diazoxide has been researched along with Congenital Hyperinsulinism in 112 studies
Diazoxide: A benzothiadiazine derivative that is a peripheral vasodilator used for hypertensive emergencies. It lacks diuretic effect, apparently because it lacks a sulfonamide group.
diazoxide : A benzothiadiazine that is the S,S-dioxide of 2H-1,2,4-benzothiadiazine which is substituted at position 3 by a methyl group and at position 7 by chlorine. A peripheral vasodilator, it increases the concentration of glucose in the plasma and inhibits the secretion of insulin by the beta- cells of the pancreas. It is used orally in the management of intractable hypoglycaemia and intravenously in the management of hypertensive emergencies.
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).
| Excerpt | Relevance | Reference |
|---|---|---|
| "To study the treatment effect and safety of diazoxide on patients with congenital hyperinsulinism (CHI)." | 9.16 | The treatment effect of diazoxide on 44 patients with congenital hyperinsulinism. ( Hu, S; Li, W; Liu, M; Sang, Y; Sun, B; Xu, Z; Yan, J, 2012) |
| "Patients with the most common and severe form of diazoxide-unresponsive congenital hyperinsulinism (HI) require a pancreatectomy." | 8.31 | Optimization of a Glucagon-Like Peptide 1 Receptor Antagonist Antibody for Treatment of Hyperinsulinism. ( Axelrod, F; Chai, J; Challocombe, Z; Chan, KY; De León, DD; Haas, N; Han, Z; Holliday, C; Hu, CF; Juliana, CA; Lujan Hernandez, AG; Peterson, SM; Sato, AK; Stafford, R; Wang, L; Yuan, TZ, 2023) |
| "Higher birth weight, diazoxide unresponsiveness and diagnosis in the first week of life were independently associated with KATP-hyperinsulinism (adjusted odds ratio: 4." | 8.02 | Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11. ( Flanagan, SE; Hewat, TI; Houghton, JAL; Jerome, JCS; Laver, TW; Patel, KA; Shields, BM; Yau, D, 2021) |
| "Diazoxide, a drug used to treat hyperinsulinemic hypoglycemia (HH), is associated with pulmonary hypertension (PH), as reported by the US Food and Drug Administration." | 7.96 | Pulmonary Hypertension Following Increased Dosing of Diazoxide in an Infant. ( Hasegawa, S; Kimura, S; Ohnishi, Y; Okada, S; Suzuki, Y; Yasudo, H, 2020) |
| "Patients on long-term diazoxide treatment may be at risk of pericardial effusion, the timing and significance of which is unpredictable." | 7.96 | Pericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism. ( Hastings, LA; McCready, M; Neville, K; Preddy, J; Verge, CF, 2020) |
| "Pulmonary hypertension can occur in 7% of diazoxide-treated HH patients." | 7.91 | Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multicentre study in the United Kingdom. ( Aftab, S; Banerjee, I; Bath, L; Chen, SC; Christov, G; Dastamani, A; Giardini, A; Hunter, L; Pintus, D; Senniappan, S; Shah, P; Shaikh, MG; Swinburne, C; Yau, D, 2019) |
| " The relatively high prevalence of neutropenia, thrombocytopenia, and hyperuricemia suggests the value in proactively screening for these side effects in children treated with diazoxide." | 7.88 | Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide. ( Avitabile, CM; De León, DD; Givler, S; Herrera, A; Lord, K; Mitteer, L; Vajravelu, ME, 2018) |
| "The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY)." | 7.76 | Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. ( Akcay, T; Banerjee, I; Cody, D; Ellard, S; Flanagan, SE; Hussain, K; Kapoor, RR; Mali, G; Murphy, N; Rubio-Cabezas, O; Schwahn, B; Shield, JP; Siahanidou, T, 2010) |
| "What is Known: • Congenital hyperinsulinism (CHI) or persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) associated with mutations such as the ABBC8 or KCNJ gene known to cause hypoglycaemia refractory to standard medical treatment such as diazoxide and octreotide and may need subtotal pancreatectomy (STP)." | 5.72 | Sirolimus in infants with congenital hyperinsulinism (CHI) - a single-centre experience. ( Bagga, N; Chirla, DK; Gunda, RK; Panigrahy, N; Reddy, L; Sukhija, B, 2022) |
| "The data on the congenital hyperinsulinism (CHI) in Asian Indian patients is limited." | 5.62 | Octreotide-LAR is a Useful Alternative for the Management of Diazoxide-Responsive Congenital Hyperinsulinism. ( Arya, S; Bandgar, T; Flanagan, SE; Karlekar, MP; Lila, A; Patil, V; Sarathi, V; Shah, N, 2021) |
| "Hereditary tyrosinemia (HT1) is a rare metabolic disorder associated with accumulation of toxic metabolites of the tyrosine pathway due to a genetically mediated enzyme defect of fumarylacetoacetate hydrolase." | 5.62 | Neonatal hyperinsulinism in transient and classical forms of tyrosinemia. ( Gujral, J; Romero, CJ; Sethuram, S; Sperling, MA, 2021) |
| "Diazoxide is a peripheral vasodilator that has been used for intravenous treatment of hypertensive emergencies." | 5.56 | Cerebral Insufficiency Caused by Diazoxide in a Premature Neonate with Congenital Hyperinsulinism. ( Fukunaga, S; Furuta, T; Hirano, R; Ishikawa, Y; Motonaga, T; Ohta, H; Okada, S, 2020) |
| "Background Congenital hyperinsulinism (CHI), a condition characterized by dysregulation of insulin secretion from the pancreatic β cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycemia in the newborn period." | 5.56 | Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy. ( Giri, D; Houghton, J; Kumar, Y; Munyard, P; Puvirajasinghe, C; Taylor-Miller, T, 2020) |
| "Oral nifedipine has been effective in isolated cases of CHI." | 5.42 | Nifedipine in Congenital Hyperinsulinism - A Case Report. ( Basak, D; Chatterjee, S; Flanagan, SE; Hussain, K; Khawash, P, 2015) |
| "Diazoxide toxicity was suspected and the drug was withdrawn on day 13." | 5.35 | Pulmonary hypertension, heart failure and neutropenia due to diazoxide therapy. ( Erdem, S; Küçükosmanoglu, O; Yildizdas, D; Yilmaz, M; Yüksel, B, 2008) |
| "To study the treatment effect and safety of diazoxide on patients with congenital hyperinsulinism (CHI)." | 5.16 | The treatment effect of diazoxide on 44 patients with congenital hyperinsulinism. ( Hu, S; Li, W; Liu, M; Sang, Y; Sun, B; Xu, Z; Yan, J, 2012) |
