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Article ; Online: Associations between birth defects with neural crest cell origins and pediatric embryonal tumors.

Wong, Eugene C / Lupo, Philip J / Desrosiers, Tania A / Nichols, Hazel B / Smith, Susan M / Poole, Charles / Canfield, Mark / Shumate, Charles / Chambers, Tiffany M / Schraw, Jeremy M / Nembhard, Wendy N / Yazdy, Mahsa M / Nestoridi, Eirini / Janitz, Amanda E / Olshan, Andrew F

Cancer

2023 Volume 129, Issue 22, Page(s) 3595–3602

Abstract: Background: There are few assessments evaluating associations between birth defects with neural crest cell developmental origins (BDNCOs) and embryonal tumors, which are characterized by undifferentiated cells having a molecular profile similar to ... ...

Abstract	Background: There are few assessments evaluating associations between birth defects with neural crest cell developmental origins (BDNCOs) and embryonal tumors, which are characterized by undifferentiated cells having a molecular profile similar to neural crest cells. The effect of BDNCOs on embryonal tumors was estimated to explore potential shared etiologic pathways and genetic origins. Methods: With the use of a multistate, registry-linkage cohort study, BDNCO-embryonal tumor associations were evaluated by generating hazard ratios (HRs) and 95% confidence intervals (CIs) with Cox regression models. BDNCOs consisted of ear, face, and neck defects, Hirschsprung disease, and a selection of congenital heart defects. Embryonal tumors included neuroblastoma, nephroblastoma, and hepatoblastoma. Potential HR modification (HRM) was investigated by infant sex, maternal race/ethnicity, maternal age, and maternal education. Results: The risk of embryonal tumors among those with BDNCOs was 0.09% (co-occurring n = 105) compared to 0.03% (95% CI, 0.03%-0.04%) among those without a birth defect. Children with BDNCOs were 4.2 times (95% CI, 3.5-5.1 times) as likely to be diagnosed with an embryonal tumor compared to children born without a birth defect. BDNCOs were strongly associated with hepatoblastoma (HR, 16.1; 95% CI, 11.3-22.9), and the HRs for neuroblastoma (3.1; 95% CI, 2.3-4.2) and nephroblastoma (2.9; 95% CI, 1.9-4.4) were elevated. There was no notable HRM by the aforementioned factors. Conclusions: Children with BDNCOs are more likely to develop embryonal tumors compared to children without a birth defect. Disruptions of shared developmental pathways may contribute to both phenotypes, which could inform future genomic assessments and cancer surveillance strategies of these conditions.
MeSH term(s)	Infant ; Child ; Humans ; Neural Crest ; Cohort Studies ; Hepatoblastoma/epidemiology ; Hepatoblastoma/genetics ; Wilms Tumor/epidemiology ; Wilms Tumor/genetics ; Neuroblastoma/epidemiology ; Neuroblastoma/genetics ; Liver Neoplasms ; Kidney Neoplasms ; Risk Factors
Language	English
Publishing date	2023-07-11
Publishing country	United States
Document type	Journal Article ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, N.I.H., Extramural
ZDB-ID	1429-1
ISSN	1097-0142 ; 0008-543X ; 1934-662X
ISSN (online)	1097-0142
ISSN	0008-543X ; 1934-662X
DOI	10.1002/cncr.34952
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Article ; Online: Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.

NPJ genomic medicine

2021 Volume 6, Issue 1, Page(s) 88

Language	English
Publishing date	2021-10-12
Publishing country	England
Document type	Published Erratum
ZDB-ID	2813848-X
ISSN	2056-7944 ; 2056-7944
ISSN (online)	2056-7944
ISSN	2056-7944
DOI	10.1038/s41525-021-00251-3
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Publisher Correction

npj Genomic Medicine, Vol 6, Iss 1, Pp 1-

Application of full-genome analysis to diagnose rare monogenic disorders

2021 Volume 1

Keywords	Medicine ; R ; Genetics ; QH426-470
Language	English
Publishing date	2021-10-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: DNA Methylation in Peripheral Blood and Risk of Gastric Cancer: A Prospective Nested Case-control Study.

