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1.
Article | IMSEAR | ID: sea-222120

ABSTRACT

Dietary advice forms the cornerstone in the management of cardiometabolic disease. Though various national and international guidelines suggest different macronutrient proportions, locally framed person-centric diet prescriptions are likely to have a better compliance. In this article, we propose an indigenous traditional Indian Ocean (TRIO) diet, which constitutes a similar pattern of the dietary practices followed by inhabitants of the Indian Ocean littoral region. The TRIO diet highlights on concepts of procurement, preparation, presentation, prioritization, preservation and partaking and may be a good alternative to the Mediterranean diet followed in western countries.

2.
Journal of Forensic Medicine ; (6): 254-261, 2023.
Article in English | WPRIM | ID: wpr-981858

ABSTRACT

OBJECTIVES@#To establish an analytical method for half sibling testing involving common three relatives' participation.@*METHODS@#Based on the half sibling testing scenarios with the known biological mother, grandfather or uncle, and two unidentified controversial half siblings participating, two opposing hypotheses were set. Lineage reconstruction according to Mendel's law of heredity was carried out, and the calculation formula of the half sibling kinship index was derived. Verification of actual cases was carried out and the results were compared with duo half sibling testing.@*RESULTS@#In the scenarios of the known biological mother, grandfather and uncle participating in half sibling testing, the kinship calculation formulae of 54, 91 and 99 genotype combinations for kinship index calculation were deduced respectively. The actual cases showed higher kinship indexes in trio half sibling testing compared with duo half sibling testing.@*CONCLUSIONS@#It is beneficial to obtain more genetic information for family reconstruction and improvement of the strength of genetic evidence for half sibling testing by adding known relatives.


Subject(s)
Female , Humans , Siblings , Genotype , Mothers , Microsatellite Repeats
3.
Journal of Forensic Medicine ; (6): 247-253, 2023.
Article in English | WPRIM | ID: wpr-981857

ABSTRACT

OBJECTIVES@#To study the detection efficiency of trio full sibling with another known full sibling reference added under different number of autosomal STR typing systems.@*METHODS@#Based on 43 detection systems consisting of 13 to 55 representative autosomal STR loci, 10 000 true families (full sibling group) and 10 000 false families (unrelated individual group) were randomly simulated. The full sibling index (FSI) was calculated based on the method of family reconstruction. The cumulative sibling relationship index (CFSI) of 0.000 1 and 10 000 were used as the evaluation thresholds, and the detection efficiency parameters were calculated and compared with the identification of the duo full sibling testing.@*RESULTS@#With the increasing number of STR loci, the error rate and inability of judgement rate gradually decreased; the sensitivity, specificity, correct rate of judgment and other parameters gradually increased, and the system efficiency gradually improved. Under the same detection system, trio full sibling testing showed higher sensitivity, specificity, system efficiency and lower inability of judgement rate compared with duo full sibling testing. When the system efficiency was higher than 0.85 and inability of judgement rate was less than 0.01%, at least 20 STRs should be detected for trio full sibling testing, which was less than 29 STRs required by duo full sibling testing.@*CONCLUSIONS@#The detection efficiency of trio full sibling testing is superior to that of duo full sibling testing with the same detection system, which is an effective identification scheme for laboratories with inadequate detection systems or for materials with limited conditions.


Subject(s)
Humans , Siblings , Microsatellite Repeats/genetics , DNA Fingerprinting , Gene Frequency
4.
Neuroscience Bulletin ; (6): 249-262, 2022.
Article in English | WPRIM | ID: wpr-929098

ABSTRACT

The radial migration of cortical pyramidal neurons (PNs) during corticogenesis is necessary for establishing a multilayered cerebral cortex. Neuronal migration defects are considered a critical etiology of neurodevelopmental disorders, including autism spectrum disorders (ASDs), schizophrenia, epilepsy, and intellectual disability (ID). TRIO is a high-risk candidate gene for ASDs and ID. However, its role in embryonic radial migration and the etiology of ASDs and ID are not fully understood. In this study, we found that the in vivo conditional knockout or in utero knockout of Trio in excitatory precursors in the neocortex caused aberrant polarity and halted the migration of late-born PNs. Further investigation of the underlying mechanism revealed that the interaction of the Trio N-terminal SH3 domain with Myosin X mediated the adherence of migrating neurons to radial glial fibers through regulating the membrane location of neuronal cadherin (N-cadherin). Also, independent or synergistic overexpression of RAC1 and RHOA showed different phenotypic recoveries of the abnormal neuronal migration by affecting the morphological transition and/or the glial fiber-dependent locomotion. Taken together, our findings clarify a novel mechanism of Trio in regulating N-cadherin cell surface expression via the interaction of Myosin X with its N-terminal SH3 domain. These results suggest the vital roles of the guanine nucleotide exchange factor 1 (GEF1) and GEF2 domains in regulating radial migration by activating their Rho GTPase effectors in both distinct and cooperative manners, which might be associated with the abnormal phenotypes in neurodevelopmental disorders.


