Objective:Quantified MRCP imaging data was used as a reference for design and preparation of a modified percutaneous transhepatic cholangio drainage (PTCD) tube.Methods:3.0 T upper abdominal MR and MRCP imaging data of 2 300 patients treated from July 2015 to July 2020 at the Department of Radiology of the Affiliated Cancer Hospital of Zhengzhou University were screened and a total of 381 patients diagnosed with biliary duct structures were identified. Causative etiologies among these patients included pancreatic adenocarcinoma (pancreatic head), cholangiocarcinoma, ampullary carcinoma, as well as intrahepatic and/or extrahepatic bile duct dilation. An improved PTCD tube was designed based on MRCP quantification of left and right hepatic and common hepatic duct length.Results:In the setting of biliary obstruction caused by malignancy, the distance of the left hepatic duct from its origin to the point of left and right hepatic duct confluence was 15.9±3.8 mm, while the distance of the right hepatic duct from its origin to the point of left and right hepatic duct confluence was 12.4±3.2 mm; the length of the bile duct from its origin to the point of left and right hepatic duct confluence was 34.0±8.1 mm. The improved PTCD tube design incorporated an altered length of the drainage orifice.Conclusion:MRCP imaging of the biliary tract is effective for measuring biliary tract length in the setting of pathological dilation. Based on our biliary tract measurements, a modified PTCD tube was designed to more effectively meet drainage requirements and manage biliary obstruction caused by Bismuth-Corlette type Ⅱ and Ⅲ malignancies.

Objective:To compare the antiosteoporosis effect of conventional treatment and conventional treatment combined with Denosumab after percutaneous kyphoplasty (PKP) for osteoporotic vertebral compression fractures (OVCF).Methods:A retrospective cohort study was conducted to analyze the clinical data of 211 patients with OVCF admitted to the Second Affiliated Hospital of Soochow University from September 2020 to September 2022. All the patients were female, aged 56-90 years [(71.4±8.1)years]. The bone mineral density T-score of the lumbar spine was (-2.6±1.0)SD before operation. Fracture segments included T 1-T 9 in 45 patients, T 10-L 2 in 146, and L 3-L 5 in 69. Of all, 174 patients were treated with single-segment surgery, 25 with two-segment surgery and 12 with surgery involving three or more segments. According to the wishes of the patients, 107 patients were treated with daily oral administration of calcium and active Vitamin D after PKP (conventional treatment group) and 104 patients with Denosumab combined with the conventional treatment after PKP (Denosumab therapy group). The bone mineral density T-scores of the lumbar spine of the two groups were compared before surgery and at the last follow-up. The visual analogue scale (VAS) and Oswestry disability index (ODI) before surgery, at 3 days, 6 months after surgery, and at the last follow-up were evaluated and the refracture rate after surgery was detected. Possible adverse effects after medication during anti-osteoporosis treatment were observed in two the groups. Results:All the patients were followed up for 12-24 months [(13.5±2.0)months]. Before surgery, the bone mineral density T-score of the lumbar spine was (-2.7±1.1)SD in the Denosumab therapy group and (-2.5±0.8)SD in the conventional treatment group ( P>0.05). At the last follow-up, the bone mineral density T-score of the lumbar spine was (-2.1±1.1)SD in the Denosumab therapy group, significantly higher than (-2.5±0.9)SD in the conventional treatment group ( P<0.05). In the Denosumab therapy group, the bone mineral density T-score of the lumbar spine at the last follow-up was significantly increased compared to that before surgery ( P<0.01), while there was no significant difference in the conventional treatment group ( P<0.05). Before surgery and at 3 days after surgery, the VAS scores and ODI values were (8.5±0.9)points, (2.8±0.8)points, 48.7±4.8 and 25.6±4.0 in the Denosumab therapy group, which was not statistically different from those in the conventional treatment group [(8.5±1.3)points and (2.8±0.9)points, 47.9±7.0 and 25.9±3.7] ( P>0.05). At 6 months after surgery and at the last follow-up, the VAS scores and ODI values were (2.2±0.8)points, (1.7±0.8)points, 24.2±3.6 and 23.2±4.1 in the Denosumab therapy group, significantly lower than those of the conventional treatment group [(2.8±0.9)points, (2.8±1.1)points, 26.4±3.2 and 27.3±4.0] ( P<0.01). The VAS scores at each time point after surgery in both groups decreased significantly compared with those before surgery ( P<0.05). The VAS scores continued to decrease after surgery in the Denosumab therapy group ( P<0.05), while no significant difference was found among those at different time points in the conventional treatment group ( P>0.05). The ODI values at each time point after surgery in both groups significantly decreased compared to those before surgery ( P<0.05). The ODI values continued to decrease after surgery in the Denosumab therapy group ( P<0.05), while in the conventional treatment group, no significant difference was found between those at 6 months after surgery and those at 3 days after surgery ( P>0.05) and they were improved at the last follow-up compared with those at 3 days after surgery ( P<0.05). The refracture rate after surgery was 6.7% (7/104) in the Denosumab therapy group, significantly lower than 16.8% (18/107) in the conventional treatment group ( P<0.05). No serious complications were observed during the antiosteoporosis period in either group. Conclusion:Compared with daily oral administration of Calcium and active Vitamin D after PKP, the conventional treatment combined with Denosumab after PKP can effectively increase the bone density, relieve pain continuously, improve functional restoration, and reduce the risk of refracture in OVCF patients.

