1.Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report.
Li HAN ; Qian LIJUAN ; Xu NAN ; Huang LI ; Qiao LI-XING
Chinese Medical Sciences Journal 2022;37(4):349-352
Autosomal recessive congenital ichthyosis (ARCI) is characterized by being born as collodion babies, hyperkeratosis, and skin scaling. We described a collodion baby at birth with mild ectropion, eclabium, and syndactyly. Whole exome sequencing showed a compound heterozygous variant c.[56C>A], p.(Ser19X) and c.[100G>A], p.(Ala34Thr) in the PNPLA1 gene [NM_001145717; exon 1]. The protein encoded by PNPLA1 acts as a unique transacylase that specifically transfers linoleic acid from triglyceride to ω-hydroxy fatty acid in ceramide, thus giving rise to ω-O-acylceramide, a particular class of sphingolipids that is essential for skin barrier function. The variant was located in the patatin core domain of PNPLA1 and resulted in a truncated protein which could disrupt the function of the protein. This case report highlights a novel compound heterozygous mutation in PNPLA1 identified in a Chinese child.
Humans
;
Infant, Newborn
;
Acyltransferases/genetics*
;
Ceramides/metabolism*
;
Collodion
;
Ichthyosis, Lamellar/genetics*
;
Lipase/metabolism*
;
Mutation
;
Phospholipases/genetics*
2.Development of a colloidal gold-based immunochromatographic strip for rapid detection of Rice stripe virus.
De-Qing HUANG ; Rui CHEN ; Ya-Qin WANG ; Jian HONG ; Xue-Ping ZHOU ; Jian-Xiang WU
Journal of Zhejiang University. Science. B 2019;20(4):343-354
Rice stripe virus (RSV) causes dramatic losses in rice production worldwide. In this study, two monoclonal antibodies (MAbs) 16E6 and 11C1 against RSV and a colloidal gold-based immunochromatographic strip were developed for specific, sensitive, and rapid detection of RSV in rice plant and planthopper samples. The MAb 16E6 was conjugated with colloidal gold and the MAb 11C1 was coated on the test line of the nitrocellulose membrane of the test strip. The specificity of the test strip was confirmed by a positive reaction to RSV-infected rice plants and small brown planthopper (SBPH), and negative reactions to five other rice viruses, healthy rice plants, four other vectors of five rice viruses, and non-viruliferous SBPH. Sensitivity analyses showed that the test strip could detect the virus in RSV-infected rice plant tissue crude extracts diluted to 1:20 480 (w/v, g/mL), and in individual viruliferous SBPH homogenate diluted to 1:2560 (individual SPBH/μL). The validity of the developed strip was further confirmed by tests using field-collected rice and SBPH samples. This newly developed test strip is a low-cost, fast, and easy-to-use tool for on-site detection of RSV infection during field epidemiological studies and paddy field surveys, and thus can benefit decision-making for RSV management in the field.
Antibodies, Monoclonal/chemistry*
;
China
;
Chromatography, Affinity/methods*
;
Collodion/chemistry*
;
Colloids/chemistry*
;
Gold Colloid/chemistry*
;
Materials Testing
;
Membranes, Artificial
;
Oryza/virology*
;
Plant Diseases/virology*
;
Reproducibility of Results
;
Sensitivity and Specificity
;
Species Specificity
;
Tenuivirus/isolation & purification*
3.A Case of Self-healing Collodion Baby.
Seong Hoon SEO ; Sang Eun LEE ; Soo Chan KIM
Korean Journal of Dermatology 2018;56(10):645-647
No abstract available.
Collodion*
4.Preparation and immunogenicity of influenza virus-like particles using nitrocellulose membrane filtration.
