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https://www.readbyqxmd.com/read/29753922/beckwith-wiedemann-syndrome-a-population-based-study-on-prevalence-prenatal-diagnosis-associated-anomalies-and-survival-in-europe
#1
Ingeborg Barisic, Ljubica Boban, Diana Akhmedzhanova, Jorieke E H Bergman, Clara Cavero-Carbonell, Ieva Grinfelde, Anna Materna-Kiryluk, Anna Latos-Bielenska, Hanitra Randrianaivo, Natalya Zymak-Zakutnya, Ivona Sansovic, Monica Lanzoni, Joan K Morris
Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors. We present epidemiological and clinical aspects of patients with Beckwith Wiedemann syndrome diagnosed prenatally or in the early years of life, using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. The study population consisted of 371 cases identified between January 1990 and December 2015 in 34 registries from 16 European countries...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29739729/congenital-hyperinsulinism-and-evolution-to-sulfonylurea-responsive-diabetes-later-in-life-due-to-a-novel-homozygous-p-l171f-abcc8-mutation
#2
Emregül Işık, Huseyin Demirbilek, Jayne A L Houghton, Sian Ellard, Sarah E Flanagan, Khalid Hussain
BACKGROUND: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50 % of all CHI cases. Hyperinsulinaemic hypoglycaemia (HH) in infancy and diabetes in later life have been reported in subjects with HNF1A , HNF4A and ABCC8 mutations. CASE REPORT: Herein, we present a child who was diagnosed with CHI at birth, then developed diabetes mellitus at the age of 9 years due to a novel homozygous missense, p...
March 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29723237/association-of-maternal-nutrition-with-transient-neonatal-hyperinsulinism
#3
Mathilde Louvigne, Stephanie Rouleau, Emmanuelle Caldagues, Isabelle Souto, Yanis Montcho, Audrey Migraine Bouvagnet, Olivier Baud, Jean Claude Carel, Geraldine Gascoin, Regis Coutant
OBJECTIVE: The objective was to determine whether maternal nutritional factors are associated with transient neonatal hyperinsulinism (HI). DESIGN AND SETTING: Case control study in 4 French tertiary Obstetrics and Neonatology Departments between 2008 and 2015. METHODS: Sixty-seven mothers of neonates diagnosed with transient hyperinsulinism and 113 mothers of controls were included. The screening for hyperinsulinemic hypoglycemia in neonates was performed because of clinical symptoms suggestive of hypoglycemia or in the presence of conventional risk factors (small-for-gestational-age, prematurity, anoxo-ischemia, hypothermia, macrosomia, gestational diabetes)...
2018: PloS One
https://www.readbyqxmd.com/read/29715355/effect-of-glyburide-vs-subcutaneous-insulin-on-perinatal-complications-among-women-with-gestational-diabetes-a-randomized-clinical-trial
#4
RANDOMIZED CONTROLLED TRIAL
Marie-Victoire Sénat, Helene Affres, Alexandra Letourneau, Magali Coustols-Valat, Marie Cazaubiel, Helene Legardeur, Julie Fort Jacquier, Nathalie Bourcigaux, Emmanuel Simon, Anne Rod, Isabelle Héron, Virginie Castera, Loic Sentilhes, Florence Bretelle, Catherine Rolland, Mathieu Morin, Philippe Deruelle, Celine De Carne, François Maillot, Gael Beucher, Eric Verspyck, Raoul Desbriere, Sandrine Laboureau, Delphine Mitanchez, Jean Bouyer
Importance: Randomized trials have not focused on neonatal complications of glyburide for women with gestational diabetes. Objective: To compare oral glyburide vs subcutaneous insulin in prevention of perinatal complications in newborns of women with gestational diabetes. Design, Settings, and Participants: The Insulin Daonil trial (INDAO), a multicenter noninferiority randomized trial conducted between May 2012 and November 2016 (end of participant follow-up) in 13 tertiary care university hospitals in France including 914 women with singleton pregnancies and gestational diabetes diagnosed between 24 and 34 weeks of gestation...
