Abstract:
:For many years, all of the described cases of monoamine neurotransmitter deficiency were associated with hyperphenylalaninemia that was generally detected at neonatal screening. It is now clear that inherited deficiency of monoamines often occurs in the absence of hyperphenylalaninemia and that the normal battery of screening tests used to investigate individuals with suspected metabolic disease will not detect these cases. Diagnosis in this situation must rely heavily on clinical suspicion. This article, therefore, describes the presentation and clinical symptoms that result from defective monoamine neurotransmission; outlines therapeutic approaches; and explains how cerebrospinal fluid profiles of monoamine metabolites, their precursors, and the cofactor required for monoamine synthesis can be used to pinpoint the exact site of the metabolic lesion.
journal_name
Semin Perinatoljournal_title
Seminars in perinatologyauthors
Hyland Kdoi
10.1016/s0146-0005(99)80051-2keywords:
subject
Has Abstractpub_date
1999-04-01 00:00:00pages
194-203issue
2eissn
0146-0005issn
1558-075Xpii
S0146-0005(99)80051-2journal_volume
23pub_type
杂志文章,评审abstract::Cirrhosis and portal hypertension infrequently coincide with pregnancy but increase maternal and fetal morbidity and mortality when present. Chronic liver disease and portal hypertension are not contraindications to pregnancy but necessitate intensive monitoring throughout pregnancy. The complications of liver disease...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(98)80048-7
更新日期:1998-04-01 00:00:00
abstract::The renin angiotensin system (RAS) is now recognized as the body's most powerful hormone system for controlling renal hemodynamics and sodium excretion and, therefore, body fluid volumes and arterial pressure. The discovery of angiotensin converting enzyme inhibitors (ACEi) was a keystone for the understanding of the ...
journal_title:Seminars in perinatology
pub_type: 历史文章,杂志文章
doi:10.1016/s0146-0005(00)80046-4
更新日期:2000-02-01 00:00:00
abstract::The neurodevelopmental outcome of very low birth weight infants experiencing early-onset intraventricular hemorrhage (IVH) occurring within the first 6 postnatal hours was compared with that of their peers without early-onset IVH at 3 years corrected age. The 440 surviving preterm infants (birth weight 600 to 1,250 g)...
journal_title:Seminars in perinatology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1016/s0146-0005(99)80065-2
更新日期:1999-06-01 00:00:00
abstract::Perinatal health outcomes in the United States continue to worsen, with the greatest burden of inequity falling on Black birthing communities. Despite transdisciplinary literature citing structural racism as a root cause of inequity, interventions continue to be mostly physician-centered models of perinatal and reprod...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.semperi.2020.151267
更新日期:2020-08-01 00:00:00
abstract::The ductus arteriosus is a vital fetal structure designed to close shortly after birth. Although many physiologic and pharmacologic investigations have characterized the closure of this structure, genetic studies of persistent patency of the ductus arteriosus (patent ductus arteriosus, PDA) are relatively recent. Prog...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2011.09.019
更新日期:2012-04-01 00:00:00
abstract::Preterm births account for a substantial portion of infant mortality, the major difference in mortality between African-American and white births in the United States, and the key reason that US infant mortality exceeds that of other developed nations. Although preterm birth rates are higher in the African-American co...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(05)80039-4
更新日期:1995-08-01 00:00:00
abstract::Hydrops fetalis, a condition characterized by abnormal accumulation of fluid and edema in the fetus, is the final common pathway in a number of pathological conditions. The diagnosis of hydrops is based on ultrasonographic findings of generalized edema along with a serous effusion (ascites, pleural effusion, or perica...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(05)80053-9
更新日期:1995-12-01 00:00:00
abstract::For nearly 30 years the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Maternal-Fetal Medicine Units (MFMU) Network has been conducting randomized trials in pregnant women, many of which have changed clinical practice. Since 1986, the MFMU Network has conducted 29 randomized tr...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2016.03.011
更新日期:2016-08-01 00:00:00
abstract::Prostaglandins are currently used to maintain patency of the ductus arteriosus and to elicit uterine contractions. Prostaglandin synthesis inhibitors are used to promote closure of the ductus and their administration in pregnant animals has produced fetal pulmonary hypertension. Exposure of the human fetus to inhibito...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1987-01-01 00:00:00
abstract::Transplant recipients are becoming pregnant with increasing frequency, and successful pregnancy outcomes have now been reported for women with all types of solid organ transplants. To prevent rejection of the transplanted organ, these patients are maintained on a life-long immunosuppressive regimen that must also be c...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2007.09.006
更新日期:2007-12-01 00:00:00
abstract::Long-term sequelae of preterm birth have been studied extensively up until the age of 5 to 8 years. However, the cognitive development of adolescents born preterm has received limited attention. The objective of this study is to determine school performance in adolescents born very preterm. We have followed up a cohor...
journal_title:Seminars in perinatology
pub_type: 杂志文章
doi:10.1053/j.semperi.2004.08.007
更新日期:2004-08-01 00:00:00
abstract::We have hypothesized that an alteration in the production of endothelium-dependent factors by sex hormones is a potential unifying mechanism for both the decreased arterial contractility and the redistribution of cardiac output characteristic of normal pregnancy. Thus, the effect of pregnancy/ estradiol on any one vas...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(97)80003-1
更新日期:1997-10-01 00:00:00
abstract::Minimally invasive surgery has been one of the most important surgical advances in the last 15 years. The development of smaller instruments has allowed pediatric surgeons to apply this rapidly evolving technology to neonates. Congenital neonatal deformities including tracheoesophageal fistula, patent ductus arteriosu...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2004.03.008
更新日期:2004-06-01 00:00:00
abstract::Nuchal translucency (NT) describes an echo-free area, below the skin, in the posterior nuchal and back region of the fetus and is typically observed in the first and early second trimester of pregnancy. A wide NT has been correlated with chromosomal and congenital abnormalities in the fetus. An accurate NT measurement...
