Abstract:
:Inherited organic acidemias are a group of metabolic disorders currently being described and investigated as gas-liquid chromatography is applied to unexplained diseases of infancy and childhood. Common clinical presentations include attacks of ketoacidosis, unexplained metabolic acidosis, failure of normal development, seizures, and other neurologic abnormalities. Hyperglycinemia, hyperammonemia, and hypoglycemia are other laboratory findings frequently present. Diagnosis depends on examination of urine, and sometimes blood, by gas-liquid chromatography to measure concentrations of organic acids and organic acid derivatives. Prognosis in many cases is excellent if diagnosis is made promptly and the metabolic acidosis can be reversed. Recovery from neurologic deficits has frequently been seen. Long-term therapy is generally dependent on restricting precursors of the toxic organic acid which builds up as a consequence of the enzyme deficiency. If there is some enzyme activity retained or if alternate metabolic pathways exist, success with therapy is likely.
journal_name
Clin Perinatoljournal_title
Clinics in perinatologyauthors
Mahoney MJsubject
Has Abstractpub_date
1976-03-01 00:00:00pages
61-78issue
1eissn
0095-5108issn
1557-9840journal_volume
3pub_type
杂志文章,评审abstract::Two different care procedures are presented to raise the difficult question of whether we should completely reevaluate our paradigms of care in the perinatal period. In this thorough review, should we continue to use the same framework of beliefs in deciding on the benefits and risks of any care procedure? ...
journal_title:Clinics in perinatology
pub_type: 杂志文章
doi:
更新日期:1988-12-01 00:00:00
abstract::Prematurity is the leading cause of perinatal morbidity and mortality in the industrial world, occurring in 4% to 9% of all deliveries, a rate that has remained unchanged during the past decades. Despite the relative minority of obstetric patients affected by this problem, prematurity is responsible for approximately ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1998-09-01 00:00:00
abstract::Our current ability to predict neurologic outcome based on intrapartum information is very limited. Adding information on neurologic state during the first days of life adds powerfully to the ability to predict long-term outcome. Further enhancement of predictive abilities will require putting together into single stu...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1989-12-01 00:00:00
abstract::Dysphagia and aspiration are commonly encountered problems in the neonatal population. It is often multifactorial in nature and management should be tailored to the individual patient. Multiple causes should be considered, including anatomic abnormalities, neurologic/developmental delay, cardiopulmonary disease/infect...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2018.07.005
更新日期:2018-12-01 00:00:00
abstract::Cytomegalovirus (CMV) is reactivated in the lactating breast in up to 96% of CMV seropositive mothers. There is a relevant entity of postnatally acquired symptomatic CMV infection and disease of preterm infants through raw breast milk (BM). Actual data support negative influence on long-term cognitive development. Con...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2016.11.012
更新日期:2017-03-01 00:00:00
abstract::Multiple pregnancies represent a state of magnified nutritional requirements, resulting in a greater nutrient drain on maternal resources and an accelerated depletion of nutritional reserves. Maternal weight gain to 20 weeks and between 20 and 28 weeks has the greatest effect on birthweight in twin and triplet pregnan...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2005.02.005
更新日期:2005-06-01 00:00:00
abstract::This article discusses the historical background, epidemiology, and pathophysiology of meconium-stained amniotic fluid and provides current concepts in delivery room management of meconium-stained neonate including the current Neonatal Resuscitation Program guidelines. ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2012.09.004
更新日期:2012-12-01 00:00:00
abstract::Stridor, a common presenting sign of respiratory distress in a newborn, has many systemic causes. It may arise from the larynx or the tracheobronchial airway. This article presents the most common pathologic conditions in this anatomic region, with highlights on management. ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2018.07.015
更新日期:2018-12-01 00:00:00
abstract::Obstetric care providers and researchers have long relied on analysis of the fetal heart rate tracing for insight into the fetal neurologic status. Although a normal fetal heart rate tracing does provide reassurance of intact neurologic function, an abnormal pattern is a very poor predictor of newborn brain injury. In...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2009.06.006
更新日期:2009-09-01 00:00:00
abstract::Decades of research have led to the understanding of neonatal pulmonary physiology and have influenced the clinical care that neonatologists provide to the sick newborn. Advances in microprocessor technology have allowed for clinical access of the research-based measurements of neonatal pulmonary functions. These eval...
