Correlation between the M and F wave characteristics and the innervated muscle strength in spinal muscular atrophy.

abstract：:Duchenne muscular dystrophy (DMD) is a recessive X-linked genetic disease caused by a mutation in the dystrophin gene. The new drug NS-065/NCNP-01 utilizing exon-skipping therapy targeting specific deletions has been used in a first-in-human trial for the treatment of DMD. We surveyed 10 pairs of DMD participants and ...

journal_title：Brain & development

authors： Shimizu R,Ohata M,Tachimori H,Kimura E,Harada Y,Takeshita E,Tamaura A,Takeda S,Komaki H

更新日期：2020-04-01 00:00:00

abstract：:The present study was undertaken to clarify how we should assess the necessity of close follow-up in each case, when we first examine an infant with ankle clonus within the first year of life. The neurologic prognoses of 169 infants who had exhibited ankle clonus at least once during the first year of life were review...

journal_title：Brain & development

authors： Futagi Y,Otani K,Goto M

更新日期：1997-01-01 00:00:00

abstract：:A study of epileptic drop attacks (EDA) by simultaneous video-polygraphic recordings was carried out in one epileptic patient with myoclonic astatic seizures (Doose syndrome). EDA was shown to correspond to a burst of generalized bilaterally synchronous spike and wave complexes (GBSSW) at 3 Hz. Absence seizures were a...

journal_title：Brain & development

authors： Oguni H,Imaizumi Y,Uehara T,Oguni M,Fukuyama Y

更新日期：1993-05-01 00:00:00

abstract：:A neurologic and neuropsychologic test battery was administered to a sample of 35 children drawn from all those in a defined geographic area who had been hospitalized for head trauma before age 7 during the years 1970-1976. Examination was performed 3 1/2 to 10 years after injury, at age 6-15. Twelve subjects had been...

journal_title：Brain & development

authors： Costeff H,Abraham E,Brenner T,Horowitz I,Apter N,Sadan N,Najenson T

更新日期：1988-01-01 00:00:00

abstract：:Becker muscular dystrophy (BMD) was diagnosed in a male patient with Klinefelter's syndrome (47, XXY karyotype). The BMD was confirmed by (i) immunohistological methods and Western blotting, showing decreased quantity of dystrophin in muscle biopsy specimen and (ii) molecular genetic analysis which demonstrated a homo...

journal_title：Brain & development

authors： Zeitoun O,Ketelsen UP,Wolff G,Müller CR,Korinthenberg R

更新日期：1997-07-01 00:00:00

abstract：:Both xeroderma pigmentosum group A (XPA) and Cockayne syndrome (CS) are rare autosomal disorders, have a genetic defect in the step of nucleotide repair, and involve various neurological abnormalities caused by progressive neurodegeneration. We performed comprehensive neuropathological analysis of five cases of XPA an...

journal_title：Brain & development

authors： Itoh M,Hayashi M,Shioda K,Minagawa M,Isa F,Tamagawa K,Morimatsu Y,Oda M

更新日期：1999-07-01 00:00:00

abstract：:Communicating hydrocephalus was inadvertently induced in a neonate by bilateral jugular vein catheterization. Removal of one catheter resulted in return to normal ventricular size within 14 days. The complication of hydrocephalus from bilateral jugular vein catheterization can be reversed by prompt removal of one cath...

journal_title：Brain & development

authors： Wu XR,Swaiman KF

更新日期：1982-01-01 00:00:00

abstract：:In a patient with holoprosencephaly, partial seizures had various initial ictal symptoms, and ictal EEGs showed epileptogenic foci in the right and left brain. Partial seizures did not culminate in secondary generalized tonic-clonic convulsions. Characteristic malformed structures contribute to the absence of secondar...

journal_title：Brain & development

authors： Takahashi S,Takahashi Y,Kondo N,Orii T

更新日期：2001-07-01 00:00:00

abstract：OBJECTIVE:Epilepsy with continuous spikes and waves during slow sleep (ECSWS) is associated with cognitive deficits. The underlying mechanism is thought to relate to disturbance of functions of the foci by the persistent epileptic activity. However, the relationship between epileptic foci and cognitive deficits remains...

