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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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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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Bowel functional outcomes in females with perineal or vestibular fistula treated with anterior sagittal anorectoplasty: controlled results into adulthood.

https://arctichealth.org/en/permalink/ahliterature260391
Source
Dis Colon Rectum. 2015 Jan;58(1):97-103
Publication Type
Article
Date
Jan-2015
Author
Kristiina Kyrklund
Mikko P Pakarinen
Antti Koivusalo
Risto J Rintala
Source
Dis Colon Rectum. 2015 Jan;58(1):97-103
Date
Jan-2015
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Anal Canal - abnormalities - surgery
Child
Child, Preschool
Constipation - etiology
Cross-Sectional Studies
Fecal Incontinence - etiology
Female
Finland
Humans
Perineum - abnormalities - surgery
Questionnaires
Reconstructive Surgical Procedures
Rectal Fistula - congenital - surgery
Rectum - abnormalities - surgery
Treatment Outcome
Abstract
Anterior sagittal anorectoplasty is a standardized operative treatment for females with congenital rectoperineal or vestibular fistula. The controlled, long-term outcomes require characterization.
The aim of this study was to define the bowel functional outcomes following anterior sagittal anorectoplasty in relation to age- and sex-matched controls.
This cross-sectional study was conducted at a single institution.
All females treated for congenital perineal or vestibular fistula with anterior sagittal anorectoplasty between 1983 and 2006 were invited to answer a detailed, previously validated questionnaire on bowel function. Each patient was matched to 3 controls who had answered identical questionnaires. Ethical approval was obtained. Social continence was defined as soiling or fecal accidents
PubMed ID
25489700 View in PubMed
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Characteristics and associated anomalies in radial ray deficiencies in Finland--a population-based study.

https://arctichealth.org/en/permalink/ahliterature117224
Source
Am J Med Genet A. 2013 Feb;161A(2):261-7
Publication Type
Article
Date
Feb-2013
Author
Niklas Pakkasjärvi
Eeva Koskimies
Annukka Ritvanen
Yrjänä Nietosvaara
Outi Mäkitie
Author Affiliation
Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland. niklas.pakkasjarvi@helsinki.fi
Source
Am J Med Genet A. 2013 Feb;161A(2):261-7
Date
Feb-2013
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - diagnosis - genetics - mortality
Anal Canal - abnormalities
Chromosomes, Human, Pair 18
Esophagus - abnormalities
Female
Finland - epidemiology
Heart Defects, Congenital - diagnosis - genetics - mortality
Humans
Infant
Kidney - abnormalities
Limb Deformities, Congenital - diagnosis - genetics - mortality
Live Birth
Male
Prevalence
Spine - abnormalities
Stillbirth - genetics
Trachea - abnormalities
Trisomy - diagnosis
Abstract
Upper-limb defects with deficiencies of the radial ray have varying etiologies, with a low proportion of true Mendelian disorders. We carried out a population-based study to elucidate the birth prevalence and clinical spectrum of radial ray deficiencies in Finland. We identified all births with radial ray deficiency reported to the Finnish Register of Congenital Malformations in 1993-2005. Altogether 138 cases were identified (123 live births), with a birth prevalence of 1.83 per 10,000 births and a live birth prevalence of 1.64 per 10,000 live births. The proportion of infant deaths was as high as 35%. The majority of the cases were associated with known syndromes or multiple anomalies; only 13% were true isolated radial ray deficiencies. The most common syndrome was trisomy 18, and the most common in multiple anomalies was VACTERL association. In 8.7% of cases an association between radial ray deficiency and heart anomaly was observed. The high proportion of cases with associated major anomalies indicates that radial ray deficiency can be regarded isolated only after thorough assessment of the various organ systems in an affected infant.
PubMed ID
23322606 View in PubMed
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Congenital malformations in pigs in a post mortem material.

