Abstract：
:Neonatal hyperinsulinism (HI) is a clinical syndrome of pancreatic beta-cell dysfunction characterized by failure to suppress insulin secretion in the presence of hypoglycemia. Although rare, it is the most common cause for persistent hypoglycemia in the newborn period. Treatment can be extremely difficult, and partial pancreatectomy is frequently required to prevent recurrent hypoglycemia and irreversible brain damage. In the last 5 years much has been learned about the pathophysiology of this disease. In most patients, the disease is caused by recessive mutations in either of the 2 functional subunits of the beta-cell KATP channel (SUR1 or Kir6.2). Although in most families, the disease is transmitted as an autosomal recessive trait, a novel form of transmission, resulting in focal involvement of the pancreas has recently been described. Not all patients with HI have mutations in the KATP channel genes. An activating mutation in the "glucose sensor" glucokinase has recently been reported in one family with diazoxide-responsive autosomal dominant hyperinsulinemic hypoglycemia. Also, a new syndrome of hyperinsulinism associated with benign hyperammonemia was recently described and found to be caused by activating mutations in the glutamate dehydrogenase (GDH) gene (GLUD-1). Thus, the clinical syndrome of HI can be caused by mutations in 4 different genes and can be transmitted as either a recessive or a dominant trait. These findings aid in the therapeutic decision-making process and improve the accuracy and precision of genetic counseling. Despite these recent discoveries, however, the metabolic origin of the disease is still unknown in about 50% of cases.
journal_name
Semin Perinatoljournal_title
Seminars in perinatologyauthors
Glaser Bdoi
10.1053/sp.2000.6365keywords:
subject
Has Abstractpub_date
2000-04-01 00:00:00pages
150-63issue
2eissn
0146-0005issn
1558-075Xpii
S0146-0005(00)80030-0journal_volume
24pub_type
杂志文章,评审abstract：:This article reviews the literature on infectious diseases as a cause of stillbirth. Identifying a specific infection as a cause of stillbirth is limited by many obstacles. Nevertheless, "good faith" efforts estimate that approximately 9% to 15% of stillbirths are caused by infections. Infection may be especially impo...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/sper.2002.29839
更新日期：2002-02-01 00:00:00
abstract：:The cause for most cases of cerebral palsy is unknown. There are however, risk factors that have been associated with this chronic neuromuscular disease. The objective of this article is to review the maternal and fetal conditions (other than asphyxia and infection) strongly associated with increased rate of cerebral ...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/sper.2000.7052
更新日期：2000-06-01 00:00:00
abstract：:The words research and experimentation continue to have the power to evoke fear in potential subjects. But much of standard practice, particularly in critical care settings, involves interventions of unknown efficacy and safety. Innovation also abounds in practice settings, typically unchecked by prospective or retros...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1016/s0146-0005(98)80038-4
更新日期：1998-06-01 00:00:00
abstract：:The importance of omega-3 long chain polyunsaturated fatty acids in the perinatal period has been the focus of research for several decades. Infants born preterm miss out on the last trimester in utero transfer of omega-3 fatty acids and consequently have lower blood levels than infants born at term. Preterm infant fo...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/j.semperi.2019.06.004
更新日期：2019-11-01 00:00:00
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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：:Maternal obesity, excessive gestational weight gain, and preexisting diabetes are known risk factors for increased maternal and neonatal morbidity. These conditions are more prevalent in certain racial and ethnic minorities. Identification and acknowledgement of racial and ethnic inequalities related to maternal metab...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/j.semperi.2017.04.005
更新日期：2017-08-01 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
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journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/j.semperi.2011.02.017
更新日期：2011-08-01 00:00:00
abstract：:Retinopathy of Prematurity (ROP) is a preventable neovascular retinal disease with a lifetime impact on vision and ocular morbidities. Retinal vessel immaturity and oxygen therapy, influenced or modulated by several risk factors including oxidative stress, intermittent hypoxia and desaturations, inflammation, infectio...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/j.semperi.2019.05.009
更新日期：2019-10-01 00:00:00
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journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/j.semperi.2018.12.005
更新日期：2019-03-01 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
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journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1992-12-01 00:00:00
abstract：:Neonatal hyperbilirubinemia is a normal postnatal phenomenon resulting from a transitional imbalance between the production and elimination of bilirubin in the neonate. Bilirubin has been shown to be not only a potent antioxidant, but also toxic at excessive concentrations. As a result, the biology of bilirubin, its p...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/sper.2001.23197
更新日期：2001-04-01 00:00:00
abstract：:Obstetric hemorrhage is often a sudden, life-threatening event. Successful management hinges on both preoperative preparation if hemorrhage is anticipated as well as knowledge of interventions. Uterine-sparing techniques, such as aggressive and early use of uterotonics, balloon tamponade, uterine compression sutures, ...
