Hermansky-Pudlak syndrome in pregnancy.

Abstract:

:Hermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition. Affected individuals may suffer from blindness, pulmonary fibrosis, colitis, and bleeding diathesis. Although it has been reported in various ethnic groups, HPS is most common in individuals from the northwest corner of Puerto Rico, with a carrier incidence of 1 in 21.

journal_name

Am J Perinatol

authors

Spencer J,Rosengren S

doi

10.1055/s-0029-1220777

subject

Has Abstract

pub_date

2009-10-01 00:00:00

pages

617-9

issue

9

eissn

0735-1631

issn

1098-8785

journal_volume

26

pub_type

杂志文章
  • Ultrastructure of human colostral cells.

    abstract::The ultrastructural architecture of colostral cells of mothers of pre- and full-term infants is described. The polymorphonuclears were engaged in vivid phagocytosis of fat droplets. Similar findings were observed on the macrophages. The lymphocytes appeared normal in size and ultrastructure. A small number of eosinoph...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-994162

    authors: Straussberg R,Hart J,Alexandrova S,Sirota L,Djaldetti M,Bessler H

    更新日期:1997-07-01 00:00:00

  • Accuracy and Reliability of Lung Ultrasound to Diagnose Transient Tachypnoea of the Newborn: Evidence from a Meta-analysis and Systematic Review.

    abstract:OBJECTIVE: Transient tachypnoea of the newborn (TTN) is one of the most common causes of neonatal respiratory distress (RD) during the newborn period. Chest radiography (CXR) is commonly used to rule out the diagnosis, but TTN is often misdiagnosed as neonatal respiratory distress syndrome (NRDS) on the basis of CXR al...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0040-1721134

    authors: Ma HR,Liu J,Yan WK

    更新日期:2020-11-26 00:00:00

  • Population study of the risk of fetal death and its relationship to birthweight, gestational age, and race.

    abstract::With more than 20,000 fetal deaths occurring annually in the United States, accurate epidemiological data concerning fetal death offer the potential to develop interventions aimed at saving a considerable number of fetuses. Currently, fetal death rates are determined by dividing the number of deaths by total births. T...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-994589

    authors: Ferguson R,Myers SA

    更新日期:1994-07-01 00:00:00

  • References Values of Fetal Heart Myocardial Volume by Three-Dimensional Ultrasound using Spatiotemporal Image Correlation and Virtual Organ Computer-Aided Analysis Methods and Their Applicability in Pregestational Diabetic Women.

    abstract:OBJECTIVE: To determine reference values for myocardial volume of the fetal heart using three-dimensional ultrasound with spatiotemporal image correlation (STIC) and virtual organ computer-aided analysis (VOCAL) and to assess their applicability in women with pregestational diabetes. STUDY DESIGN: This retrospective c...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0039-3400983

    authors: Melo Júnior JF,Bravo-Valenzuela NJ,Nardozza LMM,Peixoto AB,Mattar R,Martins WP,Pares DBDS,Araujo Júnior E

    更新日期:2019-12-13 00:00:00

  • Accurate ultrasonic estimation of fetal weight.

    abstract::The accuracy of eight ultrasonic fetal weight formulas were analyzed in 1099 fetuses who underwent real-time ultrasound examination within 72 hours prior to delivery. Shepard's formula was most consistently found to give the lowest systematic and random errors throughout all weight categories, though Deter's formula h...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-999944

    authors: Ott WJ,Doyle S,Flamm S

    更新日期:1985-07-01 00:00:00

  • Sex Difference in Mortality for Premature and Low Birth Weight Neonates: A Systematic Review.

    abstract:OBJECTIVE:Advances in neonatology have made possible the survival of neonates with lower gestational ages and birth weights. Nevertheless, findings remain of a sex difference in mortality for premature and low birth weight (LBW) neonates with male sex often associated with poorer outcome (the "male disadvantage"). Thro...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0037-1608876

    authors: Vu HD,Dickinson C,Kandasamy Y

    更新日期:2018-07-01 00:00:00

  • Outpatient oral misoprostol for prolonged pregnancies: a pilot investigation.

    abstract:UNLABELLED:We evaluated the effectiveness of oral misoprostol for outpatient cervical ripening and labor induction in prolonged pregnancies. We performed a randomized, double-blind, placebo-controlled study of women at 40 to 42 weeks' gestation with well-dated pregnancies, singleton gestations, Bishop scores less than ...

    journal_title:American journal of perinatology

    pub_type: 杂志文章,随机对照试验

    doi:10.1055/s-0029-1220790

    authors: Gaffaney CA,Saul LL,Rumney PJ,Morrison EH,Thomas S,Nageotte MP,Wing DA

    更新日期:2009-10-01 00:00:00

  • Society for Maternal-Fetal Medicine's Fellow Research Series 2018: Manuscripts of the Year.

    abstract:: ...

    journal_title:American journal of perinatology

    pub_type: 社论

    doi:10.1055/s-0038-1676585

    authors: Metz TD,Gill L,Silver RM,Society for Maternal-Fetal Medicine Fellowship Affairs Committee.

