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    [Proposals for therapeutic decisions according to glucose trends in patients with type 1 diabetes].
    Pediatr Endocrinol Diabetes Metab 2016 ;22(3)
    Department of Internal Medicine and Diabetology, Poznan University of Medical Sciences, Poznan, Poland.
    Nowadays, self-management of diabetes is more and more often based on continuous and flash glucose monitoring systems. In addition to measuring current glucose levels, both systems provide blood glucose levels from the past few hours in the form of a graph, as well as an indication of glucose trends via arrows. This information adds a new dimension to the self-management of diabetes, and should result in the modification of diabetes therapy. Read More

    Characterization of the concurrent metabolic changes in brain and plasma during insulin-induced moderate hypoglycemia using (1)H NMR spectroscopy in juvenile rats.
    Neurosci Lett 2017 Jun 14;653:370-375. Epub 2017 Jun 14.
    Division of Neonatology, Department of Pediatrics, University of Minnesota, Mayo Mail Code 39, 420 Delaware Street, SE, Minneapolis, MN 55455, USA; Center for Neurobehavioral Development, University of Minnesota, Mayo Mail Code 39, 420 Delaware Street, SE, Minneapolis, MN 55455, USA. Electronic address:
    Treatment of hypoglycemia in children is currently based on plasma glucose measurements. This approach may not ensure neuroprotection since plasma glucose does not reflect the dynamic state of cerebral energy metabolism. To determine whether cerebral metabolic changes during hypoglycemia could be better characterized using plasma metabolomic analysis, insulin-induced acute hypoglycemia was induced in 4-week-old rats. Read More

    Self-care management of type 1 diabetes has improved in Swedish schools according to children and adolescents.
    Acta Paediatr 2017 Jun 13. Epub 2017 Jun 13.
    Department of Paediatrics, University Hospital Örebro, Örebro, Sweden.
    Aim: Age-appropriate support for diabetes self-care is essential during school time and we investigated the perceived quality of support children and adolescents received in 2015 and 2008.

    Methods: This national study was based on questionnaires answered by children and adolescents aged 6-15 years of age with type 1 diabetes attending schools or preschools in 2008 (n=317) and 2015 (n=570) and separate parental questionnaires. The subjects were recruited by Swedish paediatric diabetes units, with 41/44 taking part in 2008 and 41/42 in 2015. Read More

    Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia.
    Pediatr Diabetes 2017 Jun 9. Epub 2017 Jun 9.
    Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
    Objectives: To define the ranges of biochemical markers during hypoglycemia for the diagnosis of congenital hyperinsulinism (CHI), using high sensitivity insulin assays.

    Subjects: A total of 298 patients with CHI and 58 control patients with non-hyperinsulinemic hypoglycemia, who were diagnosed after 2007.

    Methods: The levels of biochemical markers (glucose, insulin, β-hydroxybutyrate [BHB], free fatty acids [FFA], lactate, ammonia) at the time of hypoglycemia were analyzed along with the maximal glucose infusion rate (GIR) to maintain euglycemia and clinical outcomes. Read More

    A 10-second sprint does not blunt hormonal counter-regulation to subsequent hypoglycaemia.
    Diabet Med 2017 Jun 6. Epub 2017 Jun 6.
    Telethon Kids Institute.
    Aim: To investigate whether a 10-second (s) sprint impairs the counter-regulatory response to subsequent hypoglycaemia.

    Methods: Nine people (five male, four female) with Type 1 diabetes, aged 21.1 ± 4. Read More

    A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.
    Am J Med Genet A 2017 Jun 6. Epub 2017 Jun 6.
    Manchester Academic Health Sciences Centre, Centre for Paediatrics and Child Health, Institute of Human Development, University of Manchester, Manchester, UK.
    Congenital growth hormone deficiency is a rare disorder with an incidence of approximately 1 in 4,000 live births. Pituitary development is under the control of a multitude of spatiotemporally regulated signaling molecules and transcription factors. Mutations in the genes encoding these molecules can result in hypopituitarism but for the majority of children with congenital hypopituitarism, the aetiology of their disease remains unknown. Read More

    C-Section Prevalence Among Obese Mothers and Neonatal Hypoglycemia: a Cohort Analysis of the Department of Gynecology and Obstetrics of the University of Lübeck.
    Geburtshilfe Frauenheilkd 2017 May 24;77(5):487-494. Epub 2017 May 24.
    Westpfalz-Klinikum GmbH, Kaiserslautern, Germany.
    Introduction: Data from the World Health Organization (WHO) demonstrates an increasing prevalence of obesity in Western countries. This study investigates the influence of obesity on the mode of delivery and the occurrence of hypoglycemia in newborns.

