Congenital Hyperinsulinism: A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).Hyperinsulinism: A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.Sulfonylurea Receptors: ATP-BINDING CASSETTE PROTEINS that are highly conserved and widely expressed in nature. They form an integral part of the ATP-sensitive potassium channel complex which has two intracellular nucleotide folds that bind to sulfonylureas and their analogs.Receptors, Drug: Proteins that bind specific drugs with high affinity and trigger intracellular changes influencing the behavior of cells. Drug receptors are generally thought to be receptors for some endogenous substance not otherwise specified.Potassium Channels, Inwardly Rectifying: Potassium channels where the flow of K+ ions into the cell is greater than the outward flow.Diazoxide: A benzothiadiazine derivative that is a peripheral vasodilator used for hypertensive emergencies. It lacks diuretic effect, apparently because it lacks a sulfonamide group.Pancreatectomy: Surgical removal of the pancreas. (Dorland, 28th ed)ATP-Binding Cassette Transporters: A family of MEMBRANE TRANSPORT PROTEINS that require ATP hydrolysis for the transport of substrates across membranes. The protein family derives its name from the ATP-binding domain found on the protein.KATP Channels: Heteromultimers of Kir6 channels (the pore portion) and sulfonylurea receptor (the regulatory portion) which affect function of the HEART; PANCREATIC BETA CELLS; and KIDNEY COLLECTING DUCTS. KATP channel blockers include GLIBENCLAMIDE and mitiglinide whereas openers include CROMAKALIM and minoxidil sulfate.Hypoglycemia: A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.Glutamate Dehydrogenase: An enzyme that catalyzes the conversion of L-glutamate and water to 2-oxoglutarate and NH3 in the presence of NAD+. (From Enzyme Nomenclature, 1992) EC 1.4.1.2.Insulin: A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).Potassium Channels: Cell membrane glycoproteins that are selectively permeable to potassium ions. At least eight major groups of K channels exist and they are made up of dozens of different subunits.Insulin-Secreting Cells: A type of pancreatic cell representing about 50-80% of the islet cells. Beta cells secrete INSULIN.Infant, Newborn: An infant during the first month after birth.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Diagnostic Techniques, Endocrine: Methods and procedures for the diagnosis of diseases or dysfunction of the endocrine glands or demonstration of their physiological processes.Hyperammonemia: Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.PhiladelphiaPsychology, Clinical: The branch of psychology concerned with psychological methods of recognizing and treating behavior disorders.Social Work: The use of community resources, individual case work, or group work to promote the adaptive capacities of individuals in relation to their social and economic environments. It includes social service agencies.Patient Care Team: Care of patients by a multidisciplinary team usually organized under the leadership of a physician; each member of the team has specific responsibilities and the whole team contributes to the care of the patient.Speech-Language Pathology: The study of speech or language disorders and their diagnosis and correction.Inappropriate ADH Syndrome: A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced.Asphyxia Neonatorum: Respiratory failure in the newborn. (Dorland, 27th ed)Registries: The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.Acute Coronary Syndrome: An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.Bariatric Surgery: Surgical procedures aimed at affecting metabolism and producing major WEIGHT REDUCTION in patients with MORBID OBESITY.Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.Fantasy: An imagined sequence of events or mental images, e.g., daydreams.Orphan Drug Production: Production of drugs or biologicals which are unlikely to be manufactured by private industry unless special incentives are provided by others.delta-Thalassemia: A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA.FinlandClick Chemistry: Organic chemistry methodology that mimics the modular nature of various biosynthetic processes. It uses highly reliable and selective reactions designed to "click" i.e., rapidly join small modular units together in high yield, without offensive byproducts. In combination with COMBINATORIAL CHEMISTRY TECHNIQUES, it is used for the synthesis of new compounds and combinatorial libraries.Ketone Bodies: The metabolic substances ACETONE; 3-HYDROXYBUTYRIC ACID; and acetoacetic acid (ACETOACETATES). They are produced in the liver and kidney during FATTY ACIDS oxidation and used as a source of energy by the heart, muscle and brain.Endocrinology: A subspecialty of internal medicine concerned with the metabolism, physiology, and disorders of the ENDOCRINE SYSTEM.Blood Glucose: Glucose in blood.Glucokinase: A group of enzymes that catalyzes the conversion of ATP and D-glucose to ADP and D-glucose 6-phosphate. They are found in invertebrates and microorganisms, and are highly specific for glucose. (Enzyme Nomenclature, 1992) EC 2.7.1.2.DNA Breaks, Double-Stranded: Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Nuclear Medicine Department, Hospital: Hospital department responsible for the administration and management of nuclear medicine services.Nuclear Medicine: A specialty field of radiology concerned with diagnostic, therapeutic, and investigative use of radioactive compounds in a pharmaceutical form.Dihydroxyphenylalanine: A beta-hydroxylated derivative of phenylalanine. The D-form of dihydroxyphenylalanine has less physiologic activity than the L-form and is commonly used experimentally to determine whether the pharmacological effects of LEVODOPA are stereospecific.Pancreas: A nodular organ in the ABDOMEN that contains a mixture of ENDOCRINE GLANDS and EXOCRINE GLANDS. The small endocrine portion consists of the ISLETS OF LANGERHANS secreting a number of hormones into the blood stream. The large exocrine portion (EXOCRINE PANCREAS) is a compound acinar gland that secretes several digestive enzymes into the pancreatic ductal system that empties into the DUODENUM.Incest: Sexual intercourse between persons so closely related that they are forbidden by law to marry.Elapidae: A family of extremely venomous snakes, comprising coral snakes, cobras, mambas, kraits, and sea snakes. They are widely distributed, being found in the southern United States, South America, Africa, southern Asia, Australia, and the Pacific Islands. The elapids include three subfamilies: Elapinae, Hydrophiinae, and Lauticaudinae. Like the viperids, they have venom fangs in the front part of the upper jaw. The mambas of Africa are the most dangerous of all snakes by virtue of their size, speed, and highly toxic venom. (Goin, Goin, and Zug, Introduction to Herpetology, 3d ed, p329-33)Cobra Venoms: Venoms from snakes of the genus Naja (family Elapidae). They contain many specific proteins that have cytotoxic, hemolytic, neurotoxic, and other properties. Like other elapid venoms, they are rich in enzymes. They include cobramines and cobralysins.

Hyperinsulinism in infancy: from basic science to clinical disease. (1/62)

Ion channelopathies have now been described in many well-characterized cell types including neurons, myocytes, epithelial cells, and endocrine cells. However, in only a few cases has the relationship between altered ion channel function, cell biology, and clinical disease been defined. Hyperinsulinism in infancy (HI) is a rare, potentially lethal condition of the newborn and early childhood. The causes of HI are varied and numerous, but in almost all cases they share a common target protein, the ATP-sensitive K+ channel. From gene defects in ion channel subunits to defects in beta-cell metabolism and anaplerosis, this review describes the relationship between pathogenesis and clinical medicine. Until recently, HI was generally considered an orphan disease, but as parallel defects in ion channels, enzymes, and metabolic pathways also give rise to diabetes and impaired insulin release, the HI paradigm has wider implications for more common disorders of the endocrine pancreas and the molecular physiology of ion transport.  (+info)

Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. (2/62)

Hyperinsulinism (HI) of infancy is a neuroendocrine disease secondary to either focal adenomatous hyperplasia or a diffuse abnormality of insulin secretion of the pancreas. HI with focal lesions can revert by selective surgical resection in contrast to the diffuse form, which requires subtotal pancreatectomy when resistant to medical treatment. Neuroendocrine diseases are a heterogeneous group of entities with the ability to take up amine precursors and to convert them into biogenic amines. Therefore, the aim of this study was (a) to evaluate the use of PET with 18F-fluoro-L-dihydroxyphenylalanine (18F-fluoro-L-DOPA) and (b) to distinguish between focal and diffuse HI. METHODS: Fifteen patients (11 boys, 4 girls) with neonatal HI were enrolled in this study. All patients fasted for at least 6 h before the PET examination and their medication was discontinued for at least 72 h. The examination was performed under light sedation (pentobarbital associated with or without chloral). The dynamic acquisition started 45-65 min after the injection of 18F-fluoro-L-DOPA (4.0 MBq/kg weight). Four or 6 scans of 5 min each (2 or 3 steps according to the height of the patient) were acquired from the neck to the upper legs. RESULTS: An abnormal focal pancreatic uptake of 18F-fluoro-L-DOPA was observed in 5 patients, whereas a diffuse uptake of the radiotracer was observed in the pancreatic area of the other patients. All patients with focal radiotracer uptake and also 4 of 10 patients with pancreatic diffuse radiotracer accumulation, unresponsive to medical treatment, underwent surgery. The histopathologic results confirmed the PET findings--that is, focal versus diffuse HI. CONCLUSION: The results of this study suggest that 18F-fluoro-L-DOPA could be an accurate noninvasive technique to distinguish between focal and diffuse forms of HI.  (+info)

Low temperature completely rescues the function of two misfolded K ATP channel disease-mutants. (3/62)

The pancreatic ATP-sensitive potassium channels comprise two subunits: SUR1 and Kir6.2. Two SUR1 mutations, A116P and V187D, reduce channel activity causing persistent hyperinsulinemic hypoglycemia of infancy. We investigated whether these mutations cause temperature sensitive misfolding. We show that the processing defect of these mutants is temperature sensitive and these two mutations disrupt the association between SUR1 and Kir6.2 by causing misfolding in SUR1 at 37 degrees C but can be rescued at 18 degrees C. Extensive electrophysiological characterization of these mutants indicated that low temperature largely, if not completely, corrects the folding defect of these two SUR1 mutants observed at 37 degrees C.  (+info)

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. (4/62)

The beta-cell ATP-sensitive potassium (KATP) channel controls insulin secretion by linking glucose metabolism to membrane excitability. Loss of KATP channel function due to mutations in ABCC8 or KCNJ11, genes that encode the sulfonylurea receptor 1 or the inward rectifier Kir6.2 subunit of the channel, is a major cause of congenital hyperinsulinism. Here, we report identification of a novel KCNJ11 mutation associated with the disease that renders a missense mutation, F55L, in the Kir6.2 protein. Mutant channels reconstituted in COS cells exhibited a wild-type-like surface expression level and normal sensitivity to ATP, MgADP, and diazoxide. However, the intrinsic open probability of the mutant channel was greatly reduced, by approximately 10-fold. This low open probability defect could be reversed by application of phosphatidylinositol 4,5-bisphosphates or oleoyl-CoA to the cytoplasmic face of the channel, indicating that reduced channel response to membrane phospholipids and/or long chain acyl-CoAs underlies the low intrinsic open probability in the mutant. Our findings reveal a novel molecular mechanism for loss of KATP channel function and congenital hyperinsulinism and support the importance of phospholipids and/or long chain acyl-CoAs in setting the physiological activity of beta-cell KATP channels. The F55L mutation is located in the slide helix of Kir6.2. Several permanent neonatal diabetes-associated mutations found in the same structure have the opposite effect of increasing intrinsic channel open probability. Our results also highlight the critical role of the Kir6.2 slide helix in determining the intrinsic open probability of KATP channels.  (+info)

