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https://www.readbyqxmd.com/read/28740482/both-low-blood-glucose-and-insufficient-treatment-confer-risk-of-neurodevelopmental-impairment-in-congenital-hyperinsulinism-a-multinational-cohort-study
#1
Annett Helleskov, Maria Melikyan, Evgenia Globa, Inna Shcherderkina, Fani Poertner, Anna-Maria Larsen, Karen Filipsen, Klaus Brusgaard, Charlotte Dahl Christiansen, Lars Kjaersgaard Hansen, Henrik T Christesen
BACKGROUND/AIMS: Congenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the two major histological types. CHI confers a high risk of neurological impairment; however, sparsely studied in larger patient series. We assessed the neurodevelopmental outcome in children with CHI at follow-up in a mixed international cohort...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28685055/identification-of-genetic-variants-in-pharmacogenetic-genes-associated-with-type-2-diabetes-in-a-mexican-mestizo-population
#2
Nidia Samara Rodríguez-Rivera, Patricia Cuautle-Rodríguez, Fernando Castillo-Nájera, Juan Arcadio Molina-Guarneros
Type 2 diabetes mellitus (T2DM) is one of the most prevalent chronic pathologies in the world. In developing countries, such as Mexico, its prevalence represents an important public health and research issue. Determining factors triggering T2DM are environmental and genetic. While diet, exercise and proper weight control are the first measures recommended to improve the quality of life and life expectancy of patients, pharmacological treatment is usually the next step. Within every population there are variations in interindividual drug response, which may be due to genetic background...
July 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28667717/clinical-and-molecular-characterization-of-children-with-neonatal-diabetes-mellitus-at-a-tertiary-care-center-in-northern-india
#3
Vandana Jain, Amit Satapathy, Jaivinder Yadav, Rajni Sharma, Venkatesan Radha, Viswanathan Mohan, Elisa De Franco, Sian Ellard
OBJECTIVE: To study the genetic mutations and clinical profile in children with neonatal diabetes mellitus. METHODS: Genetic evaluation, clinical management and follow-up of infants with neonatal diabetes. RESULTS: Eleven infants were studied of which eight had permanent neonatal diabetes. Median age at presentation was 8 weeks and mean (SD) birth weight was 2.4 (0.5) kg. Pathogenic genetic mutations were identified in 7 (63.6%) children; 3 infants with mutations in KCNJ11 gene and 1 in ABCC8 were switched to oral sulfonylureas; 2 infants had mutations in INS and 1 in ZFP57...
June 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28663161/pancreatic-agenesis-due-to-compound-heterozygosity-for-a-novel-enhancer-and-truncating-mutation-in-the-ptf1a-gene
#4
Monica Gabbay, Sian Ellard, Elisa De Franco, Regina S Moises
Neonatal diabetes, defined by the onset of diabetes within the first six months of life, is very rarely caused by pancreatic agenesis. Homozygous truncating mutations in the PTF1A gene, which encodes a transcriptional factor, have been reported in patients with pancreatic and cerebellar agenesis, whilst mutations located in a distal pancreatic-specific enhancer cause isolated pancreatic agenesis. We report an infant, born to healthy non-consanguineous parents, with neonatal diabetes due to pancreatic agenesis...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28663158/an-abcc8-nonsense-mutation-causing-neonatal-diabetes-through-altered-transcript-expression
#5
Sarah Flanagan, Vũ Chí Dũng, Jayne Houghton, Elisa De Franco, Can Thi Bich Ngoc, Annet Damhuis, Frances Ashcroft, Lorna Harries, Sian Ellard
OBJECTIVE: The pancreatic ATP-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes whilst loss-of-function mutations in these genes result in congenital hyperinsulinism. We report two patients with neonatal diabetes in whom we unexpectedly identified recessively inherited loss-of-function mutations. The aim of this study was to investigate how a homozygous nonsense mutation in ABCC8 could result in neonatal diabetes...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28600547/modeling-congenital-hyperinsulinism-with-abcc8-deficient-human-embryonic-stem-cells-generated-by-crispr-cas9
#6
Dongsheng Guo, Haikun Liu, Aynisahan Ruzi, Ge Gao, Abbas Nasir, Yanli Liu, Fan Yang, Feima Wu, Guosheng Xu, Yin-Xiong Li
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by excess insulin secretion, which results in hypoglycemia. Mutation of sulfonylurea receptor 1 (SUR1), encoded by the ABCC8 gene, is the main cause of CHI. Here, we captured the phenotype of excess insulin secretion through pancreatic differentiation of ABCC8-deficient stem cells generated by the CRISPR/Cas9 system. ABCC8-deficient insulin-producing cells secreted higher insulin than their wild-type counterparts, and the excess insulin secretion was rescued by nifedipine, octreotide and nicorandil...
