Aged ; Animals ; China ; epidemiology ; Disease Outbreaks ; Female ; Humans ; Male ; Middle Aged ; Orientia tsutsugamushi ; Scrub Typhus ; epidemiology

Objective To explore the molecular basis of familial hypercholesteraemia(FH)by analyzing the phenotype and genotype relationship through identify the low density liporotein receptor(LDL-r)gene mutation in a FH kindred.Methods A male patient of 15 years old was selected to examine the electrocardiogram,lipid.Color Doppler was used to examine heart and great vessels.The promoter region and the 18 exons of the LDL-r gene were screened by touch-down polymerase chain reaction(PCR)and DNA sequencing.Results The caro-tid intima-media thickness(IMT)was increased to 0.23 cm,while coronary flow velocity reserve(CFVR)was decreased to 1.57,and mode-rate mitral regurgitation was found in the proband.The genetic alteration G→A change at 1 448 of exon 10 causing premature stop codon(W462X).The same heterozygous nonsense mutation was also found in his father.The mutation had been reported in other Chinese patients.In vitro experiments showed that W462X mutation leads to low LDL binding and internalization ability.Conclusions The homozygous mutation(W462X)in exon 10 of the LDL-r gene were identified in the clinically heterozygous FH proband.The W462X mutation is the underl-ying cause of hypercholesterolaemia and clinical AS manifestations.W462X is recurrent mutation among Chinese FH patients.It might be a hot spot mutation in LDL-r in Chinese FH.J Appl Clin Pediatr,2009,24(1):18-20

Objective To investigate iodine deficiency disorders(IDD) in Chongqing and Linzhi, and to provide scientific basis for IDD control and prevention. Methods According to the national program developed in 2007, investigation was conducted in Chengkou and Wuxi county in Chongqing municipality, and Linzhi, Bomi,Milin and Langxian county in Linzhi prefecture. Five towns were sampled in Linzhi county, and 3 in other counties.In each town, one township primary school and two village primary schools were selected to inspect thyroid by B ultrasound and palpation, and urinary iodine of children aged 8 to 10 years was tested in these schools. Meanwhile,2 villages were selected in each town for test of salt iodine level and urinary iodine of childbearing age women and search cretin cases. Results Three hundred and forty families in Chongqing and 915 families in Linzhi were investigated. The coverage of iodized salt in Chongqing was 98.82%(336/340), which was significantly higher than that in Linzhi[66.34%(607/905), x2 = 139.56, P ＜ 0.01]. Goiter rate of children in Chongqing was 9.27%(89/960) by palpation and 8.34% (61/731) by B ultrasound, while goiter rate of children in Linzhi was 7.80%(102/1308) by palpation and 5.53% (69/1248) by B ultrasound. The difference of goiter rate by palpation between Chongqing and Linzhi was not statistically significant (x2 = 1.37, P ＞ 0.05 ). But goiter rate of children by B ultrasound in Chongqing was higher than that in Linzhi (x2= 5.51, P ＜ 0.05). In Chongqing, the median urinary iodine was 319.15 μg/L, and 345.75 μg/L in Chengkou county and 281.39 μg/L in Wuxi county. In Linzhi prefecture, the median urinary iodine was 189.81 μg/L, and 207.81 μg/L in Linzhi county, 161.12 μg/L in Bomi county, 131.83 μg/L in Milin county and 334.60 μg/L in Langxian county. The median urinary iodine in childbearing women were 248.42 μg/L in Chongqing and 121.25 μg/L in Linzhi. The median urinary iodine in Chongqing both in children and women were higher than those in Linzhi. No new cretin case was found in these two areas. Conclusions Goiter rate in high risk areas of IDD in Chongqing and Linzhi has decreased to less than 10%.No new cretin case is found in these areas. It can be concluded that the work of control and prevention is effective.There is excess iodine in Chongqing. In Linzhi county and Langxian county, iodine is excess in children and deficient in women. Further investigation should be conducted to find out the reason. Population iodine is excess in Bomi and Milin counties. The concentration of salt iodine should be decreased in Chongqing. In Linzhi prefecture,adding iodine measures should be adjusted based on further investigation.