    更新日期:2019-01-01 00:00:00

  • Distribution of Late-Onset Neonatal Sepsis Pathogens Differs in Inpatient and Outpatient Settings.

    abstract:OBJECTIVE:We sought to examine pathogen distribution and clinical presentation of late-onset sepsis (LOS) at an urban tertiary care center. STUDY DESIGN:We performed a retrospective review of all culture-confirmed cases of LOS presenting to our institution from 2013 to 2017. Medical records were evaluated for demograp...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0038-1675643

    authors: Black CG,Tavares L,Stachel A,Ratner AJ,Randis TM

    更新日期:2019-09-01 00:00:00

  • Noninvasive determination of neonatal hyperbilirubinemia: standardization for variation in skin color.

    abstract::The estimation of plasma bilirubin concentration in neonates, using a transcutaneous, noninvasive jaundice meter, is significantly affected by many factors, such as gestational age, birthweight, phototherapy, and skin pigmentation. In an attempt to minimize the influence of skin color and hence circumvent the need for...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2008-1040751

    authors: Linder N,Regev A,Gazit G,Carplus M,Mandelberg A,Tamir I,Reichman B

    更新日期:1994-05-01 00:00:00

  • Evaluating Fundal Dominant Contractions on Spatiotemporal Electrohysterography as a Marker for Effective Labor Contractions.

    abstract:OBJECTIVE:To evaluate if fundal (F) dominance of the electrohysterogram is associated with vaginal delivery and lack of F dominance is associated with cesarean for labor dystocia. STUDY DESIGN:We conducted a prospective cohort study of nulliparous women in spontaneous labor at ≥36 weeks. Clinicians were blinded to ele...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0038-1675621

    authors: Edwards RK,Euliano NR,Singh S,LeDuke RC,Andrews WW,Jauk V,Subramaniam A,Szychowski JM

    更新日期:2019-07-01 00:00:00

  • Diagnosis of preterm rupture of membranes: is testing for alpha-fetoprotein better than ferning or nitrazine?

    abstract::This article evaluates the role of alpha-fetoprotein (AFP) testing in the diagnosis of ruptured membranes in the preterm patient. AFP is normally found in amniotic fluid and is not present in vaginal secretions. Testing for AFP in vaginal fluid was compared with nitrazine evaluation and ferning in two groups of preter...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-999500

    authors: Garite TJ,Gocke SE

    更新日期:1990-07-01 00:00:00

  • Glycemic Control and Pregnancy Outcomes in Women with Type 2 Diabetes Treated with Oral Hypoglycemic Agents.

    abstract::Objective There is limited data regarding the use of oral hypoglycemic agents (OHAs) in pregnant women with type 2 diabetes mellitus (T2DM). Study Design This was a retrospective cohort study of women with T2DM who were treated with OHA or insulin from the first trimester onward. Bivariate and multivariate logistic re...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0036-1597625

    authors: Feghali MN,Caritis SN,Catov JM,Scifres CM

    更新日期:2017-06-01 00:00:00

  • The risk for preterm labor in women receiving 17 alpha-hydroxyprogesterone caproate prophylaxis for preterm birth prevention.

    abstract::We sought to identify maternal or clinical characteristics of women likely to develop preterm labor (PTL) at <34 weeks' gestation while receiving 17 alpha-hydroxyprogesterone caproate (17P) prophylaxis. Current singleton gestations with prior preterm delivery enrolled for outpatient 17P administration at <27 weeks' ge...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0029-1243306

    authors: Joy S,Rhea DJ,Istwan NB,Desch CN,Stanziano G

    更新日期:2010-04-01 00:00:00

  • The use of 17 alpha-hydroxyprogesterone caproate (17p) in women with cervical cerclage.

