[Interdisciplinary treatment of early-onset ornithine transcarbamylase (OTC) deficiency. Two case reports and a review].

Abstract:

PATIENT REPORTS:We report on a male preterm infant (gestational age 31 weeks, birth weight 1420 g) and a male term infant (gestational age 38 weeks, birth weight 3680 g) with ornithine transcarbamylase (OTC) deficiency. After inconspicuous cardiopulmonary adjustment, both entered a state of metabolic crisis with respiratory insufficiency and ventilatory requirement at the 2nd and 4th day of life, respectively. Diagnosis of hyperammonemia (NH(3) > 1000 micromol/l) was followed by the detection of a plasma amino acid pattern that is typical for OTC-deficiency and an excessive orotic aciduria. Beside intravenous treatment (insulin-glucose-infusion, lipid infusion, sodium benzoate, arginine, L-carnitine), the preterm infant received an exchange transfusion and was supplied with central venous catheters, hemofiltration and hemodialysis. He died after severe disturbances of circulation and coagulation at the 14th day. The male term infant tolerated the effective hemofiltration and was dicharged home with specific therapy at day 26. CONCLUSIONS:Time of diagnosis and influence of additional risk factors are decisively for the prognosis of OTC-deficiency. The immediate aims of therapy (stabilization of vital functions, reduction of plasma ammonium, control of nutrition) can only be realized in cooperation between neonatology, division of metabolism, pediatric nephrology and pediatric surgery.

authors

Hübler A,Seidel J,Patzer L,Bellstedt K,Schramm D

doi

10.1055/s-2001-19056

subject

Has Abstract

pub_date

2001-11-01 00:00:00

pages

236-41

issue

6

eissn

0948-2393

issn

1439-1651

journal_volume

205

pub_type

杂志文章
  • [Pregnant Women with Gestational Diabetes in Berlin - An Analysis of Perinatal Data Especially Regarding Immigration Background].

    abstract::To date there has not been a systematic analysis of pregnant patients with an immigrant background and gestational diabetes in Germany, even though the number of these patients has been rising continuously since the 1980s. METHODS:The case number estimate for this prospective study targeted 160 patients with gestatio...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/a-1270-8258

    authors: Hees KA,Podkaminskij S,Breckenkamp J,Borde T,Klapp C,Henrich W,David M

    更新日期:2020-11-02 00:00:00

  • [Magnetocardiography--a possible supplementary method for early detection of fetal distress in high-risk pregnancies].

    abstract::Ever since the first report on fetal magnetocardiography by Kariniemi in 1974 numerous studies have examined cardiac activity in healthy fetuses using this technique. Recently there has been an increase in reports on the identification of fetal pathological states, in particular in the diagnosis of fetal arrhythmias, ...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-2005-837799

    authors: Schiermeier S,van Leeuwen P,Lange S,Hatzmann W

    更新日期:2005-02-01 00:00:00

  • Uterine activity monitoring during labour--a multi-centre, blinded two-way trial of external tocodynamometry against electrohysterography.

    abstract:PURPOSE:The aim of this study was to determine the quality of intrapartum uterine activity (UA) monitoring in daily practice during the first and second stages of labour. The total duration of inadequate UA monitoring is quantified in relation to the technique applied, namely, external tocodynamometry (TOCO) or electro...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章,多中心研究

    doi:10.1055/s-0031-1291210

    authors: Reinhard J,Hayes-Gill BR,Schiermeier S,Löser H,Niedballa LM,Haarmann E,Sonnwald A,Hatzmann W,Heinrich TM,Louwen F

    更新日期:2011-10-01 00:00:00

  • [Management of dichorionic twin delivery at term with cephalic-presenting first twin - a monocentric retrospective cohort study].

    abstract:OBJECTIVE:To assess neonatal outcome and delivery mode in dichorionic twin delivery at term with a cephalic-presenting first twin. METHODS:A retrospective cohort study of 308 twin deliveries after 37 completed weeks of gestation with a cephalic-presenting first twin undertaken in one perinatal center with active manag...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-0030-1267218

    authors: Dudenhausen JW,Golic M,Kirschner R,Brauer M

    更新日期:2010-10-01 00:00:00

  • [Prevention of neonatal anemia with recombinant human erythropoietin: a cost-benefit analysis].

