keyword
MENU ▼
Read by QxMD icon Read
search

Abcc8

keyword
https://www.readbyqxmd.com/read/28929366/a-mild-impairment-of-k-atp-channel-function-caused-by-two-different-abcc8-defects-in-an-italian-newborn
#1
Giulia Romanisio, Alessandro Salina, Concetta Aloi, Maria Cristina Schiaffino, Alfredo Virgone, Giuseppe d'Annunzio
No abstract text is available yet for this article.
September 19, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/28855921/diagnosis-and-treatment-of-hyperinsulinaemic-hypoglycaemia-and-its-implications-for-paediatric-endocrinology
#2
REVIEW
Huseyin Demirbilek, Sofia A Rahman, Gonul Gulal Buyukyilmaz, Khalid Hussain
Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5-5.5 mmol/L. Insulin, the only glucose lowering hormone secreted from pancreatic β-cells, plays the key role in glucose homeostasis. Insulin release from pancreatic β-cells is mainly regulated by intracellular ATP-generating metabolic pathways. Hyperinsulinaemic hypoglycaemia (HH), the most common cause of severe and persistent hypoglycaemia in neonates and children, is the inappropriate secretion of insulin which occurs despite low plasma glucose levels leading to severe and persistent hypoketotic hypoglycaemia...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28843469/a-genotype-first-approach-for-clinical-and-genetic-evaluation-of-wolcott-rallison-syndrome-in-a-large-cohort-of-iranian-patients-with-neonatal-diabetes
#3
Farzaneh Abbasi, Maryam Habibi, Samaneh Enayati, Fatemeh Bitarafan, Maryam Razzaghy-Azar, Aria Sotodeh, Sima Parvizi Omran, Reza Maroofian, Mahsa M Amoli
OBJECTIVE: Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with skeletal dysplasia, growth retardation and liver dysfunction. WRS is caused by biallelic mutations in the gene encoding eukaryotic translation initiation factor 2alpha kinase 3 (EIF2AK3). METHODS: As part of a comprehensive study on clinical and genetic investigation of neonatal diabetes in an Iranian population, 60 unrelated Iranian subjects referred with PNDM were analyzed...
August 23, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28804207/sulfonylurea-treatment-in-an-infant-with-transient-neonatal-diabetes-mellitus-caused-by-an-adenosine-triphosphate-binding-cassette-subfamily-c-member-8-gene-mutation
#4
Masayo Yamazaki, Hideo Sugie, Makiko Oguma, Tohru Yorifuji, Toshihiro Tajima, Takanori Yamagata
Neonatal diabetes mellitus (NDM) is an insulin-requiring monogenic form of diabetes that generally presents before six months of age. The following two types of NDM are known: transient NDM (TNDM) and permanent NDM (PNDM). Here we report on an infant with TNDM caused by a mutation (p.Gly832Cys) of the gene for the ATP binding cassette subfamily C member 8 (ABCC8). The patient exhibited hyperglycemia (600 mg/dL) at five weeks of age and insulin treatment was initiated. As genetic analysis identified a missense mutation within ABCC8, the insulin was replaced by glibenclamide at five months of age...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28794851/expression-of-jazf1-abcc8-kcnj11and-notch2-genes-and-vitamin-d-receptor-polymorphisms-in-type-2-diabetes-and-their-association-with-microvascular-complications
#5
Maha A Rasheed, Nagwa Kantoush, Nagwa Abd El-Ghaffar, Hebatallah Farouk, Solaf Kamel, Alshaymaa Ahmed Ibrahim, Aliaa Shalaby, Eman Mahmoud, Hala M Raslan, Omneya M Saleh
BACKGROUND: We studied JAZF1, ABCC8, KCNJ11and Notch2 gene expression and vitamin D receptor (VDR) polymorphisms (Fok1 and Bsm1) in patients with type 2 diabetes mellitus (T2DM) and tried to find out their association with microvascular complications in these patients. METHODS: The study was conducted on 180 patients (93 complicated and 87 noncomplicated) and 150 healthy subjects. Reverse-transcriptase polymerase chain reaction (RT-PCR) was used to assess gene expression and real-time PCR was used to detect VDR genotypes...