Chamberlain, James A / Dugué, Pierre-Antoine / Bassett, Julie K / Milne, Roger L / Joo, Jihoon E / Wong, Ee Ming / Brinkman, Maree T / Stuart, Geoffrey W / Boussioutas, Alex / Southey, Melissa C / Giles, Graham G / Mitchell, Hazel / English, Dallas R / Hodge, Allison M

Cancer prevention research (Philadelphia, Pa.)

2020 Volume 14, Issue 2, Page(s) 233–240

Abstract: DNA methylation in peripheral blood is a potential biomarker of gastric cancer risk which could be used for early detection. We conducted a prospective case-control study nested within the Melbourne Collaborative Cohort Study. Genomic DNA was prepared ... ...

Abstract	DNA methylation in peripheral blood is a potential biomarker of gastric cancer risk which could be used for early detection. We conducted a prospective case-control study nested within the Melbourne Collaborative Cohort Study. Genomic DNA was prepared from blood samples collected a median of 12 years before diagnosis for cases (
MeSH term(s)	Adult ; Aged ; Case-Control Studies ; CpG Islands/genetics ; DNA Methylation ; Epigenesis, Genetic ; Female ; Genome-Wide Association Study ; Humans ; Incidence ; Male ; Middle Aged ; Neoplasm Staging ; Prospective Studies ; Reproducibility of Results ; Risk Assessment/methods ; Risk Assessment/statistics & numerical data ; Risk Factors ; Stomach Neoplasms/blood ; Stomach Neoplasms/diagnosis ; Stomach Neoplasms/epidemiology ; Stomach Neoplasms/genetics
Language	English
Publishing date	2020-09-21
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2434717-6
ISSN	1940-6215 ; 1940-6207
ISSN (online)	1940-6215
ISSN	1940-6207
DOI	10.1158/1940-6207.CAPR-20-0003
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Zs.A 6766: Show issues

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Article ; Online: Application of full-genome analysis to diagnose rare monogenic disorders.

NPJ genomic medicine

2021 Volume 6, Issue 1, Page(s) 77

Abstract: Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small ... ...

Abstract	Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small variants, structural variants with breakpoint resolution, and phasing. We built a variant prioritization pipeline and tested FGA's utility for diagnosis of rare diseases in a clinical setting. FGA identified structural variants and small variants with an overall diagnostic yield of 40% (20 of 50 cases) and 35% in exome-negative cases (8 of 23 cases), 4 of these were structural variants. FGA detected and mapped structural variants that are missed by short reads, including non-coding duplication, and phased variants across long distances of more than 180 kb. With the prioritization algorithm, longer DNA technologies could replace multiple tests for monogenic disorders and expand the range of variants detected. Our study suggests that genomes produced from technologies like FGA can improve variant detection and provide higher resolution genome maps for future application.
Language	English
Publishing date	2021-09-23
Publishing country	England
Document type	Journal Article
ZDB-ID	2813848-X
ISSN	2056-7944 ; 2056-7944
ISSN (online)	2056-7944
ISSN	2056-7944
DOI	10.1038/s41525-021-00241-5
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Article ; Online: Application of full-genome analysis to diagnose rare monogenic disorders

npj Genomic Medicine, Vol 6, Iss 1, Pp 1-

2021 Volume 10

Abstract: Abstract Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to ... ...

Abstract	Abstract Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small variants, structural variants with breakpoint resolution, and phasing. We built a variant prioritization pipeline and tested FGA’s utility for diagnosis of rare diseases in a clinical setting. FGA identified structural variants and small variants with an overall diagnostic yield of 40% (20 of 50 cases) and 35% in exome-negative cases (8 of 23 cases), 4 of these were structural variants. FGA detected and mapped structural variants that are missed by short reads, including non-coding duplication, and phased variants across long distances of more than 180 kb. With the prioritization algorithm, longer DNA technologies could replace multiple tests for monogenic disorders and expand the range of variants detected. Our study suggests that genomes produced from technologies like FGA can improve variant detection and provide higher resolution genome maps for future application.
Keywords	Medicine ; R ; Genetics ; QH426-470
Subject code	572
Language	English
Publishing date	2021-09-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
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Article ; Online: Dietary Intake of Nutrients Involved in One-Carbon Metabolism and Risk of Gastric Cancer: A Prospective Study.