Subject(s)
Humans , Autism Spectrum Disorder/metabolism , Cell Movement/genetics , Interneurons/metabolism , Neurodevelopmental Disorders/genetics , Neurons/metabolism , Rho Guanine Nucleotide Exchange Factors/genetics
5.
Korean Journal of Anesthesiology ; : 381-384, 2019.
Article in English | WPRIM | ID: wpr-759545

ABSTRACT

BACKGROUND: The trans-tracheal rapid insufflation of oxygen (TRIO) device is less commonly used and is an alternative to trans-tracheal jet ventilation for maintaining oxygenation in a “cannot intubate, cannot oxygenate” (CICO) scenario. CASE: We report the successful use of this device to maintain oxygenation after jet ventilator failure in a parturient who presented with the CICO scenario during the procedure for excision of laryngeal papilloma. CONCLUSIONS: A stepwise approach to the airway plan and preparation for an event of failure is essential for good materno-fetal outcomes. The TRIO device may result in inadequate ventilation that can lead to hypercarbia and respiratory acidosis. Hence, it should only be used as a temporizing measure before a definitive airway can be secured.


Subject(s)
Acidosis, Respiratory , Airway Management , Airway Obstruction , Anesthesia, Obstetrical , High-Frequency Jet Ventilation , Insufflation , Oxygen , Papilloma , Ventilation , Ventilators, Mechanical
6.
Chinese Journal of Epidemiology ; (12): 670-675, 2019.
Article in Chinese | WPRIM | ID: wpr-805451

ABSTRACT

Objective@#Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with its genetic evidence widely explored. This study explored the potential the parent-of-origin (PoO) effect of WNT pathway on the risks of NSCL/P, using a case-parent trio design.@*Methods@#Data on the single nucleotide polymorphism (SNP) of WNT genes were selected from a genome-wide association study (GWAS). A total of 806 Chinese non-syndromic cleft lip patients, with or without cleft palate (NSCL/P) case-parent trios, were gathered from an international consortium. PoO effect of WNT pathway genes and its haplotypes were explored by log-linear models. Additional Wald tests were performed to assess: a) the heterogeneity of PoO effect between different maternal exposures, b) the interaction between PoO effect, c) maternal exposure to environmental tobacco smoke (ETS), and d) multivitamin supplementation during pregnancy. The threshold for statistical significance was adjusted as 3.47×10-4, according to Bonferroni correction.@*Results@#After quality control, a total of 144 SNPs within seven genes were included for analyses, among which 8 SNPs were of potential PoO effect (P<0.05). However, none of them achieved the statistical significance after Bonferroni correction. The haplotype rs4074668-rs12725747 (T-A) on WNT9A showed significant PoO effect, based on the haplotype test for PoO (P=2.74×10-4). In addition, no statistically significant interaction was found in further exploration of this haplotype under environmental exposures as ETS or multivitamin supplementation.@*Conclusions@#Genes in the WNT pathway may influence the NSCL/P risks through the potential PoO effect. Particularly, the haplotype rs4074668-rs12725747 (T-A) on WNT9A presented significant PoO effect on NSCL/P, statistically. From this current study, findings on WNT pathway related risks among the NSCL/P, need to be further validated by independent samples in the future.

