OBJECTIVEHirschsprung's disease (HD), one of the most common causes resulting in lower intestinal obstruction in children, is prone to be misdiagnosed or to be missed from diagnosis because of its atypical clinical symptoms and inconspicuous morphological findings by barium enema X-ray. Recently, this situation has been largely ameliorated by increased comprehension of anorectal kinetics and improvement of instrument for measurement of anorectal pressure. By now, anorectal manometry (ARMM) has been regarded as a routine means for functional assessment and diagnosis for anorectal disease. Nevertheless, the accuracy rate of diagnosis of HD in neonate by ARMM remains to be elucidated. In this study the clinical evaluation of anorectal manometry as an early diagnostic method for neonates with Hirschsprung's disease was appraised.

METHODSForty-two HD patients defined by pathological study of rectal tissue obtained via rectal mucous membrane biopsy or operation were recruited in this study. ARMM was performed in liquid transmission using PC polygraph high rate gastrointestinal dynamical detection system (PC Polygraf HR, CTD-synectics, Sweden), with 4-lumen catheter with which a small 5-cm-long balloon was connected at the terminus. All children were positioned on their left side or back during the procedure and the pressure transducers were placed in the mid-axillary line level. The results of ARMM performed before operation or biopsy were compared with the results of barium enema X-ray testing. The decrease of internal anal sphincter pressure as rectoanal inhibitory reflex (RAIR) was measured based on the fluctuation curve of pressure detected. HD was defined when no decrease of anal catheter pressure was detected after insufflation (RAIR positive), and suspected HD state was assessed with the presentation of incomplete relaxation or positive/negative results coexisted (RAIR abnormal) in canal.

RESULTSThirty patients (71.43%) were diagnosed as HD by ARMM including 18 patients who showed negative response to RAIR and 12 patients whose response was abnormal. While barium enema examinations were carried out in all the 45 patients, the results showed 5 HD patients and 14 suspected HD patients, giving an overall diagnostic accuracy of 45.24%. There were also 16 patients with positive ARMM response and negative barium enema findings together, and 5 patients with negative ARMM results and positive barium enema findings at the same time. There was a significant difference between the two diagnostic methods (chi(m)(2) = 4.76, P < 0.05).

CONCLUSIONAnorectal manometry seems to be a more reliable method for diagnosis of Hirschsprung's disease in neonate than barium enema X-ray. Because ARMM is a simple, safe and non-invasive method, it can be used as a screening test of choice in neonates with clinically suspected HD. But for final diagnosis, it is reasonable to combine ARMM with other diagnostic methods in HD patients.

Anal Canal ; physiopathology ; Barium Sulfate ; Enema ; Hirschsprung Disease ; diagnosis ; Humans ; Infant, Newborn ; Manometry ; Rectum ; pathology ; physiopathology

0.05).Conclusion The distribution of G990R CASR genotype in PHPT patients is different from healthy women,and R allele is higher in PHPT group.Among PHPT patients,A986S and G990R polymorphisms are associated with serum calcium and ICa levels.Patients with S or G allele have lower levels of serum calcium and ICa.A986S genotype is also associated with serum PTH level and patients with S allele have relatively lower level of PTH.

OBJECTIVE: To establish a 15-plex rapid STR multiplex amplification system. METHODS: Fourteen auto-chromosome loci and one sex-chromosome were selected to compare the situations of allelic losses and nonspecific amplication under different conditions. FastStart Taq DNA polymerase and DNA standard sample 9947A were used during amplification and optimization process.15-plex rapid STR amplification system was achieved by performing various experiments including selection of amplification conditions and the volume of DNA polymerase, adjustment of inter-locus balance, optimization of rapid amplification, screening of reaction buffers, selection of reaction volume, and a variety of additives. RESULTS: Using 10 μL rapid PCR system, including 1 ng DNA templates, 0.4 μL polymerase and 10xFastStart high fidelity reaction buffer, a complete and well-balance DNA profile of 15 STR loci for standard genomic DNA was obtained in 32 minutes, without the allele drop-out and non-specific amplicons. Meanwhile, 5% glycerinum, 0.01% gelatin, 0.05% gelatin and 5 mmol/L ammonium sulfate could be used as the reactive additive during the amplification procedure. CONCLUSION The 15-plex rapid STR multiplex amplification system can be used to decrease reaction time and enhance sample throughput.
Alleles ; Chromosome Mapping ; DNA/genetics* ; DNA Fingerprinting/methods* ; Forensic Genetics/methods* ; Humans ; Microsatellite Repeats/genetics* ; Polymerase Chain Reaction/methods* ; Racial Groups/genetics* ; Sensitivity and Specificity ; Tandem Repeat Sequences

