ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical features, diagnosis and treatment of glucose transporter 1 deficiency syndrome (GLUT1-DS), as well as the diagnostic value of movement disorders.</p><p><b>METHODS</b>The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed.</p><p><b>RESULTS</b>There were two boys and two girls, with an age of onset of 2-15 months. Clinical manifestations included movement disorders, seizures, and developmental retardation. Seizures were the cause of the first consultation in all cases. The four children all had persistent ataxia, dystonia, and dysarthria; two had persistent tremor, two had paroxysmal limb paralysis, and two had eye movement disorders. Paroxysmal symptoms tended to occur in fatigue state. All four children had reductions in the level of cerebrospinal fluid glucose and its ratio to blood glucose, as well as SLC2A1 gene mutations. The four children were given a ketogenic diet, at a ketogenic ratio of 2:1 to 3:1, and achieved complete remission of paroxysmal symptoms within 5 weeks.</p><p><b>CONCLUSIONS</b>GLUT1-DS should be considered for epileptic children with mental retardation and motor developmental delay complicated by various types of movement disorders. The ketogenic diet is effective at a ketogenic ratio of 2:1 to 3:1 for the treatment of GLUT1-DS.</p>
Subject(s)
Child , Child, Preschool , Female , Humans , Male , Carbohydrate Metabolism, Inborn Errors , Diagnosis , Genetics , Therapeutics , Monosaccharide Transport Proteins , Genetics , Movement Disorders , Diagnosis , Genetics , TherapeuticsABSTRACT
OBJECTIVE@#To explore MEF2A gene and susceptibility to coronary artery disease in the Chinese.@*METHODS@#One hundred seventy-five coronary artery disease (CAD) patients and 228 normal subjects were recruited and their blood samples were amplified to detect sequences of all 11 exons of MEF2A gene by PCR. Single-strand conformational polymorphism (SSCP) analysis was used to detect the mutation. The amplified products were purified and sequenced.@*RESULTS@#The tri-nucleotide (CAG) length polymorphism in the last coding exon of MEF2A in the Chinese was revealed and 4 of the 175 (2.3%) CAD samples containing 4 prolines were due to one proline deletion in MEF2A gene. But all the 228 normal subjects contained 5 prolines. The mutation in both 175 CAD samples and 228 normal subjects was not found in other exons.@*CONCLUSION@#The deletion mutation in exon 11 in MEF2A gene may be related to CAD susceptibility in the Chinese population.
Subject(s)
Female , Humans , Male , Middle Aged , Base Sequence , China , Coronary Artery Disease , Genetics , Exons , Genetics , Gene Deletion , Genetic Predisposition to Disease , Genetics , MEF2 Transcription Factors , Molecular Sequence Data , Mutation , Myogenic Regulatory Factors , Genetics , Polymerase Chain Reaction , Polymorphism, Single-Stranded Conformational , Trinucleotide RepeatsABSTRACT
OBJECTIVE@#To determine the effects of long-term estrogen replacement treatment on blood pressure and expressions of insulin receptor (IR) and insulin receptor substrate-1 ( IRS-1) in myocardium.@*METHODS@#Fifty female SD rats were randomly divided into 3 groups. And then sham ( n = 16), ovariectomy (OVX, n = 17), and estrogen replacement treatment group (OVX + E2, n = 17) were established. Systolic blood pressure of tail artery was determined by tail-cuff technique before the operation and on week 12 after the operation. The expressions of IR and IRS-1 were measured by RT-PCR in myocardium of SD rats.@*RESULTS@#Blood pressure [ (118.75+/-2.77) mmHg] in OVX was significantly higher than that in the sham [ ( 103.86+/-1.84) mmHg, P 0.05 ). The difference of IR expression has no statistical significance among the 3 groups.@*CONCLUSION@#Long-term estrogen replacement treatment might protect cardiovascular system through decreasing the blood pressure and inducing the expression of IRS-1 in myocardium. However, plasma estrogen level doesn't significantly influence the IR expression.