| " Here we present a case of sever congenital hyperinsulinism in a girl admitted for lethargy, irritability and general seizures accompanied with profound hypoglycemia, in spite of aggressive medical treatment, she died because of sever congenital hyperinsulinism diazoxide unresponsive." | 5.05 | Congenital hyperinsulinsim: case report and review of literature. ( Abilkassem, R; Agadr, A; Elyajouri, A; Hasbaoui, BE, 2020) |
| "Patients with the most common and severe form of diazoxide-unresponsive congenital hyperinsulinism (HI) require a pancreatectomy." | 4.31 | Optimization of a Glucagon-Like Peptide 1 Receptor Antagonist Antibody for Treatment of Hyperinsulinism. ( Axelrod, F; Chai, J; Challocombe, Z; Chan, KY; De León, DD; Haas, N; Han, Z; Holliday, C; Hu, CF; Juliana, CA; Lujan Hernandez, AG; Peterson, SM; Sato, AK; Stafford, R; Wang, L; Yuan, TZ, 2023) |
| "Higher birth weight, diazoxide unresponsiveness and diagnosis in the first week of life were independently associated with KATP-hyperinsulinism (adjusted odds ratio: 4." | 4.02 | Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11. ( Flanagan, SE; Hewat, TI; Houghton, JAL; Jerome, JCS; Laver, TW; Patel, KA; Shields, BM; Yau, D, 2021) |
| "Diazoxide, a drug used to treat hyperinsulinemic hypoglycemia (HH), is associated with pulmonary hypertension (PH), as reported by the US Food and Drug Administration." | 3.96 | Pulmonary Hypertension Following Increased Dosing of Diazoxide in an Infant. ( Hasegawa, S; Kimura, S; Ohnishi, Y; Okada, S; Suzuki, Y; Yasudo, H, 2020) |
| "The use of lanreotide in patients with diazoxide-resistant congenital hyperinsulinism was effective and safe in the vast majority of the patients." | 3.96 | [The use of long-acting somatostatin analogs in congenital hyperinsulinism]. ( Gubaeva, DN; Melikyan, MA; Novokreshhennyx, EE, 2020) |
| "Patients on long-term diazoxide treatment may be at risk of pericardial effusion, the timing and significance of which is unpredictable." | 3.96 | Pericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism. ( Hastings, LA; McCready, M; Neville, K; Preddy, J; Verge, CF, 2020) |
| "Pulmonary hypertension can occur in 7% of diazoxide-treated HH patients." | 3.91 | Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multicentre study in the United Kingdom. ( Aftab, S; Banerjee, I; Bath, L; Chen, SC; Christov, G; Dastamani, A; Giardini, A; Hunter, L; Pintus, D; Senniappan, S; Shah, P; Shaikh, MG; Swinburne, C; Yau, D, 2019) |
| " The relatively high prevalence of neutropenia, thrombocytopenia, and hyperuricemia suggests the value in proactively screening for these side effects in children treated with diazoxide." | 3.88 | Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide. ( Avitabile, CM; De León, DD; Givler, S; Herrera, A; Lord, K; Mitteer, L; Vajravelu, ME, 2018) |
| "We first introduced the concept of the mTOR pathway's involvement in congenital hyperinsulinism of infancy (CHI), based largely on morphoproteomic observations and clinical outcomes using sirolimus (rapamycin) as a therapeutic agent in infants refractory to octreotide and diazoxide treatment." | 3.85 | Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy. ( Brown, RE; Hussain, K; McGuire, MF; Senniappan, S, 2017) |
| "Treatment of severe diffuse congenital hyperinsulinism (CHI) without sufficient response to diazoxide is complicated by the lack of approved drugs." | 3.85 | Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism. ( Corda, H; Klee, D; Kummer, S; Mayatepek, E; Meissner, T; Teig, N; Welters, A, 2017) |
| "This case series follows the evolving course of three patients with confirmed HNF4A-mediated congenital hyperinsulinism, highlighting (1) the variable natural history of these mutations, (2) the potential for prolonged diazoxide requirement, even into adolescence, and (3) the need for screening, regardless of family history." | 3.80 | The evolving course of HNF4A hyperinsulinaemic hypoglycaemia--a case series. ( Ellard, S; Flanagan, SE; Hawkes, CP; McDonnell, CM; McGlacken-Byrne, SM; Murphy, NP, 2014) |
| "The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY)." | 3.76 | Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. ( Akcay, T; Banerjee, I; Cody, D; Ellard, S; Flanagan, SE; Hussain, K; Kapoor, RR; Mali, G; Murphy, N; Rubio-Cabezas, O; Schwahn, B; Shield, JP; Siahanidou, T, 2010) |
| "Using oral diazoxide for SGA neonates with HH provided early hypoglycaemic control with no apparent adverse effects." | 2.87 | Randomised controlled trial of diazoxide for small for gestational age neonates with hyperinsulinaemic hypoglycaemia provided early hypoglycaemic control without adverse effects. ( Attri, SV; Balachandran, B; Mukhopadhyay, K; Sachdeva, N; Walia, R, 2018) |
| "Congenital hyperinsulinism is characterised by the inappropriate release of insulin during hypoglycaemia." | 2.82 | Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease. ( Flanagan, SE; Hewat, TI; Johnson, MB, 2022) |
| "Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in neonates, infants, and children." | 2.82 | Congenital Hyperinsulinism: An Historical Perspective. ( De Leon, DD; Stanley, CA; Thornton, PS, 2022) |
| "Maturity-Onset Diabetes of the Youth (MODY) diabetes remains commonly misdiagnosed." | 2.82 | Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review. ( Nicolino, M; Perge, K, 2022) |
| " We aimed to assemble more objective information on medical treatment in CHI with regard to type and duration, dosage as well as side effects." | 2.52 | Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers. ( Kummer, S; Lerch, C; Marquard, J; Mayatepek, E; Meissner, T; Salgin, B; Welters, A, 2015) |
| "Congenital hyperinsulinism is a genetic condition causing dysregulation of insulin and results in persistent hypoglycemia." | 2.50 | Congenital hyperinsulinism: exclusive human milk and breastfeeding. ( Edwards, TM; Spatz, DL, 2014) |
