A novel α Globin Gene Cluster Duplication, αααα380 Heterozygous ß0-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype.

To assess the effectiveness of three-level prevention and control of thalassemia, we routinely collect samples from transfusion-dependent individuals and perform genetic analysis. Here, we report on a 10-year-old boy requiring blood transfusions with routine thalassemia gene test results of αα/αα, and ßCD41/42/ßN, but he had thalassemia-like changes in his appearance and a high need for frequent blood transfusions, suggesting a case of thalassemia major in childhood. Given these equivocal results, samples from the family members were collected for further analysis. A multiplex ligation-dependent probe amplification assay was used to detect a multicopy number variant of the α globin gene cluster in the proband. The variant was detected as a long fragment repeat of 380 Kb using CNV assay technique, which contains the entire α globin gene cluster, describing it as αααα380/αα. Analysis of family members suggested that both the brother and mother of the proband carried the variant, and both MCV and MCH values were reduced in carriers. Individuals carrying multiple copy number variants of the α globin gene cluster exist in the population. Individuals carrying such variants who are also heterozygous for the ß0 thalassemia variant result in an imbalance in the α/ß chain ratio, potentially leading to the creation of individuals with a severe anemia genotype. Most secondary prevention and control laboratories currently do not include variants with increased α gene copy number in their testing, which is one of the blind spots of prevention and control efforts. In order to provide more accurate genetic counseling to test subjects, especially in regions with high rates of thalassemia carriage, testing laboratories should pay attention to individual genotype-phenotype matches to avoid the under-detection of such variants.

The population incidence of thalassemia gene variants in Baise, Guangxi, P. R. China, based on random samples.

OBJECTIVE: Thalassemia is a monogenic genetic disorder with a high prevalence in populations in the southern region of China. The thalassemia gene prevalence rate in the Baise population in China is high, and several rare gene variants have been detected in the population of this region during routine testing by our study group. To accurately reveal the thalassemia gene variants carried by the population in Baise, and to provide a basis for the formulation of thalassemia prevention and control policies in the region, we conducted a more comprehensive study in a randomly selected population. RESULTS: In all, 4,800 randomized individuals were recruited for testing from Baise, and the detection of hot spot thalassemia genetic variants were performed by Gap-PCR and PCR-RDB methods, combined with the relative quantification of homologous fragments and AS-PCR to expand the detection range. The prevalence of thalassemia variants in this population was 24.19%, among which 16.69% of individuals carried α-thalassemia gene variants alone, 5.62% carried ß-thalassemia gene variants alone, and 1.88% carried both variants. CONCLUSIONS: The use of positive primary screening combined with hot spot gene variant detection alone can result in a certain degree of missed detection. In the prevention and control of thalassemia in the region, testing institutions need to pay attention to the detection of rare thalassemia gene variants such as αααanti4.2, αααanti3.7, -α2.4, -α21.9, ß-50, ß-90, and ßIVS-II-5, to provide more accurate genetic counseling advice to subjects.

Third-generation sequencing: A novel tool detects complex variants in the α-thalassemia gene.

OBJECTIVE: Thalassemia is a monogenic disorder with a high carrier rate in the southern region of China. Most laboratories currently follow the protocol of testing hematologic indicators in individuals with positive hematologic indicators and then using the hot-spot mutation test kit. A novel thalassemia gene test is performed if there is a mismatch between the hematology and hot-spot mutation test results. However, due to the large population in southern China, some individuals carry complex α-globin gene cluster (CAGC) variants in NG_000006.1, which are difficult to detect using conventional thalassemia genetic analysis protocols, leading to missed or false genetic test results for individuals carrying these complex α-globin gene cluster variants. When an individual carries a complex α-thalassemia gene variant, and an individual carries a ß- thalassemia gene variant, there may be clinical symptoms that might complicate clinical consultation and prenatal diagnosis if not accurately detected. Third-generation sequencing (TGS) enables long-read single-molecule sequencing with high detection accuracy, and long-length DNA chain reads in high-fidelity reads mode. TGS can be used to analyze high homology and rich GC DNA sequences. RESULTS: Four samples that showed abnormalities in the thalassemia genetic test were studied using TGS, revealing that they carried genotypes with complex α-globin gene cluster variants, one of which was a complex variant αα anti3.7 α anti3.7 α 17.2. CONCLUSIONS: TGS detects complex α-globin gene cluster variants. This study may provide a reference protocol for the use of TGS for the detection of complex α-globin gene cluster variants. TGS can reveal individuals with complex α-thalassemia genotypes in the population and improve the accuracy of genetic counseling and prenatal diagnosis.

