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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
#1
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...
March 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28277120/valuable-predictors-of-gestational-diabetes-mellitus-in-infertile-chinese-women-with-polycystic-ovary-syndrome-a-prospective-cohort-study
#2
Hexia Xia, Ruixiu Zhang, Xiaoli Sun, Lu Wang, Wei Zhang
OBJECTIVE: This study aimed to explore valuable preconception predictors of gestational diabetes mellitus (GDM) in PCOS patients. METHODS: A prospective cohort study enrolling infertile Chinese PCOS women treated with ovulation induction was performed. The endocrine, metabolic and physical features of all the patients were collected before pregnancy and then followed up to 6 weeks after delivery. The prevalence of GDM was determined during 24-28 gestational weeks...
February 28, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28270372/congenital-hyperinsulinism-in-china-a-review-of-chinese-literature-over-the-past-15-years
#3
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/28247534/heterogeneity-in-phenotype-of-hyperinsulinism-caused-by-activating-glucokinase-mutations-a-novel-mutation-and-its-functional-characterization
#4
Rosa Martínez, Ángel Gutierrez-Nogués, Concepción Fernández-Ramos, Teresa Velayos, Amaia Vela, María-Ángeles Navas, Luis Castaño
BACKGROUND: Mutations in the GCK gene lead to different forms of GCK-disease, activating mutations cause hyperinsulinemic hypoglycemia while inactivating mutations cause monogenic diabetes. Hyperinsulinism (HI) is a heterogeneous condition with a significant genetic component. The major causes are channelopathies, the other forms are rare and being caused by mutations in genes such as GCK. OBJECTIVE: To describe the clinical and genetic presentation of four families with activating GCK mutations, and to explore the pathogenicity of the novel mutation identified through functional studies...
March 1, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28242437/congenital-hyperinsulinism-and-glycogenosis-like-phenotype-due-to-a-novel-hnf4a-mutation
#5
Juraj Stanik, Martina Skopkova, Katarina Brennerova, Daniel Danis, Monika Rosolankova, Anna Salingova, Vladimir Bzduch, Iwar Klimes, Daniela Gasperikova
AIM: Congenital hyperinsulinism (CHI) and glycogen storage disease (glycogenosis) are both causing hypoglycemia during infancy, but with different additional clinical features and therapeutic approach. We aimed to identify a genetic cause in a child with an ambiguous phenotype. METHODS AND RESULTS: We present a child with hyperinsulinemic hypoglycemia, physiological 3-OH butyrate, increased triglyceride serum levels, increased level of glycogen in erythrocytes, increased liver transaminases, and increased echogenicity on liver ultrasonography...
February 16, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28225638/laparoscopic-resection-of-pancreatic-tumors-in-children-results-of-a-multicentric-survey
#6
Ciro Esposito, Pascal De Lagausie, Maria Escolino, Amulya Saxena, George W Holcomb, Alessandro Settimi, Francois Becmeur, David van der Zee
AIM: This study aimed to report the results of a multicentric survey about laparoscopic treatment of pancreatic tumors in children. MATERIALS AND METHODS: The data of patients operated using minimally invasive surgery (MIS) for a pancreatic tumor in 5 International centers of Pediatric Surgery in the last 5 years were retrospectively reviewed. We recorded data relating to the clinical presentation, diagnostic evaluation, surgical technique, and outcome. RESULTS: Fifteen patients (average age 2...
February 22, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/28222404/glycemic-control-in-patients-with-insulinoma
#7
REVIEW
Agata Matej, Hanna Bujwid, Jakub Wroński
Insulinoma is the most common neuroendocrine tumor of the pancreas. Surgical management of insulinomas is considered to be the only curative method. However, effective glycemic control preoperatively and in unresectable insulinomas remains a significant issue. Hyperinsulinism, occurring as a result of the hormone-secreting tumor, leads to life-threatening hypoglycemia episodes which require urgent medical treatment. This article discusses current management of hypoglycemia in insulinoma patients, including: education and lifestyle modifications, pharmacotherapy (diazoxide, somatostatin analogs, mTOR inhibitor - everolimus), cytoreductive methods and continuous glucose monitoring systems...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28194805/fetal-adaptations-in-insulin-secretion-result-from-high-catecholamines-during-placental-insufficiency
#8
Sean W Limesand, Paul J Rozance
Placental insufficiency and intrauterine growth restriction (IUGR) of the fetus affects approximately 8% of all pregnancies and is associated with short- and long-term disturbances in metabolism. In pregnant sheep, experimental models with a small, defective placenta that restricts delivery of nutrients and oxygen to the fetus result in IUGR. Low blood oxygen concentrations increase fetal plasma catecholamine concentrations, which lower fetal insulin concentrations. All of these observations in sheep models with placental insufficiency are consistent with cases of human IUGR...