Objective To investigate the expression of lysyl oxidase (LOX) in salivary pleomorphic adenoma.Methods The tissue samples were divided into two groups.Twenty samples of salivary gland pleomorphic adenoma tissues and twenty samples of normal parotid gland tissues adjacent to the pleomorphic adenoma were collected.The LOX gene mRNA expression was detected by reverse transcriptase polymerase chain reaction (RT-PCR) and Real-time PCR,and the alteration of expression was analysed.The LOX protein expression was then examined by western blotting.Results The salivary gland pleomorphic adenomatissue expressed more LOX gene mRNA and protein than normal salivary gland tissue.Conclusions LOX gene and protein may play a role in the tumorigenesis of salivary pleomorphic adenoma.

Objective To examine the expression of hedgehog signaling pathway zinc finger transcription factor Gli-2 protein in salivary pleomorphic adenoma.Methods The expression of Gli-2 protein in 60 cases of salivary pleomorphic adenoma was detected by immunohistochemistry.Results High expression of Gli-2 protein in pleomorphic adenoma was detected in the nucleus.The expression of Gli2 was strongly positive in 21 cases ( 35％ ),positive in 27 cases ( 45％ ),weakly positive in 6 cases ( 10％ ) and negative in 6 cases( 10％ ).The positive rate of Gli-2 expression was 90％ and the expression strength was 89％.Conclusions The Gli-2 protein in pleomorphic adenoma was up-regulated.The abnormal activation of the pathway may take part in the tumorigenesis of salivary pleomorphic adenoma.

Objective To study the pharmacokineties and bioequiva-lenee of two demostic cefprozil tablets.Methods Twenty healthy volun-teers were randomized into two groups,whose plasma concentrations of cis and trans isomers of eefprozil were determined at different time after single oral dose of 1 g cefprozil tablets by own control by HPLC method.The pharmacokinetic pammeters were computed and which were experi-enced variance analysis.Results Gis cefprozil:the main pharmaeoki-netic parameters of refe:rence and trial cefprozil tablets were as follows:t_(max) were(2.4±1.0),(2.3±0.8)h;C_(max) were(15.4±3.5),(14.8±2.8)μg·mL~(-1);t_(1/2) were(1.4±0.1),(1.4±0.1)h;MRT were (3.4±0.6),(3.4±0.6)h;AUC_(0-t) were(61.2±10.6),(60.3±11.4)μg·h·mL~(-1);AUC_(0-∞) were(64.7±11.2),(64.5±11.7)μg·h·mL~(-1),respectively.Trans cefprozil:the relative bioavailability of the trial preparation was(99.3±14.5)%.Trans cefprozil:the main pharmacokinetic parameters of reference and trial cefprozil tablets were as follows:t_(max) were(2.4±0.9),(2.4±0.9)h;C_(max) were(1.6±0.3),(1.5±0.3)μg·mL~(-1);t_(1/2) were(1.2±0.2),(1.5±0.6)h;MRT were(3.2±0.7),(3.2±0.7)h;AUC_(0-t) were(6.1±1.4),(5.6±1.3)μg·h·mL~(-1);AUC_(0-∞) were(6.1±1.4),(5.6±1.3)μg·h·mL~(-1),respectively.The relative bioavailability of the trial preparation was(94.0±17.5)%.Conclusion The results shows that the trial preparation and the reference prepara-tion of cefprozil were bioequivalent.

