Glycerol kinase deficiency (GKD), a rare X-linked recessive disorder, is classified into two types: isolated and complex. Complex GKD is an Xp21 contiguous gene deletion involving the glycerol kinase locus together with the adrenal hypoplasia congenita (AHC) or Duchenne muscular dystrophy (DMD) loci or both. Its clinical features depend on the involved loci. GKD can be confirmed by an elevated urinary glycerol concentration tested by gas chromatography mass spectrometry (GC/MS). The three cases reported here were all male, presenting symptoms from neonatal period. The predominant clinical profile was characterized by hypoadrenocorticism, glyceroluria and Duchenne muscular dystrophy. After receiving a low fat diet and glucocorticoid replacement, they improved with relieved symptoms of hypoadrenocorticism. But they had significant developmental delays and myasthenia. In the follow-up two of them died of adrenal crisis.
Adrenal Insufficiency ; diagnosis ; Diagnosis, Differential ; Genetic Diseases, X-Linked ; diagnosis ; therapy ; Glycerol ; urine ; Glycerol Kinase ; deficiency ; Humans ; Infant ; Male

To detect the in vitro probe microdialysis recoveries based on an HPLC-DAD method for simultaneous quantification of nine active ingredients (ephedrine, pseudoephedrine, methylephedrine, amygdalin, liquiritin, cinnamyl alcohol, cinnamic acid, cinnamaldehyde and glycyrrhizic acid) in Mahuang decoction, which provides reference for in vivo pharmacokinetic study. The concentrations of nine active ingredients in dialysate were detected by HPLC-DAD, to investigate the effect of flow rates (incremental method and subtraction method) and intraday stability of the probe recoveries and medium concentrations on the recoveries. Nine active ingredients could be well separated in 52 min. At the perfusion rate of 1.0 μL x min(-1), the relative recoveries of ephedrine, pseudoephedrine, methylephedrine, amygdalin, liquiritin, cinnamyl alcohol, cinnamic acid, cinnamaldehyde and glycyrrhizic acid were (50.95 ± 0.82)%, (52.74 ± 1.13)%, (51.29 ± 0.51)%, (32.56 ± 0.84)%, (45.36 ± 0.83)%, (70.94 ± 0.99)%, (69.98 ± 2.30)%, (71.68 ± 0.63)%, and (22.14 ± 0.48)%, respectively. And the probe kept steady in 7 hours. At the same medium concentration, the probe recoveries decreased exponentially with the increase in flow rates. The recoveries of seven ingredients detected by these two methods were similar at certain flow rates, except for amygdalin and cinnamaldehyde. At the same flow rate, the relative recoveries of cinnamyl alcohol, cinnamic acid and cinnamaldehyde changed greatly (9.55%-16.2%) and the others six ingredients had less change (3.27%-5.71%) with the changes in medium concentrations. Microdialysis method could be used to detect the in vitro recoveries of nine ingredients in Mahuang decoction. Reverse dialysis method could be used for the in vivo probe recovery calibration of ephedrine, pseudoephedrine, methylephedrine, liquiritin, cinnamyl alcohol and cinnamic acid at the flow rate of 2.0 μL x min(-1).
Chromatography, High Pressure Liquid ; Drugs, Chinese Herbal ; chemistry ; isolation & purification ; Ephedra sinica ; chemistry ; Microdialysis ; methods ; Molecular Structure

When the glomerular mesangial cells of rats were cultured in vitro at high glucose concentration,the activity of extraeellular signal-regulated kinase(ERK),the expression of transforming growth factor-?_1(TGF-?_1)mRNA and the content of typeⅣcollagen in the supematant were higher than those at normal glucose concentration.These effects were inhibited by fluvastatin.The results showed that the activation of ERK signal transduction pathways appeared to play a role in the onset and progression of diabetic nephropathy. Furthermore,fluvastatin could protect the kidney by inhibiting ERK signal transduction pathway and TGF-?_1 expression.