Objective To understand the prevalence and risk factors of agricultural activities related injuries among rural residents in Shandong province. Methods A retrospective investigation was conducted among agricultural profession-related workers in 20 villages with multistage cluster sampling method in Shandong province. Four times face-to-face interview were conducted by trained interviewers, including 32 students and local medical personnel under constructed questionnaires.Accidental injuries occurred in the activities or in the agricultural profession-related jobs were recorded, from May 1st 2009 to April 30st 2010. Data was input and analyzed by SPSS 13.0 statistical software. Results A total of 837 cases reported at least 1 job-related injury out of the 11 902 people who had been surveyed in one year. The crude incidence rate was 7.03% and the standardized incidence rate was 7.36%, higher in males (9.01%) than in females (4.10%), X2= 105.53, P=0.000.Children and adolescents (≤ 14 aged) had the higher incidence rate (9.50%), X2=9.70, P=0.008.People working in the area of commercial service related to agricultural products had the highest incidence rate (12.94%). In particular, those occupations that related to agricultural construction or materials appeared to have had higher incidence rates as 16.80% and 15.59% respectively, than other kinds of jobs (X2= 167.30, P=0.000). There were higher proportion of injuries occurred in the roads (28.79%), in the fields(28.08%) during labor work(38.00%) transportation(27.97%), respectively.The seasonality of agricultural injures mostly occurred between June and August, accounted for 47.43%. Major external causes related to injuries were instruments or tools (31.42%) being used,transportation (24.13%) and falls (20.19%). Wounds on limbs took the majority (56.39%). The accidental self-inflicted injury occupied 76.82%, while accidents to passive injuries occupied 11.47%,other kinds accounted for 11.71%. Most of the accidents caused mild or moderate damage, accounted for 60.22% and 30.34% respectively. 7 cases died of injuries, with the fatality rate as 0.84% and the mortality rate was 58.81 per one hundred thousand. 72 cases ended up in disability caused by injuries,with the morbidity rate as 6.05 per thousand. Answers to the major internal causes of injuries appeared to be: "did not know how to protect oneself" (29.87%) with females (45.41%) in particular,followed by "over fatigue" and "inappropriate treatment" which took the 2nd place in males. Major natural environmental factors of injuries would relate to "high air temperature and humidity but lower wind velocity"(14.93%), "unclear signs on the country road"(12.19%), "the sky was cloudy or dark"(10.87%), "slippery road caused by rain or snow" (10.51%), "kids were unintended" (10.27%) etc.Most of the wounded received treatment clinically (50.18%), with the percentile (P50) of medical cost as 182.76 RMB (Yuan). The proportion of inpatient was 27.72% and with percentile of time as P50=7.57 day and cost as P50=2840.00 RMB Yuan. The wounded had a rest of P50=5.9 days, with an indirect cost as P50=233.16 RMB Yuan. Conclusion The results of this study indicated that the incidence of agricultural profession-related injuries was high, with serious harm. Behavioral intervention and awareness of injuries should be enhanced, together with the improvement of environmental condition.

OBJECTIVE: To review the management of NUSS procedure by video-assisted thoracoscopy for the correction of pectus excavatum in 18 patients, and to prevent and treat some complications. METHODS: Eighteen patients with severe pectus excavatum underwent NUSS procedure by video-assisted thoracoscopy from December 2006 to September 2007. RESULTS: The operation time ranged from 30 to 70 min ( average 45 min). Good Results were achieved for all patients after the operation. All of them recovered and were discharged 5 approximately 7 days after the operation. Minor complications occurred in 2 patients. CONCLUSION NUSS procedure is microinvasive and has beautiful outlook with shorter operation time and simple handling.The minimally invasive technique has a low complication rate with satisfactory short-term result. Proper management is important for the recovery at the early postoperative stage.
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Funnel Chest ; surgery ; Humans ; Male ; Minimally Invasive Surgical Procedures ; instrumentation ; methods ; Thoracic Surgery, Video-Assisted ; methods ; Thoracic Surgical Procedures ; methods ; Thoracoscopy ; methods

OBJECTIVETo evaluate the feasibility and practicality of laparoscopic hepatectomy for hepatic hemangioma.