    Materials And Methods: A retrospective analysis of all deliveries at the Department of Gynecology and Obstetrics of the University of Lübeck, Germany was conducted over a period of eleven years with the primary outcome as non-elective C-sections and hypoglycemia of newborns from obese mothers. Read More

    Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism.
    Orphanet J Rare Dis 2017 Jun 2;12(1):108. Epub 2017 Jun 2.
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Moorenstrasse 5, 40225, Duesseldorf, Germany.
    Background: Treatment of severe diffuse congenital hyperinsulinism (CHI) without sufficient response to diazoxide is complicated by the lack of approved drugs. Therefore, patients are often hospitalized long-term or have to undergo pancreatic surgery if episodes of severe hypoglycaemia cannot be prevented. A long-acting somatostatin analogue, octreotide, has been reported to be an effective treatment option that prevents severe hypoglycaemia in children with CHI, and its off-label use is common in CHI. Read More

    Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control.
    Pediatr Diabetes 2017 Jun 1. Epub 2017 Jun 1.
    Glycogen Storage Disease Program, Connecticut Children's Medical Center, Hartford, Connecticut.
    Prior to 1971, type Ia glycogen storage disease was marked by life-threatening hypoglycemia, lactic acidosis, severe failure to thrive, and developmental delay. With the introduction of continuous feeds in the 1970s and cornstarch in the 1980s, the prognosis improved, but complications almost universally developed. Changes in the management of type Ia glycogen storage disease have resulted in improved metabolic control, and this manuscript reviews the increasing evidence that complications can be delayed or prevented with optimal metabolic control as previously was seen in diabetes. Read More

    Recurrent insulinoma in a 10-year-old boy with Down's syndrome.
    Endocrinol Diabetes Metab Case Rep 2017 24;2017. Epub 2017 May 24.
    King Faisal Specialist Hospital and Research Centre, Pediatrics, Jeddah, SASaudi Arabia.
    An insulinoma is a rare tumour with an incidence of four cases per million per year in adults. The incidence in children is not established. There is limited literature available in children with insulinoma, and only one case is reported in association with Down's syndrome in adults. Read More

    Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-Kinase.
    Eur J Endocrinol 2017 May 31. Epub 2017 May 31.
    R Semple, Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom of Great Britain and Northern Ireland
    Objective: Genetic activation of the insulin signal-transducing kinase AKT2 causes syndromic hypoketotic hypoglycaemia without elevated insulin. Mosaic activating mutations in class 1A phospatidylinositol-3-kinase (PI3K), upstream from AKT2 in insulin signalling, are known to cause segmental overgrowth, but the metabolic consequences have not been systematically reported. We assess the metabolic phenotype of 22 patients with mosaic activating mutations affecting PI3K, thereby providing new insight into the metabolic function of this complex node in insulin signal transduction. Read More

    Bowel management program for pediatric postoperative fecal incontinence in China: A surgeon's experience.
    Medicine (Baltimore) 2017 Jun;96(22):e7078
    aSouthern Medical University bDepartment of Pediatric Surgery cInstitute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
    The purpose of this article is to report the status of the efficacy of and long-term adherence to the Bowel Management Program (BMP) for fecal incontinence (FI) postoperation in China.Children over 3 years of age with FI postoperation referred to our medical center were included in the study. Evaluations were performed before and 2 years after their clinic visit. Read More

    Sporadic Insulinoma Presenting as Early Morning Night Terrors.
    Pediatrics 2017 May 24. Epub 2017 May 24.
    Departments of Pediatrics and
    A 16-year-old boy with a recent diagnosis of night terrors was evaluated for recurrent early morning hypoglycemia after an early morning seizure. Evaluation in clinic with critical laboratories identified hyperinsulinemic hypoglycemia. Additional investigation revealed a sporadic insulinoma as the etiology of his hypoglycemia and all symptoms were resolved after pancreaticoduodenectomy. Read More