OBJECTIVETo observe effect and mechanism of n-Butanol lysate of alcohol extracts from Actinidia rufa root (monomer of R6,R8).

METHODTunel, Wright's stain with Giemsa's stain dyeing, and Hoechst 33258-PI double dyeing assay were used to detect the apoptosis of SGC7901 tumor cells treated with R6, R8. The SGC7901 tumor cells were randomly divided into control group and two treatment groups administered 0.05 g x L(-1) R6, R8, respectively, for 72 h). FCM assay was used to detect the apoptosis. Agarose electrophoresis assay was used to detect DNA strand break of tumor cells and reveal anti-tumor action mechanism.

RESULTThe apoptosis percentage of the tumor cell in 24 h, 48 h, 72 h was (17.08 +/- 2.78)% , (29.68 +/- 2.96)%, (52.46 +/- 3.81)%; (14.75 +/- 2.14)%, (27.35 +/- 3.79)%, (45.64 +/- 5.24)%, respectively, for the treatment group, significantly higher than that in the control group (1.94 +/- 1.55)%, (2.78 +/- 1.84)%, (11.8 +/- 2.79)% (P < 0.01) by tunnel assay. Wright's stain with Giemsa's stain dyeing assay, Hoechst 33258-PI and FCM double dyeing assay showed same action. R6 and R8 had the effect of inducing the DNA histogram of tumor cells (P < 0.01).

CONCLUSIONThe anti-tumor mechanisms may be associated with inducing the injury of DNA and stimulating apoptosis.

Actinidia ; chemistry ; Apoptosis ; drug effects ; Cell Line, Tumor ; Drugs, Chinese Herbal ; chemistry ; pharmacology ; Flow Cytometry ; Humans ; Immunohistochemistry ; Plant Roots ; chemistry

OBJECTIVEIn children with congenital heart diseases who have undergone surgical interventions, postoperative arrhythmias frequently complicate the clinical course. "Incisional" atrial tachycardia or flutter is one of the most common forms of postoperative arrhythmias in these patients and can lead to significant morbidity and even mortality. The aim of this study was to investigate how to use antiarrhythmic drugs and the CARTO system to treat these cases.

METHODSThere were 12 patients with "incisional" atrial tachycardia or flutter complicating surgery for congenital heart diseases in this study (3 patients with correction of tetrology of Fallot, 3 with atrial septal defect repair, 2 with ventricular septal defect repair, 1 with switch, 1 with repair of Ebstein's anomaly, 1 with total anomalous pulmonary venous drainage, and 1 with atrial septal closure with the Amplatzer septal occlusion). Patients whose body weight was less than 10 kg or those who did not wish to accept ablation were treated with antiarrhythmic drugs, including digitoxin, propranolol, metoprolol and cordarone. CARTO system was used to map 6 patients whose body weight was more than 10 kg and who agreed with accepting ablation for atrial tachycardia and flutter. Radio-frequency ablation was performed in these 6 cases including two cases of "incisional" atrial tachycardia and 4 of atrial flutter.

RESULTS(1) The antiarrhythmic drug was successful in 6 patients with "incisional" atrial tachycardia. (2) Six patients including 2 children with "incisional" atrial tachycardia and 4 children with atrial flutter were successfully ablated. But one case of "incisional" atrial tachycardia relapsed after 3 months of ablation. This case, however, was successfully ablated again later. No further relapse was observed during the 2 - 24 months of follow-up.

CONCLUSIONAblation of "incisional" atrial tachycardia and flutter is the first choice to treat the patients whose body weight is more than 10 kg and those who agree with accepting ablation by CARTO system. Drug therapy of "incisional" atrial tachycardia and flutter is palliative and it is the only selection to treat the patients whose body weight is less than 10 kg or those who do not wish to accept ablation procedure.

