Abstract：
:Eight patients who satisfied the following three criteria: 1) autistic behavior, 2) mental retardation and 3) stereotypic hand movements were evaluated. Four patients fulfilled the diagnostic criteria for the Rett syndrome developed by representatives of the International Rett Syndrome Association and the Center for Disease Control, Atlanta, USA. The other four Rett-like patients were atypical in the sense that the manifestations were incomplete or psychomotor development throughout the first 6 months of life was abnormal or the disease was heralded by infantile spasms with transient stereotypic hand movements or the baby was born with congenital microcephaly. All eight patients were girls. No laboratory test result specific for the Rett syndrome or Rett-like syndrome was obtained.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Lin MY,Wang PJ,Lin LH,Shen YZdoi
10.1016/s0387-7604(12)80054-4subject
Has Abstractpub_date
1991-07-01 00:00:00pages
228-31issue
4eissn
0387-7604issn
1872-7131pii
S0387-7604(12)80054-4journal_volume
13pub_type
杂志文章abstract：:We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2-1.1 years) and 10 SMA II patients (age, 1.0-2.8 years) were examined. Patients were compared to age-matched controls for motor and sensory conduction velocity (MCV and SCV) c...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.03.009
更新日期：2013-02-01 00:00:00
abstract：:We report the case of an 11-year-old girl who developed slowly progressive atrophy of the left lower extremity. She suffered from mild dilated cardiomyopathy of unknown cause since 4years of age. When she was 7years old, her family noticed that her left extremity was thinner compared to the right one. Computed tomogra...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.11.005
更新日期：2010-04-01 00:00:00
abstract：:We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35Mb on chromosome 11p1...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.01.003
更新日期：2010-03-01 00:00:00
abstract：OBJECTIVE:To analyze and to discuss whether by paying attention to the many recent advancements in the field of pediatric epilepsy surgery catastrophic childhood epilepsies caused by definitive or suspected structural lesions can be prevented more often these days in comparison to the past. METHODS:Based on data from ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2013.05.003
更新日期：2013-09-01 00:00:00
abstract：:In 48 families in which tuberous sclerosis occurred, extensive examination presented almost the same incidence of sporadic cases as reported in previous studies. Although inspection of the skin and cranial computed tomography seem to be the most sensitive diagnostic tests available, negative results with these methods...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(80)80031-3
更新日期：1980-01-01 00:00:00
abstract：OBJECTIVE:Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurologica...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.12.003
更新日期：2016-06-01 00:00:00
abstract：AIMS:Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive j...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.02.005
更新日期：2014-02-01 00:00:00
abstract：:Brain magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in one patient with merosin-deficient congenital muscular dystrophy (MDCMD) revealed significant metabolite (choline, creatine, N-acetyl aspartate) level reductions, fractional anisotropy (FA) reduction and increased apparent diffusion coef...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.10.004
更新日期：2007-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.03.012
更新日期：2006-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.01.011
更新日期：2017-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00032-6
更新日期：1997-07-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00284-4
更新日期：2001-11-01 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
pub_type： 杂志文章
doi：10.1016/0387-7604(96)00049-6
更新日期：1996-09-01 00:00:00
abstract：:As a treatable cause of CNS dysfunctions in the fetal alcohol syndrome (FAS), low-zinc-status in addition to hypoglycemia has been investigated in experimental rat models. During the premating period female rats of an ethanol group and a control group received 30% ethanol (E) and water (W), respectively. During pregna...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80070-3
更新日期：1982-01-01 00:00:00
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
更新日期：2010-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80328-7
更新日期：1990-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80097-3
更新日期：1986-01-01 00:00:00
abstract：:The aim of this study is to reveal detailed clinical manifestations and an evolution of ictal EEG discharges of convulsions with mild gastroenteritis (CwG). We recorded ictal EEGs of six patients with CwG. Clinical manifestations included loss of responsiveness, motion arrest, cyanosis, lateral eye deviation, and hemi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.06.002
更新日期：2007-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.04.003
更新日期：2019-09-01 00:00:00
abstract：:The British Isles Survey for Rett has registered 1,159 cases over up to 20 years. Indicators of health and severity, recorded at intervals throughout life, are drawn from clinical examinations, reports and postal questionnaires. This study aimed to establish the stability and predictive value of an early severity scor...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.10.007
更新日期：2005-11-01 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
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(99)00033-9
更新日期：1999-07-01 00:00:00
abstract：:Apoptosis is a highly conservative energy demand program for non-inflammatory cell death, which is extremely significant in normal physiology and disease. There are many techniques used for studying apoptosis. MicroRNA (miRNA) is closely related to cell apoptosis, and especially microRNA-31 (miR-31) is involved in apo...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2019.04.010
更新日期：2019-09-01 00:00:00
abstract：:We report three typical cases of Landau-Kleffner syndrome with varied courses. The very frequent discharges in sleep EEGs, often showing the patterns of CSWS (continuous spike-waves during slow-wave sleep), either typical (spike-wave complex occupying over 85% of slow-wave sleep duration) or atypical (spike-waves occu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00168-9
更新日期：1996-05-01 00:00:00
abstract：:Recent advances in modern technologies have enabled us to investigate higher brain functions non-invasively in human subjects. These techniques include topographic analysis of the scalp-recorded electric potentials, recording of the magnetic field generated from the brain, measurement of regional cerebral blood flow c...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(93)90081-i
更新日期：1993-11-01 00:00:00
abstract：:Midazolam is a relatively new anticonvulsive agent in the benzodiazepine group. It has a short onset of duration and is practical for use, providing several alternatives such as intravenous, intramuscular, and intranasal routes. The buccal route could be an alternative choice for seizure control in an emergency settin...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(02)00230-9
更新日期：2003-06-01 00:00:00
abstract：:We report a 9-year-old girl with acute autonomic sensory and motor neuropathy (AASM) associated with human parvovirus B19 (HPV-B19) infection. The patient presented with fever, erythema of the entire body, and abdominal pain with vomiting. The titer of HPV-B19 IgM antibody was significantly elevated. Symptoms such as ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.03.003
更新日期：2011-02-01 00:00:00
abstract：:We report a case involving a 15-year-old boy with MELAS (G13513A mutation) who developed several stroke-like episodes in a short period of time. Intravenous administration of l-arginine during the acute phase of the stroke-like episodes reduced symptoms immediately, and oral supplementation of l-arginine successfully ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.07.013
更新日期：2011-06-01 00:00:00
abstract：OBJECTIVE:Patients with Tourette syndrome (TS) often report characteristic sensory experiences, also called premonitory urges (PUs), which precede tic expression and have high diagnostic relevance. This study investigated the usefulness of a scale developed and validated in children and adolescents-the Premonitory Urge...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.12.010
更新日期：2014-01-01 00:00:00
abstract：BACKGROUND:Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired volunta...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.08.003
更新日期：2019-02-01 00:00:00
abstract：BACKGROUND:Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.07.015
更新日期：2018-02-01 00:00:00
