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Mauriac syndrome

Stephanie A Mauriac, Yeri E Hien, Jonathan E Bird, Steve Dos-Santos Carvalho, Ronan Peyroutou, Sze Chim Lee, Maite M Moreau, Jean-Michel Blanc, Aysegul Gezer, Chantal Medina, Olivier Thoumine, Sandra Beer-Hammer, Thomas B Friedman, Lukas Rüttiger, Andrew Forge, Bernd Nürnberg, Nathalie Sans, Mireille Montcouquiol
This corrects the article DOI: 10.1038/ncomms14907.
May 25, 2018: Nature Communications
Stephanie A Mauriac, Yeri E Hien, Jonathan E Bird, Steve Dos-Santos Carvalho, Ronan Peyroutou, Sze Chim Lee, Maite M Moreau, Jean-Michel Blanc, Aysegul Geyser, Chantal Medina, Olivier Thoumine, Sandra Beer-Hammer, Thomas B Friedman, Lukas Rüttiger, Andrew Forge, Bernd Nürnberg, Nathalie Sans, Mireille Montcouquiol
Mutations in GPSM2 cause Chudley-McCullough syndrome (CMCS), an autosomal recessive neurological disorder characterized by early-onset sensorineural deafness and brain anomalies. Here, we show that mutation of the mouse orthologue of GPSM2 affects actin-rich stereocilia elongation in auditory and vestibular hair cells, causing deafness and balance defects. The G-protein subunit Gαi3, a well-documented partner of Gpsm2, participates in the elongation process, and its absence also causes hearing deficits. We show that Gpsm2 defines an ∼200 nm nanodomain at the tips of stereocilia and this localization requires the presence of Gαi3, myosin 15 and whirlin...
April 7, 2017: Nature Communications
Deborah M Mitchell
PURPOSE OF REVIEW: As the incidence of type 1 diabetes (T1DM) continues to rise, complications including impairment of childhood growth remain a major concern. This review provides an overview of alterations in growth patterns before and after the onset of T1DM. RECENT FINDINGS: Recent advances in this field include several prospective investigations of height and weight trajectories in children leading up to the development of islet autoimmunity and T1DM as well as evaluations of larger cohorts of T1DM patients to better assess predictors of altered growth...
February 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
Zeinab A Elkabbany, Nancy S Elbarbary, Eman A Ismail, Nesrine A Mohamed, Dina Ragab, Shereen Abdel Alem, Yasmine M Ezzat, Sarah S Maurice, Noha U Hashem
AIM: To identify the prevalence and effect of hepatopathies of different etiologies among pediatric patients with type 1 diabetes mellitus (T1DM) using transient elastography (TE) and its relation to glycemic control. METHODS: One hundred T1DM patients were studied focusing on liver functions, fasting lipid profile, hemoglobin A1c (HbA1c), hepatitis C virus (HCV), serum immunoglobulins, autoimmune antibodies; anti-nuclear antibody (ANA), anti-smooth muscle antibody (ASMA), and anti-liver kidney microsomal antibody (anti-LKM)...
January 2017: Journal of Diabetes and its Complications
Kirsten S Deemer, George F Alvarez
Mauriac syndrome is a rare disorder that can present with the single feature of glycogenic hepatopathy in children and adults with poorly controlled diabetes mellitus. An often underrecognized finding of glycogenic hepatopathy is lactic acidosis and hyperlactatemia. Primary treatment of glycogenic hepatopathy is improved long-term blood glucose control. Resolution of symptoms and hepatomegaly will occur with improvement in hemoglobin A1C. We present here a case of a young adult female presenting to the intensive care unit with Mauriac syndrome...
2016: Case Reports in Critical Care
Rapeepun Chai-Udom, Taninee Sahakitrungruang, Suttipong Wacharasindhu, Vichit Supornsilchai
Mauriac syndrome is characterized by growth impairment, Cushingoid features, and hepatomegaly in patients with poorly controlled type 1 diabetes mellitus (T1DM). We report a novel presentation of Mauriac syndrome in a 9-year-old girl who was diagnosed with neonatal diabetes at 3 months of age due to the p.R201C mutation in KCNJ11. She was initially treated successfully with glipizide at a dose of 0.85 mg/kg/day but after being lost to follow-up and having improper adjustment in dose over many years, the recent dose of 0...
