Perspectives on clinical trials in spinal muscular atrophy.

abstract：:In industrialized nations with widespread immunization programs, Guillain-Barré syndrome is the most common cause of acute paralytic illness in children and adults. The incidence of the disease has been estimated to range from 0.5 to 1.5 in 100,000 in individuals less than 18 years of age. Approximately 15% of childre...

journal_title：Journal of child neurology

authors： Sladky JT

更新日期：2004-03-01 00:00:00

abstract：:The past 10 years' experience with bone marrow transplantation from normal, immunologically compatible donors indicates its possible use in various neurometabolic diseases, particularly in a patient who has not suffered irreparable brain damage. This experience may be a prelude to treatment by somatic gene therapy. Th...

journal_title：Journal of child neurology

authors： Ozand PT,Gascon GG

更新日期：1992-04-01 00:00:00

abstract：:Brain tissue from three patients with a clinical diagnosis of Reye syndrome was compared with tissue from three control patients. All Reye syndrome patients demonstrated cytotoxic cerebral edema, with swelling of astrocyte foot processes, which was not seen in controls. Myelin sheath splitting was seen both in control...

journal_title：Journal of child neurology

authors： Blisard KS,Davis LE

更新日期：1991-01-01 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 pilot case-control study was done to collect data on whether susceptibility to newborn encephalopathy and neonatal seizures is influenced by the degree of maternal-fetal sharing of HLA antigens. Cases included 13 infants with moderate or severe newborn encephalopathy and seven infants with neonatal seizures but no o...

journal_title：Journal of child neurology

authors： Cowan LD,Hudson L,Bobele G,Chancellor I,Baker J

更新日期：1994-04-01 00:00:00

abstract：:Torticollis refers to a twisting of the head and neck caused by a shortened sternocleidomastoid muscle, tipping the head toward the shortened muscle, while rotating the chin in the opposite direction. Torticollis is seen at all ages, from newborns to adults. It can be congenital or postnatally acquired. In this review...

journal_title：Journal of child neurology

authors： Tomczak KK,Rosman NP

更新日期：2013-03-01 00:00:00

abstract：:High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopm...

journal_title：Journal of child neurology

authors： MacLennan AH,Lewis S,Moreno-De-Luca A,Fahey M,Leventer RJ,McIntyre S,Ben-Pazi H,Corbett M,Wang X,Baynam G,Fehlings D,Kurian MA,Zhu C,Himmelmann K,Smithers-Sheedy H,Wilson Y,Ocaña CS,van Eyk C,Badawi N,Wintle RF,Ja

更新日期：2019-07-01 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：:Tuberous sclerosis complex is a disease that affects many organs, including the central nervous system. Nervous system involvement in the form of hamartomas often results in seizures. In this study we wanted to determine the outcome of epilepsy in tuberous sclerosis complex and determine whether interictal electroence...

journal_title：Journal of child neurology

authors： Husain AM,Foley CM,Legido A,Chandler DA,Miles DK,Grover WD

更新日期：2000-02-01 00:00:00

abstract：:The objective of this study was to investigate the incidence of acute flaccid paralysis in the pediatric population of Honduras over an 11-year period, determine what percentage of acute flaccid paralysis was Guillain-Barré syndrome, and identify the epidemiologic features of Guillain-Barré syndrome. There were 546 ch...

journal_title：Journal of child neurology

authors： Molinero MR,Varon D,Holden KR,Sladky JT,Molina IB,Cleaves F

更新日期：2003-11-01 00:00:00

abstract：:Two siblings with familial encephalopathy, calcification of the basal ganglia, and cerebrospinal fluid lymphocytosis, constituting the triad of Aicardi-Goutieres syndrome, are reported. This syndrome resembles congenital intrauterine infections, which must be meticulously excluded. Aicardi-Goutieres syndrome is extrem...

journal_title：Journal of child neurology

authors： Koul R,Chacko A,Joshi S,Sankhla D

更新日期：2001-10-01 00:00:00

abstract：:To study the cognitive profile and scholastic performance of children with parenchymal neurocysticercosis. A total of 500 children with a diagnosis of neurocysticercosis and epilepsy registered in our pediatric neurocysticercosis clinic between January 1996 and December 2002 were enrolled. Patients were evaluated for ...