Young Chan PARK ; Jae Min SONG
Clinical and Experimental Vaccine Research 2017;6(1):61-66
PURPOSE: Nitrocellulose membrane–based filtration system (NCFS) is widely used for protein concentration. In this study, we applied NCFS for production of virus-like particle (VLP) as a vaccine candidate and evaluated yield property and immunogenicity. MATERIALS AND METHODS: Influenza VLPs were generated by baculovirus-insect cell protein expression system. NCFS and sucrose gradient ultracentrifugation were used for purification of VLP. Immunogenicity of VLP was evaluated by animal experiment. RESULTS: Influenza VLPs expressing hemagglutinin (HA) and neuraminidase proteins derived from highly pathogenic influenza virus (H5N8) were effectively produced and purified by NCFS. HA activity of VLP which correlated with antigenicity was well conserved during multiple purification steps. This NCFS based purified VLPs induced influenza virus–specific antibody responses. CONCLUSION: Our results indicate that the influenza VLP vaccine could be prepared by NCFS without loss of immunogenicity and elicit antigen-specific immune responses.
Animal Experimentation
;
Antibody Formation
;
Baculoviridae
;
Collodion*
;
Filtration*
;
Hemagglutinins
;
Influenza, Human*
;
Membranes*
;
Neuraminidase
;
Orthomyxoviridae
;
Sucrose
;
Ultracentrifugation
;
Vaccines
5.Development of an immunochromatographic strip for detection of antibodies against porcine reproductive and respiratory syndrome virus.
Huawei LI ; Jifei YANG ; Dengke BAO ; Jie HOU ; Yubao ZHI ; Yanyan YANG ; Pengchao JI ; Enmin ZHOU ; Songlin QIAO ; Gaiping ZHANG
Journal of Veterinary Science 2017;18(3):307-316
A simple and rapid immunochromatographic test strip incorporating a colloidal gold-labeled recombinant Nsp7 antigen probe was successfully developed for the detection of anti-porcine reproductive and respiratory syndrome virus (PRRSV) antibodies in swine. Recombinant Nsp7 protein of PRRSV labeled with colloidal gold was dispensed on a conjugate pad for use as the detector. Staphylococcal protein A and purified porcine anti-Nsp7 antibodies were blotted on a nitrocellulose membrane to form test and control lines, respectively. A comparison of the strip with standard diagnostic tests, enzyme-linked immunosorbent assays and immunoperoxidase monolayer assay, was also performed. The immunochromatographic test strip was shown to be of high specificity and sensitivity. Furthermore, the strip assay is rapid and easy to perform with no requirement for professional-level skills or equipment. It is suggested that the immunochromatographic test strip can be used to quickly and accurately detect PRRSV antibody and to be suitable for diagnostic purposes in the field.
Antibodies*
;
Collodion
;
Colloids
;
Diagnostic Tests, Routine
;
Enzyme-Linked Immunosorbent Assay
;
Gold Colloid
;
Immunochromatography
;
Membranes
;
Porcine Reproductive and Respiratory Syndrome*
;
Porcine respiratory and reproductive syndrome virus*
;
Sensitivity and Specificity
;
Staphylococcal Protein A
;
Swine
6.Elution of urinary proteins preserved on nitrocellulose membrane with heating.
Chinese Journal of Biotechnology 2015;31(9):1387-1392
The preservation of urinary proteins on a membrane plays a vital role in biomarker research, and the efficient elution of proteins preserved on nitrocellulose membrane (NC membrane) determines the application of this method. During the heating elution procedure, we raised the temperature to reduce the intense vortexing time, and kept gentle rotating while precipitation to prevent nitrocellulose reformation. We also used SDS-PAGE and LC-MS/MS to analyze the urinary proteins prepared by heating elution procedure, intense vortexing elution procedure and acetone precipitation method. There was no degradation of proteins prepared by heating elution procedure. Compared with proteins prepared by heating elution method and acetone precipitation method, the overlapping rates of the proteins was almost the same (92.6% versus 96.8%) and the ratios of CV values (< 20%) of the proteins were both high (85.2% and 94.4%). The heating elution procedure achieved good technical reproducibility, and was much simpler and more efficient than the previous one. It can facilitate the application of the preservation of urinary proteins on membrane.