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.

Objective:To investigate the safety and efficacy of C-arm CT laser-guided puncture combined with digital subtraction angiography (DSA)for percutaneous renal pelvic catheter drainage in the treatment of hydronephrosis caused by pelvic malignancy.Methods:A retrospective analysis was performed on the data of 56 patients with ureteral obstruction caused by pelvic malignancy admitted to the Affiliated Cancer Hospital of Zhengzhou University from February 2020 to August 2021, including 10 males and 46 females. The mean age of the patients was (54.0±10.1)years old. The causes were colorectal cancer (7 cases), bladder cancer (3 cases), cervical cancer (36 cases), endometrial cancer (3 cases), ovarian cancer (2 cases), pelvic metastasis of gastric cancer (4 cases) and pelvic sarcoma (1 case). There were 71 sides of renal pelvis dilation in 56 patients, with the degree of dilation ranging from 1.2cm to 5.0cm.The degree of hydronephrosis was mild on 36 sides, moderate on 27 sides, and severe on 8 sides. Preoperative blood urea nitrogen(9.90±6.22)mmol/L and creatinine (155.80±146.83)μmol/L.During the puncture and catheter drainage, the patient was placed in the prone position, the C-arm CT scan was used to plan the puncture path, and the laser positioning of the DSA flat panel detector was used to determine the skin puncture point. With local anesthesia, the puncture direction of the puncture needle was adjusted to make the skin puncture point, the tail of the puncture needle, and the laser fixation point present a state of "three-points in one-line" when the patient stopped breathing temporarily at the end of expiratory breath in a non-fluoroscopic state, so as to achieve the preset puncture angle. Subsequently, pyelocentesis was completed according to the planned puncture depth. After successful pyelocentesis, percutaneous external renal drainage tube insertion or ureteral stents were performed under DSA. The number of renal pelvis puncture, puncture time, radiation dose, deviation of external renal drainage tube insertion angle from puncture angle, as well as postoperative hemoglobin changes, renal function recovery and complications were recorded.Results:In this group, 56 cases of 71 sides of renal pelvis puncture and catheter drainage were successfully completed, and the success rate of the operation was 100.0% (71/71). The success rate of the first needle puncture was 97.2% (69/71). Those who failed the first needle puncture succeeded in the second puncture during the operation. The puncture time of renal pelvis was (1.9±1.8) min.The intraoperative radiation dose was (2.7±1.5) mSV. The external drainage tube of the renal pelvis was placed on 53 sides, and the external drainage tube was placed on 29 sides with the same angle as the preset angle, and 24 sides with a deviation within 3°.On the first day after operation, there was no significant difference in hemoglobin compared with that before operation, urea nitrogen (5.31±1.99) mmol/L and creatinine (62.25±16.72) μmol/L were re-examined after operation, and the differences were statistically significant compared with those before operation ( P=0.008, P=0.002). No serious surgery-related complications occurred in any patient. Conclusion:C-arm CT laser-guided puncture combined with DSA percutaneous renal pelvic catheter drainage could be safe and effective in the treatment of ureteral obstruction caused by pelvic malignancy.

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*

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.

Nowadays, nanotechnology is revolutionizing the approaches to different fields from manufacture to health. Carbon nanotubes (CNTs) as promising candidates in nanomedicine have great potentials in developing novel entities for central nervous system pathologies, due to their excellent physicochemical properties and ability to interface with neurons and neuronal circuits. However, most of the studies mainly focused on the drug delivery and bioimaging applications of CNTs, while neglect their application prospects as therapeutic drugs themselves. At present, the relevant reviews are not available yet. Herein we summarized the latest advances on the biomedical and therapeutic applications of CNTs and for neurological diseases treatments as inherent therapeutic drugs. The biological mechanisms of CNTs-mediated bio-medical effects and potential toxicity of CNTs were also intensely discussed. It is expected that CNTs will exploit further neurological applications on disease therapy in the near future.

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.

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 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