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https://www.readbyqxmd.com/read/29034901/generation-of-a-kcnj11-homozygous-knockout-human-embryonic-stem-cell-line-wae001-a-12-using-crispr-cas9
#1
Fang Yuan, Dongsheng Guo, Ge Gao, Yanli Liu, Yingying Xu, Yuhang Wu, Fan Yang, Xinrong Ke, Keyu Lai, Liangqing Hong, Yin-Xiong Li
The ATP-sensitive potassium channel is an octameric complex, and one of its subunits, namely Kir6.2, is encoded by the KCNJ11 gene. Mutations in KCNJ11 result in hyperinsulinism or diabetes mellitus, associated with abnormal insulin secretion. Here, using CRISPR/Cas9 editing, we established a homozygous mutant KCNJ11 cell line, WAe001-A-12, which was generated by a 62-bp deletion in the coding sequence of the human embryonic stem cell line H1. It was confirmed that this deletion in the KCNJ11 gene did not affect the protein expression levels of key pluripotent factors...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29025242/the-diagnosis-and-management-of-congenital-and-adult-onset-hyperinsulinism-nesidioblastosis-literature-review
#2
Adam M Kowalewski, Łukasz Szylberg, Anna Kasperska, Andrzej Marszałek
Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological examination is necessary for a definitive diagnosis. CHI is a disorder with three histopathological variants: focal CHI, diffuse CHI, and atypical CHI. These variants are clinically indistinguishable. According to published statistics, 0.5 to 5% of nesidioblastosis cases occur in adults...
2017: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
https://www.readbyqxmd.com/read/28985184/sirolimus-precipitating-diabetes-mellitus-in-a-patient-with-congenital-hyperinsulinaemic-hypoglycaemia-due-to-autosomal-dominant-abcc8-mutation
#3
Antonia Dastamani, Maria Güemes, Joanna Walker, Pratik Shah, Khalid Hussain
BACKGROUND: Sirolimus (mTOR inhibitor) is proven to be effective in children with congenital hyperinsulinism (CHI). Studies in animals suggest that sirolimus may have diabetogenic actions. However, its role in precipitating diabetes mellitus (DM) in children with CHI has not been reported. CASE PRESENTATION: A 16-year-old female with CHI due to a dominant ABCC8 gene mutation was switched from diazoxide therapy to sirolimus, due to the hypertrichosis side effect of diazoxide...
October 6, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28984754/late-presentation-of-necrotizing-enterocolitis-associated-with-rotavirus-infection-in-a-term-infant-with-hyperinsulinism-on-octreotide-therapy-a-case-report
#4
Abdulaziz A Alsaedi, Ayman A Bakkar, Naglaa M Kamal, Jwaher M Althobiti
RATIONALE: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy that can cause permanent brain damage. Consequently, optimal management is extremely important. Current pharmacologic and surgical treatment were available that included diazoxide and octreotides. PATIENT CONCERNS: A 4 month old Saudi male patient diagnosed at our hospital as CHI, treated with near total pancreatectomy and octreotide therapy of 30 mcg/kg/day presented with severe abdominal distension, vomiting and bloody diarrhea...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28973288/novel-foxa2-mutation-causes-hyperinsulinism-hypopitutarism-with-craniofacial-and-endoderm-derived-organ-abnormalities
#5
Dinesh Giri, Maria Lillina Vignola, Angelica Gualtieri, Valeria Scagliotti, Paul McNamara, Matthew Peak, Mohammed Didi, Carles Gaston-Massuet, Senthil Senniappan
Congenital hypopituitarism(CH) is characterised by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism(CHI) is a disorder of unregulated insulin secretion despite hypoglycemia that can occur in isolation or as part of a wider syndrome. Molecular diagnosis is unknown in many cases of CH and CHI. The underlying genetic etiology causing the complex phenotype of CH and CHI is unknown. In this study, we identified a de novo heterozygous mutation in the developmental transcription factor, forkhead box A2, FOXA2 (c...
