Abstract:
:Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topics requiring further study in both clinical cataract therapy and basic lens research. Advances in genetic screening and surgical technologies have improved the diagnosis, management, and visual outcomes of affected children. For example, mutations in lens crystallins and membrane/cytoskeletal components that commonly underlie genetically inherited cataracts are now known. However, many questions still remain regarding the causes, progression, and pathology of neonatal cataracts. Further investigations are also required to improve diagnostic criteria for determining the timing of appropriate interventions, such as the implantation of intraocular lenses and postoperative management strategies, to ensure safety and predictable visual outcomes for children. Birth Defects Research 109:734-743, 2017. © 2017 Wiley Periodicals, Inc.
journal_name
Birth Defects Resjournal_title
Birth defects researchauthors
Li J,Xia CH,Wang E,Yao K,Gong Xdoi
10.1002/bdr2.1050subject
Has Abstractpub_date
2017-06-01 00:00:00pages
734-743issue
10issn
2472-1727journal_volume
109pub_type
杂志文章,评审abstract:BACKGROUND:Most states have now passed legislation mandating pulse oximetry for all newborns, or have promulgated regulations or guidelines to encourage use of routine pulse oximetry. State-based birth defects registries may be well positioned to track and evaluate critical congenital heart disease (CCHD) screening cov...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1108
更新日期:2017-11-01 00:00:00
abstract::The AV7909 vaccine, consists of the Anthrax Vaccine Adsorbed (AVA) bulk drug substance and the immunostimulatory Toll-like receptor 9 agonist oligodeoxynucleotide adjuvant CPG 7909. The purpose of this research was to evaluate the potential maternal, reproductive, and developmental toxicity of AV7909 in rats to suppor...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1815
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:As a result of human socioeconomic activity, industrial wastes have increased distressingly. Plastic pollution is globally distributed across the world due to its properties of buoyancy and durability. A big health hazard is the sorption of toxicants to plastic while traveling through the environment. Two br...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1779
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:My career goal in 1971 was to learn about the causes of malformations. Attending the annual meetings of the Teratology Society and reading the articles in Teratology exposed me to the scientists and clinicians involved in this research and the methods being used. METHODS:Over a period of 49 years (1972-2020...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1667
更新日期:2020-07-15 00:00:00
abstract:BACKGROUND:During the Zika virus (ZIKV) outbreak, an urgent need existed for strong partnerships to disseminate Zika-related information to pregnant women and women of child-bearing age. METHODS:The Centers for Disease Control and Prevention (CDC) partnered with MotherToBaby, a national organization experienced in pro...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1787
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND:Few published studies are reported for the neurobehavioral toxicity of combined exposure to fungicides in mammals. This study was aimed to re-evaluate the reproductive and neurobehavioral effects of maternal exposure to combined imazalil (IMZ) and thiabendazole (TBZ) with fixed-dose of TBZ in mice. METHODS:...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1793
更新日期:2020-12-01 00:00:00
abstract::The aerodigestive and communicative behaviors of anencephalic and hydranencephalic patients are assessed from literature sources and are compared with documented neural structures present in the brainstem, subcortical, and cortical regions of the brain. Much of the data analyzed corroborate previous neurological studi...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1424
更新日期:2019-01-15 00:00:00
abstract:BACKGROUND:The tetanus toxoid, reduced diphtheria toxoid, and acellular pertussis (Tdap) vaccine is recommended during pregnancy to protect newborns against pertussis infection in the months prior to their primary pertussis vaccination. Although research on the safety of the vaccine has been reassuring, most previous s...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1642
更新日期:2020-03-01 00:00:00
abstract:BACKGROUND:To objectively describe craniofacial, visual, and neurological features associated with amniotic band syndrome (ABS) and discuss likely associated multifactorial etiology. METHODS:A retrospective review of patients identified with ABS and concomitant limb involvement and craniofacial features was conducted....
