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Abdominal Wall Defects in Greenland 1989-2015.

https://arctichealth.org/en/permalink/ahliterature292123
Source
Birth Defects Res. 2017 Jul 03; 109(11):836-842
Publication Type
Journal Article
Date
Jul-03-2017
Author
Merete Bugge
Gitte Drachmann
Peder Kern
Esben Budtz-Jørgensen
Hans Eiberg
Britta Olsen
Niels Tommerup
Inge-Merete Nielsen
Author Affiliation
Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark.
Source
Birth Defects Res. 2017 Jul 03; 109(11):836-842
Date
Jul-03-2017
Language
English
Publication Type
Journal Article
Keywords
Abdominal Wall - physiopathology
Abnormalities, Multiple - epidemiology
Databases, Factual
Digestive System Abnormalities - complications
Female
Gastroschisis - complications - diagnosis - epidemiology
Greenland
Hernia, Umbilical - complications - diagnosis - epidemiology
Humans
Infant
Infant, Newborn
Male
Maternal Age
Pregnancy
Prevalence
Registries
Stillbirth
Abstract
In the last decades, an increasing rate of gastroschisis but not of omphalocele has been reported worldwide. Greenland is the world's largest island, but 80% is covered by an ice cap, it has a small population of around 56,000 peoples (as of 2016). The occurrence of abdominal wall defects has never been investigated in Greenland.
The present study is based on data retrieved from three nationwide and two local registries in the Greenlandic health care system over 27 years (1989-2015).
We identified 33 infants with abdominal wall defects born in the study time period. All cases were reclassified to 28 cases of gastroschisis, four cases of omphalocele, and there was 1 infant in the indeterminate group. The point prevalence at birth for gastroschisis increased significantly from 8 to 35 (average 10.7) per 10,000 liveborn and -stillborn infants. Mothers below 20 years of age represented 23% of all cases and the prevalence for this group was 17 per 10,000 liveborn and stillborn. Perinatal mortality for infants with gastroschisis was high (18%), and 1 year survival was 71%. For omphalocele, the prevalence varied from 8 to 11 per 10,000 liveborn and stillborn infants. There was no increasing rate in the period, further highlighting an etiological difference between gastroschisis and omphalocele.
This study confirms the increasing prevalence of gastroschisis in Greenland in the period from 1989 to 2015. The average was 10.7 per 10,000 liveborn and -stillborn infants and, to the best of our knowledge, this is the highest prevalence ever reported. Birth Defects Research 109:836-842, 2017. © 2017 Wiley Periodicals, Inc.
PubMed ID
28464537 View in PubMed
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Analysis of multiple congenital anomalies.

https://arctichealth.org/en/permalink/ahliterature65234
Source
Prog Clin Biol Res. 1990;340C:187-95
Publication Type
Article
Date
1990
Author
A. Czeizel
Author Affiliation
Department of Human Genetics and Teratology, National Institute of Hygiene, Budapest, Hungary.
Source
Prog Clin Biol Res. 1990;340C:187-95
Date
1990
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - epidemiology - genetics
Accidents
Female
Humans
Hungary - epidemiology
Mutation
Nuclear Reactors
Pregnancy
Pregnancy outcome
Registries
Ukraine
PubMed ID
2381924 View in PubMed
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An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study.

https://arctichealth.org/en/permalink/ahliterature176695
Source
Am J Med Genet A. 2005 Mar 15;133A(3):309-17
Publication Type
Article
Date
Mar-15-2005
Author
Karina A Issekutz
John M Graham
Chitra Prasad
Isabel M Smith
Kim D Blake
Author Affiliation
Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
Source
Am J Med Genet A. 2005 Mar 15;133A(3):309-17
Date
Mar-15-2005
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - epidemiology - mortality - pathology
Adolescent
Adult
Canada - epidemiology
Child
Choanal Atresia - pathology
Coloboma - pathology
Deafness - pathology
Ear - abnormalities
Female
Genitalia - abnormalities
Growth Disorders - pathology
Heart Defects, Congenital - pathology
Humans
Incidence
Male
Maternal Age
Morbidity
Paternal Age
Syndrome
Abstract
CHARGE syndrome is a well-characterized clinical diagnosis with recent data supporting a genetic etiology. A 3-year national surveillance coordinated by the Canadian Pediatric Surveillance Program (CPSP) was started in September 2001. Physicians notified the CPSP if they had cared for individuals with CHARGE syndrome within their practice, and then completed a detailed reporting form. To date, there are 77 confirmed cases of CHARGE syndrome. The highest provincial prevalence of CHARGE syndrome in Canada was estimated at 1 in 8,500 live births. Subgroups of cases with particular clusters of anomalies were identified. In older individuals, bilateral posterior choanal atresia (BPCA) was predictive of the presence of the three other major criteria and of aortic arch anomalies. Individuals with CHARGE syndrome who demonstrated a less extensive phenotype (
Notes
Comment In: Am J Med Genet A. 2005 Dec 1;139A(2):169; discussion 170-116278895
PubMed ID
15637722 View in PubMed
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An epidemiological study of congenital anorectal malformations: 15 Danish birth cohorts followed for 7 years.

