Genetic analysis of the false positive trisomy 7 and false negative trisomy 18 by NIPT-PLUS / 中华医学遗传学杂志

OBJECTIVE@#To explore the cause of inconsistency between the results of trisomy 7 by expanded non-invasive prenatal testing (NIPT-PLUS) and trisomy 18 by prenatal diagnosis.@*METHODS@#A pregnant woman who received genetic counseling at Jiaozuo Maternal and Child Health Care Hospital on July 5, 2020 was selected as the study subject. NIPT-PLUS, systematic ultrasound and interventional prenatal testing were carried out. The middle segment and root of umbilical cord, center and edge of the maternal and fatal surface of the placenta were sampled for the validation by copy number variation sequencing (CNV-seq).@*RESULTS@#The result of NIPT-PLUS indicated that the fetus has trisomy 7. Systematic ultrasound has shown multiple malformations including atrioventricular septal defect, horseshoe kidney, and rocker-bottom feet. However, QF-PCR, chromosomal karyotyping analysis, and CNV-seq of amniotic fluid samples all showed that the fetus was trisomy 18. Validation using multiple placental samples confirmed that the middle segment of the umbilical cord contains trisomy 18, the center of the placenta contained trisomy 7, and other placental sites were mosaicism for trisomy 7 and trisomy 18. Notably, the ratio of trisomy 18 became lower further away from the umbilical cord.@*CONCLUSION@#The false positive results of trisomy 7 and false negative trisomy 18 by NIPT-PLUS was probably due to the existence of placental mosaicism. Strict prenatal diagnosis is required needed aneuploidy is detected by NIPT-PLUS to exclude the influence of placental mosaicisms.

β-amyloid plaque deposition in the brain of Alzheimer′s disease mouse model by 18F-FINH-Me imaging / 中华核医学与分子影像杂志

Objective:To synthesize a new β-amyloid (Aβ) radioactive tracer (2-((2-6-[ 18F]fluoro-5-(methylamino)pyridin-2-yl)benzothiazol-6-yl)thio)ethanol ( 18F-FINH-Me), and evaluate its biological distribution and affinity to Aβ plaques. Methods:18F-FINH-Me was synthesized by GE FN automated module, and the quality control and stability of 18F-FINH-Me were determined with high performance liquid chromatography (HPLC). The biodistribution of 18F-FINH-Me was observed in normal C57BL/6 mice ( n=25). MicroPET/CT imaging was performed in Alzheimer′s disease (AD) model mice( n=5) and matched normal C57BL/6 mice( n=5). The brain tissues of mice were taken for Aβ immunohistochemical staining. 18F-FINH-Me autoradiography was performed in postmortem brain sections of one AD patient (female, 69 years old) and one healthy volunteer (female, 66 years old). Results:The decay correction yield of 18F-FINH-Me was (53±4)% ( n>20) with the radioactive purity of more than 98% ( n>20) and the specific activity of 79.90-122.00 GBq/μmol ( n=10). 18F-FINH-Me was stable in phosphate buffered solution (PBS) after incubation for 4 h at room temperature. The biodistribution showed that 18F-FINH-Me was mainly excreted through the liver and kidneys. MicroPET/CT imaging showed that 18F-FINH-Me was obviously uptaken in the brain of AD mice. After injection for 1-2 min, the uptake of 18F-FINH-Me reached the peak, and the elution speed was fast (whole brain standardized uptake value: 0.73±0.17 for 1 min, 0.31±0.06 for 30 min). The immunohistochemistry showed that there were abundant Aβ plaques in the brain of AD model mice but not in the normal C57BL/6 mice brain. The autoradiographic results showed that 18F-FINH-Me exhibited substantial plaque labeling in brain sections of one AD patient but not in the healthy volunteer. Conclusion:18F-FINH-Me may be an effective PET agent for detecting Aβ plaques in brain.

Genetic analysis of an infant with duplication of 22q12.1-q13.3 / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for an infant with multiple malformations including congenital heart disease and cleft palate.@*METHODS@#The child and his parents were subjected to conventional chromosomal karyotyping and low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis.@*RESULTS@#The infant was found to have a 46,X,add(Y)(q11.23) karyotype, and his CNV-seq result was seq [hg19] 22q12.1q13.3 (29 520 001-51 180 000)× 3. His parents were found to be normal by both methods.@*CONCLUSION@#The additional chromosomal material found on Yq, verified as duplication of 22q12.1-q13.3, may account for the abnormal phenotype in this infant. CNV-seq has provided a useful complement for the diagnosis and more accurate information for genetic counseling.

Effects of computer aided design and manufacture for reconstruction of mandibular defect with vascu-laried iliac crest flap graft / 中华医学美学美容杂志

Objective To evaluate the clinical application and effect of computerized digital sur -gical assisted design and manufacture for reconstruction of mandibular defect with vascularied iliac crest flap graft .Methods CT was used to scan the craniofacial and maxillofacial region of mandibular ameloblastoma patient ,and then the 3D model of the maxillofacial skeleton was reconstructed using the computerized digital surgical aid design to simulate the focal resection and the mandibular defect reconstruction with the iliac crest flap .Surgical guides were prepared by 3D printing to assist focal re-section and bone reshaping .Postoperatively ,clinical and CT examinations were performed to observe the restoration of the patient's facial appearance and occlusal relationship ,as well as wound healing and graft survival .Results Postoperative review results showed that the bone graft survived well ,and the anastomosed bone was formed .The wound in the surgery area healed .No recurrence of the tumor was found after clinical and CT examination .The maxillofacial appearance was well restored ,and the re-sidual occlusal relationship recovered well .Conclusions The use of computerized digital surgical aided design combined with 3D printing technology can effectively simplify the mandibular segmental defect repair and reconstruction and optimize the postoperative repair effect .

