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hypoglycemia igf2

Barry J Byrne, Tarekegn Geberhiwot, Bruce A Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system...
August 24, 2017: Orphanet Journal of Rare Diseases
Zdeněk Fryšák, David Karásek
UNLABELLED: Decrease of blood glucose levels below 3 mmol/l is in fully developed cases accompanied by neuroglycopenic symptoms that may even lead to altered state of consciousness. The treating physician frequently faces a complicated situation. This may be due to inappropriately administered drugs including cases motivated by self-harm intentions (insulin, insulin secretagogues), or alcohol abuse. Undernourished people, or those afflicted with a serious systemic infection, end-stage liver or kidney diseases or with a failing heart, belong to a risk group...
December 0: Vnitr̆ní Lékar̆ství
Andreia Latanza Gomes Mathez, Debora Moroto, Sergio Atala Dib, Joao Roberto de Sa
A rare sign of some malignant tumors is a sudden eruption of multiple seborrheic keratoses called Leser-Trélat sign. Overproduction of insulin-like growth factor-2 (IGF2) or its precursor is the main mechanism related to non-islet cell tumor hypoglycemia. Doege-Potter syndrome is the name given to paraneoplastic hypoinsulinemic hypoglycemia in presence of a solitary fibrous tumor. This report describes a case of a patient with hypoinsulinemic hypoglycemia and Leser-Trélat sign associated with a malignant solitary fibrous tumor with IGF2 secretion...
2016: Diabetology & Metabolic Syndrome
G K Dimitriadis, K Gopalakrishnan, R Rao, D K Grammatopoulos, H S Randeva, M O Weickert, N Murthy
UNLABELLED: We report the case of a 70-year-old previously healthy female who presented acutely to the Accident and Emergency department with left-sided vasomotor symptoms including reduced muscle tone, weakness upon walking and slurred speech. Physical examination confirmed hemiparesis with VIIth nerve palsy and profound hepatomegaly. A random glucose was low at 1.7 mmol/l, which upon correction resolved her symptoms. In hindsight, the patient recalled having had similar episodes periodically over the past 3 months to which she did not give much attention...
2015: Endocrinology, Diabetes & Metabolism Case Reports
Helen Fryssira, Stella Amenta, Deniz Kanber, Christalena Sofocleous, Evangelia Lykopoulou, Christina Kanaka-Gantenbein, Flavia Cerrato, Hermann-Josef Lüdecke, Susanne Bens, Andrea Riccio, Karin Buiting
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder with a variable clinical phenotype caused by deregulation affecting imprinted genes in the chromosomal region 11p15. Alterations of the imprinting control region 1 (ICR1) at the IGF2/H19 locus resulting in biallelic expression of IGF2 and biallelic silencing of H19 account for approximately 10% of patients with BWS. The majority of these patients have epimutations of the ICR1 without detectable DNA sequence changes...
May 6, 2015: BMC Medical Genetics
Kamel Mohammedi, Charbel Abi Khalil, Sophie Olivier, Imane Benabad, Ronan Roussel, Michel Marre
UNLABELLED: Hypoglycemia is a common medical emergency. It is the most frequent complication induced by anti-diabetic treatment. However, it can be observed in other conditions unrelated to diabetes such as insulinoma, autoimmune disorders, and neoplasia. Herein, we report the case of a rare cause of severe and recurrent hypoglycemia in a 77-year-old woman with a malignant solitary fibrous tumor (MSFT). A 77-year-old woman was admitted to the emergency department for loss of consciousness induced by severe hypoglycemia...
2014: Endocrinology, Diabetes & Metabolism Case Reports
Pinaki Dutta, Anuradha Aggarwal, Yashpal Gogate, Uma Nahar, Viral N Shah, Mandeep Singla, N Khandelwal, Anil Bhansali
UNLABELLED: We describe the clinical presentation, diagnostic and management issues in five cases of non-islet cell tumor hypoglycemia (NICTH), diagnosed at a tertiary care institute over a period of 15 years. The clinical, laboratory, and histopathological findings of these patients along with diagnostic utility of IGF2:IGF1 ratio are discussed. The mean age of presentation was 52 years, with a male predominance (3:2). Three patients presented with recurrent episodes of fasting hypoglycemia and it was detected in other two patients during hospitalization...