    Intractable Hypoglycemia in the Setting of Autoimmune Overlap Syndrome.
    Pediatrics 2017 May 10. Epub 2017 May 10.
    Division of Pediatric Endocrinology and.
    Evaluation of hypoglycemia in a patient with known diabetes mellitus, although usually straightforward, can at times be challenging. We present the case of an 8 year-old Latina girl initially diagnosed with type 1 diabetes mellitus in the setting of multiple autoimmune disorders, including dermatomyositis and lupus nephritis. She subsequently developed signs of insulin resistance and severe hypoglycemia, which was found to be due to insulin-receptor autoantibodies. Read More

    Blood Glucose Control and Related Factors at a Camp for Korean Children and Adolescents with Type 1 Diabetes.
    Compr Child Adolesc Nurs 2017 May 30:1-13. Epub 2017 May 30.
    a Department of Nursing , Inha University , Incheon , South Korea.
    Data about Asian children and adolescents with type 1 diabetes are sparse. This study's objectives were to describe blood glucose (BG) levels and related factors at a camp for Korean children and adolescents with type 1 diabetes. This descriptive study was conducted January 8-10, 2015. Read More

    Atenolol Versus Propranolol for Treatment of Infantile Hemangiomas During the Proliferative Phase: A Retrospective Noninferiority Study.
    Pediatr Dermatol 2017 May 28. Epub 2017 May 28.
    Department of Cardiology, Connecticut Children's Medical Center, Hartford, Connecticut.
    Background/objectives: The nonselective beta-blocker propranolol is the current criterion standard for treatment of infantile hemangiomas (IHs) and the first therapy that the U.S. Food and Drug Administration has approved for the condition, but concern about adverse effects, such as bronchospasm, hypoglycemia, and sleep disturbances, has sparked interest in the use of alternative agents such as the selective β1 antagonist atenolol. Read More

    Insulin glulisine for continuous subcutaneous insulin infusion in pediatric type 1 diabetes.
    Pediatr Int 2017 May;59(5):647-649
    Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
    We evaluated the efficacy and safety of insulin glulisine (GLU) used for continuous s.c. insulin infusion (CSII) in 20 children with type 1 diabetes after 1 year of GLU treatment. Read More

    Dextrose gel treatment does not impair subsequent feeding.
    Arch Dis Child Fetal Neonatal Ed 2017 May 23. Epub 2017 May 23.
    Liggins Institute, University of Auckland, Auckland, New Zealand.
    Background: Dextrose gel is increasingly used as first-line treatment for neonatal hypoglycaemia. Treatment with 400 mg/kg previously has been reported to impair subsequent feeding. We sought to determine if the recommended dose of 200 mg/kg altered feeding. Read More

    Glycated albumin level during late pregnancy as a predictive factor for neonatal outcomes of women with diabetes.
    J Matern Fetal Neonatal Med 2017 Jun 9:1-6. Epub 2017 Jun 9.
    a Department of Pediatrics , Saitama Medical Center Jichi Medical University , Saitama , Japan.
    Purpose: To investigate the association between glycated albumin (GA) in diabetic mothers and complications in their children, and to determine GA cutoff values for predicting complications in infants.

    Materials And Methods: This hospital-based case-control study involved 71 Japanese diabetic mothers and their children. Mean GA values were compared between mothers of infants with and without complications, and relationship with number of complications was analyzed by Pearson's correlation. Read More

    Change in hemoglobin A1c one year following the 2014 American Diabetes Association guideline update.
    Diabetes Res Clin Pract 2017 Jul 10;129:169-172. Epub 2017 May 10.
    Department of Pediatrics, University of Colorado School of Medicine, United States; The Barbara Davis Center for Childhood Diabetes, Aurora, CO, United States.
    Aims: In June 2014, the American Diabetes Association lowered recommended hemoglobin A1c (HbA1c) targets from <8.5% (69mmol/mol) for children <6years of age and from <8.0% (64mmol/mol) for children 6-12years of age to <7. Read More