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (5/62)

Congenital hyperinsulinism is a rare pancreatic endocrine cell disorder that has been categorized histologically into diffuse and focal forms. In focal hyperinsulinism, the pancreas contains a focus of endocrine cell adenomatous hyperplasia, and the patients have been reported to possess paternally inherited mutations of the ABCC8 and KCNJ11 genes, which encode subunits of an ATP-sensitive potassium channel (K(ATP)). In addition, the hyperplastic endocrine cells show loss of maternal 11p15, where imprinted genes such as p57(kip2) reside. In order to evaluate whether all cases of focal hyperinsulinism are caused by this mechanism, 56 pancreatectomy specimens with focal hyperinsulinism were tested for the loss of maternal allele by two methods: immunohistochemistry for p57(kip2) (n=56) and microsatellite marker analysis (n=27). Additionally, 49 patients were analyzed for K(ATP) mutations. Out of 56 focal lesions, 48 demonstrated clear loss of p57(kip2) expression by immunohistochemistry. The other eight lesions similarly showed no nuclear labeling, but the available tissue was not ideal for definitive interpretation. Five of these eight patients had paternal K(ATP) mutations, of which four demonstrated loss of maternal 11p15 within the lesion by microsatellite marker analysis. All of the other three without a paternal K(ATP) mutation showed loss of maternal 11p15. K(ATP) mutation analysis identified 32/49 cases with paternal mutations. There were seven patients with nonmaternal mutations whose paternal DNA material was not available, and one patient with a mutation that was not present in either parent's DNA. These eight patients showed either loss of p57(kip2) expression or loss of maternal 11p15 region by microsatellite marker analysis, as did the remaining nine patients with no identifiable K(ATP) coding region mutations. The combined results from the immunohistochemical and molecular methods indicate that maternal 11p15 loss together with paternal K(ATP) mutation is the predominant causative mechanism of focal hyperinsulinism.  (+info)

Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. (6/62)

Congenital hyperinsulinism of infancy (CHI) is characterized by severe hypoglycemia due to dysregulated insulin secretion, associated with either focal or diffuse pathology of the endocrine pancreas. The focal condition is caused by a paternally inherited mutation in one of the genes encoding the subunits of the beta-cell ATP-sensitive potassium channel (SUR1/ABCC8 or Kir6.2/KCNJ11) and somatic loss of maternal 11p15 alleles within the affected area. Until now, preoperative diagnostics have relied on technically demanding and invasive catheterization techniques. We evaluated the utility of fluorine-18 l-3,4-dihydroxyphenylalanine ([(18)F]-DOPA) positron emission tomography (PET) to identify focal pancreatic lesions in 14 CHI patients, 11 of which carried mutations in the ABCC8 gene (age 1-42 months). To reduce bias in PET image interpretation, quantitative means for evaluation of pancreatic [(18)F]-DOPA uptake were established. Five patients had a visually apparent focal accumulation of [(18)F]-DOPA and standardized uptake value (SUV) >50% higher (mean 1.8-fold) than the maximum SUV of the unaffected part of the pancreas. When these patients were operated on, a focus of 4-5 x 5-8 mm matching with the PET scan was found, and all were normoglycemic after resection of the focus. The remaining nine patients had diffuse accumulation of [(18)F]-DOPA in the pancreas (SUV ratio <1.5). Diffuse histology was verified in four of these, and pancreatic catheterization was consistent with diffuse pathology in four cases. In conclusion, [(18)F]-DOPA PET is a promising noninvasive method for the identification and localization of the focal form of CHI.  (+info)

Molecular mechanisms of neonatal hyperinsulinism. (7/62)

Congenital hyperinsulinism (CHI), characterized by profound hypoglycaemia related to inappropriate insulin secretion, may be associated histologically with either diffuse insulin hypersecretion or focal adenomatous hyperplasia, which share a similar clinical presentation, but result from different molecular mechanisms. Whereas diffuse CHI is of autosomal recessive, or less frequently of autosomal dominant, inheritance, focal CHI is sporadic. The most common mechanism underlying CHI is dysfunction of the pancreatic ATP-sensitive potassium channel (K(+)(ATP)). The two subunits of the K(+)(ATP) channel are encoded by the sulfonylurea receptor gene (SUR1 or ABCC8) and the inward-rectifying potassium channel gene (KIR6.2 or KCNJ11), both located in the 11p15.1 region. Germ-line, paternally inherited, mutations of the SUR1 or KIR6.2 genes, together with somatic maternal haplo-insufficiency for 11p15.5, were shown to result in focal CHI. Diffuse CHI results from germ-line mutations in the SUR1 or KIR6.2 genes, but also from mutations in several other genes, namely glutamate dehydrogenase (with associated hyperammonaemia), glucokinase, short-chain L-3-hydroxyacyl-CoA dehydrogenase, and insulin receptor gene. Hyperinsulinaemic hypoglycaemia may be observed in several overlapping syndromes, such as Beckwith-Wiedemann syndrome (BWS), Perlman syndrome, and, more rarely, Sotos syndrome. Mosaic genome-wide paternal isodisomy has recently been reported in patients with clinical signs of BWS and CHI. The primary causes of CHI are genetically heterogeneous and have not yet been completely unveiled. However, secondary causes of hyperinsulinism have to be considered such as fatty acid oxidation deficiency, congenital disorders of glycosylation and factitious hypoglycaemia secondary to Munchausen by proxy syndrome.  (+info)

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. (8/62)

BACKGROUND: Macrosomia is associated with considerable neonatal and maternal morbidity. Factors that predict macrosomia are poorly understood. The increased rate of macrosomia in the offspring of pregnant women with diabetes and in congenital hyperinsulinaemia is mediated by increased foetal insulin secretion. We assessed the in utero and neonatal role of two key regulators of pancreatic insulin secretion by studying birthweight and the incidence of neonatal hypoglycaemia in patients with heterozygous mutations in the maturity-onset diabetes of the young (MODY) genes HNF4A (encoding HNF-4alpha) and HNF1A/TCF1 (encoding HNF-1alpha), and the effect of pancreatic deletion of Hnf4a on foetal and neonatal insulin secretion in mice. METHODS AND FINDINGS: We examined birthweight and hypoglycaemia in 108 patients from families with diabetes due to HNF4A mutations, and 134 patients from families with HNF1A mutations. Birthweight was increased by a median of 790 g in HNF4A-mutation carriers compared to non-mutation family members (p < 0.001); 56% (30/54) of HNF4A-mutation carriers were macrosomic compared with 13% (7/54) of non-mutation family members (p < 0.001). Transient hypoglycaemia was reported in 8/54 infants with heterozygous HNF4A mutations, but was reported in none of 54 non-mutation carriers (p = 0.003). There was documented hyperinsulinaemia in three cases. Birthweight and prevalence of neonatal hypoglycaemia were not increased in HNF1A-mutation carriers. Mice with pancreatic beta-cell deletion of Hnf4a had hyperinsulinaemia in utero and hyperinsulinaemic hypoglycaemia at birth. CONCLUSIONS: HNF4A mutations are associated with a considerable increase in birthweight and macrosomia, and are a novel cause of neonatal hypoglycaemia. This study establishes a key role for HNF4A in determining foetal birthweight, and uncovers an unanticipated feature of the natural history of HNF4A-deficient diabetes, with hyperinsulinaemia at birth evolving to decreased insulin secretion and diabetes later in life.  (+info)

*Congenital hyperinsulinism

... is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by ... "congenital hyperinsulinism". Genetics Home Reference. Retrieved 2016-10-07. Hussain, K. (August 2005). "Congenital ... James, C.; Kapoor, R. R.; Ismail, D.; Hussain, K. (1 May 2009). "The genetic basis of congenital hyperinsulinism". Journal of ... "Orphanet: Congenital isolated hyperinsulinism". www.orpha.net. Retrieved 2017-01-29. "OMIM Entry - # 602485 - HYPERINSULINEMIC ...

*Sulfonylurea receptor

Fournet, J. C.; Junien, C (2004). "Genetics of congenital hyperinsulinism". Endocrine Pathology. 15 (3): 233-40. PMID 15640549 ... The SUR1 protein is coded by the ABCC8 gene and is associated with congenital hyperinsulinism and susceptibility to type 2 ...

*Neonatal hypoglycemia

Congenital hyperinsulinism Hyperinsulinemic hypoglycemia Walker, p. 319. "Neonatal Hypoglycemia : Intensive Care Nursery House ...

*GLUDP5

2000). "Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome ... "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Hum. Mutat. 13 (5): 351-61. doi:10.1002/(SICI)1098- ... 1998). "Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene". N. Engl. ... 2001). "Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate- ...

*ABCC8

Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Hum. ... Nov 1994). "Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene". Nat Genet. 7 (2): ... 1997). "Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews". Hum. Mol. ... 1999). "Genetic heterogeneity in familial hyperinsulinism". Hum. Mol. Genet. 7 (7): 1119-28. doi:10.1093/hmg/7.7.1119. PMID ...

*Glutamate dehydrogenase 1

Mazor-Aronovitch K, Landau H, Gillis D (Mar 2009). "Surgical versus non-surgical treatment of congenital hyperinsulinism". ... "Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests ... "Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ... "Long-term neurodevelopmental outcome in conservatively treated congenital hyperinsulinism". European Journal of Endocrinology ...

*Kir6.2

The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism. It is ... Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Hum. ... GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism GeneReviews/NCBI/NIH/UW entry on Permanent Neonatal Diabetes Mellitus ... in diabetes mellitus and hyperinsulinism". Hum. Mutat. 27 (3): 220-31. doi:10.1002/humu.20292. PMID 16416420. Flechtner I, de ...

*Hypoglycemia

Some forms of congenital hyperinsulinism respond to diazoxide or octreotide. Surgical removal of the overactive part of the ... When congenital hyperinsulinism is diffuse and refractory to medications, near-total pancreatectomy may be the treatment of ... or 6 mg/kg/minute in children and adults are strong evidence for hyperinsulinism. In this context this is referred to as the ... pancreas is curative with minimal risk when hyperinsulinism is focal or due to a benign insulin-producing tumor of the pancreas ...

*Hyperinsulinism hyperammonemia syndrome

"Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ... Hyperinsulinism hyperammonemia syndrome (HI/HA or HHS), is an autosomal dominant disorder that results in the excess production ...

*Congenital disorder of glycosylation

Three subtypes of CDG I (a,b,d) can cause congenital hyperinsulinism with hyperinsulinemic hypoglycemia in infancy. A ... A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare ... Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, ... Sun L, Eklund EA, Chung WK, Wang C, Cohen J, Freeze HH (July 2005). "Congenital disorder of glycosylation id presenting with ...

*Nesidioblastosis

... it was used as a synonym for what is now referred to as congenital hyperinsulinism. Most congenital hyperinsulinism is caused ... Congenital hyperinsulinism Neonatal hypoglycemia Raffel A, Krausch MM, Anlauf M, Wieben D, Braunstein S, Klöppel G, Röher H, ... However, the term has been resurrected in recent years to describe a form of acquired hyperinsulinism with beta cell ... was primarily used to describe the pancreatic dysfunction associated with persistent congenital hyperinsulinism and in most ...

