Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

abstract：:To find out why children born extremely preterm are at heightened risk of executive dysfunctions, the authors assessed 716 children who were 10 years old born extremely preterm whose IQ was ≥ 70. A working memory dysfunction (n = 169), an inhibition dysfunction (n = 360), a switching dysfunction (355), and all 3 (exec...

journal_title：Journal of child neurology

authors： Leviton A,Joseph RM,Allred EN,O'Shea TM,Taylor HG,Kuban KKC

更新日期：2018-03-01 00:00:00

abstract：:Outcome measures should include the patient's values and preferences (from the patient's perspective) in addition to performance ratings and physiologic states. Outcome measures can assess relationships between services and interventions and their end results, can clarify which therapies are worth providing and which ...

journal_title：Journal of child neurology

authors： Ronen GM,Rosenbaum MP,Streiner DL

更新日期：2000-12-01 00:00:00

abstract：:Primary hypertension is associated with decreased performance on neurocognitive testing and a blunted cerebrovascular reactivity to hypercapnia. Parents of 14 children with hypertension and prehypertension completed the Behavior Rating Inventory of Executive Functions. Children underwent 24-hour ambulatory blood press...

journal_title：Journal of child neurology

authors： Ostrovskaya MA,Rojas M,Kupferman JC,Lande MB,Paterno K,Brosgol Y,Pavlakis SG

更新日期：2015-04-01 00:00:00

abstract：:The objective of this study was to determine the role of cerebral nitric oxide and its powerful oxidant peroxynitrite following mild birth asphyxia. The cerebrospinal fluid levels of nitric oxide and 3-nitrotyrosine as a marker for peroxynitrite are measured in neonates with mild hypoxic-ischemic encephalopathy. Based...

journal_title：Journal of child neurology

authors： Gücüyener K,Ergenekon E,Demiryürek T,Erbaş D,Oztürk G,Koç E,Atalay Y

更新日期：2002-11-01 00:00:00

abstract：:Multiple etiologies should be considered in the differential diagnosis of immunocompromised patients with non-central nervous system cancer and viral infections who develop mutism. Acute cerebellitis, caused by infections or by neurotoxicity resulting from chemotherapy; paraneoplastic cerebellar degeneration; atypical...

journal_title：Journal of child neurology

authors： Helton K,Patterson AL,Khan RB,Sadighi ZS

更新日期：2017-08-01 00:00:00

abstract：OBJECTIVE:Intravenous immunoglobulin and plasma exchange are proven treatments for Guillain-Barré syndrome. Despite these treatments, the prognosis for severe Guillain-Barré syndrome is still not satisfactory. This article seeks for a logical timing for plasma exchange-intravenous immunoglobulin synergy, which may impr...

journal_title：Journal of child neurology

authors： Kesici S,Tanyıldız M,Yetimakman F,Bayrakci B

更新日期：2019-04-01 00:00:00

abstract：:The Baby Doe rules, a set of federal regulations on the treatment of extremely ill infants, went into effect in 1985. Some scholars have argued that these rules are inappropriate given that they fail to pay attention to the patient's suffering. Instead, researchers suggest that, when dealing with a severely impaired i...

journal_title：Journal of child neurology

authors： Weisleder P

更新日期：2007-06-01 00:00:00

abstract：:A patient who has been declared brain dead is considered to be both legally and clinically dead. However, we report 2 pediatric cases in which the patients demonstrated clinical signs of brain stem function that are not recognized or tested in current Canadian or US guidelines. ...

journal_title：Journal of child neurology

authors： Hansen G,Joffe AR

更新日期：2017-06-01 00:00:00

abstract：:Ethical problems related to intensive care of extremely preterm newborns of < or = 25 weeks' gestational age and at risk of disability have been extensively debated. The Bioethical Committee of the Department of Paediatrics of the University Hospital of Padua organized and started a multidisciplinary group to release ...

journal_title：Journal of child neurology

authors： Verlato G,Gobber D,Drago D,Chiandetti L,Drigo P,Working Group of Intensive Care in the Delivery Room of Extremely Premature Newborns.

