1.Quantitative risk assessment of the polycyclic aromatic hydrocarbons dietary exposure from edible fats and oils in China.
Mengsi CAO ; Jun WANG ; Lishi ZHANG ; Weixing YAN
Chinese Journal of Preventive Medicine 2016;50(2):163-167
OBJECTIVETo assess the quantitative risk of the polycyclic aromatic hydrocarbons (PAHs) dietary exposure from edible fats and oils in China.
METHODSOne hundred samples of edible fats and oils were collected from the supermarkets and the farmers markets in 11 provinces of China from December in 2013 to May in 2014. Then they were tested for EU15+1 PAHs (16 PAHs were controlled in priority by European Food Safety Authority) by two test methods which were QuECHERS-GC-MS-MS and GPC-HPLC-FLD. Data of PAHs concentration and edible fats and oils consumption which were from Chinese National Nutrition and Health Survey in 2002 were combined to evaluate carcinogenic risk of PAHs in edible fats and oils by the method of margin of exposure (MOE). In this process, we divided the population into 6 groups, namely male adults (older than 18 years old), female adults (older than 18), male youths (13-17), female youths (13-17), school-agers (6-12) and preschoolers (2-5), and thought carcinogenicity as the critical toxicity end point of PAHs. Two quantitative risk assessment methods, i.e. point assessment and probability assessment, were used to evaluate the dietary exposure and MOEs.
RESULTSEU15+1 PAHs in one of 100 samples were not detected, other samples were polluted in different degrees; the detection rates were 3%-98% and the average contents were 0.26-3.26 μg/kg. The results of PAHs dietary exposure from both of point assessment and probability assessment were the same. The average exposures of PAH8 were as the following: male adults were 10.03 and (9.34 ± 12.61) ng·kg(-1)·d(-1)(The former was from point assessment and the latter from probability assessment, the same below), female adults were 9.95 and (9.60 ± 15.04) ng · kg(-1)·d (-1), male youths were 11.09 and (10.84 ± 16.54) ng·kg(-1)·d(-1), female youths were 10.06 and (9.58 ± 12.87) ng·kg(-1)·d(-1),school-agers were 15.29 and (15.62 ± 25.54) ng·kg(-1)·d(-1), preschoolers were 19.27 and (19.22 ± 28.91) ng·kg(-1)·d(-1). MOEs of mean and 50% exposure levels in different group of people were more than 10,000, while MOEs of 95% exposure levels in school-agers and preschoolers were less than 10,000.
CONCLUSIONFor general consumers, the health risk of PAHs exposure is very low. However, for high-end consumers (95% exposure level) from the sensitive groups (school-ager and preschooler) has a potential health risk.
Adolescent ; Adult ; Child ; Child, Preschool ; China ; Chromatography, High Pressure Liquid ; Diet ; Environmental Exposure ; Fats ; chemistry ; Female ; Food Safety ; Humans ; Male ; Plant Oils ; chemistry ; Polycyclic Aromatic Hydrocarbons ; analysis ; Risk Assessment ; Tandem Mass Spectrometry ; Young Adult
2.Genetic analysis of an infant death due to a paternally derived FOXF1 somatic-gonadal mosaic variant.
Jing WANG ; Qingwen ZHU ; Aiming CUI ; Mengsi LIN ; Xian CAO
Chinese Journal of Medical Genetics 2023;40(9):1176-1180
OBJECTIVE:
To investigate the genetic characteristics and cause of death for an infant with alveolar capillary dysplasia and pulmonary vein misalignment (ACD/MPV).
METHODS:
An infant with ACD/MPV diagnosed at the Affiliated Maternity and Child Health Care Hospital of Nantong University in September 2022 was selected as the study subject. Clinical data of the infant were collected. Whole exome sequencing (WES) was carried out to detect genetic variants in the skin tissue, and Sanger sequencing was performed for verifying the candidate variants in the parents. Droplet digital PCR (ddPCR) was used to determine the mosaicism ratio of the variant in different germ layer-derived samples from the father.
RESULTS:
The infant had died within 2 days after birth due to hypoxemia and respiratory distress. WES revealed that she has harbored a c.433C>T nonsense variant in exon 1 of the FOXF1 gene, which was unreported previously. Sanger sequencing has verified the variant in the infant, with her mother's locus being the wild-type and a minor variant peak noted in her father. ddPCR indicated that the mosaic ratio of the c.433C>T variant in the father's sperm was 27.18%, with the mosaic ratios of the variant in tissues originating from the three germ layers ranging from 11% to 28%.
CONCLUSION
The c.433C>T variant derived from the paternal germline and somatic mosaicism of the FOXF1 gene had probably predisposed to the neonatal death of this infant. ddPCR is an effective method for detecting mosaic variants.
Female
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Humans
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Pregnancy
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Child
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Infant
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Infant, Newborn
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Male
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Semen
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Infant Death
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Exons
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Mosaicism
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Forkhead Transcription Factors/genetics*