Anti-Arrhythmia Agents ; therapeutic use ; Atrial Flutter ; etiology ; therapy ; Catheter Ablation ; methods ; Heart Defects, Congenital ; complications ; surgery ; Humans ; Infant ; Infant, Newborn ; Postoperative Care ; Tachycardia, Ectopic Atrial ; etiology ; therapy ; Treatment Outcome

To observe the effect and mechanism of Yiqi Tongluo Jiedu capsule aganist cerebral ischemia reperfusion injury, the SD rats were randomly divided into following groups: sham-operated group, model group, the group of low, medium and high dose of Yiqi Tongluo Jiedu capsule, and nimodipine group. Using focal middle cerebral artery embolization (MCAO) model, following items were observed: symptoms of neurological deficit score; infarct volume; activity of SOD, content of MDA and NO, activity of NOS of ischemic brain tissue; Bcl-2 and Bax protein expression; content of IL-1beta, IL-6 and TNFalpha in serum; IL-1beta mRNA expression of ischemic brain tissue. Results showed that Yiqi Tongluo Jiedu capsule could significantly reduce the symptoms of neurological deficits, promote the recovery symptoms of neurological deficits; narrow infarct volume of brain tissue obviously, reduce the percentage of infarct volume; raise activity of SOD, reduce content of MDA and NO, reduce activity of NOS; increase Bcl-2 protein, reduce Bax expression; reduce content of IL-1beta, IL-6 and TNFa in serum; reduce IL-1beta mRNA expression of ischemic brain tissue. Yiqi Tongluo Jiedu capsule has significant protective effects against ischemic brain injury, it has significant anti-apoptotic, antioxidant and anti-inflammatory effects.
Animals ; Brain ; metabolism ; pathology ; Capsules ; Drugs, Chinese Herbal ; administration & dosage ; isolation & purification ; pharmacology ; Infarction, Middle Cerebral Artery ; pathology ; Interleukin-1beta ; blood ; genetics ; Interleukin-6 ; blood ; Male ; Malondialdehyde ; metabolism ; Nitric Oxide ; metabolism ; Nitric Oxide Synthase ; metabolism ; Plants, Medicinal ; chemistry ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; RNA, Messenger ; metabolism ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Reperfusion Injury ; blood ; metabolism ; pathology ; Superoxide Dismutase ; metabolism ; Tumor Necrosis Factor-alpha ; blood ; bcl-2-Associated X Protein ; metabolism

Baculoviridae ; genetics ; metabolism ; Phylogeny ; Viral Proteins ; chemistry ; classification ; genetics ; metabolism

OBJECTIVETo compare the therapeutic effect of Compound Recipe Gengniankang ( GNK) with that of hormone replacement treatment (HRT) on climacteric female rats with osteoporosis, and to investigate the roles of estrogen and estrogen receptors in the mechanism of osteoporosis.

METHODSClimacteric female rats with osteoporosis were chosen and divided into three groups (GNK group, HRT group and control group). Apoptosis of ovarian granulose cells was measured by terminal-deoxynucleotidyl transferase mediated nick end labeling (TUNEL) assay. Serum level of estradiol (E(2)), follicle stimulating hormone (FSH), luteinizing hormone (LH) were determined by the method of radioimmunoassay (RIA). Reverse transcriptase polymerase chain reaction (RT-PCT) technology was used to evaluate the expression of estrogen receptor (ER) in bone. Bone mineral density (BMD) was measured by double energy X-ray absorption (DEXA).

RESULTSIn the climacteric rats, BMD, serum E(2), ER mRNA expression in bone decreased remarkably, and serum FSH, LH and apoptosis of ovarian granulose cells increased obviously. After treating with GNK, all the indexes were reversed except serum E(2). The increase of E(2) was not significant.

CONCLUSIONGNK is effective on climacteric osteoporosis female rats. Its role is performed not by increasing serum E(2) but by enhancing ER in the bone and inhibiting apoptosis of ovarian granulose cells. GNK can deter further exhaustion of ovarian function.

