Abstract:
:We report a term infant with Pompe disease presenting in the immediate newborn period. The infant was born at 40 weeks' gestation, weighing 3600 g to a 32 year-old black female. Infant presented at delivery with massive hypertrophic cardiomyopathy and pulmonary hypertension. Diagnosis was confirmed by low alpha-glucosidase activity. The histopathology and electron microscopic findings were consistent with Pompe disease. This is the second reported case of Pompe disease presenting at delivery.
journal_name
J Perinat Medjournal_title
Journal of perinatal medicineauthors
Noori S,Acherman R,Siassi B,Luna C,Ebrahimi M,Pavlova Z,Ramanathan Rdoi
10.1515/JPM.2002.081keywords:
subject
Has Abstractpub_date
2002-01-01 00:00:00pages
517-21issue
6eissn
0300-5577issn
1619-3997journal_volume
30pub_type
杂志文章abstract::This paper reviews data that support the effectiveness of the French approach of using risk scoring for evaluating the risk of preterm delivery. This approach, which was developed in 1969 and spread to obstetricians and midwives throughout France in the early 1970s, includes systematic information about the recognitio...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章,评审
doi:10.1515/JPM.1999.002
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE:The aim of the present study was to assess, in a population of dichorionic twin pregnancies with selective growth restriction, the effect of inter-twin differences by use of Doppler velocimetry and fetal growth discordancy on perinatal outcomes. METHODS:This was a retrospective study including dichorionic tw...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpm-2017-0253
更新日期:2018-11-27 00:00:00
abstract::A survey of the clinical records of fifteen fetuses with trisomy 21, six fetuses with trisomy 18, and two fetuses with trisomy 13 was made in order to find out typical patterns of fetal heart rate (FHR) possibly associated with these conditions. Antepartal FHR patterns of 55 normal pregnancies and intrapartal FHR patt...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpme.1982.10.5.242
更新日期:1982-01-01 00:00:00
abstract:OBJECTIVE:The receptor for advanced glycation end products, RAGE, plays an important role in the pathogenesis of several diseases. sRAGE, soluble receptor for advanced glycation end products, is an inhibitor of the pathological effect mediated via RAGE. The aim of this study was to assess the usefulness of measuring sR...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/JPM.2008.080
更新日期:2008-01-01 00:00:00
abstract::The last few decades have seen an unrelenting rise in caesarean section (CS) rates. In addition to an increase in numbers of CS performed worldwide, there has also been a change in the indications for CS, a reflection of changing times. A new dilemma facing obstetricians is the increasing demand for CS in the absence ...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章,评审
doi:10.1515/jpm-2012-0049
更新日期:2013-01-01 00:00:00
abstract:AIM:To identify factors associated with compliance of scheduled outpatient developmental follow-up appointments in an effort to better ensure future care. METHODS:This retrospective observational cohort study looked at patients born between January 7(th) 2006 and June 30(th) 2007 and discharged from a regional neonata...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/JPM.2009.135
更新日期:2009-01-01 00:00:00
abstract::Computerised cardiotocograph analysis has been used in our medical antenatal clinic for women with insulin dependent diabetes mellitus for five years. We had observed that many of the patients failed the computer criteria and wished to examine this finding in more detail. All cardiotocographs from 40 pregnant women wi...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpme.1998.26.2.102
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:Influenza presents with increased morbidity and mortality in children ≤5 months of age. Vaccination of caregivers is indicated, but immunization rates are estimated at only 30%. The 2009 New York State Neonatal Influenza Protection Act (NIPA) mandated offering of influenza vaccine to caregivers during the po...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpm-2014-0248
更新日期:2014-11-01 00:00:00
abstract:OBJECTIVES:To document pain expression characteristics in former preterm infants in the first year of life in whom systematic evaluation and treatment of pain was provided. METHODS:Data on the Modified Behavioral Pain Scale (MBPS), Visual Analogue Scale (VAS, crying time and heart rate were collected during immunizati...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/JPM.2005.078
更新日期:2005-01-01 00:00:00
abstract::The energy and redox states of placentas in newly anesthetized or sacrificed guinea pigs and sheep were compared with that of human placentas immediately after delivery. Subsequently the effect of ischemia was observed in both human and animal placentas. The influence of perfusion, using a fluid containing oxygenated ...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpme.1987.15.1.21
更新日期:1987-01-01 00:00:00
abstract:AIM:To explore whether the Groningen Protocol is clinically necessary, scientific, and ethically justified. RESULTS:The Groningen Protocol is clinically unnecessary because the withdrawal of life-sustaining treatment from seriously ill infants is already ethically accepted globally without the need for the Protocol an...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/JPM.2009.058
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Gestational weight gain (GWG) above the recently recommended ranges is likely to be related to adverse pregnancy outcomes and therefore a challenge in industrialized countries. AIMS:We conducted a systematic review on observational studies in order to gain more evidence on whether diets with lower caloric/p...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章,评审
doi:10.1515/jpm.2010.127
更新日期:2011-03-01 00:00:00
abstract::The neonatal outcome of 78 consecutive singleton pregnancies complicated by intrauterine growth retardation (IUGR) and gestational hypertension were compared with the outcome of 78 adequately matched pregnancies complicated by idiopathic IUGR. The rate of low (< 5) 1-minute Apgar scores was higher in infants born to h...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpme.1993.21.3.195
更新日期:1993-01-01 00:00:00
abstract::The influence of perinatal asphyxia in the secretion of atrial natriuretic factor (ANF) during the first 6 days of life, and its renal consequences are discussed. Comparison between 20 healthy term neonates and 19 with first--or second--degree hypoxic-ischemic encephalopathy (HIE) is made. Daily controls were performe...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00