journal_title：Journal of child neurology

authors： Singhi P,Malhi P,Suthar R,Deo B,Khandelwal NK

更新日期：2018-06-01 00:00:00

abstract：:A 12-year-old boy presented with complaints of seizures since the age of 7 years. Seizure semiology was consistent with origin from the right temporal lobe. Magnetic resonance imaging of the brain revealed a large right temporal and multiple small intracranial cavernomatous hemangiomas. The imaging findings and clinic...

journal_title：Journal of child neurology

authors： Sharma S,Sankhyan N,Gulati S,Kumar A

更新日期：2010-11-01 00:00:00

abstract：:Acute necrotizing encephalopathy is a novel disease entity, proposed by Mizuguchi et al in 1995, that shows a characteristic selective and symmetric involvement of the thalamus, brain stem, and cerebellum. It usually leaves sequelae. The etiology of acute necrotizing encephalopathy is unknown. We describe here six pat...

journal_title：Journal of child neurology

authors： Yoshikawa H,Watanabe T,Abe T,Oda Y

更新日期：1999-04-01 00:00:00

abstract：:A 15-month-old girl demonstrated progressive weakness in all limbs. Magnetic resonance imaging (MRI) on admission revealed (1) diffuse and symmetric cervical cord swelling, (2) diffuse decrease and increase in signal intensity within the affected cord on T1- and T2-weighted images, respectively, (3) preserved anatomic...

journal_title：Journal of child neurology

authors： Yamamoto K,Nakagawa H,Kato S,Abe J,Inoue S,Shibuya H

更新日期：1992-04-01 00:00:00

abstract：:A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory cha...

journal_title：Journal of child neurology

authors： Akman CI,Sue CM,Shanske S,Tanji K,Bonilla E,Ojaimi J,Krishna S,Schubert R,DiMauro S

更新日期：2004-04-01 00:00:00

abstract：:A suppository for rectal administration of carbamazepine has been developed for situations in which it is unsuitable to use the oral route of administration. In an open, controlled, within-patient study, the pharmacokinetics, clinical efficacy, and tolerability of carbamazepine slow-release tablets were compared with ...

journal_title：Journal of child neurology

authors： Arvidsson J,Nilsson HL,Sandstedt P,Steinwall G,Tonnby B,Flesch G

更新日期：1995-03-01 00:00:00

abstract：:Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. The infantile form is severe: the main clinical findings are neurologic signs, associated with hematological signs and bone alterati...

journal_title：Journal of child neurology

authors： Cerbo RM,Cabano R,Lombardi G,Bollani L,Colombo R,Stronati M

更新日期：2010-03-01 00:00:00

abstract：:The purpose of this study was to determine which clinical characteristics correlated with abnormal computed tomographic (CT) scans in epileptic children. Thirty variables were examined. Of these, four variables (presence of inherited or congenital disease, focal motor findings, developmental delay, and early onset of ...

journal_title：Journal of child neurology

authors： Koprowski C,Clancy R

更新日期：1986-04-01 00:00:00

abstract：:A subset of inattentive children have an underlying problem in sustaining wakefulness ("vigilance"). This disorder of vigilance, termed Weinberg's syndrome, is characterized by difficulty in maintaining wakefulness and alertness as evidenced by (among other symptoms) motor restlessness (fidgeting and moving about, yaw...

journal_title：Journal of child neurology

authors： Brumback RA

更新日期：2000-07-01 00:00:00

abstract：:In lieu of traditional training of examiners to identify cerebral palsy on a neurologic examination at age 1 year, we proposed an alternative approach using a multimedia training video and CD-ROM we developed after a two-step validation process. We hypothesized that use of CD-ROM interactive training will lead to reli...

journal_title：Journal of child neurology

authors： Kuban KC,O'Shea M,Allred E,Leviton A,Gilmore H,DuPlessis A,Krishnamoorthy K,Hahn C,Soul J,O'Connor SE,Miller K,Church PT,Keller C,Bream R,Adair R,Miller A,Romano E,Bassan H,Kerkering K,Engelke S,Marshall D,Milow

