Objective To evaluate initial results of Ivor Lewis minimally invasive esophagectomy (MIE) for esophageal carcinoma using a diamond-shaped anastomosis with 45 mm linear-stapler.Methods Clinical data of 12 patients diagnosed middle to distal esophageal carcinoma and undergoing Ivor Lewis minimally invasive esophagetomy using a diamond-shaped anastomosis technique during Dec.2015 and Nov.2016 in Peking Union Medical College Hospital were collected and analyzed retrospectively.Results The mean operation time was (378 ± 56) min,the mean blood loss was (280 ± 120) ml,and the mean postoperative hospital stay was (12.2 ± 2.0) days.No positive margin,no peri-operative death occurred.Postoperative complication included atelectasis and pulmonary infection in 1 patient,paresis of left recurrent laryngeal nerve in 1 patient.No anastomotic leak or constriction occurred.Median follow up was 7 months,11 patients had no evidence of disease progress,1 patient had subcutanecous metastasis and was reoperated.Conclusion The diamond anastomosis technique utilizing in Ivor Lewis MIE for esophageal carcinoma is feasible,easy to manipulate,safe and reliable.

Objective To investigate the anti-tumor activities of cell-penetrating peptide ( CPP) - mediated trichosanthin ( TCS) , which is a recombinant protein obtained from Radix Trichosanthis. Methods Cysteine residue was introduced to the C-terminus of TCS by protein recombinant technique, and then with the newly-formed terminal as the modification site, TCS was coupled with CPP. As a target protein, CPP-mediated TCS was isolated and purified by affinity chromatography. The expression of the target protein and its responsiveness to reducing substances were detected by using the sodium dodecyl sulfate-polyacrylamide gel electrophoresis. The cellular uptake rate of CPP-mediated TCS was determined by using cell uptake test, and its anti-tumor activity was measured by using methyl thiazolyl tetrazolium (MTT) assay. Results The TCS-CPP compound had been successfully developed in this study, and showed certain reducing responsiveness. After modified with CPP, TCS had higher cellular uptake rate and stronger anti-tumor effect on HeLa and MCF-7 cells. Conclusion TCS modified by CPP can enhance the anti-tumor activities of TCS.

Objective:To evaluate the optimized effect of infiltration between the popliteal artery and the capsule of the knee (IPACK)-adductor canal block (ACB) combined with general anesthesia when used for the total knee arthroplasty.Methods:Sixty patients of both sexes, aged 18-64 yr, with body mass index of 18-24 kg/m 2, of American Society of Anesthesiologists physical status Ⅰ or Ⅱ, scheduled for elective unilateral total knee arthroplasty, were divided into 2 groups ( n=30 each) using a random number table method: IPACK-ACB combined with general anesthesia group (group IA) and conventional anesthesia femoral nerve block-popliteal superior sciatic nerve block combined with general anesthesia group (group C). Before induction of general anaesthesia, 0.375% ropivacaine 15 ml was injected for IPACK and 0.375% ropivacaine 25 ml for ACB under the ultrasound guidance in group IA, femoral nerve block and popliteal superior sciatic nerve block was performed under the guidance of ultrasound combined with a nerve stimulator and 0.375% ropivacaine 20 ml was injected in group C. After confirming the efficacy of nerve block, total intravenous anesthesia was carried out to maintain bispectral index values at 40-60.Patient-controlled intravenous analgesia was performed with sufentanil after operation, and the visual analog scale score was maintained ≤ 3.The quadriceps muscle strength score was recorded when discharge from postanesthesia care unit and at 24, 48 and 72 h after surgery.The first postoperative off-bed time and development of foot drop in awake patients after surgery, requirement for rescue analgesia and adverse reactions were recorded.The postoperative length of hospital stay and score for patients′ satisfaction with postoperative recovery were also recorded. Results:Compared with group C, the postoperative quadriceps muscle strength scores and score for patients′ satisfaction with postoperative recovery were significantly increased, the incidence of postoperative foot drop was decreased, and the length of hospital stay and first postoperative off-bed time were shortened in group IA ( P<0.05). Conclusion:IPACK-ACB combined with general anesthesia may be an optimized strategy which is helpful for outcomes after total knee arthroplasty.

