Continuous femoral nerve block and patient-controlled intravenous postoperative analgesia on Th1/Th2 in patients undergoing total knee arthroplasty.

The purpose of this study is to observe and compare the effects of continuous femoral nerve block (cFNB) and patient-controlled intravenous analgesia (PCIA) on postoperative analgesia and Th1/Th2 in patients undergoing total knee arthroplasty (TKA). Forty-six TKA were selected and randomly divided into two groups: the cFNB group and PCIA group. Patients in the two groups all underwent general anesthesia using a laryngeal mask. In the cFNB group, the femoral nerve block and catheterization were performed after induction of general anesthesia: 0.375% ropivacaine hydrochloride with a 20 mL loading dose was provided. After the end of the operation, the electronically controlled analgesia pump was connected. In the PCIA group, fentanyl with a 0.05 mg loading dose was provided and the electronic controlled analgesia pump was connected at the end of the operation. Venous blood was collected before anesthesia (T0), 1 h postoperatively (T1), 24 h postoperatively (T2) and 48 h postoperatively (T3). Th1/Th2 was calculated and analyzed by flow cytometry, and other indexes of these time points were recorded. The results show that there was no significant difference between the two groups regarding changes in blood pressure, heart rate and postoperative sedation Ramsay score. There was no significant difference in Th1 percentages (Th1%), Th2 percentages (Th2%) and ratios of Th1-to-Th2 (Th1/Th2) between the two groups at T0, T1 and T2 (P>0.05), while the Th1%, Th2% and Th1/Th2 of the PCIA group were lower than those of the cFNB group at T3 (P less than 0.05). It was concluded that cFNB represents a better postoperative analgesia for patients than PCIA, and has a lesser effect on Th1/Th2 balance, which can improve the outcome of patients.

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.

Short rib-polydactyly syndrome type III (SRPS3) is a perinatal lethal skeletal disorder with polydactyly and multisystem organ abnormalities. While ultrasound of the fetus can detect skeletal abnormalities characteristic of SRPS3, the syndrome is often difficult to diagnose before birth. As SRPS3 is an autosomal recessive disorder, identification of the gene mutations involved could lead to the development of prenatal genetic testing as an accurate method of diagnosis. In this study, we describe genetic screening approaches to identify potential abnormalities associated with SRPS3. Karyotype analysis, array comparative genomic hybridization (aCGH), and next-generation panel sequencing were each performed on a fetus showing signs of the disorder, as well as on the mother and father. Karyotype and aCGH results revealed no abnormalities. However, next-generation panel sequencing identified novel mutations in the DYNC2H1 gene. The fetus was compound heterozygous for both a missense mutation c.8313A > T and a frameshift mutation c.10711_10714delTTTA in the DYNC2H1 gene, which were inherited from the mother and father, respectively. These variants were further confirmed using Sanger sequencing and have not been previously reported. Our study indicates the utility of using next-generation panel sequencing in screening for novel disease-associated mutations.

A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21.

Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here, we report the case of a 6-year-old girl who showed partial trisomy of 11q and 22q, as a result of a maternal balanced reciprocal translocation (11;22), and exhibited dysmorphic features, severe intellectual disability, brain malformations, and speech delay related to this unique chromosomal abnormality. Array comparative genomic hybridization (array CGH) revealed a gain in copy number on the long arm of chromosome 11, spanning at least 18.22 Mb. Additionally, there was a gain in copy number on the long arm of chromosome 22, spanning at least 3.46 Mb. FISH analysis using a chromosome 11 short arm telomere probe (11p14.2), a chromosome 11 long arm telomere probe (11q24.3), and a chromosome 22 long arm telomere probe (22q13.33) confirmed the origin of the marker chromosome. It has been confirmed by the State Key Laboratory of Medical Genetics of China that this is the first reported instance of the karyotype 47,XX, +der(22)t(11;22)(q23.3;q11.1)mat in the world. Our study reports an additional case that can be used to further characterize and delineate the clinical ramifications of partial trisomy of 11q and 22q.

Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report.

Birth defects are structural and/or functional malformations present at birth that cause physical or mental disability and are important public health problems. Our study was aimed at genetic analysis and prenatal diagnosis of congenital anomalies to understand the cause of certain birth defects. Karyotypes and array-comparative genomic hybridization (aCGH) were performed on a pregnant woman, surrounding amniotic fluid, and her husband. A short-stature panel genetic test was conducted in accordance with the phenotype of the fetus. Following examination, it was determined that the karyotype and aCGH results were normal. The RECQL4 gene in the fetus showed compound heterozygous mutations, and each parent was found to be a carrier of one of the mutations. The two heterozygous mutations (c.2059-1G>C and c.2141_2142delAG) were detected in the RECQL4 (NM_004260) gene in the fetus; therefore, the fetus was predicted to have Baller-Gerold syndrome. These two mutations have not previously been reported. In addition, these results identified a 25% risk of the parents having a sec-ond conceptus with this congenital disease. Therefore, prenatal genetic diagnosis was highly recommended for future pregnancies.

A method of utrophin up-regulation through RNAi-mediated knockdown of the transcription factor EN1.

The aim of this study was to induce up-regulation of the dystrophin-related gene UTRN that encodes the protein utrophin, to determine whether this could compensate for the lack of dystrophin function in Duchenne muscular dystrophy. The human UTRN promoter, which contains two putative binding sites for homeobox protein engrailed-1 (EN1), was analysed. It was found that EN1 binding site 2 in the UTRN gene promoter directly interacted with transcription factor EN1 in vitro. Chromatin immunoprecipitation assays of the EN1-UTRN promoter complex from rhabdomyosarcoma and HeLa cell lines confirmed that endogenous EN1 interacted with this region in vivo. The findings suggest that EN1 directly interacts with the UTRN promoter. Small interfering RNA was used to inhibit EN1 gene expression. Higher utrophin mRNA levels were observed in EN1-inhibited cells compared with controls. The increase in utrophin mRNA in rhabdomyosarcoma cells and HeLa cells may have resulted from inhibition of EN1 expression.