    Effectiveness of SmartGuard Technology in the Prevention of Nocturnal Hypoglycemia After Prolonged Physical Activity.
    Diabetes Technol Ther 2017 May;19(5):299-304
    1 Department of Pediatrics, University Hospital Motol and 2nd Faculty of Medicine, Charles University in Prague , Czech Republic .
    Background: The prevention of postexercise nocturnal hypoglycemia after prolonged physical activity using sensor-augmented pump (SAP) therapy with predictive low-glucose management (PLGM) has not been well studied. We conducted a study at a pediatric diabetes camp to determine whether a SAP with PLGM reduces the frequency of nocturnal hypoglycemia after prolonged physical activity more effectively than a SAP with a carbohydrate intake algorithm.

    Methods: During a 1-week sport camp, 20 children (aged 10-13 years) with type 1 diabetes (T1D) managed by SAP therapy either with (n = 7) or without PLGM (n = 13) were studied. Read More

    Relationship between Glycemic Levels and Treatment Outcome among Critically Ill Children admitted into Emergency Room in Enugu.
    BMC Pediatr 2017 May 16;17(1):126. Epub 2017 May 16.
    Department of Pediatric, University of Nigeria Teaching Hospital, Ituku-Ozalla, Enugu, Nigeria.
    Background: Critically ill children are those in need of immediate attention on arrival to an emergency room. The importance of glycemic level measurement as well as maintaining the patency of the airway, effective breathing and circulation cannot be overemphasied. It has been highlighted that the peak hyperglycemia and hypoglycemia predict poor prognosis, longer lengths of hospital stay and higher mortality. Read More

    Real-life experience of patients starting insulin degludec. A multicenter analysis of 1064 subjects from the German/Austrian DPV registry.
    Diabetes Res Clin Pract 2017 Jul 4;129:52-58. Epub 2017 May 4.
    Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany; German Center for Diabetes Research (DZD), Munich-Neuherberg, Germany.
    Background: The long-acting insulin analogue degludec is a therapeutic option for patients with type 1 (T1D) or type 2 diabetes (T2D). Aim of this analysis was to investigate differences in clinical characteristics of patients before and after initiating degludec use in a cohort of German/Austrian patients.

    Methods: 1064 subjects with T1D/T2D and documented degludec use from the Diabetes-Patient-Follow-Up (DPV) registry were included. Read More

    Continuous Subcutaneous Insulin Infusion in Children: A Pilot Study Validating a Protocol to Avoid Hypoglycemia at Initiation.
    Front Endocrinol (Lausanne) 2017 24;8:84. Epub 2017 Apr 24.
    Endocrinology Service and Diabetes Unit, CHU Sainte-Justine, Montreal, QC, Canada.
    Background: The occurrence of hypoglycemia and hyperglycemia during the first days after transition to continuous subcutaneous insulin infusion (CSII) in patients with type 1 diabetes has not been systematically studied in children. The aim of this prospective study was to demonstrate that the protocol applied in our diabetes clinic is safe at CSII initiation in children.

    Methods: We assessed 22 pediatric patients with type 1 diabetes, using continuous glucose monitoring (CGM) before and after CSII initiation (±3 days). Read More

    Dietary intake and risk of non-severe hypoglycemia in adolescents with type 1 diabetes.
    J Diabetes Complications 2017 Apr 20. Epub 2017 Apr 20.
    Department of Nutrition, University of North Carolina, Chapel Hill, NC, USA; Department of Medicine, School of Medicine, University of North Carolina, Chapel Hill, NC, USA. Electronic address:
    Aims: To determine the association between dietary intake and risk of non-severe hypoglycemia in adolescents with type 1 diabetes.