更新日期：2004-01-01 00:00:00

abstract：UNLABELLED:This study evaluates whether the literature-reported potential predictors can predict the outcome of multilevel botulinum toxin A injections in children who walk with flexed knees. The associations between 11 different predictors and 2 different outcome measures (the Gross Motor Function Measure and knee ang...

journal_title：Journal of child neurology

authors： Scholtes VA,Dallmeijer AJ,Becher JG

更新日期：2008-06-01 00:00:00

abstract：:To determine the yield of neuroimaging in children presenting to the emergency department with acute ataxia in the post-varicella vaccine era, we conducted a cross-sectional study between 1995 and 2013 at a single pediatric tertiary care center. We included children aged 1-18 years evaluated for acute ataxia of <7 day...

journal_title：Journal of child neurology

authors： Rudloe T,Prabhu SP,Gorman MP,Nigrovic LE,Harper MB,Landschaft A,Kimia AA

更新日期：2015-09-01 00:00:00

abstract：:The sphenoid sinus is often referred to as the "neglected sinus." Isolated sphenoid sinusitis is a rare disease with potentially devastating complications. It occurs at an incidence of about 2.7% of all sinus infections. Although headache is the most common presenting symptom, there is no typical headache pattern. Thr...

journal_title：Journal of child neurology

authors： Ng YT,Butler IJ

更新日期：2001-12-01 00:00:00

abstract：:Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the "A-not-B" and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. Howeve...

journal_title：Journal of child neurology

authors： Hogan AM,Telfer PT,Kirkham FJ,de Haan M

更新日期：2013-10-01 00:00:00

abstract：:We describe a case of pathologically confirmed Alexander's disease in which serial cranial ultrasound studies demonstrated unique findings of enlarging subependymal cysts with evolving periventricular hyperechogenicity. Computed tomographic scan of the head showed low attenuation of the periventricular white matter an...

journal_title：Journal of child neurology

authors： Hess DC,Fischer AQ,Yaghmai F,Figueroa R,Akamatsu Y

更新日期：1990-07-01 00:00:00

abstract：:The efficacy of modafinil in comparison with methylphenidate in treatment of pediatric attention-deficit hyperactivity disorder (ADHD) has not been thoroughly investigated. This study compared the effect of modafinil versus methylphenidate on continuous attention task in children with ADHD, using the Test of Variables...

journal_title：Journal of child neurology

authors： Goez HR,Scott O,Nevo N,Bennett-Back O,Zelnik N

更新日期：2012-12-01 00:00:00

abstract：:A 10-year-old boy with tuberous sclerosis complex and macrodactyly of the right index and middle fingers is described. He also had a fibrous hamartoma at the front of the right wrist. The association of fibrous hamartoma and macrodactyly has not been previously described in tuberous sclerosis complex. ...

journal_title：Journal of child neurology

authors： Sharma S,Sankhyan N,Gulati S,Kumar A,Srinivas M,Shukla B,Mathur SR

更新日期：2011-01-01 00:00:00

abstract：:Assessment of upper limb function, kinematic analysis, and dystonia in patients with spastic diplegia cerebral palsy and periventricular leukomalacia. Seven children with spastic diplegia cerebral palsy and 8 controls underwent upper limb kinematics. Movement duration, average and maximum linear velocity, index of cur...

journal_title：Journal of child neurology

authors： Pons R,Vanezis A,Skouteli H,Papavasiliou A,Tziomaki M,Syrengelas D,Darras N

更新日期：2017-10-01 00:00:00

abstract：:Cerebral venous sinus compression can mimic idiopathic intracranial hypertension. The authors report the case of a 12-year-old girl who presented with diplopia and papilledema 3 weeks after a head injury. Lumbar puncture confirmed raised intracranial pressure, and neuroimaging subsequently identified a skull fracture ...

journal_title：Journal of child neurology

authors： Dabscheck G,Mackay M,Coleman L,Lo P

更新日期：2007-03-01 00:00:00

abstract：:At present, both migraine and tension-type headaches in children are believed to be chronic primary headaches. Meningeal signs in both cases are ignored or not examined, and the neurologic status is considered normal. This is the first study that focuses on meningeal signs in children with chronic headaches. The study...

journal_title：Journal of child neurology

authors： Almazov I,Brand N

更新日期：2006-05-01 00:00:00

abstract：:We previously reported that patients with spinal muscular atrophy do not lose muscle strength over time as measured quantitatively. However, we noted that many patients with spinal muscular atrophy suffer from what they call fatigue. We wondered if we could measure fatigue during a single maximal voluntary contraction...

journal_title：Journal of child neurology

authors： Iannaccone ST,White M,Browne R,Russman B,Buncher R,Samaha FJ

更新日期：1997-08-01 00:00:00

abstract：:The aim of this study was to investigate the alteration of the gait pattern in 25 children with Duchenne muscular dystrophy, using body-worn inertial sensors during a long walking distance. Normalized spatiotemporal gait parameters and their variability were extracted from the angular velocity of the shanks; the smoot...

