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https://www.readbyqxmd.com/read/27921429/-congenital-hyperinsulinism-loss-of-b-cell-self-control
#1
Jan Lebl, Klára Roženková, Štěpánka Průhová
Congenital hyperinsulinism is a serious blood glucose regulation defect that interferes with brain development, leading to mental retardation, neurological sequelae and secondary epilepsy and ultimately may be life-threatening. Congenital hyperinsulinism (CHI) is caused by genetic defects of regulation of insulin secretion that induce insulin oversecretion in intrauterine life and postnatally. The clinical consequence is fetal macrosomia and subsequently neonatal and infantile hypoglycaemia. The most severe form is caused by biallelic mutations of KCNJ11 and ABCC8 genes that encode both potassium channel subunits, whereas their heterozygous mutations as well as enzymatic defects (GLUD1, HADH, GCK) lead to milder presentation...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27908292/conservatively-treated-congenital-hyperinsulinism-chi-due-to-k-atp-channel-gene-mutations-reducing-severity-over-time
#2
Maria Salomon-Estebanez, Sarah E Flanagan, Sian Ellard, Lindsey Rigby, Louise Bowden, Zainab Mohamed, Jacqueline Nicholson, Mars Skae, Caroline Hall, Ross Craigie, Raja Padidela, Nuala Murphy, Tabitha Randell, Karen E Cosgrove, Mark J Dunne, Indraneel Banerjee
BACKGROUND: Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural history of medically treated K-ATP CHI has not been described; it is unclear if the severity of recessively and dominantly inherited K-ATP CHI reduces over time. We aimed to review variation in severity and outcomes in patients with K-ATP CHI treated by medical therapy. METHODS: Twenty-one consecutively presenting patients with K-ATP CHI with dominantly and recessively inherited mutations in ABCC8/KCNJ11 were selected in a specialised CHI treatment centre to review treatment outcomes...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27898257/assessment-of-nifedipine-therapy-in-hyperinsulinemic-hypoglycemia-due-to-mutations-in-the-abcc8-gene
#3
M Güemes, P Shah, S Silvera, K Morgan, C Gilbert, L Hinchey, K Hussain
CONTEXT: Previous case reports have documented the effectiveness of L-type calcium channel blockers (such as Nifedipine and Verapamil) for treating different forms of hyperinsulinemic hypoglycemia (HH). OBJECTIVE: To systematically assess the glycemic response to Nifedipine therapy in 11 patients with HH due to mutations in the ABCC8 gene. DESIGN: Dose escalation of Nifedipine therapy Setting: Inpatients at a tertiary hospital Patients or Other Participants: 11 children with diazoxide unresponsive HH due to mutations in the ABCC8 gene...
November 29, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27855235/sirolimus-therapy-in-a-child-with-partially-diazoxide-responsive-hyperinsulinaemic-hypoglycaemia
#4
Kah-Yin Loke, Andrew Sng Anjian, Yvonne Lim Yijuan, Cindy Ho Wei Li, Maria Güemes, Khalid Hussain
: Hyperinsulinaemic hypoglycaemia (HH), which causes persistent neonatal hypoglycaemia, can result in neurological damage and it's management is challenging. Diazoxide is the first-line treatment, albeit not all patients will fully respond to it, as episodes of hypoglycaemia may persist and it entails unpleasant adverse effects. Sirolimus, an mTOR inhibitor, has reportedly been successful in treating children with severe diffuse HH, thus obviating the need for pancreatectomy. We report a girl with HH, with a novel heterozygous ABCC8 gene missense mutation (c...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27850376/738-abcc8-tag-single-nucleotide-polymorphisms-correlate-with-edema-and-outcome-in-traumatic-brain-injury
#5
Ruchira Jha, Ava Puccio, David Okonkwo, Benjamin Zusman, Jessica Wallisch, Lori Shutter, Patrick Kochanek, Yvette Conley
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27849623/successful-transition-to-sulfonylurea-therapy-in-two-iraqi-siblings-with-neonatal-diabetes-mellitus-and-idend-syndrome-due-to-abcc8-mutation
#6
Elif Ozsu, Dinesh Giri, Gulcan Seymen Karabulut, Senthil Senniappan
Neonatal diabetes is a rare form of monogenic diabetes characterised by persistent hyperglycaemia during the first 6-9 months of age. About half of the cases of neonatal diabetes are transient forms resulting from mutations in the genes in the imprinted region of chromosome 6q24 and the other half are permanent forms. Activating mutations in the potassium ATP (KATP) channels encoded by the genes KCNJ11 and ABCC8 are responsible for the majority of permanent neonatal diabetes mellitus (PNDM). Mutations in KATP channels can be associated with Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27810688/clinical-whole-exome-sequencing-in-early-onset-diabetes-patients
#7
Soo Heon Kwak, Chan-Hyeon Jung, Chang Ho Ahn, Jungsun Park, Jeesoo Chae, Hye Seung Jung, Young Min Cho, Dae Ho Lee, Jong-Il Kim, Kyong Soo Park
AIMS: There could be an overlap of monogenic diabetes and early onset type 2 diabetes in those who are diagnosed before age of 30years. Genetic diagnosis in these patients might improve the quality of care. A limited number of studies have used whole exome sequencing (WES) in Asian patients with early onset diabetes, and the clinical utility of WES is largely unknown. METHODS: We performed whole exome capture and massive parallel sequencing in 28 patients with early onset diabetes...