2013: Endocrinology, Diabetes & Metabolism Case Reports
Pedro Iglesias, Juan J Díez
Tumor-induced hypoglycemia (TIH) is a rare clinical entity that may occur in patients with diverse kinds of tumor lineages and that may be caused by different mechanisms. These pathogenic mechanisms include the eutopic insulin secretion by a pancreatic islet β-cell tumor, and also the ectopic tumor insulin secretion by non-islet-cell tumor, such as bronchial carcinoids and gastrointestinal stromal tumors. Insulinoma is, by far, the most common tumor associated with clinical and biochemical hypoglycemia. Insulinomas are usually single, small, sporadic, and intrapancreatic benign tumors...
April 2014: European Journal of Endocrinology
Jens U Marquardt, Kerstin Fischer, Katharina Baus, Anubha Kashyap, Shengyun Ma, Markus Krupp, Matthias Linke, Andreas Teufel, Ulrich Zechner, Dennis Strand, Snorri S Thorgeirsson, Peter R Galle, Susanne Strand
UNLABELLED: Sirtuin 6 (SIRT6) is a member of the sirtuin family of NAD+-dependent deacetylases. Genetic deletion of Sirt6 in mice results in a severe degenerative phenotype with impaired liver function and premature death. The role of SIRT6 in development and progression of hepatocellular carcinoma is currently unknown. We first investigated SIRT6 expression in 153 primary human liver cancers and in normal and cirrhotic livers using microarray analysis. SIRT6 was significantly down-regulated in both cirrhotic livers and cancer...
September 2013: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Katherine Marie Robbins, Zhiyuan Chen, Kevin Dale Wells, Rocío Melissa Rivera
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a loss-of-imprinting pediatric overgrowth syndrome. The primary features of BWS include macrosomia, macroglossia, and abdominal wall defects. Secondary features that are frequently observed in BWS patients are hypoglycemia, nevus flammeus, polyhydramnios, visceromegaly, hemihyperplasia, cardiac malformations, and difficulty breathing. BWS is speculated to occur primarily as the result of the misregulation of imprinted genes associated with two clusters on chromosome 11p15...
2012: Journal of Biomedical Science
T I M Korevaar, F Ragazzoni, A Weaver, N Karavitaki, A B Grossman
No abstract text is available yet for this article.
April 2014: QJM: Monthly Journal of the Association of Physicians
E C Fung, M A Crook
No abstract text is available yet for this article.
March 2011: Annals of Clinical Biochemistry
Sonja E Steigen, David F Schaeffer, Robert B West, Torsten O Nielsen
The insulin-like growth factor (IGF) system plays an important role in the growth and development of cells and has been implicated in oncogenesis and tumor progression. Gene expression profiling studies on limited numbers of specimens have shown high expression of IGF2, encoding the activating ligand for this system, in gastrointestinal stromal tumors (GISTs) and in synovial sarcomas. This data may have concrete clinical implications, as several reports exist of patients with GISTs suffering from severe hypoglycemia, a predicted effect of IGF2...
July 2009: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Elizabeth A Lawson, Xun Zhang, Jonathan T Crocker, Wei-Lien Wang, Anne Klibanski
CONTEXT: The mechanism of IGF2 overexpression in non-islet-cell tumor hypoglycemia is not understood. OBJECTIVE: We investigated the imprinting control and promoter usage for IGF2 expression to identify a mechanism for increased IGF-II production in non-islet-cell tumor hypoglycemia. PATIENT AND METHODS: A patient with metastatic hemangiopericytoma was studied. Tissue from the original hemangiopericytoma, metastatic tumor, and uninvolved liver was analyzed for IGF-II immunohistochemistry...
July 2009: Journal of Clinical Endocrinology and Metabolism
Kandelaria M Rumilla, Lori A Erickson, F John Service, Adrian Vella, Geoffrey B Thompson, Clive S Grant, Ricardo V Lloyd
Hypoglycemia secondary to nesidioblastosis is rare in adults, and the pathogenesis of this condition is unknown. To determine factors leading to nesidioblastosis in adults, we analyzed 36 cases of nesidioblastosis including 27 cases of postgastric bypass nesidioblastosis and 9 cases of idiopathic nesidioblastosis in adults by immunohistochemistry using antibodies to insulin-like growth factor 1, insulin-like growth factor 2 (IGF2), insulin-like growth factor one receptor-alpha epidermal growth factor receptor, transforming growth factor-beta1 and 2, and transforming growth factor-beta receptor type 3...