METHODSCandidate for laparoscopic liver resection were 18 cases of hepatic hemangioma from January 2002 to October 2006. The portal bloods stream was blocked by the laparoscope portal blood blocker. The Electric-cautery and ultracision were used for liver transection. Operative procedures included anatomical left hepatectomy in 2 cases, non-anatomical left hepatectomy 1 case, left lobectomy 5 cases, local liver resection 10 cases. Two cases of hepatic hemangioma associated with gallbladder stone were performed cholecystectomy synchronously, 1 case associated with chronic appendicitis were performed appendectomy synchronously.

RESULTSLaparoscopic left liver resection was successfully performed in all 18 cases. The operative duration was (185.4 +/- 55.7) min. The quantity of blood lost during the operation was (416.2 +/- 128.8) ml. The postoperative recovery was smooth and good. No critical complications occurred. The duration for hospitalization was (6.2 +/- 1.0) d.

CONCLUSIONLaparoscope hepatectomy for hepatic hemangioma is safe and feasible.

Adult ; Feasibility Studies ; Female ; Hemangioma ; surgery ; Hepatectomy ; methods ; Humans ; Laparoscopy ; Liver Neoplasms ; surgery ; Male ; Middle Aged ; Treatment Outcome

Objective:To explore the potential causal relationship between gut microbiota and teratozoospermia.Methods:We searched the database of Genome-Wide Association Study(GWAS)for gut microbiota-and teratozoospermia-related data.We used gut microbiota as an exposure factor,determined the instrumental variables according to the GWAS data on 18 340 participants released by the MiBioGen Alliance,and derived the outcome variables from the European data on teratozoospermia,with a sample size of 85 716,including 915 cases and 209 006 controls.Using inverse-variance weighting(IVW),MR-Egger regression and the weighted median estimator(WME),we performed two-sample Mendelian randomization(MR)analysis on the retrieved data,and estimated the causal relationship between gut microbiota and teratozoospermia based on the β value.Results:Two-sample MR analysis indicated that the class Erysipelotrichia,family Erysipelotrichaceae,family Streptococcaceae,genus Coprococcusl,genus Ruminococcaceae UCG009,genus Streptococcus,order Clostridialesm and order Erysipelotrichales were causally related with the increased risk,while the family Porphyromonadaceae with the decreased risk of teratozoospermia.Conclusion:The class Erysipelotrichia,family Erysipe-lotrichaceae,family Streptococcaceae,genus Coprococcusl,genus Ruminococcaceae UCG009,genus Streptococcus,order Clostridia-lesm and order Erysipelotrichales are one of the causes of teratozoospermia,related to the increased risk of the condition,while the family Porphyromonadaceae has a protective effect on sperm morphology,reducing the risk of teratozoospermia.

Objective To explore the effect of low-intensity pulsed ultrasound (LIPUS) on long bone fracture healing and to examine caveolin-1 gene expression in the radius defects of rabbits.Methods A total of 24 New Zealand rabbits with 3-mm bone defects at lower 1/3 in both radii were randomly assigned to 4 groups (n=6).Daily LIPUS treatment was performed to the right fracture sites at a intensity of 30 mW/cm2 for 20 minutes,while the left sites received sham treatment with power off.To assess the effects of LIPUS on bone defects,X-ray imaging and hematoxylin-eosin staining were applied 7,14,21,28 days after the surgery.Additionally,the immunohistochemical staining was used to determine the subcllular localization of caveolin-1 and semi-quantify the caveolin-1 level,qPCR was performed to detect the mRNA level of caveolin-1,gene Col2a1 and Col10a1,and osteocalcin.Results On day 14,the radiological score of the right radii and mineralized callus area were significantly higher than that of the left ones,both of them were elevated with time flied.Histological examination suggested that the differentiation and apoptosis of chondrocytes along with the formation and bridging of the bone trabeculas appeared earlier in the right radius defects.The immunohistochemical staining showed that on day 7 and 14,the level of caveolin-1 increased with the proliferation and differentiation of condrocytes,and was significantly higher in callus tissues on the right sites.On day 21 and 28,the mesenchymal stem cells migrated to the surface of cartilage matrix started to differentiate into osteoblasts,the level of caveolin-1 decreased,and was significantly lower on the right sites.The result of qPCR indicated that compared with the left sites the caveolin-1 gene expression on the right sites was significantly higher on day 7,while significantly lower on day 21.The mRNA expression levels of Col2a1,Col10a1 and osteocalcin on the right sites were significantly higher on day 7 and 14,but they were significantly lower on day 21 and 28,except for Col10a1 on day 28.Conclusions Advancing endochondral ossification is considered to be a crucial mechanism during long bone fracture healing promoted by LIPUS.The caveolin-1 gene expression first increased in the chondrocytes then decreased in the mesenchymal stem cells during the process.