OBJECTIVETo assess the changes of serum C-reactive protein (CRP) level, left atrial size and atrial premature contraction (PAC) in patients with obstructive sleep apnea syndrome (OSAS).

METHODSThis study involved 277 patients with OSAS diagnosed after an overnight polysomnography, who underwent a 24-h Holter electrocardiography and ambulatory blood pressure monitoring for detection of PAC. According to the apnea-hypopnea index (AHI), 137 patients with PAC identified from these patients were classified into 3 groups, namely the mild (5≥AHI<15), moderate (15≥AHI<30) and severe (AHI≥30) groups. Serum CRP level was assessed by a high-sensitivity radio-immunoassay. The left atrial diameter and echocardiographic parameters were recorded by transthoracic Doppler echocardiography (TTE).

RESULTSWe found a high prevalence of PAC in these OSAS patients (137/277, 49.4%). Serum CRP was significantly higher in severe OSAS group (5.01∓4.68 mg/L) than in the moderate (3.03∓1.94 mg/L) and mild OSAS (2.98∓1.82 mg/L) groups (P=0.040 and 0.033, respectively). The left atrial diameter was significantly increased in severe OSAS group (40.1∓7.9 mm) as compared to that in moderate (37.9∓5.5 mm) and mild (33.7 ∓ 3.8 mm) groups (P=0.025 and 0.002, respectively). The severity of OSAS was positively correlated to both CRP (r=0.304, P=0.034) and left atrial diameter (r=0.411, P=0.003). After adjusting for gender, age and body mass index (BMI), a strong correlation was found between the left atrial diameter and CRP (r=0.594, P=0.0005).

CONCLUSIONThere is a high prevalence of PAC in OSAS patients. The progression of OSAS is associated with increased serum CRP level and left atrial size in patients with premature atrial complexes. Our study suggests that inflammation associated with OSAS might contribute to atrial structural and electrical remodeling in OSAS patients with PAC.

Adult ; Aged ; Atrial Premature Complexes ; complications ; pathology ; C-Reactive Protein ; metabolism ; Electrocardiography ; Female ; Heart Atria ; pathology ; Humans ; Male ; Middle Aged ; Polysomnography ; Prevalence ; Sleep Apnea Syndromes ; blood ; complications

OBJECTIVETo identify the genotype of RET gene in one multiple endocrine neoplasia type 2A (MEN2A) kindred.

METHODSGenome DNA was extracted from peripheral blood leucocytes. The DNA sequence of gel-purified polymerase chain reaction (PCR) products was determined with the previously reported 6 pairs of primers of PCR amplification of 10, 11, 13, 14, 15, and 16 exons of RETgene.

RESULTSNo abnormalities were found in exon 10, 13, 14, 15, and 16. C to G replacement in nucleotide 14 996 of exon 11 was identified in DNA samples obtained from both peripheral blood of 2 affected brothers. This missense point mutation arisen in heterozygosity and caused a substitution of Cys to Trp residue at codon 634 ( Cys 634 Trp) in RET protein.

CONCLUSIONThe genotype of the family is identified as Cys 634 Trp substitution of RET gene.

Adult ; Exons ; genetics ; Female ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2a ; genetics ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; Proto-Oncogene Proteins c-ret ; genetics

OBJECTIVETo investigate the effect of obstructive sleep apnea syndrome (OSAS) on blood lipid and blood glucose in elderly hypertensive patients.

METHODa One hundred and seven elderly hypertensive patients received examinations by polysomnography and according to the apnea-hypopnea index (AHI), the patients were divided into four groups, namely uncomplicated hypertension group (n=23) and 3 hypertension groups with mild (n=31), moderate (n=29) and severe (n=24) OSAS. The fasting and 2-hour postprandial plasma glucose, glycosylated hemoglobin (HbA1c), total cholesterol (TC), triglyceride (TG), high-density lipoprotein (HDL), low-density lipoprotein (LDL), Apo-A, and Apo-B of these patients were measured.

