Source apportionment of particulate matter （PM10） measurements taken in Delhi, India between January 2013 and June 2014 was carried out using two receptor models, principal component analysis with absolute principal...Source apportionment of particulate matter （PM10） measurements taken in Delhi, India between January 2013 and June 2014 was carried out using two receptor models, principal component analysis with absolute principal component scores （PCA/APCS） and UNMIX. The results were compared with previous estimates generated using the positive matrix factorization （PMF） receptor model to investigate each model＇s source-apportioning capability. All models used the PM10 chemical composition （organic carbon （OC）, elemental carbon （EC）, water soluble inorganic ions （WSIC）, and trace elements） for source apportionment. The average PM10 concentration during the study period was 249.7±103.9 μg/m3 （range： 61.4-584.8 μg/m3）. The UNMIX model resolved five sources （soil dust （SD）, vehicular emissions （VE）, secondary aerosols （SA）, a mixed source of biomass burning （BB） and sea salt （SS）, and industrial emissions （IE））. The PCA/APCS model also resolved five sources, two of which also included mixed sources （SD, VE, SD＋SS, （SA＋BB＋SS） and 1E）. The PMF analysis differentiated seven individual sources （SD, VE, SA, BB, SS, IE, and fossil fuel combustion （FFC））. All models identified the main sources contributing to PM10 emissions and reconfirmed that VE, SA, BB, and SD were the dominant contributors in Delhi.展开更多
BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to th...BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to the Hungarian population.METHODS This prospective single-center study enrolled patients with clinically suspected FAP or attenuated FAP(aFAP).Whole-exome next-generation sequencing was performed to detect variants of 50 FAP priority genes and 173 CRC predisposing genes or other CRC disease-associated genes.To identify larger deletions and insertions,a multiplex amplifiable probe hybridization technique was used.The identified genes were then classified according to the American College of Medical Genetics and Genomics guidelines.RESULTS A total of 26 index patients with clinically suspected FAP(n=21)and aFAP(n=5)were enrolled.APC gene alterations were confirmed in 92.31%of the cases(region 1B deletion,n=2;whole-gene deletion,n=4;frameshift mutation,n=2;nonsense mutation,n=5,and splice mutation,n=1),with the remaining two cases having CHEK2 and MSH3 gene alterations.According to pathogenicity,21 cases had pathogenic mutations,6 cases had likely pathogenic mutations,and 16 cases had variants of unknown significance(VUS).The most frequent of the latter were the POLE(n=5)and PIEZO1(n=4)gene variants.CONCLUSION Germline mutations in the APC gene were confirmed in more than 90%of Hungarian patients with clinically suspected FAP.Although the role of VUS genes is unclear,they are highly likely to play a role in the development of CRC.展开更多
文摘Source apportionment of particulate matter （PM10） measurements taken in Delhi, India between January 2013 and June 2014 was carried out using two receptor models, principal component analysis with absolute principal component scores （PCA/APCS） and UNMIX. The results were compared with previous estimates generated using the positive matrix factorization （PMF） receptor model to investigate each model＇s source-apportioning capability. All models used the PM10 chemical composition （organic carbon （OC）, elemental carbon （EC）, water soluble inorganic ions （WSIC）, and trace elements） for source apportionment. The average PM10 concentration during the study period was 249.7±103.9 μg/m3 （range： 61.4-584.8 μg/m3）. The UNMIX model resolved five sources （soil dust （SD）, vehicular emissions （VE）, secondary aerosols （SA）, a mixed source of biomass burning （BB） and sea salt （SS）, and industrial emissions （IE））. The PCA/APCS model also resolved five sources, two of which also included mixed sources （SD, VE, SD＋SS, （SA＋BB＋SS） and 1E）. The PMF analysis differentiated seven individual sources （SD, VE, SA, BB, SS, IE, and fossil fuel combustion （FFC））. All models identified the main sources contributing to PM10 emissions and reconfirmed that VE, SA, BB, and SD were the dominant contributors in Delhi.
基金Supported by the Research Grants of the National Research,Development and Innovation Office,No.K125377,No.K134863 and No.K143549New National Excellence Program of the Ministry of Human Capacities,No.UNKP-20-5-SZTE-161,No.UNKP-22-3-SZTE-233,No.UNKP-23-5-SZTE-719,No.UNKP-22-4-SZTE-296 and No.UNKP-22-3-SZTE-278+1 种基金Janos Bolyai Research Grant,No.BO/00723/22the Géza Hetényi Research Grant by Albert Szent-Györgyi Medical School,University of Szeged.
文摘BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to the Hungarian population.METHODS This prospective single-center study enrolled patients with clinically suspected FAP or attenuated FAP(aFAP).Whole-exome next-generation sequencing was performed to detect variants of 50 FAP priority genes and 173 CRC predisposing genes or other CRC disease-associated genes.To identify larger deletions and insertions,a multiplex amplifiable probe hybridization technique was used.The identified genes were then classified according to the American College of Medical Genetics and Genomics guidelines.RESULTS A total of 26 index patients with clinically suspected FAP(n=21)and aFAP(n=5)were enrolled.APC gene alterations were confirmed in 92.31%of the cases(region 1B deletion,n=2;whole-gene deletion,n=4;frameshift mutation,n=2;nonsense mutation,n=5,and splice mutation,n=1),with the remaining two cases having CHEK2 and MSH3 gene alterations.According to pathogenicity,21 cases had pathogenic mutations,6 cases had likely pathogenic mutations,and 16 cases had variants of unknown significance(VUS).The most frequent of the latter were the POLE(n=5)and PIEZO1(n=4)gene variants.CONCLUSION Germline mutations in the APC gene were confirmed in more than 90%of Hungarian patients with clinically suspected FAP.Although the role of VUS genes is unclear,they are highly likely to play a role in the development of CRC.
