Objective:To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.Methods:A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).Results:Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results ( Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. Conclusion:The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.

OBJECTIVE: To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies. METHODS: A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339). RESULTS: Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results (Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. CONCLUSION The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
Humans ; Female ; Pregnancy ; Aneuploidy ; Prenatal Diagnosis/methods* ; Karyotyping ; Retrospective Studies ; Polymerase Chain Reaction/methods* ; Chromosome Disorders/genetics* ; Adult ; Trisomy 13 Syndrome/diagnosis* ; Trisomy 18 Syndrome/genetics* ; Down Syndrome/genetics*

Objective:To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.Methods:A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).Results:Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results ( Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. Conclusion:The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.

Targeted therapy has brought revolutionary breakthroughs for radioiodine-refractory differentiated thyroid cancer. New targeted drugs have prolonged the survival of patients with advanced differentiated thyroid cancer. Multiple tyrosine kinase inhibitors, represented by sorafenib and lenvatinib, have remarkably improved the progression-free survival of patients. Novel tyrosine kinase inhibitors targeting BRAF and RET mutation have also achieved remarkable curative effects, greatly enriching the treatment methods for thyroid cancer. This article reviews the latest research progress on targeted therapy in radioiodine-refractory differentiated thyroid cancer.

The authors introduced a pharmaceutical care mode by establishing a medication management platform(" Smart Pharmacists" platform), automatically and regularly sending personalized medication reminders for out-of-hospital patients. In virtue of the medication consultation service built on mobile internet technology, the hospital information system was seamlessly connected with the WeChat public account of the hospital, hence broadening pharmaceutical care. The " Smart Pharmacists" platform covered such six parts as medication reminder, medication record, voice broadcast, medication consultation, prescription query, and package insert inquiry. It serves as a reminder of taking medicine for patients out of the hospital and provides an accessible " pharmacist-patient interaction" service window, which will guarantee the safety and effectiveness of medication for out-of-hospital patients.

Objective:To evaluate the significance of S1 posterior edge inlet view for placement of percutaneous sacroiliac screws.Methods:1. CT data of the pelvis were collected from 134 normal adults and introduced into Mimics Medical 21.0 system. Anatomical parameters of sacral vertebrae were measured and analyzed to observe the anatomical disparities between the anterior and posterior edges of S1 vertebral body. A mathematical model was established using the data acquired. 2. Manual placement of sacroiliac screws was performed using a conventional S1 posterior edge inlet view on the pelvic specimens from 5 adult cadavers in simulation of actual surgical situations. After placement, the inlet views from both the S1 anterior and posterior edges were taken to observe the imaging differences and to check if the screws had pierced the sacral canal. 3. A retrospective study was conducted of the 11 patients with posterior pelvic ring fracture who had been treated at Department of Orthopaedics, Tongji Hospital from January 2019 to October 2020. Their fractures were fixated by percutaneous sacroiliac screws under the guidance of a C-arm X-ray machine. The manual placement of the screws was guided intraoperatively by the inlet views from both the S1 anterior and posterior edges to secure a safe placement. Pelvic CT examinations were performed to check any screw dislocation.Results:1. CT measurements in the normal adults showed that the angle of S1 anterior edge inlet view (20.71°±11.89°) was smaller than that of S1 posterior edge inlet view (41.99°±11.67°) and the width of S1 upper end plate [(32.22±3.41) mm] greater than that of S1 lower end plate [(20.10±3.28) mm], showing significant disparities in anatomy between the anterior and posterior edges of S1 vertebral body ( P<0.05). 2. In 2 of the 5 cadaveric specimens, imaging differences were observed between the inlet views of the anterior and posterior edges of S1 and the screws pierced out of the sacral canal. 3. Satisfactory closed reduction was achieved in all the 11 patients. A total of 17 screws were placed, with 12 ones into S1 and 5 ones into S2. Operation time ranged from 84 to 141 min (average, 114.4 min), fluoroscopy frequency from 69 to 101 times (average, 89.6 times), and intraoperative blood loss from 110 to 463 mL(average, 296.6 mL). No screw dislocation was observed on postoperative CT. Conclusion:As there is a difference between the inlet views of the anterior and posterior edges of S1 vertebral body, the inlet view of the posterior edge of S1 can display the posterior edge of S1 more clearly so as to improve the safety of placement of percutaneous sacroiliac screws.

Objective:To evaluate the effect of Candida albicans ( C. albicans) hyphae on autophagic flux in murine bone marrow-derived macrophages (BMDM) . Methods:BMDM were in vitro stimulated with C. albicans hyphae for 0.5, 4 and 12 hours, and the 0-hour group treated without hyphae served as a control. Western blot analysis was performed to detect the conversion of microtubule-associated protein 1 light chain 3 (LC3) -Ⅰto LC3-Ⅱ, and determine the expression of phosphorylated mechanistic target of rapamycin (p-mTOR) at each time point. Some BMDM were divided into several groups: control group receiving no treatment, hyphae group treated with C. albicans hyphae, lysosomal inhibitor groups treated with different lysosomal inhibitors, including E-64d (a cysteine proteinase inhibitor) + pepstatin (a pepsin inhibitor) , bafilomycin-A1 (BAF-A1) , ammonium chloride and chloroquine, and hyphae combined with lysosomal inhibitor groups treated with lysosomal inhibitors immediately followed by C. albicans hyphae. After 4- or 12-hour treatment, the effect of C. albicans hyphae on basal autophagic flux in murine BMDM was evaluated. Statistical analysis was carried out by using unpaired t test, factorial design analysis of variance and least significant difference- t test. Results:After 0.5-, 4- and 12-hour in vitro treatment with C. albicans hyphae, the conversion of LC3-Ⅰ to LC3-Ⅱ significantly increased in murine BMDM (1.254±0.118, 1.629±0.391, 1.598±0.379, respectively) compared with the 0-hour group (0.983±0.030; t=3.875, 2.856, 2.804, respectively, all P< 0.05) , while there was no significant difference in the protein expression of p-mTOR among the 0-, 0.5-, 4- and 12-hour groups. After 4- and 12-hour in vitro treatment with C. albicans hyphae combined with lysosomal inhibitors E-64d and pepstatin, the accumulation level of LC3-Ⅱ significantly increased in BMDM compared with those treated with E-64d and pepstatin alone ( t=3.691, 6.648, respectively, both P< 0.05) . Compared with the corresponding lysosomal inhibitor groups, the accumulation level of LC3-Ⅱsignificantly increased in BMDM treated with C. albicans hyphae combined with BAF-A1, ammonium chloride or chloroquine for 4 and 12 hours (all P< 0.05) . Conclusion:In vitro treatment with C. albicans hyphae can increase the conversion of LC3-Ⅰto LC3-Ⅱ in the basal autophagic flux in murine BMDM.