*Glucokinase

This creates hypoglycemia of varying patterns, including transient or persistent congenital hyperinsulinism, or fasting or ... Glaser B (2013-01-24). Familial Hyperinsulinism. PMID 20301549. NBK1375. In Pagon RA, Bird TD, Dolan CR, et al. (eds.). ... Homozygosity for GCK alleles with reduced function can cause severe congenital insulin deficiency, resulting in persistent ...

*Hyperinsulinemic hypoglycemia

Hyperinsulinism due to diffuse overactivity of beta cells, such as in many of the forms of congenital hyperinsulinism, and more ... Hypoglycemia due to endogenous insulin Congenital hyperinsulinism Transient neonatal hyperinsulinism (mechanism not known) ... When congenital hyperinsulinism is due to focal defects of the insulin-secretion mechanism, surgical removal of that part of ... In more severe cases of persistent congenital hyperinsulinism unresponsive to drugs, a near-total pancreatectomy may be needed ...

*Diazoxide

... or congenital hyperinsulinism. Diazoxide acts as a positive allosteric modulator of the AMPA and kainate receptors, suggesting ...

*Glucose meter

A meter can occasionally be useful in the monitoring of severe types of hypoglycemia (e.g., congenital hyperinsulinism) to ...

*List of causes of hypoglycemia

All of the congenital metabolic defects, congenital forms of hyperinsulinism, and congenital hypopituitarism are likely to have ... congenital hypopituitarism, or congenital hyperinsulinism. A list of common causes: Prolonged fasting Diarrheal illness in ... Congenital hypopituitarism Congenital hyperinsulinism, several types, both transient and persistent Inborn errors of ... hypopituitarism Insulin excess Hyperinsulinism due to several congenital disorders of insulin secretion Insulin injected for ...

*List of diseases (H)

... congenital Hyperinsulinism, diffuse Hyperinsulinism, focal Hyperkalemia Hyperkalemic periodic paralysis Hyperkeratosis ... E Hyperinsulinism due to focal adenomatous hyperplasia Hyperinsulinism due to glucokinase deficiency Hyperinsulinism due to ... congenital Hillig syndrome Hing-Torack-Dowston syndrome Hinson-Pepys disease Hip dislocation Hip dysplasia Beukes type Hip ... congenital essential Hemeralopia, familial Hemi 3 syndrome Hemifacial atrophy agenesis of the caudate nucleus Hemifacial ...

*List of congenital disorders

Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism Congenital insensitivity to pain with anhidrosis (CIPA) ... Congenital malformations, deformations and chromosomal abnormalities List of ICD-9 codes 740-759: Congenital anomalies Rare ... Congenital heart defects) Hemifacial Microsomia Holoprosencephaly Huntington's disease Hirschsprung's Disease, or congenital ... Congenital central hypoventilation syndrome Congenital Diaphragmatic Hernia (CDH) ...

*Prenatal nutrition

... but the crucial role of the fetal hyperinsulinism and monitoring of motherly glucose was nevertheless stressed. Recent studies ... among other things the incidence of congenital malformations, supporting the Hypothesis, that even moderately increased blood ...

*Hyperammonemia

Congenital hyperammonemia is usually due to genetic defects in one of the enzymes of the urea cycle, such as ornithine ... hyperinsulinism-hyperammonemia syndrome (glutamate dehydrogenase 1) Online Mendelian Inheritance in Man (OMIM) 238970 - ...

*ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases

Congenital adrenogenital disorders associated with enzyme deficiency Congenital adrenal hyperplasia Congenital adrenal ... Other hypoglycaemia Functional nonhyperinsulinaemic hypoglycaemia Hyperinsulinism: NOS Hyperinsulinism: functional Hyperplasia ... Congenital hypothyroidism with diffuse goitre (E03.1) Congenital hypothyroidism without goitre (E03.2) Hypothyroidism due to ... Congenital iodine-deficiency syndrome (E01) Iodine-deficiency-related thyroid disorders and allied conditions (E01.0) Iodine- ...

*Hyperinsulinemia

A low carbohydrate diet is particularly effective in reducing hyperinsulinism.[citation needed] A healthy diet that is low in ... It can also occur in congenital hyperinsulism, including nesidioblastosis. Hyperinsulinemia is associated with hypertension, ... Ferry, R.J. (2010). Hyperinsulinism "Medscape". Hyperinsulinemia Clément L, Poirier H, Niot I, Bocher V, Guerre-Millo M, Krief ...

*List of MeSH codes (C18)

... hyperinsulinism MeSH C18.452.394.968.500 --- insulin resistance MeSH C18.452.394.968.500.570 --- metabolic syndrome x MeSH ... congenital MeSH C18.452.648.925.500 --- mineralocorticoid excess syndrome, apparent MeSH C18.452.648.925.750 --- ichthyosis, x- ...

*Glossary of diabetes

Hyperinsulinism Too high a level of insulin in the blood. This often involves a condition in which the body produces too much ... Congenital defect problems or conditions that are present at birth. Congestive heart failure heart failure caused by loss of ...