September 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Michael J MacDonald, Noaman M Hasan, Israr-Ul H Ansari, Melissa J Longacre, Mindy A Kendrick, Scott W Stoker
A mechanistic cause for Mauriac syndrome, a syndrome of growth failure and delayed puberty associated with massive liver enlargement from glycogen deposition in children with poorly controlled type 1 diabetes, is unknown. We discovered a mutation in the catalytic subunit of liver glycogen phosphorylase kinase in a patient with Mauriac syndrome whose liver extended into his pelvis. Glycogen phosphorylase kinase activates glycogen phosphorylase, the enzyme that catalyzes the first step in glycogen breakdown. We show that the mutant subunit acts in a dominant manner to completely inhibit glycogen phosphorylase kinase enzyme activity and that this interferes with glycogenolysis causing increased levels of glycogen in human liver cells...
July 2016: Diabetes
Halley Wasserman, Robert B Hufnagel, Virginia Miraldi Utz, Kejian Zhang, C Alexander Valencia, Nancy D Leslie, Nancy A Crimmins
The prevalence of diabetes-related cataracts during childhood is less than 1%. When cataracts occur, it is often in adolescent females with prolonged symptoms and significant hyperglycemia. Cataracts are not a classic feature of monogenic diabetes. We report a case of a 6-yr-old, previously healthy Caucasian male, who presented with bilateral acquired cataracts and was subsequently diagnosed with new onset diabetes. Additional symptoms at presentation included a several year history of polyuria and polydipsia, mild hepatomegaly, and short stature...
November 2016: Pediatric Diabetes
In Ah Jung, Won Kyoung Cho, Yeon Jin Jeon, Shin Hee Kim, Kyoung Soon Cho, So Hyun Park, Min Ho Jung, Byung-Kyu Suh
Hepatic glycogenosis in type 1 diabetes mellitus (DM) can be caused by poor glycemic control due to insulin deficiency, excessive insulin treatment for diabetic ketoacidosis, or excessive glucose administration to control hypoglycemia. Mauriac syndrome, which is characterized by hepatomegaly due to hepatic glycogenosis, growth retardation, delayed puberty, and Cushingoid features, is a rare diabetic complication. We report a case of hepatic glycogenosis mimicking Mauriac syndrome. A 14-year-old girl with poorly controlled type 1 DM was admitted to The Catholic University of Korea, Seoul St...
June 2015: Korean Journal of Pediatrics
V Sri Nagesh, Sanjay Kalra
Type 1 Diabetes is a complex disorder that is made more complex by the myriad of co-morbid conditions associated with it. Mauriac Syndrome is a well-known but nowadays uncommon condition that presents with growth retardation secondary to poor glycaemic control. Limited Joint Mobility is an often-missed association of diabetes. Its importance lies in the fact that it can cause significant impairment of fine movements in T1DM children. It also indicates poor glycaemic control over a long period of time and can be used as a surrogate marker for development of diabetic microvascular complications...
June 2015: JPMA. the Journal of the Pakistan Medical Association
Subhankar Chowdhury
Various data on type 1 diabetes mellitus (T1DM) have showed that the incidence of T1DM peaks at puberty. However, diabetes control and complications could be adversely affected by the physiological changes of puberty. In early years of insulin therapy, severe growth retardation with pubertal delay, like in Mauriac syndrome, have been reported. Insulin and leptin are metabolic factors, circulating in the periphery, which participate in the hypothalamic control of metabolism and reproduction. Insulin may be an important regulator of leptin in humans...
April 2015: Indian Journal of Endocrinology and Metabolism
Stefania Giordano, Antonio Martocchia, Lavinia Toussan, Manuela Stefanelli, Francesca Pastore, Antonio Devito, Marcello G Risicato, Luigi Ruco, Paolo Falaschi
Hepatic glycogenosis (HG) in type 1 diabetes is a underrecognized complication. Mauriac firstly described the syndrome characterized by hepatomegaly with altered liver enzymes, growth impairment, delay puberty and Cushingoid features, during childhood. HG in adulthood is characterized by the liver disorder (with circulating aminotransferase increase) in the presence of poor glycemic control (elevation of glycated hemoglobin, HbA1c levels). The advances in the comprehension of the metabolic pathways driving to the hepatic glycogen deposition point out the role of glucose transporters and insulin mediated activations of glucokinase and glycogen synthase, with inhibition of glucose-6-phosphatase...