OBJECTIVETo investigate the inhibitory effects of antisense oligonucleotides to different sequences on VEGF gene expression by human hepatoma cells.

METHODSSMMC7721 cells were cultured under normoxic or hypoxic conditions for 24 h, followed by being transfected with different antisense oligonucleotides (A06513 to cap structure, A06514 to translation initiation, A06515 to Exon-3 and A06516 to translation terminal). The total RNAs from the cells were extracted and the VEGF expression were examined with RT-PCR. The relative concentrations of VEGF transcripts in SMMC772 cells from different groups were determined using GAPDH (glyceraldehyde-3-phosphate dehydrogenase) cDNA as internal standard.

RESULTSIn response to the hypoxic challenge, SMMC7721 cells upregulated VEGF mRNA; Comparative to the control (no oligonucleotides), A06513, A06514, A06515, and A06516 had obvious sequence-specific inhibitory effect on VEGF gene expression, with the ratio of VEGF over GAPDH of 0.49+/-0.08, 0.71+/-0.12, 0.72+/-0.11 and 0.86+/-0.12, respectively (F=12.21, P< 0.05). A06513 showed the strongest inhibitory effect (P<0.01).

CONCLUSIONThe antisense oligonucleotides complementary to VEGF cap structure, may become a potential alternative for antisense gene therapy of HCC.

Gene Expression Regulation, Neoplastic ; Humans ; Liver Neoplasms ; genetics ; therapy ; Oligonucleotides, Antisense ; pharmacology ; Reverse Transcriptase Polymerase Chain Reaction ; Vascular Endothelial Growth Factor A ; antagonists & inhibitors ; genetics

OBJECTIVETo investigate the efficacy of heated humidified high-flow nasal cannula (HHHFNC) and nasal continuous positive airway pressure (nCPAP) in preterm infants aged 26-31(+6) weeks with respiratory distress syndrome after ventilator weaning.

METHODSA total of 161 preterm infants were randomly divided into two groups after ventilator weaning: HHHFNC treatment (n=79) and nCPAP treatment (n=82). The two groups were subdivided into 26-28(+6) weeks and 29-31+6 weeks groups according to the gestational age. The treatment failure rate, reintubation rate within 7 days after extubation, incidence of complications, and mortality during hospitalization were compared between the two groups.

RESULTSThe treatment failure rate and reintubation rate showed no significant differences between the HHHFNC and nCPAP groups. The preterm infants aged 26-28(+6) weeks in the HHHFNC group had a significantly higher treatment failure rate than those in the nCPAP group (P<0.05), while the reintubation rate showed no significant difference. As for the preterm infants aged 29-31(+6) weeks, the treatment failure rate and reintubation rate showed no significant differences between the two groups. The incidence of complications and mortality showed no significant differences between the HHHFNC and nCPAP groups.

CONCLUSIONSIn preterm infants aged 29-31(+6) weeks, HHHFNC has a similar efficacy as nCPAP after ventilator weaning, while in those aged less than 29 weeks, HHHFNC should be used with great caution if selected as the first-line noninvasive respiratory support.

Catheters ; Continuous Positive Airway Pressure ; adverse effects ; Female ; Humans ; Infant, Newborn ; Infant, Premature ; Male ; Noninvasive Ventilation ; adverse effects ; methods ; Ventilator Weaning