Background and objective Primary neuroendocrine carcinoma of thymus (pNECT) is a rare thymic neoplasm. Some pNECTs could produce an adrenocorticotropic hormone and cause Cushing syndrome (CS). hTe aim os this study is to discuss the diagnostic technique and surgical management of pNECT-caused CS and analyze prognosis factors to improve the clinical experience of the disease.MethodshTe outcome of surgery and follow-up of 14 cases (eight males and six females) of pNECT-caused CS were retrospectively analyzed from November 1987 to June 2013.ResulthTe median age of the patients was 29, and the median duration of the disease was four months (1 month-44 months). All cases exhibited clinical evi-dence for the diagnosis of CS, and thoracic computed tomography (CT) was used to detect thymic tumors. Surgical treatment signiifcantly decreased the concentration of both serum cortisol and adrenocorticotropic hormone (P<0.01) but caused one death in the perioperative period. With multidisciplinary therapy, the median survival was 38 months.Conclusion pNECT-caused CS is a rare disease with aggressive characteristics and unclear prognosis. Early diagnosis and therapy is a challenge for clinicians. hToracic CT is important for disease location and preoperative evaluation and should be routinely applied to all CS patients to allow early surgery and improved prognosis.

OBJECTIVE To identify the potential pathogenic mutation in a Chinese family with split hand/foot malformation (SHFM). METHODS Affymetrix SNP 6.0 array was used to perform a genome-wide copy number variations scan, and quantitative real-time PCR (qPCR) was applied to validate the identified genomic duplication. RESULTS A ~560 kb microduplication on the chromosome 10q24 was identified. The qPCR assay confirmed the presence of this microduplication in all the available affected family members. CONCLUSION The ~560 kb microduplication is probably the pathogenic mutation underlying the SHFM phenotype in the studied family.
Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; China ; Chromosome Duplication ; Chromosomes, Human, Pair 10 ; genetics ; DNA Copy Number Variations ; Foot Deformities, Congenital ; genetics ; Hand Deformities, Congenital ; genetics ; Humans ; Male ; Middle Aged ; Pedigree ; Young Adult

OBJECTIVETo identify the causative mutation in a Chinese family affected with dentinogenesis imperfecta shields type II (DGI-II).

METHODSWith informed consent obtained from all participants, peripheral blood or chorionic villi samples were collected from the family members. Genomic DNA was extracted using a standard SDS-proteinase K-phenol/chloroform method. The whole coding region and exon/intron boundaries of the DSPP gene were amplified with polymerase chain reaction (PCR) and subjected to Sanger sequencing. To confirm the pathogenicity of the identified mutation, an Alu I recognition sequence was introduced into the mutant allele using mismatch primers by semi-nested PCR. Restriction fragment length polymorphism (RFLP) analysis was then carried out for all family members and 60 unrelated healthy controls. Meanwhile, mini-DSPP constructs were conducted to confirm the effect of the mutation in vitro.

RESULTSA splicing site mutation, c.52-1G>A, which was located upstream of exon 3, was found in all three patients and the fetus of the proband. Restriction analysis confirmed that all unaffected individuals and the 60 healthy controls did not carry the same mutation. The expression of minigene showed that the exon 3 of the DSPP gene was skipped during the transcription.

CONCLUSIONA novel pathogenic splicing-mutation c.52-1G>A has been detected in a Chinese family affected with DGI-II, which enabled prenatal diagnosis for the fetus of the proband.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child, Preschool ; Dentinogenesis Imperfecta ; genetics ; Exons ; Extracellular Matrix Proteins ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Phosphoproteins ; genetics ; Point Mutation ; RNA Splicing ; Sialoglycoproteins ; genetics