    abstract::A few years ago recombinant human erythropoietin (rh-EPO) has been introduced for the prophylaxis of anaemia of prematurity. Aim of this controlled study was a cost-effectiveness analysis of the prophylaxis with rh-EPO versus sole transfusion with packed red blood cells. In the study group 33 infants (gestational age ...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 临床试验,杂志文章

    doi:

    authors: Schefels J,Merz U,Hörnchen H

    更新日期:1999-12-01 00:00:00

  • [Comparison of International Guidelines For the Application of Cardiotocography].

    abstract:OBJECTIVE:This study examines the recommendations of international guidelines on the use of antepartum and intrapartum cardiotocography. MATERIAL AND METHODS:The guidelines of Germany, Canada, UK, USA, Sri Lanka, Australia as well as FIGO have been compared. The recommendations on the use of cardiotocography were sepa...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-0043-122945

    authors: Schulten PS,Suppelna JP,Dagres T,Noè G,Anapolski M,Reinhard J,Krentel H,Tempfer C,Schiermeier S

    更新日期:2018-04-01 00:00:00

  • [Bilateral renal agenesis in insulin-dependent maternal diabetes mellitus (IDDM)--a case report].

    abstract::We report a fetal bilateral renal agenesis in a woman suffering from insulin-dependent diabetes mellitus. Early diagnosis of this lethal congenital anomaly allows well-timed termination of pregnancy. Transvaginal sonography in combination with color flow mapping render possible an accurate diagnosis of bilateral renal...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:

    authors: Ruhland F,Ohlinger R,Radmann D,Heinrich J

    更新日期:1998-11-01 00:00:00

  • [The lactobacilli-protection system of pregnant women--efficient prevention of premature births by early detection of disturbances].

    abstract:BACKGROUND:The most frequent cause of preventable early premature births (< 32 + 0 gestational weeks) is urogenital tract infection (UTI). Screening for UTI and Chlamydia are now standard examinations. Detection of ascending genital infections, especially bacterial vaginosis, plays an ever-increasing role. Lactobacilli...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-2005-871305

    authors: Saling E,Schreiber M

    更新日期:2005-08-01 00:00:00

  • Geburtshilfliche Notfälle – eine neue Serie zum Neuen Jahr.

    abstract::Liebe Leserinnen und Leser,vielleicht befinden Sie sich in der Ausbildung zum Facharzt für Gynäkologie und Geburtshilfe oder erinnern sich noch gut daran. Ein großer Anteil der Weiterbildung findet in einer Klinik statt, und man fürchtet den ersten Dienst. Man steht am Kreißbett und ist stets respektvoll gespannt, geb...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/a-0734-4708

    authors: de Sousa MT

    更新日期:2018-12-01 00:00:00

  • [Conservative treatment of puerperal breast abscesses with repeated sonographically guided aspirations and oral antibiotic administrations].

    abstract:BACKGROUND:Breast abscesses have usually been treated by incision and drainage. During the past 10 years conservative treatment with repeated ultrasound-guided drainage to evacuate the abscess combined with antibiotic treatment has become a valuable alternative. PATIENTS AND METHODS:From 1991 to 2003 the authors treat...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 临床试验,杂志文章

    doi:10.1055/s-2004-832636

    authors: Rageth CJ,Ricklin ES,Scholl B,Saurenmann E

    更新日期:2004-10-01 00:00:00

  • [Obstetric aspects of maternal hepatitis C infection].

    abstract::The present study discusses problems of maternal infection with hepatitis C virus in pregnancy with respect to the recent publications on this subject. In particular, questions of vertical transmission during pregnancy and fetal infection sub partu are discussed using three cases as an example. It was shown that recen...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章,评审

    doi:

    authors: Herzog S,Meden H,Harms K,Kuhn W

    更新日期:1996-11-01 00:00:00

  • [Breech presentation - more than just caesarean vs. spontaneous birth].

