Objective To investigate the clinical features and pathogenic genes of a familial hypokalemic periodic paralysis ( HOKPP).Methods PCR amplification and DNA sequencing were used to screen candidate genes of the HOKPP family members (CACNA1S, SCN4A, KCNE3), and the clinical features were carefully analyzed at the same time.Results The sequencing analyses of the SCN4A gene in the proband identified three nucleotide sequence mutations, which influenced the amino acid sequence of the skeletal sodium channel.One of the mutations was identified as a C/T heterozygous pattern at the 2111th nucleotide position in exon 13, resulting in a change from Thr to Met at the 704th amino acid position of the sodium channel protein.All affected patients carried the Thr704Met mutation, whereas unaffected family members did not.Clinical symptoms in this family followed an autosomal dominant inheritance pattern.Muscles weakness, pain and hypokalemia in the period between attacks were seen in all patients.Paralytic symptoms occurred early, lasted longer and recurred frequently, while cold was the main predisposing factor.With the progress of the disease, patients represented persistent weakness and atrophy in proximal muscles.Conclusions Mutation (Thr704Met) in the SCN4A gene should be responsible for this family.This mutation causes severe HOKPP and progressive muscle atrophy.

Objective To evaluate the diagnostic value of fluorescent quantitative polymerase chain reaction(PCR) for Mycoplasma pneumoniae (MP) in children with MP pneumonia(MPP).Methods From Jun.2008 to Jan.2009,153 cases hospitalized with pneumonia were enrolled,and 30 cases without respiratory infection were enrolled as control group.Their respiratory secretion (including nasopharyngeal secretion,sputum,bronchialalveolar lavage fluid or pharyngeal swab) samples were collected for fluorescent quantitative PCR for MP.And their single or paired serums were collected for specific MP antibody detection.Results There were 123 cases confirmed with MPP by serology,among whom 114 cases were MP PCR positive.The quantitation of MP DNA was among 1.20?106-3.66?1010 gene copys/L. There were 30 cases with pneumonia negative with MP by the paired serum serology,among whom 2 cases were MP PCR positive,and the quantitation of MP DNA was (1.08-3.02)?107gene copys/L.All cases of control group were MP PCR negative.During the first and second weeks of the MPP onset,the sensitivity of MP-IgM from the first single blood samples were 66.7% and 83.9%,respectively.While the sensitivity and specificity of MP PCR were 92.7% and 93.3%,respectively.From the third week of the disease onset,the sensitivity of MP-IgM from the first single blood samples increased to 90.9%-100%.The clinical manifestations of MPP were nonspecific.Conclusions PCR is superior to serology for early diagnosis on MP infection.Combination of the 2 methods may be helpful to early and accurate diagnosis on MP infection.

Objective:To observe the recent effects and toxicity of thermochemotherapy on malignant hydrothorax or hydroperitoneum,to evaluate the changes of the immunological functions,and to investigate the mechanism of thermochemotherapy.Methods:Fifty-two patients were treated with weekly intracavitary chemotherapy,and then combined with local endogenetic thermotherapy twice a week.As the control,another 50 patients received weekly intracavitary chemotherapy.The treatment lasted for two weeks and was followed by one-week rest,and then the recent effects and toxicity were observed.The T cell subset,NK cells and VEGF levels in serum,hydrothorax or hydroperitoneum were tested.Results:Overall response rates of the malignant hydrothorax were 86.9% vs 60.0%(P

Objective:Position emission tomography/computed tomography(PET/CT) is a new bio-imaging system which is combined metabolic with anatomic imaging.This study was to compare the accuracy of conventional staging methods(including computed tomography,ultrasound,magnetic resonance imaging,and detection of bone marrow) with that of PET/CT for lymphoma staging and re-staging. Methods:A total of 42 patients with lymphoma diagnosed by operation or biopsy,received conventional and PET/CT staging.The accuracy of these two methods and their impact on lymphoma staging were compared.Results:The accuracy of PET/CT scan was 95.2%(40/42),and that of conventional staging was 78.6%(33/42).The detection rates of internal lymph node were 97.1%(66/68) and 88.2%(60/68),respectively.The detection rates of outer lymph node were 91.7%(22/24) and 58.3%(14/24),respectively.Compared with conventional staging methods,7 cases were up-staged and 2 cases were down-staged by PET/CT,which led to the change of therapy in 8 cases.Conclusion:PET/CT scan is more sensitive and accurate than conventional staging methods in staging and restaging of lymphoma.