| "Rare forms of congenital hyperinsulinism (CHI) are caused by mutations in GLUD1 (encoding glutamate dehydrogenase), GCK (encoding glucokinase), HADH (encoding for L-3-hydroxyacyl-CoA dehydrogenase), SLC16A1 (encoding the monocarboxylat transporter 1), HNF4A (encoding hepatocyte nuclear factor 4α) or UCP2 (encoding mitochondrial uncoupling protein 2)." | 2.47 | Rare forms of congenital hyperinsulinism. ( Marquard, J; Mayatepek, E; Meissner, T; Palladino, AA; Stanley, CA, 2011) |
| "The risk of persistent neonatal hyperinsulinism should be considered in hypoglycemic neonates particularly located in regions with high rates of consanguinity." | 1.91 | Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience. ( Bezirganoglu, H; Celik, K; Okur, N; Ozbek, MN; Tas, FF, 2023) |
| "Diazoxide was initiated at 3 mg/kg/day at a median age of 10 days." | 1.72 | Safety and efficacy of low-dose diazoxide in small-for-gestational-age infants with hyperinsulinaemic hypoglycaemia. ( Chandran, S; Mei Chien, C; R, PR; Rajadurai, VS; Saffari, SE; Yap, F, 2022) |
| "Early diagnosis and treatment of infantile spasms have a better prognosis." | 1.72 | Case Report: Neurodevelopmental Outcome in a Small-for-Gestational-Age Infant With Symptomatic Hyperinsulinemic Hypoglycemia, Gaze Preference, and Infantile Spasms. ( Chandran, S; Janardhan, K; Teoh, KW; Yap, F, 2022) |
| "What is Known: • Congenital hyperinsulinism (CHI) or persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) associated with mutations such as the ABBC8 or KCNJ gene known to cause hypoglycaemia refractory to standard medical treatment such as diazoxide and octreotide and may need subtotal pancreatectomy (STP)." | 1.72 | Sirolimus in infants with congenital hyperinsulinism (CHI) - a single-centre experience. ( Bagga, N; Chirla, DK; Gunda, RK; Panigrahy, N; Reddy, L; Sukhija, B, 2022) |
| "The data on the congenital hyperinsulinism (CHI) in Asian Indian patients is limited." | 1.62 | Octreotide-LAR is a Useful Alternative for the Management of Diazoxide-Responsive Congenital Hyperinsulinism. ( Arya, S; Bandgar, T; Flanagan, SE; Karlekar, MP; Lila, A; Patil, V; Sarathi, V; Shah, N, 2021) |
| "The most severe forms of congenital hyperinsulinism (CHI) are caused by inactivating mutations of two KATP channel genes, KCNJ11 and ABCC8." | 1.62 | Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation. ( Adachi, E; Gau, M; Kashimada, K; Miyakawa, Y; Morio, T; Nakagawa, R; Saito, Y; Shidei, T; Sutani, A; Takasawa, K; Taki, A, 2021) |
| "Diazoxide treatment resolved the glycopenic symptoms, the non-hypoglycemic seizures and normalized brain electrical activity allowing complete withdrawal of antiepileptic medication." | 1.62 | Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide. ( de Bellescize, J; Descamps, J; Nicolino, M; Perge, K; Ruello, C; Saint-Martin, C, 2021) |
| "Hereditary tyrosinemia (HT1) is a rare metabolic disorder associated with accumulation of toxic metabolites of the tyrosine pathway due to a genetically mediated enzyme defect of fumarylacetoacetate hydrolase." | 1.62 | Neonatal hyperinsulinism in transient and classical forms of tyrosinemia. ( Gujral, J; Romero, CJ; Sethuram, S; Sperling, MA, 2021) |
| "Background Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn." | 1.56 | Octreotide-related exocrine pancreatic insufficiency (EPI) in congenital hyperinsulinism. ( Argente, J; Celaya, P; Cilleruelo, ML; Golmayo, L; Güemes, M; Gutiérrez, C; Lacámara, N; Martínez-Badás, I; Ros-Pérez, P, 2020) |
| "Background Congenital hyperinsulinism (CHI), a condition characterized by dysregulation of insulin secretion from the pancreatic β cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycemia in the newborn period." | 1.56 | Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy. ( Giri, D; Houghton, J; Kumar, Y; Munyard, P; Puvirajasinghe, C; Taylor-Miller, T, 2020) |
| "Diazoxide is a peripheral vasodilator that has been used for intravenous treatment of hypertensive emergencies." | 1.56 | Cerebral Insufficiency Caused by Diazoxide in a Premature Neonate with Congenital Hyperinsulinism. ( Fukunaga, S; Furuta, T; Hirano, R; Ishikawa, Y; Motonaga, T; Ohta, H; Okada, S, 2020) |
| "This case shows that patients with CHARGE syndrome caused by a CHD7 mutation may present with persistent hyperinsulinemic hypoglycemia, just like other dysmorphic syndromes genetically caused by aberrations in chromatin remodeling." | 1.48 | A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy. ( Fukami, M; Ihara, K; Itonaga, T; Maeda, T; Sekiguchi, K; Yorifuji, T, 2018) |
| "Hyperosmolar coma with ketoacidosis is a rare side-effect of diazoxide therapy, documented even in patients with persistent hyperinsulinemic hypoglycemia of infancy." | 1.48 | Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis. ( Bhatia, V; Ellard, S; Flanagan, SE; Hussain, K; Mangla, P, 2018) |
| "The rarest genetic form of congenital hyperinsulinism (HI) has been associated with dominant inactivating mutations in uncoupling protein 2 (UCP2), a mitochondrial inner membrane carrier that modulates oxidation of glucose vs amino acids." | 1.46 | Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2. ( Boodhansingh, KE; De Leon, DD; Ferrara, CT; Fiermonte, G; Ganguly, A; Palmieri, F; Paradies, E; Quintos, JB; Stanley, CA; Steinkrauss, LJ; Topor, LS, 2017) |
| " Measured serum diazoxide concentrations were used for population pharmacokinetic analysis." | 1.46 | Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia. ( Hasegawa, T; Kizu, R; Kosaki, K; Nishimura, K; Sato, R; Tanaka, T; Tanigawara, Y, 2017) |
| "Nifedipine was administered orally at an escalating dose up to a maximum of 2." | 1.46 | Assessment of Nifedipine Therapy in Hyperinsulinemic Hypoglycemia due to Mutations in the ABCC8 Gene. ( Gilbert, C; Güemes, M; Hinchey, L; Hussain, K; Morgan, K; Shah, P; Silvera, S, 2017) |
| "His mother had renal Fanconi syndrome." | 1.43 | Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. ( Bockenhauer, D; Gilbert, C; Güemes, M; Hussain, K; Improda, N; Morgan, K; Sebire, N; Shah, P, 2016) |