*List of OMIM disorder codes

GUCY2D Leber congenital amaurosis 10; 611755; CEP290 Leber congenital amaurosis 12; 610612; RD3 Leber congenital amaurosis 13; ... SLC16A1 Hyperinsulinism-hyperammonemia syndrome; 606762; GLUD1 Hyperkalemic periodic paralysis, type 2; 613345; SCN4A ... LRAT Leber congenital amaurosis 2; 204100; RPE65 Leber congenital amaurosis 3; 604232; SPATA7 Leber congenital amaurosis 4; ... congenital; 604219; BFSP2 Cataract, congenital, cerulean type, 3; 608983; CRYGD Cataract, congenital, X-linked; 302200; NHS ...
TY - JOUR. T1 - Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. AU - Lin, Yu Wen. AU - Bushman, Jeremy D.. AU - Yan, Fei Fei. AU - Haidar, Sara. AU - MacMullen, Courtney. AU - Ganguly, Arupa. AU - Stanley, Charles A.. AU - Shyng, Show-Ling. PY - 2008/4/4. Y1 - 2008/4/4. N2 - The inwardly rectifying potassium channel Kir6.2 is the pore-forming subunit of the ATP-sensitive potassium (KATP) channel, which controls insulin secretion by coupling glucose metabolism to membrane potential in β-cells. Loss of channel function because of mutations in Kir6.2 or its associated regulatory subunit, sulfonylurea receptor 1, causes congenital hyperinsulinism (CHI), a neonatal disease characterized by persistent insulin secretion despite severe hypoglycemia. Here, we report a novel KATP channel gating defect caused by CHI-associated Kir6.2 mutations at arginine 301 (to cysteine, glycine, histidine, or proline). These mutations in ...
TY - JOUR. T1 - Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism. T2 - Clinical and functional characterization of two novel ABCC8 mutations. AU - Faletra, Flavio. AU - Snider, Kara. AU - Shyng, Show-Ling. AU - Bruno, Irene. AU - Athanasakis, Emmanouil. AU - Gasparini, Paolo. AU - Dionisi-Vici, Carlo. AU - Ventura, Alessandro. AU - Zhou, Qing. AU - Stanley, Charles A.. AU - Burlina, Alberto. PY - 2013/3/1. Y1 - 2013/3/1. N2 - Congenital hyperinsulinism (CHI) occurs as a consequence of unregulated insulin secretion from the pancreatic beta-cells. Severe recessive mutations and milder dominant mutations have been described in the ABCC8 and KCNJ11 genes encoding SUR1 and Kir6.2 subunits of the beta-cell ATP-sensitive K(+) channel. Here we report two patients with CHI unresponsive to medical therapy with diazoxide. Sequencing analysis identified a compound heterozygous mutation in ABCC8 in both patients. The first one is a carrier for the known mild dominant ...
TY - CHAP. T1 - Hyperinsulinism of infancy. T2 - Localization of focal forms. AU - Hardy, Olga T.. AU - Stanley, Charles A.. PY - 2006. Y1 - 2006. N2 - Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and children (1). Infants with severe forms of the disorder (formerly termed nesidioblastosis) present with hypoglycemia in the newborn period and are at high risk of seizures, permanent brain damage, and retardation. Infants with congenital hyperinsulinism may have either focal or diffuse abnormalities of the pancreatic β cells. In cases with diffuse disease, an underlying defect in the β-cell adenosoine triphosphate (ATP)-dependent potassium channel may be present, caused by recessive loss of function mutations of the two genes encoding the KATP channel, SUR1 or Kir6.2 (1,2). These mutations may also cause focal hyperinsulinism in which there is an area of β-cell adenomatosis due to loss of heterozygosity for the maternal 11p region and expression of a ...
β cell failure in type 2 diabetes (T2D) is associated with hyperglycemia, but the mechanisms are not fully understood. Congenital hyperinsulinism caused by glucokinase mutations (GCK-CHI) is associated with β cell replication and apoptosis. Here, we show that genetic activation of β cell glucokinase, initially triggering replication, causes apoptosis associated with DNA double-strand breaks and activation of the tumor suppressor p53. ATP-sensitive potassium channels (KATP channels) and calcineurin mediate this toxic effect. Toxicity of long-term glucokinase overactivity was confirmed by finding late-onset diabetes in older members of a GCK-CHI family. Glucagon-like peptide-1 (GLP-1) mimetic treatment or p53 deletion rescues β cells from glucokinase-induced death, but only GLP-1 analog rescues β cell function. DNA damage and p53 activity in T2D suggest shared mechanisms of β cell failure in hyperglycemia and CHI. Our results reveal membrane depolarization via KATP channels, calcineurin signaling,
CHI is pumped to announce we will be participating in the first Million Dollar Bike Ride sponsored by The Penn Medicine Center for Orphan Disease Research and Therapy (CODRT) on May 3, 2014. This event will raise awareness of rare diseases while raising funds for rare disease research. Our team, the "Raring to Go for CHI" team will raise funds for congenital hyperinsulinism research. The Penn Center will match at least $25,000, potentially up to $50,000, so this is really a fantastic opportunity to raise funds for research. This summer there will be a request for proposals from CODRT and researchers all over the world will be able to apply for the funds we raise on May 3. CODRT will fully administer the grant. All money raised goes directly to the grant. All administrative fees are being paid for by CODRT out of their own budget. 100% of the funds we raise will go to the researcher selected for the grant. Our team will be riding alongside many other wonderful teams. By riding with our ...
Congenital Hyperinsulinism International (CHI) has developed a patient-reported registry called the HI Global Registry with its partners to improve the understanding of HI, and advance research for better treatments and patient care. The registry consists of a series of online surveys that asks the participant questions about the patients experience with the disorder over his or her lifetime. The data is stored on a secure cloud-based platform and made anonymous by removing any personal details that can identify the patient. This information is then combined with patient data from around the world to produce research reports that can be studied by disease experts and researchers. The HI Global Registry is open for registration now- click here to visit the registry website.. Patients and their legally authorized representatives will be able to participate in the HI Global Registry by registering online and consenting to participate in the study. After consenting, participants will be directed to ...
Congenital hyperinsulinaemic hypoglycaemia (HH) is characterised by the inappropriate secretion of insulin despite low blood glucose levels. Hyperinsulinism may be transient or permanent. Transient hyperinsulinism can occur in babies of diabetic mothers who have been exposed to maternal hyperglycaemia before birth. Babies who have sustained perinatal asphyxia and those with intrauterine growth restriction are also at increased…
in HI Hope Children with protein-sensitive hyperinsulinism (HI) will have low blood sugars (hypoglycemia) when they eat protein-rich foods, ensuring theyre getting enough carbs to offset the protein falls to parents and caregivers. ...
In June 2010, our family welcomed our long-awaited third child, Alexandra. But on the second day after she was born, Sasha had to go to intensive care - her blood sugar level had fallen drastically. Doctors diagnosed our daughter with an extremely rare genetic disease - organic hyperinsulinism, a disorder of the pancreas. Sasha had a complicated operation. She recovered quickly, all her indicators normalized. But a year later, she had an epileptic seizure with convulsions and loss of consciousness. We had our daughter examined at different hospitals, but doctors could not understand why it was happening. The attacks still go on to this day - about once every six months. They are hard on Sasha, she has problems breathing. My daughter is growing normally for her age, she is perseverant, obedient. We wrote to the Childrens Hospital of Philadelphia childrens hospital in Philadelphia. Doctors there told us that congenital hyperinsulinism can cause seizures, and that they know how to treat children ...
Bethesda MD A recent study in the Journal of Biological Chemistry co...Congenital hyperinsulinism is a group of genetic disorders that cause ...The majority of cases of congenital hyperinsulinism appear to be due t... The glutamate dehydrogenase mutations that cause hyperinsulinism are ...In order to understand how amino acids stimulate insulin and the role ...,Enzyme,defect,leads,to,hyperinsulinism,biological,biology news articles,biology news today,latest biology news,current biology news,biology newsletters
The Hyperinsulinism centre at Great Ormond Street Hospital has a specialist multi-disciplinary team of clinicians, surgeons, nurse specialists, clinical psychologist, researchers, dietician, speech and language therapist, social work and service coordinator ...
HH is the commonest cause of persistent and recurrent hypoglycaemia during the neonatal and infancy periods. Insulin inhibits gluconeogenesis and glycogenolysis and stimulates uptake of glucose in muscles and adipocytes, leading to hypoglycaemia. Moreover, insulin inhibits lipolysis and thereby ketone body synthesis. In effect, the brain of the baby with CHI is deprived of the primary (glucose) and secondary (ketones) energy sources due to inappropriately elevated insulin levels.. CHI is a genetically heterogeneous disease characterised by dysregulated insulin secretion from pancreatic β-cells (Fig. 1C). In the face of hypoglycaemia, infants with CHI have inappropriately elevated serum insulin, low ketone bodies, low fatty acids and show a glycaemic response to glucagon. Infants with CHI typically need a GIR of more than 8 mg/kg per min to maintain normoglycaemia (3). The incidence of sporadic forms of CHI is estimated at 1 in 40 000 live births, but in familial forms, it may be as high as 1 in ...
XOMA has built a significant portfolio of products that are licensed to and being developed by other biotechnology and pharmaceutical companies.  The Companys portfolio of partner-funded programs spans multiple stages of the drug…
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For children with congenital hyperinsulinism (CHI), low blood sugar is caused by cells in the pancreas that release too much insulin. Some children with CHI have these cells throughout their pancreas; others have them located in specific areas of the pancreas. Children who have them located in specific areas of the pancreas may be cured with surgery. F-DOPA is a radioactive drug that may go to these very cells. F-DOPA can also be used for positron emission tomography (or PET), an imaging technique used in nuclear medicine departments. In this study, researchers will test the possibility of using PET with F-DOPA in the diagnosis of children with hyperinsulinism ...
We report on 2 infants with PHHI for whom focal lesions of the pancreas were diagnosed during laparoscopy and laparoscopically enucleated. Both children were cured at the age of 1 month. One year after surgery, both patients are well and normoglycemic. Functional data from patient tissue analyses and genotyping in both cases revealed that PHHI was a consequence of defects in β-cell KATP channels. For both children, mutations in the SUR1 gene were found; the mutations were of paternal origin in both cases, as reported for focal hyperinsulinism. The focal origins of PHHI were confirmed with histologic diagnoses.. Focal adenomatous hyperplasia as a cause of PHHI was observed first by Kloppel et al7 in 1975 and was noted by Goossens et al8 in 1989 in a large study of 24 pancreata from surgically treated patients with PHHI. Since those observations, focal lesions as a cause of intractable hyperinsulinism have been consistently reported. The presumed incidence may be as high as 30% to 60% of cases of ...
The website for the Childrens Hyperinsulinism Charity | A site of support and resources for families and children living with congenital hyperinsulinism (CHI)
Nevan Elam, J.D. CEO and co-founder Rezolute, Inc. talks about their work developing therapeutics for congenital hyperinsulinism, a rare pediatric disease and for diabetic macular edema, a vision-related complication of diabetes.  With a background of working with technology businesses, Nevan reflects on lessons learned and differences in drivers of innovation in the computer and biotech worlds. @rezolutebio #RareDisease #PediatricDisease #DME #DiabeticMacularEdema #Diabetes #hyperinsulinism    
Our brother-sister team is so excited to participate in this year s Million Dollar Bike Ride and we are grateful for anything you can donate to our cause! A message from Ben: Every day of my life, since shortly after birth, my blood sugar has always had to be monitored because of congenital hyperinsulinism (HI). As a baby my body made far too much insulin and the only treatment at the time was removing my pancreas. I was so lucky to get great care and have this operation to remove my pancreas at the Children s Hospital of Philadelphia. This care and the surgery saved my brain and allowed me to live a healthy, wonderful life. However as a result of having my pancreas removed, I now have diabetes and take insulin through a pump. Since I was first diagnosed and treated as a baby, there have been improvements in care because of more knowledge and technology, but there needs to be more research so babies born with HI don t develop diabetes when they get older. As a college student, I have
Moreover, while most of the organs in the human body have the ability to store glucose by increasing their mass, the brain, prisoner of the cranial bones, cannot count on these variations in volume.. Unable to store its food, it depends on sugar supplied in real-time by the rest of the body. This distribution of energy is controlled by the liver.. Pierre Maechler, professor at the Faculty of Medicine at UNIGE, and his team therefore decided to verify if glutamate was indeed an energy source for the brain.. To do so, the researchers analyzed the role of the glutamate dehydrogenase enzyme in the brain. In mutant form, this enzyme, encoded by the Glud1 gene, is responsible for a congenital hyperinsulinism syndrome, a severe disease affecting at the same time the endocrine pancreas, the liver and the brain.. Individuals affected by this syndrome suffer from intellectual disability and have a high risk of epilepsy. ...
Helpful, trusted answers from doctors: Dr. Sneid on lupus low blood sugar: This is often a complication of diabetes therapy, and blood glucose management, but certain tumors, like insulinomas, among others, can cause this, and many of those patients have a family history of those tumors. Some others also have naturally low blood sugar, and that can be due to genetics. Congenital hyperinsulinism might be such a case, as might inborn errors of carbohydrate metabolism.
Stacy Michelle Harris, RN, BSN, is a case management coordinator in the Congenital Hyperinsulinism Center at Childrens Hospital of Philadelphia.
Primary hyperinsulinism is a rare but important cause of hypoglycemia in infants and children. It is the most common cause of neonatal hypoglycemia that persists beyond the first few hours of life.
This case is being reported because of the apparent rarity of the condition and the fairly typical clinical course exhibited. A review of the literature up to the time this paper was written revealed only 131 similar cases reported in man, seven of which had either lymph node or liver metastasis or both. This patient presented the usual clinical picture associated with hyperinsulinism.2 It is to be regretted that a biological assay for insulin was not made of the metastatic nodules in the liver, as has been shown by Powers and Wilder to be conclusive proof of the origin of ...
Josie will be 8 weeks old tomorrow and today she was diagnosed with hyperinsulinism. Shes had a hard time regulating her blood sugar and shes not gaining weight as quickly as the doctors would like. We have to do more testing to determine if there is a generic cause for it or if its related to the IUGR. They think it can be managed with medication but this diagnosis has bought us at least another 5 days in the NICU and when she comes home Ill have to check her blood sugar 2-3 times a day. Im just feeling so depressed and defeated at this point. Shes doing all the major things (breathing, eating, etc) but we just cant get past this blood sugar thing. Has anybody else experienced this with their IUGR baby? Even if you havent dealt with this, I could use some positivity right now. Shes so amazing and I feel like I just keep failing her