Acetone
;
Biomarkers
;
urine
;
Chromatography, Liquid
;
Collodion
;
Electrophoresis, Polyacrylamide Gel
;
Hot Temperature
;
Humans
;
Proteins
;
isolation & purification
;
Reproducibility of Results
;
Tandem Mass Spectrometry
;
Urine
;
chemistry
7.Comparison of two urinary protein preparation methods: nitrocellulose membrane preservation and acetone precipitation.
Xiaorong WANG ; Xundou LI ; Lulu JIA ; Youhe GAO
Chinese Journal of Biotechnology 2014;30(6):982-989
Nitrocellulose membrane based urinary protein preservation method is simple, fast and economic, but its advantage over the traditionally used acetone precipitation method is still unclear. In this work, we prepared urinary proteins by the two methods by LC-MS/MS. Then we used protein spectra counts to assess the reproducibility of the two methods. Proteins identified by the two methods were almost the same in number, spectral count distribution and distribution of coefficients of variation value. In conclusion, nitrocellulose membrane method is generally the same as acetone precipitation method. It can be used for large scale preservation of clinical urine samples.
Acetone
;
Chromatography, Liquid
;
Collodion
;
Humans
;
Mass Spectrometry
;
Proteins
;
isolation & purification
;
Reproducibility of Results
;
Tandem Mass Spectrometry
;
Urine
;
chemistry
8.Fatigue resistance, debonding force, and failure type of fiber-reinforced composite, polyethylene ribbon-reinforced, and braided stainless steel wire lingual retainers in vitro.
Dave Lie Sam FOEK ; Enver YETKINER ; Mutlu OZCAN
The Korean Journal of Orthodontics 2013;43(4):186-192
OBJECTIVE: To analyze the fatigue resistance, debonding force, and failure type of fiber-reinforced composite, polyethylene ribbon-reinforced, and braided stainless steel wire lingual retainers in vitro. METHODS: Roots of human mandibular central incisors were covered with silicone, mimicking the periodontal ligament, and embedded in polymethylmethacrylate. The specimens (N = 50), with two teeth each, were randomly divided into five groups (n = 10/group) according to the retainer materials: (1) Interlig (E-glass), (2) everStick Ortho (E-glass), (3) DentaPreg Splint (S2-glass), (4) Ribbond (polyethylene), and (5) Quad Cat wire (stainless steel). After the recommended adhesive procedures, the retainers were bonded to the teeth by using flowable composite resin (Tetric Flow). The teeth were subjected to 10,00,000 cyclic loads (8 Hz, 3 - 100 N, 45degrees angle, under 37 +/- 3degrees C water) at their incisoproximal contact, and debonding forces were measured with a universal testing machine (1 mm/min crosshead speed). Failure sites were examined under a stereomicroscope (x40 magnification). Data were analyzed by one-way analysis of variance. RESULTS: All the specimens survived the cyclic loading. Their mean debonding forces were not significantly different (p > 0.05). The DentaPreg Splint group (80%) showed the highest incidence of complete adhesive debonding, followed by the Interlig group (60%). The everStick Ortho group (80%) presented predominantly partial adhesive debonding. The Quad Cat wire group (50%) presented overlying composite detachment. CONCLUSIONS: Cyclic loading did not cause debonding. The retainers presented similar debonding forces but different failure types. Braided stainless steel wire retainers presented the most repairable failure type.
Adenine
;
Adhesives
;
Animals
;
Carbamates
;
Cats
;
Collodion
;
Composite Resins
;
Deoxycytidine
;
Drug Combinations
;
Fatigue
;
Humans
;
Incidence
;
Incisor
;
Organophosphonates
;
Periodontal Ligament
;
Polyethylene
;
Polyethylenes
;
Polymethyl Methacrylate
;
Quinolones
;
Recurrence
;
Retention (Psychology)
;
Silicones
;
Splints
;
Stainless Steel
;
Thiazoles
;
Tooth
;
Elvitegravir, Cobicistat, Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination
9.Prevention of venous thromboembolism with enoxaparin in bariatirc surgery.