7.
Chinese Traditional and Herbal Drugs ; (24): 2809-2816, 2019.
Article in Chinese | WPRIM | ID: wpr-851047

ABSTRACT

Objective: To study the anti-inflammatory and anti-obesity constituents from the leaves of Hippophae rhamnoids. Methods: Several open-column chromatographic techniques and semi-preparative HPLC were used to separate and purify the compounds in H. rhamnoids. The structures of isolated compounds were elucidated by the spectroscopic analysis. Their inhibitory effects on nitric oxide production in RAW264.7 cells, and triglyceride accumulation in 3T3-L1 cells were examined. Results: Eighteen tannins and other compounds were isolated and identified as 1,2,6-tri-O-galloyl-β-D-glucopyranose (1), 1,3,6-tri-O-galloyl-β-D- glucopyranose (2), 1,4,6-tri-O-galloyl-β-D-glucopyranose (3), 1,3,4,6-tetra-O-galloyl-β-D-glucopyranose (4), 1,2,3,6-tetra-O-galloyl- β-D-glucopyranose (5), 1,2,3,4,6-penta-O-galloyl-β-D-glucopyranose (6), 1-O-galloyl-4,6-(S)-HHDP-β-D-glucopyranose (7), 1-O- galloyl-2,3-(S)-HHDP-β-D-glucopyranose (8), 1,3-di-O-galloyl-4,6-(S)-HHDP-β-D-glucopyranose (9), 1,6-di-O-galloyl-2,3-(S)- HHDP-β-D-glucopyranose (10), casuarictin (11), 1,2,3-tri-O-galloyl-4,6-(S)-HHDP-β-D-glucopyranose (12), 1,4,6-tri-O-galloyl-2,3-(S)- HHDP-β-D-glucopyranose (13), hippophaenin B (14), pedunculagin (15), casuarinin (16), ellagic acid (17), and pinitol (18). Conclusion: Tannins from the leaves of H. rhamnoides showed anti-inflammatory and anti-obesity activities. Compounds 2, 3, 5, 6, 8, 10, 12, and 13 were isolated from this genus for the first time.

8.
Psychiatry Investigation ; : 450-458, 2019.
Article in English | WPRIM | ID: wpr-760947

ABSTRACT

OBJECTIVE: A popular design for the investigation of such effects, including effects of parent-of-origin (imprinting), maternal genotype, and maternal-fetal genotype interactions, is to collect deoxyribonucleic acid (DNA) from affected offspring and their mothers and to compare with an appropriate control sample. We investigate the effects of estimation of maternal, imprinting and interaction effects using multimodal modeling using parents and their offspring with schizophrenia in Korean population. METHODS: We have recruited 27 probands (with schizophrenia) with their parents and siblings whenever possible. We analyzed 20 SNPs of 7 neuronal genes in chromosome 18. We used EMIM analysis program for the estimation of maternal, imprinting and interaction effects using multimodal modeling. RESULTS: Of analyzed 20 single nucleotide polymorphisms (SNPs), significant SNP (rs 2276186) was suggested in EMIM analysis for child genetics effects (p=0.0225438044) and child genetic effects allowing for maternal genetic effects (p=0.0209453210) with very stringent multiple comparison Bonferroni correction. CONCLUSION: Our results are the pilot study for epigenetic study in mental disorder and help to understanding and use of EMIM statistical genetics analysis program with many limitations including small pedigree numbers.


Subject(s)
Child , Humans , Chromosomes, Human, Pair 18 , DNA , Epigenomics , Genetics , Genotype , Linear Models , Mental Disorders , Mothers , Neurons , Parents , Pedigree , Pilot Projects , Polymorphism, Single Nucleotide , Schizophrenia , Siblings
9.
Chinese Traditional and Herbal Drugs ; (24): 3734-3740, 2017.
Article in Chinese | WPRIM | ID: wpr-852520

ABSTRACT

Objective To study and establish the HPLC fingerprint standard for the quality analysis and compare effects on the chemical composition of gallnut by ferment of Chinese gall leaven. Methods The fingerprint of Chinese gall leaven was built by Waters Symmmetry ShieldTM RP18 (250 mm × 4.6 mm, 5 μm) C18 column, and acetonitrile-0.1% trifluoroacetic acid aqueous in gradient as mobile phase, the flow rate was 0.8 mL/min, and the detecting wavelength was set at 280 nm. The chemical fingerprint similarity of 10 batches of Chinese gall leaven was calculated with the Chromap Chromafinger 2005 beta 0.1 standard substance comparison and HPLC-MS were adopted to identify the common peaks. Results The fingerprint chromatography for the 10 batches of Chinese gall leaven included 10 common peaks, with a good separation at each peak. The relative retention time for common peaks of each batch was less than 1.0%, and the similarities among 10 samples were greater than 0.90. Gallic acid (peak 1), (-)-epigallocatechin (EGC, peak 2), methyl gallate (peak 3), ethyl gallate (peak 5), epigallocatechin gallate (EGCG, peak 6), 2,4,6-tri-O-galloyl-β-D-glucose (peak 7), and 2,4,6-tri-O-galloyl-α-D-glucose (peak 9) were identified. The gallnut fermented made the content of gallic acid and 2,4,6-tri-O-galloyl-α-D-glucose increased and the contents of methyl gallate, ethyl gallate, and (-)-epigallocatechin gallate decreased. It was found that (-)-epigallocatechin and 2,4,6-tri-O-galloyl-β-D-glucose had formed in the process for the first time. Conclusion The processing mechanism of Chinese gall leaven is related to gallnut fermentation process change and create new chemical composition and fingerprint can be used to monitor the quality of fermentation processing of Chinese gall leaven.