Dugué, Pierre-Antoine / Bassett, Julie K / Brinkman, Maree T / Southey, Melissa C / Joo, Jihoon E / Wong, Ee Ming / Milne, Roger L / English, Dallas R / Giles, Graham G / Boussioutas, Alex / Mitchell, Hazel / Hodge, Allison M

Nutrition and cancer

2019 Volume 71, Issue 4, Page(s) 605–614

Abstract: Dietary intakes of B vitamins and other components involved in one-carbon metabolism, which is necessary for DNA replication, DNA repair, and regulation of gene expression, may be associated with carcinogenesis. We investigated associations between ... ...

Abstract	Dietary intakes of B vitamins and other components involved in one-carbon metabolism, which is necessary for DNA replication, DNA repair, and regulation of gene expression, may be associated with carcinogenesis. We investigated associations between intakes of 11 nutrients (thiamine, riboflavin, niacin, pantothenic acid, vitamin B6, biotin, folate, vitamin B12, methionine, choline, and betaine) and gastric cancer risk. A total of 159 incident gastric cancer cases were identified from the Melbourne Collaborative Cohort Study (N = 41,513) and matched with 159 controls on year of birth, sex, and country of birth using incidence density sampling. Dietary intakes of nutrients were estimated at baseline (1990-1994) using a 121-item food frequency questionnaire. Odds ratios (ORs) and 95% confidence intervals were estimated using conditional logistic regression models adjusting for Helicobacter pylori infection, and other potential confounders. We observed a positive association between intake of niacin and overall gastric cancer risk (OR = 1.33, 95%CI: 1.01-1.75 per SD increment). For thiamine, heterogeneity by subtype (cardia and non-cardia) was found (P
MeSH term(s)	Adult ; Aged ; Australia/epidemiology ; Betaine/pharmacology ; Carbon/metabolism ; Case-Control Studies ; Choline ; Diet ; Female ; Folic Acid/pharmacology ; Helicobacter Infections/complications ; Humans ; Male ; Middle Aged ; Nutrients/pharmacology ; Odds Ratio ; Riboflavin/pharmacology ; Risk Factors ; Stomach Neoplasms/epidemiology ; Stomach Neoplasms/etiology ; Vitamin B Complex/pharmacology
Chemical Substances	Vitamin B Complex (12001-76-2) ; Betaine (3SCV180C9W) ; Carbon (7440-44-0) ; Folic Acid (935E97BOY8) ; Choline (N91BDP6H0X) ; Riboflavin (TLM2976OFR)
Language	English
Publishing date	2019-03-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Video-Audio Media
ZDB-ID	424433-3
ISSN	1532-7914 ; 0163-5581
ISSN (online)	1532-7914
ISSN	0163-5581
DOI	10.1080/01635581.2019.1577982
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Article ; Online: Failure of the Anti-Inflammatory Parasitic Worm Product ES-62 to Provide Protection in Mouse Models of Type I Diabetes, Multiple Sclerosis, and Inflammatory Bowel Disease.

Doonan, James / Thomas, David / Wong, Michelle H / Ramage, Hazel J / Al-Riyami, Lamyaa / Lumb, Felicity E / Bell, Kara S / Fairlie-Clarke, Karen J / Suckling, Colin J / Michelsen, Kathrin S / Jiang, Hui-Rong / Cooke, Anne / Harnett, Margaret M / Harnett, William

Molecules (Basel, Switzerland)

2018 Volume 23, Issue 10

Abstract: Parasitic helminths and their isolated secreted products show promise as novel treatments for allergic and autoimmune conditions in humans. Foremost amongst the secreted products is ES-62, a glycoprotein derived ... ...

Abstract	Parasitic helminths and their isolated secreted products show promise as novel treatments for allergic and autoimmune conditions in humans. Foremost amongst the secreted products is ES-62, a glycoprotein derived from
MeSH term(s)	Acanthocheilonema/chemistry ; Animals ; Anti-Inflammatory Agents/administration & dosage ; Anti-Inflammatory Agents/chemistry ; Diabetes Mellitus, Type 1/drug therapy ; Diabetes Mellitus, Type 1/pathology ; Disease Models, Animal ; Helminth Proteins/administration & dosage ; Helminth Proteins/chemistry ; Helminths/chemistry ; Humans ; Inflammatory Bowel Diseases/drug therapy ; Inflammatory Bowel Diseases/pathology ; Mice ; Multiple Sclerosis/drug therapy ; Multiple Sclerosis/pathology
Chemical Substances	Anti-Inflammatory Agents ; ES-62 protein, Acanthocheilonema viteae ; Helminth Proteins
Language	English
Publishing date	2018-10-17
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	1413402-0
ISSN	1420-3049 ; 1431-5165 ; 1420-3049
ISSN (online)	1420-3049
ISSN	1431-5165 ; 1420-3049
DOI	10.3390/molecules23102669
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Article: Dietary Intake of Nutrients Involved in One-Carbon Metabolism and Risk of Gastric Cancer: A Prospective Study