Identification of the ß thalassemia allele ß-50 and analysis of the hematology data of carriers in a southern Chinese population.

During a routine test, we identified a 38-year-old man who had a positive hematology screening result but was negative for hot spot variants of his thalassemia gene. Further analysis identified ß-50 (HBB: c.-100G>A). It was first suggested that ß-50 was a ß+ -thal allele, and some research groups suggested this allele was a silent ß-thal allele. To fully understand the hematological phenotype of the ß-50 allele, we screened for individuals carrying ß-50 in the general population and performed hematology analysis on these carriers. A real-time PCR detection system was designed to verify samples carrying ß-50 . Twenty-one thousand samples and 43 pedigree samples were screened, and 86 ß-50 carriers were detected. We performed hematological analysis on 65 individuals older than 3 years who had normal serum ferritin and analyzed the data. A total of 34.62% of the ß-50 /ßN individuals had mean cellular volume (MCV) or mean cellular hemoglobin (MCH) values slightly lower than the positive cutoff value of screening; the ß-50 carriers' Hb A2 value was slightly elevated. According to the test results, ß-50 carriers have slight changes in hematology parameters, including slight decreases in MCV and MCH and slight increases in Hb A2 ; however, these effects do not reach the degree of traditional ß+ alleles. Females with genotype ß-50 /ß0 show a degree of decline in hematological indicators during pregnancy. Therefore, we should describe ß-50 as a ß++ thalassemia allele, and identification of ß-50 can explain slight changes in hematological indicators in some carriers.

Identification of Three Families Carrying Hb Anti-Lepore Hong Kong Variant in Guangxi, China, and Analysis of Their Hematological Data.

Thalassemia is a single-gene genetic disease with a high incidence in southern China. To prevent and control thalassemia, the most commonly used procedure is hematology testing and hemoglobin (Hb) analysis, followed by thalassemia gene analysis in positive individuals. During routine testing for thalassemia, we identified three individuals with Hb A2 levels of >10.0%. The results of conventional thalassemia gene analysis of these individuals cannot explain this feature, and there is a possibility of carrying novel thalassemia gene variants. Therefore, we collected samples from these three families for further analysis of the thalassemia gene. The research team used multiplex ligation-dependent probe amplification (MLPA) to analyze the three families, and the analysis results showed that their molecular biological characteristics were similar to those of Hb Anti-Lepore Hong Kong (NG_000007.3: g.63210_70621dup). Then, gap-polymerase chain reaction (gap-PCR) and sequencing methods were used for verification, and it was confirmed that the variant carried by these three families was indeed Hb Anti-Lepore Hong Kong. Three individuals carrying both the - -SEA (Southeast Asian) and Hb Anti-Lepore Hong Kong variants were also detected in this study, and these individuals had slightly lower Hb A2 results than those carrying Hb Anti-Lepore Hong Kong alone. Further analyses revealed that the carrier rate of this variant is about 0.03% in the population, thus identifying it as a rare variant.

Molecular diagnosis of sex chromosome mosaics in fetal amniotic cells.

ABSTRACT: Mosaicism can be observed in karyotype analyses of amniotic fluid cells. Differentiating between true mosaicism and pseudomosaicism and determining mosaic proportions can help avoid misjudgments by doctors and effectively reduce mental and physical harm to pregnant women. However, the detection of mosaicism and mosaic proportions via karyotype analysis and fluorescence in situ hybridization (FISH) is extremely complex. We have developed a novel approach, "segmental duplication quantitative fluorescent PCR" (SD-QF-PCR), to detect mosaicism and mosaic proportions.In this study, twenty control samples and fourteen mosaic samples were tested by first-line karyotype analysis; by second-line karyotype analysis, SD-QF-PCR and FISH were used to reassess fetal sex chromosome mosaicism and mosaic proportions.Detection of the 20 control samples by second-line karyotype analysis via FISH and SD-QF-PCR showed normal and consistent results. Among the 14 mosaic samples, the numbers of samples showing true mosaicism and pseudomosaicism detected by the three methods were 6 and 8, respectively.Our study demonstrates that SD-QF-PCR can be used as a complementary method to traditional cytogenetic analysis of amniotic fluid mosaics and has clinical application value.

