ABSTRACT
OBJECTIVE To screen for mutations in a Chinese pedigree affected with hypokalemic periodic paralysis. METHODS The proband and nine family members were enrolled for the analysis of CACNA1S and SCN4A gene mutations. Genomic DNA was extracted from peripheral blood samples. The coding regions of the two genes were amplified with PCR and subjected to Sanger sequencing. Potential impact of suspected mutations was predicted with Bioinformatics software. The mutations were also verified among 100 healthy controls. RESULTS The proband and 5 family members (including 5 males and 1 female) had presented with episodes of flaccid paralysis accompanied by low serum potassium. Genetic testing has identified a c.664C>T (p.Arg222Trp) mutation in the proband, which has been reported previously. The same mutation was identified in other 5 affected members from the family. No mutation of the CACNA1S gene was detected. CONCLUSION The c.664C>T mutation of the SCN4A gene probably underlies the hypokalemic periodic paralysis in this family. All patients from the family have shown a complete penetrance of the disease.
ABSTRACT
Background Myopia is one of the main blinding diseases worldwide.At present,a lot of studies on ocular structure focus on the changes of corneal curvature(CC),central corneal thickness (CCT),anterior chamber depth (ACD),ocular axial length (AL) and choroid and retina,but the research of anterior chamber angle section structure form and ciliary body shape is lack.Objective This study was to measure and analyze the changes of the anterior chamber angle and related tissue structure in myopic eyes.Methods One hundred and forty-nine eyes of 149 subjects were included from May 2008 to May 2010 in Eighth Hospital of Qingdao City with the ages of 18-40years old under the informed consent.The subjects were assigned to the emmetropia group (30 eyes) ([0.02±0.18] D),low myopia group(46 eyes) ([-1.64±0.69] D),moderate myopia group (35 eyes) ([-4.56±0.66] D) and high myopia group (38 eyes) ([-7.04 ± 1.02] D).Conventional indexes including intraocular pressure (IOP),CCT,CC,AL and ACD were measured,and the indexes including chamber angel open distance (AOD),iris thickness (IT1,IT2,IT3),the position of ciliary body such as A-angel,B-angel,trabecular ciliary process distance (TCPD),irisciliary process distance (ICPD) and ciliary body thickness (CBT1,CBT2,CBT3) were measured by ultrasound biomicroscope(UBM).Results The IOP,CC and CCT values showed slight change in different groups without remarkable difference among them (all at P＞0.05).As the increase of myopic degree,AL was extended and ACD was deepened,showing significant differences among the groups (both at P＜0.05).There were no significant differences in IT1,IT2 and IT3 among the four groups (all at P＞0.05).However,the measuring values of angle opening degree (TIA and AOD500),ciliary position (A-angle,B-angle,TCPD,ICPD) and CBT (CBT1,CBT2,CBT3) elevated with the increase of myopic degree (all at P＜0.05).Positive correlations were found between AOD500 and ACD,A-angle,CBT1,CBT2,AL,negative correlations was found between AOD500 and myopic degree (r =0.573,0.513,0.325,0.398,0.542,-0.435,all at P＜0.01);Positive correlations were found between TIA and ACD,A-angle,CBT1,CBT2,AL,negative correlations was found between AOD500 and myopic degree (r =0.573,0.464,0.276,0.410,0.539,-0.435,all at P ＜ 0.01).Conclusions Within certain limits,as the increase of myopic degree,ACD deepens,the anterior chamber angle widens,ciliary process thickens and ciliary body backward shifts.
ABSTRACT
Objective To explore the correlation between the level of serum uric acid and metabolic syndrome and associated factors including overweight,abnormality of blood glucose,blood lipid,and hypertension.Methods 654 cases of complete medical records,aging from 30-90with median age of 65 ,were completed were selected,Data base was established by using Excell software,meanwhile,single factor analysis and stepwise regression analysis were performed using SPSS 11.0 software package.Results The levels of serum uric acid of patients with overweight,high fasting blood glucose (FBG),hypertriglyceride (TG),high-density lipid cholesterol (HDL-C)and essential hypertension (EH)were higher than that of patients without overweight,normal fasting blood glucose,normal triglyceride,low high-density lipid cholesterol and without hypertension,respectively [respectively,(270.52 ±81.63 )μmol/L vs.(226.61 ± 67.42)μmol/L,t=-7.387,P=0.000;(265.71±73.50)μmol/Lvs.(235.03 ±75.00)μmol/L,t=-4.459,P=0.000;(262.80 ±74.45 )μmol/L vs.( 235.82±75.04)μmol/L,t=-3.927,P=0.000;(243.97 ±76.33)μmol/L vs.(212.78±57.60)μmol/L,t=-2.412,P=0.016;(282.87±64.79)μmol/L vs.( 180.22±41.60)μmol/L,t=22.59,P=0.000 ].The patients with metabolic syndrome (n=107)and the patients without metabolic syndrome (n=547)were included in our study.The level of serum uric acid of patients with metabolic syndrome was higher than that of patients without metabolic syndrome [(301.22±68.55 )μmol/L vs.(230.72±71.63)μmol/L,t=9.376,P=0.000].Stepwise regression analysis showed that there was positive correlation between systolic blood pressure (SBP),diastolic blood pressure (DBP),the body mass index (BMI),triglyceride (TG),high-density lipid cholesterol (HDL-C),fasting blood glucose (FBG)and the level of serum uric acid,respectively (t=3.409,13.401,6.979,2.943,3.514,4.706 respectively;P=0.000,0.001,0.000,0.003,0.000,0.000 respectively).Conclusion The level of serum uric acid in patients with metabolic syndrome is higher than those without metabolic syndrome.There is positive correlation between the level of serum uric acid and associated factors of metabolic syndrome including overweight,abnormality of blood glucose and blood lipid,and hypertension.