[Clinical effect of tacrolimus in the treatment of myasthenia gravis in children].

Objective: To evaluate the efficacy and safety of tacrolimus in the treatment of children with myasthenia gravis (MG).

Methods: A total of 28 children with MG were treated with tacrolimus. MG-Activities of Daily Living (MG-ADL) scale was used to assess clinical outcome and safety after 1, 3, 6, 9, and 12 months of treatment.

Acetolactate Synthase-Inhibiting Gametocide Amidosulfuron Causes Chloroplast Destruction, Tissue Autophagy, and Elevation of Ethylene Release in Rapeseed.

Acetolactate synthase (ALS)-inhibiting herbicides amidosulfuron (Hoestar) is an efficient gametocide that can induce male sterility in rapeseed ( L.). We conducted an integrated study of cytological, transcriptomic, and physiological analysis to decipher the gametocidal effect of amidosulfuron.

TGMS in Rapeseed () Resulted in Aberrant Transcriptional Regulation, Asynchronous Microsporocyte Meiosis, Defective Tapetum, and Fused Sexine.

The thermo-sensitive genic male sterility (TGMS) line SP2S is a spontaneous rapeseed mutation with several traits that are favorable for the production of two-line hybrids. To uncover the key cellular events and genetic regulation associated with TGMS expression, a combined study using cytological observation, transcriptome profiling, and gene expression analysis was conducted for SP2S and its near-isogenic line SP2F grown under warm conditions. Asynchronous microsporocyte meiosis and abnormal tapetal plastids and elaioplasts were demonstrated in the anther of SP2S.

Exposure to trace amounts of sulfonylurea herbicide tribenuron-methyl causes male sterility in 17 species or subspecies of cruciferous plants.

Background: For most cruciferous plants, which are known as important crops and a number of weeds, hybrid breeding is hampered by the unavailability of a pollination control system. Male sterility induced by a gametocide can be useful for the utilization of plant heterosis.

Results: The gametocidal effect of sulfonylurea herbicide tribenuron-methyl was tested across seventeen cruciferous species or subspecies including Brassica juncea, B.

[Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].

Objective: To summarize the phenotypes and identify SCN1A mutations in families with generalized epilepsy with febrile seizures plus (GEFS(+)), and analyze the genotype- phenotype correlations in GEFS(+) families.

Method: Genomic DNA was extracted from peripheral blood lymphocytes of the proband and other available members in the GEFS(+) families. The phenotypes of the affected members were analyzed.

[Clinical analysis of four patients with Schwartz-Jampel syndrome].

Objective: To analyze the clinical manifestation, diagnosis and treatment of Schwartz-Jampel syndrome (SJS).

Method: The clinical data, including demographic, laboratory tests (creatase, creatine kinase, etc.) and electromyography of 4 children with SJS were analyzed.

[Follow-up study on the clinical characteristics and treatment effect of the different types of Guillain-Barré syndrome in children].

Objective: To study the clinical characteristics and effects of immunoglobulin treatment in children with the different types of Guillain-Barré syndrome (GBS).

Method: Data of 108 patients hospitalized for GBS were retrospectively analyzed; 75 cases in this group were given acute high dose of gamma globulin (IVIG) 400 mg/(kg·d) intravenously for 5 d. Clinical and electrophysiological data and information on treatment and recovery of the children were collected during the follow-up and were analyzed.

[Clinical manifestation and EEG characteristics of Angelman syndrome].

Objective: To investigate the clinical manifestations and EEG characteristics of Angelman syndrome in children, and to strengthen the recognition of this disease.

Method: Fourteen children with Angelman syndrome received video EEG monitoring, head MRI/CT and gene test, 11 patients received the metabolic investigations (e.g.

[Clinical characteristics and diagnosis of acute pandysautonomia in childhood].

Objective: To summarize the clinical characteristics of acute pandysautonomia in childhood, to gain better understanding of the diagnosis and differential diagnosis.

Methods: The clinical data of 6 children with acute pandysautonomia were analyzed and followed-up. All the 6 patients had routine blood and cerebrospinal fluid (CSF), electrocardiography (ECG), electromyography (EMG), cranial magnetic resonance imaging (MRI) and autonomic nerve function tests (head upright tilt test, dermatography test, and thermal/sympathetic sweat response).

[Clinical and laboratory features of the Menkes disease].

Objective: To study the clinical and laboratory features of the patients with Menkes disease.

Method: Three infants were diagnosed as Menkes disease. Their clinical feature, laboratory findings, radiological manifestation and genes were reviewed.

Diverse origins of aluminum-resistance sources in wheat.

Aluminum (Al) toxicity is a major constraint for wheat production in acidic soils. Wheat producers now routinely use Al-resistant cultivars as one cost-effective means to reduce risks associated with acidic soils. To date, diverse Al-resistant materials have been identified, but their genetic relationship has not been well characterized.