A summary of the clinical details and the results from PET scan, catheterization, and surgery for the 14 patients is presented in Table 1. Based on PVS, focal CHI was suspected in cases 1-3. Preoperative imaging by [18F]-DOPA PET was consistent with a focal form of disease in these three cases, and the suggested focus on PET matched with the location of high-insulin secretion detected by PVS (Tables 1 and 2). Encouraged by these positive findings, two additional patients (9 and 13) underwent successful pancreatic surgery based on focal lesions seen on PET only. All of these five focal cases were confirmed by histology obtained during surgery, and the localization of the hyperinsulinemic focus by the PET scan corresponded to the actual localization. In two patients, the focus was located in the head, in one patient in the neck, and in two patients in the body of the pancreas. All of these patients were normoglycemic, with a normal overnight fasting tolerance, without medications, and on normal ...
Little Stars Short Film Anastassias Story - Hope and Hyperinsulinism in infants dont be afraid things like this happen watch the film here to learn more
Per the USDA nutrition database, here are the lipid numbers on 100g of raw pork bacon vs 100g of olive oil.. Bacon:. 14.993g saturated. 20.047 monounsaturated. 4.821g polyunsaturated. Olive oil:. 13.808g saturated. 72.961g monounsaturated. 10.523g polyunsaturated. You can work out for yourself whether those are truly equivalent amounts, given that the bacon also has some protein in it and just a bare smidgen of carb (not even 1g).. The single largest source of nitrates in the human diet is vegetables. It seems that nitrates turn into nitric oxide in the human body. Nitric oxide is a vasodilator; this probably explains the reduction in blood pressure experienced by some people who add more vegetables to their diets.. Its interesting that people who adopt low-carb diets-simply a low-carb diet, with no consideration of how "Paleo" it is-oftentimes also experience reduction in blood pressure. Some of that is probably from the extreme reduction in digestible carb intake; hyperinsulinism appears to ...
Looking for online definition of alimentary hyperinsulinism in the Medical Dictionary? alimentary hyperinsulinism explanation free. What is alimentary hyperinsulinism? Meaning of alimentary hyperinsulinism medical term. What does alimentary hyperinsulinism mean?
For children with congenital hyperinsulinism (CHI), low blood sugar is caused by cells in the pancreas that release too much insulin. Some children with CHI have these cells throughout their pancreas (called diffuse disease); others have them located in specific areas of the pancreas (called focal disease). Children who have focal disease located in specific areas of the pancreas may be cured with surgery. F-DOPA is a radioactive drug that is picked up by these cells and used for positron emission tomography (or PET), an imaging technique used in nuclear medicine departments. In this study, researchers will validate the efficacy and safety of using PET/CT with F-DOPA in the pre-operative localization of focal disease in children with hyperinsulinism ...
Congenital hyperinsulinism of infancy (CHI) is a rare disorder characterized by severe hypoglycemia due to inappropriate insulin secretion. The genetic causes of CHI have been found in genes regulating insulin secretion from pancreatic β-cells; recessive inactivating mutations in the ABCC8 and KCNJ11 genes represent the most common events. Despite the advances in understanding the molecular pathogenesis of CHI, specific genetic determinants in about 50 % of the CHI patients remain unknown, suggesting additional locus heterogeneity. In order to search for novel loci contributing to the pathogenesis of CHI, we combined a family-based association study, using the transmission disequilibrium test on 17 CHI patients lacking mutations in ABCC8/KCNJ11, with a whole-exome sequencing analysis performed on 10 probands. This strategy allowed the identification of the potential causative mutations in genes implicated in the regulation of insulin secretion such as transmembrane proteins (CACNA1A, KCNH6, ...
Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks gestation with birth weight of 3.33 kg (−0.55 SDS) had typical phenotypical features of PS. She had recurrent hypoglycaemic episodes early in life requiring high concentration of glucose and glucagon infusion. The diagnosis of congenital hyperinsulinism (CHI) was biochemically confirmed by inappropriately high plasma concentrations of insulin and C-peptide and low plasma free fatty acids and β-hydroxyl butyrate concentrations during hypoglycaemia. Sequencing of ABCC8, KCNJ11 and HNF4A did not show any pathogenic mutation. Microarray analysis revealed a novel duplication in the short arm of chromosome 10 at 10p13-14 region. This is the first reported case of CHI in association with ...
This first of December, were recognizing World Aids Day by sharing the latest research from Childrens Hospital of Philadelphia investigators who partnered with the University of Pennsylvania, the University of Botswana, and the Botswana Ministry of Health through the Botswana-UPenn partnership, in order to address sub-Saharan Africas HIV/AIDS epidemic. Alongside their findings published last week, our news roundup also includes special congratulations to Diva De León-Crutchlow, MD, on a "sweet" new award from Congenital Hyperinsulinism International, and novel research findings from our investigators who study cardiology, genetics, and puberty. ...
This first of December, were recognizing World Aids Day by sharing the latest research from Childrens Hospital of Philadelphia investigators who partnered with the University of Pennsylvania, the University of Botswana, and the Botswana Ministry of Health through the Botswana-UPenn partnership, in order to address sub-Saharan Africas HIV/AIDS epidemic. Alongside their findings published last week, our news roundup also includes special congratulations to Diva De León-Crutchlow, MD, on a "sweet" new award from Congenital Hyperinsulinism International, and novel research findings from our investigators who study cardiology, genetics, and puberty. ...
Objective: Mutations in the human HNF4A gene encoding the hepatocyte nuclear factor 4 alpha (HNF-4α) are known to cause maturity-onset diabetes of the young (MODY), which is characterized by autosomal dominant inheritance and impaired glucose-stimulated insulin secretion from pancreatic β-cells. HNF-4α has a key role in regulating the multiple transcriptional factor networks in the islet. Recently heterozygous mutations in the HNF4A gene were reported to cause transient hyperinsulinaemic hypoglycaemia associated with macrosomia.. Research Design and Methods: Three infants presented with macrosomia and severe hypoglycaemia with a positive family history of MODY. The hypoglycaemia was confirmed to be due to hyperinsulinism and all three patients required diazoxide therapy to maintain normoglycaemia. Two of the three infants are still requiring diazoxide therapy at 8 and 18 months while one of them had resolution of hyperinsulinaemic hypoglycaemia at 32 months of age.. Results: Sequencing of the ...
Islet cell adenomas are an important consideration in infants and children with hypoglycemia due to hyperinsulinism. Between 1965 and 1977, 32 patients with hyperinsulinism were seen at the Childrens Hospital of Philadelphia. Sixteen of these patien
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On 31st May 2015, I will be skating a marathon at Goodwood race course,to raise money for the following two causes:. The Childrens Hyperinsulinism Fund. Helping children born with Congenital Hyperinsulinism, whose pancreas produces too much insulin and as a result cannot regulate their blood sugar. The HI fund raises money to support research into the condition, inclluding feeding difficulties, long-term neurological implications, and the consequences of medical treatment.. Big Bucks High Rollers. Roller derby team BBHR is playing in the regional south division of the British Championships in 2015, which means travelling fromour home in High Wycombe to such far-flung locales as Plymouth, Exeter, and Penzance. Money raised goes towards making the travel involved a littleless painful for everyone.. ...
Physician assistants and nurse practitioners use Clinical Advisor for updated medical guidance to diagnose and treat common medical conditions in daily practice.
There are many reasons for going either carb free or low carb. One may be that one is very susceptible to cancer, either because of a genetic propensity, or because of massive exposure to toxins or radiation. Another may be a severe, systemic candida overgrowth. Another may be hyperinsulinism (insulin resistance). Or one may just think its healthier not to overdose on carbs, even legal ones.. In any case, I wouldnt recommend going carb free during pregnancy (unless I were to learn more about it and find out its harmless), unless one is diabetic or has some other compelling reason. Elaine recommends making sure one has adequate legal carbs when pregnant, but its pretty easy to satisfy any possible requirement for carbs by eating a banana in yoghurt at one meal, and some berries at another, I would think. Certainly, two bananas a day would give one a very large (and more than adequate) dose of carbs, even for pregnancy.. The rationale for eating carbs during pregnancy is that one would ...
Introduction: Organic hyperinsulinism syndrome (OHS) is revealed in 85% cases of pancreas insulinoma. Nesidioblastosis (NB) induces OHS in 15% of the cases. Surgical cure provides all symptoms of insulinoma disappearing, while cytoreductive operation results in considerable improvement of life quality. There is no intraoperative opportunity to reveal insulinoma grade, even if an urgent biopsy is performed. Thus, it is essential to determine the cause of OHS and to apply the surgical cure method during the preoperational period, thereby improving the long-term prognosis ...
Little Stars - A Little Magic Unit - Guest Blog from Russian Childrens Palliative Care Foundation Annastasias Story of hope and hyperinsulinism.
Autoimmune pancreatitis (AIP) is a rare cause of recurrent acute pancreatitis or chronic pancreatitis in middle-aged patients, and is characterised by a marked infiltration of lymphocytes and plasma cells in pancreatic tissue. Diagnosis of focal forms can be difficult as AIP may mimic pancreatic adenocarcinoma. Pediatric cases of AIP are exceptional. We report the case of a 15-year-old girl who had a focal AIP and associated cholangitis, with a very unusual vascularized mass that mimicked a pancreatic endocrine tumor. The diagnosis was obtained by a pancreatic biopsy, thus avoiding surgical resection, and all the clinical, biological and radiological abnormalities resolved after steroid therapy with 6 mo of follow-up.
Hyperalgesia (/ˌhaɪpərælˈdʒiziə/ or /-siə/; hyper from Greek ὑπέρ (huper, "over"), -algesia from Greek algos, ἄλγος (pain)) is an increased sensitivity to pain, which may be caused by damage to nociceptors or peripheral nerves. Prostaglandins E and F are largely responsible for sensitizing the nociceptors. Temporary increased sensitivity to pain also occurs as part of sickness behavior, the evolved response to infection. Hyperalgesia can be experienced in focal, discrete areas, or as a more diffuse, body-wide form. Conditioning studies have established that it is possible to experience a learned hyperalgesia of the latter, diffuse form. The focal form is typically associated with injury, and is divided into two subtypes: Primary hyperalgesia describes pain sensitivity that occurs directly in the damaged tissues. Secondary hyperalgesia describes pain sensitivity that occurs in surrounding undamaged tissues. Opioid-induced hyperalgesia may develop as a result of long-term ...
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PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Idiopathic hypoglycemia is, literally, a medical condition in which the glucose level in the blood (blood glucose) is abnormally low due to an undeterminable cause. This is considered an incomplete and unsatisfactory diagnosis by physicians and is rarely used by endocrinologists, as it implies an unfinished diagnostic evaluation. In general, the more severe the hypoglycemia and the more clearly it is proven, the less likely it is to remain "idiopathic". Idiopathic hypoglycemia can also be a synonym for reactive hypoglycemia or for hypoglycemia that is not diagnosed by a physician and does not fulfill the Whipple triad criteria. A more precise term for that condition is idiopathic postprandial syndrome. Hyperinsulinism Perry, Julian C.; Bourne, Blanche; Lester Henry, W. (January 1957). "Idiopathic Hypoglycemia in Childhood: Report of a Case". Journal of the National Medical Association. 49 (1): 29-32. ISSN 0027-9684. PMC 2641125 . PMID 13385682 ...
Aim: To analyse patients those admitted to our clinic due to perforation in duodenum. Patients and Method: Fourteen patients those have been admitted to our center with perforation in duodenum between 1990 2014 analysed retrospectively. Results: Ten patients (8M, 6F) those have been admitted to our clinic between 1990 2014 have a mean age of 6.2 years (25 days 16 years). Two of cases admitted directly to our clinic and the rest refered from another hospitals. Mean time for appliance to our clinic was 3.2 days ( 1day 1 week). Ulcer in duodenum was the cause of perforation in 10 cases while in 3 the cause was trauma and in 1 case was surgical complication of infantyl persistant hyperinsulinism (IPHH). The case with hyperbilluribinemia after near total pancreatectomy due to IPHH had been explored and perforation in deuedenum diagnosed. Resection in first two parts of duodenum and pylor, choledochojejunostomy, gastrojejunostomy and jejunojejunostomy was performed. Primary repair was performed in the ...
Kallikreins;Diabetes Mellitus, Experimental;Insulin;Hyperinsulinism;Kidney;Insulin, Isophane;Trypsin Inhibitors;Soybean Proteins;Enzyme Activation;Enzyme Precursors;Rats, Sprague-Dawley;Models, ...
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OR resistance/height2[All Fields] OR resistance/high[All Fields] OR resistance/homeostasis[All Fields] OR resistance/hyperglycemia[All Fields] OR resistance/hyperinsulinaemia[All Fields] OR resistance/hyperinsulinemia[All Fields] OR resistance/hyperinsulinemia/hyperglycemia[All Fields] OR resistance/hyperinsulinemic[All Fields] OR resistance/hyperinsulinism[All Fields] OR resistance/hyperlipidaemia[All Fields] OR resistance/hypersensitivity[All Fields] OR resistance/hypersusceptibility[All Fields] OR resistance/hypertension[All Fields] OR resistance/hypertriglyceridemia[All Fields] OR resistance/immunity[All Fields] OR resistance/impact[All Fields] OR resistance/impaired[All Fields] OR resistance/impedance[All Fields] OR resistance/inflammation[All Fields] OR resistance/inhibition[All Fields] OR resistance/innate[All Fields] OR resistance/insensitivity[All Fields] OR resistance/inspiratory[All Fields] OR resistance/insulinemia[All Fields] OR resistance/intermediate[All Fields] OR ...
Cho, K.J., Vinik, A.I., Thompson, N.W., Schieids, J.J., Porter, D.J., Brady, T.M., Cadavid, G., Fajans, S.S.: Localization of the source of hyperinsulinism: Percutaneous transhepatic portal and pancreatic vein catheterization with hormone assay. Am. J. Roentgenol.139:237, ...
Service FJ, Natt N, Thompson GB, et al. Noninsulinoma pancreatogenous hypoglycemia: a novel syndrome of hyperinsulinemic hypoglycemia in adults independent of mutations in Kir6.2 and SUR1 genes. J Clin Endocrinol Metab 1999;84:1582-1589PubMedCrossRefGoogle Scholar ...
Ive been experimenting with various nymph patterns for larger mayfly hatches such as Brown Drakes and Isos. These nymphs are different than the usual mayfly nymphs I tie in that they are quite a bit larger and they also have a lot movement. Im wondering what you all recommend in terms of pattern types. It seems like Ive seen several alternatives: -- Nymph tied on long shank hook -- Nymph tied on short hook with extended furled body -- Nymph tied on short hook with extended marabou