June 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28587604/kcnj11-abcc8-and-tcf7l2-polymorphisms-and-the-response-to-sulfonylurea-treatment-in-patients-with-type-2-diabetes-a-bioinformatics-assessment
#7
Jingwen Song, Yunzhong Yang, Franck Mauvais-Jarvis, Yu-Ping Wang, Tianhua Niu
BACKGROUND: Type 2 diabetes (T2D) is a worldwide epidemic with considerable health and economic consequences. Sulfonylureas are widely used drugs for the treatment of patients with T2D. KCNJ11 and ABCC8 encode the Kir6.2 (pore-forming subunit) and SUR1 (regulatory subunit that binds to sulfonylurea) of pancreatic β cell KATP channel respectively with a critical role in insulin secretion and glucose homeostasis. TCF7L2 encodes a transcription factor expressed in pancreatic β cells that regulates insulin production and processing...
June 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28577450/n-acetylcysteine-induced-vasodilatation-is-modulated-by-katp-channels-na-k-atpase-activity-and-intracellular-calcium-concentration-an-in-vitro-study
#8
Özden Vezir, Ülkü Çömelekoğlu, Nehir Sucu, Ali Erdinç Yalın, Şakir Necat Yılmaz, Serap Yalın, Fatma Söğüt, Selma Yaman, Kezban Kibar, Merih Akkapulu, Meryem İlkay Koç, Didem Seçer
BACKGROUND: In this study, we aimed to investigate the role of ATP-sensitive potassium (KATP) channel, Na(+)/K(+)-ATPase activity, and intracellular calcium levels on the vasodilatory effect of N-acetylcysteine (NAC) in thoracic aorta by using electrophysiological and molecular techniques. METHODS: Rat thoracic aorta ring preparations and cultured thoracic aorta cells were divided into four groups as control, 2mM NAC, 5mM NAC, and 10mM NAC. Thoracic aorta rings were isolated from rats for measurements of relaxation responses and Na(+)/K(+)-ATPase activity...
March 31, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/28550109/chronic-%C3%AE-cell-depolarization-impairs-%C3%AE-cell-identity-by-disrupting-a-network-of-ca-2-regulated-genes
#9
Jennifer S Stancill, Jean-Philippe Cartailler, Hannah W Clayton, James T O'Connor, Matthew T Dickerson, Prasanna K Dadi, Anna B Osipovich, David A Jacobson, Mark A Magnuson
We used mice lacking Abcc8, a key component of the β-cell KATP-channel, to analyze the effects of a sustained elevation in the intracellular Ca(2+) concentration ([Ca(2+)]i) on β-cell identity and gene expression. Lineage tracing analysis revealed the conversion of β-cells lacking Abcc8 into PP-cells, but not to α- or δ-cells. RNA-Seq analysis of FACS-purified Abcc8(-/-) β-cells confirmed an increase in Ppy gene expression, and revealed altered expression of over 4,200 genes, many of which are involved in Ca(2+)-signaling, the maintenance of β-cell identity, and cell adhesion...
May 26, 2017: Diabetes
https://www.readbyqxmd.com/read/28540314/neonatal-diabetes-case-report-of-a-9-week-old-presenting-diabetic-ketoacidosis-due-to-an-activating-abcc8-gene-mutation
#10
Shawn Sood, Hannah Landreth, Jessee Bustinza, Laura Chalmers, Roopa Thukaram
Context: Neonatal diabetes mellitus, a rare condition occurring in approximately 1 in 500 000 live births, is defined as insulin-requiring hyperglycemia presenting in the first months of life. Neonatal diabetes can be transient or permanent, with studies characterizing the condition as a monogenic disorder. Case Report: We describe a case of a 9-week-old infant with neonatal diabetes who presented in diabetic ketoacidosis due to a mutation affecting the ABCC8 gene that encodes the SUR1 subunit of the potassium ATP channel...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28511139/a-successful-transition-to-sulfonylurea-treatment-in-male-infant-with-neonatal-diabetes-caused-by-the-novel-abcc8-gene-mutation-and-three-years-follow-up
#11
Dragan Katanic, Ivana Vorgučin, Andrew Hattersley, Sian Ellard, Jayne A L Houghton, Dragana Obreht, Marija Knežević Pogančev, Jovan Vlaški, Danijela Pavkov
Neonatal diabetes mellitus is a rare monogenic disease with incidence of 1/90,000 newborns. A case of two months aged male infant with life threatening diabetic ketoacidosis is presented with novel ABCC8 gene mutation (p.F577L), successful transition from insulin to sulfonylurea and follow-up of three years.
July 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28508606/surgery-in-focal-congenital-hyperinsulinism-chi-the-hyperinsulinism-germany-international-experience-in-30-children
#12
Winfried Barthlen, Emine Varol, Susann Empting, Ilse Wieland, Martin Zenker, Wolfgang Mohnike, Silke Vogelgesang, Klaus Mohnike
OBJECTIVES: Results of surgery for focal CHI in 30 children PATIENTS AND METHODS: All showed an ABCC8 or KCNJ11 mutation. After PET/CT in 29 children and PET/MRT in 1 case, frozen-section guided resection was performed, in left-sided cases by laparoscopy. Mean age at surgery was 11.7 months (2-49). RESULTS: In 28/30 children, the PET/CT or MRT correlated with histopathology. In two cases, a focal lesion was undectable; one of these was cured, one not. In total, 24 children showed lesions with sizes of 5-12 mm...