Parentage analysis using genome-wide high-density SNP microarray.

OBJECTIVE: Parentage analysis is a technology that uses genetic methods to verify or exclude relationships between individuals. STR technology is often used in parentage analysis. We received three sets of samples from three families. Each set of samples consisted of a male individual and a female individual. Their test requirements were meant to determine whether they were a paternity relationship, a sibling relationship, or grandparent-grandchild relationship. However, only one STR locus mismatch was detected in each group. Other family members to assist in testing could not be identified; therefore, other methods were needed to assist in judgment. Using high-density SNP microarrays, we analyzed the feasibility of its application in paternity analysis. RESULTS: A total of 180 samples were tested, including 100 unrelated samples, and 74 samples from 30 families, and six samples from three families. The data were analyzed, grouped according to the chromosome of SNP, and the mismatching rate was counted. The total mismatching rate of SNP in unrelated individuals was 8-10 times higher than that of parent-child individuals. Individuals with a total mismatch rate of more than 5.3% were defined as individuals with no kinship, and the individuals with a total mismatch rate of less than 0.6% were defined as the individuals with a parent-child relationship. CONCLUSIONS: Through the use of high-density gene chips for analysis, we also completed an auxiliary analysis of the kinship of the three families. The gene chip is a better method for auxiliary analysis of the kinship between individuals.

The carriage rates of αααanti3.7, αααanti4.2, and HKαα in the population of Guangxi, China measured using a rapid detection qPCR system to determine CNV in the α-globin gene cluster.

OBJECTIVE: Our study group encountered a pregnant woman whose gene analysis of thalassemia was ß41-42/ßN; however, the patient was severely anemic and had a history of multiple blood transfusions. Further analysis showed that the individual carried the αααanti4.2. Our research group occasionally detected individuals with copy number variations of the α gene, including αααanti3.7, αααanti4.2, and HKαα, but these variations are not within the detection range of conventional gene detection for thalassemia. The purpose of this study was to determine the carriage rate of these α gene copy number variants in the population of southern Guangxi. RESULTS: We used the method of relative quantitative homologous fragments to analyze α1 and α2 genes. 23,900 samples were analyzed. A total of 201 individuals with αααanti3.7, αααanti4.2, and HKαα genes were identified. The carriage rates of these genes in southern Guangxi were 0.39%, 0.29% and 0.16%, respectively. We also collected positive samples from 18 families, and hematology data analysis confirmed that if these individuals carried the ß-thalassemia allele at the same time, would lead to further imbalance of the ratio of α-chain to ß-chain, and then produce varying degrees of anemia. CONCLUSIONS: The individuals carrying αααanti3.7, αααanti4.2, and HKαα genes suffer harms related to ß0 thalassemia, and these variations are not included in the detection range of conventional gene analysis reagents; therefore, these individuals are at risk. Prenatal diagnosis institutions could pay more attention to carriage of copy number variations of α-globin, so as to give more accurate prenatal advice to patients.

[Characteristics of Denitrifying Phosphorus Removal by A2/O-BAF at Low Temperatures].