| "All four patients with mental retardation had a delay in the maintenance of euglycemia, and three of them also had seizure disorder." | 1.43 | Clinical characteristics and long-term outcome of Taiwanese children with congenital hyperinsulinism. ( Chiu, PC; Lee, CT; Liu, SY; Tsai, WY; Tung, YC; Wu, MZ, 2016) |
| "Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery." | 1.43 | Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. ( Banerjee, I; Bowden, L; Cosgrove, KE; Craigie, R; Dunne, MJ; Ellard, S; Flanagan, SE; Hall, C; Mohamed, Z; Murphy, N; Nicholson, J; Padidela, R; Randell, T; Rigby, L; Salomon-Estebanez, M; Skae, M, 2016) |
| "Oral nifedipine has been effective in isolated cases of CHI." | 1.42 | Nifedipine in Congenital Hyperinsulinism - A Case Report. ( Basak, D; Chatterjee, S; Flanagan, SE; Hussain, K; Khawash, P, 2015) |
| "Diazoxide therapy was effective for the hypoglycemia." | 1.42 | Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia. ( Gohda, Y; Kondoh, T; Matsumoto, T; Matsunaga, T; Oka, S; Watanabe, S; Yoshiura, K, 2015) |
| " Whilst our patient responded well to nifedipine, the dosage could not be increased to 0." | 1.40 | A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant. ( Akcurin, S; Bircan, I; Durmaz, E; Ellard, S; Flanagan, SE; Parlak, M, 2014) |
| "In a family with congenital hyperinsulinism (HI), first described in the 1950s by McQuarrie, we examined the genetic locus and clinical phenotype of a novel form of dominant HI." | 1.39 | Dominant form of congenital hyperinsulinism maps to HK1 region on 10q. ( Becker, S; Boodhansingh, K; Bradfield, J; Ganapathy, K; Ganguly, A; Givler, S; Hakonarson, H; Hughes, N; Mackiewicz, K; Macmullen, C; Monos, D; Pinney, SE; Sasson, A; Stanley, CA; Stokes, D, 2013) |
| "Compound heterozygous mutations in congenital hyperinsulinism result in complex interactions." | 1.39 | Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations. ( Athanasakis, E; Bruno, I; Burlina, A; Dionisi-Vici, C; Faletra, F; Gasparini, P; Shyng, SL; Snider, K; Stanley, CA; Ventura, A; Zhou, Q, 2013) |
| " We investigated ABCC8 and KCNJ11 gene dosage in 29 probands from a cohort of 125 with diazoxide-unresponsive HH where sequencing did not provide a genetic diagnosis." | 1.38 | Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. ( Banerjee, I; Damhuis, A; Ellard, S; Flanagan, S; Hussain, K; Jefferies, C; Kapoor, R; Rokicki, D, 2012) |
| "Five children had focal type congenital hyperinsulinism." | 1.37 | [Congenital hyperinsulinism in the north-east Netherlands. Clinical features and DNA diagnostics in 22 children]. ( Bakker-van Waarde, WM; Bikker, H; Noordam, C; Ris-Stalpers, C; Verheul, JC, 2011) |
| "Diazoxide toxicity was suspected and the drug was withdrawn on day 13." | 1.35 | Pulmonary hypertension, heart failure and neutropenia due to diazoxide therapy. ( Erdem, S; Küçükosmanoglu, O; Yildizdas, D; Yilmaz, M; Yüksel, B, 2008) |
| "Congenital hyperinsulinism is a condition of dysregulated insulin secretion often caused by inactivating mutations of the ATP-sensitive K+ (KATP) channel in the pancreatic beta cell." | 1.35 | Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. ( Becker, S; Ganguly, A; Hanna, C; Lin, YW; MacMullen, C; Pinney, SE; Shyng, SL; Stanley, CA; Thornton, P, 2008) |
| "Diazoxide is an agonist of the pancreatic beta-cell KATP channel and inhibits insulin secretion." | 1.33 | Ketotic hypoglycaemia in children with diazoxide responsive hyperinsulinism of infancy. ( Hussain, K, 2005) |
| "EEG revealed the typical pattern of hypsarrhythmia leading to the diagnosis of West syndrome." | 1.32 | Persistent hyperinsulinemic hypoglycemia presenting with a rare complication: West syndrome. ( Bideci, A; Camurdan, MO; Cinaz, P; Demirel, F; Serdaroğlu, A, 2004) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 11 (9.82) | 29.6817 |
| 2010's | 61 (54.46) | 24.3611 |
| 2020's | 40 (35.71) | 2.80 |
| Authors | Studies |
|---|---|
| Chandran, S | 2 |
| R, PR | 1 |
| Mei Chien, C | 1 |
| Saffari, SE | 1 |
| Rajadurai, VS | 1 |
| Yap, F | 2 |
| Hewat, TI | 2 |
| Yau, D | 3 |
| Jerome, JCS | 1 |
| Laver, TW | 1 |
| Houghton, JAL | 2 |
| Shields, BM | 1 |
| Flanagan, SE | 19 |
| Patel, KA | 1 |
| Karlekar, MP | 1 |
| Sarathi, V | 1 |
| Arya, S | 1 |
| Patil, V | 1 |
| Lila, A | 1 |
| Shah, N | 1 |
| Bandgar, T | 1 |
| Razzaghy-Azar, M | 1 |
| Saeedi, S | 1 |
| Dayani, SB | 1 |
| Enayati, S | 1 |
| Abbasi, F | 1 |
| Hashemian, S | 1 |
| Eshraghi, P | 1 |
| Karimdadi, S | 1 |
| Tajdini, P | 1 |
| Vakili, R | 1 |
| Amoli, MM | 1 |
| Yaghootkar, H | 1 |
| Sharma, R | 2 |
| Roy, K | 2 |
| Satapathy, AK | 2 |
| Kumar, A | 1 |
| Nanda, PM | 1 |
| Damle, N | 1 |
| Radha, V | 4 |
| Mohan, V | 4 |
| Jain, V | 3 |
| Lemaitre, M | 1 |
| Douillard, C | 1 |
| Froguel, P | 1 |
| Bonnefond, A | 1 |
| Vambergue, A | 1 |
| Boodhansingh, KE | 2 |
| Yang, Z | 1 |
| Li, C | 1 |
| Chen, P | 1 |
| Lord, K | 3 |
| Becker, SA | 2 |
| States, LJ | 1 |
| Adzick, NS | 2 |
| Bhatti, T | 1 |
| Shyng, SL | 6 |
| Ganguly, A | 5 |
| Stanley, CA | 13 |
| De Leon, DD | 8 |
| Teoh, KW | 1 |
| Janardhan, K | 1 |
| Johnson, MB | 1 |
| Perge, K | 2 |
| Nicolino, M | 2 |
| Barsi, Á | 1 |
| Beke, A | 1 |
| Sármán, B | 1 |
| van Albada, ME | 1 |
| Mohnike, K | 2 |
| Dunne, MJ | 4 |
| Banerjee, I | 7 |
| Betz, SF | 1 |
| Gundogdu, S | 3 |
| Ciftci, M | 3 |
| Atay, E | 3 |
| Ayaz, A | 3 |
| Ceran, O | 3 |
| Atay, Z | 3 |
| Thornton, PS | 3 |
| De Los Santos-La Torre, MA | 2 |
| Del Águila-Villar, CM | 2 |
| Lu-de Lama, LR | 2 |
| Nuñez-Almache, O | 2 |
| Chávez-Tejada, EM | 2 |
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18 reviews available for diazoxide and Congenital Hyperinsulinism
| Article | Year |
|---|---|
Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Humans; Insulin; KATP Channels; Mutation | 2022 |
Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.
