当前位置： SCI文献检索 > BRAIN & DEVELOPMENT期刊下所有文献 > Propionic acidemia mimicking diabetic ketoacidosis.

Propionic acidemia mimicking diabetic ketoacidosis.

Abstract：

:Propionic acidemia manifesting with hyperglycemia is rare. Few cases have been reported mainly of the neonatal-onset form associated with high mortality. We report a 9-month-old Palestinian boy who manifested with coma, severe hyperglycemia and ketoacidosis mimicking diabetic ketoacidosis. Family history of unexplained infant deaths was helpful in reaching the correct diagnosis. In response to therapy, the patient regained consciousness without neurologic deficits and had normal examination. This is, to our knowledge, the first case report of late-onset propionic acidemia that had this presentation and survived.

journal_name

Brain Dev

journal_title

Brain & development

authors

Dweikat IM,Naser EN,Abu Libdeh AI,Naser OJ,Abu Gharbieh NN,Maraqa NF,Abu Libdeh BY

doi

10.1016/j.braindev.2010.06.016

subject

Has Abstract

pub_date

2011-05-01 00:00:00

pages

428-31

issue

5

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(10)00147-6

journal_volume

33

pub_type

杂志文章

相关文献

BRAIN & DEVELOPMENT文献大全
  • Syndrome of septo-optic-pituitary dysplasia: the clinical spectrum.

    abstract：:Septo-optic-pituitary dysplasia is a syndrome characterized by abnormalities of midline brain structures, optic nerve hypoplasia, and congenital hypothalamic-pituitary insufficiency. Four infants, diagnosed as having clinical variations of this disorder, are described. The first had agenesis of the septum pellucidum a...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(86)80075-4

    authors： Morishima A,Aranoff GS

    更新日期：1986-01-01 00:00:00

  • Rituximab was effective for acute disseminated encephalomyelitis followed by recurrent optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies.

    abstract：BACKGROUND:The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. PATIENT:We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurren...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2018.03.011

    authors： Nagashima M,Osaka H,Ikeda T,Matsumoto A,Miyauchi A,Kaneko K,Nakashima I,Nakano Y,Wakabayashi K,Monden Y,Yamagata T

    更新日期：2018-08-01 00:00:00

  • A group of very preterm children characterized by atypical gaze patterns.

    abstract：OBJECTIVE:Very preterm (VP) children are at risk for social difficulties, including autism spectrum disorder (ASD). This study used eye tracking to determine viewing behaviors that may reflect these difficulties. DESIGN:The gaze patterns of 47 VP (mean gestational age: 28weeks, mean birth weight: 948g, and mean chrono...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2016.10.001

    authors： Sekigawa-Hosozawa M,Tanaka K,Shimizu T,Nakano T,Kitazawa S

    更新日期：2017-03-01 00:00:00

  • A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.

    abstract：INTRODUCTION:Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently bee...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2018.01.010

    authors： Ieda D,Hori I,Nakamura Y,Ohshita H,Negishi Y,Shinohara T,Hattori A,Kato T,Inukai S,Kitamura K,Kawai T,Ohara O,Kunishima S,Saitoh S

    更新日期：2018-06-01 00:00:00

  • Hyperthermia-induced seizures with a servo system: neurophysiological roles of age, temperature elevation rate and regional GABA content in the rat.

    abstract：:A servo system including a microwave generator was applied to raise a rat's body temperature at a pre-set rate. Using this system the effects of age and the temperature elevation rate upon febrile seizures in rats were studied. The relationship between the brain GABA content and hyperthermia was also studied. From the...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(12)80307-x

    authors： Morimoto T,Nagao H,Sano N,Takahashi M,Matsuda H

    更新日期：1990-01-01 00:00:00

  • Changes in BAER amplitudes after perinatal asphyxia during the neonatal period in term infants.

    abstract：:We recorded serially brainstem auditory evoked response (BAER) during the neonatal period in term infants who suffered perinatal asphyxia. The amplitudes of BAER components was analysed at 40 dB above BAER threshold of each subject who had a threshold