Low C/N domestic sewage was treated by an A2/O-biological aerated filter (BAF) system at low temperatures (11-14℃). The characteristics of pollutant removal, the ratio of denitrifying phosphorus to nitrogen (ΔPO43-/ΔNO3-N) and effects of aeration flow and effective packing height on nitrification in BAF were studied. The results showed that when the average influent concentrations of COD, NH4+-N, TN and PO43- were 193.1, 58.6, 60.3 and 5.1 mg·L-1 respectively, their effluent concentrations were 46.3, 2.5, 13.4 and 0.3 mg·L-1 respectively, which met the first level A criteria specified in the discharge standard of pollutants for municipal wastewater treatment plant (GB 18918-2002). The linear fitting of ΔPO43-/ΔNO3--N was between 0.47 and 1.75. The normal distribution of mathematical statistics was applied-and the average standard deviation for ΔPO43-/ΔNO3--N were 1.20 and 0.29 respectively. When the aeration flows were 60 L·h-1 and 100 L·h-1, the effluent concentration of NH4+-N was less than 5.0 mg·L-1, corresponding to the effective packing heights in the BAF of 1.8 m and 1.0 m respectively. However, when the aeration flow was increased to 120 L·h-1, the air-water flow led to biofilm detachment, which caused the effluent concentration of NH4+-N to increase beyond 5.0 mg·L-1.

Engaging More Nurses in Cancer Preventive Care: Challenges and Opportunities.

EXECUTIVE SUMMARY: Nurse-led care is crucial to improving the effectiveness of cancer prevention, as demonstrated by research. However, barriers to nurse-led cancer preventive care are still prevalent. What are the challenges that impede nurses from providing effective preventive care? How can hospital leaders address these challenges to better engage nurses in preventive care? What should be the focal areas in terms of policy changes and training programs? This article explores those questions. We examine the difficulties nurses have encountered. We identify the barriers yet to be examined extensively. Finally, we propose that many barriers can be addressed through carefully designed nurses' training programs and substantial policy changes. Our data were collected from a Nurse Oncology Education Program survey that included questions on perceived oncology knowledge, current cancer-related preventive practices, and barriers to preventive practices. We identified the barriers for the nurse population studied and opportunities to overcome these barriers.

STARD-rapid screening for the 6 most common G6PD gene mutations in the Chinese population using the amplification refractory mutation system combined with melting curve analysis.

Dot-blot hybridization and high-resolution melting curve methods are used to detect G6PD gene mutations; however, the performance and throughput limitations of these methods hinder their use for screening large populations. For simple screening, we developed a novel approach called "Amplification Refractory Mutation System combined with Melting Curve Analysis (ARMS-MC)," which enables rapid and batch-based detection of the 6 most common G6PD mutations.In this method, we established 4 PCR reaction systems that can be used to detect the 6 most common G6PD mutations (c.95A>G, c.392G>T, c.871G>A, c.1024C>T, c.1376G>T, and c.1388G>A) in the Chinese population.The ARMS-MC method was evaluated with 174 cases of clinical G6PD-deficient samples, and the results were verified by direct sequencing at G6PD gene exons. The results showed that 170 samples had ≥1 of the 6 mutations, which accounted for 97.70% of all mutations. These results were consistent with the results of direct sequencing with 100% accuracy and specificity. Sequencing validation revealed other mutations in the 4 samples in which no mutation was detected by the ARMS-MC method.ARMS-MC provides a rapid, simple, inexpensive, and accurate screening method for detecting the most common G6PD mutations in Chinese people.

Identification of Three Types of α-Thalassemia Deletion, -α21.9, -α2.4, and - -THAI, and Their Frequencies, in One Family in the Population of Southern Guangxi Zhuang Autonomous Region, People's Republic of China.

Different types of deletional α-thalassemia (α-thal) have been reported by researchers in China. This study describes one family carrying -α21.9 (NG_000006.1: g.14373_36299delinsGGGAAGGGTGGGTGGGAATAACAGCTTTT), -α2.4 (NG_000006.1: g.36860_39251del) and - -THAI (Thailand) (NG_000006.1: g.10664_44164del) alleles in Guangxi Zhuang Autonomous Region, People's Republic of China (PRC), and reports the frequencies of these types in the population of this region. The proband was a 4-year-old girl, who screened positive for thalassemia, although the thalassemia genotype results were normal when screened using the routine kits. Samples of the proband's parents were also collected to perform further analyses. Two real-time gap-polymerase chain reaction (gap-PCR) systems were designed for separate detection of - -THAI and screening for -α21.9 and -α2.4. The genotype of the proband was -α21.9/-α2.4, and the two variants were inherited from her parents. In the frequency study, five - -THAI, four -α21.9 and 11 -α2.4 positive individuals were detected in the 3410 random samples. Thus, allele frequencies of -α21.9, - -THAI and -α2.4 in the population of southern Guangxi were determined as 0.059, 0.073 and 0.161%, respectively. This is the first report of an individual carrying the -α21.9/-α2.4 genotype, and the first report of the detection of -α21.9, -α2.4 and - -THAI in a single family. The total frequency for these alleles was 0.293% in southern Guangxi, suggesting that the thalassemia clinical center in this region should utilize a screening kit that allows detection of these types of deletions for a more comprehensive evaluation of thalassemia risk.