journal_title:Seminars in perinatology
pub_type: 杂志文章
doi:10.1053/j.semperi.2005.12.004
更新日期:2005-12-01 00:00:00
abstract::The primary methods currently in use for imaging the infant brain are cranial ultrasound (CUS), computed tomography (CT) and magnetic resonance imaging (MRI). This review outlines the relative strengths and weaknesses of these modalities in relation to the premature infant, with specific focus on the correlations betw...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2004.10.004
更新日期:2004-12-01 00:00:00
abstract::Postpartum hemorrhage is the leading cause of maternal morbidity and mortality worldwide. The majority of maternal deaths associated with hemorrhage could be preventable. The accurate assessment of blood loss, identification of risk factors and timely recognition of postpartum hemorrhage remain major challenges in obs...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2018.11.003
更新日期:2019-02-01 00:00:00
abstract::Here we provide a brief overview of the natural process of labor and its biochemical, hormonal, and mechanical characteristics that can be exploited in methods employed for induction of labor. ...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2015.07.001
更新日期:2015-10-01 00:00:00
abstract::Poor access to contraception can lead to several undesired health outcomes, including high rates of unintended pregnancy, high rates of teen pregnancy, spontaneous preterm delivery, preeclampsia and maternal death. Properly addressing these public health issues often require a coordinated response at the state governm...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.semperi.2020.151272
更新日期:2020-08-01 00:00:00
abstract::Acute renal failure in the newborn is a common problem and is typically classified as prerenal, intrinsic renal disease including vascular insults, and obstructive uropathy. In the newborn, renal failure may have a prenatal onset in congenital diseases such as renal dysplasia with or without obstructive uropathy and i...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2003.11.003
更新日期:2004-04-01 00:00:00
abstract::Medium- and long-term outcomes have been collected and described among survivors of neonatal intensive care units for decades, for a number of purposes: (1) quality control within units, (2) comparisons of outcomes between NICUs, (3) clinical trials (whether an intervention improves outcomes), (4) end-of-life decision...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2016.09.009
更新日期:2016-12-01 00:00:00
abstract::With 50-90% of pregnant women experiencing nausea and vomiting of pregnancy (NVP), the burden of illness can become quite significant if symptoms are under-treated and/or under-diagnosed, thus allowing for progression of the disease. The majority of these women will necessitate at least one visit with a provider to sp...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2014.08.014
更新日期:2014-12-01 00:00:00
abstract::Nitric oxide (NO) is intimately involved in vascular homeostasis through its antiplatelet, antiproliferative, and vasodilating actions. Because of these beneficial properties, methods of harnessing NO for the prevention of vascular injury responses, such as intimal hyperplasia, are being explored. One such method invo...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(00)80056-7
更新日期:2000-02-01 00:00:00
abstract::Newborn screening describes various tests that can occur during the first few hours or days of a newborn's life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system c...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2015.03.002
更新日期:2015-04-01 00:00:00
abstract::In this review the factors present in human amniotic fluid that may function to inhibit bacterial growth have been examined. It appears that several potential antibacterial systems are present. Lysozyme and B-lysin may significantly contribute to the killing of gram-positive bacteria. Whether or not the remaining anti...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1977-01-01 00:00:00
abstract::Concern over the influence of pregnancy-related alterations in hydration has prompted questions regarding the accuracy of using standard methods of determining body composition. We sought to investigate whether differences exist between body composition determined at 30 weeks and 39 weeks of gestation and postpartum, ...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(96)80027-9
更新日期:1996-08-01 00:00:00
abstract::Necrotizing enterocolitis (NEC) is a leading cause of morbidity and mortality among infants in the neonatal intensive care unit. Here we review the epidemiology and pathophysiology of NEC, with an emphasis on the latest research findings and potential areas for future research. NEC continues to be one of the most deva...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2008.01.004
更新日期:2008-04-01 00:00:00
abstract::Accurate assessment of fetal growth status requires the definition of an optimal standard, which represents the growth potential of the baby. Against this standard, individually 'customized' percentiles can be calculated. They improve the distinction between normal and abnormal, and help in our understanding and diagn...
journal_title:Seminars in perinatology
pub_type: 杂志文章
doi:10.1053/j.semperi.2003.12.002
更新日期:2004-02-01 00:00:00
abstract::In experienced hands, cranial ultrasonography (cUS) is an excellent tool to detect the most frequently occurring brain abnormalities in preterm and full-term neonates, to study the evolution of lesions, and to follow brain maturation. It enables screening of the brain and serial imaging in high-risk neonates. However,...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2009.10.002
更新日期:2010-02-01 00:00:00
abstract::In mammals, a master circadian clock resides in the suprachiasmatic nuclei of the anterior hypothalamus. The suprachiasmatic nuclei is composed of multiple, single-cell circadian oscillators, which, when synchronized, lead to coordinated circadian outputs that ultimately regulate overt rhythms. Several "clock genes" h...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/sper.2000.9122
更新日期:2000-08-01 00:00:00
abstract::Intrauterine growth restriction (IUGR), which complicates approximately 3% to 10% of all pregnancies leads to preferential hemodynamic changes in affected fetuses. Advanced ultrasound modalities allow reliable and reproducible assessment of the intrauterine fetal cardiac function. Among other methods, combined cardiac...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2008.02.010
更新日期:2008-06-01 00:00:00