OBJECTIVETo evaluate the report quality of randomized controlled trials (RCT) of oral and maxillofacial surgery in China during 2000-2009.

METHODSA comprehensive electronic search was carried out through Chinese Biomedical Literature Database (CBM), VIP Database for Chinese Technical Periodicals (VIP) and China National Knowledge Infrastructure (CNKI), and 19 kinds of journals of stomatology in China were also hand-searched. We identified RCT published between 2000 and 2009, and classified into oral and maxillofacial surgery and labeled "random" and assessed the quality of these reports using the consolidated standards of reporting trials (CONSORT) statement.

RESULTS53 RCT articles were included. Reporting quality of the 53 articles was not high and the CONSORT score was 8.2 +/- 2.5.

CONCLUSIONThe reporting quality of RCT of oral and maxillofacial surgery in China is poor. The CONSORT statement should be used to standardize the reporting of RCT.

China ; Humans ; Oral Medicine ; Publishing ; Randomized Controlled Trials as Topic ; standards ; Surgery, Oral

OBJECTIVETo assess the reporting quality of randomized controlled trials (RCT) related to dentine hypersensitivity which were published between 2000 and 2009 in nineteen Chinese stomatological journals, learn the current status and the influence factors of reporting quality of the dentine hypersensitivity RCT, and determine whether they can provide high quality evidence clinically.

METHODSA handsearching of nineteen Chinese stomatological journals to identify dentine hypersensitivity RCT which were published between 2000 and 2009 and labeled "random". Assess the reporting quality of these RCT by Consolidated Standards of Reporting Trials (CONSORT) statement and then analyze the influence factors of reporting quality by univariate and multivariate analyses.

RESULTSWe identified 61 dentine hypersensitivity RCT, among which 45 belonged to journals of Chinese scientific study statistical source and 16 belonged to journals of non-statistical source. The reporting quality of dentine hypersensitivity RCT was not high at large and the CONSORT score was 8.1 +/- 2.4 on average. Multiple linear regression showed that the score of improved Jadad scale (t=4.656, P=0.000) was the main influence factor of reporting quality of dentine hypersensitivity RCT. The better the intrinsic authenticity was, the higher the reporting quality would be.

CONCLUSIONCurrently, reporting quality of Chinese dentine hypersensitivity RCT needs to be improved. In order to improve the reporting quality of dentine hypersensitivity RCT, experts in stomatology should not only improve experimental design before experiments, but also write papers in accordance with CONSORT statement.

Dentin Sensitivity ; Humans ; Publishing ; Randomized Controlled Trials as Topic

OBJECTIVETo establish individualized prenatal diagnosis program for families affected with Duchenne/Becker muscular dystrophy (DMD/BMD) and different clinical background using a variety of methods.

METHODSMultiplex ligation-dependent probe amplification (MLPA) was performed on 50 patients suspected for DMD/BMD. For single exon deletions of the DMD gene, PCR was used for validating the results. For those without any deletion or duplication, Sanger sequencing was used to screen for DMD gene mutations in the children and their mothers. Prenatal genetic testing was provided to female carriers using chorionic villus, amniocentesis or cord blood samples. To ensure the accuracy of diagnosis, all prenatal specimens were also subjected to linkage analysis.

RESULTSAmong the 50 patients with DMD/BMD, 23 harbored large deletions, 11 only had single exon deletions, 10 harbored duplications, and 5 had small scare mutations. No mutation was detected in one family. For 37 women undergoing prenatal diagnosis, 10 fetuses were identified as affected males, 6 were female carriers, while 21 were not found to carry any mutation. Testing of creatine kinase was consistent with the results of prenatal diagnosis. For a patient harboring exon 51 deletion, the same mutation was found in a fetus but not in their mother. The proband and fetus had inherited the same haplotype, which suggested that the mother probably has germline mosaicism for the mutation.

CONCLUSIONApplication of individualized methods for analyzing pregnant women with different clinical background can minimize the risk for giving birth to further children affected with DMD/BMD.

Adolescent ; Child ; Child, Preschool ; DNA Mutational Analysis ; Exons ; Female ; Humans ; Male ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophy, Duchenne ; diagnosis ; genetics ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD).

METHODSGenomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was analyzed using PolyPhen-2 and SIFT software.