RESULTSaCompared with the non-OSAS patients, all the OSAS patients showed increased fasting and 2-hour postprandial plasma glucose, HbA1c, TC, TG, LDL and TC/HDL, and the increments were statistically significant in severe OSAS patients (P<0.05). The level of HDL was lowered in the OSAS groups, showing significant difference between severe OSAS group and the non-OSAS group (P<0.05). Apo-A level was lowered and Apo-B increased in the OSAS groups, but the differences were not statistically significant (P>0.05).

CONCLUSIONSOSAS may produce harmful affect on the blood glucose and blood lipids in elderly hypertensive patients.

Aged ; Aged, 80 and over ; Blood Glucose ; metabolism ; Female ; Humans ; Hypertension ; blood ; complications ; Lipids ; blood ; Male ; Middle Aged ; Polysomnography ; Sleep Apnea, Obstructive ; blood ; complications

OBJECTIVEHelicobacter pylori (Hp) infection presents high prevalence in the world, but there are few pediatric assays evaluating antimicrobial treatment using a short regimen of triple therapy. To evaluate the eradication rate and long term therapeutic effect of a triple therapy consisted of omeperazole, clarithromycin (CLA) and amoxycillin (AMO) on Hp infection, the authors explored the alternative therapeutic programs and their effects after first therapeutic failure.

METHODSA total of 192 children with Hp infection were divided into two groups: 157 children were given the triple therapy for one week (CLA group); 35 children were given another triple therapy composed of omeperazole, metronidazole (MET) and AMO for two weeks (MET group). All of the children were followed up for 1 - 36 months after the therapies ended. Twenty-two children in whom Hp was eradicated with CLA triple therapy were followed up for 3 years. The children of the two groups who had therapeutic failure were given re-treatment as follows. CLA triple therapy was given for one week to the children who had failure after MET triple therapy; increased doses of CLA with longer treatment course was given to the children who had failure after CLA triple therapy. A tetra therapy consisted of omeperazole, colloidal bismuth subcitrate (CBS), furazolidone (FUR) and AMO was given to the children in whom the re-treatment failed.

RESULTSThe Hp eradication and ulcer recovery rate of CLA group was 90.4% (142/157) and 96.9% (32/33), respectively; the Hp eradication rate of MET group was 77% (27/35). There was significant difference between eradication rates of the two groups (chi(2) = 4.69, P < 0.05). The recurrence rate of 22 Hp eradicated children treated with CLA triple therapy was 4.5% (1/22) during the 3-year follow-up. The eradication rate of the three re-treatment programs for 29 children was 75% (6/8), 77% (11/15) and 100% (6/6), respectively.

CONCLUSION(1) Omeperazole, CLA and AMO triple therapy for one week was the best to eradicate Hp infection with high eradication rate, few side effects, short period of treatment, good compliance and low recurrence rate. (2) Proper increase of CLA dose and longer therapeutic course may increase the eradication rate. Omeperazole, CBA, FUR and AMO tetra therapeutic program may be used as an alternative treatment in patients who develop resistance to CLA triple therapy.

Adolescent ; Amoxicillin ; administration & dosage ; therapeutic use ; Anti-Ulcer Agents ; administration & dosage ; therapeutic use ; Child ; Child, Preschool ; Clarithromycin ; administration & dosage ; therapeutic use ; Drug Therapy, Combination ; administration & dosage ; therapeutic use ; Female ; Follow-Up Studies ; Helicobacter Infections ; drug therapy ; Helicobacter pylori ; drug effects ; Humans ; Male ; Metronidazole ; administration & dosage ; therapeutic use ; Omeprazole ; administration & dosage ; therapeutic use ; Recurrence ; Time Factors ; Treatment Outcome