更新日期：2005-10-01 00:00:00

abstract：:Cavernous haemangiomas, or cavernous malformations, have been reported during pregnancy, most of which have been either supratentorial or spinal lesions. We encountered a 15-year old pregnant patient with a rapidly progressive and haemorrhagic brainstem cavernous haemangioma. The case presented here describes the hist...

journal_title：Journal of child neurology

authors： Ranger AM,Chaudhary N,Avery M,Lownie S

更新日期：2013-10-01 00:00:00

abstract：:We retrospectively analyzed the medical documentation of 194 children infected with Epstein-Barr virus. The diagnosis was based on clinical symptoms and the presence of the viral capsid antigen IgM antibody. Patients with severe neurologic complications also underwent neurologic examination, magnetic resonance imaging...

journal_title：Journal of child neurology

authors： Mazur-Melewska K,Breńska I,Jończyk-Potoczna K,Kemnitz P,Pieczonka-Ruszkowska I,Mania A,Służewski W,Figlerowicz M

更新日期：2016-05-01 00:00:00

abstract：:This article reports the results of a study on the relationship between cord blood levels of erythropoietin and periventricular leukomalacia. Cord blood was obtained from 19 infants with gestational age between 27 and 32 weeks. Cystic periventricular leukomalacia was seen in 4 of them. Erythropoietin levels were not d...

journal_title：Journal of child neurology

authors： Okumura A,Kidokoro H,Kato T,Kubota T,Hayakawa F,Kuno K,Watanabe K

更新日期：2008-02-01 00:00:00

abstract：:Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy. Ocular apraxia is most prominent in the early stage of the disease, by contrast, hypoalbuminemia, hypercholesterolemia, and cogniti...

journal_title：Journal of child neurology

authors： D'Arrigo S,Riva D,Bulgheroni S,Chiapparini L,Castellotti B,Gellera C,Pantaleoni C

更新日期：2008-08-01 00:00:00

abstract：:Mutations in MECP2 gene are the primary cause of Rett syndrome, a neurodevelopmental disorder that primarily affects girls, and affect 90% to 95% patients with classical Rett syndrome. MECP2 mutations, once thought to be lethal in males, now present a broad spectrum of clinical manifestations in males. This article re...

journal_title：Journal of child neurology

authors： Khajuria R,Gupta N,Sapra S,Gulati S,Ghosh M,Kalra V,Kabra M

更新日期：2011-02-01 00:00:00

abstract：:The clinical and laboratory data of four pediatric patients and one adult patient with inverted duplication (inv dup) (15) are reported. The most evident findings were dysmorphic features with frontal bossing; genital abnormalities, such as macropenis or hypospadias; mental retardation; autistic behavior; and seizures...

journal_title：Journal of child neurology

authors： Buoni S,Sorrentino L,Farnetani MA,Pucci L,Fois A

更新日期：2000-06-01 00:00:00

abstract：:We report a divergent ependymal tumor of the posterior fossa (ependymoblastoma/anaplastic ependymoma) observed in an 8-year-old boy. The tumor showed the histological pattern typical of an ependymoblastoma (tubular-papillary fetaloid architecture with stratification of the tumor cells) next to areas in which findings ...

journal_title：Journal of child neurology

authors： Ortiz J,Otero A,Bengoechea O,Gonçalves J,Sousa P,Figols J,Bullón A

更新日期：2008-09-01 00:00:00

abstract：:To investigate the significance of electroencephalogram (EEG) discharges and their treatment, we retrospectively reviewed the charts of 22 children with atypical cognitive development that did not respond to standard educational therapy and demonstrated discharges on EEG. Most children demonstrated no obvious symptoms...

journal_title：Journal of child neurology

authors： Frye RE,Butler I,Strickland D,Castillo E,Papanicolaou A

更新日期：2010-05-01 00:00:00

abstract：:Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosi...

journal_title：Journal of child neurology

authors： Ercan TE,Oztunc F,Celkan T,Bor M,Kizilkilic O,Vural M,Perk Y,Islak C,Tuysuz B

更新日期：2013-01-01 00:00:00