journal_title：Journal of child neurology

authors： Ganea R,Jeannet PY,Paraschiv-Ionescu A,Goemans NM,Piot C,Van den Hauwe M,Aminian K

更新日期：2012-01-01 00:00:00

abstract：BACKGROUND:Moyamoya disease is a rare cerebrovascular disease characterized by progressive stenosis of the bilateral distal internal carotid arteries and their proximal branches. Both chorea and dystonia have been reported as the initial presentation of moyamoya disease. OBJECTIVE:The objective was to define the clini...

journal_title：Journal of child neurology

authors： Greene S,Bansal L,Coffman KA,Nardone R,Zuccoli G

更新日期：2016-04-01 00:00:00

abstract：:In this study the authors investigated whether dysregulation of the fragile X mental retardation protein and mammalian target of rapamycin signaling cascade can have a role in the pathogenesis of encephalopathy of prematurity following perinatal hypoxia-ischemia. The authors examined the brain tissue of newborns with ...

journal_title：Journal of child neurology

authors： Lechpammer M,Wintermark P,Merry KM,Jackson MC,Jantzie LL,Jensen FE

更新日期：2016-03-01 00:00:00

abstract：:Thromboembolic events during the perinatal period are responsible for irreversible brain damage owing to cerebral hypoxia and neuronal necrosis. We investigated the presence of thrombophilia risk factors in children with congenital neurologic disorders. Nineteen children (9 males and 10 females), aged 1 to 14 years (m...

journal_title：Journal of child neurology

authors： Tzoufi M,Giotopoulou S,Papadimitriou P,Dokou E,Kolaitis NI,Siamopoulou A,Vartholomatos G

更新日期：2005-06-01 00:00:00

abstract：:Gelastic seizures are characterized by inappropriate, stereotyped laughter and are often first recognized when other epileptic manifestations occur. They are frequently associated with hypothalamic hamartomas. Central nervous system developmental abnormalities are rarely reported with gelastic seizures. There is only ...

journal_title：Journal of child neurology

authors： Akman CI,Schubert R,Duran M,Loh J

更新日期：2002-02-01 00:00:00

abstract：:Idiopathic photosensitive occipital lobe epilepsy is a reflex, age- and localization-related syndrome. We describe the clinical and electroencephalographic features, therapy, and outcome of 16 children/adolescents with this syndrome. The cohort included 2 sets of siblings and 7 patients with other first- or second-deg...

journal_title：Journal of child neurology

authors： Politi-Elishkevich K,Kivity S,Shuper A,Levine H,Goldberg-Stern H

更新日期：2014-03-01 00:00:00

abstract：:Isolated paraventricular frontal horn cysts are sometimes encountered on cranial ultrasound examinations of preterm neonates. The etiology and clinical significance of these lesions are unclear. The authors aimed to identify antenatal/intrapartum risk factors associated with the occurrence of these cysts and to assess...

journal_title：Journal of child neurology

authors： Trawber R,Rao S,Srinivasjois R,Thonell S,Nagarajan L,French N,Jacoby P,McMichael J

更新日期：2010-11-01 00:00:00

abstract：:The ketogenic diet has traditionally been considered an anticonvulsant therapy of last resort, despite excellent efficacy and limited side effects. We hypothesized that the ketogenic diet would have similar results in patients with new-onset epilepsy. A retrospective study was conducted of patients started on the keto...

journal_title：Journal of child neurology

authors： Rubenstein JE,Kossoff EH,Pyzik PL,Vining EP,McGrogan JR,Freeman JM

更新日期：2005-01-01 00:00:00

abstract：:Glucose transporter 1 facilitates glucose transport across the blood-brain barrier. By increasing histone acetylation at the SLC2A1 promotor, valproic acid could increase SLC2A1 gene expression. This study was designed to evaluate the effects of valproic acid on glucose transport in astrocyte cultures derived from SLC...

journal_title：Journal of child neurology

authors： Kim SK,Yang H,Pascual JM,De Vivo DC

更新日期：2013-01-01 00:00:00

abstract：:Nonconvulsive status epilepticus may present with several manifestations, and many of them may not be obvious. The most important for the diagnosis of nonconvulsive status epilepticus is the electroencephalogram pattern. This is a case report of a 9-year-old boy with severe and continuous headache. He received chemoth...

journal_title：Journal of child neurology

authors： Ghofrani M,Mahvelati F,Tonekaboni H

更新日期：2007-05-01 00:00:00