Topics: Child; Congenital Hyperinsulinism; Diabetes Mellitus, Type 2; Diazoxide; Female; Humans; Mutation; P | 2022 |
Somatostatin receptors in congenital hyperinsulinism: Biology to bedside.
Topics: Biology; Child; Congenital Hyperinsulinism; Diazoxide; Humans; Insulin; Ligands; Receptors, Somatost | 2022 |
Congenital Hyperinsulinism: An Historical Perspective.
Topics: Antihypertensive Agents; Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Infant, Newbo | 2022 |
Congenital Hyperinsulinism: An Historical Perspective.
Topics: Antihypertensive Agents; Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Infant, Newbo | 2022 |
Congenital Hyperinsulinism: An Historical Perspective.
Topics: Antihypertensive Agents; Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Infant, Newbo | 2022 |
Congenital Hyperinsulinism: An Historical Perspective.
Topics: Antihypertensive Agents; Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Infant, Newbo | 2022 |
Congenital hyperinsulinsim: case report and review of literature.
Topics: Congenital Hyperinsulinism; Diazoxide; Fatal Outcome; Female; Humans; Infant, Newborn; Seizures; Sev | 2020 |
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Follow-Up Studies; Humans; Infant; Retrospective Studi | 2021 |
Development of Pulmonary Hypertension During Treatment with Diazoxide: A Case Series and Literature Review.
Topics: Congenital Hyperinsulinism; Diazoxide; Humans; Hypertension, Pulmonary; Infant, Newborn; Insulin Ant | 2017 |
Hyperinsulinism in the Neonate.
Topics: Abnormalities, Multiple; Antihypertensive Agents; Beckwith-Wiedemann Syndrome; Congenital Hyperinsul | 2018 |
Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia.
Topics: Antihypertensive Agents; Congenital Hyperinsulinism; Diazoxide; Gastrointestinal Agents; Glucagon; H | 2019 |
Congenital hyperinsulinism: exclusive human milk and breastfeeding.
Topics: Breast Feeding; Congenital Hyperinsulinism; Diazoxide; Female; Fluid Therapy; Food, Fortified; Gastr | 2014 |
Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers.
Topics: Blood Glucose; Cohort Studies; Congenital Hyperinsulinism; Diazoxide; Humans; Somatostatin; Time Fac | 2015 |
Hyperinsulinaemic hypoglycaemia.
Topics: Congenital Hyperinsulinism; Diazoxide; DNA Mutational Analysis; Early Diagnosis; Female; Humans; Inf | 2009 |
Genetics of congenital hyperinsulinemic hypoglycemia.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; ATP-Binding Cassette Transporters; Congenital Hyperinsulinism; Dia | 2011 |
KATP channel mutations in congenital hyperinsulinism.
Topics: ATP-Binding Cassette Transporters; Congenital Hyperinsulinism; Diazoxide; Humans; KATP Channels; Mut | 2011 |
Rare forms of congenital hyperinsulinism.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Congenital Hyperinsulinism; Diazoxide; Glucokinase; Glutamate Dehy | 2011 |
[Congenital hyperinsulinism in newborn and infant].
Topics: ATP-Binding Cassette Transporters; Child; Child, Preschool; Congenital Hyperinsulinism; Diazoxide; F | 2005 |
Medications used in the treatment of hypoglycemia due to congenital hyperinsulinism of infancy (HI).
Topics: Congenital Hyperinsulinism; Diazoxide; Gastrointestinal Agents; Glucagon; Humans; Hypoglycemia; Infa | 2004 |
Towards selective Kir6.2/SUR1 potassium channel openers, medicinal chemistry and therapeutic perspectives.
Topics: Amides; Animals; ATP-Binding Cassette Transporters; Benzopyrans; Benzothiadiazines; Congenital Hyper | 2006 |
2 trials available for diazoxide and Congenital Hyperinsulinism
| Article | Year |
|---|---|
Randomised controlled trial of diazoxide for small for gestational age neonates with hyperinsulinaemic hypoglycaemia provided early hypoglycaemic control without adverse effects.
Topics: Congenital Hyperinsulinism; Diazoxide; Female; Humans; Infant, Newborn; Infant, Small for Gestationa | 2018 |
The treatment effect of diazoxide on 44 patients with congenital hyperinsulinism.
Topics: Age of Onset; Antihypertensive Agents; Blood Glucose; China; Congenital Hyperinsulinism; Diazoxide; | 2012 |
92 other studies available for diazoxide and Congenital Hyperinsulinism
| Article | Year |
|---|---|
Safety and efficacy of low-dose diazoxide in small-for-gestational-age infants with hyperinsulinaemic hypoglycaemia.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Female; Gestational Age; Humans; Infant; Infant, Newbo | 2022 |
Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.