Insulin secretory function and survival of pancreatic β cells are intimately linked to nutrient availability and its sensing (Efeyan et al., 2015). Here, we report that mice lacking mTOR, a common nutrient-sensing component of mTORC1 and mTORC2, in β cells exhibited glucose intolerance, insulin resistance, a decrease in β cell mass, and an increase in β cell death. These results suggest that impaired glucose homeostasis is connected to a defect in β cell survival caused by mTOR deficiency. On the other hand, TSC2 deficiency in β cells, which leads to constitutive activation of mTORC1 signaling, results in a decrease in blood glucose levels, hyperinsulinemia, and improved glucose tolerance, which is the opposite phenotype of mTOR-deficient mice (Rachdi et al., 2008). Conversely, rapamycin and other mTORC1 inhibitors such as sirolimus, everolimus, and zatarolimus have been used to treat chronic diseases like cancer, hyperinsulinism, tuberous sclerosis complex, and lymphangioleiomyomatosis ...
Organic hyperinsulinism has been recognized with increasing frequency in the last few years. It is most commonly due to adenomata of the islands of Langerhans. More and more case reports appear of successful surgical removal of these tumors with consequent alleviation of symptoms. At times there seems to be a general hypersecretion of insulin by the islet cells without discernible tumor in which resection of varying amounts of pancreatic tissue has been found effective. Carcinoma of islet cells occurs much less frequently. In these cases the tumor is often slow to grow and slow to metastasize. In a few instances ...
This syndrome is marked by an unpleasant crawling or aching sensation in the lower legs, between the knee and the ankle, often accompanied by restlessness in other parts of the body, especially in the flexor muscles of the arms and legs. The discomfort appears only at rest and elicits an irresistible need to move the limbs. It generally appears in the evening and early night and may be associated with severe insomnia.1. While, as usual, most of the research is preliminary, the results of studies investigating the effects of nutrients on restless legs syndrome (RLS) suggest that it has several causes, and that patient-specific dietary changes, nutrient repletion and nutrient pharmacotherapy are often effective treatments. Dietary Factors. Based on afternoon glucose tolerance testing, many patients with RLS, particularly if they also have spontaneous leg cramps, appear to have hyperinsulinism causing functional hypoglycemia during testing, in fact, occasional patients may have an attack of ...
Girls with a history of premature pubarche, i. e. appearance of pubic hair before 8 years of age, show hyperinsulinism in response to an oral glucose tolerance test. As hyperinsulinaemia has a major r
Background:Hyperinsulinaemic hypoglycaemia (HH) is a potentially lethal disease caused by over functioning beta cells derived from the pancreatic islets of Langerhans. Lethal HH and brain damage is a problem especially in infants with congenital HH. Current therapeutic approaches are associated with severe side effects/morbidity (diabetes, exocrine pancreas insufficiency etc.) considered acceptable in relation to the lethal outcome of HH although massively reducing quality of life and also life ...
hyperinsulinaemic definition: Adjective (comparative more hyperinsulinaemic, superlative most hyperinsulinaemic) 1. (pathology) Of, pertaining to, or having hyperinsulinaemia ...
Exhibits endopeptidase activity. Involved in negative regulation of apoptotic signaling pathway; proteolysis; and regulation of autophagy of mitochondrion. Localizes to the mitochondrial inner membrane. Used to study Leigh disease. Human ortholog(s) of this gene implicated in Leber hereditary optic neuropathy; coronary artery disease; hyperinsulinism; myopia; and type 2 diabetes mellitus. Orthologous to human PARL (presenilin associated rhomboid like ...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Median HbA1c was 6.9% in patients with the GCK mutation, 5.8% in controls, and 7.8% in patients with YT2D. Patients with GCK had a low prevalence of clinically significant microvascular complications (1% [95% CI, 0%-5%]) that was not significantly different from controls (2% [95% CI, 0.3%-8%], P=.52) and lower than in patients with YT2D (36% [95% CI, 25%-47%], P,.001). Thirty percent of patients with GCK had retinopathy (95% CI, 21%-41%) compared with 14% of controls (95% CI, 7%-23%, P=.007) and 63% of patients with YT2D (95% CI, 51%-73%, P,.001). Neither patients with GCK nor controls required laser therapy for retinopathy compared with 28% (95% CI, 18%-39%) of patients with YT2D (P,.001). Neither patients with GCK patients nor controls had proteinuria and microalbuminuria was rare (GCK, 1% [95% CI, 0.2%-6%]; controls, 2% [95% CI, 0.2%-8%]), whereas 10% (95% CI, 4%-19%) of YT2D patients had proteinuria (P,.001 vs GCK) and 21% (95% CI, 13%-32%) had microalbuminuria (P,.001). Neuropathy was rare ...
DISCUSSION It has become evident, since the 80s, that ovarian function is not regulated only by the hypophyseal gonadotrophins, but is also influenced by action of other hormones and growth factors17. Among these, insulin and IGF-1 have been the most extensively studied. The first data about this association have been known since 1921 with the so-called Archard-Thiers Syndrome, or bearded diabetes, where raised serum insulin levels and hyperandrogenism have been associated. There have also been frequent reports associating conditions of marked insulin resistance, and therefore hyperinsulinism, with exacerbated gonadal activity, such as premature puberty and hirsutism. Conversely, insulin-dependent diabetic patients, i.e., hypoinsulinemic, frequently present late menarche and sexual infantilism7. The association between hyperinsulinism and PCOS was clarified by Burghen et al.8 These researchers suggested that raised testosterone levels were a consequence of the direct stimulatory effect of ...
Dr. Harris was awarded the 1949 Distinguished Service Medal of the American Medical Association. Dr. Seale Harris was born on March 13, 1870 and was raised in a large, loving family in Cedartown, Georgia "where the golden rule was the law of the home." Dr. Harris received his M.D. from the University of Virginia and made an amazing career in medicine, notably his work revealing hyperinsulinism.. So, we honor Dr. Seale Harriss memory and groundbreaking work with this annual day to bring about greater awareness of hypoglycemia and the blood sugar roller coaster. 2020 is also the 40th anniversary of the founding of the Hypoglycemia Support Foundation.. ...
To help you better understand this condition, a quick historical look is in order. Hypoglycemia was discovered in 1924 by Seale Harris, M.D., a year after the Canadian physician Frederick Banting, M.D., received a Nobel Prize for finding a way to extract the hormone insulin, which could help diabetics control the abnormal amounts of sugar in their blood.. Dr. Harris, a professor of medicine at the University of Alabama, observed that many people who were not diabetic and not taking insulin were also experiencing symptoms of insulin shock, which was at the time believed to be only caused by an insulin overdose. But he found that these non diabetic people also were having an insulin overdose, which sent their blood sugar plummeting, leading to low levels of glucose in their blood.. In other words, Dr. Harris discovered that a diabetics dilemma (under-production of insulin) has a complementary problem: hyperinsulinism (excessive insulin in the blood). He officially reported his discovery, ...
As far as I am concerned AN is the cutaneous manifestation of hyperinsulinism or insulin resistance. For starters I would get a very good family history for type 2 diabetes, PCOS, hirsutism, infertility, irregular menses, and obesity. You described her very politely as "chunky" but what is her BMI? The way I would document her degree of insulin resistance/carbohydrate tolerance is by doing a 2 hr oral glucose tolerance test with samples at 0, 30, 60, 90 and 120 minutes for BOTH insulin and glucose. At the 0 sample, since she will be fasting, I would also get cholesterol, LDLdirect, triglycerides and HDL(many of these children have the dyslipidemia associated with metabolic syndrome which is elevated TG and low HDL). The best treatment for insulin resistance, but the most difficult to achieve, is a healthier lifestyle, lots of fresh fruits and veggies, healthy oils, fat free milk, no fast food, no soda or other sugar sweetened beverages and juice limited to 4-6 oz/day. We also recommend limiting ...
Dr. Bennett is professor of pathology and laboratory medicine at the University of Pennsylvania and director of the metabolic disease laboratory at The Childrens Hospital of Philadelphia. He also holds the Evelyn Willing Bromley Endowed Chair in Clinical Laboratories and Pathology at The Childrens Hospital of Philadelphia. The main focus of Dr. Bennetts research has been the investigation of inborn errors of mitochondrial energy metabolism with a special emphasis on disorders of fatty acid metabolism. He was among the first to describe the fatal clinical phenotype and the first to identify neonatal metabolite abnormalities in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. These observations led to the expansion of newborn screening by tandem mass spectrometry, in which most newborns are now screened for MCAD deficiency and a number of other inborn errors of metabolism. He is currently studying the hyperinsulinism associated with deficiency of short-chain L-3-hydroxyacyl-CoA ...
This study is the first to demonstrate the critical role of a dystrophin isoform for the targeting and subcellular distribution of a potassium channel in glial cells. Our immunocytochemical and electrophysiological results demonstrate that functional expression of the dystrophin isoform Dp71 is necessary for the highly asymmetric expression of the inwardly rectifying potassium channel Kir4.1 in the main glial cell type in retina, the Müller cells.. Genetic inactivation of the weakly inwardly rectifying potassium channel Kir4.1 in mice demonstrated that this particular Kir subunit sets the membrane potential in Müller cells and underlies the main potassium conductance in these cells (Kofuji et al., 2000). Such marked asymmetric and clustered distribution of Kir4.1 subunits in these specialized glial cells has presumably the important physiological function of promoting the efficient buffering of extracellular potassium concentration in the retina (Newman et al., 1984). Although the cellular ...
Gene Construction KitO brings intuitive productivity to the molecular biology researchers MAC allowing effortless manipulation of DNA either graphically or as sequence text GCK eliminates tedious examination of sequence data by automatically
ATP-sensitive K (K) channels in pancreatic β-cells couple glucose metabolism to insulin secretion. Reduced K channel activity produces excessive insulin release and hyperinsulinism whereas increased K channel activity leads to lower insulin secretion and diabetes. Paradoxically, mice with genetic deletion of K channels, or loss-of-function mutations, are only transiently hypoglycaemic during the neonatal period and often display reduced glucose-stimulated insulin secretion subsequently. Mice with K channel gain-of-function mutations are hyperglycaemic and have impaired glucose-stimulated insulin secretion, a phenotype that accurately mimics human diabetes. This review discusses how mice expressing altered K channels have provided valuable insight into β-cell function. © 2013 Elsevier Ltd. All rights reserved.
Diabetesgenes.org aims to provide information for patients and professionals on research and clinical care in genetic types of diabetes.Please select the tabs on the left for more information on Making a Diagnosis of Monogenic Diabetes, Maturity Onset Diabetes of the Young (MODY), Neonatal Diabetes, Renal Cysts and Diabetes, Hyperinsulinism or choose Exeter Research if you would like information about our current projects or individual researchers.This website is run by the Diabetes Research department and the Centre for Molecular Genetics at the University of Exeter Medical School and Royal Devon and Exeter Hospital, Exeter, UK ...
Acetone, acetoacetate and beta-hydroxybutyrate are ketones (or ketone bodies) generated from carbohydrates, fatty acids and amino acids in humans and most vertebrates. Ketones are elevated in blood after fasting including a night of sleep, and in both blood and urine in starvation, hypoglycemia due to causes other than hyperinsulinism, various inborn errors of metabolism, and ketoacidosis (usually due to diabetes mellitus). Although ketoacidosis is characteristic of decompensated or untreated type 1 diabetes, ketosis or even ketoacidosis can occur in type 2 diabetes in some circumstances as well. Acetoacetate and beta-hydroxybutyrate are an important fuel for many tissues, especially during fasting and starvation. The brain, in particular, relies heavily on ketone bodies as a substrate for lipid synthesis and for energy during times of reduced food intake. At the NIH, Dr. Richard Veech refers to ketones as "magic" in their ability to increase metobolic efficiency, while decreasing production of ...
As far as I am concerned AN is the cutaneous manifestation of hyperinsulinism or insulin resistance. For starters I would get a very good family history for type 2 diabetes, PCOS, hirsutism, infertility, irregular menses, and obesity. You described her very politely as "chunky" but what is her BMI? The way I would document her degree of insulin resistance/carbohydrate tolerance is by doing a 2 hr oral glucose tolerance test with samples at 0, 30, 60, 90 and 120 minutes for BOTH insulin and glucose. At the 0 sample, since she will be fasting, I would also get cholesterol, LDLdirect, triglycerides and HDL(many of these children have the dyslipidemia associated with metabolic syndrome which is elevated TG and low HDL). The best treatment for insulin resistance, but the most difficult to achieve, is a healthier lifestyle, lots of fresh fruits and veggies, healthy oils, fat free milk, no fast food, no soda or other sugar sweetened beverages and juice limited to 4-6 oz/day. We also recommend limiting ...
For example, frank chapman, d.O., and louise ferris-smith, d.O., in the s ,. Anterior and b. Success of the nail as well, although the depth of viagra manchester boots the. This has occurred with a presumed bacterial source can be an immediate basis in animal models., hypothermia also reducs levels of the quality of life. The immune response to immobility an accelerated aging response, in addition to the shifting center of rotation within the home been tested and palpates over the anterolateral system. Subject selection for many reasons a child in the anterior compartment syndrome. The discs act as potential triggers. Wb saunders co., . Pitman mi, peterson l. Biomechanics of the distal third of patients with thoracic sympathetic ganglia. The primary treatment of nonepileptic seizures in children risk assessment study.. viagra low cos J infect dis j , clark w, odonovan d transient hyperinsulinism in infants younger then two months through years of age precludes nasotracheal intubation may viagra ...
Post gastric bypass illness/or surgically caused disease is a full time job 24x7x365. Ive struggled with this since 2003 and ONLY recently for the first time, I realized I am not ALONE and that this has a name. The day I first wrote in this blog I knew ... and have come to grips within my own understanding - like you ... my OWN that there is something dramatically wrong - that traditional medicine will not and has not been addressing via my health care plan as related to my Rny gastric bypass not for my lack of trying but for their refusal to recognize this for what it is and provide ongoing help and or medical support post the RnY gastric bypass. I lost the quality of my life but now I fear I am slowly dying as well from the complications. (Do you feel the same way?) That one day I will pass out and or not wake up ... I struggle daily trying to keep ahead of the issues with the low blood sugars and a host of "other" ongoing problems with malnutrition, anemia, chronic dehydration and other ...
Assess whether the use of calcium cyanamide as a fertiliser may pose an unacceptable risk to human health and/or the environment. The report should take into account information in the REACH registration dossier for the substance, in the SCHER opinion and in dossiers submitted for other regulatory processes (e.g. under the Biocidal Products Regulation and the Plant Protection Products Regulation3 ...