October 15, 2016: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27809389/epidemiology-clinical-characteristics-and-genetic-etiology-of-neonatal-diabetes-in-japan
#8
Kazuaki Nagashima, Daisuke Tanaka, Nobuya Inagaki
Neonatal diabetes mellitus (NDM) is a rare but potentially devastating metabolic disorder, with reported incidence of one per 300,000-500,000 births generally, and hyperglycemia develops within the first 6 months of life (1-4). NDM is classified into two categories clinically. One is transient NDM (TNDM), in which insulin secretion is spontaneously recovered by several months of age, but sometimes recurs later, and the other is permanent NDM (PNDM), requiring lifelong medication. Recent molecular analysis of NDM identified at least 12 genetic abnormalities: chromosome 6q24, KCNJ11, ABCC8, INS, FOXP3, GCK, IPF1, PTF1A, EIF2AK3, GLUT2, HNF1β, and GLIS3 (5-22)...
November 3, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27786288/an-inhibitor-of-fibroblast-growth-factor-receptor-1-fgfr1-promotes-late-stage-terminal-differentiation-from-ngn3-pancreatic-endocrine-progenitors
#9
Yzumi Yamashita-Sugahara, Masahito Matsumoto, Manami Ohtaka, Ken Nishimura, Mahito Nakanishi, Kohnosuke Mitani, Yasushi Okazaki
Human induced pluripotent stem cells (hiPSCs) provide a potential resource for regenerative medicine. To identify the signalling pathway(s) contributing to the development of functional β cells, we established a tracing model consisting of dual knock-in hiPSCs (INS-Venus/NGN3-mCherry) (hIveNry) expressing the fluorescent proteins Venus and mCherry under the control of intrinsic insulin (INS) and neurogenin 3 (NGN3) promoters, respectively. hIveNry iPSCs differentiated into NGN3- and mCherry-positive endocrine progenitors and then into Venus-positive β cells expressing INS, PDX1, NKX6...
October 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27780984/a-case-of-transient-neonatal-diabetes-due-to-a-novel-mutation-in-abcc8
#10
Masaki Takagi, Ryojun Takeda, Hiroko Yagi, Daisuke Ariyasu, Ryuji Fukuzawa, Tomonobu Hasegawa
No abstract text is available yet for this article.
October 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27771675/hyperinsulinemic-hypoglycemia-of-infancy-due-to-novel-hadh-mutation-in-two-siblings
#11
Amit Kumar Satapathy, Vandana Jain, Sian Ellard, Sarah E Flanagan
BACKGROUND: Hyperinsulinemia is the commonest cause of persistent hypoglycemia in infancy. Inactivating mutations in the genes ABCC8 and KCNJ11 are the commonest cause. Mutation in the HADH gene, which encodes the short-chain-L-3-hydroxyacyl-CoA dehydrogenase, is a rare cause. CASE CHARACTERISTICS: Two Indian sisters who presented with hyperinsulinemic hypoglycemia of infancy. OBSERVATION/INTERVENTION: A novel homozygous missense mutation in the HADH gene was identified in both the sisters, while the parents were found to be heterozygous carriers...