Age Factors ; Animals ; Apoptosis ; Bone Density ; drug effects ; Bone and Bones ; drug effects ; metabolism ; Climacteric ; Drugs, Chinese Herbal ; pharmacology ; Estradiol ; blood ; Female ; Follicle Stimulating Hormone ; blood ; Hormone Replacement Therapy ; Hormones ; blood ; Luteinizing Hormone ; blood ; Osteoporosis ; metabolism ; Ovary ; drug effects ; physiology ; Rats ; Receptors, Estrogen ; biosynthesis

OBJECTIVETo observe effects of electroacupuncture (EA) of low frequency on heroin-seeking behavior and FosB protein expression in relative brain regions so as to explore the mechanism of EA.

METHODSRat model of relapsing into heroin was established with progressive fixed ratio program, and model rats were randomly divided into 3 groups: a "Sanyinjiao" needle-retention control group, a low frequency and weak EA group, and a low frequency and strong EA group. Heroin-seeking behavior was elicited by conditional clue and small dose of heroin; FosB protein expression was investigated with immunohistochemical technique.

RESULTSAfter treatment, the heroin-seeking behavior induced by conditional clue decreased in the needle-retention control group and the weak EA group, and the heroin-seeking behavior induced by small dose of heroin in the weak EA group significantly reduced as compared with the control group, and FosB protein expression in the nucleus accumbens septi, globus pallidus, basolateral amygdaloid nucleus significantly decreased in the weak EA group, and did not significantly change in the strong EA group; the activity induced by heroin increased as compared with those in the control group and the weak EA group.

CONCLUSIONEA of low frequency and low intensity can cure the heroin-seeking behavior, which is correlated with regulating nervous adaptation of nucleus accumbens septi, basolateral amygdaloid nucleus, etc..

Amygdala ; chemistry ; Animals ; Electroacupuncture ; methods ; Globus Pallidus ; chemistry ; Heroin Dependence ; therapy ; Immunohistochemistry ; Male ; Nucleus Accumbens ; chemistry ; Proto-Oncogene Proteins c-fos ; analysis ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo observe the effect of compound gengniankang (GNK) in regulating the endocrine and immune functions in aged female rats.

METHODSAged female rats with osteoporosis were selected as the object for observation and healthy young rats were taken for control. Animals were administered by GNK and nilestriol respectively, through gastric perfusion, for 3 months to observe the therapeutic effect of drug treatment on osteoporosis and the regulatory effect on endocrine and immune function. Bone mineral density (BMD) was measured by double energy X-ray absorption technique, serum levels of estradiol (E2), follicule-stimulating hormone (FSH) and luteinizing hormone (LH) were determined by RIA, T-cell subsets and apoptosis in spleen were detected by flow cytometry.

RESULTSIn aged rats with osteoporosis, the BMD decreased, serum level of E2 lowered, FSH and LH levels raised, splenic CD4+, CD4+/CD8+ significantly decreased and T-cell apoptosis rate significantly elevated. GNK could increase the BMD, lower the FSH and LH levels, but showed no significant effect on E2 level. It could increase the CD4+ and CD4+/CD8+ ratio to nearby the normal range, and reduce the apoptosis of T-cells.

CONCLUSIONGNK has therapeutic effect on osteoporosis in aged rats, and is able to regulate the endocrine and enhance the immune function in organism.

Absorptiometry, Photon ; Aging ; Animals ; Apoptosis ; drug effects ; Bone Density ; drug effects ; Drugs, Chinese Herbal ; pharmacology ; Estradiol ; blood ; Female ; Follicle Stimulating Hormone ; blood ; Luteinizing Hormone ; blood ; Osteoporosis ; blood ; immunology ; Rats ; Rats, Sprague-Dawley ; T-Lymphocyte Subsets ; immunology ; T-Lymphocytes ; pathology