OBJECTIVEImprovement in lung function was reported after acupuncture treatment of chronic obstructive pulmonary disease (COPD), but little is known about the underlying mechanisms. Because an immune response imbalance could be seen in COPD, we hypothesize that electroacupuncture (EA) may play a role in regulating inflammatory cytokines and contribute to lung protection in a rat model of smoke-induced COPD.

METHODSA COPD model using male Sprague-Dawley rats exposed to cigarette smoke was established. The rats were randomly divided into four groups (control, sham, COPD, and COPD plus EA), and COPD model was evaluated by measuring pulmonary pathological changes and lung function. EA was applied to the acupuncture point Zusanli (ST36) for 30 min/d for 14 d in sham and COPD rats. Bronchoalveolar lavage fluid (BALF) was used to measure levels of tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), and malonaldehyde (MDA).

RESULTSCompared with the control rats, COPD rats had significant changes in lung resistance (RL) and lung compliance (CL) (both P<0.01), bronchi and bronchiole airway obstruction (P<0.01), and levels of MDA, TNF-α, and IL-1β (P<0.01). There were no significant differences between the control and the sham groups. Compared with the COPD rats, the COPD plus EA rats had decreased RL and increased CL (both P<0.05), and reduced bronchi and bronchiole airway obstruction (P<0.05, P<0.01, respectively), while levels of TNF-α, IL-1β, and MDA in BALF were lowered (P<0.05 and P<0.01, respectively). However, TNF-α and IL-1β levels of the EA group rats remained higher than those of the control group (P<0.05).

CONCLUSIONEA at ST36 can reduce lung injury in a COPD rat model, and beneficial effects may be related to down-regulation of inflammatory cytokines. The anti-inflammatory and antioxidant effects may prolong the clinical benefit of EA.

Acupuncture Points ; Animals ; Bronchoalveolar Lavage Fluid ; immunology ; Disease Models, Animal ; Electroacupuncture ; Humans ; Interleukin-1beta ; immunology ; Male ; Pulmonary Disease, Chronic Obstructive ; etiology ; immunology ; therapy ; Rats ; Rats, Sprague-Dawley ; Smoking ; adverse effects ; Tumor Necrosis Factor-alpha ; immunology

OBJECTIVETo explore the relationship between risk factors for coronary heart disease (CHD) and coronary artery lesions.

METHODPotential risk factors were studied in 341 patients underwent coronary angiography.

RESULTS(1) Coronary angiography showed coronary artery lesions in 214 patients (lesion group), and no lesion in 127 patients (non-lesion group). There was significant difference in age, past history of diabetes, family history of CHD, smoking history, high-density lipoprotein cholesterol (HDL-C), lower-density lipoprotein cholesterol (LDL-C), ratio of total cholesterol to HDL-C (TC/HDL-C), lipoprotein(a) [Lp(a)], fibrinogen (Fbg) and high-sensitivity C-reactive protein (hs-CRP) between two groups (P < 0.05). (2) There was significant correlation between severity of coronary artery lesions and hs-CRP, Lp(a), TC/HDL-C, Fbg, hyperlipidemia, TC, LDL-C and TG (with coefficients of correlation of 0.338, 0.250, 0.241, 0.207, 0.167, 0.147, 0.140 and 0.139; respectively, P < 0.05). (3) Analysis of receiver operating characteristics (ROC) curve for patients with coronary angiography and risk factors for CHD showed that the areas under ROC curve were 0.810, 0.669, 0.626, 0.625, 0.619 and 0.618 for hs-CRP, TC/HDL-C, Lp(a), Fbg, LDL-C and past history of hyperlipidemia, respectively.