journal_title:Clinics in perinatology
pub_type: 杂志文章
doi:10.1016/s0095-5108(05)70102-0
更新日期:2001-09-01 00:00:00
abstract::Gastroesophageal reflux (GER) is considered physiologic and is a normal process; whereas, when aerodigestive consequences are associated, it is often interpreted as GER disease (GERD). However, the distinction between them remains a challenge in infants in the NICU. Reflux-type of symptoms are heterogeneous, and often...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2020.02.004
更新日期:2020-06-01 00:00:00
abstract::Total parenteral nutrition permits normal growth and development of the infant during the adaptive phase of the short bowel syndrome. Skilled nutritional support combined with a variety of medical and surgical manipulations facilitates survival of infants with as little as 15 to 20 cm of intestinal length. ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1986-03-01 00:00:00
abstract::Antepartum fetal surveillance with Doppler ultrasound of umbilical artery has shown significant diagnostic efficacy in identifying fetal compromise in pregnancies complicated with fetal growth restriction (FGR). Its effectiveness in decreasing perinatal mortality has been shown by randomized clinical trials (Level I e...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2010.12.004
更新日期:2011-03-01 00:00:00
abstract::MPR and ST are important options for patients who have multifetal pregnancies. Both procedures have been shown to be technically safe and result in acceptable pregnancy loss rates and GAs at delivery. An important caveat is that these findings are observed in centers that have vast experience performing this type of p...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0095-5108(03)00055-1
更新日期:2003-09-01 00:00:00
abstract::Neonatology has optimized medical outcomes for high-risk newborns yet neurodevelopmental outcomes continue to be a concern. Basic science, clinical research, and environmental design perspectives have shown the impact of the caregiving environment on the developing brain and the role of professional caregivers in prov...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2011.08.003
更新日期:2011-12-01 00:00:00
abstract::The nutritional support of gastrointestinal growth and function is an important consideration in the clinical care of neonatal infants. In most health infants, the provision of either breast milk or formula seems to support normal intestinal mucosal growth, but the most significant advantages of breast milk may be for...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0095-5108(03)00065-4
更新日期:2002-03-01 00:00:00
abstract::Normal pregnancy produces profound metabolic alterations that occur, in large part, by the conclusion of the first trimester. Although necessary to support the metabolic needs of the conceptus, the metabolic and cardiovascular changes of pregnancy are well established weeks before the metabolic needs of the fetus and ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1993-09-01 00:00:00
abstract::The treatment of cocaine abuse among pregnant women involves attention not only to the cocaine use, but also to the pregnancy and constellation of medical and social problems substance-abusing women experience. Writing about the needs of women who enter treatment for drug-dependence treatment, Reed has offered suggest...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1993-03-01 00:00:00
abstract::New knowledge has accumulated in recent years making it prudent to ask questions regarding current oxygenation policies and guidelines. Because new-born resuscitation affects so many individuals, and because resuscitation procedures may have dramatic consequences on infant and child health, intensified discussion and ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2004.04.021
更新日期:2004-09-01 00:00:00
abstract::Diagnostic and invasive procedures in premature infants may require general anesthesia. General anesthetics interfere with the development of the immature animal brain. Accelerated apoptosis, disturbed synaptogenesis, and cytoarchitecture are among the mechanisms suspected to underlie this phenomenon. The implications...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2019.08.002
更新日期:2019-12-01 00:00:00
abstract::Although therapies in addition to whole-body cooling are being developed to treat the neonate at risk for hypoxic-ischemic encephalopathy, we have no quickly measured serum inflammatory or neuronal biomarkers to acutely and accurately identify brain injury or to follow the efficacy of therapy. This review covers infla...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2016.04.008
更新日期:2016-09-01 00:00:00
abstract::The phenomenal developments in molecular genetics and technological refinements which have occurred over the past decade are revolutionizing the area of prenatal genetics. State-of-the-art care commences with comprehensive preconceptional counseling. Prenatal diagnosis is now feasible from the moment of conception onw...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1994-12-01 00:00:00
abstract::Our experience in the management of 138 infants with various causes of intestinal obstruction has provided us with important principles of diagnosis and treatments that we adhere to in the course of our practice. 1. The overall mortality of neonates suffering from intestinal obstruction should be fewer than 5 per cent...
journal_title:Clinics in perinatology
pub_type: 杂志文章
doi:
更新日期:1989-03-01 00:00:00
abstract::Based on the authors' review of the literature on pediatric postoperative pain assessment with special attention to groups of vulnerable infants, this article (1) reports on type of surgery and its relationship to postoperative pain intensity; (2) reviews the characteristics of existing postoperative pain instruments ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0095-5108(02)00015-5
更新日期:2002-09-01 00:00:00
abstract::Rhinitis is extremely common during pregnancy, and asthma is one of the most common potentially serious medical problems to complicate pregnancy. Cutaneous allergy (urticaria/angioedema and eczema) also may occur during pregnancy. All of these entities may worsen with pregnancy in some patients and appear to improve i...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1997-06-01 00:00:00
abstract::Billions of dollars are spent yearly in perinatal medicine on studies designed to improve outcomes for mothers and their neonates. However, implementing research findings is challenging and imperfect. Strategies for implementation must be multifaceted and comprehensive. These implementation challenges extend to, and a...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2018.01.003
更新日期:2018-06-01 00:00:00
abstract::The extensive data from animal models of BPD and specific aspects of lung injury have helped to expand and refine the concept of pathogenesis introduced by Northway et al. Given the complexity and heterogeneity of the human illness, it is unreasonable to presume that any single model or research group could elucidate ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1992-09-01 00:00:00
abstract::This article provides a roadmap for your quality measurement journey. It begins with a discussion of 3 approaches to measurement (improvement, accountability and research) and challenges readers to be clear about why they are measuring. Key milestones along the quality measurement journey are then presented and a fram...
journal_title:Clinics in perinatology
pub_type: 杂志文章
doi:10.1016/j.clp.2010.01.006
更新日期:2010-03-01 00:00:00
abstract::Historically, researchers studying the field of sleep have been divided into two main groups. The first group of sleep studies was based on behaviors and behavioral sleep. The second group of researchers based their studies on electroencephalogram EEG patterns and changes. With technologic advancements, a third group ...
journal_title:Clinics in perinatology
pub_type: 杂志文章
doi:10.1016/j.clp.2006.06.009
更新日期:2006-09-01 00:00:00
abstract::For more than 100 years, three principles have guided the treatment of neonatal asphyxia: maintain body heat, free air passages of obstructions, and stimulate respiration by supplying air to the lungs for oxygenation of the blood. This article addresses the question of which gas, air or 100% oxygen, is best supplied t...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2005.11.003
更新日期:2006-03-01 00:00:00