    Methods: Type 1 adolescents from a randomized trial wore a blinded continuous glucose monitoring (CGM) system at baseline for one week in free-living conditions. Dietary intake was calculated as the average from two 24-h dietary recalls. Read More

    A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID syndrome in a patient with a novel NFKB2 mutation.
    J Clin Endocrinol Metab 2017 May 3. Epub 2017 May 3.
    Division of Allergy, Immunology & Rheumatology, Departments of Pediatrics, Stanford University School of Medicine, Stanford, California.
    Context: DAVID syndrome (Deficient Anterior pituitary with Variable Immune Deficiency) is a rare disorder in which children present with symptomatic ACTH deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, termed common variable immunodeficiency (CVID). Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as either a cause of DAVID syndrome or of CVID without clinical hypopituitarism. However, to the best of our knowledge there have been no cases in which the endocrinopathy has presented in the absence of a prior clinical history of CVID. Read More

    Outpatient Closed-Loop Control with Unannounced Moderate Exercise in Adolescents Using Zone Model Predictive Control.
    Diabetes Technol Ther 2017 Jun 1;19(6):331-339. Epub 2017 May 1.
    1 Department of Chemical Engineering, University of California Santa Barbara , Santa Barbara, California.
    Background: The artificial pancreas (AP) has the potential to improve glycemic control in adolescents. This article presents the first evaluation in adolescents of the Zone Model Predictive Control and Health Monitoring System (ZMPC+HMS) AP algorithms, and their first evaluation in a supervised outpatient setting with frequent exercise.

    Materials And Methods: Adolescents with type 1 diabetes underwent 3 days of closed-loop control (CLC) in a hotel setting with the ZMPC+HMS algorithms on the Diabetes Assistant platform. Read More

    Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.
    Endocrinol Diabetes Metab Case Rep 2017 16;2017. Epub 2017 Mar 16.
    Paediatric Endocrinology Unit, Department of Paediatrics.
    Summary: HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported.

    Learning Points: Urine specimen study in cases of HHI with diazoxide response is necessary to rule out specific metabolic conditions (l-3-hydroxyacyl-coenzyme A dehydrogenase deficiency) or tubular renal involvement. Read More

    Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.
    Diabetes 2017 Jul 25;66(7):1901-1913. Epub 2017 Apr 25.
    Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
    Loss-of-function mutations of β-cell KATP channels cause the most severe form of congenital hyperinsulinism (KATPHI). KATPHI is characterized by fasting and protein-induced hypoglycemia that is unresponsive to medical therapy. For a better understanding of the pathophysiology of KATPHI, we examined cytosolic calcium ([Ca(2+)] i ), insulin secretion, oxygen consumption, and [U-(13)C]glucose metabolism in islets isolated from the pancreases of children with KATPHI who required pancreatectomy. Read More

    Discharge Criteria for the Late Preterm Infant: A Review of the Literature.
    Adv Neonatal Care 2017 Apr 24. Epub 2017 Apr 24.
    Department of Pediatrics, NorthBay Medical Center, Fairfield, California (Ms Quinn); College of Nursing, The University of Arizona, Tucson, Arizona (Ms Sparks and Dr Gephart).
    Background: Standardized late preterm infant (LPI) discharge criteria ensure best practice and help guide the neonatal provider to determine the appropriate level of care following birth. However, the location can vary from the well newborn setting to the neonatal intensive care unit (NICU).

    Purpose: The purpose of this review is to examine differences in LPI discharge criteria between the well newborn setting and the NICU by answering the clinical questions, "What are the recommended discharge criteria for the LPI and do they differ if admitted to the well newborn setting versus the NICU?"

    Search Strategy: Databases searched include CINAHL, TRIP, PubMed, and the Cochrane Library. Read More

    Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report.
    EJIFCC 2017 Mar 8;28(1):85-91. Epub 2017 Mar 8.
    Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
    Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss. Read More

    Global motion perception is related to motor function in 4.5-year-old children born at risk of abnormal development.
    Vision Res 2017 Jun 28;135:16-25. Epub 2017 Apr 28.
    School of Optometry and Vision Science, University of Auckland, New Zealand; School of Optometry and Vision Science, University of Waterloo, Canada. Electronic address:
    Global motion perception is often used as an index of dorsal visual stream function in neurodevelopmental studies. However, the relationship between global motion perception and visuomotor control, a primary function of the dorsal stream, is unclear. We measured global motion perception (motion coherence threshold; MCT) and performance on standardized measures of motor function in 606 4. Read More