    abstract::Our objective was to compare the incidence of recurrent spontaneous preterm delivery (SPTD) in patients with cervical cerclage treated with weekly 17 alpha-hydroxyprogesterone caproate (17P) injections versus daily outpatient nursing surveillance (ONS) without 17P. Included in this retrospective cohort study were sing...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2008-1064935

    authors: Rebarber A,Cleary-Goldman J,Istwan NB,Rhea DJ,Desch C,Russo-Stieglitz K,Saltzman DH

    更新日期:2008-05-01 00:00:00

  • Remifentanil analgesia during laser treatment for retinopathy of prematurity: a practical approach in neonatal intensive care unit.

    abstract:BACKGROUND:Retinopathy of prematurity (ROP) is a significant cause of childhood blindness. AIM:The aim of this study is to determine the feasibility of remifentanil analgesia during laser treatment of ROP performed in the neonatal intensive care unit (NICU). PATIENTS AND METHODS:Remifentanil was infused continuously ...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0034-1370348

    authors: Demirel N,Bas AY,Kavurt S,Celik IH,Yucel H,Turkbay D,Hekimoğlu E,Koc O

    更新日期:2014-11-01 00:00:00

  • Supplemental Oxygen Study: A Randomized Controlled Study on the Effect of Maternal Oxygen Supplementation during Planned Cesarean Delivery on Umbilical Cord Gases.

    abstract:OBJECTIVE: The aim was to determine the fetal umbilical blood gas effects of supplemental maternal oxygenation compared with room air (RA) during term planned cesarean delivery. METHODS: This is a prospective randomized controlled study of singleton planned cesarean deliveries randomized to receive supplemental oxygen...

    journal_title:American journal of perinatology

    pub_type: 杂志文章,随机对照试验

    doi:10.1055/s-0037-1606184

    authors: Simon VB,Fong A,Nageotte MP

    更新日期:2018-01-01 00:00:00

  • Predictive value of late decelerations for fetal acidemia in unselective low-risk pregnancies.

    abstract::We evaluated the clinical significance of late decelerations (LD) of intrapartum fetal heart rate (FHR) monitoring to detect low pH (< 7.1) in low-risk pregnancies. We selected two secondary and two tertiary-level institutions where 10,030 women delivered. Among them, 5522 were low-risk pregnancies. The last 2 hours o...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2004-837272

    authors: Sameshima H,Ikenoue T

    更新日期:2005-01-01 00:00:00

  • Providing Support for Neonatal Intensive Care Unit Health Care Professionals: A Bereavement Debriefing Program.

    abstract:OBJECTIVE: The aim of this study is to evaluate formal bereavement debriefing sessions after infant death on neonatal intensive care unit (NICU) staff. STUDY DESIGN: Prospective mixed methods study. Pre- and postbereavement debriefing intervention surveys were sent to clinical staff. Evaluation surveys were distribute...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0040-1716481

    authors: Hawes K,Goldstein J,Vessella S,Tucker R,Lechner BE

    更新日期:2020-09-07 00:00:00

  • Cerebral palsy in infants with asymmetric growth restriction.

    abstract::The relationship between low ponderal index and cerebral palsy was evaluated. National Collaborative Perinatal Project and University of California Child Health and Development Study data were analyzed. Associations between low ponderal index (ponderal index < 5% for gestational age) were evaluated in the combined pop...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-994129

    authors: Williams MC,O'Brien WF

    更新日期:1997-04-01 00:00:00

  • A longitudinal study of fetal head biometry.

    abstract::In this paper the results gathered in a longitudinal ultrasound study (LS) of fetal growth are presented. The study is unusual in design because of its homogeneity, the number of parameters recorded, the exact spacing between the examinations, and the number of examinations per subject. Information not available in th...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-999987

    authors: Jeanty P,Cousaert E,Hobbins JC,Tack B,Bracken M,Cantraine F

    更新日期:1984-01-01 00:00:00

  • The Association between Shirodkar Cerclage and Preterm Premature Rupture of Membranes in Singleton Pregnancies.

    abstract:OBJECTIVE: The aim of this study was to estimate if preterm premature rupture of membranes in women with cerclage is due to the cerclage itself or rather the underlying risk factors for preterm birth in this population. STUDY DESIGN: This was a retrospective cohort study of singleton pregnancies who underwent Shirodka...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0040-1710009

    authors: Muniz Rodriguez A,Pastor A,Fox NS

    更新日期:2020-05-23 00:00:00

  • A clinical scoring system to predict the development of bronchopulmonary dysplasia.