October 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27754802/diagnosis-of-abcc8-congenital-hyperinsulinism-of-infancy-in-a-20-year-old-man-evaluated-for-factitious-hypoglycemia
#12
Amichai Gutgold, David J Gross, Benjamin Glaser, Auryan Szalat
CONTEXT: Hypoglycemia is a rare event in healthy adults, and the differential diagnosis includes many diseases some of which are rare and easily missed. Description of the case: A 20 year-old male military paramedic was referred to our Emergency Department for the investigation of recurrent hypoglycemia episodes during the last months. Factitious hypoglycemia was excluded and organic hyperinsulinemic hypoglycemia was diagnosed by prolonged fast. Imaging studies (endoscopic ultrasound and triple-phase computed tomography) were normal...
October 18, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27682711/genetic-characteristics-and-long-term-follow-up-of-11-patients-with-congenital-hyperinsulinism-followed-in-a-single-center
#13
Katharina Warncke, Franziska Falco, Wolfgang Rabl, Ilse Engelsberger, Julia Saier, David Flores-Rodriguez, Stefan Burdach, Walter Bonfig
BACKGROUND: Congenital hyperinsulinism (CHI) is a rare disease with an estimated incidence of 1:40,000 live births. Here, we characterize 11 patients treated at Munich Children's Hospital Schwabing. METHODS: We analyzed data on birth, treatment and laboratory results including genetic testing and evaluated the long-term course with a follow-up visit. RESULTS: All patients had severe, diazoxide-(DZX)-resistant hypoglycemia, beginning immediately after birth...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27681997/molecular-and-clinical-features-of-katp-channel-neonatal-diabetes-mellitus-in-japan
#14
Yukiko Hashimoto, Sumito Dateki, Masakazu Hirose, Kenichi Satomura, Hirotake Sawada, Haruo Mizuno, Shigetaka Sugihara, Koichi Maruyama, Tatsuhiko Urakami, Hidenori Sugawara, Kenji Shirai, Tohru Yorifuji
BACKGROUND: There are few reports pertaining to Asian patients with neonatal diabetes mellitus (NDM) caused by activating mutations in the ATP-sensitive potassium channel genes (KATP-NDM). OBJECTIVES: To elucidate the characteristics of Japanese patients with KATP-NDM. METHODS: By the amplification and direct sequencing of all exons and exon-intron boundaries of the KCNJ11 and ABCC8 genes, 25 patients with KATP-NDM were identified from a total of 70 patients with NDM...
September 29, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27677908/abcc8-single-nucleotide-polymorphisms-are-associated-with-cerebral-edema-in-severe-tbi
#15
Ruchira M Jha, Ava M Puccio, David O Okonkwo, Benjamin E Zusman, Seo-Young Park, Jessica Wallisch, Philip E Empey, Lori A Shutter, Robert S B Clark, Patrick M Kochanek, Yvette P Conley
OBJECTIVE: Cerebral edema (CE) in traumatic brain injury (TBI) is the consequence of multiple underlying mechanisms and is associated with unfavorable outcomes. Genetic variability in these pathways likely explains some of the clinical heterogeneity observed in edema development. A role for sulfonylurea receptor-1 (Sur1) in CE is supported. However, there are no prior studies examining the effect of genetic variability in the Sur1 gene (ABCC8) on the development of CE. We hypothesize that ABCC8 single nucleotide polymorphisms (SNPs) are predictive of CE...
September 27, 2016: Neurocritical Care
https://www.readbyqxmd.com/read/27597269/predictive-modeling-of-tacrolimus-dose-requirement-based-on-high-throughput-genetic-screening
#16
C Damon, M Luck, L Toullec, I Etienne, M Buchler, B Hurault de Ligny, G Choukroun, A Thierry, C Vigneau, B Moulin, A-E Heng, J-F Subra, C Legendre, A Monnot, A Yartseva, M Bateson, P Laurent-Puig, D Anglicheau, P Beaune, M A Loriot, E Thervet, N Pallet
Any biochemical reaction underlying drug metabolism depends on individual gene-drug interactions and on groups of genes interacting together. Based on a high-throughput genetic approach, we sought to identify a set of covariant single-nucleotide polymorphisms predictive of interindividual tacrolimus (Tac) dose requirement variability. Tac blood concentrations (Tac C0 ) of 229 kidney transplant recipients were repeatedly monitored after transplantation over 3 mo. Given the high dimension of the genomic data in comparison to the low number of observations and the high multicolinearity among the variables (gene variants), we developed an original predictive approach that integrates an ensemble variable-selection strategy to reinforce the stability of the variable-selection process and multivariate modeling...