CONCLUSIONSPast history of hyperlipidemia was a predictor for occurrence of CHD. Ratio of TC/HDL-C and blood level of Lp(a) could be used as predictors in screening for high blood lipid, which were much stronger than others. It is suggested that hs-CRP had an excellent predictive value in current coronary inflammatory lesions.

Adult ; Aged ; Aged, 80 and over ; C-Reactive Protein ; metabolism ; Coronary Disease ; etiology ; Female ; Humans ; Hyperlipidemias ; complications ; Male ; Middle Aged ; ROC Curve ; Risk Factors

OBJECTIVETo observe the effect of Uighur medicine gu-jing-mai-si-ha tablet (GJMSHT) for treatment of premature ejaculation (PE) and to explore part of its mechanism.

METHODSThe condition of patients was scored by related questionnaire, and the intravaginal ejaculation latency time (IELT) was observed before and after GJMSHT treatment, with the blood levels of nitric oxide (NO) and prostaglandin F2alpha (PGF2alpha) detected in PE patients as well. The results were compared with those in the control group.

RESULTSAfter treatment, the scores of PE and IELT, as well as the levels of NO and PGF2alpha, all increased significantly compared to those before treatment in the treated group (P<0.01), while in the control group, all the parameters were insignificantly changed (P>0.05). Therefore, the difference of these parameters between the two groups after treatment all showed statistical significance (P<0.01).

CONCLUSIONGJMSHT could treat PE effectively, its mechanism is possibly by strengthening the coordination of the related smooth muscles through increasing the blood levels of NO and PGF2alpha, and the endurance of patients to the cavitary effect of prostatico-urethral pressure, thus postponing the arrival of urgent ejaculatory feeling.

Adult ; Dinoprost ; blood ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Ejaculation ; drug effects ; Female ; Humans ; Male ; Nitric Oxide ; blood ; Sexual Dysfunction, Physiological ; drug therapy ; physiopathology ; Tablets

OBJECTIVETo observe the effects of Naoyikang (NYK) on expression of choline acetyltransferase (ChAT) in brain of rats with Alzheimer' s disease (AD).

METHODBilateral infusions of Ibotenic acid (IBO) into nucleus basalis of Meynert (NBM) using hamilton syringe and stereotaxic apparatus were adopted to establish the rat model of AD. After intragastrically administrated with different solution for 28 days, immunohistochemistry and Western-blot were adopted to study the expression of ChAT in frontal cortex of AD rats.

RESULTNYK could improve the morphology and increase the number of ChAT immunoreactive neurons, and significantly promote ChAT protein expression.

CONCLUSIONNYK may be able to increase the synthesis of acetylcholine (ACh) through elevating the expression of ChAT protein, thus improving the level of brain ACh so as to protect central cholinergic neurons.

Alzheimer Disease ; enzymology ; Animals ; Blotting, Western ; Brain ; drug effects ; enzymology ; Choline O-Acetyltransferase ; metabolism ; Disease Models, Animal ; Drugs, Chinese Herbal ; pharmacology ; Gene Expression Regulation ; drug effects ; Immunohistochemistry ; Male ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo investigate the initial changes in the gut microenvironment that accompany intestinal endotoxemia related to alcoholic fatty liver disease (ALD) in order to explore the potential initiating factors and to observe the effect of probiotic therapy on these factors.

METHODSFifty Sprague-Dawley male rats were randomly divided into an ALD model group (alcoholic intragastric administration), an intervention group (ALD with probiotic intragastric administration), and a control group (physiological saline intragastric administration). Histological changes of the liver were evaluated using hematoxylin-eosin staining and light microscopy. Serum alanine aminotransferase (ALT), aspartate aminotransferase (AST) and triglycerides (TG), and plasma endotoxin and coli bacillus were determined. The structural integrity of intestinal mucosa and tight junctions were observed by transmission electron microscopy. Occludin protein expression in intestinal epithelial cells was detected by immunohistochemistry.