A Shared Decision-Making Tool to Prevent Substance Abuse: Protocol for a Randomized Controlled Trial.

BACKGROUND: Substance use disorder (SUD) affects over 20 million adults and costs over $700 billion annually in the United States. It is one the greatest health care challenges we face. OBJECTIVE: This research project seeks to enhance the standard practice of Screening, Brief Intervention, and Referral to Treatment (SBIRT) through a mobile solution easily incorporated into primary care that will promote shared decision making and increase referral and adherence to specialty care through continued follow-up care. METHODS: This research will conduct an Office of Management and Budget (OMB)-approved randomized controlled trial (RCT) in primary care and SUD specialty service providers. The RCT will recruit a total of 500 SUD patients. Recruited patients will be randomized into control and intervention arms. Both arms will take initial baseline and exit (30 days) surveys to evaluate self-reported substance use and specialty service utilization. The control arm patients will receive usual care. The intervention group patients will receive technology-enhanced SBIRT and a mobile follow-up program to track goals and substance use at home. The RCT tracks participants for 30 days after the primary care encounter. We will collect feedback from the patients during the 30 days and count the number of patients who use specialty care services in specialty care programs for tobacco, alcohol, and drug abuse (both from self-reporting and from the service providers). RESULTS: RCT and data collection are underway. We expect to report the data results in 2018. CONCLUSIONS: We expect that significantly more intervention group patients will receive specialty SUD care within 30 days following the SBIRT encounter at the primary care clinic compared to the control group. We also expect that the intervention group patients will report a greater reduction in substance use and a greater drop in Drug Abuse Screening Test and Addition Severity Index scores within 30 days.

Mutagenesis of PhaR, a Regulator Gene of Polyhydroxyalkanoate Biosynthesis of Xanthomonas oryzae pv. oryzae Caused Pleiotropic Phenotype Changes.

Polyhydroxyalkanoates (PHAs) are intracellular carbon and energy storage materials produced in various microorganisms under nutrient-limited conditions. PhaR is a regulatory protein involved in PHA synthesis. Xanthomonas oryzae pv. oryzae (Xoo) is one of the most important bacterial pathogens in rice and has PHA biosynthesis genes in its genome, but the biological function of phaR in Xoo is unknown. In this study, we investigated the effects of the mutagenesis of phaR gene in Xoo strain PXO99A. Compared to the wildtype, the PhaR gene knock-out mutant PXO99ΔphaR was hypermotile and showed decreased growth rates in both rich and limited nutrient media. PXO99ΔphaR also showed almost 75% decrease in extracellular polysaccharide (EPS) production. When inoculated in rice leaves by leaf-clipping method, PXO99ΔphaR displayed reduced virulence in terms of lesion length and bacterial multiplication compared with the wildtype strain. PXO99ΔphaR also showed enhanced hypersensitive response (HR) induction in the leaves of non-host Nicotiana benthamiana with elevated hpa1 gene expression. Introduction of a cosmid containing the phaR coding sequence restored the phenotypes of the mutant to those of the wildtype strain. These results suggest that PhaR gene is an important gene that affects multiple bacterial characteristics, including EPS production, growth rate, defense response induced harpin production and motility, related to its virulence in plant.

Low expression of trafficking protein particle complex 4 predicts poor prognosis in hepatocellular carcinoma.