10.
Genomics & Informatics ; : 138-141, 2011.
Article in English | WPRIM | ID: wpr-7986

ABSTRACT

Here, we report a computer program written in Python, which phases SNP genotypes and infers inherited deletions based on the pattern of Mendelian inheritance within a trio pedigree. When tiered trio genotypes that encompass three generations are available, it narrows a recombination event down to a region between two consecutive heterozygous markers. In addition, the phase information that is inferred from the upper trio that is formed by one of the parents and grandparents can be propagated to phase the genotypes of the lower trio that is formed by the parents and an offspring.


Subject(s)
Humans , Boidae , Family Characteristics , Genotype , Parents , Pedigree , Recombination, Genetic , Software , Wills
11.
Korean Journal of Pediatric Infectious Diseases ; : 74-82, 2010.
Article in Korean | WPRIM | ID: wpr-219051

ABSTRACT

PURPOSE: The Dipslide culture test is a rapid method for diagnosis of urinary tract infection (UTI). The aim of this study is to determine the diagnostic availability of a urine Dipslide test for evaluation of UTI in febrile children. METHODS: Urine specimens from 151 febrile infants were inoculated by a routine blood agar urine culture method and the Dipslide test at the same time. Following incubation for 16-24 hours, the results of the Dipslide test were read at the next visit. Both results of Dipslide and those of routine culture were compared. RESULTS: The mean age of subjects was 15+/-10.6 months. There were 150 infants (99.3%) who had fever with a mean duration of 2.6+/-2.6 days. Thirty two infants (21.2%) were diagnosed as having UTI. Sensitivity and specificity of Uricult Trio CLED medium were 59.4% and 84.8%, respectively. Sensitivity and specificity of Uricult Trio E. coli medium were 60.0% and 96.2%, respectively. The Pearson correlation coefficient between results of Uricult Trio CLED medium and urine culture was 0.438 (P=0.01). Correlation between results of Uricult Trio E. coli medium and urine culture was 0.617 (P=0.01). CONCLUSION: The Dipslide test requires only 16-24 hours with high specificity in terms of UTI caused by E. coli without the problems associated with specimen delay. This test seems to be helpful for exclusion of UTI in febrile infants and it may reduce unnecessary hospitalization and antibiotic use. However, further studies are required before the product can be recommended as a routine diagnostic tool.


Subject(s)
Child , Humans , Infant , Agar , Fever , Hospitalization , Mass Screening , Sensitivity and Specificity , Urinary Tract Infections
12.
Genet. mol. biol ; 31(3): 639-642, 2008. ilus, tab
Article in English | LILACS | ID: lil-490048

ABSTRACT

Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with features of a complex genetic trait. Several studies have reported positive association and linkage between NSCLP and microsatellite markers in the 4q28-4q33 region particularly with the D4S192 (4q31) marker. We hypothesized that the candidate genes SMAD1 and HHIP (4q31) could be involved in the etiology of NSCLP based on previous positive linkage results and their important role in maxillofacial development. We evaluated the possible association between microsatellite markers located at less than 1 cM from these genes and NSCLP using a sample of 58 Chilean case-parent trios. Microsatellite markers were analyzed using the polymerase chain reaction (PCR) with fluorescent labeled primers. Electrophoresis of the PCR products was performed on a laser-fluorescent automatic DNA sequencer. The extended transmission disequilibrium test (ETDT) was used to analyze allelic transmissions from the parents to their affected progeny. No significant association due to linkage disequilibrium was detected between both markers and NSCLP.

13.
Yonsei Medical Journal ; : 101-108, 2007.
Article in English | WPRIM | ID: wpr-200060

ABSTRACT

Orofacial clefts, including cleft lip with or without palate (CL/P) and cleft palate (CP), are one of the most common congenital malformations in Asian populations, where the rate of incidence is higher than in European or other racial groups. A number of candidate genes have been identified for orofacial clefts, although no single candidate has been consistently identified in all studies. We performed case-parent trio and case- control studies on 6 single nucleotide polymorphisms (SNPs) in the MSX1 gene using a sample of 52 CL/P and CP probands from Korea. In the case-control study, the allele frequencies of 6 MSX1 SNPs were compared between 52 oral cleft cases and 96 unmatched controls. For the case-parent trio study, single-marker and haplotype-based tests of transmission disequilibrium using allelic and genotypic tests revealed significant evidence of linkage in the presence of disequilibrium for 1170 G/A of exon 2. With the GG genotype as a reference group among GG, GA, and AA genotypes at 1170G/A, the disease risk decreased with the presence of the A allele (AA genotype: OR=0.26, 95% CI=0.10-0.99). These results are consistent with evidence from other studies in the US and Chile and confirm the importance of the MSX1 genotype in determining the risk of CL/P and CP in Koreans.

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