May 1, 2018: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29710737/cerebral-glucose-deficiency-versus-oxygen-deficiency-in-neonatal-encephalopathy
#5
A M Rudolph
Hypoxic-ischemic encephalopathy (HIE) in newborn infants is generally considered to result from decreased arterial oxygen content or cerebral blood flow. Cerebral injury similar to that of HIE has been noted with hypoglycemia. Studies in fetal lambs have shown that ventilation with 3% oxygen did not change cerebral blood flow, but ventilation with 100% oxygen resulted in marked reduction in cerebral blood flow, glucose delivery and glucose consumption. Blood glucose concentration falls markedly after birth; this, associated with the fall in cerebral blood flow, greatly reduces glucose supply to the brain...
April 24, 2018: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/29685731/gestational-diabetes-mellitus-glycemic-control-during-pregnancy-and-neonatal-outcomes-of-twin-and-singleton-pregnancies
#6
María Augusta Guillén-Sacoto, Beatriz Barquiel, Natalia Hillman, María Ángeles Burgos, Lucrecia Herranz
OBJECTIVE: To assess the impact of glycemic control in gestational on neonatal weight and metabolic complications of twin and singleton pregnancies. METHODS: An observational, retrospective study to monitor 120 twin and 240 singleton pregnancies in women with GDM. Maternal glycemic parameters during pregnancy (oral glucose tolerance test results, treatment, insulinization rate, mean HbA1c in the third trimester), and neonatal complications and weight were recorded...
April 20, 2018: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/29605395/prophylactic-dextrose-gel-does-not-prevent-neonatal-hypoglycemia-a-quasi-experimental-pilot-study
#7
Sarah M Coors, Joshua J Cousin, Joseph L Hagan, Jeffrey R Kaiser
OBJECTIVE: To test the hypothesis that prophylactic dextrose gel administered to newborn infants at risk for hypoglycemia will increase the initial blood glucose concentration after the first feeding and decrease neonatal intensive care unit (NICU) admissions for treatment of asymptomatic neonatal hypoglycemia compared with feedings alone. STUDY DESIGN: This quasi-experimental study allocated asymptomatic at-risk newborn infants (late preterm, birth weight <2500 or >4000 g, and infants of mothers with diabetes) to receive prophylactic dextrose gel (Insta-Glucose; Valeant Pharmaceuticals North America LLC, Bridgewater, New Jersey); other at-risk infants formed the control group...
March 28, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29579758/glucose-gel-in-infants-at-risk-for-transitional-neonatal-hypoglycemia
#8
Kartikeya Makker, Rana Alissa, Christopher Dudek, Laura Travers, Carmen Smotherman, Mark L Hudak
OBJECTIVE:  To evaluate whether glucose gel as a supplement to feedings in infants admitted to the newborn nursery at risk for neonatal hypoglycemia (NH) reduces the frequency of transfer to a higher level of care for intravenous dextrose treatment. STUDY DESIGN:  We revised our newborn nursery protocol for management of infants at risk for NH to include use of 40% glucose gel (200 mg/kg). Study population included late preterm, small and large for gestational age infants, and infants of diabetic mothers...
March 26, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29502916/inborn-errors-of-metabolism-with-myopathy-defects-of-fatty-acid-oxidation-and-the-carnitine-shuttle-system
#9
REVIEW
Areeg El-Gharbawy, Jerry Vockley
Fatty acid oxidation disorders (FAODs) and carnitine shuttling defects are inborn errors of energy metabolism with associated mortality and morbidity due to cardiomyopathy, exercise intolerance, rhabdomyolysis, and liver disease with physiologic stress. Hypoglycemia is characteristically hypoketotic. Lactic acidemia and hyperammonemia may occur during decompensation. Recurrent rhabdomyolysis is debilitating. Expanded newborn screening can detect most of these disorders, allowing early, presymptomatic treatment...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502912/inborn-errors-of-metabolism-with-hypoglycemia-glycogen-storage-diseases-and-inherited-disorders-of-gluconeogenesis
#10
REVIEW
David A Weinstein, Ulrike Steuerwald, Carolina F M De Souza, Terry G J Derks
Although hyperinsulinism is the predominant inherited cause of hypoglycemia in the newborn period, inborn errors of metabolism are the primary etiologies after 1 month of age. Disorders of carbohydrate metabolism often present with hypoglycemia when fasting occurs. The presentation, diagnosis, and management of the hepatic glycogen storage diseases and disorders of gluconeogenesis are reviewed.