https://arctichealth.org/en/permalink/ahliterature37624
Source
Paediatr Perinat Epidemiol. 1990 Jul;4(3):269-75
Publication Type
Article
Date
Jul-1990
Author
K. Christensen
C M Madsen
M. Hauge
K. Kock
Author Affiliation
University Institute of Medical Genetics, Odense University, Denmark.
Source
Paediatr Perinat Epidemiol. 1990 Jul;4(3):269-75
Date
Jul-1990
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - epidemiology - genetics - mortality - surgery
Anal Canal - abnormalities - surgery
Denmark - epidemiology
Diseases in Twins - epidemiology
Female
Humans
Infant, Newborn
Length of Stay
Longitudinal Studies
Male
Prevalence
Rectum - abnormalities - surgery
Survival Rate
Abstract
In the county of Fyn (about 500,000 inhabitants) which is a well defined and representative 10% sample of the total Danish population, 15 total birth cohorts were scrutinized for the occurrence of anorectal malformations (ARM). All the patients were followed until the age of 7 or death. In a total of 96,073 births, 29 cases were observed; one concordant monozygotic pair was counted as one case. The study showed the point prevalence at birth to be 3.0 per 10,000; almost the same frequency has been found in Sweden whereas other figures from Europe and North America are lower. Children with ARM have in general a poor prognosis, largely due to the many associated anomalies. In this material, 11 of 12 isolated ARM cases survived until age 7, but five of these had significant handicaps. Out of 17 probands with associated anomalies, only seven survived until age 7, all of them having some handicap. This group of patients spent at least 15 times more days in hospital than an age-matched group from the same region until age 7, and they underwent a considerable number of operations. The study showed an increased frequency of chromosome anomalies among children with ARM.
PubMed ID
2374746 View in PubMed
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An epidemiological study of Hirschsprung's disease and additional anomalies.

https://arctichealth.org/en/permalink/ahliterature35952
Source
Acta Paediatr. 1994 Jan;83(1):68-71
Publication Type
Article
Date
Jan-1994
Author
M B Russell
C A Russell
E. Niebuhr
Author Affiliation
Department of Neurology, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark.
Source
Acta Paediatr. 1994 Jan;83(1):68-71
Date
Jan-1994
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - epidemiology
Adolescent
Child
Denmark - epidemiology
Female
Hirschsprung Disease - epidemiology
Humans
Incidence
Infant
Male
Research Support, Non-U.S. Gov't
Abstract
The incidence of Hirschsprung's disease was studied in approximately 1.5 million consecutive live births in Denmark by hospital records. A diagnosis of Hirschsprung's disease required a histologic verified absence of ganglion cells in either biopsy or surgical colonic specimens. The incidence of Hirschsprung's disease was found to be 0.140 per 1000 live births (1:7,165) with a male: female ratio of 4.1:1 in short segment, and 2.4:1 in long segment Hirschsprung's disease (p = 0.36). Maternal age and birth order were unimportant factors. The association of Hirschsprung's disease and Down's syndrome was seen in 9 of the 207 patients and may represent a real association, whereas the association with congenital heart defects seen in 2% (not including patients with Down's syndrome) is more doubtful. A mortality of 16% among the patients with Hirschsprung's disease emphasizes the extreme importance of early diagnosis.
PubMed ID
8193476 View in PubMed
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An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births.

https://arctichealth.org/en/permalink/ahliterature244560
Source
Am J Hum Genet. 1981 May;33(3):470-8
Publication Type
Article
Date
May-1981
Author
P A Baird
E C MacDonald
Source
Am J Hum Genet. 1981 May;33(3):470-8
Date
May-1981
Language
English
Publication Type
Article
Keywords
Abdominal Muscles - abnormalities
Abnormalities, Multiple - epidemiology
British Columbia
Female
Hernia, Umbilical - epidemiology
Humans
Infant, Newborn
Male
Registries
Syndrome
Urogenital Abnormalities
Abstract
The records of an ongoing health surveillance registry that utilizes multiple sources of ascertainment were used to study the incidence rate of congenital malformations of the anterior abdominal wall in live-born children in British Columbia during the period 1964--1978 inclusive. No overall increase in incidence rate of these anomalies was detected during the study period. The estimated live-born incidence rates were: one in 4,175 live births for omphalocoele, one in 12,328 live births for gastroschisis, and one in 29,231 live births for prune belly. The data were analyzed with regard to sex and associated anomalies. Some practical implications regarding assessment of these infants are discussed.
Notes
Cites: Surg Gynecol Obstet. 1967 Oct;125(4):837-504227443
Cites: Can J Public Health. 1975 Jul-Aug;66(4):322-6125623
Cites: Birth Defects Orig Artic Ser. 1974;10(4):127-354283493
Cites: Lancet. 1976 Aug 14;2(7981):345-660574
Cites: Surgery. 1977 Nov;82(5):561-8144328
Cites: Lancet. 1978 Mar 25;1(8065):66076191
Cites: Lancet. 1979 Sep 1;2(8140):47089528
Cites: Lancet. 1980 Feb 9;1(8163):3176153445
Cites: Surgery. 1953 Jan;33(1):112-2013015321
Cites: Am J Hum Genet. 1953 Jun;5(2):168-7513065264
Cites: Dan Med Bull. 1963 May;10:75-913967064
Cites: Surgery. 1965 Feb;57:297-30114263805
PubMed ID
6454342 View in PubMed
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Apolipoprotein E polymorphism in a French Canadian population of northeastern Quebec: allele frequencies and effects on blood lipid and lipoprotein levels.