journal_title：Brain & development

authors： Magara S,Komatsubara T,Hojo M,Kobayashi Y,Yoshino M,Saitoh A,Tohyama J

更新日期：2019-02-01 00:00:00

abstract：:Infarct locations in children with arterial ischemic stroke have primarily been reported to be lobar or in the basal ganglia, and those in patients with Down syndrome (DS) and antiphospholipid syndrome (APS) are typically wide and multiple. No solitary brain stem infarctions have ever been reported in children with DS...

journal_title：Brain & development

authors： Imagi T,Matsushita T,Matsushita M,Yae Y,Yokochi T,Kawano G,Akita Y,Ohbu K,Matsuishi T

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early and effective treatment. In this present study, it is aimed to compare neurological developments of patients in 6-42 months of age with congenital hypothyroidism and healthy...

journal_title：Brain & development

authors： Komur M,Ozen S,Okuyaz C,Makharoblıdze K,Erdogan S

更新日期：2013-05-01 00:00:00

abstract：:Autism spectrum disorders (ASD) are manifest as impairments in social interaction, language and speech development, and the appearance of repetitive behaviors with restricted interests. Motor impairments in individuals with ASD have been categorized as "associated symptoms". The objective of this study was to describe...

journal_title：Brain & development

authors： Ming X,Brimacombe M,Wagner GC

更新日期：2007-10-01 00:00:00

abstract：:Fluorescence in situ hybridization (FISH) of DNA-DNA or DNA-RNA using post-mortem brain samples is one approach to study low-level chromosomal aneuploidy and selective expression of specific genes in the brain of patients with neuropsychiatric diseases. We have performed a pilot molecular-cytogenetic analysis of post-...

journal_title：Brain & development

authors： Yurov YB,Vostrikov VM,Vorsanova SG,Monakhov VV,Iourov IY

更新日期：2001-12-01 00:00:00

abstract：:Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental. ...

journal_title：Brain & development

authors： Gordon CR,Bar-Ziv Y,Frydman M,Zlotogora J,Gadoth N

更新日期：1990-01-01 00:00:00

abstract：:Eighteen female patients are described with the clinical features of Rett syndrome. Fifteen patients fulfill the criteria established by Hagberg et al hereas three represent clinical variants. Detailed biochemical and neurodiagnostic assessment was conducted in all patients. Reduction in cerebrospinal biogenic amine m...

journal_title：Brain & development

authors： Percy AK,Zoghbi HY,Glaze DG

更新日期：1987-01-01 00:00:00

abstract：:Neuroimaging findings are usually normal in children with benign partial epilepsy in infancy. However, we found a transient reduction of water diffusion in the corpus callosum in two patients with probable benign partial epilepsy in infancy. The patients were admitted to our hospital because of seizure clusters. No de...

journal_title：Brain & development

authors： Okumura A,Abe S,Hara S,Aoyagi Y,Shimizu T,Watanabe K

更新日期：2010-08-01 00:00:00

abstract：:Clobazam was added to the previous antiepileptic drug therapy of 90 children suffering from drug resistant epilepsy. Ten patients became seizure free, although four of these later developed tolerance. Thirty-three patients experienced a decrease in seizure frequency, and 24 of these, too, developed tolerance. Forty-fo...

journal_title：Brain & development

authors： Bardy AH,Seppälä T,Salokorpi T,Granström ML,Santavuori P

更新日期：1991-05-01 00:00:00

abstract：:A 2-yr-3-mo-old girl with metachromatic leukodystrophy (MLD) was examined using serial multiple electrophysiological procedures. Sensory nerve conduction velocity was delayed earlier and more severely than motor nerve conduction velocity. Visual evoked potentials (VEPs) showed prolonged latency of wave IV. Auditory br...

journal_title：Brain & development

authors： Takakura H,Nakano C,Kasagi S,Takashima S,Takeshita K

更新日期：1985-01-01 00:00:00

abstract：:Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly ha...

journal_title：Brain & development

authors： Suga K,Goji A,Inoue M,Kawahito M,Taki M,Mori K

更新日期：2017-05-01 00:00:00

abstract：BACKGROUND:ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS:We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknow...