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29483803/a-case-of-donohue-syndrome-leprechaunism-with-a-novel-mutation-in-the-insulin-receptor-gene
#11
Birgül Kirel, Özkan Bozdağ, Pelin Köşger, Sultan Durmuş Aydoğdu, Eylem Alıncak, Neslihan Tekin
Donohue syndrome (Leprechaunism) is characterized by severe insulin resistance, hyperinsulinemia, postprandial hyperglycemia, preprandial hypoglycemia, intrauterine and postnatal growth retardation, dysmorphic findings, and clinical and laboratory findings of hyperandrogenemia due to homozygous or compound heterozygous inactivating mutations in the insulin receptor gene. A female newborn presented with lack of subcutaneous fat tissue, bilateral simian creases, hypertrichosis, especially on her face, gingival hypertrophy, cliteromegaly, and prominent nipples...
December 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29437933/well-appearing-newborn-with-a-vesiculobullous-rash-at-birth
#12
Sarah E Stewart, Jody L Lin, Jennifer L Everhart, Trung H Pham, Ann L Marqueling, Kerri E Rieger, Sarah L Hilgenberg
A term, appropriate-for-gestational-age, male infant born via normal spontaneous vaginal delivery presented at birth with a full-body erythematous, vesiculobullous rash. He was well-appearing with normal vital signs and hypoglycemia that quickly resolved. His father had a history of herpes labialis. His mother had an episode of herpes zoster during pregnancy and a prolonged rupture of membranes that was adequately treated. The patient underwent a sepsis workup, including 2 attempted but unsuccessful lumbar punctures, and was started on broad-spectrum antibiotics and acyclovir, given concerns about bacterial or viral infection...
February 6, 2018: Pediatrics
https://www.readbyqxmd.com/read/29437908/a-quality-improvement-initiative-to-reduce-nicu-transfers-for-neonates-at-risk-for-hypoglycemia
#13
Sherry LeBlanc, Jamie Haushalter, Carl Seashore, Karen S Wood, Michael J Steiner, Ashley G Sutton
BACKGROUND AND OBJECTIVE: Neonatal hypoglycemia is a common problem, often requiring management in the NICU. Nonpharmacologic interventions, including early breastfeeding and skin-to-skin care (SSC), may prevent hypoglycemia and the need to escalate care. Our objective was to maintain mother-infant dyads in the mother-infant unit by decreasing hypoglycemia resulting in NICU transfer. METHODS: Inborn infants ≥35 weeks' gestation with at least 1 risk factor for hypoglycemia were included...
February 8, 2018: Pediatrics
https://www.readbyqxmd.com/read/29411343/does-reactive-hypoglycemia-during-the-100-g-oral-glucose-tolerance-test-adversely-affect-perinatal-outcomes
#14
Ilhan Bahri Delibas, Sema Tanriverdi, Bulent Cakmak
OBJECTIVES: To determine whether pregnant women who have reactive hypoglycemia during the 100 g oral glucose toler-ance test (OGTT) are at an increased risk of poor pregnancy outcomes. MATERIAL AND METHODS: We retrospectively analyzed perinatal data from 413 women who underwent a 3 h OGTT at 24-28 weeks of gestation and gave birth in our clinics between January 2012 and December 2014. RESULTS: According to OGTT results, the majority of the subjects were normoglycemic (n = 316, 76...