Nutrition and cancer. 2019 May 19, v. 71, no. 4

2019

Abstract	Dietary intakes of B vitamins and other components involved in one-carbon metabolism, which is necessary for DNA replication, DNA repair, and regulation of gene expression, may be associated with carcinogenesis. We investigated associations between intakes of 11 nutrients (thiamine, riboflavin, niacin, pantothenic acid, vitamin B6, biotin, folate, vitamin B12, methionine, choline, and betaine) and gastric cancer risk. A total of 159 incident gastric cancer cases were identified from the Melbourne Collaborative Cohort Study (N = 41,513) and matched with 159 controls on year of birth, sex, and country of birth using incidence density sampling. Dietary intakes of nutrients were estimated at baseline (1990–1994) using a 121-item food frequency questionnaire. Odds ratios (ORs) and 95% confidence intervals were estimated using conditional logistic regression models adjusting for Helicobacter pylori infection, and other potential confounders. We observed a positive association between intake of niacin and overall gastric cancer risk (OR = 1.33, 95%CI: 1.01–1.75 per SD increment). For thiamine, heterogeneity by subtype (cardia and non-cardia) was found (Phet = 0.05), with weak evidence of an inverse association with cardia cancer risk. Our results do not support increasing intakes of B vitamins or other nutrients involved in one-carbon metabolism to reduce gastric cancer risk in a well-nourished population.
Keywords	DNA repair ; DNA replication ; Helicobacter pylori ; betaine ; biotin ; carcinogenesis ; choline ; confidence interval ; folic acid ; food frequency questionnaires ; food intake ; gene expression regulation ; metabolism ; methionine ; niacin ; nutrients ; nutrition risk assessment ; odds ratio ; pantothenic acid ; prospective studies ; pyridoxine ; regression analysis ; riboflavin ; stomach neoplasms ; thiamin ; vitamin B12
Language	English
Dates of publication	2019-0519
Size	p. 605-614.
Publishing place	Taylor & Francis
Document type	Article
ZDB-ID	2025822-7
ISSN	1532-7914 ; 0163-5581
ISSN (online)	1532-7914
ISSN	0163-5581
DOI	10.1080/01635581.2019.1577982
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online ; Conference proceedings: Meningitis: latest developments.

Wong, Hazel E E / Hey, Ariann / Tang, Christoph M / Kroll, J Simon / Langford, Paul R

Future microbiology

2011 Volume 6, Issue 7, Page(s) 721–723

Abstract: The aim of the meeting was to consider the latest advances in meningitis, covering epidemiology, pathogenic mechanisms, host-interactive biology and vaccines in a variety of bacteria, fungi and protozoa that cause meningitis. The program was comprised of ...

Abstract	The aim of the meeting was to consider the latest advances in meningitis, covering epidemiology, pathogenic mechanisms, host-interactive biology and vaccines in a variety of bacteria, fungi and protozoa that cause meningitis. The program was comprised of speakers from the UK, as well as international presenters, who had been invited and offered selected papers. Owing to space limitations, only the four bacteria with multiple invited speakers will be considered here.
MeSH term(s)	Bacterial Infections/drug therapy ; Bacterial Infections/epidemiology ; Bacterial Infections/pathology ; Bacterial Infections/prevention & control ; Humans ; Meningitis/drug therapy ; Meningitis/epidemiology ; Meningitis/pathology ; Meningitis/prevention & control ; Mycoses/drug therapy ; Mycoses/epidemiology ; Mycoses/pathology ; Mycoses/prevention & control ; Protozoan Infections/drug therapy ; Protozoan Infections/epidemiology ; Protozoan Infections/pathology ; Protozoan Infections/prevention & control ; United Kingdom
Language	English
Publishing date	2011-07
Publishing country	England
Document type	Congresses
ISSN	1746-0921
ISSN (online)	1746-0921
DOI	10.2217/fmb.11.53
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