Hepatocellular carcinoma (HCC) is one of the most common malignancies worldwide. Tumor recurrence and metastasis are major factors that contribute to the poor outcome of patients with HCC. However, it is difficult to predict the prognosis of hepatocellular carcinoma. Trafficking Protein Particle Complex 4 (Trappc4), is associated with tumorigenesis. The present study aimed to detect Trappc4 expression in HCC and its association with clinicopathological patient data. More importantly, this study reveals the relationship between Trappc4 and the prognosis of hepatocellular carcinoma. A total of 148 HCC tissues were assessed for expression of Trappc4 mRNA and protein with (reverse transcription polymerase chain reaction) RT-PCR (n=36), Western blotting (n=4) and immunohistochemistry (n=148), respectively. The data show that Trappc4 mRNA and protein are expressed at low levels in HCC tissues compared to adjacent tissues. Immunohistochemical analysis revealed that 148 cases of HCC showed different degrees of positive expression. Statistical analysis showed that expression of Trappc4 was associated with histological differentiation, TNM stage, and vascular invasion (P < 0.05), but did not correlate with the patient's age, gender, tumor size (P > 0.05). Most importantly, HCC patients with low expression of Trappc4 had shorter survival time compared to patients with high expression. Trappc4 might be involved in the pathogenesis of HCC and could be an important prognostic marker in HCC patients.

Effects of puerarin on H2O2-induced SH-SY5Y cell apoptosis / 中国药理学通报

Aim To investigate the neuroprotective effects of puerarin on H2O2-induced SH-SY5Y cell ap-optosis and the molecular mechanisms underlying the neuroprotective effects. Methods Neuron injury mod-el was established in vitro through H2O2-induced SH-SY5Y injury. MTT assay was performed to detect the effect of puerarin on H2O2-induced SH-SY5Y survival rates. Hoechst 33342 staining was used to observe the cell apoptosis. JC-1 staining was employed to detect the level of mitochondria membrane poential. Caspase-3 was determined by caspase-3 catalyze the substrate specificity Ac-DEVD-pNA. Caspase-9 was determined by caspase-9 catalyze the substrate specificity Ac-LE-HD-pNA. The effects of puerarin on the protein level of Bcl-2,Bax,p-Akt and Akt were determined by West-ern blot. Results The cell survival rate significantly increased after puerarin pretreatment compared with H2O2model group. Furthermore, puerarin pretreat-ment not only inhibited the decreasing of mitochondrial membrane potential,increasing of caspase-3, caspase-9 enzymatic activity and the expression of Bax,but also promoted the expression of p-Akt and Bcl-2, which was prevented by LY294002, an inhibitor of PI3K/Akt. Conclusion Puerarin can play a neuroprotective role for SH-SY5Y cell apoptosis induced by H2O2, maybe via activating PI3K/Akt signaling pathway.

Analysis of the risk factors, pathogenic bacteria and drug resistance of postoperative infection in patients with colorectal cancer / 新乡医学院学报

Objective To analyze the risk factors for postoperative infection of patients with colorectal cancer,and to investigate the distribution of pathogenic bacteria and drug resistance.Methods A total of 300 patients with colorectal cancer who underwent operation were selected from June 2013 to June 2017 in the Central Hospital of Tongchuan Mining Bureau,and the patients were divided into the infection group and the non-infection group according to the postoperative infection.The clinical data were compared between the two groups,and the risk factors for postoperative infection in colorectal cancer patients were analyzed by logistic regression.The total automatic bacterial culture apparatus was used for bacterial culture,and the drug sensitivity test was carried out by Kirby-Bauer.Results Among the 300 colorectal cancer patients,there were 61 cases of incision infection (infection group) and 239 cases without incision infection (non-infection group) after operation,the postoperative infection rate was 20.33％ (61/300).There were significant differences in the operation method,red blood cell counts,the levels of albumin,prealbumin and hemoglobin between the two groups (P ＜ 0.05);but there was no significant difference in sex,age,body mass index,diabetes mellitus history,abdominal surgery history,smoking history,drinking history,operation time,intraoperative bleeding volume,hospitalization time,indwelling time of urethral catheter,white blood cells and C-reactive protein levels between the two groups(P ＞ 0.05).Multiple factor logistic regression analysis showed that the decrease of albumin and prealbumin level was the independent risk factor for postoperative infection in patients with colorectal cancer (P ＜0.05).A total of 52 strains of pathogenic bacteria were detected in 61 cases of colorectal cancer combined with postoperative infection,including 38 strains of gram negative bacteria (73.08％),10 strains of gram positive bacteria (19.23％) and 4 strains of fungi (7.69％).Escherichia coli,Klebsiella pneumoniae,Enterobacter cloacae,Pseudomonas aeruginosa had high drug resistance to ampicillin,cefaclor,ceftriaxone,ceftizoxime,cefepime,cefoperazone,ceftazidime and ofloxacin;but they had low drug resistance to piperacillin,imipenem and amikacin.Conclusion The incidence of postoperative infection in patients with colorectal cancer is higher,the decrease of albumin and prealbumin is the independent risk factor for postoperative infection in patients with colorectal cancer.Gram-negative bacteria are the main pathogens of postoperative infection in patients with colorectal cancer and have high resistance to common antibiotics.