https://arctichealth.org/en/permalink/ahliterature211723
Source
Hum Biol. 1996 Jun;68(3):357-70
Publication Type
Article
Date
Jun-1996
Author
N. Robitaille
G. Cormier
R. Couture
D. Bouthillier
J. Davignon
L. Pérusse
Author Affiliation
Institut de Recherches sur les Populations (IREP), University of Quebec at Chicoutimi, Canada.
Source
Hum Biol. 1996 Jun;68(3):357-70
Date
Jun-1996
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - epidemiology - genetics
Adolescent
Adult
Age Distribution
Aged
Alleles
Analysis of Variance
Apolipoproteins A - blood - genetics
Data Collection
Ethnic Groups - genetics
Female
Humans
Lipids - blood
Lipoproteins - blood
Male
Middle Aged
Polymorphism, Genetic - genetics
Quebec - epidemiology
Regression Analysis
Sampling Studies
Sex Distribution
Abstract
Apolipoprotein E phenotypes and plasma lipid and lipoprotein levels were determined in 435 individuals (233 men, 202 women) of French Canadian descent living in northeastern Quebec. This region is known for its high frequency of mutant genes responsible for rare genetic disorders. Total cholesterol, low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglyceride levels were adjusted for age, height, weight, body mass index (BMI), and waist circumference using regressions performed separately in men and in premenopausal and postmenopausal women. The APOE allele frequencies in this population-based sample were 0.137, 0.749, and 0.114 for the *2, *3, and *4 alleles, respectively. APOE2 (APOE 2,2 and APOE 3,2) subjects had lower total and LDL cholesterol levels than APOE3 (APOE 3,3) subjects. In APOE4 (APOE 4,3 and APOE 4,4) men and postmenopausal women levels of total and LDL cholesterol and triglycerides were significantly higher than in the corresponding APOE3 subjects. The *2 allele was also found to be associated with higher triglyceride levels in men and postmenopausal women. Men of the APOE4 group also presented lower HDL cholesterol levels. Although the impact of APOE polymorphism on blood lipid and lipoprotein levels in this French Canadian population is similar to what has been reported in other white populations, the frequency of the *2 allele is among the highest ever reported. This finding is discussed in terms of the founder effect characterizing the Quebec population.
PubMed ID
8935317 View in PubMed
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Are congenital anorectal malformations more frequent in newborns conceived with assisted reproductive techniques?

https://arctichealth.org/en/permalink/ahliterature81639
Source
Reprod Toxicol. 2006 Nov;22(4):576-7
Publication Type
Article
Date
Nov-2006
Author
Midrio Paola
Nogare C Dalle
Di Gianantonio Elena
Clementi Maurizio
Author Affiliation
Pediatrics Surgery Unit, Clinical Genetics Service, Department of Pediatrics, University of Padova, via N Giustiniani 3, Padova, Italy.
Source
Reprod Toxicol. 2006 Nov;22(4):576-7
Date
Nov-2006
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - epidemiology - etiology
Adult
Age Factors
Anal Canal - abnormalities - surgery
Anus, Imperforate - etiology
Birth weight
Cloaca - abnormalities
Data Interpretation, Statistical
Diseases in Twins - etiology
Female
Fertilization in Vitro - adverse effects - methods
Gestational Age
Glottis - abnormalities
Humans
Infant, Newborn
Italy - epidemiology
Odds Ratio
Rectum - abnormalities - surgery
Registries - statistics & numerical data
Abstract
One of the major concerns about ART is the risk of birth defects in children born after in vitro fertilization. We report on a cohort of consecutive children affected with anorectal malformation (ARM) requiring surgical correction in which we found a significantly high proportion (Odds ratio 13.31, 95% confidence limits 4.0-39.6) of children born after ART. Our data is in agreement with the result of a recent epidemiological study in Sweden. Further studies are necessary to define the risk and identify the causes, if any. At present, couples undergoing ART should be informed of the general risk of congenital anomalies, of which, ARM can be suggested as an example.
PubMed ID
16815669 View in PubMed
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110 records – page 1 of 11.