August 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28966058/-congenital-hyperinsulinism-revealed-by-sudden-infant-death
#6
Anne Guyot, Fanny Moreau, Maxime Eberhard, Jean-Michel Gaulier, François Paraf
We report the case of a girl of 5 and a half months admitted for discomfort and consciousness loss at home and supported on sudden infant death protocol. Workup was negative. Autopsy showed only signs of asphyxia. Microscopic examination of the pancreas showed hypertrophic beta cells of Langerhans islets, explaining death linked to severe hypoglycemia by inappropriate insulin hypersecretion. This observation highlights the importance of the management of sudden infant unexpected death according to the protocol of the National Health Authority, which includes an autopsy with complete sampling, which in this case resulted in a diagnosis of unknown disease the lifetime of the child...
September 28, 2017: Annales de Pathologie
https://www.readbyqxmd.com/read/28946816/effect-of-tnf-%C3%AE-on-molecules-related-to-the-insulin-action-in-endometrial-cells-exposed-to-hyperandrogenic-and-hyperinsulinic-conditions-characteristics-of-polycystic-ovary-syndrome
#7
Lorena Oróstica, Paula García, Carolina Vera, Víctor García, Carmen Romero, Margarita Vega
Polycystic ovary syndrome (PCOS) affects not only ovarian functions but is also able to affect endometrium metabolism. Around 80% of women with PCOS are obese. High tumor necrosis factor (TNF)-α production and low adiponectin levels are characteristics of obesity. Interestingly, endometrium from obese women with PCOS presents an insulin-resistance condition, high TNF-α levels, and low adiponectin levels. However, TNF-α effect on molecules associated with insulin action in endometrial cells remains unclear...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28911206/identification-of-the-molecular-dysfunction-caused-by-glutamate-dehydrogenase-s445l-mutation-responsible-for-hyperinsulinism-hyperammonemia
#8
Mariagrazia Grimaldi, Melis Karaca, Livia Latini, Estelle Brioudes, Thomas Schalch, Pierre Maechler
Congenital hyperinsulinism/hyperammonemia (HI/HA) syndrome gives rise to unregulated protein-induced insulin secretion from pancreatic beta-cells, fasting hypoglycemia and elevated plasma ammonia levels. Mutations associated with HI/HA were identified in the Glud1 gene, encoding for glutamate dehydrogenase (GDH). We aimed at identifying the molecular causes of dysregulation in insulin secretion and ammonia production conferred by the most frequent HI/HA mutation Ser445Leu. Following transduction with adenoviruses carrying the human GDH-wild type or GDH-S445L-mutant gene, immunoblotting showed efficient expression of the transgenes in all the investigated cell types...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28804205/clinical-practice-guidelines-for-congenital-hyperinsulinism
#9
Tohru Yorifuji, Reiko Horikawa, Tomonobu Hasegawa, Masanori Adachi, Shun Soneda, Masanori Minagawa, Shinobu Ida, Takeo Yonekura, Yoshiaki Kinoshita, Yutaka Kanamori, Hiroaki Kitagawa, Masato Shinkai, Hideyuki Sasaki, Masaki Nio
Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most recent progress, to guide the practice of neonatologists, pediatric endocrinologists, general pediatricians, and pediatric surgeons. These guidelines cover a range of aspects, including general features of congenital hyperinsulinism, diagnostic criteria and tools for diagnosis, first- and second-line medical treatment, criteria for and details of surgical treatment, and future perspectives...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28798227/-68-ga-dotatate-pet-ct-can-be-an-alternative-imaging-method-in-insulinoma-patients
#10
Sadiye Altun Tuzcu, Zafer Pekkolay, Faruk Kılınç, Alpaslan Kemal Tuzcu
Insulinomas are the most common cause of hypoglycemia, resulting from endogenous hyperinsulinism. The diagnosis of insulinoma is established by demonstrating inappropriately high serum insulin concentrations during a spontaneous or induced episode of hypoglycemia. Most insulinomas are islet-cell tumors. They are often small (<2 cm), benign, and difficult to localize with current imaging techniques. Insulinomas can be detected using either noninvasive procedures (e.g., transabdominal ultrasonography, spiral CT, MRI, (111)In-pentetreotide imaging, and (18)F-l-dihydroxyphenylalanine PET) or invasive procedures (e...