Familial focal congenital hyperinsulinism.  - PubMed - NCBIFamilial focal congenital hyperinsulinism. - PubMed - NCBI

Familial focal congenital hyperinsulinism.. Ismail D1, Smith VV, de Lonlay P, Ribeiro MJ, Rahier J, Blankenstein O, Flanagan SE ... Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia. Histologically, there are two subgroups, diffuse and ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/20943779

Surgery for Congenital Hyperinsulinism | SpringerLinkSurgery for Congenital Hyperinsulinism | SpringerLink

Our multidisciplinary approach to patients with congenital hyperinsulinism can distinguish focal from diffuse disease, localize ... Surgery for Congenital Hyperinsulinism. In: De León-Crutchlow D., Stanley C. (eds) Congenital Hyperinsulinism. Contemporary ... Surgical management of congenital hyperinsulinism of infancy. Semin Pediatr Surg. 2011;20:50-3.CrossRefGoogle Scholar ... Congenital hyperinsulinism and the surgeon: lessons learned over 35 years. J Pediatr Surg. 1999;34:786-92.CrossRefGoogle ...
more infohttps://link.springer.com/chapter/10.1007%2F978-3-030-02961-6_9

Congenital hyperinsulinism | Great Ormond Street HospitalCongenital hyperinsulinism | Great Ormond Street Hospital

Medical information on Hyperinsulinism from Great Ormond Street Hospital. ... Congenital hyperinsulinism. Congenital hyperinsulinism. This page explains about congenital hyperinsulinism (CHI), which is ... Congenital hyperinsulinism F0129 A5 col FINAL Aug19.pdf. Congenital hyperinsulinism leaflet (1.35 MB) ... What is congenital hyperinsulinism (CHI)?. Congenital hyperinsulinism is characterized by inappropriate and unregulated insulin ...
more infohttps://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/hyperinsulinism

Congenital Hyperinsulinism Center News and Updates | Childrens Hospital of PhiladelphiaCongenital Hyperinsulinism Center News and Updates | Children's Hospital of Philadelphia

Congenital Hyperinsulinism Center News and Updates. 1 - 10 of 42. Hyperinsulinism: Its Not Transient Neonatal Hypoglycemia ... and showed signs of congenital hyperinsulinism. His family traveled to the Congenital Hyperinsulinism Center at CHOP for care. ... CHOP Doctor Awarded the Congenital Hyperinsulinism International "Be My Sugar" Award for Medical Excellence Published on Nov 20 ... The event gathered patients, families and providers who have been affected by or treat congenital hyperinsulinism. ...
more infohttps://www.chop.edu/centers-programs/congenital-hyperinsulinism-center/news

Congenital hyperinsulinism - WikipediaCongenital hyperinsulinism - Wikipedia

Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by ... "congenital hyperinsulinism". Genetics Home Reference. Retrieved 2016-10-07. Hussain, K. (August 2005). "Congenital ... James, C.; Kapoor, R. R.; Ismail, D.; Hussain, K. (1 May 2009). "The genetic basis of congenital hyperinsulinism". Journal of ... "Orphanet: Congenital isolated hyperinsulinism". www.orpha.net. Retrieved 2017-01-29. "OMIM Entry - # 602485 - HYPERINSULINEMIC ...
more infohttps://en.wikipedia.org/wiki/Congenital_hyperinsulinism

New Review Shows Benefits of Surgery for Congenital Hyperinsulinism | Childrens Hospital of PhiladelphiaNew Review Shows Benefits of Surgery for Congenital Hyperinsulinism | Children's Hospital of Philadelphia

A review of nearly 500 cases of different types of congenital hyperinsulinism shows that surgeons can cure virtually all ... New Review Shows Benefits of Surgery for Congenital Hyperinsulinism. At CHOP, the Premier Center for Treating All Types of HI, ... A review of nearly 500 cases of infants with severe congenital hyperinsulinism (HI) who underwent partial or near-total removal ... "Over the course of the past two decades, the Congenital Hyperinsulinism Center at CHOP has taken a multidisciplinary approach ...
more infohttps://www.chop.edu/news/new-review-shows-benefits-surgery-congenital-hyperinsulinism

Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism | ADC Fetal & Neonatal EditionHypertrophic cardiomyopathy in neonates with congenital hyperinsulinism | ADC Fetal & Neonatal Edition

Infants with congenital hyperinsulinism have excessive prenatal and postnatal insulin secretion due to defects in pathways of ... Methods Retrospective chart review of infants, age ,3 months, with congenital hyperinsulinism managed by Childrens Hospital of ... Ten had HCM, all of whom required pancreatectomy and eight of whom had confirmed ATP-sensitive potassium-hyperinsulinism. ... Discussion HCM appears common in infants with severe hyperinsulinism. Routine echocardiogram and EKG of at-risk newborns should ...
more infohttps://fn.bmj.com/content/98/4/F351

Congenital hyperinsulinism             | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramCongenital hyperinsulinism | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Congenital hyperinsulinism ... Congenital hyperinsulinism Información en español Title Other Names:. Persistent hyperinsulinemic hypoglycemia of infancy; PHHI ... Hyperinsulinism congenital; Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia; CHI; Familial hyperinsulinism; ... Congenital. hyperinsulinism is a disease where there are abnormally high levels of insulin, a hormone. produced by the beta ...
more infohttps://rarediseases.info.nih.gov/diseases/3947/familial-hyperinsulinism

Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism - Full Text View - ClinicalTrials.govEffect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism - Full Text View - ClinicalTrials.gov

Hyperinsulinism. Congenital Hyperinsulinism. Glucose Metabolism Disorders. Metabolic Diseases. Pancreatic Diseases. Digestive ... Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism. The safety and scientific validity of ... Congenital Hyperinsulinism Drug: Exendin-(9-39) Other: Vehicle Phase 1 Phase 2 ... Genetics Home Reference related topics: Congenital hyperinsulinism Genetic and Rare Diseases Information Center resources: ...
more infohttps://clinicaltrials.gov/ct2/show/NCT00571324

JCI -
In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates...JCI - In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates...

Congenital hyperinsulinism (CHI) is the major cause of persistent hypoglycemia in newborns and infants (1, 2). The underlying ... James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet. 2009;46(5):289-299. ... ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. J Med Genet. 2010; ... Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies. J Clin Endocrinol. 2007;67(1):115- ...
more infohttps://www.jci.org/articles/view/58400

Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital...Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital...

... fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism.. [18F]FDOPA PET ...
more infohttp://goldminer.arrs.org/link.php?id=444051

Collaborative Alliance on Congenital Hyperinsulinism: Treating CHICollaborative Alliance on Congenital Hyperinsulinism: Treating CHI

Systematic treatment aims to prevent irreversible damage to the brain. Intensive medical procedures include continual central venous glucose intake (, 8-25mg/kg*min) and glucagon infusions in order to release the body´s own glucose reserves. Other available medications are diazoxide (brand name: Proglicem) and somatostatin. A carbohydrate-rich diet suffices in some cases to attain stable blood glucose above 3.0 mmol/l, i.e. 55 mg/dl. Focal form CHI is present in about 40% of affected infants. A lesion confined to an area usually smaller than 1 cm is the cause of the most severe persistent hypoglycemias. The child can be cured permanently if this focus is properly detected and removed. Success in operating on the focal form depends on good team work between the nuclear medicine specialist/radiologist, pathologists and surgeons. Sonography is also of value for intraoperative tissue differentiation. ...
more infohttp://www2.medizin.uni-greifswald.de/ki_chir/index.php?id=551&L=1

Congenital Hyperinsulinism | Hyperinsulinism GenesCongenital Hyperinsulinism | Hyperinsulinism Genes

Hyperinsulinism may be transient or permanent. Transient hyperinsulinism can occur in babies of diabetic mothers who have been ... Congenital hyperinsulinaemic hypoglycaemia (HH) is characterised by the inappropriate secretion of insulin despite low blood ... Congenital Hyperinsulinism. Congenital hyperinsulinaemic hypoglycaemia (HH) is characterised by the inappropriate secretion of ... Hyperinsulinism may be transient or permanent. Transient hyperinsulinism can occur in babies of diabetic mothers who have been ...
more infohttps://hyperinsulinismgenes.org/congenital-hyperinsulinism/

The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study | Orphanet Journal of Rare Diseases |...The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study | Orphanet Journal of Rare Diseases |...

Congenital hyperinsulinism (CHI) is a rare, genetic disease which causes persistent hypoglycaemia, typically in new-borns. ... The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study. *Sana Eljamel1. na1, ... Congenital hyperinsulinism (CHI) is a rare, genetic disease which causes persistent hypoglycaemia, typically in new-borns. ... Congenital hyperinsulinism (CHI) is a rare, genetic disease characterised by excessive and unregulated insulin secretion from ...
more infohttps://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0867-6

Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different...Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different...

... only limited data on long-term medical treatment in congenital hyperinsulinism (CHI) is available. Moreover, most of the drugs ... Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis. 2011;6:63. doi:10.1186/1750-1172-6-63 ... Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism. J Pediatr. 1993;123(4):637-43.View ... Congenital hyperinsulinism (CHI) is a heterogeneous disorder leading to increased, often unregulated secretion of insulin from ...
more infohttps://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0367-x

The HI Global Registry | Congenital Hyperinsulinism InternationalThe HI Global Registry | Congenital Hyperinsulinism International

Congenital Hyperinsulinism International (CHI) has developed a patient-reported registry called the HI Global Registry with its ... The HI Global Registry (HIGR) is the first global patient-powered congenital hyperinsulinism (HI) patient registry. Many years ... The project is sponsored by Congenital Hyperinsulinism International and governed by a group of internationally recognized HI ...
more infohttps://congenitalhi.org/higlobalregistry/

XOMA Establishes Proof-of-Concept for 358 in Congenital Hyperinsulinism and Hypoglycemia Post-Bariatric Surgery :: XOMA...XOMA Establishes Proof-of-Concept for 358 in Congenital Hyperinsulinism and Hypoglycemia Post-Bariatric Surgery :: XOMA...

About Congenital Hyperinsulinismi,ii,iii. Congenital Hyperinsulinism (CHI) is a genetic disorder in which the insulin-secreting ... i Congenital hyperinsulinism. National Institutes of Health website. ghr.nlm.nih.gov/condition/congenital-hyperinsulinism. ... ii Congenital Hyperinsulinism. Childrens Hospital of Philadelphia website. www.chop.edu/conditions-diseases/congenital- ... hyperinsulinism/about#.VXncFU3bKHt. Accessed January 31, 2017.. iii Arnoux et al.: Congenital hyperinsulinism: current trends ...
more infohttps://investors.xoma.com/news-events/press-releases/detail/305/xoma-establishes-proof-of-concept-for-358-in-congenital

Raring to Go for CHI! | Congenital Hyperinsulinism InternationalRaring to Go for CHI! | Congenital Hyperinsulinism International

Born with congenital hyperinsulinism, Leo is a wonderful young man in his twenties with a passion for writing about food ... Our team, the "Raring to Go for CHI" team will raise funds for congenital hyperinsulinism research. The Penn Center will match ... or quality of life for those affected by congenital hyperinsulinism. The grant will be awarded to a researcher anywhere in the ...
more infohttps://congenitalhi.org/raring-to-go-for-chi/

Congenital Hyperinsulinism Disorders: Genetic and Clinical Characteristics - PubMedCongenital Hyperinsulinism Disorders: Genetic and Clinical Characteristics - PubMed

Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in ... Congenital Hyperinsulinism Disorders: Genetic and Clinical Characteristics Elizabeth Rosenfeld 1 , Arupa Ganguly 2 , Diva D De ... Congenital Hyperinsulinism Disorders: Genetic and Clinical Characteristics Elizabeth Rosenfeld et al. Am J Med Genet C Semin ... Genetic characteristics of patients with congenital hyperinsulinism. Vajravelu ME, De León DD. Vajravelu ME, et al. Curr Opin ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=phg&id=37267

NAVER Academic | The surgical management of atypical forms of congenital hyperinsulinismNAVER Academic | The surgical management of atypical forms of congenital hyperinsulinism

In case of hyperinsulinism caused by a mosaic, our experience suggests the benefit of a limited resection from the tail to the ... We define 2 subtypes among these atypical forms of hyperinsulinism: in case of a giant focal form the surgical strategy is the ... Beyond the 2 classical forms of congenital hyperinsulinism, focal and diffuse, we report our experience on the surgical ... Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of β-cells. (2013) ...
more infohttps://academic.naver.com/article.naver?doc_id=67239779

Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism.  - PubMed - NCBIFeeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism. - PubMed - NCBI

Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism.. Banerjee I1, Forsythe L2, Skae M3, ... Congenital hyperinsulinism (CHI) is a rare but severe disorder of hypoglycemia in children, often complicated by brain injury. ... Severe hyperinsulinism, rather than nasogastric tube feeding or medications, is the main factor associated with FPs. ... These observations suggest that persistence of hyperinsulinism was associated with FPs. ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=huge&id=125693

Morphologic analysis of focal and diffuse forms of congenital hyperinsulinism.

 | DIAL.pr - BOREALMorphologic analysis of focal and diffuse forms of congenital hyperinsulinism. | DIAL.pr - BOREAL

Morphologic analysis of focal and diffuse forms of congenital hyperinsulinism.. In: Seminars in Pediatric Surgery, Vol. 20, no ... Morphologic analysis of focal and diffuse forms of congenital hyperinsulinism. Primary tabs. *Détail(active tab) ... Congenital hyperinsulinism is clinically characterized by an inappropriate insulin secretion resulting in recurrent severe ...
more infohttps://dial.uclouvain.be/pr/boreal/object/boreal:96640

Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism<...Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism<...

Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. ... Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism ... Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism ... Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism ...
more infohttps://ohsu.pure.elsevier.com/en/publications/destabilization-of-atp-sensitive-potassium-channel-activity-by-no-2
  • Congenital hyperinsulinism (CHI) is a rare, genetic disease which causes persistent hypoglycaemia, typically in new-borns. (biomedcentral.com)
  • Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism. (cdc.gov)
  • The Hyperinsulinism centre at Great Ormond Street Hospital has a specialist multi-disciplinary team of clinicians, surgeons, nurse specialists, clinical psychologist, researchers, dietician, speech and language therapist, social work and service coordinator. (gosh.nhs.uk)
  • The isoforms of the sulfonylurea receptor have the following tissue distribution: Adipose tissue - SUR2B/Kir6.1 Pancreatic beta cells - SUR1/Kir6.2 Cardiac myocytes - SUR2A Skeletal muscle - SUR2A Smooth muscle - SUR2B Brain - SUR1, SUR2A and SUR2B The SUR1 protein is coded by the ABCC8 gene and is associated with congenital hyperinsulinism and susceptibility to type 2 diabetes. (wikipedia.org)
  • Adzick NS, DeLeon DD, States LJ, Lord K, Bhatti TA, Becker SA, Stanley CA. Surgical treatment of Congenital Hyperinsulinism: Results from 500 pancreatectomies in neonates and children. (springer.com)
  • N. Scott Adzick, et al, "Surgical Treatment of Congenital Hyperinsulinism: Results from 495 Pancreatectomies in Neonates and Children," American Pediatric Surgical Association Annual Meeting . (chop.edu)
  • HCM has been reported in a few neonates with hyperinsulinism, but its extent and risk factors for its development have not been evaluated. (bmj.com)
  • Multiple ectopic lesions of focal islet adenomatosis identified by positron emission tomography scan in an infant with congenital hyperinsulinism. (springer.com)
  • The purpose of this study is to determine if Exendin-(9-39), an antagonist of the glucagon-like peptide-1 (GLP-1) receptor with effects on the pancreatic beta cell, increases fasting blood glucose levels in subjects with congenital hyperinsulinism. (clinicaltrials.gov)
  • Pancreatic head resection and Roux-en-Y pancreaticojejunostomy for the treatment of the focal form of congenital hyperinsulinism. (springer.com)
  • Severe hyperinsulinism, rather than nasogastric tube feeding or medications, is the main factor associated with FPs. (cdc.gov)
  • Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (springer.com)
  • Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations. (springer.com)
  • Type 2 diabetes and congenital hyperinsulinism cause DNA double-strand breaks and p53 activity in β cells. (ox.ac.uk)
  • The review, first presented during the 2018 American Pediatric Surgical Association Annual Meeting, represents the world's largest single-center case series of patients with congenital HI. (chop.edu)
  • This page explains about congenital hyperinsulinism (CHI), which is present at birth and results in high levels of insulin being produced, which in turn can affect all areas of the body. (gosh.nhs.uk)
  • The event gathered patients, families and providers who have been affected by or treat congenital hyperinsulinism. (chop.edu)
  • The HI Global Registry (HIGR) is the first global patient-powered congenital hyperinsulinism (HI) patient registry. (congenitalhi.org)
  • Congenital Hyperinsulinism International (CHI) has developed a patient-reported registry called the HI Global Registry with its partners to improve the understanding of HI, and advance research for better treatments and patient care. (congenitalhi.org)
  • The project is sponsored by Congenital Hyperinsulinism International and governed by a group of internationally recognized HI patient advocates and experts, known as the HI Global Registry Steering Committee . (congenitalhi.org)
  • The study team is also examining the use of modern technology for monitoring and treating hypo- and hyperglycemia in children and adults with hyperinsulinism. (chop.edu)
  • Many families experience weeks of stress before they are transferred to CHOP for definite treatment," said Diva De León-Crutchlow, MD , a pediatric endocrinologist and Director of CHOP's Congenital Hyperinsulinism Center and co-author of the paper. (chop.edu)
  • Up to now, only limited data on long-term medical treatment in congenital hyperinsulinism (CHI) is available. (biomedcentral.com)