February 14, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28165182/a-severe-case-of-hyperinsulinism-due-to-hemizygous-activating-mutation-of-glutamate-dehydrogenase
#9
Mary Barrosse-Antle, Chang Su, Pan Chen, Kara E Boodhansingh, Thomas J Smith, Charles A Stanley, Diva D De León, Changhong Li
Activating mutations in the GLUD1 gene, which encodes glutamate dehydrogenase (GDH), result in the hyperinsulinism-hyperammonemia syndrome. GDH is an allosterically regulated enzyme responsible for amino acid-mediated insulin secretion via the oxidative deamination of glutamate to 2-oxoglutarate, leading to ATP production and insulin release. This study characterizes a novel combination of mutations in GLUD1 found in a neonate who presented on the first day of life with severe hypoglycemia, hyperammonemia, and seizures...
February 6, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28164885/a-study-of-the-association-of-acanthosis-nigricans-with-subclinical-atherosclerosis
#10
Elizabeth Guevara-Gutiérrez, Alberto Tlacuilo-Parra, Pedro Gutiérrez-Fajardo, Tania Sánchez-Tenorio, Fernando Barba-Gómez, Alejandra Miranda-Díaz
BACKGROUND: Hyperinsulinism is related to the presence of acanthosis nigricans and atherosclerosis; however, we were unable to find any study on the prevalence of atherosclerosis in acanthosis nigricans. AIMS: To evaluate the prevalence of carotid atherosclerosis and metabolic alterations in Mexican patients with acanthosis nigricans. METHODS: We carried out a cross-sectional study that included 45 patients with acanthosis nigricans, age- and gender-matched with 45 healthy participants...
March 2017: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/28164075/the-impact-of-obesity-on-hyperandrogenemia-in-korean-girls
#11
Min Jae Kang, Seung Yang, Il Tae Hwang
PURPOSE: As metabolic complication and polycystic ovarian syndrome due to childhood obesity is rising, the role of hyperandrogenemia (HA) and hyperinsulinism is receiving attention. The aims of this study were to investigate the presence of obvious HA according to pubertal status and to find potential etiologic determinants of HA in Korean obese (OB) girls. METHODS: We analyzed 91 girls aged 6-17 years (prepuberty, n=54; puberty, n=37). Each girl was classified as being either normal weight (NW) or OB...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28163940/asymptomatic-congenital-hyperinsulinism-due-to-a-glucokinase-activating-mutation-treated-as-adrenal-insufficiency-for-twelve-years
#12
Kae Morishita, Chika Kyo, Takako Yonemoto, Rieko Kosugi, Tatsuo Ogawa, Tatsuhide Inoue
Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was diagnosed with CHI. Heterozygosity of exon 6 c.590T>C (p.M197T) was identified in a gene analysis of GCK, which was also detected in her son and herself...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28123437/a-case-series-congenital-hyperinsulinism
#13
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
https://www.readbyqxmd.com/read/28026098/risk-factors-for-preeclampsia-in-infertile-chinese-women-with-polycystic-ovary-syndrome-a-prospective-cohort-study
#14
Hexia Xia, Ruixiu Zhang, Xiaoli Sun, Lu Wang, Wei Zhang
To explore preconception risk factors for preeclampsia (PE) in women with polycystic ovary syndrome (PCOS), a prospective cohort study was conducted in 92 infertile Chinese women with PCOS who had a singleton pregnancy by ovulation induction and were followed up for 6 weeks after delivery. The patients underwent assessment of physical, endocrine, and metabolic features before ovulation induction. Fifteen (16.3%) patients were diagnosed with PE. Logistic regression analysis showed that preconception sex hormone-binding globulin (SHBG), insulin level at 120 minutes, and body mass index were three independent risk factors for PE (odds ratio [OR], 0...