https://arctichealth.org/en/permalink/ahliterature56077
Source
Nord Vet Med. 1977 Mar;29(3):128-36
Publication Type
Article
Date
Mar-1977
Author
N. Bille
N C Nielsen
Source
Nord Vet Med. 1977 Mar;29(3):128-36
Date
Mar-1977
Language
English
Publication Type
Article
Keywords
Abnormalities - veterinary
Anal Canal - abnormalities
Animals
Bone Diseases, Developmental - veterinary
Central Nervous System - abnormalities
Denmark
Heart Defects, Congenital - veterinary
Rectum - abnormalities
Swine
Swine Diseases - epidemiology
Abstract
Pigs which died during the preweaning period in 17 herds were examined post mortem over a 2-year period. In total 6,669 pigs, including 1,884 stillborn, from 2,936 litters died. The total number of pigs born constituted 29,886. Congenital malformations were registered in 410 pigs equalizing 1.4 per cent of the pigs born (Table I). The various malformations were analysed and related to a number of herd parameters. The herd to herd variation was 0.6--2.4 per cent, with a mean of 1.4 per cent. The incidence of affected litters was 11.8 per cent, showing a variation between the herds of 6.4 to 17.6 per cent. The frequency of malformed pigs was found to be higher in closed herds as compared to herds in which breeding stock was purchased (1.6 per cent versus 1.2 per cent). The relative importance of the various malformations is presented in Table II. The individual malformations are discussed, and it is concluded that the present investigation cannot contribute to a further genetical elucidation. Test matings with closely related animals, which is unrealizable in commercially run herds, are needed for that purpose. About 70 per cent of the recorded malformations appeared as phenotypic and could easily be recognized by a laid person. Malformations may therefore persist on a fairly low level as long as natural insemination is used. The present level of hereditary malformations may easily change with an increasing use of artificial insemination, and systematic monitoring of malformations becomes imperative in avoiding an unacceptable increase in the frequency of malformations. In processing collected data from sow/litter records and boar records, the data processing program applied in this study is supposed to be suitable.
PubMed ID
870881 View in PubMed
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Currarino syndrome at Rikshospitalet 1961-2012.

https://arctichealth.org/en/permalink/ahliterature105917
Source
Tidsskr Nor Laegeforen. 2013 Nov 26;133(22):2364-8
Publication Type
Article
Date
Nov-26-2013
Author
Tom Monclair
Tryggve Lundar
Bjarne Smevik
Ingunn Holm
Karen Helene Ørstavik
Source
Tidsskr Nor Laegeforen. 2013 Nov 26;133(22):2364-8
Date
Nov-26-2013
Language
English
Norwegian
Publication Type
Article
Keywords
Anal Canal - abnormalities - surgery
Constipation - etiology - surgery
Digestive System Abnormalities - diagnosis - genetics - surgery
Homeodomain Proteins - genetics
Hospitals, State - statistics & numerical data
Humans
Magnetic Resonance Imaging
Mutation
Norway
Rectum - abnormalities - surgery
Sacrum - abnormalities - surgery
Syringomyelia - diagnosis - genetics - surgery
Tomography, X-Ray Computed
Transcription Factors - genetics
Abstract
Currarino syndrome is a rare hereditary condition with constipation as the main symptom. The typical patient has a combination of sacral, anorectal, intraspinal and presacral anomalies. Familial cases most often have a mutation in the MNX1 gene. The majority of Norwegian Currarino patients are treated at Rikshospitalet. This article gives an account of 50 years of experience with the condition.
The study is based on the medical records of patients with Currarino syndrome, as well as some first-degree relatives, from the period 1961-2012. We recorded the results of mutation analysis, X-ray of the sacrum, and ultrasound, MRI and/or CT scans, as well as the treatments administered.
We treated 29 patients over the period in question, and in addition identified seven healthy relatives with a mutation in MNX1 and one relative with a pathognomonic sacral anomaly. There were 15 familial and 14 sporadic cases. Fourteen familial cases and one of the sporadic cases were shown to have a mutation in the MNX1 gene. Phenotypic variation was pronounced, and we saw no obvious correlation between genotype and phenotype. Twenty-six of the patients had constipation and 15 underwent a colostomy. Fourteen patients required neurosurgical and seven urogenital interventions. No patients had malignant disease.
Patients with Currarino syndrome have a highly variable clinical presentation with constipation as the main problem. In patients with a familial syndrome, a mutation in the MNX1 gene can be expected.
PubMed ID
24287836 View in PubMed
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Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.

