Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report / 中国医学科学杂志(英文版)

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.

Development of a colloidal gold-based immunochromatographic strip for rapid detection of Rice stripe virus / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

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.

A Case of Self-healing Collodion Baby / 대한피부과학회지

No abstract available.

Preparation and immunogenicity of influenza virus-like particles using nitrocellulose membrane filtration

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.

Development of an immunochromatographic strip for detection of antibodies against porcine reproductive and respiratory syndrome virus

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.

Elution of urinary proteins preserved on nitrocellulose membrane with heating / 生物工程学报

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.

Comparison of two urinary protein preparation methods: nitrocellulose membrane preservation and acetone precipitation / 生物工程学报

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.

Global trends in health equity policy: lessons from experiences in the UK, the Netherlands, Sweden, and the World Health Organization

Health equity is not just concerned with health care; rather, it is an issue of fairness and social justice. Equity-oriented health policies have increasingly been recognized as important public health issues for the last decades. This study investigates the blueprints for health equity policy that have been made in several developed countries or international organizations. From the late 1990s, national committees in the UK, the Netherlands, and Sweden have proposed comprehensive policies to strengthen health equity. In addition, the World Health Organization and its European regional office have developed policies for their member countries. Several lessons can be drawn from a review of the major blueprints: 1) setting attainable and quantitative targets, 2) action across all the social determinants of health, not just health care services, 3) giving the best start in early life for all children, 4) building equity-oriented universal health care systems, 5) political commitment, 6) participation and democratic decision making at the local level, and 7) monitoring and evaluation of health inequalities and their determinants.

The current state of dyslipidemia in Korean children and adolescents and its management in clinical practice

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.

Toward a universal influenza vaccine: from the perspective of protective efficacy

No abstract available.

Cardiopulmonary resuscitation update

Sudden cardiac arrest is a growing medical issue in developed countries. Annually, more than 25,000 out-of-hospital cardiac arrests (OHCA) occur in Korea. Only 3% of victims with OHCA discharge alive from hospital and less than 1% of them survive neurologically intact. Major changes of recent guidelines for cardiopulmonary resuscitation (CPR) and emergency cardiac care includes modification of basic life support (BLS) sequence from A-B-C to C-A-B, an emphasis on minimally interrupted, high-quality chest compression, the introduction of chest compression-only CPR, and addition of integrated post-cardiac arrest care concept as the fifth chain in the Chain of Survival. Repetition of 2-minutes of CPR, rhythm check, and defibrillation if indicated is recommended as a universal algorithm during BLS. Defibrillation and drug administration including epinephrine should not be delayed to place an advanced airway during CPR. Important interventions during post-cardiac arrest care are comprised of the optimization of ventilation (arterial CO2 tension, 40 to 45 mmHg) and oxygenation (arterial O2 saturation, 94% to 98%), glucose control (blood glucose, 144 to 180 mg/dL), therapeutic hypothermia (body tem-perature, 32degrees C to 34degrees C) for unresponsive patients, and percutaneous coronary intervention for the patient with ST-segment elevation. Systemic approaches to increase public awareness of cardiac arrest and CPR, to spread CPR education to citizen, and to implement public access defibrillation are a prerequisite for improving survival from OHCA in the community. Effective advanced life support and integrated post-cardiac arrest care should be provided to increase neurologically intact survival among the patients resuscitated from cardiac arrest.

Shear bond strength of the three different kinds of resin cement on CAD/CAM ceramic inlay / 대한치과보철학회지

PURPOSE: The purpose of this study was to evaluate the bond strengths between the latest CAD/CAM ceramic inlay and various resin cements which are used primarily for esthetic restoration. MATERIALS AND METHODS: Cylindrical ceramic blocks(Height: 5 mm, diameter: 3 mm) were fabricated by using Cerec3 and bonded on the dentin of the ninety extracted caries-free molars using three different kinds of resin cement(Unicem(R), Biscem(R), and Variolink II(R)) according to the manufacturer's instructions. Ninety specimens were divided into 3 groups according to three different kinds of resin cement. Half of each group were conducted thermocycling under the conditions of the 5 - 55degrees C, 5,000 cycle but the other half of them weren't. All specimens were kept in normal saline 37degrees C, for 24 hours before measuring the bond strength. The shear bond strength was measured by Universal testing machine with a cross head speed of 0.5 mm/min. The results were analyzed statistically by t-test and one-way ANOVA. RESULTS: Unicem(R) group showed the highest shear bond strength despite a slight decline by thermocycling. The shear bond strength of Unicem(R) group and ValiolinkII(R) group were significantly influenced by thermocycling, whereas Biscem(R) group was not influenced (P<.05). There were no significant differences in the bond strength between the three groups without thermocycling, but there was significant differences between Unicem(R) group and Valiolink II(R) group with thermocycling(P<.05). CONCLUSION: It has been shown to be clinically effective when the self-adhesive resin cements Unicem(R) and Biscem(R) were used instead of the etch-and-rinse resin cement Valiolink II(R) during the bonding of CAD/CAM ceramic inlay restorations with teeth.

