrology.
[Ti] Title:Regulation of K Channel Trafficking in Pancreatic ß Cells by Protein Histidine Phosphorylation.
[So] Source:Diabetes;, 2018 Feb 12.
[Is] ISSN:1939-327X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Protein histidine phosphatase 1 (PHPT-1) is an evolutionarily conserved 14 kDa protein that dephosphorylates phosphohistidine. mice were generated to gain insight into the role of PHPT-1 and histidine phosphorylation/dephosphorylation in mammalian biology. mice exhibited neonatal hyperinsulinemic hypoglycemia due to impaired trafficking of K channels to the plasma membrane in pancreatic ß cells in response to low glucose and leptin and resembled patients with congenital hyperinsulinism (CHI). The defect in K channel trafficking in PHPT-1 ß cells was due to the failure of PHPT-1 to directly activate transient receptor potential channel 4 (TRPC4) resulting in decreased Ca influx and impaired downstream activation of AMPK. Thus, these studies demonstrate a critical role for PHPT-1 in normal pancreatic ß cell function and raise the possibility that mutations in PHPT-1 and/or TRPC4 may account for yet to be defined cases of CHI.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180216
[Lr] Last revision date:180216
[St] Status:Publisher

  8 / 753 MEDLINE  
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[PMID]: 29417725
[Au] Autor:Johnson SR; Leo PJ; McInerney-Leo AM; Anderson LK; Marshall M; McGown I; Newell F; Brown MA; Conwell LS; Harris M; Duncan EL
[Ad] Address:Department of Endocrinology, Lady Cilento Children's Hospital, South Brisbane, Australia.
[Ti] Title:Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.
[So] Source:Pediatr Diabetes;, 2018 Feb 08.
[Is] ISSN:1399-5448
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract: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 v3.0 Exome Enrichment Kit, Nextera Rapid Capture Exome Kit). Analysis was blinded to previously identified mutations, and included assessment for large deletions. The target capture of five exome capture technologies was also analyzed using sequencing data from >2800 unrelated samples. RESULTS: Four of five MODY mutations were identified using Nimblegen (including a large deletion in HNF1B). Although targeted, one mutation (in INS) had insufficient coverage for detection. Eleven of eleven mutations (six MODY, five CHI) were identified using Nextera Rapid (including the previously missed mutation). On reconciliation, all mutations concorded with previous data and no additional variants in MODY genes were detected. There were marked differences in the performance of the capture technologies. CONCLUSIONS: WES can be useful for screening for MODY/CHI mutations, detecting both point mutations and large deletions. However, capture technologies require careful selection.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:Publisher
[do] DOI:10.1111/pedi.12638

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[PMID]: 29415555
[Au] Autor:Wilson LM; Castle JR
[Ad] Address:1 Division of Endocrinology, Diabetes and Clinical Nutrition, Oregon Health & Science University, Portland, OR, USA.
[Ti] Title:Stable Liquid Glucagon: Beyond Emergency Hypoglycemia Rescue.
[So] Source:J Diabetes Sci Technol;:1932296818757795, 2018 Feb 01.
[Is] ISSN:1932-2968
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Out of the scope of this review, other potential uses of stable liquid glucagon include congenital hyperinsulinism, post-bariatric surgery hypoglycemia, and insulinoma induced hypoglycemia. In the 35 years since Food and Drug Administration (FDA) approval of the first liquid stable human recombinant insulin, we continue to wait for the glucagon counterpart. For mild hypoglycemia, a commercially available liquid stable glucagon would enable more widespread implementation of mini-dose glucagon use as well as glucagon in dual hormone closed-loop systems. This review focuses on the current and upcoming pharmaceutical uses of glucagon in the treatment of type 1 diabetes with an outlook on stable liquid glucagon preparations that will hopefully be available for use in patients in the near future.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:Publisher
[do] DOI:10.1177/1932296818757795

  10 / 753 MEDLINE  
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[PMID]: 29406007
[Au] Autor:Lord K; De León DD
[Ad] Address:The Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA.
[Ti] Title:Hyperinsulinism in the Neonate.
[So] Source:Clin Perinatol;45(1):61-74, 2018 Mar.
[Is] ISSN:1557-9840
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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 ß-cell ATP-sensitive potassium (K ) channel (K -HI) and is typically diazoxide unresponsive. K -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. The 18-fluoro-L-3,4-dihydroxyphenylalanine PET scan has revolutionized HI management by allowing accurate localization of focal lesions prior to surgery.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180206
[Lr] Last revision date:180206
[St] Status:In-Data-Review


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