https://arctichealth.org/en/permalink/ahliterature123522
Source
Mol Vis. 2012;18:1301-11
Publication Type
Article
Date
2012
Author
Robertino Karlo Mateo
Royce Johnson
Ordan J Lehmann
Author Affiliation
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. robertin@ualberta.ca
Source
Mol Vis. 2012;18:1301-11
Date
2012
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics - pathology
Adult
Alleles
Anal Canal - abnormalities - pathology
Child, Preschool
Chromosomes, Human, Pair 9 - genetics
Coloboma - genetics - pathology
Ethnic Groups - genetics
Female
Founder Effect
Gene Frequency
Genetic Heterogeneity
Genotype
Homozygote
Humans
Hypertelorism - genetics - pathology
Linkage Disequilibrium
Manitoba
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Receptors, Interleukin - genetics
Sequence Analysis, DNA
Severity of Illness Index
Abstract
Manitoba Oculotrichoanal (MOTA) syndrome is an autosomal recessive disorder present in First Nations families that is characterized by ocular (cryptophthalmos), facial, and genital anomalies. At the commencement of this study, its genetic basis was undefined.
Homozygosity analysis was employed to map the causative locus using DNA samples from four probands of Cree ancestry. After single nucleotide polymorphism (SNP) genotyping, data were analyzed and exported to PLINK to identify regions identical by descent (IBD) and common to the probands. Candidate genes within and adjacent to the IBD interval were sequenced to identify pathogenic variants, with analyses of potential deletions or duplications undertaken using the B-allele frequency and log(2) ratio of SNP signal intensity.
Although no shared IBD region >1 Mb was evident on preliminary analysis, adjusting the criteria to permit the detection of smaller homozygous IBD regions revealed one 330 Kb segment on chromosome 9p22.3 present in all 4 probands. This interval comprising 152 SNPs, lies 16 Kb downstream of FRAS1-related extracellular matrix protein 1 (FREM1), and no copy number variations were detected either in the IBD region or FREM1. Subsequent sequencing of both genes in the IBD region, followed by FREM1, did not reveal any mutations.
This study illustrates the utility of studying geographically isolated populations to identify genomic regions responsible for disease through analysis of small numbers of affected individuals. The location of the IBD region 16 kb from FREM1 suggests the phenotype in these patients is attributable to a variant outside of FREM1, potentially in a regulatory element, whose identification may prove tractable to next generation sequencing. In the context of recent identification of FREM1 coding mutations in a proportion of MOTA cases, characterization of such additional variants offers scope both to enhance understanding of FREM1's role in cranio-facial biology and may facilitate genetic counselling in populations with high prevalences of MOTA to reduce the incidence of this disorder.
Notes
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PubMed ID
22690109 View in PubMed
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Gastrointestinal malformations in Funen county, Denmark--epidemiology, associated malformations, surgery and mortality.

https://arctichealth.org/en/permalink/ahliterature58520
Source
Eur J Pediatr Surg. 2002 Apr;12(2):101-6
Publication Type
Article
Date
Apr-2002
Author
E. Garne
L. Rasmussen
S. Husby
Author Affiliation
Epidemiology-IST, University of Southern Denmark, Odense, Denmark. Egarne@health.sdu.dk
Source
Eur J Pediatr Surg. 2002 Apr;12(2):101-6
Date
Apr-2002
Language
English
Publication Type
Article
Keywords
Abnormalities - epidemiology
Anal Canal - abnormalities
Denmark - epidemiology
Digestive System Abnormalities
Duodenal Diseases - epidemiology
Esophageal Atresia - epidemiology
Gastroschisis - epidemiology
Gestational Age
Hernia, Diaphragmatic - epidemiology
Hernia, Umbilical - epidemiology
Humans
Infant, Newborn
Intestinal Atresia - epidemiology
Morbidity
Prevalence
Prognosis
Abstract
AIM: To report the epidemiology, associated malformations, morbidity and mortality for the first 5 years of life for infants with gastrointestinal malformations (GIM). METHODS: Population-based study using data from a registry of congenital malformations (Eurocat) and follow-up data from hospital records. The study included livebirths, fetal deaths with a gestational age of 20 weeks and older and induced abortions after prenatal diagnosis of malformations born during the period 1980 - 1993. RESULTS: A total of 109 infants/fetuses with 118 GIM were included in the study giving a prevalence of 15.3 (12.6 - 18.5) cases per 10 000 births. Anal atresia was present in seven of the 9 cases with more than one GIM. There were 38 cases (35 %) with associated malformations and/or karyotype anomalies. Thirty-two of the 90 live-born infants died during the first 5 years of life with the majority of deaths during the first week of life. Mortality was significantly increased for infants with associated malformations or karyotype anomalies compared to infants with isolated GIM (p
PubMed ID
12015653 View in PubMed
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21 records – page 1 of 3.