Topics: Birth Weight; Congenital Hyperinsulinism; Diazoxide; Female; Humans; Infant, Newborn; KATP Channels; | 2021 |
Octreotide-LAR is a Useful Alternative for the Management of Diazoxide-Responsive Congenital Hyperinsulinism.
Topics: Congenital Hyperinsulinism; Diazoxide; Female; Humans; India; Infant; Infant, Newborn; Male; Octreot | 2021 |
Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Female; Humans; Infant; Iran; Male; Mutation; Sulfonyl | 2022 |
Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience.
Topics: Child; Child, Preschool; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Infant, Newborn; Mut | 2022 |
Management of pregnancy in a patient with congenital hyperinsulinism treated with association of diazoxide/calcium channel blocker.
Topics: Calcium Channel Blockers; Congenital Hyperinsulinism; Diazoxide; Female; Humans; Hyperinsulinism; In | 2022 |
Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Genotype; Germinal Center Kinases; Humans; Mutation; P | 2022 |
Case Report: Neurodevelopmental Outcome in a Small-for-Gestational-Age Infant With Symptomatic Hyperinsulinemic Hypoglycemia, Gaze Preference, and Infantile Spasms.
Topics: Blood Glucose; Brain Injuries; Child; Congenital Hyperinsulinism; Diazoxide; Glucose; Humans; Hypogl | 2022 |
Case report: A particularly rare case of endogenous hyperinsulinemic hypoglycemia complicated with pregnancy treated with short-acting somatostatin analog injections.
Topics: Adult; Blood Glucose; Blood Glucose Self-Monitoring; Cesarean Section; Child; Congenital Hyperinsuli | 2022 |
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Potassium Channels, Inwardly Rectifyin | 2023 |
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Potassium Channels, Inwardly Rectifyin | 2023 |
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Potassium Channels, Inwardly Rectifyin | 2023 |
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Potassium Channels, Inwardly Rectifyin | 2023 |
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Potassium Channels, Inwardly Rectifyin | 2023 |
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Potassium Channels, Inwardly Rectifyin | 2023 |
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Potassium Channels, Inwardly Rectifyin | 2023 |
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Potassium Channels, Inwardly Rectifyin | 2023 |
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Potassium Channels, Inwardly Rectifyin | 2023 |
Hyperinsulinism-hyperammonemia syndrome in two Peruvian children with refractory epilepsy.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Drug Resistant Epilepsy; Epilepsy; Glutamate Dehydroge | 2023 |
Hyperinsulinism-hyperammonemia syndrome in two Peruvian children with refractory epilepsy.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Drug Resistant Epilepsy; Epilepsy; Glutamate Dehydroge | 2023 |
Hyperinsulinism-hyperammonemia syndrome in two Peruvian children with refractory epilepsy.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Drug Resistant Epilepsy; Epilepsy; Glutamate Dehydroge | 2023 |
Hyperinsulinism-hyperammonemia syndrome in two Peruvian children with refractory epilepsy.
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Drug Resistant Epilepsy; Epilepsy; Glutamate Dehydroge | 2023 |
Adjustment of octreotide dose given via insulin pump based on continuous glucose monitoring (CGM) in a child with congenital hyperinsulinism.
Topics: Blood Glucose Self-Monitoring; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Insulin; Male; | 2023 |
A novel mutation in the KCNJ11 gene (p.Val36Glu), predisposes to congenital hyperinsulinemia.
Topics: Congenital Hyperinsulinism; Diazoxide; Heterozygote; Humans; Infant; Insulin; Male; Mutation; Sulfon | 2023 |
Optimization of a Glucagon-Like Peptide 1 Receptor Antagonist Antibody for Treatment of Hyperinsulinism.
Topics: Animals; Antibodies; Blood Glucose; Congenital Hyperinsulinism; Diazoxide; Glucagon-Like Peptide 1; | 2023 |
Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience.
Topics: Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Infant, Newborn; Mutation; Retrospective Stud | 2023 |
Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism.
Topics: Adenosine Triphosphate; Child; Congenital Hyperinsulinism; Diazoxide; Genetic Association Studies; H | 2023 |
Hyperinsulinaemic hypoglycaemia in deoxyguanosine kinase deficiency.
Topics: Adult; Congenital Hyperinsulinism; Diazoxide; Drug Administration Schedule; Humans; Hyperinsulinism; | 2019 |
Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multicentre study in the United Kingdom.
Topics: Congenital Hyperinsulinism; Diazoxide; Echocardiography; Female; Gestational Age; Humans; Hypertensi | 2019 |
Cerebral Insufficiency Caused by Diazoxide in a Premature Neonate with Congenital Hyperinsulinism.
Topics: Congenital Hyperinsulinism; Diazoxide; Female; Humans; Hypotension; Infant, Newborn; Infant, Prematu | 2020 |
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center.
Topics: Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Congenital Hyperinsulinism; Denmark; Dia | 2020 |
Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy.
Topics: Congenital Hyperinsulinism; Diazoxide; Humans; Infant, Newborn; Male; Sulfonylurea Receptors; Treatm | 2020 |
Pericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism.
Topics: Adolescent; Congenital Hyperinsulinism; Diazoxide; Diuretics; Female; Humans; Infant; Infant, Newbor | 2020 |
Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia.
Topics: Child; Child, Preschool; Congenital Hyperinsulinism; Developmental Biology; Diazoxide; Follow-Up Stu | 2020 |
Octreotide-related exocrine pancreatic insufficiency (EPI) in congenital hyperinsulinism.
Topics: Congenital Hyperinsulinism; Diazoxide; Exocrine Pancreatic Insufficiency; Hemorrhage; Humans; Infant | 2020 |
Pulmonary Hypertension Following Increased Dosing of Diazoxide in an Infant.
Topics: Atrial Natriuretic Factor; Beckwith-Wiedemann Syndrome; Cardiac Catheterization; Congenital Hyperins | 2020 |
Clinical Predictors of Transient versus Persistent Neonatal Hyperinsulinism.
Topics: Antihypertensive Agents; Congenital Hyperinsulinism; Diazoxide; Female; Humans; Infant, Newborn; Mal | 2020 |
[The use of long-acting somatostatin analogs in congenital hyperinsulinism].
Topics: Child; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Injections, Subcutaneous; Octreotide; | 2020 |
Necrotizing Enterocolitis in Neonates With Hyperinsulinemic Hypoglycemia Treated With Diazoxide.