    An Outpatient Methadone Weaning Program by a Neonatal Intensive Care Unit for Neonatal Abstinence Syndrome.
    Popul Health Manag 2017 Apr 21. Epub 2017 Apr 21.
    2 Department of Pediatrics, Lehigh Valley Health Network , Allentown, Pennsylvania.
    Through retrospective chart review, this study described characteristics and length of stay for a cohort of newborns discharged on methadone following an inpatient weaning for neonatal abstinence syndrome (NAS). Data were assessed for all term infants born between January 1, 2010, and December 31, 2014, admitted to the hospital with a co-diagnosis of NAS at discharge, for gestational age, length of stay, days on treatment protocol before discharge, time to once-daily interval methadone dosing, and hospital charges, as well as for categorical characteristics. The 53 patients were predominantly male (58%), white (71%), and covered by Medicaid insurance (72%). Read More

    Performance of an Artificial Pancreas System for Young Children with Type 1 Diabetes.
    Diabetes Technol Ther 2017 May 20;19(5):293-298. Epub 2017 Apr 20.
    1 Center for Diabetes Technology, University of Virginia , Charlottesville, Virginia.
    Background: Young children 5-8 years old with type 1 diabetes (T1D) exhibit clear needs for improved glycemic control but may be limited in their ability to safely interact with an artificial pancreas system. Our goal was to evaluate the safety and performance of an artificial pancreas (AP) system among young children with T1D.

    Research Design And Methods: In a randomized, crossover trial, children with T1D age 5-8 years were enrolled to receive on separate study periods (in random order) either the UVa AP using the DiAs Control Platform software with child-resistant lock-out screens (followed as an out-patient admission) or their usual insulin pump+continuous glucose monitor (CGM) care at home. Read More

    A Single Bout of High-Intensity Interval Training Reduces Awareness of Subsequent Hypoglycemia in Patients With Type 1 Diabetes.
    Diabetes 2017 Jul 18;66(7):1990-1998. Epub 2017 Apr 18.
    Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
    High-intensity interval training (HIIT) has gained increasing popularity in patients with diabetes. HIIT acutely increases plasma lactate levels. This may be important, since the administration of lactate during hypoglycemia suppresses symptoms and counterregulation while preserving cognitive function. Read More

    A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation.
    Pediatr Gastroenterol Hepatol Nutr 2017 Mar 27;20(1):61-64. Epub 2017 Mar 27.
    Department of Pediatric Gastroenterology Hepatology and Nutrition, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
    Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, "the odor of sweaty feet," abdominal pain, vomiting, feeding intolerance, shock and coma. Read More

    A Pilot Study Evaluating Therapeutic Response of Different Dosage of Oral Glucocorticoid in Two Children with Familial Glucocorticoid Deficiency Presenting with Diffuse Mucocutaneous Hyperpigmentation.
    Indian J Dermatol 2017 Mar-Apr;62(2):191-194
    Department of Pediatrics, Dr. B. C. Roy Post Graduate Institute of Paediatric Sciences, Kolkata, West Bengal, India.
    Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive potentially life-threatening condition, characterized by glucocorticoid deficiency, preserved aldosterone/renin secretion, and secondary rise in plasma adrenocorticotropic hormone level. This occurs due to either mutation in adrenocorticotropic receptor (25%, FGD Type-1) or in the MC2 receptor accessory protein (15%-20%). However, in about 50% patients, no identifiable mutations have been identified. Read More

    Flash glucose monitoring system may benefit children and adolescents with type 1 diabetes during fasting at Ramadan.
    Saudi Med J 2017 Apr;38(4):366-371
    Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. E-mail.
    Objectives: To assess the benefit of using the flash glucose monitoring system (FGMS) in children and adolescents with type 1 diabetes mellitus (T1DM) during Ramadan fasting. Methods: A prospective pilot study of 51 participants visited the pediatric diabetes clinic at King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia from between June until and July 2016. The FreeStyle® Libre™ FGMS (Abbott Diabetes Care, Alameda, CA, USA) was used. Read More

    Alcohol and cigarette use among adolescents with type 1 diabetes.
    Eur J Pediatr 2017 Jun 5;176(6):713-722. Epub 2017 Apr 5.
    Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
    In this study, we compare the prevalence of alcohol and cigarette use among Polish adolescents with type 1 diabetes mellitus (T1DM) (n = 209), aged 15-18 years, with that of a large cohort of their healthy peers, using standardized questionnaire used in the European School Survey Project on Alcohol and Drugs (ESPAD). The lifetime, previous year, and past 30-day prevalence of alcohol consumption was high among adolescents with T1DM but lower than in the controls (82.8 vs 92. Read More

    A multicentre study of patients with Timothy syndrome.
    Europace 2017 Mar 24. Epub 2017 Mar 24.
    Department of Cardiology, Royal Hospital for Sick Children, Glasgow, UK.
    Aims: Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia. The aim of this study was to categorize the phenotypes and examine the outcomes of patients with TS.