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1576
更新日期:2019-11-15 00:00:00
abstract:BACKGROUND:Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS:...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdra.23586
更新日期:2017-01-20 00:00:00
abstract:BACKGROUND:This is the first study to utilize the index of concentration at the extremes (ICE) to examine risk factors for spina bifida in Texas. The ICE is a useful measure for providing the degree to which residents in a certain area are concentrated into groups at the extremes of disadvantage and privilege. We intro...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1374
更新日期:2019-08-15 00:00:00
abstract::The World Health Organization currently recommends quinine+clindamycin for use against malaria in the first trimester. This may soon change to recommending artemisinin-based combination therapies (standard duration of dosing = 3 days). The non-artemisinin partner drugs include amodiaquine, lumefantrine, mefloquine, pi...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1035
更新日期:2017-08-15 00:00:00
abstract:BACKGROUND:Maternal smoking or passive smoking during gestation increases the risk of congenital birth defects, including neural tube defects (NTDs). Cigarette smoke is a recognized teratogen that causes NTDs, although the mechanisms are not well understood. METHODS:An established model of passive smoking in pregnant ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1804
更新日期:2021-01-01 00:00:00
abstract::In 2016, Centers for Disease Control and Prevention (CDC) established surveillance of pregnant women with Zika virus infection and their infants in the U.S. states, territories, and freely associated states. To identify cases of Zika-associated birth defects, subject matter experts review data reported from medical re...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1767
更新日期:2020-11-01 00:00:00
abstract::OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of OEIS is unknown. Virtually all cases are sporadic, and specific asso...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1512
更新日期:2019-07-01 00:00:00
abstract::Evidences indicate that the decline of female fertility is becoming a common problem over the past few decades. Environmental exposure of Bisphenol A (BPA) has been considered as an endocrine-disrupting chemical deleteriously affecting human reproductions. To better understand the effect of BPA exposure on human ovari...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1817
更新日期:2020-12-01 00:00:00
abstract::Birth defects are the leading cause of infant death in the United States and among the top causes of pediatric death and hospitalization. Despite the devastating impact of birth defects, we understand little of their etiology impeding progress towards treatment and prevention. Moreover, while surgical interventions ha...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdra.23590
更新日期:2017-01-30 00:00:00
abstract:OBJECTIVES:To explore the technical aspects and clinical utility of early fetal echocardiography and screening of the fetal heart in early pregnancy. Also, to document differences in cardiac structure and function which can be demonstrated in the late first/early second trimesters. METHODS:In addition to summarizing o...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1414
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:Despite the numerous reports on the limb body wall complex (LBWC), this association has never been adequately defined. Amniotic bands (AB) are frequently present but their role remains unclear. Since most reports were based on clinical and often subjective diagnoses, the aim of this work was to define LBWC a...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1442
更新日期:2019-03-01 00:00:00
abstract:BACKGROUND:The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secon...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1065
更新日期:2017-09-01 00:00:00
abstract:BACKGROUND:Hypospadias is a common birth defect that might be caused by inadequate fusion of the urethral folds in the process of male external genital development. We intended to discover the crucial long noncoding RNAs (lncRNAs) regulating autophagy from the gene expression profile of the genital tubercle (GT) of dib...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1863
更新日期:2021-01-15 00:00:00
abstract::Cytomegalovirus (CMV) is a DNA herpesvirus that is common worldwide. The two known main sources of primary CMV infection during pregnancy are through sexual activity and contact with young children. Primary infection occurs in approximately 1 to 4% of pregnancies, and is mostly asymptomatic in immunocompetent adults. ...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdra.23601
更新日期:2017-03-15 00:00:00
abstract:BACKGROUND:Breastfeeding women who are prescribed with psychotropic medications on a regular basis are often concerned, regarding the possible implications of such treatment on the breastfed infant. A mother's well-being has a direct influence on the well-being of the baby. However, the notorious reputation of psychotr...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1077
更新日期:2017-07-17 00:00:00
abstract:OBJECTIVES:Strategies for conducting juvenile dose ranging studies before definitive toxicity juvenile animal studies (JAS) have evolved, but the aim of demonstrating study design robustness and efficient animal use remains the same. The objective of dose selection is to identify a strategy to achieve consistent system...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1856
更新日期:2020-12-14 00:00:00
abstract:BACKGROUND:Recent advances in genomics methodologies, in particular the availability of next-generation sequencing approaches have made it possible to identify risk loci throughout the genome, in particular the exome. In the current study, we present findings from an exome study conducted in five affected individuals o...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdra.23596
更新日期:2017-01-20 00:00:00
abstract::Maternal-neonate separation for human newborns has been the standard of care since the last century; low birth weight and preterm infants are still routinely separated from their mothers. With advanced technology, survival is good, but long-term developmental outcomes are very poor for these especially vulnerable newb...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1530
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:The aim of this study is to evaluate the association of TGFA TaqI polymorphism with nonsyndromic cleft lip and/or palate (NSCLP) in an Iranian population. METHODS:In this case-control study, 113 children with NSCLP and 209 controls were included. Genotyping of the TaqI polymorphism was performed by polymera...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1125
更新日期:2017-10-16 00:00:00
abstract::Antibody-like biopharmaceuticals cross the placenta by utilizing existing transport pathways (e.g., FcRn receptor). There are limited data evaluating this transfer during organogenesis in any species. Understanding placental transfer of antibody-like biopharmaceuticals can help to predict risk of developmental toxicit...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1615
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:Zika virus has recently emerged as a novel cause of microcephaly. CDC has asked states to rapidly ascertain and report cases of Zika-linked birth defects, including microcephaly. Massachusetts added head circumference to its birth certificate (BC) in 2011. The accuracy of head circumference measurements from...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1174
更新日期:2018-03-15 00:00:00
abstract:BACKGROUND:Infants of diabetic mothers have been shown in several studies to have an increased frequency of malformations. In previous studies, an increased frequency of several specific malformations has been noted, including anencephaly, bilateral renal agenesis, and double outlet right ventricle. Surveillance, used ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1155
更新日期:2018-01-01 00:00:00