    abstract:OBJECTIVE:This study aims to develop a scoring system for the prediction of bronchopulmonary dysplasia (BPD). METHODS:Medical records of 652 infants whose gestational age and birth weight were below 32 weeks and 1,500 g, respectively, and who survived beyond 28th postnatal day were reviewed retrospectively. Logistic r...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0034-1393935

    authors: Gursoy T,Hayran M,Derin H,Ovali F

    更新日期:2015-06-01 00:00:00

  • Association of influenza vaccination on decreased stillbirth rate.

    abstract:OBJECTIVE:We have previously shown a decrease in the overall stillbirth rate at our institution in women receiving the seasonal influenza vaccine during pregnancy. The goal of this study was to ascertain factors associated with this decrease. STUDY DESIGN:This was a retrospective cohort study examining the stillbirth ...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0034-1544046

    authors: Wortman AC,Casey BM,McIntire DD,Sheffield JS

    更新日期:2015-05-01 00:00:00

  • Gestational Weight Gain: Association with Adverse Pregnancy Outcomes.

    abstract::Background It is unclear how adherence to the Institute of Medicine's (IOM) guidelines for weight gain affects pregnancy outcomes. Objective We investigated how weight gain outside the IOM's recommendations affects the risks of adverse pregnancy outcomes. Study Design We performed a secondary analysis of a prospective...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0036-1584583

    authors: Hannaford KE,Tuuli MG,Odibo L,Macones GA,Odibo AO

    更新日期:2017-01-01 00:00:00

  • Fetal and neonatal mortality among twin gestations in a Canadian population: the effect of intrapair birthweight discordance.

    abstract::The purpose of this study was to examine the association between intrapair birthweight discordance and fetal and neonatal mortality. This was a historical cohort study, using the Statistics Canada linked birth-infant death file. Twin births in Canada (excluding Ontario) for the period 1986-1997 were studied. Outcome m...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2005-870899

    authors: Wen SW,Fung KF,Huang L,Demissie K,Joseph KS,Allen AC,Kramer MS,Fetal and Infant Health Group of the Canadian Perinatal Surveillance System.

    更新日期:2005-07-01 00:00:00

  • Bleeding Complications and Mortality in Neonates Receiving Therapeutic Hypothermia and Extracorporeal Membrane Oxygenation.

    abstract:OBJECTIVE: The objective of this study was to compare complications and mortality in neonates with hypoxic ischemic encephalopathy (HIE) on extracorporeal membrane oxygenation (ECMO) who did and did not receive therapeutic hypothermia (TH). STUDY DESIGN: The Extracorporeal Life Support Organization registry was querie...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0037-1607197

    authors: Cuevas Guaman M,Lucke AM,Hagan JL,Kaiser JR

    更新日期:2018-02-01 00:00:00

  • Decreased Glutathione S-transferase Level and Neonatal Hyperbilirubinemia Associated with Glucose-6-phosphate Dehydrogenase Deficiency: A Perspective Review.

    abstract::Classically, genetically decreased bilirubin conjugation and/or hemolysis account for the mechanisms contributing to neonatal hyperbilirubinemia associated with glucose-6-phosphate dehydrogenase (G6PD) deficiency. However, these mechanisms are not involved in most cases of this hyperbilirubinemia. Additional plausible...

    journal_title:American journal of perinatology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0036-1585465

    authors: Al-Abdi SY

    更新日期:2017-02-01 00:00:00

  • Neonatal Biomarkers of Inflammation: Correlates of Early Neurodevelopment and Gait in Very-Low-Birth-Weight Preterm Children.

    abstract:OBJECTIVE:Neonatal biomarkers of inflammation were examined in relation to early neurodevelopment and gait in very-low-birth-weight (VLBW) preterm children. We hypothesized that preterm infants exposed to higher levels of neonatal inflammation would demonstrate lower scores on Bayley Scales of Infant Toddler Developmen...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0035-1557106

    authors: Rose J,Vassar R,Cahill-Rowley K,Hintz SR,Stevenson DK

    更新日期:2016-01-01 00:00:00

  • Postpartum myocardial infarction in a patient with antiphospholipid syndrome.

    abstract::Myocardial infarction in association with pregnancy in patients with the antiphospholipid syndrome has been reported once previously. Our patient, a 22-year-old multiparous woman, experienced a myocardial infarction in the postpartum period. She fulfilled the criteria for the diagnosis of the antiphospholipid syndrome...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-994522

    authors: Thorp JM Jr,Chescheir NC,Fann B

    更新日期:1994-01-01 00:00:00