December 27, 2016: Journal of Clinical Hypertension
https://www.readbyqxmd.com/read/28025655/targets-and-probes-for-non-invasive-imaging-of-%C3%AE-cells
#15
REVIEW
Andreas Jodal, Roger Schibli, Martin Béhé
β-cells, located in the islets of the pancreas, are responsible for production and secretion of insulin and play a crucial role in blood sugar regulation. Pathologic β-cells often cause serious medical conditions affecting blood glucose level, which severely impact life quality and are life-threatening if untreated. With 347 million patients, diabetes is one of the most prevalent diseases, and will continue to be one of the largest socioeconomic challenges in the future. The diagnosis still relies mainly on indirect methods like blood sugar measurements...
April 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28018462/a-novel-mutation-of-abcc8-gene-in-a-patient-with-diazoxide-unresponsive-congenital-hyperinsulinism
#16
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park
Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of the ABCC8 or KCNJ11 genes, which encode the sulfonylurea receptor 1 and the inward rectifying potassium channel (Kir6.2) subunit of the ATP-sensitive potassium channel, respectively...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27971713/burden-of-congenital-hyperinsulinism-in-the-united-kingdom-a-cost-of-illness-study
#17
S Eljamel, J S Evans, A Griffiths, I Banerjee, K Hussain, R S Thompson
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27967291/novel-hypoglycemia-phenotype-in-congenital-hyperinsulinism-due-to-dominant-mutations-of-uncoupling-protein-2-ucp2
#18
Christine T Ferrara, Kara E Boodhansingh, Elenora Paradies, Fiermonte Giuseppe, Linda J Steinkrauss, Lisa Swartz Topor, Jose Bernardo Quintos, Arupa Ganguly, Diva D De Leon, Ferdinando Palmieri, Charles A Stanley
CONTEXT: 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 the oxidation of glucose vs amino acids. OBJECTIVE: To evaluate the frequency of UCP2 mutations in children with HI and phenotypic features of this form of HI. DESIGN: We examined 211 children with diazoxide-responsive HI seen at The Children's Hospital of Philadelphia (CHOP) between 1997 and October 2016...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27934605/generation-of-an-abcc8-heterozygous-mutation-human-embryonic-stem-cell-line-using-crispr-cas9
#19
Dongsheng Guo, Haikun Liu, Ge Gao, Aynisahan Ruzi, Kepin Wang, Han Wu, Keyu Lai, Yanli Liu, Fan Yang, Liangxue Lai, Yin-Xiong Li
The gene of ATP-binding cassette subfamily C member 8 (Abcc8) is cytogenetically located at 11p15.1 and encodes the sulfonylurea receptor (SUR1). SUR1 is a subunit of ATP-sensitive potassium channel (KAPT) in the β-cell regulating insulin secretion. Mutations of ABCC8 are responsible for congenital hyperinsulinism (CHI). Here we reported that an Abcc8 heterozygous mutant cell line was generated by CRISPR/Cas9 technique with 1bp insertion resulting in abnormal splicing on human embryonic stem cell line H1. The phenotypic characteristics of this cell line reveal defective KATP channel and diazoxide-responsive that provides ideal model for molecular pathology research and drug screening for CHI...
November 5, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27934599/generation-of-an-abcc8-homozygous-mutation-human-embryonic-stem-cell-line-using-crispr-cas9
#20
Dongsheng Guo, Haikun Liu, Ge Gao, Aynisahan Ruzi, Kepin Wang, Han Wu, Keyu Lai, Yanli Liu, Fan Yang, Liangxue Lai, Yin-Xiong Li
The gene of ATP-binding cassette subfamily C member 8 (Abcc8) is cytogenetically located at 11p15.1 and encodes the sulfonylurea receptor (SUR1). SUR1 is a subunit of ATP-sensitive potassium channel (KAPT) in the β-cell regulating insulin secretion. Mutations of ABCC8 are responsible for congenital hyperinsulinism (CHI). Here we generated an Abcc8 homozygous mutant cell line by CRISPR/Cas9 technique with 22bp deletion resulting in abnormal splicing on human embryonic stem cell line H1. The phenotypic characteristics of this cell line reveal defective KATP channel and diazoxide-unresponsive that provides an ideal model for molecular pathology research and drug screening for CHI...
November 9, 2016: Stem Cell Research
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