September 6, 2016: American Journal of Transplantation
https://www.readbyqxmd.com/read/27573238/pharmacological-correction-of-trafficking-defects-in-atp-sensitive-potassium-channels-caused-by-sulfonylurea-receptor-1-mutations
#17
Gregory M Martin, Emily A Rex, Prasanna Devaraneni, Jerod S Denton, Kara E Boodhansingh, Diva D DeLeon, Charles A Stanley, Show-Ling Shyng
ATP-sensitive potassium (KATP) channels play a key role in mediating glucose-stimulated insulin secretion by coupling metabolic signals to β-cell membrane potential. Loss of KATP channel function due to mutations in ABCC8 or KCNJ11, genes encoding the sulfonylurea receptor 1 (SUR1) or the inwardly rectifying potassium channel Kir6.2, respectively, results in congenital hyperinsulinism. Many SUR1 mutations prevent trafficking of channel proteins from the endoplasmic reticulum to the cell surface. Channel inhibitors, including sulfonylureas and carbamazepine, have been shown to correct channel trafficking defects...
October 14, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27562702/in%C3%A2-vitro-effect-of-nicorandil-on-the-carbachol-induced-contraction-of-the-lower-esophageal-sphincter-of-the-rat
#18
Tomonori Shimbo, Takeshi Adachi, Susumu Fujisawa, Mai Hongoh, Takayoshi Ohba, Kyoichi Ono
The lower esophageal sphincter (LES) is a specialized region of the esophageal smooth muscle that allows the passage of a swallowed bolus into the stomach. Nitric oxide (NO) plays a major role in LES relaxation. Nicorandil possesses dual properties of a NO donor and an ATP-sensitive potassium channel (KATP channel) agonist, and is expected to reduce LES tone. This study investigated the mechanisms underlying the effects of nicorandil on the LES. Rat LES tissues were placed in an organ bath, and activities were recorded using an isometric force transducer...
August 2016: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/27538677/abcc8-related-maturity-onset-diabetes-of-the-young-mody12-clinical-features-and-treatment-perspective
#19
Alla K Ovsyannikova, Oksana D Rymar, Elena V Shakhtshneider, Vadim V Klimontov, Elena A Koroleva, Natalya E Myakina, Mikhail I Voevoda
Maturity-onset diabetes of the young (MODY) is a heterogeneous group of diseases associated with gene mutations leading to dysfunction of pancreatic β-cells. Thirteen identified MODY variants differ from each other by the clinical course and treatment requirement. Currently, MODY subtypes 1-5 are best-studied, descriptions of the other forms are sporadic. This article reports a MODY12 clinical case, caused by a mutation in the gene of the ATP-binding cassette transporter sub-family C member 8 (ABCC8), encoding sulfonylurea receptor 1...
September 2016: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/27347941/computational-analysis-of-single-nucleotide-polymorphisms-associated-with-altered-drug-responsiveness-in-type-2-diabetes
#20
Valerio Costa, Antonio Federico, Carla Pollastro, Carmela Ziviello, Simona Cataldi, Pietro Formisano, Alfredo Ciccodicola
Type 2 diabetes (T2D) is one of the most frequent mortality causes in western countries, with rapidly increasing prevalence. Anti-diabetic drugs are the first therapeutic approach, although many patients develop drug resistance. Most drug responsiveness variability can be explained by genetic causes. Inter-individual variability is principally due to single nucleotide polymorphisms, and differential drug responsiveness has been correlated to alteration in genes involved in drug metabolism (CYP2C9) or insulin signaling (IRS1, ABCC8, KCNJ11 and PPARG)...
2016: International Journal of Molecular Sciences
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