RESULTSCompound heterozygous mutations of c.11314C>T (p.Arg3772*) and a novel missense c.889T>A (p.Cys297Ser) of the PKHD1 gene were identified in the fetus. The mother was found to have carried the c.11314C>T mutation, while the father was found to have carried the c.889T>A mutation. PolyPhen-2 and SIFT predicted that the c.889T>A mutation is probably damaging.

CONCLUSIONA novel mutation in PKHD1 gene was detected in our ARPKD family. Compound heterozygous PKHD1 mutations were elucidated to be the molecular basis for the fetus affected with ARPKD, which has facilitated genetic counseling and implement of prenatal diagnosis for the family.

Abortion, Eugenic ; Adult ; Amino Acid Sequence ; Base Sequence ; DNA Mutational Analysis ; Family Health ; Fatal Outcome ; Female ; Fetal Diseases ; diagnostic imaging ; genetics ; Fetus ; abnormalities ; metabolism ; Humans ; Male ; Mutation ; Polycystic Kidney, Autosomal Recessive ; diagnostic imaging ; embryology ; genetics ; Pregnancy ; Receptors, Cell Surface ; genetics ; Sequence Homology, Amino Acid ; Ultrasonography, Prenatal ; methods

OBJECTIVETo carry out mutation analysis and prenatal diagnosis for 12 families affected with hearing loss and enlarged vestibular aqueduct from southern Zhejiang province.

METHODSClinical data and peripheral venous blood samples of 38 members from the 12 families were obtained. Mutations of 4 genes, namely SLC26A4, GJB2, c.538C to T and c.547G to A of GJB3, m.1555A to G and m.1494C to T of 12S rRNA, were detected by PCR and Sanger sequencing. Maternal contamination was excluded by application of STR detection during prenatal diagnosis.

RESULTSAmong the probands from the 12 families, 11 were found to be compound heterozygotes or homozygotes and 25 were heterozygotes. All of the families were detected with IVS7-2A to G mutations, and 4 had a second heterozygous mutation (c.2168A to G of the SLC26A4 gene). Four rare pathogenic mutations, namely IVS5-1G to A, c.946G to T, c.1607A to G and c.2167C to G, were detected in another four families. In addition, the partner of proband from pedigree 3 was identified with compound heterozygous mutations of c.235delC and c.299-300delAT, and proband of pedigree 5 has carried a mutation of c.109G to A in GJB2. For SLC26A4 gene, prenatal diagnostic testing has revealed heterozygous mutations in 6 fetuses and compound heterozygous mutations in 2 fetuses.

CONCLUSIONIVS7-2A to G and c.2168A to G of the SLC26A4 gene were the most common mutations in southern Zhejiang. Such mutations can be found in most families affected with hearing loss and enlarged vestibular aqueduct, which may facilitate genetic counseling and prenatal diagnosis for such families.

Adolescent ; Adult ; Base Sequence ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Fetal Diseases ; diagnosis ; genetics ; Hearing Loss ; diagnosis ; embryology ; genetics ; Hearing Loss, Sensorineural ; diagnosis ; embryology ; genetics ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Vestibular Aqueduct ; abnormalities ; embryology ; Young Adult