    Methods And Results: All patients diagnosed with TS in the United Kingdom over a 24-year period were reviewed. Read More

    Neonatal Hypoglycemia.
    Pediatr Rev 2017 Apr;38(4):147-157
    Division of Neonatology, Children's Hospital at Montefiore, Bronx, NY.
    Lower blood glucose values are common in the healthy neonate immediately after birth as compared to older infants, children, and adults. These transiently lower glucose values improve and reach normal ranges within hours after birth. Such transitional hypoglycemia is common in the healthy newborn. Read More

    Syncope In Pediatric Patients: A Practical Approach To Differential Diagnosis And Management In The Emergency Department.
    Pediatr Emerg Med Pract 2017 Apr 2;14(4):1-28. Epub 2017 Apr 2.
    Chief of Pediatric Emergency Medicine Services, Massachusetts General Hospital; Instructor in Pediatrics, Harvard Medical School, Boston, MA.
    Syncope is a condition that is often seen in the emergency department. Most syncope is benign, but it can be a symptom of a life-threatening condition. While syncope often requires an extensive workup in adults, in the pediatric population, critical questioning and simple, noninvasive testing is usually sufficient to exclude significant or life-threatening causes. Read More

    Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.
    J Pediatr Endocrinol Metab 2017 Apr;30(4):471-474
    Genetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme, UCL Institute Child Health, London.
    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. Read More

    Sex-Specific Life Course Changes in the Neuro-Metabolic Phenotype of Glut3 Null Heterozygous Mice: Ketogenic Diet Ameliorates Electroencephalographic Seizures and Improves Sociability.
    Endocrinology 2017 Apr;158(4):936-949
    Department of Pediatrics, Division of Neonatology & Developmental Biology, Neonatal Research Center at the UCLA Children's Discovery and Innovation Institute.
    We tested the hypothesis that exposure of glut3+/- mice to a ketogenic diet ameliorates autism-like features, which include aberrant behavior and electrographic seizures. We first investigated the life course sex-specific changes in basal plasma-cerebrospinal fluid (CSF)-brain metabolic profile, brain glucose transport/uptake, glucose and monocarboxylate transporter proteins, and adenosine triphosphate (ATP) in the presence or absence of systemic insulin administration. Glut3+/- male but not female mice (5 months of age) displayed reduced CSF glucose/lactate concentrations with no change in brain Glut1, Mct2, glucose uptake or ATP. Read More

    Hepatic Insulin Resistance and Altered Gluconeogenic Pathway in Premature Baboons.
    Endocrinology 2017 Jan 17. Epub 2017 Jan 17.
    Department of Pediatrics, Neonatology Division, University of Texas Health Science Center at San Antonio, San Antonio, TX, 78229, United States.
    Premature infants have altered glucose regulation early in life and increased risk for diabetes in adulthood. Although prematurity leads to an increased risk of diabetes and metabolic syndrome in adult life, the role of hepatic glucose regulation and adaptation to an early extra-uterine environment in preterm infants remain unknown. The purpose of this study was to investigate developmental differences in glucose metabolism, hepatic protein content and gene expression of key insulin signaling/gluconeogenic molecules. Read More

    Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa).
    Sci Rep 2017 Mar 20;7:44408. Epub 2017 Mar 20.
    Cardiovascular and Metabolic Disorders Program, Duke-NUS Medical School Singapore, Singapore.
    Glycogen storage disease type Ia (GSDIa, von Gierke disease) is the most common glycogen storage disorder. It is caused by the deficiency of glucose-6-phosphatase, an enzyme which catalyses the final step of gluconeogenesis and glycogenolysis. Clinically, GSDIa is characterized by fasting hypoglycaemia and hepatic glycogen and triglyceride overaccumulation. Read More

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