Topics: Congenital Hyperinsulinism; Diazoxide; Enterocolitis, Necrotizing; Fatal Outcome; Female; Humans; In | 2021 |
Analysis of clinical and genetic characteristics of Chinese children with congenital hyperinsulinemia that is spontaneously relieved.
Topics: Child; China; Congenital Hyperinsulinism; Diazoxide; DNA Mutational Analysis; Humans; Infant; Mutati | 2021 |
Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience.
Topics: Adolescent; Brain; Child; Child, Preschool; Cohort Studies; Congenital Hyperinsulinism; Diazoxide; E | 2021 |
Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation.
Topics: Biological Variation, Population; Congenital Hyperinsulinism; Diazoxide; Humans; Mutation; Sulfonylu | 2021 |
Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide.
Topics: Adolescent; Antihypertensive Agents; Congenital Hyperinsulinism; Diazoxide; Epilepsy, Generalized; H | 2021 |
Neonatal hyperinsulinism in transient and classical forms of tyrosinemia.
Topics: Congenital Hyperinsulinism; Diazoxide; Humans; Hyperinsulinism; Infant; Infant, Newborn; Liver; Tyro | 2021 |
New Tools for Congenital Hyperinsulinism.
Topics: Congenital Hyperinsulinism; Diazoxide; Gastrointestinal Agents; Humans; Infant; Infant, Newborn; Mal | 2021 |
Sirolimus in infants with congenital hyperinsulinism (CHI) - a single-centre experience.
Topics: Congenital Hyperinsulinism; Diazoxide; Glucose; Humans; Hyperinsulinism; Infant; Infant, Newborn; Mu | 2022 |
When is it best to discontinue diazoxide in children with persistent hyperinsulinaemic hypoglycaemia and negative genetics for K
Topics: Adenosine Triphosphate; Child; Congenital Hyperinsulinism; Diazoxide; Female; Humans; Male; Retrospe | 2022 |
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.
Topics: Antihypertensive Agents; Child, Preschool; Congenital Hyperinsulinism; Diazoxide; Female; Heterozygo | 2017 |
Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism.
Topics: Congenital Hyperinsulinism; Diazoxide; Female; Gels; Humans; Infant; Infant, Newborn; Male; Peptides | 2017 |
Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia.
Topics: Adolescent; Child; Child, Preschool; Congenital Hyperinsulinism; Diazoxide; Dose-Response Relationsh | 2017 |
Methods for Characterizing Disease-Associated ATP-Sensitive Potassium Channel Mutations.
Topics: Animals; Blotting, Western; Chlorocebus aethiops; Congenital Hyperinsulinism; COS Cells; Diabetes Me | 2018 |
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy.
Topics: Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Octreotide; Proteomics; Signal Transduction; | 2017 |
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy.
Topics: Alleles; Blood Glucose; CHARGE Syndrome; Chromatin Assembly and Disassembly; Congenital Hyperinsulin | 2018 |
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis.
Topics: Antihypertensive Agents; Congenital Hyperinsulinism; Diazoxide; Humans; Hyperglycemic Hyperosmolar N | 2018 |
Assessment and Management of Anti-Insulin Autoantibodies in Varying Presentations of Insulin Autoimmune Syndrome.
Topics: Adult; Aged; Autoimmune Diseases; Biomarkers; Blood Glucose; C-Peptide; Chromatography, Gel; Congeni | 2018 |
[Clinical features and genetic analysis of seven patients with congenital hyperinsulinism].
Topics: Congenital Hyperinsulinism; Diazoxide; DNA Mutational Analysis; Glutamate Dehydrogenase; Humans; Mal | 2018 |
Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide.
Topics: Congenital Hyperinsulinism; Diazoxide; Dose-Response Relationship, Drug; Drug Administration Schedul | 2018 |
Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes.
Topics: Congenital Hyperinsulinism; Diazoxide; Female; Genotype; Humans; Infant, Newborn; Male; Mutation; Pa | 2018 |
Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism.
Topics: Adolescent; Blood Glucose; C-Peptide; Child; Child, Preschool; Congenital Hyperinsulinism; Diabetes | 2018 |
Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome.
Topics: Autistic Disorder; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 16; Congenita | 2019 |
Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1.
Topics: Congenital Hyperinsulinism; Diazoxide; Female; Genetic Predisposition to Disease; Glutamate Dehydrog | 2019 |
Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation.
Topics: Antihypertensive Agents; ATP-Binding Cassette Transporters; Chlorothiazide; Congenital Hyperinsulini | 2013 |
The evolving course of HNF4A hyperinsulinaemic hypoglycaemia--a case series.
Topics: Age of Onset; Antihypertensive Agents; Birth Weight; Blood Glucose; Child; Child, Preschool; Congeni | 2014 |
Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.
Topics: Adult; Aged, 80 and over; Blood Glucose; Child, Preschool; Chromosomes, Human, Pair 10; Congenital H | 2013 |
Paradoxical hypoglycaemia associated with diazoxide therapy for hyperinsulinaemic hypoglycaemia.
Topics: Congenital Hyperinsulinism; Diazoxide; Female; Glucagon; Glucose; Humans; Hypoglycemia; Infant; Octr | 2013 |
The variable faces of monogenic diabetes.
Topics: Antihypertensive Agents; Congenital Hyperinsulinism; Diazoxide; Female; Hepatocyte Nuclear Factor 4; | 2014 |
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.
Topics: Algorithms; Child; Child, Preschool; Congenital Hyperinsulinism; Decision Trees; Diazoxide; Female; | 2014 |
High prevalence of severe circulatory complications with diazoxide in premature infants.
Topics: Birth Weight; Blood Circulation; Congenital Hyperinsulinism; Diazoxide; Ductus Arteriosus, Patent; E | 2014 |
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
Topics: Alleles; Amino Acid Substitution; Congenital Hyperinsulinism; Diazoxide; DNA Mutational Analysis; Dr | 2015 |
A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant.
Topics: Child, Preschool; Codon, Nonsense; Congenital Hyperinsulinism; Diazoxide; Humans; Infant; Infant, Ne | 2014 |
Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.
Topics: Asian People; Base Sequence; C-Peptide; Congenital Hyperinsulinism; Diazoxide; Humans; India; Insuli | 2014 |
Congenital hyperinsulinemia with grade 4 intraventricular hemorrhage: a case report with a 2-year follow-up.