September 2017: Journal of Nuclear Medicine Technology
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
#11
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/28755194/hereditary-tyrosinemia-type-1-in-turkey
#12
Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M Serif Cansever
Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28752386/glycolate-oxidase-deficiency-in-a-patient-with-congenital-hyperinsulinism-and-unexplained-hyperoxaluria
#13
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
#14
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/28737197/-congenital-hyperinsulinism-of-the-newborn-a-case-report
#15
Josefina Sáez, Juan Carlos Pattillo, Pilar Orellana, Claudia Godoy
Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn and it is characterized by an inappropriately elevated insulin level in presence of hypoglycemia. Initial management is medical treatment, but if it fails, partial pancreatectomy is the surgical procedure of choice. OBJECTIVE: To report a case of a newborn with CH to aware on this condition and update its multidisciplinary management. CASE REPORT: The case of a full term newborn with severe symptomatic hypoglycemia unresponsive to medical treatment is reported ...
June 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28729184/-clinical-and-genetic-heterogeneity-of-congenital-hyperinsulinism
#16
Juncal Reguera Bernardino, Ignacio Oulego Erroz, Jorge Martínez Sáenz de Jubera, Rocío Quiroga González, Laura Regueras Santos
No abstract text is available yet for this article.
July 17, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28701683/efficacy-and-safety-of-octreotide-for-the-treatment-of-congenital-hyperinsulinism-a-prospective-open-label-clinical-trial-and-an-observational-study-in-japan-using-a-nationwide-registry
#17
Yuki Hosokawa, Rie Kawakita, Susumu Yokoya, Tsutomu Ogata, Keiichi Ozono, Osamu Arisaka, Yukihiro Hasegawa, Satoshi Kusuda, Michiya Masue, Hironori Nishibori, Toshimi Sairenchi, Tohru Yorifuji
Octreotide, a long-acting somatostatin analog, has been used for treating hypoglycemia caused by congenital hyperinsulinism (CHI). However, octreotide has not been evaluated in clinical trials and has not been approved in any developed country. We aimed to test the efficacy and safety of octreotide for diazoxide-unresponsive CHI through a combination of a single-arm, open-label clinical trial (SCORCH study) and an observational study to collect data on the clinical course of patients treated off-label in Japan (SCORCH registry)...
September 30, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28663158/an-abcc8-nonsense-mutation-causing-neonatal-diabetes-through-altered-transcript-expression
#18
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/28650702/a-case-report-of-methadone-associated-hypoglycemia-in-an-11-month-old-male
#19
Michael S Toce, Margaret A Stefater, David T Breault, Michele M Burns
BACKGROUND: Methadone is a synthetic μ-opioid receptor agonist that is used in the management of pain, neonatal abstinence withdrawal syndrome, and opioid dependence. Overdose can cause miosis, respiratory depression, and central nervous system depression. Rarely, hypoglycemia has been reported. We present the case of an 11-month-old male who developed hypoketotic, hyperinsulinemic, hypoglycemia after an acute, unintentional methadone exposure. CASE DETAILS: The patient was a previously healthy 11-month-old male who presented in respiratory failure...
June 26, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28642988/development-of-pulmonary-hypertension-during-treatment-with-diazoxide-a-case-series-and-literature-review
#20
REVIEW
Matthew R Timlin, Alexander B Black, Heather M Delaney, Renée I Matos, Candace S Percival
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. The mainstay of medical management for CHI is diazoxide. Diazoxide inhibits insulin release from the pancreas, but also causes smooth muscle relaxation and fluid retention so it is typically given with chlorothiazide. In July 2015, the FDA issued a drug safety communication warning that pulmonary hypertension (PH) had been reported in 11 infants being treated with diazoxide and that the PH resolved with withdrawal of diazoxide...
August 2017: Pediatric Cardiology
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