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.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
5.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
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.A Case of Systemic Lupus Erythematosus Occurring after H1N1 Influenza Vaccination.
Seong Min JO ; Jong Ho SHIN ; Ki Tae BANG ; Jin Uk JEONG ; Nak Min KIM ; Ji Wook CHOI ; Ju Hun KIM
Korean Journal of Medicine 2013;84(2):295-298
The recent worldwide outbreak of H1N1 has led to the universal administration of H1N1 influenza vaccination, including in South Korea. Several complications have been reported with use of H1N1 influenza vaccine, but systemic lupus erythematosus (SLE) has not been reported as a complication until now. Here, we report a case of SLE occurrence after H1N1 influenza vaccination. A 17-year-old girl who had not been diagnosed with SLE was hospitalized with fever, myalgia, and arthralgia after H1N1 influenza vaccination. Laboratory tests revealed increased levels of antinuclear antibody and anti-ds-DNA antibody, and decreased levels of C3 and C4 as well as proteinuria. The pathological findings confirmed a diagnosis of lupus nephritis. The patient was treated with high-dose corticosteroid and hydroxychloroquine. This is the first report of SLE following H1N1 influenza vaccination in South Korea.
Antibodies, Antinuclear
;
Arthralgia
;
Collodion
;
Fever
;
Humans
;
Hydroxychloroquine
;
Influenza A Virus, H1N1 Subtype
;
Influenza Vaccines
;
Influenza, Human
;
Lupus Erythematosus, Systemic
;
Lupus Nephritis
;
Proteinuria
;
Republic of Korea
;
Vaccination
9.The current state of dyslipidemia in Korean children and adolescents and its management in clinical practice.
Annals of Pediatric Endocrinology & Metabolism 2013;18(1):1-8
Cardiovascular disease (CVD) is a leading cause of death worldwide including Korea. The risk factors of CVD are known as positive family history of early CVD, obesity, hypertension, diabetes, and dyslipidemia. Among those, dyslipidemia is one of modifiable risk factors. Dyslipidemia starts in childhood and progress to adulthood. Furthermore, dyslipidemia cause atherosclerosis and is closely related to other CVD risks. On the rationale that early identification and control of pediatric dyslipidemia will reduce the risk and severity of CVD in adulthood, the National Heart, Lung, and Blood Institute guidelines expanded to universal screening for lipid levels. However, there was no guideline for lipid screening and management in Korean children and adolescents yet. This review deals with the rationale of early identification and control of pediatric dyslipidemia along with the current Korean status of pediatric dyslipidemia. This review also deals with how to screen, diagnosis, and treatment of pediatric dyslipidemia.
Adolescent
;
Atherosclerosis
;
Cardiovascular Diseases
;
Cause of Death
;
Child
;
Collodion
;
Dyslipidemias
;
Humans
;
Hypertension
;
Korea
;
Mass Screening
;
National Heart, Lung, and Blood Institute (U.S.)
;
Obesity
;
Risk Factors
10.On Textual and Contextual Position of The Ophthalmological Treatise of Bodhisattva Nagarjuna.
Korean Journal of Medical History 2013;22(1):217-274
Medical knowledge in India began to be introduced to China in earliest from the Later Han Dynasty period to the times of Wei-Qin and South & North Dynasties. This is proved by many Buddhist medical books appeared in those days. Of the contents of Indian medicine, the theory of four major elements affected Chinese medicine more than did the theory of body fluids. Based on the theory of four major elements that was began to be introduced in Fu shuo fu yi jing, an attempt to establish a new medical system was made in Zhou hou bai yifang written by Tao Hong-jing and Sun Si-miao who tried to develop etiology further but could not achieve any great outcomes. Unlike the foregoing situation, Indian medicine aroused a large echo in China in the field of ophthalmology with ophthalmological knowledge mentioned in Susrutasamhita and 'Jin-zhen-shu'(cataract couching) introduced as a surgical treatment of cataract. The Susrutasamhita which is one of the three major texts of Indian medicine contains additional information on surgical operations not introduced in the Carakasamhita. The technique of cataract surgery was particularly popular in the Tang and Song dynasty periods in China under the name Long shu pu sa yan lun(The Ophthalmological Treatise of Bodhisattva Nagarjuna) or Long shu lun and was even designated as a subject to educate medical officers. While the original text of Long shu pu sa yan lun was not handed down, the first testimony that show the trace of the introduction of this text into China was the Tian zhu jing lun yan mentioned in Wai tai mi yao(Arcane Essential from the Imperial Library) written by Wang Tao. Long shang dao ren who was mentioned as the compiler of the book is assumed to be Long shu. Although Tian zhu jing lun yan introduced anatomical knowledge about the eyeball that could have not been in the traditional Chinese medicine, this book has only limited quantity of information in this regard. Thereafter, Tai ping sheng hui fang(Holy Prescriptions for Universal Relief) compiled by a national agency at the beginning of the Song Dynasty period introduced Long shu pu sa yan lun without clear indication of the reference. Contemporary with this book, many ophthalmological books such as Mi chuan yan ke long mu lun(Longmu's Ophthalmology Secretly Handed Down) were published. As Chinese culture was spreading out into surrounding countries, medical knowledge was also introduced to Korean peninsula and Japan. The ophthalmological knowledge contained in Long shu pu sa yan lun was also reflected and some parts of it were introduced in I shin bo in Japan. Based on the policy decision of King Sejong, the fourth king of Joseon Dynasty, large scaled promoting projects of medical knowledge was established. It is notable that the Ui bang ryu chwi compiled as a result of the synthesis of the medical treatises available at that time initiated by King Sejong contained a considerable part of Long shu pu sa yan lun in reedited form that had already passed into oblivion in China. The intellectuals in Joseon Dynasty who participated in the compilation of Ui bang ryu chwi not only indicated that Long shu pu sa yan lun was a medical text published in the times of Wei-Qin and South & North Dynasties in China but also clearly indicated the textual reference and left the original text for later generation without modifying the contents. According to the Ui bang ryu chwi, the Long shu pu sa yan lun indicated that the core causes of eye diseases were heat, winds, and three body fluids(tridosa) and contained the analyses of symptoms, related treatments, and several analyses of wrong treatments. In addition, Long shu pu sa yan lun explained diverse eye diseases through more than 30 medical treatments. In particular, this book accurately described golden needle acupuncture for treatment of a Nei-zhang understood to be cataract. Therefore, this book is a significant textual record in the history of ophthalmological medicine in East Asia. Along with the golden needle acupuncture which is a method of removing the crystalline lens in which white turbidity occurred by stabbing the eyeball with a needle, traces of Indian medicine that had been already lost in China were clearly indicated in Long shu pu sa yan lun kept in the Ui bang ryu chwi. In particular, the book indicates that the eyes were directly correlated with the brain and that to treat the internal disorder, treating the brain that lost stability due to heat and bodily wind was indispensable; these are the traces of Indian influence. This textual source demonstrates a case of knowledge exchange in field of medicine with concrete cases of the encounter and clash between the standpoints of understanding human body.
Acupuncture
;
Asian Continental Ancestry Group
;
Brain
;
Cataract
;
China
;
Collodion
;
Dental Cavity Lining
;
European Continental Ancestry Group
;
Eye
;
Eye Diseases
;
Hand
;
Hot Temperature
;
Human Body
;
Humans
;
India
;
Insecticides
;
Japan
;
Lens, Crystalline
;
Medicine, Chinese Traditional
;
Needles
;
Nitriles
;
Ophthalmology
;
Prescriptions
;
Pyrethrins
;
Singing
;
Solar System
;
Troleandomycin
;
Wind

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