Arterial ischemic stroke: experience in Chinese children.

The aim of this study was to review cases of pediatric arterial ischemic stroke among Chinese subjects and thereby evaluate risk factors, clinical and neuroimaging features, and treatment, to establish a reasonable guideline for assessment and management of the disease. Between 1996 and 2006, 157 children (male:female ratio, 1.4:1) with arterial ischemic stroke were identified at Beijing Children's Hospital.

[Diagnosis of congenital muscular dystrophy and clinical significance of merosin expression].

Objective: The congenital muscular dystrophies (CMD) are a clinically and genetically heterogeneous group of neuromuscular disorders with progressive muscle wasting and weakness that begin during neonatal or early infantile period. To study the clinical diagnosis, immunohistochemical feature and follow-up information of CMD, data of 8 cases with CMD were analyzed.

Methods: Immunohistochemical features of biopsied muscle specimens were summarized and analyzed by using anti-laminin alpha2 (merosin), anti alpha-dystroglycan (alpha-DG) and anti beta-dystroglycan (beta-DG) antibodies.

[The effect of CACNA1H gene G773D mutation on calcium channel function].

Objective: To study the effect of CACNA1H gene mutation G773D on calcium channel function.

Methods: By the overlap extension PCR we introduced G773D mutation into a human Cav3.2acDNA for constructing the mutant.

[Clinical characteristics and diagnosis of neuronal migration disorders].

Objective: Neuronal migration disorders (NMD) are a group of malformations of the brain which ultimately disrupt migrating neuroblasts from the germinal plate to the cerebral cortex, it consists of agyria-pachygyria, polymicrogyria, schizencephaly, hemimegalencephaly and heterotopia. This study aimed to investigate the clinical characteristics and diagnostic methods of NMD.

Methods: The clinical data, cranial imaging and experimental examinations of 37 patients with NMD were analyzed.

[T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy].

Objective: Childhood absence epilepsy (CAE) is one of the most frequently recognized syndromes among the idiopathic generalized epilepsies (IGEs). It is considered to be a hereditary disease. The possible inheritance pattern of CAE is polygenic.

[The discovery of a novel flower color mutation in male sterile rapeseed ( Brassica napus L. )].

The author found a novel yellow-white flower color mutation in the male sterile progenies derived from a commercial Brassica.napus hybrid C022, which was produced by a male sterility line 9012A, whose sterility was controlled by interaction between two pairs recessive genes and a pair of epitatic genes. The mutant was named 991S.

Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy.

Background: Childhood absence epilepsy (CAE) is one of the most frequently recognized syndromes among the idiopathic generalized epilepsies (IGEs). CAE is considered to be a genetic disease, with a possible polygenic inheritance pattern. The genes responsible for CAE have not been identified yet.

[Diagnosis and treatment of methylmalonic acidemia in 14 cases].

Objective: Methylmalonic acidemia (MMA) is one of the most common disorders of congenital organic acid metabolism. This study aimed at exploring the clinical characteristics and treatment of the disease to help improve our understanding of it.

Methods: The clinical data of 14 patients with MMA admitted to our hospital between January 2002 and July 2003 were analyzed and the diagnoses were confirmed by gas chromatography/mass spectrometry (GC/MS).

[Diagnosis of childhood narcolepsy and significance of HLA in its diagnosis].

Objective: Narcolepsy is a lifelong sleep disorder characterized by excessive daytime sleepiness, and features of rapid eye movement (REM) sleep, such as cataplexy, sleep paralysis and hypnagogic hallucinations. The present study aimed to investigate the diagnostic basis of childhood narcolepsy and possible role of HLA Class II alleles in the onset of this disease.

Methods: The clinical data of 40 narcoleptic children were analyzed.

A case-control study on children with Guillain-Barre syndrome in North China.

Objective: To explore the risk factors for Guillain-Barre syndrome.

Methods: Case-control study design was used in 51 cases of Guillain-Barre syndrome, and 51 matched controls. All of the 51 cases in this study had been examined by electrophysiology.

[Association of child absence epilepsy with T-STAR gene].

Objective: To investigate the Association of child absence epilepsy with T-STAR gene.

Methods: PCR was conducted on the DNA of peripheral blood white cells from 48 children with child absence epilepsy (CAE), 47 male and 49 female, aged 2.9 approximately 14, of Han nationality in Northern China and 48 healthy children in the same area to amplify the exons of T-STAR gene The PCR products underwent sequencing to identify the possible mutations.

Evidence for human leukocyte antigen-related susceptibility in idiopathic childhood ischemic stroke.

Stroke in children is a relatively uncommon condition and frequently associated with other diseases like cardiopathies, sickle cell disease and chronic smoking. In contrast to stroke in adults, it is rarely caused by atherosclerosis, hypertension or diabetes mellitus. Childhood stroke of unknown causes is called idiopathic stroke.