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2006.03.004

    authors： Jiang ZD,Shao XM,Wilkinson AR

    更新日期：2006-10-01 00:00:00

  • The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid.

    abstract：:Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical man...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2008.07.008

    authors： Arslan M,Vurucu S,Balamtekin N,Unay B,Akin R,Kurt I,Ozcan O

    更新日期：2009-06-01 00:00:00

  • Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case.

    abstract：:Wolf-Hirschhorn syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and ca...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/S0387-7604(03)00125-6

    authors： Tutunculer F,Acunas B,Hicdonmez T,Deviren A,Pelitli V

    更新日期：2004-04-01 00:00:00

  • Neurophysiological studies in the Leigh syndrome.

    abstract：:We performed neurophysiological studies in 12 patients with the Leigh syndrome (6 pathologically confirmed and 6 clinically diagnosed). The results are compared with data derived from a literature survey of 173 Leigh syndrome patients. We found no positive contribution of neurophysiological studies towards the diagnos...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(86)80004-3

    authors： Van Erven PM,Colon EJ,Gabreëls FJ,Renier WO,Vingerhoets DM

    更新日期：1986-01-01 00:00:00

  • Validity and reliability of Ability for Basic Movement Scale for Children (ABMS-C) in disabled pediatric patients.

    abstract：:The objective of this pilot study was to test the validity and reliability of a new scale, the Ability for Basic Movement Scale for Children (ABMS-C). A total of 45 pediatric patients with disabilities (aged 0.1-8.8 years; 29 males, 16 females) participated in this prospective study. To prove the validity and reliabil...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2010.12.001

    authors： Miyamura K,Hashimoto K,Honda M

    更新日期：2011-06-01 00:00:00

  • Temporal trends in perinatal mortality and cerebral palsy: A regional population-based study in southern Japan.

    abstract：AIM:The prevalence of cerebral palsy (CP) has not decreased in developed countries over the past 30 years. We examined gestational age-specific trends in the prevalence of CP. METHODS:This unselected, population-based study was conducted in Miyazaki prefecture, Japan (10,000 deliveries annually), where 102,999 deliver...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2015.10.002

    authors： Kodama Y,Sameshima H,Ikenoue T

    更新日期：2016-04-01 00:00:00

  • Serum and cerebrospinal fluid cytokines in children with acute encephalopathy.

    abstract：BACKGROUND:The pathogenesis of acute encephalopathy (AE) remains unclear, and a biomarker has not been identified. METHODS:Levels of 49 cytokines and chemokines, including osteopontin (OPN), were measured in serum and cerebrospinal fluid (CSF) of children with AE (n = 17) or febrile convulsion (FC; n = 8; control grou...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2019.11.002

    authors： Kawahara Y,Morimoto A,Oh Y,Furukawa R,Wakabayashi K,Monden Y,Osaka H,Yamagata T

    更新日期：2020-02-01 00:00:00

  • Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.

    abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2011.09.014

    authors： Kobayashi Y,Ohashi T,Akasaka N,Tohyama J

    更新日期：2012-08-01 00:00:00

  • Tissue culture study on neuronal migration in the rat cerebral cortex: effects of low dose radiation.

    abstract：:In order to elucidate the molecular mechanisms underlying neuronal migration in the developing rat cerebral cortex, a novel primary tissue culture system in which neuronal migration can be evaluated was developed. Using this culture system, through autoradiographic studies we demonstrated the migration of [3H]thymidin...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(97)00057-0

    authors： Matsushita K,Yoshioka H,Fushiki S,Hirai K,Kihara M,Kadono N,Hasegawa K,Goma H,Sawada T

    更新日期：1997-11-01 00:00:00

  • Vasopressin in the cerebrospinal fluid of febrile children with or without seizures.

    abstract：:Immaturity in water and electrolyte balance in the brain has been considered to increase the susceptibility of young animals and children to febrile convulsions (FCs). Arginine-vasopressin (AVP) is involved in the regulation of several centrally mediated events such as modulation of fever and the ease with which water...