journal_title：Brain & development

authors： Kwong AK,Chu VL,Rodenburg RJT,Smeitink J,Fung CW

更新日期：2019-11-01 00:00:00

abstract：:We evaluated brain lesions in patients with coronary arterial lesions (CAL) as a complication of Kawasaki disease (KD) by magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). Among 47 patients who underwent coronary angiography for the evaluation of CAL due to KD at Kyushu University Hospital fro...

journal_title：Brain & development

authors： Muneuchi J,Kusuhara K,Kanaya Y,Ohno T,Furuno K,Kira R,Mihara F,Hara T

更新日期：2006-01-01 00:00:00

abstract：BACKGROUND:The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. MATERIALS & METHODS:We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years). Their medical records fro...

journal_title：Brain & development

authors： Kurahashi N,Miyake N,Mizuno S,Koshimizu E,Kurahashi H,Yamada K,Natsume J,Aoki Y,Nakamura M,Taniai H,Maki Y,Abe-Hatano C,Matsumoto N,Maruyama K

更新日期：2017-09-01 00:00:00

abstract：:To study the efficacy of adrenocorticotrophic hormone (ACTH) in treating Taiwanese children with West syndrome (WS) and the impact on long-term prognosis, 66 patients with WS (54 symptomatic and 12 cryptogenic) were collected from 1987 to 1998 in a medical center in Taiwan. A total of 53 patients were enrolled in this...

journal_title：Brain & development

authors： Lin HC,Young C,Wang PJ,Lee WT,Shen YZ

更新日期：2006-04-01 00:00:00

abstract：INTRODUCTION:Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described res...

journal_title：Brain & development

authors： Ogasawara M,Ishiyama A,Sugiura A,Segawa K,Nonaka I,Takeshita E,Shimizu-Motohashi Y,Komaki H,Sasaki M

更新日期：2018-04-01 00:00:00

abstract：:Thirty-one epileptic patients, selected from among 900 children with previous febrile convulsions and subsequent epilepsy, were typed for HLA antigens. In 16 of the 31 patients CMV was isolated from the urine shortly after the appearance of spontaneous fits; in the remaining 15 patients the virus was never detected. A...

journal_title：Brain & development

authors： Iannetti P,Morellini M,Raucci U,Cappellacci S

更新日期：1988-01-01 00:00:00

abstract：:The authors report a case of early infantile epileptic encephalopathy (EIEE) associated with hemimegalencephaly. The etiological factors in previously published cases of EIEE are reviewed and attention is focused on the high proportion of cases associated with neuronal migration disorders. We suggest that idiopathic c...

journal_title：Brain & development

authors： Bermejo AM,Martin VL,Arcas J,Perez-Higueras A,Morales C,Pascual-Castroviejo I

更新日期：1992-11-01 00:00:00

abstract：OBJECTIVE:This study was conducted to describe the natural course of tic disorders over a long period of time in Japanese adults patients with Tourette's syndrome (TS) in terms of symptomatology. METHODS:An extensive literature on TS cases was reviewed selectively and 31 TS patients (mean age: 31.4 years; sex: 28 male...

journal_title：Brain & development

authors： Ohta M,Kano Y

更新日期：2003-12-01 00:00:00

abstract：:Infantile myositis, observed in the neonatal period, is rare and may be confused with congenital muscular dystrophy. The patient presented here showed evidence of a myopathy with in utero onset with intrauterine growth retardation and decreased fetal movements. A muscle biopsy demonstrated characteristic perifascicula...

journal_title：Brain & development

authors： Vajsar J,Jay V,Babyn P

更新日期：1996-09-01 00:00:00

abstract：OBJECTIVES:To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. METHODS:A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. RES...

journal_title：Brain & development

authors： Fujii T,Ito Y,Takahashi S,Shimono K,Natsume J,Yanagihara K,Oguni H

更新日期：2016-08-01 00:00:00

abstract：:154 patients with a mean age of 6 years 1 month were followed on valproate monotherapy for a period ranging from 5 to 27 months (mean 22 months). Absence epilepsies, benign myoclonic epilepsies and epilepsies with tonic-clonic seizures on awakening were the best controlled, followed by benign partial epilepsies and in...

journal_title：Brain & development

authors： Dulac O,Steru D,Rey E,Perret A,Arthuis M

更新日期：1986-01-01 00:00:00