Objective:To investigate the feasibility and safety of the X-ray guided obstructive double J tube replacement in ureter.Methods:The clinical data of 44 patients with double J tube obstruction who underwent double J tube replacement from April 2016 to August 2019 were analyzed retrospectively. Among the 44 cases, there were 3 males and 41 females, aged from 27.0 to 70.0 (54.6±11.2) years. The time since last double J tube placement, the method of transurethral remove of double J tube, the method of double J tube replacement, the location of double J tube obstruction and postoperative complications were collected, and the success rate of operation was calculated. According to the different positions of calcium salt deposition in double J tubes, the obstructive double J tubes were divided into bladder end type, renal pelvis end type, two-end type and whole partial type. The replacement method was differentiated according to different types of double J tube obstruction. The cut-off end method was to cut off the obstructed bladder end of double J tube by scissors, and the internal unobstructed double J tube could be seen. The guide wire could be introduced into the renal pelvis through the double J tube, and the new double J tube could be replaced. This method was only used for bladder end type double J tube obstruction. The thine guide wire method was to replace the common guide wire which could not pass through the renal pelvis end obstruction with the microguide wire, so that it could pass through the end of the double J tube of the renal pelvis end obstruction or through the side hole, enter into the renal pelvis, withdraw the original double J tube, and then replace the new double J tube. This method was suitable for renal pelvis end type double J tube obstruction, or combined with cut-off end method for two-end type double J tube obstruction. In the auxiliary sheath method, the obstructed double J tube was used as the support, the vascular sheath tube was sent into the ureter, and the guide wire was sent to the renal pelvis through the sheath tube to replace the new double J tube. This method was suitable for all types of double J tube obstruction.Results:A total of 47 X-ray-guided double J tube replacements were performed in 44 patients. In the removal of double J tube, 37 cases of direct method and 10 cases of indirect method were used, and the overall success rate of double J tube removal was 100% (47/47). The time from the last double J tube placement was (4.2±1.3) months. There were 23 cases of bladder end type obstruction, 8 cases of renal pelvis end obstruction, 5 cases of two-end type obstruction, and 11 cases of whole partial type obstruction.The success rate of replacing double J tubes by cut-off end method, thin guide wire method and auxiliary sheath method was 76.0% (19/25), 50.0% (2/4) and 77.8% (14/18), respectively. After the failure of the cut-off end method or the thin guide wire method, 4 cases were further replaced by the thin guide wire method or auxiliary sheath method, and 3 cases were successful. Therefore, the overall success rate of double J tube replacement was 80.9% (38/47). The double J tubes were inserted by percutanous pyelostomy in 9 patients who failed to replace double J tube successfully. Among the 44 cases, there were 4 cases of urethral orifice pain and discomfort, and 2 cases of gross hematuria, all of which relieved spontaneously.Conclusion:It is feasible and safe to replace the obstructive double J tube in ureter under X-ray guidance.

OBJECTIVE: To explore the genetic basis for two Chinese pedigrees affected with Coffin-Siris syndrome (CSS). METHODS: Whole exome sequencing (WES) was carried out for the probands. Candidate variants were verified by Sanger sequencing of the probands and their family members. RESULTS: The two probands were respectively found to harbor a heterozygous c.5467delG (p.Gly1823fs) variant and a heterozygous c.5584delA (p.Lys1862fs) variant of the ARID1B gene, which were both of de novo in origin and unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PS2+PM2). CONCLUSION The c.5467delG (p.Gly1823fs) and c.5545delA (p.Lys1849fs) variants of the ARID1B genes probably underlay the CSS in the two probands. Above results have enabled genetic counselling and prenatal diagnosis for the pedigrees.
Abnormalities, Multiple ; China ; DNA-Binding Proteins/genetics* ; Face/abnormalities* ; Hand Deformities, Congenital ; Humans ; Intellectual Disability ; Micrognathism ; Neck/abnormalities* ; Pedigree ; Transcription Factors/genetics*

OBJECTIVETo analyze the clinical features and pathological mutations in 44 families affected with hearing loss from southern Zhejiang, and to provide genetic counseling and prenatal diagnosis for 6 of the families.

METHODSMicroarray was employed to detect c.35delG, c.176del16, c.235delC and c.299-300delAT mutations of the GJB2 gene among 228 patients. For those carrying a single heterozygous mutation, the whole coding region of the GJB2 gene was analyzed by Sanger sequencing. For prenatal diagnosis, maternal DNA contamination was excluded by application of STR analysis.

RESULTSThe microarray assay has detected 49 patients with GJB2 mutations, which included 24 homozygous c.235delC mutations, 5 compound heterozygous c.235delC/c.176del16 mutations, 2 compound heterozygous c.235delC/c.299-300delAT mutations. Respectively, 16, 1 and 1 patients have carried single heterozygous c.235delC, c.176del16, and c.299-300delAT mutation. For the 16 patients, 7, 1, 1, 2, and 3 were detected by Sanger sequencing with a second heterozygous mutation of c.109G>A (2 of which were in conjunction with heterozygous c.176del16 and c.299-300delAT mutations), c.230G>A, c.427C>T, c.508-511 dupAACG, 79G>A+341A>G, respectively. Prenatal diagnosis revealed a compound heterozygous mutation in a fetus, heterozygous mutations in 4 fetuses, and no mutation of the GJB2 gene in 1 fetus.

CONCLUSIONThe proportion of carriers for GJB2 gene mutations in patients with hearing loss from southern Zhejiang has reached 21.5%. The c.235delC, c.176del16, and compound c.299-300delAT and c.109G>A mutations can cause moderate to severe hearing loss. In most affected families, Heterozygous mutations may be identified by sequencing the whole coding region of the GJB2 gene. Genetic analysis and prenatal diagnosis can prevent birth of further affected children.