journal_title：Seminars in perinatology
pub_type： 杂志文章
doi：10.1053/j.semperi.2008.12.006
更新日期：2009-04-01 00:00:00
abstract：:Tumors are a rare but important cause of mortality and morbidity in the neonate. There is a wide spectrum of benign and malignant tumors that can occur, some of which have a unique presentation and behavior in this age group. It is important to recognize that tumors such as stage IVS neuroblastoma, which have a good p...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1016/s0146-0005(97)80026-2
更新日期：1997-02-01 00:00:00
abstract：:Candida is a leading cause of late onset infection (> 3 days of age) in the premature infant. Therefore, decisions about the diagnosis and management of infections caused by Candida are commonplace in the neonatal intensive care unit. Despite this fact, there are few comparative trials about treatment of neonatal Cand...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1016/s0146-0005(03)00060-0
更新日期：2003-10-01 00:00:00
abstract：:Up to the immediate past, and perhaps even to the present, a major difference between care of the fetus and of the neonate was the ability to examine directly the physical and biochemical traits of the unborn patient. In a span of time as short as perhaps 10 years it has become progressively possible to institute almo...
journal_title：Seminars in perinatology
pub_type： 杂志文章
doi：
更新日期：1989-08-01 00:00:00
abstract：:Morbidly adherent placenta, which describes placenta accreta, increta, and percreta, implies an abnormal implantation of the placenta into the uterine wall. The incidence of placenta accreta has increased significantly over the past several decades, with the main risk factors include prior cesarean section and placent...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/j.semperi.2013.06.014
更新日期：2013-10-01 00:00:00
abstract：:Medical and psychological indications for lactation suppression are discussed, and methods for lactation suppression are evaluated. Medical indications for lactation suppression include 1) maternal anatomical abnormalities, such as inadequate secretory tissue and inverted nipples; 2) maternal breast infections and tu...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1979-07-01 00:00:00
abstract：:Up to half of all aortic dissections and ruptures in women younger than 40 years are associated with pregnancy. In pregnancy, women with aortic disease such as arteritis and aortitis are at significant risk of aneurysmal formation and dissection with potential for catastrophic outcomes. Pregnancy places predisposed wo...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/j.semperi.2014.04.019
更新日期：2014-08-01 00:00:00
abstract：:The incidence of twins, triplets, and high-order multiples has increased dramatically in the last two decades secondary to greater reliance on fertility treatments and to delayed childbearing. Offspring of a multiple gestation are at increased risk for both chromosomal and structural abnormalities. Prenatal diagnosis ...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/j.semperi.2005.08.005
更新日期：2005-10-01 00:00:00
abstract：:Adverse birth outcomes such as preterm birth, low-birth weight, and infant mortality continue to disproportionately affect black and poor infants in the United States. Improvements in healthcare quality and access have not eliminated these disparities. The objective of this review was to consider societal factors, inc...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/j.semperi.2017.07.002
更新日期：2017-10-01 00:00:00
abstract：:Peri-viable birth raises an array of complex moral and legal concerns. This article discusses the problem with defining viability, touches on its relationship to abortion jurisprudence, and analyzes a few interesting normative implications of current medical practice at the time of peri-viable birth. ...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/j.semperi.2013.07.009
更新日期：2014-02-01 00:00:00
abstract：:This review evaluates and compares, by using the best available medical evidence, the risks and benefits of postnatal steroid use in very low birth weight infants. Systemic postnatal steroids are effective at reducing the risk of chronic lung disease in ventilated very low birth weight infants; they appear to be most ...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/sper.2001.29034
更新日期：2001-12-01 00:00:00
abstract：:The future health of infants and children is dependent on the performance of clinical research in which infants participate. Achieving a proper balance between this social good and the obligation to protect infants who participate in research is a significant challenge. As investigators design and implement research p...
journal_title：Seminars in perinatology
pub_type： 杂志文章
doi：10.1053/j.semperi.2009.07.003
更新日期：2009-12-01 00:00:00
abstract：:Late preterm infants (34-37 weeks gestation) pose unique challenges to physicians and nurses involved in their care after birth. They may be cared for in different units within hospitals after birth, including Neonatal Intensive Care Units, Newborn Nurseries, or rooming in with the mother. As a result of their gestati...
journal_title：Seminars in perinatology
pub_type： 杂志文章
doi：10.1053/j.semperi.2006.01.014
更新日期：2006-02-01 00:00:00
abstract：:The rapid rise of novel coronavirus disease 2019 (COVID-19) cases led the American Society for Reproductive Medicine (ASRM) to recommend immediate cessation of all new fertility treatment cycles on March 17, 2020. Controversial from the start, providers and patients expressed their opposition through online petitions,...
journal_title：Seminars in perinatology
pub_type： 杂志文章
doi：10.1016/j.semperi.2020.151288
更新日期：2020-11-01 00:00:00
abstract：:Experience gathered over the last decade from high-risk centers provide strong evidence that mid-trimester sonographic markers are sensitive for Down syndrome prediction. More recent data indicate that combining mid trimester sonography with traditional serum markers significantly improves diagnostic accuracy over eit...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/sper.2003.50013
更新日期：2003-04-01 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：:Cesarean birth (CB) rates are rising, globally. The global burden of CB is having a mixed effect on pregnancy outcomes and requires significant clinical and economic resources. The context of CB care in low- and middle-income countries is further complicated by barriers to facility-based care itself, followed by issue...
journal_title：Seminars in perinatology
pub_type： 杂志文章,评审
doi：10.1053/j.semperi.2019.03.015
更新日期：2019-08-01 00:00:00