Design and manufacture of medical carbon fiber thermostatic heating pads / 中国组织工程研究

BACKGROUND: It has been pointed out that perioperative hypothermia can increase the incidence of coagulation, acidosis, stroke, sepsis, pneumonia and myocardial infarction, so it is of great significance to monitor and maintain normal body temperature during perioperative period. OBJECTIVE: To design a medical carbon fiber thermostatic heating pad to prevent perioperative hypothermia and reduce complications. METHODS: The carbon fiber heating technology and medical equipment standard are combined and integrated into many advanced technologies. The system mainly consisted of power supply conversion, operation system, computer control system, PWM control and output, various heating pads and temperature controlling measurement system. A total of 200 patients undergoing epidural anesthesia in Zhengzhou First People's Hospital were randomly divided into two groups: the observation group (n=100) was treated with the medical carbon fiber thermostatic heating pad (adjusting temperature 38-40 oC), and the control group (n=100) with common quilt. The body temperature and shivering were monitored before operation, 10, 30 and 60 minutes after anesthesia, and 2 hours after operation. RESULTS AND CONCLUSION: (1) The heating pad had the characteristics of explosion proof, power purification, shielding isolation, output protection, computer control, and PWM modulation. (2) In clinical application, there was no skin irritation and skin allergy reaction in the observation group. (3) During operation, the body temperature of the observation group was relatively stable, and there was no significant difference in the body temperature in the observation group before and at 2 hours after operation (P> 0.05). However, the fluctuation of body temperature in control group was visible and showed a downward trend, and the body temperature in the control group showed a significant difference before and 2 hours after operation (P < 0.05). The body temperature of 10, 30, 60 minutes after anesthesia and 2 hours after operation was significantly higher in the observation group than the control group (P < 0.05). (4) The postoperative incidence of shivering in the control group was significantly higher than that in the observation group (18％ vs. 5％, P < 0.05). To conclude, the medical carbon fiber thermostatic heating pad is advanced in technology, safe and reliable in use, providing a new way for the prevention of perioperative shivering.

Values of CAD/CAM technology and assistant reconstruction in mandible defect with fibular musculocutaneous flap / 中华医学美学美容杂志

Objective To explore the role of computer-aided design and manufacturing technology (CAD/CAM technology) in the repair of mandibular defects using the fibular osteomyocutaneous free flap.Methods Eight patients with a portion of mandible defect due to various reasons were subjected to preoperative CT scan,obtaining CT data of the mandible and the fibular bone to be transplanted.The original and the reconstructed skull model,as well as the mandible and fibula osteotomy guide plates,was printed using CAD/CAM technology.The titanium plates were preformed using the reconstructed skull model,and the operation was performed with the help of guide plates and a preformed titanium plate.The patients were followed up for 6 to 24 months to evaluate the operation effect.Results Two in 8 cases had flap necrosis caused by immune rejection of the implant,and one case had flap necrosis due to poor postoperative blood glucose control.The other 5 patients healed at the primary site and the fibular myocutaneous flap survived well.There were no serious complications in the donor and recepient site.The patients' satisfaction was high.Conclusions The reconstruction of mandible with the aid of CAD/CAM technique has the advantages of accelerating the operation process,shortening the operation time,improving the accuracy of mandibular amputation and fibular shaping,promotlng postoperative function and morphology recovery.

Clinical detection of seven porcine diarrhea-associated viruses and evolution analysis of porcine kobuvirus / 生物工程学报

In this study, a multiplex RT-PCR method was developed for detection of seven diarrhea-associated porcine viruses, including porcine teschovirus (PTV), porcine sapovirus (PSV), porcine deltacornavirus (PDCoV), porcine kobuvirus (PKV), porcine sapovirus (PSaV), porcine astrovirus (PAstV) and porcine torovirus (PToV). A total of 419 samples were screened by this method and results showed that PKV had the highest positive rate of 26.98%?45.79% and its mixed infection rate reached 9.52%-18.54%. On account of high positive rate of PKV and its important role in diarrhea disease, complete genomic sequences of three PKV positive samples were further sequenced. Three PKV labeled as PD-PKV, JS-PKV and CM-PKV were classified into porcine kobuvirus genus and had far genetic distance with other kobuviruses. The complete genome homologies among them were 88.1%-89.1%. CM-PKV had the highest identity with the Chinese strain JS-02a-CHN/2013 reported in 2013 while JS-PKV and PD-PKV were most closed to the K-30-HUN/2008/HUN strain reported in Hungary in 2008. This illustrates the significant genetic differences of the different PKV isolates in Shanghai while its relationship with the viral pathogenicity still needs to be explored. This research provides references for further understanding the prevalence of PKV and its role in swine diarrhea.