    journal_title：Brain & development

    pub_type： 临床试验,杂志文章

    doi：10.1016/0387-7604(95)00146-8

    authors： Kiviranta T,Tuomisto L,Jolkkonen J,Airaksinen EM

    更新日期：1996-03-01 00:00:00

  • Developmental changes in autonomic responses are associated with future reward/punishment expectations: A study of sympathetic skin responses in the Markov decision task.

    abstract：OBJECTIVE:Autonomic nervous system activity is recognized as a major component of emotional responses. Future reward/punishment expectations depend upon the process of decision making in the frontal lobe, which is considered to play an important role in executive function. The aim of this study was to investigate the r...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2017.03.004

    authors： Hosaka H,Aoyagi K,Kaga Y,Kanemura H,Sugita K,Aihara M

    更新日期：2017-08-01 00:00:00

  • Molybdenum cofactor deficiency: clinical features in a Turkish patient.

    abstract：:The molybdenum cofactor is essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischae...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2006.10.007

    authors： Per H,Gümüş H,Ichida K,Cağlayan O,Kumandaş S

    更新日期：2007-07-01 00:00:00

  • Hydranencephaly in twins.

    abstract：:The sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(80)80026-x

    authors： Yoshioka H,Yoshida A,Ochi M,Mino M,Kasubuchi Y,Sawada T,Kusunoki T

    更新日期：1980-01-01 00:00:00

  • Importance of Rett syndrome in child neurology.

    abstract：:The syndrome of brain atrophy in girls described by Andreas Rett in 1966 [Rett, Wien Klin Wochenschr, 1966;116:723-726] was brought to the attention of the English-speaking world by Hagberg et al. in 1983 [Hagberg et al., Ann Neurol, 1983;14:471-479]. Four clinical stages after the age of 6 months were described in cl...

    journal_title：Brain & development

    pub_type： 杂志文章,评审

    doi：10.1016/s0387-7604(01)00335-7

    authors： Dunn HG

    更新日期：2001-12-01 00:00:00

  • The metaphor and sarcasm scenario test: a new instrument to help differentiate high functioning pervasive developmental disorder from attention deficit/hyperactivity disorder.

    abstract：:It is sometimes difficult to discriminate high functioning pervasive developmental disorders (HFPDD) from attention deficit/hyperactivity disorders (AD/HD) in young children because of the behavioral similarities between the two. For adequate diagnosis, understanding fundamental differences in their social cognitive a...

    journal_title：Brain & development

    pub_type： 临床试验,杂志文章

    doi：10.1016/S0387-7604(03)00170-0

    authors： Adachi T,Koeda T,Hirabayashi S,Maeoka Y,Shiota M,Wright EC,Wada A

    更新日期：2004-08-01 00:00:00

  • Electroencephalographic changes before the onset of symptomatic West syndrome.

    abstract：:To clarify the characteristics of the mode of appearance and morphology of epileptiform discharges before the onset of West syndrome (WS). The subjects were 25 infants whose electroencephalograms (EEGs) were recorded before the onset of WS and whose first EEG was recorded before 6 months of corrected age (CA). We exte...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2007.04.004

    authors： Endoh F,Yoshinaga H,Kobayashi K,Ohtsuka Y

    更新日期：2007-11-01 00:00:00

  • The effects of stimulus rates on the amplitude of median nerve somatosensory evoked potentials: the developmental change.

    abstract：:We examined the effects of stimulus rates on the somatosensory evoked potential (SEP) amplitudes following median nerve stimulation at the wrist in 42 children. We divided these subjects into five groups according to their age (0-6 months, 7-12 months, 1-3 years, 4-6 years and more than 7 years) and measured the peak-...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(98)00092-8

    authors： Araki A,Takada A,Yasuhara A,Kobayashi Y

    更新日期：1999-03-01 00:00:00

  • Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder.

    abstract：BACKGROUND:The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarit...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2009.06.008

    authors： Sasongko TH,Gunadi,Yusoff S,Atif AB,Fatemeh H,Rani A,Marini M,Ab Aziz CB,Zabidi-Hussin ZA,Nishio H,Zilfalil BA