    abstract::The cesarean section rate and the associated complications are still rising in Germany. An important indication is term breech in singletons. Not significant data concerning a higher morbidity or mortality in vaginal breech birth indicate the cesarean but a deficit in education and experience. ...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-0032-1309052

    authors: Louwen F,Leuchter LM,Reitter A

    更新日期:2012-08-01 00:00:00

  • [The relationship between body weight, body height, body mass index and weight gain during pregnancy].

    abstract:BACKGROUND:The weight gain during pregnancy is influenced by maternal body weight and height. With this study we want to illustrate the relationship between weight, height, body mass index (BMI) and the weight gain in pregnancy. MATERIALS AND METHODS:Data of about 2.3 million singleton pregnancies were taken from the ...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-2007-981236

    authors: Voigt M,Straube S,Olbertz D,Häuser B,Schneider KT

    更新日期:2007-08-01 00:00:00

  • [Measured quantities in perinatal medicine--the base excess].

    abstract:BACKGROUND:There are convincing data from neonatal studies that the base excess (BE, mmol/L) measured in capillary or cord blood offers special diagnostic and prognostic power in the new-born compromised by hypoxia. For computation of BE the hemoglobin concentration (Hb, %), the oxygen saturation (%) and the distributi...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 临床试验,杂志文章

    doi:10.1055/s-2005-871217

    authors: Roemer VM

    更新日期:2005-06-01 00:00:00

  • The Effect of Asthma Severity on Perinatal Outcomes: A Tertiary Hospital Experience.

    abstract:OBJECTIVE:To evaluate the effect of asthma severity and disease exacerbation on pregnancy outcomes. MATERIALS AND METHODS:Pregnancies were classified into 3 groups as mild (n=195), moderate (n=63), and severe (n=26) according to preconceptional asthma severity. Demographic features, clinical characteristics, and perin...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/a-1264-8207

    authors: Tanacan A,Fadiloglu E,Celebioglu ED,Orhan N,Unal C,Celik T,Kalyoncu AF,Beksac MS

    更新日期:2020-10-14 00:00:00

  • [Intrapartum Foetal Heart Rate Monitoring and Rate of Caesarean Section: A National Survey].

    abstract:INTRODUCTION:The rate of Caesarean section has dramatically increased in recent decades. Foetal scalp blood sampling and computer software analysing foetal heart rate detection should help in the decision-making for or against Caesarean section. The main aim of this study was to examine how these 2 factors influence th...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-0044-102227

    authors: Schiermeier S,Frisenda S,Reinhard J,Dagres T,Noé KG,Lobmaier S,Schneider KTM,Daumer M

    更新日期:2018-06-01 00:00:00

  • [Hodgkin's disease in pregnancy--case report and literature review].

    abstract::We report the case of a 24-year-old Gravida II/Para I who was diagnosed with Hodgkin's disease (stage 2A) at week 28 of pregnancy. Due to clinical progression, a dose-reduced adriamycin, bleomycin, vincristin, dacarbazine chemotherapy was started at week 32. After unsuccessful induction of labor at week 35, secondary ...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-2003-39153

    authors: Schäffer M,Hegenbart U,Klostermann K,Stepan H

    更新日期:2003-03-01 00:00:00

  • [Lavage with exogenous surfactant in neonatal meconium aspiration syndrome].

    abstract:BACKGROUND:Meconium aspiration syndrome is a disease in near term infants which requires invasive techniques to decrease mortality. Lavage of the tracheobronchial tree with exogenous surfactant has been shown to be effective in animal studies. We studied the effectiveness of this technique in newborn infants and compar...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-2002-20945

    authors: Schlössser RL,Veldman A,Fischer D,Allendorf A,von Loewenich V

    更新日期:2002-01-01 00:00:00

  • [Maternal Tumor Disease as a Reason for Repeated Test Failure in Cell-Free DNA Screening].

