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Birth defects
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Congenital heart disease (CHD) affects ~ 1% of live births and is the most common birth defect. Although the genetic contribution to the CHD has been long suspected, it has only been well established recently. De novo variants are estimated to contribute to approximately 8% of sporadic CHD.
18p
vibransone
28-03-2024
2
2
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Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. It is considered a rare disease with an incidence rate of 1 in 1,000,000 births. There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts.
6p
vitiki
30-01-2024
2
2
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Part 2 book "Genetics in medicine" includes content: The molecular basis of genetic disease; the molecular, biochemical, and cellular basis of genetic disease; the treatment of genetic disease; developmental genetics and birth defects; cancer genetics and genomics; risk assessment and genetic counseling; prenatal diagnosis and screening; application of genomics to medicine and personalized health care; ethical and social issues in genetics and genomics.
315p
oursky09
08-11-2023
5
3
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Part 2 book "Genetics in medicine" includes content: The molecular basis of genetic disease; the molecular, biochemical, and cellular basis of genetic disease; the treatment of genetic disease; developmental genetics and birth defects; cancer genetics and genomics; risk assessment and genetic counseling; prenatal diagnosis and screening, .... and other contents.
315p
oursky05
20-09-2023
6
1
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Public health surveillance programs worldwide implement a variety of case-finding strategies, and many rely at least in part on International Classification of Diseases (ICD)-based diagnostic codes in administrative and clinical databases.
10p
visteverogers
24-06-2023
5
2
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Nonsyndromic orofacial clefts are one of the most common birth defects worldwide. It occurs as a result of genetic or environmental factors. This study investigates the genetic contribution to nonsyndromic cleft lip and/or palate through the analysis of family pedigrees.
9p
vinarcissa
21-03-2023
1
1
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Neural tube defects (NTDs) are the second most common birth defect in humans. Dietary folic acid (FA) supplementation effectively and safely reduces the incidence of these often debilitating congenital anomalies. FA plays an established role in folate and homocysteine metabolism, but the means by which it suppresses occurrence of NTDs is not understood.
9p
vinarcissa
21-03-2023
3
1
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Adenovirus protein, Gam1, triggers the proteolytic destruction of the E1 SUMO-activating enzyme. Microinjection of an empirically determined amount of Gam1 mRNA into one-cell Xenopus embryos can reduce SUMOylation activity to undetectable, but nonlethal, levels, enabling an examination of the role of this posttranslational modification during early vertebrate development.
19p
visilicon2711
20-08-2021
7
1
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Cleft lip (CL), one of the most common congenital birth defects, shows considerable geographic and ethnic variation, with contribution of both genetic and environmental factors. Mouse genetic studies have identified several CL-associated genes.
17p
viansan2711
30-07-2021
12
1
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Reported birth prevalences of congenital limb defects (CLD) vary between countries: From 13/10,000 in Finland for the period 1964–1977 to 30.4/10,000 births in Scotland from 1964–1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects.
14p
vianrose2711
26-04-2021
8
1
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MotherToBaby Utah is a teratogen information service that provides support for pregnant and breastfeeding women and healthcare providers regarding risks of exposures to medications, infections, herbals, homeopathic and dietary medications, chemicals and other substances.
6p
vienzym2711
30-03-2020
10
0
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With the increasing publicity of marijuana due to recent legislation, it is pertinent that the effects of fetal exposure to the drug are assessed. While in utero cannabis exposure has been associated with early pregnancy failure, birth defects and developmental delay, the mechanisms of such outcomes are largely unexplained.
13p
vienzym2711
30-03-2020
12
1
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The aims of the article is to estimate the prevalence rate and types of birth defects in Inner Mongolia, China, to compare socio-demographic characteristics among the children with birth defects and to analyze the association between risk factors and birth defects.
6p
virubber2711
21-03-2020
21
1
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Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors.
33p
vivalanbo2711
19-03-2020
14
1
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There currently exists no data on birth defects from population-based studies in Vietnam. Our study's aim was to assess external birth defect (EBD) prevalence among live newborns in Binh Thuan Province in Vietnam with the help of health workers at all levels of the health system.
10p
vivalanbo2711
19-03-2020
13
1
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Acute lower respiratory infections (ALRIs) are leading causes of hospitalisation in children. Birth defects occur in 5% of live births in Western Australia (WA). The association between birth defects and ALRI hospitalisation is unknown.
7p
vinatri2711
29-02-2020
5
1
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Previous studies on the mortality rate of omphalocele are limited. The risk of death of non-isolated omphalocele and that of cases of omphalocele that are diagnosed prenatally by ultrasound are unclear. This study aimed to estimate the perinatal mortality of pregnancies with omphalocele.
7p
vichengshin2711
29-02-2020
15
0
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Congenital hearing loss is one of the most frequent birth defects, and Early Detection and Intervention has been found to improve language outcomes. The American Academy of Pediatrics (AAP) and the Joint Committee on Infant Hearing (JCIH) established quality of care process indicators and benchmarks for Universal Newborn Hearing Screening (UNHS).
12p
vichengshin2711
26-02-2020
18
0
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Evidence shows exposure to ambient air pollution during pregnancy was associated with an increased risk of adverse birth outcomes, such as preterm birth, low birth weight and intrauterine growth retardation, but the results for birth defects have been inconsistent.
5p
vichengshin2711
26-02-2020
13
0
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Cleft lip and palate (CLP) is one of the most common birth defects. Multiple factors are believed to be responsible for an unfavorable dental arch relationship in CLP. Facial growth (maxillary) retardation, which results in class III malocclusion, is the primary challenge that CLP patients face.
8p
videshiki2711
19-02-2020
9
1
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