Development of evaluation methods for the approval and review of Intense pulsed light (IPL).

This Intense pulsed light (IPL) is skin therapy medical device to remove infection and lesion. The market size of IPL has increased because of increasing device users such as doctors, nurses, engineers, patients. Thus, the number of IPL approvals by Ministry of Food and Drug Safety (MFDS) has increased. However, since there are no standard and guideline for evaluation of IPL performance and safety, it is need to develop the evaluation method of IPL performance and safety for petitioners and examiners who are having difficulties in approval and review. In this study, the criteria and methods for scientific evaluation of safety and performance of IPL are proposed to support approval and review, and it is expected to enhance the international competitiveness of domestic medical device industry and patient safety. To develop the evaluation methods of IPL, first, the types and information of IPL have been collected and analyzed, and relative international and domestic standard and FDA guidance have been studied. Second, drawn test items, criteria and methods were verified at medical device testing institute. Finally, the guideline for evaluation of IPL performance and safety was reviewed through a consultative body composed of academic, industrial, institute, and government experts.

Rapid prenatal diagnosis of aneuploidy for chromosomes 21, 18, 13, X, and Y using segmental duplication quantitative fluorescent PCR (SD-QF-PCR).

BACKGROUND: In our previous studies, the rapid diagnosis of aneuploidy has been achieved using the segmental duplication molecular markers-based SD-QF-PCR technique. However, it is also insufficient due to the drawbacks including less detection loci and incompetence in single-tube detection. METHODS: In this paper, we developed 13 new segmental duplications as molecular markers, as well as designed 13 pairs of primers and 1 fluorescence-labeled universal primer, which could detect chromosome aneuploidies in one PCR tube. RESULTS: Two hundred and thirty samples were detected using SD-QF-PCR, the samples were collected from individuals with trisomy 21 (n=16); trisomy 18 (n=4); trisomy 13 (n=3); 45,X (n=3); 47,XXY (n=2); 47,XYY (n=2); suspected mosaic 46,XX/46,XY (n=2); and unaffected controls (n=198). CONCLUSIONS: The detection results of SD-QF-PCR were consistent with those of conventional karyotype analysis. SD-QF-PCR based on the newly developed segmental duplications enables the single-tube and multi-locus simultaneous detection on the number of chromosomes 13, 18, 21, X and Y. Therefore, this technique offers a new alternative for the diagnosis of chromosome aneuploidies.

A novel clinical decision support algorithm for constructing complete medication histories.

A patient's complete medication history is a crucial element for physicians to develop a full understanding of the patient's medical conditions and treatment options. However, due to the fragmented nature of medical data, this process can be very time-consuming and often impossible for physicians to construct a complete medication history for complex patients. In this paper, we describe an accurate, computationally efficient and scalable algorithm to construct a medication history timeline. The algorithm is developed and validated based on 1 million random prescription records from a large national prescription data aggregator. Our evaluation shows that the algorithm can be scaled horizontally on-demand, making it suitable for future delivery in a cloud-computing environment. We also propose that this cloud-based medication history computation algorithm could be integrated into Electronic Medical Records, enabling informed clinical decision-making at the point of care.