February 2009: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Gabriel Chan, Peter J Horton, Sandra Thyssen, Marie Lamarche, Ayoub Nahal, David J Hill, Errol B Marliss, Peter Metrakos
Sarcomas of the liver are rare. We report a case of intractable hypoglycemia secondary to a solitary fibrous tumor that underwent malignant transformation into a fibrosarcoma. A 70-year-old man presented with a hepatic mass and tumor-associated hypoglycemia which was resistant to medical management. Blood tests were remarkable only for elevated serum insulin-like growth factor (IGF)-2. The hypoglycemia resolved following resection of a solitary fibrous tumor surrounded by a high-grade fibrosarcoma. Real time reverse transcriptase polymerase chain reaction (RT-PCR) measured elevated levels of IGF2 mRNA in both the solitary fibrous tumor and the fibrosarcoma...
2007: Journal of Hepato-biliary-pancreatic Surgery
Frédéric Lirussi, Laurence Jonard, Véronique Gaston, Damien Sanlaville, R Frank Kooy, Birgitta Winnepenninckx, Eamonn R Maher, David R Fitzpatrick, Christine Gicquel, Marie-France Portnoï, Rémy Couderc, Marie-Paule Vazquez, Michel Bahuau
Beckwith-Wiedemann syndrome (BWS) is an overgrowth condition with tumor proclivity linked to a genetic imbalance of a complex imprinted region in 11p15.5. A female child with features fitting in with the BWS diagnostic framework and an apparent loss of imprinting (LOI) of the IGF2 gene in 11p15.5 was also reported to have a de novo chromosome 18q segmental deletion (Patient 1), thus pointing at the location of a possible trans-activating regulator element for maintenance of IGF2 imprinting and providing one of the few examples of locus heterogeneity of BWS...
December 1, 2007: American Journal of Medical Genetics. Part A
M Michael Cohen
Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele, umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann syndrome. Complications include neonatal hypoglycemia and an increased risk for Wilms tumor, adrenal cortical carcinoma, hepatoblastoma, rhabdomyosarcoma, and neuroblastoma, among others. Perinatal mortality can result from complications of prematurity, pronounced macroglossia, and rarely cardiomyopathy. The molecular basis of Beckwith-Wiedemann syndrome is complex, involving deregulation of imprinted genes found in 2 domains within the 11p15 region: telomeric Domain 1 (IGF2 and H19) and centromeric Domain 2 (KCNQ1, KCNQ1OT1, and CDKN1C)...
May 2005: Pediatric and Developmental Pathology
K Hussain, O A F Bodamer, F J Cameron, C Camacho-Hubner, M A Soos, J Jones, S Krywawych, S O'Rahilly, A Aynsley-Green
BACKGROUND: Recurrent and persistent hypoketotic, hypofattyacidaemic hypoglycaemia in infancy and childhood is most frequently due to hyperinsulinism of infancy. This biochemical profile can also be due to non-islet cell tumour hypoglycaemia or circulating insulin-receptor autoantibodies. Hyperinsulinaemic hypoglycaemia is also seen in children with the Beckwith-Wiedemann syndrome, where it is usually transient. METHODS/RESULTS: We report a novel case of child with hemihypertrophy and severe persistent hypoketotic, hypofattyacidaemic hypoinsulinaemic hypoglycaemia...
2004: Hormone Research
Christine Sempoux, Yves Guiot, Karin Dahan, Pierre Moulin, Martine Stevens, Virginie Lambot, Pascale de Lonlay, Jean-Christophe Fournet, Claudine Junien, Francis Jaubert, Claire Nihoul-Fekete, Jean-Marie Saudubray, Jacques Rahier
Paternal mutation of ATP-sensitive K(+) (K(ATP)) channel genes and loss of heterozygosity (LOH) of the 11p15 region including the maternal alleles of ABCC8, IGF2, and CDKN1C characterize the focal form of persistent hyperinsulinemic hypoglycemia of infancy (FoPHHI). We aimed to understand the actual nature of FoPHHI in comparison with insulinoma. In FoPHHI, the lesion consists in clusters of beta-cells surrounded by non-beta-cells. Compared with adjacent islets, proinsulin mRNA is similar and proinsulin production higher (P < or = 0...
March 2003: Diabetes
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