RESULTSAfter four weeks, the three groups showed significant differences in the plasma endotoxin levels [control: (0.67+/-0.14) pg/ml, model: (4.42+/-1.28) pg/ml, and intervention: (2.88+/-0.83) pg/ml; F = 27.288, P = 0.000] and numbers of Escherichia coli [control: (2.31+/-0.39) lg3/ml, model: (3.23+/-0.41) lg3/ml, and intervention: (2.24+/-0.44) lg3/ml; F = 10.692, P = 0.001]. The plasma endotoxin level and E. coli number were significantly higher in the model group than in the control group and the intervention group (all P less than 0.05). The three groups showed no significant differences in the levels of ALT, AST, and TG at four weeks. After eight weeks, however, all three serum markers were significantly different between the three groups [ALT: control: (62.33+/-7.12) U/L, model: (95.50+/-8.73) U/L, and intervention: (81.33+/-6.19) U/L; F = 18.051, P = 0.000]; [AST: control: (90.50+/-10.67) U/L, model: (130.00+/-14.91) U/L, and intervention: (110.33+/-7.26) U/L; F = 30.170, P = 0.000]; [TG: control: (0.84+/-0.84) mmol/L, model: (1.40+/-0.17) mmol/L, and intervention: (1.10+/-0.17) mmol/L; F = 10.592, P = 0.001]. In addition, the three groups showed significant differences in E. coli number [control: (2.23+/-0.46) lg3/ml, model: (4.81+/-0.29) lg3/ml, and intervention: (3.61+/-0.50) lg3/ml; F = 23.579, P = 0.000] and plasma endotoxin level [control: (0.52+/-0.21) pg/ml, model: (12.46+/-2.61) pg/ml, intervention: (6.83+/-1.74) pg/ml; F = 30.731, P = 0.000]. The levels of ALT, AST, TG and endotoxin, and the number of E. coli were all significantly higher in the model group than in the control group and the intervention group (all P less than 0.05). Small intestinal epithelial cell structural failure was more apparent and intercellular gaps more broad after eight weeks than after four weeks for all three groups. However, the intervention group showed clearer cell connection structures and less extensive cell gap broadening than the model group at eight weeks. After eight weeks, the occludin protein had become significantly down-regulated and distributed in a non-continuous pattern in the model group, as compared with the control group. However, the occludin protein expression was higher in intervention group than in the model group.

CONCLUSIONIntestinal endotoxemia related to perturbations in the microenvironment occurs in the early phase of ALD, and the increased intestinal permeability appears to be the initial factor of elevated plasma endotoxin, which may lead to liver damage. Probiotic therapy can reduced plasma endotoxin levels and postpone ALD progression by altering the composition of the gut microbiota and up-regulating expression of the occludin protein in intestinal epithelial cells.

Alanine Transaminase ; blood ; Animals ; Aspartate Aminotransferases ; blood ; Endotoxins ; blood ; Escherichia coli ; isolation & purification ; Fatty Liver, Alcoholic ; microbiology ; therapy ; Intestinal Mucosa ; metabolism ; microbiology ; Intestine, Small ; metabolism ; microbiology ; Male ; Occludin ; metabolism ; Probiotics ; therapeutic use ; Rats ; Rats, Sprague-Dawley ; Triglycerides ; blood

Objective To investigate the relationship between the oxidized low-density lipoprotein(ox-LDL) in the blood from the coronary sinus and impaired endothelium-dependent vasodilation in patients with coronary artery disease(CHD).Methods Four groups of patients were subjected,including acute myocardial infarction group(AMI,n=22),unstable angina group(UA,n=29),and stable angina group(SA, n=25) and control group(n=20) who was first suspected as CHD and then verified with normal coronary angiograms.Blood form the coronary sinus was collected through cardiac cathetering and the ox-LDL level was measured by Sandwich ELISA method.Brachial arterial hyperemia-induced flow mediated dilation(FMD) and sublingual nitroglycerin(NTG) mediated vasodilation were measured by high resolution ultrasound.Results The blood level of ox-LDL in patients with CHD was markedly higher than those in control group(P