Comparison of the retention of the full veneer casted gold crowns with varying convergence angle, crown length and dental cements / 대한치과보철학회지

PURPOSE: The aim of this research was to establish the effect and variation in differing convergence angle and length of abutment on the retention of full veneer casted gold crown. MATERIALS AND METHODS: Two different length,5 mm and 10 mm in height with convergence angles of 5, 10, 15 and 25 degrees crowns were fabricated. Cementation was done using cements; zinc phosphate cement (Fleck's zinc phosphate cement), resin-modified glass ionomer cement (Vitremer) and resin cement (Panavia 21). These were tested for tensile force at the point of separation by using Instron Universal Testing Machine. Statistical analysis was done by SAS 6.04 package. RESULTS: In all cements the mean retention decreased with significant difference on increase of convergence angle (P<.05). Increase in every 5 degree-convergence angel the retention rate decreased with resin-modified glass ionomer cement of 15.9% and resin cement of 14.8%. With zinc phosphate cement, there was largest decreasing rate of mean retention of 25.5% between convergence angles from 5 degree to 10 degree. When the crown length increased from 5 mm to 10 mm, the retention increased with the significant difference in the same convergence angle and in all types of cement used (P<.05). CONCLUSION: The retention was strongly dependent on geometric factors of abutment. Much care is required in choosing cements for an optimal retention in abutments with different convergence angles and crown lengths.

A Case of Systemic Lupus Erythematosus Occurring after H1N1 Influenza Vaccination / 대한내과학회지

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.

Overview of healthcare system in North Korea

In this study, we analyzed the healthcare system of North Korea using Kleczkowski's model which categorizes national healthcare infrastructure into five components: health resources, organization, healthcare delivery system, economic support, and management. It was found that the healthcare system in North Korea, which provides clinical medicine, Koryo medicine and preventive medicine, is constituted of a physician system of independent geographic sectors and centralized delivery system while maintaining free universal health coverage. These systems are all managed by the government and the People's Committee Party. However, North Korea has been confronted with severe economic difficulties since the 1990s, such that we question whether the healthcare system has been able to function properly despite of the lack of resources in general throughout the country.

Resilience of Children Expressed in Films and Fictional Stories

Psychological resilience in children preventing them from being overwhelmed by traumatic events and nurture their healthy development is universal and powerful. Movies about fairy tales provide children with the notion of the existence of the power and various manifestations. Even though the traumatic event affects the development of the child, with a good supporting system and by providing healthy internal and external factors to reconstruct the event, the traumatized child may accept the event objectively, develop the healthier part of the ego, and even sublimate the traumatic events. As the children participate in movies or plays, several protectors can be devised. The child prepares the role under a "promise" of virtual reality, performs the role recognizing that the traumatic event is not real, and returns to real life as the role or play ends. When these protectors are provided, it is considered that resilience can function properly and the role does not have a negative influence on the development of a child.

A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?

Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10 months of age have been reported. Here, we describe an 8-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. He had no major health problems over the course of 8 years of follow-up, except for mild mental/motor retardation, ichthyosis, facial dysmorphic features and limb anomalies. Based on these features, we suggest that because Neu-Laxova syndrome represents a heterogeneous phenotype, our case may be a milder variant of this syndrome or a new genetic entity.

Fatigue resistance, debonding force, and failure type of fiber-reinforced composite, polyethylene ribbon-reinforced, and braided stainless steel wire lingual retainers in vitro / 대한치과교정학회지

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.

Denaturing Gradient Gel Electrophoresis for Detection of Bacterial Population and Diversity in Amniotic Fluids and Neonatal Gastric Fluids

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.

Peel strength of denture liner to PMMA and polyamide: laser versus air-abrasion

PURPOSE: This study investigated the effect of laser parameters and air-abrasion on the peel strength of silicon-based soft denture liner to different denture resins. MATERIALS AND METHODS: Specimens (N=180) were prepared out of three different denture base resins (Rodex, cross-linked denture base acrylic resin; Paladent, heat-cured acrylic resin; Deflex, Polyamide resin) (75 mm x 25 mm x 3 mm). A silicon-based soft denture liner (Molloplast B) was applied to the denture resins after the following conditioning methods: a) Air-abrasion (50 microm), b) Er,Cr:YSGG laser (Waterlase MD Turbo, Biolase Technology) at 2 W-20 Hz, c) Er,Cr:YSGG laser at 2 W-30 Hz, d) Er,Cr:YSGG laser at 3 W-20 Hz, e) Er,Cr:YSGG laser at 3 W-30 Hz. Non-conditioned group acted as the control group. Peel test was performed in a universal testing machine. Failure modes were evaluated visually. Data were analyzed using two-way ANOVA and Tukey's test (alpha=.05). RESULTS: Denture liner tested showed increased peel strength after laser treatment with different parameters (3.9+/-0.4 - 5.58+/-0.6 MPa) compared to the control (3.64+/-0.5 - 4.58+/-0.5 MPa) and air-abraded groups (3.1+/-0.6 - 4.46+/-0.3 MPa), but the results were not statistically significant except for Paladent, with the pretreatment of Er,Cr:YSGG laser at 3 W-20 Hz. Polyamide resin after air-abrasion showed significantly lower peel strength than those of other groups (3.1+/-0.6 MPa). CONCLUSION: Heat-cured acrylic resin, PMMA, may benefit from Er,Cr:YSGG laser treatment at 3 W-20 Hz irradiation. Air-abrasion of polyamide resins should be avoided not to impair their peel bond strengths to silicon-based soft denture liners.