OBJECTIVE: To analyze the genetic cause of a family with autosomal recessive neuronal ceroid lipofuscinoses (NCL). METHODS: The proband was screened for mutations within the coding region of the candidate genes through high-throughput targeted sequencing. Potential causative mutations were verified by PCR and Sanger sequencing in the proband and his parents. RT-PCR and TA clone sequencing were performed to investigate whether the mRNAs were abnormally spliced. RESULTS: The sequencing results revealed compound heterozygous mutations of :c.486+2T>C and c.486+4A>T, which were respectively inherited from his parents. RT-PCR and TA cloning sequencing suggested that the mRNAs were abnormally spliced in two forms due to both mutations. CONCLUSIONS The compound heterozygous mutations of :c.486+2T>C and c.486+4A>T are possibly the genetic causes of the NCL family. Detection of the novel mutation has extended mutation spectrum of .
Alternative Splicing ; Female ; Humans ; Male ; Membrane Proteins ; genetics ; Mutation ; Neuronal Ceroid-Lipofuscinoses ; genetics

Nanotechnology-based photothermal therapy has attracted great attention in the past decade. Nevertheless, photothermal therapy has some inherent drawbacks, such as the uneven heat production and limited laser penetration, often leading to insufficient treatment outcomes. Here, we developed a combination strategy to improve cancer therapy. The biomimetic albumin-modified gold nanorods (AuNRs) were prepared with incorporation of paclitaxel (PTX). This therapeutic system was characterized by several features. First, the albumin modification enhanced the biocompatibility and colloidal stability. Second, the surface-coated albumin promoted cellular uptake the albumin-binding protein pathway. Third, PTX was incorporated hydrophobic interaction between PTX and the albumin lipophilic domain. Fourth, the system can be used for combined photothermo-chemotherapy for yielding synergistic effects. The antitumor activity of the system was evaluated both and using the HCT116 colon cancer cell and tumor model. The combination therapy was found with an enhanced treatment efficiency and no obvious side effect. Most importantly, the thermal effect was also discovered with the ability to modulate the tumor microenvironments and suppress the macrophages polarization towards the M2 pro-tumor phenotype. It could be a mechanism for photothermal immunotherapy. The combination strategy and the system provide a potential method for cancer therapy.

OBJECTIVE: To identify pathogenic mutation for a family with neurofibromatosis type 1(NF1) and provide prenatal diagnosis for them. METHODS: Mutation analysis of the sporadic family with NF1 was performed with target captured next generation sequencing and Sanger sequencing. RNA samples were extracted from the lymphocytes of NF1 patient and her parents. RT-PCR and Sanger sequencing were performed to analyze the relative mRNA expression in the samples. Prenatal diagnosis of the pathogenic mutation was offered to the fetus. RESULTS: A novel splicing mutation c.1260+4A>T in the gene was found in the proband of the family, but was not found in her parents.cDNA sequencing showed that 13 bases inserted into the 3' end of exon 11 in the gene lead to a frameshift mutation. Prenatal diagnosis suggested that the fetus did not carried the mutant. CONCLUSIONS The : c.1260+4A>T mutation found in the NF1 patient is considered to be pathogenic, which provides information for family genetic counseling and prenatal diagnosis.
DNA Mutational Analysis ; Female ; Frameshift Mutation ; Genetic Testing ; Humans ; Male ; Neurofibromatosis 1 ; diagnosis ; genetics ; Pregnancy ; Prenatal Diagnosis

Objective    To explore the diagnostic value of circulating tumor cells (CTC) measured by magnetic nanoparticle method in lung cancer. Methods    (1) We measured binding capability of A549 or NCI-H1965 cell lines with recognition peptide and capture efficiency by adding tumor cells into the whole blood of healthy human. (2) We measured CTC of 34 patients suspected with lung cancer, and the counting results of CTC were compared with the following pathological results. Results    (1) The binding capability was 80.0%±6.0% for A549 and 70.1%±4.8% for H1957, while the capture efficiency was 57.3%±7.0% for A549 and 37.3%±6.1% for H1975. (2) CTCs were identified in 71.9% of patients with lung cancer. The specificity was 83.3%, and area under receiver operating characteristic (ROC) curve was 0.792 (P=0.003). Conclusion    CTC measured by magnetic nanoparticle method has promising application in the diagnosis of lung cancer.