abstract::Continuous transcutaneous carbon dioxide partial pressure (tcPco2) was monitored in 40 spontaneous labors. The electrode was attached by glue fixation. An interpretable tracing was obtained in 36 cases. All cases but 2 were normal pregnancies. Thirty-two patients had epidural analgesia while the others had no analgesi...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpme.1987.15.4.390
更新日期:1987-01-01 00:00:00
abstract::Background Little is known about the impact of peptic ulcer disease (PUD) on pregnancy. Our objective was to evaluate the effect of PUD on pregnancy and newborn outcomes. Methods A retrospective cohort study was carried out using the Healthcare Cost and Utilization Project (HCUP)-National Inpatient Sample (NIS) from t...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpm-2019-0344
更新日期:2020-03-26 00:00:00
abstract::Acute myocardial infarction (AMI) during pregnancy is usually transmural and occurs in late pregnancy with a peak incidence during the peripartum or postpartum periods. We report a pregnancy-related AMI, which occurring as early as the first trimester, was treated conservatively with antithrombotic and anti-ischemic d...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/JPM.2004.127
更新日期:2004-01-01 00:00:00
abstract::Dilatation of the fetal cerebral ventricles (ventriculomegaly) is a generic sonographic sign common to several pathological entities carrying different prognoses. The main causes of fetal ventriculomegaly are aqueductal stenosis, Chiari II malformation, Dandy-Walker complex and agenesis of the corpus callosum. Ventric...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章,评审
doi:10.1515/JPM.2004.002
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND:A known side effect of labour epidural analgesia (EDA) is maternal fever. It is unclear whether this has effects on the anti-infectious management of the neonate. METHODS:A systematic literature search and a hand search of abstract publications were conducted. Studies reporting sepsis evaluation or antibiot...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章,meta分析
doi:10.1515/jpm-2012-0064
更新日期:2012-11-01 00:00:00
abstract:AIMS:The goal of the present retrospective study was to examine the peripheral blood lymphocytes for expression of phenotypic and activation markers concerning the development of hypertension in pregnancy. METHODS:16 women (aged 25-43 years; mean 35.1) developing hypertension in the third trimester (week 25-34) have h...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/JPM.2000.050
更新日期:2000-01-01 00:00:00
abstract::The present experiments should show if vena caval occlusion (V. C. O.) results in a decrease in uterine blood flow and increase in uterine vascular resistance (UVR). We are further interested to know, if V. C. O. influences fetal heart rate (FHR) and fetal blood pressure (BP). ...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpme.1975.3.4.260
更新日期:1975-01-01 00:00:00
abstract:OBJECTIVE:In cohorts of infants with proven neonatal alloimmune thrombocytopenia (NAIT) an unusual high rate of preterm infants has been reported, raising the question of whether NAIT contributes to the high rate of intracranial hemorrhage in preterm infants. METHODS:We genotyped the HPA-1-allele in a large cohort of ...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/JPM.2002.023
更新日期:2002-01-01 00:00:00
abstract::Turbo spin echo technique is a sequence that enables T2 weighted magnetic resonance (MR) images to be obtained in a few seconds. The purpose of this study is to evaluate the usefulness of this sequence in the prenatal diagnosis of fetal urogenital abnormalities associated with oligohydramnios, which make the ultrasoun...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to evaluate cisterna magna size of the fetuses between 16 and 24 weeks of gestation, and to establish a normogram for cisterna magna measurements during gestation. METHODS:A prospective study of normal singleton pregnancies was established. Measurement of the fetal cisterna magn...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/JPM.2007.060
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:To estimate the influence of fetal growth restriction (FGR) on neonatal morbidity and mortality among premature discordant twin neonates. STUDY DESIGN:Our medical records (2002-2007) of preterm twins born at 24-37 weeks' gestation were reviewed. Significant discordance was defined as >15% difference in birth...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpm.2011.013
更新日期:2011-05-01 00:00:00
abstract::Eighteen women were referred for fetal karyotyping because of advanced maternal age (over 38 years) later than 23 weeks' gestation. In order to obtain more rapid karyotypes, cordocentesis rather than amniocentesis was performed. All procedures were successful, leading to the obtention of normal karyotypes in all cases...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
abstract:AIM:Previous data from our Kaulsdorf Cohort Study (KCS) suggest that early neonatal ingestion (1st week) of breast milk from diabetic mothers (diabetic breast milk, DBM) may increase the risk of being overweight and delay speech development in offspring of diabetic mothers (ODM). Late neonatal DBM ingestion (2nd-4th we...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/JPM.2006.095
更新日期:2006-01-01 00:00:00
abstract::Prematurity still remains one of the unsolved problems in obstetrics and is responsible for a majority of cases of perinatal morbidity and mortality. The use of indomethacin to stop uterine contractions and prevent premature delivery is based on the observation that indomethacin inhibits the release of prostaglandin w...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpme.1984.12.1.19
更新日期:1984-01-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to evaluate the clinical value of Kurjak’s Antenatal Neurodevelopmental Test (KANET), a new test for fetal neurodevelopment. METHODS:One hundred seventeen prenatal neurological tests were performed by the KANET scoring system between 28 and 38 weeks of gestation in 24 low-risk (24 ...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/jpm-2011-0251
更新日期:2013-03-01 00:00:00
abstract:AIM:To examine the gestational age-specific distribution of twin birth weight discordance. METHODS:We analyzed all liveborn twin sets between 28 and 40 weeks' gestation from the United States 1995-1998 Multiple Matched Birth Data Set compiled by the National Center for Health Statistics. We calculated the 50th and 95t...
journal_title:Journal of perinatal medicine
pub_type: 杂志文章
doi:10.1515/JPM.2005.022
更新日期:2005-01-01 00:00:00