Anticonvulsants ; administration & dosage ; therapeutic use ; Drug Prescriptions ; Humans ; Off-Label Use

Objective To explore the role of phosphatidylinositol 3-kinase/protein kinase B(PI3K/AKT) pathway in recombinant human erythropoietin( rhEPO) protecting new type BPD. Methods Injected LPS or PBS to 40 spra-gue-dawley (SD) rats, gestational sacs on 15th day of gestation, the newborn rats were divided into four groups:control group, hyperoxia group, rhEPO group, rhEPO+LY294002 group. To detect the expression of lung tissue BCL-2 and Caspase - 9 protein and mRNA by Western blot and RT-PCR. Results In the hyperoxia group and rhEPO+LY294002 group, BCL-2 expression was decreased,while Caspase-9 expression was increased apparently;in the rhEPO group, BCL-2 expression was increased, while Caspase-9 expression was decreased. The differences between each group were statistically significant on 1st,7th and 14th day of hyperoxia exposure (P<0. 05). Con-clusion Intrauterine inflammatory exposure combined with hyperoxia after birth can cause lung cell apoptosis in-creases. While rhEPO has certain control effects on BPD, possibly by reducing the pulmonary apoptosis. The mechanism may be associated with PI3K/AKT signaling pathway.

The idiopathic generalized epilepsies (IGE) comprise two major groups: the classical IGE and generalized epilepsy with febrile seizures plus (GEFS+). The classical IGE syndromes include childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures alone. GEFS+ is a familial epilepsy syndrome, characterized by a spectrum of phenotypes. The phenotypes of GEFS+ include febrile seizures (FS), febrile seizures plus (FS+), FS/ FS+ and absences, myoclonic, atonic or partial seizures, myoclonic-astatic epilepsy and severe myoclonic epilepsy of infancy. Our study of 121 individuals in 20 families, where 84 had previously recognized GEFS+ phenotypes, expands the phenotypic spectrum of GEFS+ syndrome to include afebrile generalized tonic-clonic seizures with generalized spike wave or normal EEG in the absence of FS. To date, there are three ion channel genes (SCN1A, SCN1B and GABRG2) confi rmed as having a role in GEFS+, but none has been implicated in the majority of patients with GEFS+ phenotypes, such as those found in small families. Indeed it is likely that in most families, GEFS+ is a polygenic disorder resulting from the cumulative effect of a number of genes of lesser effect rather than the genes so far characterized in the few large families ascertained. Small GEFS+ families and bilineal inheritance in some add support for complex inheritance in a signifi cant proportion of families. The phenotypes of classical IGE occur in some GEFS+ families. The percentage of classical IGE phenotypes is 9% (11/121) of affected individuals in our study. This suggests that classical IGE phenotypes and GEFS+ phenotypes overlap in some GEFS+ families. Our study provides new insights into the inter-relationship of GEFS+ and classical IGE, where shared genetic determinants probably account for the overlap of these syndromes in some families.

Epilepsies, Myoclonic ; genetics ; Humans ; Infant ; Infant, Newborn ; Molecular Biology ; NAV1.1 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins ; genetics ; Sodium Channels ; genetics

Objective To compare the results of manually -tested speech recognition threshold (SRT ) with automatically software -recorded SRT in the trial of Mandarin disyllabic test ,exploring the significance to the clini-cal applying .Methods 128 normal people of different ages without hearing loss and 57 workers exposed to noise in an automobile manufacturing was selected .These two group of volunteers speak mainly Mandarin in their daily life . MADSEN Conera (Danmark) clinical audiometr was applied .A group of double syllable word list with the same dif-ficulty of equivalence was used as test material .The initial presentation level was 20 dB HL higher than PTA .Then compared the results of manually -tested SRT with automatically software -recorded SRT .Results In the normal group ,the automatic value SRT was 7 .84 ± 3 .98 dB HL ,the manual value was 9 .19 ± 4 .47 dB HL ,and the average value of speech frequency threshold was 7 .63 ± 5 .78 dB HL .In the noise group ,the automatic value SRT was 6 .10 ± 8 .40 dB HL ,the manual value was 18 .81 ± 9 .52 dB HL ,and the average value of language frequency threshold was 27 .18 ± 19 .13 dB HL .There was significant difference between the values of SRT tested manually and recorded automatically (P<0 .01) .Conclusion There are differences between SRT valued manually and automatically .The SRT in people with normal hearing can be tested using automatic -recorded method .This method is convenient for screening in people without hearing loss .To exam in people with hearing loss ,the manual test is more appropriate .

This paper presented the effects of experimental hyperinsulinemia on the main apolipoproteins (At, B) and on tbe process of reverse cholesterol transport in rabbit, which consisted of 1) uptake of cholesterol from peripheral tissue by HDL; 2) cholesterol esterification and 3) cholesterol ester transfer. The results showed that insulin could significantly decrease both serum and lymph Apo A1 levels and inhibit all the three steps of reverse cholesterol transport. The larger the dose of insulin, the greater the effects. Apo B did not seem to be influenced by insulin. It was further demonstrated by a series of statistical analyses that insulin had both direct and indirect inhibitory actions, to different extent, on each of the three main steps of reverse cholesterol transport.

Epilepsies, Partial ; Humans ; Syndrome

Ataxia ; genetics ; physiopathology ; Calcium Channels ; genetics ; physiology ; Epilepsy ; genetics ; physiopathology ; Genetic Diseases, Inborn ; genetics ; physiopathology ; Humans ; Hypokalemic Periodic Paralysis ; genetics ; physiopathology ; Malignant Hyperthermia ; genetics ; physiopathology ; Migraine with Aura ; genetics ; physiopathology ; Myopathy, Central Core ; genetics ; physiopathology ; Ryanodine ; metabolism ; Spinocerebellar Ataxias ; genetics ; physiopathology

Child ; Female ; Humans ; Muscular Dystrophies ; complications ; congenital ; Spondylitis, Ankylosing ; complications