Topics: Angiography; Congenital Hyperinsulinism; Diazoxide; Female; Humans; Infant, Newborn; Infant, Newborn | 2014 |
Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Child; Congenital Hyperinsulinism; Diazoxide; Female; Homozygote; | 2015 |
Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.
Topics: Abnormalities, Multiple; Blood Glucose; Congenital Hyperinsulinism; Developmental Disabilities; Diaz | 2015 |
Clinical characteristics and long-term outcome of Taiwanese children with congenital hyperinsulinism.
Topics: Age of Onset; Congenital Hyperinsulinism; Diabetes Mellitus; Diazoxide; Female; Follow-Up Studies; G | 2016 |
A Case of Subclinical Hypothyroidism with Lingual and Right Pretracheal Ectopic Thyroid.
Topics: Blood Glucose; C-Peptide; Calcium Channel Blockers; Choristoma; Codon, Nonsense; Congenital Hyperins | 2015 |
Nifedipine in Congenital Hyperinsulinism - A Case Report.
Topics: Blood Glucose; C-Peptide; Calcium Channel Blockers; Codon, Nonsense; Congenital Hyperinsulinism; Dia | 2015 |
Use of Long-Acting Somatostatin Analogue (Lanreotide) in an Adolescent with Diazoxide-Responsive Congenital Hyperinsulinism and Its Psychological Impact.
Topics: Adolescent; Blood Glucose; Congenital Hyperinsulinism; Diazoxide; Diuretics; Female; Humans; Hypertr | 2015 |
Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.
Topics: Amino Acid Substitution; Blood Glucose; Congenital Hyperinsulinism; Diazoxide; Fanconi Syndrome; Hep | 2016 |
Assessment of Nifedipine Therapy in Hyperinsulinemic Hypoglycemia due to Mutations in the ABCC8 Gene.
Topics: Calcium Channel Blockers; Child, Preschool; Cohort Studies; Congenital Hyperinsulinism; Diazoxide; D | 2017 |
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
Topics: ATP-Binding Cassette Transporters; Child, Preschool; Congenital Hyperinsulinism; Diazoxide; Female; | 2016 |
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.
Topics: Blood Glucose; Child; Child, Preschool; Congenital Hyperinsulinism; Diazoxide; DNA Mutational Analys | 2017 |
Pulmonary hypertension, heart failure and neutropenia due to diazoxide therapy.
Topics: Congenital Hyperinsulinism; Diazoxide; Female; Heart Failure; Humans; Hypertension, Pulmonary; Infan | 2008 |
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.
Topics: Adenosine Diphosphate; Adult; Aged; Aged, 80 and over; Animals; ATP-Binding Cassette Transporters; C | 2008 |
A lethargic neonate and an infant with seizure.
Topics: Blood Glucose; Congenital Hyperinsulinism; Diazoxide; Glucagon; Glucose; Humans; Hypoglycemia; Infan | 2010 |
Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation.
Topics: Adult; ATP-Binding Cassette Transporters; Child; Congenital Hyperinsulinism; Diabetes Mellitus; Diab | 2010 |
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
Topics: Adolescent; Child; Child, Preschool; Cohort Studies; Congenital Hyperinsulinism; Diazoxide; Female; | 2010 |
Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation.
Topics: Antihypertensive Agents; Congenital Hyperinsulinism; Diazoxide; Female; Homozygote; Humans; India; I | 2010 |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
Topics: ATP-Binding Cassette Transporters; Congenital Hyperinsulinism; Diazoxide; DNA Mutational Analysis; D | 2010 |
A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism.
Topics: Clinical Protocols; Congenital Hyperinsulinism; Diazoxide; Fluorine Radioisotopes; Humans; Infant, N | 2011 |
Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1.
Topics: Antihypertensive Agents; ATP-Binding Cassette Transporters; Congenital Hyperinsulinism; Diazoxide; H | 2011 |
[Congenital hyperinsulinism in the north-east Netherlands. Clinical features and DNA diagnostics in 22 children].
Topics: ATP-Binding Cassette Transporters; Congenital Hyperinsulinism; Diazoxide; DNA Mutational Analysis; F | 2011 |
Lessons in human biology from a monogenic pancreatic β cell disease.
Topics: Congenital Hyperinsulinism; Diazoxide; Humans; Insulin; Insulin Secretion; Islets of Langerhans | 2011 |
In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions.
Topics: ATP-Binding Cassette Transporters; Congenital Hyperinsulinism; Cyclin-Dependent Kinase Inhibitor p57 | 2011 |
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.
Topics: ATP-Binding Cassette Transporters; Congenital Hyperinsulinism; Diazoxide; Gene Deletion; Gene Dosage | 2012 |
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.
Topics: ATP-Binding Cassette Transporters; Child, Preschool; Congenital Hyperinsulinism; Diazoxide; Genes, R | 2013 |
Cognitive and developmental outcome of conservatively treated children with congenital hyperinsulinism.
Topics: Adaptation, Psychological; Antihypertensive Agents; Child; Child Behavior; Child Development; Child, | 2013 |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Topics: ATP-Binding Cassette Transporters; Cohort Studies; Congenital Hyperinsulinism; Diazoxide; Female; Hu | 2013 |
[Congenital hyperinsulinism in 15 infants, 1981-1999; experiences and new insights].
Topics: Blood Glucose; Congenital Hyperinsulinism; Diazoxide; Fatty Acids, Nonesterified; Female; Glucose; H | 2004 |
Persistent hyperinsulinemic hypoglycemia presenting with a rare complication: West syndrome.
Topics: Adrenocorticotropic Hormone; Anticonvulsants; Congenital Hyperinsulinism; Diazoxide; Electroencephal | 2004 |
Ketotic hypoglycaemia in children with diazoxide responsive hyperinsulinism of infancy.
Topics: Congenital Hyperinsulinism; Diazoxide; Humans; Hypoglycemia; Infant, Newborn; Insulin Antagonists; K | 2005 |
Persistent hyperinsulinaemic hypoglycaemia of infancy: 15 years' experience at the Royal Children's Hospital (RCH), Melbourne.
Topics: Adolescent; Child; Child, Preschool; Congenital Hyperinsulinism; Diazoxide; Female; Hospitals, Pedia | 2005 |
The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography.
Topics: Chlorothiazide; Cholecystectomy; Congenital Hyperinsulinism; Diazoxide; Fluorine Radioisotopes; Huma | 2006 |