    更新日期：2010-05-01 00:00:00

  • Apnea associated with hypoxia in preterm infants: impact on cerebral blood volume.

    abstract：:The present study analyzed changes in cerebral blood volume (CBV) during apnea associated with hypoxia compared to apnea without hypoxia. Hypoxia was defined as pulsoxymetric oxygen saturation <80%>10 s. The employed technique was near infrared spectroscopy combined with electrocardiogram, electroocologram, pulsoxymet...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(02)00121-3

    authors： Payer C,Urlesberger B,Pauger M,Müller W

    更新日期：2003-01-01 00:00:00

  • Sleep and EEG features of newborns with 18 and 13 trisomy syndromes.

    abstract：:Serial polygraphic recordings of two to three hours duration were made in five full-term newborns with trisomy 18 and one full-term newborn with trisomy 13 syndrome. The newborns with 18 trisomy syndrome were poor sleepers with long periods of wakefulness and/or drowsiness. There were no consistent abnormalities in th...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(79)80029-7

    authors： Watanabe K,Hara K,Miyazaki S,Iwase K

    更新日期：1979-01-01 00:00:00

  • Effectiveness of lidocaine infusion for status epilepticus in childhood: a retrospective multi-institutional study in Japan.

    abstract：:We evaluated the usefulness of intravenous lidocaine therapy for managing of status epilepticus (SE) during childhood in a retrospective multi-institutional study. Questionnaires were sent to 28 hospitals concerning patients admitted for SE who were managed with lidocaine, assessing patient characteristics, treatment ...

    journal_title：Brain & development

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.braindev.2007.12.016

    authors： Hattori H,Yamano T,Hayashi K,Osawa M,Kondo K,Aihara M,Haginoya K,Hamano S,Izumi T,Kaneko K,Kato I,Matsukura M,Minagawa K,Miura T,Ohtsuka Y,Sugai K,Takahashi T,Yamanouchi H,Yamamoto H,Yoshikawa H

    更新日期：2008-09-01 00:00:00

  • Tau protein concentrations in the cerebrospinal fluid of children with acute disseminated encephalomyelitis.

    abstract：BACKGROUND:Acute disseminated encephalomyelitis (ADEM) is clinically characterized by the acute onset of neurological symptoms after a viral infection or immunization, and is thought to represent an autoimmune disease directed against myelin. Tau protein is a phosphorylated microtubule-associated protein, primarily loc...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2012.11.013

    authors： Oka M,Hasegawa S,Matsushige T,Inoue H,Kajimoto M,Ishikawa N,Isumi H,Ichiyama T

    更新日期：2014-01-01 00:00:00

  • Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A.

    abstract：:Xeroderma pigmentosum (XP), a genetic disorder in DNA nucleotide excision repair, is characterized by skin hypersensitivity to sunlight and progressive neurological impairment. Laryngeal dystonia and vocal cord paralysis are complications that can arise in older XP group A (XPA) patients. We report three patients with...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2009.09.008

    authors： Miyata R,Sasaki T,Hayashi M,Araki S,Shimohira M,Kohyama J

    更新日期：2010-09-01 00:00:00

  • Pubertal trajectory in females with Rett syndrome: a population-based study.

    abstract：BACKGROUND:Rett syndrome is a severe genetic neurodevelopmental disorder mainly affecting females. The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. METHODS:To assess pubertal trajectory we used six waves of data provided by parents of girls and wome...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2012.11.007

    authors： Knight O,Bebbington A,Siafarikas A,Woodhead H,Girdler S,Leonard H

    更新日期：2013-11-01 00:00:00

  • The changes in the topological properties of brain structural network based on diffusion tensor imaging in pediatric epilepsy patients with vagus nerve stimulators: A graph theoretical analysis.

    abstract：PURPOSE:This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. METHODS:Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion te...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2020.07.006

    authors： Zhu J,Xu C,Zhang X,Qiao L,Wang X,Zhang X,Yan X,Ni D,Yu T,Zhang G,Li Y

    更新日期：2021-01-01 00:00:00