Dr. R. Brian Lowry Research Interests
My interests are those of prevalence trends of congenital anomalies in Alberta using the database of the Alberta Congenital Anomalies Surveillance System (ACASS). We participated in a seven province study of the Effects of Folic Acid Fortification on Neural Tube Defects. Results were published (see below). The observed reduction rate in the post fortification period was 46%. ACASS is also a member of the International Clearinghouse for Birth Defects Surveillance and Research and contributes and participates in collaborative research. Our data was one of 16 Registries which was published in the British Medical Journal 2006; 332:423-424 confirming the remarkable worldwide increase in prevalence rates of gastroschisis. We are also participating in research in craniofacial disorders, very rare defects and orofacial defects.
I also study the natural history of rare congenital syndromes and the delineation of new syndromes.
ACASS published a new annual report (2007) of the Alberta Congenital Anomalies Surveillance System (7th) 1980-2005. Obtainable on the website http://www.health.alberta.ca/resources/publications/ACASS 2007.pdf or in print form.
ACASS and/or Dept. members are actively involved in the organization of the Canadian Congenital Anomalies Surveillance Network (CCASN). Barbara Sibbald, Ruth Kohut and Brian Lowry are members of the Advisory Group and various Working Groups. Tanya Bedard is also a Working Group member. The Network is a subgroup of the Canadian Perinatal Surveillance System and the Public Health Agency of Canada and has it’s own website and newsletter. http://www.phac-aspc.gc.ca/ccasn-rcsac/index.html
Publications
Lowry RB. The fetal alert network. J Obstet Gynaecol Can. 2007; 29:307.
Mastroiacovo P, and 27 others including Lowry RB. Gastroschisis and associated defects: an international study. Am J Med Genet A; 2007; 143:660-671.
Ko EM, Lowry RB, Martin RH. Analysis of sperm karyotypes in a patient treated with griseofulvin. Arch Androl. 2007; 53:157-160.
Lowry RB, Gould DB, Walter AM, Savage PR. Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up. Am J Genet A 2007; 143:1227-1230.
De Wals P, and 12 others including Lowry RB and Sibbald B. Reduction in neural-tube defects after folic acid fortification in Canada. N Eng J Med. 2007; 357:135-142.
Lowry RB, Sibbald B, Bedard T. Stability of prevalence rates of anorectal malformations in the Alberta Congenital Anomalies Surveillance System 1990-2004. J Pediatr Surg. 2007; 42:1417-1421.
Lowry RB, Baker E, Dixon J, Hinton L. Familial retardation due to a cryptic subtelomeric translocation – del 14qter and dup qter (the Anyon phenotype). Clin Dysmorphol. 2007; 16:223-229.
De Wals P, and 13 others including Lowry RB and Sibbald B. Impact of folic acid fortification on the birth prevalence of lipomyelomeningocele in Canada. Birth Defects Res Clin Mol Teratol. 2007 Nov 29; (Epublication).
Sapp JC and five others including Lowry RB. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A. 2007; 143:2944-2958.
Doherty ES, and 20 others including Lowry RB. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A. 2007; 143:3204-3215.
Lowry RB. Prevalence of Anorectal malformations. Orphanet Journal of Rare Diseases. 2007: 2:33doi:1186/1750-1172-2-33.
Lowry RB, Sibbald B. The Fetal Alert Network: surveying congenital anomalies. Paediatr Child Health. 2007; 12:713.
Botto LD and 17 others including Lowry RB. Trends of selected malformations in relation to folic acid recommendations and fortification: an international assessment. Birth Defects Res A Clin Mol Teratol. 2006 Oct; 76:693-705.
Paquette D, Lowry RB, Sauve R. Two to three percent of infants are born with a congenital anomaly, but who’s counting? A national survey of congenital anomalies surveillance in Canada. Chronic Dis Can. 2006;27:36-38.
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MD, DSc, FRCPC (Pediatrics & Medical Genetics), FCCMG |
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