2018: Ginekologia Polska
https://www.readbyqxmd.com/read/29372144/antenatal-corticosteroids-and-outcomes-of-preterm-small-for-gestational-age-neonates-in-a-single-medical-center
#15
Woo Jeng Kim, Young Sin Han, Hyun Sun Ko, In Yang Park, Jong Chul Shin, Jeong Ha Wie
Objective: This study investigated the effect of an antenatal corticosteroid (ACS) in preterm small-for-gestational-age (SGA) neonate. Methods: This study was a retrospective cohort study. We compared women who received ACS with unexposed controls and evaluated neonatal complications among those having a singleton SGA neonate born between 29 and 34 complete gestational weeks. The neonates born after 32 weeks of gestation were divided into subgroups. Multivariable logistic regression analysis was performed...
January 2018: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/29346140/neonatal-hypoglycemia-continuous-glucose-monitoring
#16
Rajesh Shah, Christopher J D McKinlay, Jane E Harding
PURPOSE OF REVIEW: Continuous glucose monitoring (CGM) is increasingly used in the management of diabetes in children and adults, but there are few data regarding its use in neonates. The purpose of this article is to discuss the potential benefits and limitations of CGM in neonates. RECENT FINDINGS: Smaller electrodes in new sensors and real-time monitoring have made CGM devices more approachable for neonatal care. CGM is well tolerated in infants including very low birth weight babies, and few if any local complications have been reported...
April 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29329447/congenital-hyperinsulinism-and-hypopituitarism-attributable-to-a-mutation-in-foxa2
#17
Mary Ellen Vajravelu, Jinghua Chai, Bryan Krock, Samuel Baker, David Langdon, Craig Alter, Diva D De León
Context: Persistent hypoglycemia in the newborn period most commonly occurs as a result of hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic hormone deficiency. Forkhead box A2 (Foxa2) is a transcription factor shown in mouse models to influence insulin secretion by pancreatic β cells. In addition, Foxa2 is involved in regulation of pituitary development, and deletions of FOXA2 have been linked to panhypopituitarism...
March 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29285448/maternal-and-neonatal-outcome-in-mothers-with-gestational-diabetes-mellitus
#18
G Thiruvikrama Prakash, Ashok Kumar Das, Syed Habeebullah, Vishnu Bhat, Suryanarayana Bettadpura Shamanna
Introduction: Gestational diabetes mellitus (GDM) is common and is accompanied with other comorbidities. Challenges to treatment exist at our institute as it serves women with low income. This study assessed the burden of comorbidities and the outcome of GDM. Methods: This was a prospective, observational study of women with gestational diabetes attending the obstetrics department from September 2012 to April 2014. GDM was diagnosed based on the International Association of Diabetes and Pregnancy Study Groups criteria...
November 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29285339/medium-chain-acyl-coa-dehydrogenase-deficiency-in-a-premature-infant
#19
Steven F Dobrowolski, Lina Ghaloul-Gonzalez, Jerry Vockley
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is identified by newborn screening (NBS). The natural history of MCADD includes metabolic decompensation with hypoglycemia, hyperammonemia, seizures, coma, and death. NBS enables expectant management thus severe symptoms are rare in managed patients. We report premature birth of an MCADD affected infant and resultant management challenges. Nutritional support advanced from parenteral nutrition at 24 hours to enteral feeds. A NBS sample was collected day 2, positive results for MCADD was reported day six, and diagnostic tests were performed day seven...
November 21, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29217498/sirolimus-induced-hepatitis-in-two-cases-with-hyperinsulinemic-hypoglycemia
#20
Belma Haliloğlu, Heybet Tüzün, Sarah E Flanagan, Muhittin Çelik, Avni Kaya, Sian Ellard, Mehmet Nuri Özbek
BACKGROUND: Sirolimus has been described for the treatment of the diffuse form of congenital hyperinsulinism (CHI) unresponsive to diazoxide and octreotide without severe side effect. CASE REPORT: Two newborns with CHI due to homozygous ABCC8 gene mutations were started sirolimus due to unresponsive to medical treatment on day 21 and 17, and good response was observed. At follow-up, liver enzyme levels increased at 10 and 2 month of therapy in case 1 and 2, respectively (serum sirolimus level 1...
December 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
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