December 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28458900/congenital-hyperinsulinism-and-poland-syndrome-in-association-with-10p13-14-duplication
#13
Dinesh Giri, Prashant Patil, Rachel Hart, Mohammed Didi, Senthil Senniappan
SUMMARY: 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...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28439221/congenital-hyperinsulinism-caused-by-a-de-novo-mutation-in-the-abcc8-gene-a-case-report
#14
Zsuzsanna Molnár, Lfdia Balogh, János Kappelmayer, László Madar, Éva Gombos, István Balogh
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss. Here we report a case of a term male infant presented with severe hyperinsulinaemic hypoglycaemia. Gene panel testing was performed to give rapid genetic diagnosis...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28411266/genetic-variation-at-the-sulfonylurea-receptor-type-2-diabetes-and-coronary-heart-disease
#15
Connor A Emdin, Derek Klarin, Pradeep Natarajan, Jose C Florez, Sekar Kathiresan, Amit V Khera
Despite widespread clinical use in the treatment of type 2 diabetes, the impact of sulfonylurea therapy on cardiovascular outcomes remains uncertain. Studies of naturally occurring genetic variation can be used to anticipate the expected clinical consequences of a pharmacologic therapy. A common missense variant in the gene encoding a component of the sulfonylurea receptor (ABCC8 p.A1369S) promotes closure of the target channel of sulfonylurea therapy and is associated with increased insulin secretion, thus mimicking the effects of sulfonylurea therapy...
April 14, 2017: Diabetes
https://www.readbyqxmd.com/read/28350539/personalized-precision-medicine-in-extreme-preterm-infants-with-transient-neonatal-diabetes-mellitus
#16
Ranjit I Kylat, Rajan Senguttuvan, Mohammed Y Bader
Although hyperglycemia is common in neonates, especially preterm infants, a diagnosis of neonatal diabetes mellitus (NDM) is rarely made. NDM can be permanent (45%), transient (45%) or syndromic (10%). Of the 95% of identifiable mutations for NDM, methylation defects in 6q24, KCNJ11, ABCC8, and INS account for the majority. Two cases of transient NDM in extremely preterm, 24 weeks' gestational age (GA) triplets, due to a missense mutation c.685G>A in the KCNJ11 gene are presented. Both patients were successfully transitioned from insulin to Glyburide (Glibenclamide) at 2 months of age...
May 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28328534/clinical-presentation-and-treatment-response-to-diazoxide-in-two-siblings-with-congenital-hyperinsulinism-as-a-result-of-a-novel-compound-heterozygous-abcc8-missense-mutation
#17
Sonya Galcheva, Violeta Iotova, Sian Ellard, Sarah E Flanagan, Irina Halvadzhiyan, Chayka Petrova, Khalid Hussain
BACKGROUND: Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) and marked clinical heterogeneity caused by compound heterozygosity for the same two novel ABCC8 mutations. CASE PRESENTATION: The index patient is a 3-year-old boy with hypoglycaemic episodes presenting on the first day of life. HH was diagnosed and treatment with intravenous glucose and diazoxide was initiated...
April 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28270372/congenital-hyperinsulinism-in-china-a-review-of-chinese-literature-over-the-past-15-years
#18
Wang Weiyan, Sun Yi, Zhao Wenting, Wu Tai, Wang Liang, Yuan Tianming, Yu Huimin
OBJECTIVE: The present study is investigated the clinical presentation, therapeutic outcomes and genetic mutations of CHI in Chinese individuals over the past 15 years. METHODS: The authors retrospectively reviewed one case in the department and 206 cases reported from January 2002 to October 2016 in China from PubMed, Ovid Medline, Springer and Wanfang Database, CBMD database and CKNI database. RESULTS: In total, 207 cases were recruited: 100 cases (48...
March 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28173619/hyperglycaemia-related-complications-at-the-time-of-diagnosis-can-cause-permanent-neurological-disability-in-children-with-neonatal-diabetes
#19
J O Day, S E Flanagan, M H Shepherd, A W Patrick, N Abid, L Torrens, A J Zeman, K A Patel, A T Hattersley
BACKGROUND: Children with neonatal diabetes often present with diabetic ketoacidosis and hence are at risk of cerebral oedema and subsequent long-term neurological deficits. These complications are difficult to identify because neurological features can also occur as a result of the specific genetic aetiology causing neonatal diabetes. CASE REPORTS: We report two cases of neonatal diabetes where ketoacidosis-related cerebral oedema was the major cause of their permanent neurological disability...
July 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28123437/a-case-series-congenital-hyperinsulinism
#20
Mohammad Reza Alaei, Susan Akbaroghli, Mohammad Keramatipour, Ali Alaei
INTRODUCTION: Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease...
October 2016: International Journal of Endocrinology and Metabolism
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