June 2017: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28791793/early-transition-from-insulin-to-sulfonylureas-in-neonatal-diabetes-and-follow-up-experience-from-china
#6
Xiuzhen Li, Aijing Xu, Huiying Sheng, Tzer Hwu Ting, Xiaojian Mao, Xinjiang Huang, Minyan Jiang, Jing Cheng, Li Liu
BACKGROUND: Sulfonylurea therapy can improve glycemic control and ameliorate neurodevelopmental outcomes in patients suffering from neonatal diabetes mellitus (NDM) with KCNJ11 or ABCC8 mutations. As genetic testing results are often delayed, it remains controversial whether sulfonylurea treatment should be attempted immediately at diagnosis or doctors should await genetic confirmation. OBJECTIVE: This study aimed to investigate the effectiveness and safety of sulfonylurea therapy in Chinese NDM patients during infancy before genetic testing results were available...
August 8, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28777862/-abcc8-gene-analysis-treatment-and-follow-up-of-an-infant-with-neonatal-diabetes-mellitus
#7
Hong Chen, Ruimin Chen, Xin Yuan, Xiaohong Yang, Shijun Chen
OBJECTIVE: To analyze the clinical characteristics of an infant with neonatal diabetes mellitus (NDM) and to sequence the ABCC8 gene of this family in order to provide a theoretical basis for the diagnosis and treatment. METHODS: The clinical data of the patient was collected, and the proband and his direct relatives within three generations were sequenced. RESULTS: The patient was 1-month-old, random blood glucose was more than 27.8 mmol/L, C-peptide was 33...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28757749/successful-treatment-of-a-newborn-with-congenital-hyperinsulinism-having-a-novel-heterozygous-mutation-in-the-abcc8-gene-using-subtotal-pancreatectomy
#8
Chi-Feng Yen, Chi-Yu Huang, Chon-In Chan, Chiung-Hsing Hsu, Nien-Lu Wang, Tao-Yeuan Wang, Chiung-Ling Lin, Wei-Hsin Ting
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newborns and infants. CHI is characterized by unregulated secretion of insulin from pancreatic β: cells. Here, we reported the case of a large-for-gestational-age, full-term newborn that suffered from CHI and developed severe and persistent hypoglycemia at an early stage of life. The infant was nearly unresponsive to medical treatment, which included continuous intravenous glucagon infusion, oral diazoxide, and nifedipine...
October 2016: Ci Ji Yi Xue za Zhi, Tzu-chi Medical Journal
https://www.readbyqxmd.com/read/28752386/glycolate-oxidase-deficiency-in-a-patient-with-congenital-hyperinsulinism-and-unexplained-hyperoxaluria
#9
Oliver Clifford-Mobley, Gill Rumsby, Swati Kanodia, Mohammed Didi, Richard Holt, Senthil Senniappan
BACKGROUND: A baby girl was born at 39 weeks gestation to consanguineous Asian parents. From day 1 of life she had severe hypoglycaemia with an inappropriately elevated insulin concentration consistent with congenital hyperinsulinism (CHI), confirmed by the finding of a homozygous mutation in ABCC8 (encoding the sulfonylurea receptor 1). CASE DIAGNOSIS/TREATMENT: Urine organic acid analysis showed an incidentally elevated excretion of glycolate. Whilst this was unlikely to contribute to the hypoglycaemia, hyperglycolic aciduria is a known feature of primary hyperoxaluria type 1 (PH1); therefore oxalate was also measured in urine and found to be elevated...
July 27, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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
#10
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
#11
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
#12
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
#13
Monica Gabbay, Sian Ellard, Elisa De Franco, Regina S Moisés
Neonatal diabetes, defined as 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...
September 1, 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
#14
Sarah E Flanagan, Vũ Chí Dũng, Jayne A L Houghton, Elisa De Franco, Can Thi Bich Ngoc, Annet Damhuis, Frances M Ashcroft, Lorna W Harries, Sian Ellard
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...
September 1, 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
#15
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
#16
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
#17
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
#18
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 pancreatic polypeptide cells but not to α- or δ-cells. RNA-sequencing analysis of FACS-purified Abcc8(-/-) β-cells confirmed an increase in Ppy gene expression and revealed altered expression of more than 4,200 genes, many of which are involved in Ca(2+) signaling, the maintenance of β-cell identity, and cell adhesion...
August 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
#19
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
#20
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
keyword
keyword
111494
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"