December 15, 2014: World Journal of Diabetes
D Espinoza-Peralta, F J Gutierrez-Llamas, I García-Juárez
No abstract text is available yet for this article.
July 2014: Revista de Gastroenterología de México
Vanesa Verónica Oeschgef, Mariana Prieto
Mauriac syndrome is associated with poor metabolic control of type 1 diabetes mellitus, hepatomegaly and elevated transaminases characterized by growth failure and delayed puberty, which may be reversible with good glycemic control. There are few references published in recent years following the introduction of glycemic self-monitoring, new insulins and intensified treatment. We describe a series of five patients evaluated in our service with Mauriac syndrome characteristics, conducting a literature review of cases in Argentina...
April 2014: Archivos Argentinos de Pediatría
E Fitzpatrick, C Cotoi, A Quaglia, S Sakellariou, M E Ford-Adams, N Hadzic
BACKGROUND: Mauriac syndrome is characterised by growth failure, cushingoid appearance and hepatomegaly which occurs in patients with insulin dependent diabetes and was first described shortly after the introduction of insulin as a treatment for the condition. OBJECTIVE: To describe the clinical features, histological findings and outcome of young people with glycogenic hepatopathy, the hepatic manifestation of Mauriac syndrome (MS). DESIGN: Retrospective cohort study...
April 2014: Archives of Disease in Childhood
Manish Gutch, Rajeev Philip, Sanjay Saran, Rajiv Tyagi, Keshav Kumar Gupta
Mauriac syndrome is a rare syndrome associated with type 1 diabetes (T1DM) in children presenting with growth retardation, hepatomegaly, and cushingoid features. Recently, there has been re-emergence of this syndrome, especially with the use of premix insulin. A 15-year old type 1 diabetic boy, who was on premix insulin with erratic blood glucose, was referred to us for evaluation of short stature. He had significant short stature, hepatomegaly, and cushingoid features. His growth hormone (GH) stimulation was normal, and so was the overnight dexamethasone suppression test, based on which the diagnosis of Mauriac syndrome was reported...
October 2013: Indian Journal of Endocrinology and Metabolism
S V Madhu, Rajesh Jain, Saket Kant, Ved Prakash
No abstract text is available yet for this article.
July 2013: Indian Journal of Endocrinology and Metabolism
Joana Dias, Sofia Martins, Susana Carvalho, Olinda Marques, Ana Antunes
BACKGROUND/OBJECTIVE: Mauriac syndrome (MS) is a rare complication of type 1 diabetes mellitus (DM1). It is related to low insulin concentrations and is less common since longer-acting insulins became available. It is characterized by hepatomegaly, growth and puberty delay, and the presence of elevated transaminases and serum lipids. The aim of this study was to describe the patients from a pediatric diabetic population that fulfill the criteria of MS. MATERIALS AND METHODS: A retrospective analysis of the pediatric diabetic population with diagnostic criteria of MS currently followed at Hospital de Braga, was performed...
May 2013: Endocrinología y Nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición
Anne V N Schmetz, Mariëlle H Dekker-Maas, Marianne P den Breejen, Theo C J Sas
The treatment of children with type 1 diabetes mellitus has improved dramatically over the last few decades. The maintenance of acceptable metabolic control, nevertheless, remains challenging because the success of treatment is so dependent on patient compliance. Children with type 1 diabetes and poor metabolic control are at risk of developing Mauriac syndrome, a condition characterised by hepatomegaly, growth retardation and cushingoid features. A similar complication may occur in type-1 or type-2 adult diabetics; namely, glycogenic hepatopathy...
2012: Nederlands Tijdschrift Voor Geneeskunde
Makardhwaj Sarvadaman Shrivastava, Atul Vijay Palkar, Namita J Padwal, Nivedita Moulick
A 14-year-old male, diagnosed case of type 1 diabetes mellitus since 1 year, presented with uncontrolled blood glucose levels, non-compliance with insulin therapy and recurrent admissions with diabetic ketoacidosis. His blood glucose levels were difficult to control with wide fluctuations in insulin requirement. He had absent secondary sexual characteristics and hepatomegaly. Liver biopsy showed macrovesicularsteatosis without fibrosis or inflammation. Many glycogenated nuclei were present. He was started on intensive insulin therapy, whereby he showed subsequent regression of hepatomegaly and onset of pubertal spurt...
July 20, 2011: BMJ Case Reports
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