Journal of the Korean Surgical Society 2013;84(5):298-303
PURPOSE: Venous thromboembolism (VTE) after bariatric surgery is a significant cause of morbidity and mortality. Current modalities of thromboprophylaxis include subcutaneous injection of unfractionated or low-molecular-weight heparin (LMWH), pneumatic compression, elastic stockings, and inferior vena cava filters. Despite universal agreement on the need for thromboprophylaxis, no clear consensus has been reached regarding the best regimen and treatment duration of bariatric surgery. METHODS: From April, 2009 to December, 2011, we performed 200 bariatric surgery (191 with primary intent, 9 with revisional intent). There was no history of VTE prior to surgery. Clexane therapy was done with 4000 U SQ once daily for 2 weeks to the day before surgery. Development of VTE was assessed by direct interview, physical examination in out-patient clinic, and phone calls to patients for history taking if needed. The history taking was presented in questionnaire format. The patients were asked to state their symptoms of VTE by answering the questionnaire. The patients were followed up for a minimum of 6 months after surgery to determine the incidence of clinical VTE. RESULTS: Two-week Clexane therapy was completed in 193 patients. Clexane was stopped in 5 due to surgical related complications (4 bleeding, 1 reoperation due to leak), in 2 due to Clexane related complications (1 epistaxis, 1 metrorrhagia). Follow-up of out-patient clinic were 68%, those who could follow up by telephone were 89%. There was no evidence of VTE. CONCLUSION: A 2-week VTE prophylaxis regimen using LMWH is simple, effective and associated with a low incidence of complications.
Bariatric Surgery
;
Collodion
;
Consensus
;
Enoxaparin
;
Epistaxis
;
Follow-Up Studies
;
Hemorrhage
;
Heparin, Low-Molecular-Weight
;
Humans
;
Incidence
;
Injections, Subcutaneous
;
Outpatients
;
Physical Examination
;
Surveys and Questionnaires
;
Reoperation
;
Stockings, Compression
;
Telephone
;
Vena Cava Filters
;
Venous Thromboembolism
10.Denaturing Gradient Gel Electrophoresis for Detection of Bacterial Population and Diversity in Amniotic Fluids and Neonatal Gastric Fluids.
Young Don KIM ; Sun Nyoung YU ; Seong Chol KIM ; Soon Cheol AHN
Neonatal Medicine 2013;20(2):189-198
PURPOSE: Intra-amniotic infection (IAI) is often polymicrobial, and the 16S rDNA PCR assay has a major limitation that its interpretation is difficult in the presence of multiple 16S rDNAs. Denaturing gradient gel electrophoresis (DGGE) can overcome this limitation by separating PCR products based on sequence. We performed the DGGE analysis to investigate bacterial prevalence and diversity in amniotic fluids from pregnant women with preterm births and gastric fluids from their newborns. METHODS: DNA was extracted from bacterial cells in amniotic fluid (AF) and gastric fluid (GF) and was amplified with universal 16S rDNA primers. For DGGE analysis, the PCR products were loaded onto polyacrylamide gels that were made with denaturing gradients. RESULTS: Bacterial 16S rDNA was detected by PCR from all AF and GF samples. The bacterial species in AF samples were the following: Lactobacillus reuteri (87.0%), uncultured Enterococcus species (65.2%), Ureaplasma urealyticum (13.0%), and Enterococcus faecalis (4.3%). The bacterial species in GF samples were the following: Lactobacillus reuteri (95.2%), uncultured Enterococcus species (42.9%), and Ureaplasma urealyticum (4.8%). Two or more species were identified from 69.6% of AF and 47.6% of GF samples. CONCLUSION: We suggest that DGGE analysis allows improved understanding of microbial diversity and community in AF and GF.
Acrylic Resins
;
Amniotic Fluid
;
Collodion
;
Denaturing Gradient Gel Electrophoresis
;
DNA
;
DNA, Ribosomal
;
Enterococcus
;
Enterococcus faecalis
;
Female
;
Gels
;
Humans
;
Infant, Newborn
;
Infant, Premature
;
Lactobacillus reuteri
;
Polymerase Chain Reaction
;
Pregnant Women
;
Premature Birth
;
Prevalence
;
Ureaplasma urealyticum

Result Analysis
Print
Save
E-mail