Connexins ; genetics ; Female ; Genetic Testing ; methods ; Hearing Loss ; genetics ; Heterozygote ; Humans ; Male ; Mutation ; genetics ; Phenotype

Objective:To investigate the feasibility of CT hepatic arteriography(CTHA) guided percutaneous radiofrequency ablation of hepatocellular carcinoma (HCC).Methods:Forty-four patients diagnosed with hepatocellular carcinomas were enrolled in this prospective study from September 2019 to May 2021 in Henan Cancer Hospital. Thirty-three out of the 44 patients were treatment naive, 8 cases recurred after radiofrequency ablation, and the other 3 patients recurred after surgery. The mean size of HCC nodules was 5-44(17±8)mm measured on enhanced MRI images. Each patient was implanted a 5-French Cobra catheter or a 5-French RH angiographic catheter, then was catheterized into common hepatic artery or proper hepatic artery, under DSA monitoring via right femoral artery. Then the patient was transferred to CT operation room. Percutaneous radiofrequency ablation was performed by CTHA guidance using contrast agent injected via the catheter indwelled in hepatic artery. The endpoint of a complete ablation was a non-enhancing ablation necrosis zone in the target tumor and the target tumor margin at least 5 mm on CTHA. At the end of the procedure, the probe was retracted using tract ablation, and the arterial catheter and sheath were removed. The number of HCC lesions showed on the enhanced MRI and CTHA imaging were compared using Wilcoxon rank-sum test. The technical success rate and volume of contrast agent used during the CTHA ablation procedures were summarized.Results:Additional tumors were founded in 13 out of the 44 patients during the CT hepatic arteriography compared with enhanced MRI. The tumors founded by enhanced MRI and CTHA were 64 and 91 respectively, with statistical significance ( Z=-3.24, P=0.001). One patient dropped out of the study after palliative ablation and was transferred to transaterial chemoembolization treatment because the number of lesions showed by CTHA scan was more than 5. The other 43 patients got complete ablation verified by immediate postoperative assessment using CTHA. The technical success rate was 100%. The average volume of contrast agent used in CTHA guided radiofrequency ablation was 30-80(42±14)ml. There was no complications occurred related to the CTHA guided percutaneous radiofrequency ablation procedures. Conclusions:CTHA can demonstrate additional lesions that can not be detected by the enhanced MRI images, which improves the lesion conspicuity and verifies the optimal position of radiofrequency probe. The complete tumor ablation can be verified by CTHA performed immediately after ablation.

Objective:To evaluate the safety and efficacy of radiofrequency ablation guided by CT hepatic arteriography (CTHA) in the treatment of multiple nodular liver metastases of colorectal cancer.Methods:Clinical data of 32 patients with liver metastasis of colorectal cancer who underwent femoral arterial catheterization and percutaneous radiofrequency ablation guided by CT hepatic arteriography (CTHA) at the Affiliated Cancer Hospital of Zhengzhou University from March 2020 to September 2021 were retrospectively analyzed, including 21 males and 11 females, aged (53.2±9.9) years old. Before ablation, the angiography catheter were placed in the common or proper hepatic artery under the digital subtraction angiography (DSA). The patients were then transferred to a CT operating room. Under general anesthesia, contrast agent was injected into the indwelling angiography catheter and percutaneous radiofrequency ablation guided by CTHA was performed. The presentation of lesions, the dosage of contrast agent and complications during ablation were analyzed, and the treatment outcome was followed up outpatient or inpatient review.Results:All 32 patients uneventfully underwent DSA-guided angiography catheter placement, and CTHA-guided radiofrequency ablation was successfully performed in 97 lesions, with a technical success rate of 100% (97/97). The difference between CT values at the lesion enhancement site and peri-tumor hepatic parenchyma were greater than 25 HU. The total amount of contrast agent used during the procedure was 63.9±14.7 ml. All ablation-related complications were graded as A or B according to the Society of Interventional Radiology classification system. The complete ablation rate assessed by CTHA after the ablation was 100% (97/97). The rate of lesion necrosis was 100% evaluated by MRI one month after ablation. All patients were followed up and no recurrence was observed in 97 ablated lesions by the end of follow-up period.Conclusion:Radiofrequency ablation guided by CTHA is safe and feasible for the treatment of multiple nodular liver metastases of colorectal cancer, which could reduce the local recurrence of lesions after ablation.