    abstract::Noninvasive prenatal testing (NIPT) is a screening test for fetal chromosome disorders. Recent studies show an incidental detection of maternal malignancies in NIPT diagnostics, where the simultaneous presence of multiple aneuploidies is described as an NIPT "anomaly". In this case, the diagnosis of a maternal tumor d...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/a-0850-0650

    authors: Karge A,Graupner O,Abel K,Kuschel B

    更新日期:2019-06-01 00:00:00

  • [Osteonecrosis and HELLP-Syndrome].

    abstract:BACKGROUND:In 25 % of patients who develope gestosis a Hemolysis- Elevated- Liver-enzymes-and- Low- Platelet-count-Syndrome (HELLP-Syndrome) may occur, which is characterized by activation of the coagulation mechanism and bone marrow alterations. Besides this therapeutical steroid application and an elevated age of pri...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-2003-45172

    authors: Jäger M,Wild A,Krauspe R

    更新日期:2003-11-01 00:00:00

  • [Intrapartum therapy-resistant fetal bradycardia--color Doppler sonographic diagnosis of umbilical cord compression due to fetal grasping].

    abstract::Fetal heart rate pathology is seen in up to 40% of complications of the umbilical cord. We report a case in which long lasting bradycardia was associated with fetal grasping of the umbilical cord. Using colour doppler, the reason for the bradycardia could be detected. After vibro-acoustic stimulation the fetus release...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:

    authors: Heyl W,Rath W

    更新日期:1996-01-01 00:00:00

  • [Sleeping position for preterm infants].

    abstract::Supine sleeping is recommended to prevent the sudden infant death syndrome (SIDS). Low birth weight infants are at increased risk for SIDS, which is increased further if they are placed prone. Prone sleeping, however, also has advantages for preterm infants, such as a reduced apnoea rate, an increased lung volume and ...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1004610

    authors: Poets CF,Bodman Av

    更新日期:2008-02-01 00:00:00

  • [Can subpartal fetal acidosis be avoided? Investigations on the complex causes of intrauterine asphyxia].

    abstract:OBJECTIVE:The extent to which faulty medical treatment and defective apparatus are concomitant causes for the development of subpartal acidosis was investigated in a retrospective study. At the same time, the incidence of acidosis in the Lippe-Detmold Hospital, Department of Gynaecology and Obstetrics, its morbidity an...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-2002-34962

    authors: Roemer VM,Mähling B

    更新日期:2002-09-01 00:00:00

  • [Meckel-Gruber syndrome].

    abstract::The lethal Meckel-Gruber-Syndrome can be diagnosed prenatally during ultrasound screening between 16 and 20 weeks of pregnancy. Two case reports of Meckel-Gruber-Syndrome are given, which demonstrate the importance of a reliable ultrasound examination. The results supply the basis for an adequate counseling of the pat...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:

    authors: Flessa A,Rempen A,Schmausser B,Marx A

    更新日期:1996-03-01 00:00:00

  • [Evaluation of quantitative ultrasonometry of bone in singleton and multiple pregnancies].

    abstract:OBJECTIVE:During pregnancy about 30 grams of calcium are transferred to a full-term neonate. The enormous demand for calcium can be regulated by compensatory mechanisms in the maternal metabolism such as elevated steroid hormone levels, increased intestinal absorption of dietary calcium, and renal conservation, but als...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-2006-951742

    authors: Hellmeyer L,Anderer G,Ziller V,Wagner U,Schmidt S,Hadji P

    更新日期:2006-10-01 00:00:00

  • [Chorangioma of the Placenta - A Rare Placental Cause of Fetal High Output Cardiac Failure].

    abstract::Chorangiomas of the placenta, benign tumors of chorionic tissue, are a rare placental cause of adverse fetal and maternal outcomes. We describe the case of a large placental chorangioma leading to polyhydramnios as well as consecutive preterm birth and high output cardiac failure of the newborn. Derived from a literat...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章,评审

    doi:10.1055/a-0903-3034

    authors: Ziemann M,Apostolidou S,Dum D,Hecher K,Singer D,Tavares de Sousa M

    更新日期:2020-04-01 00:00:00

  • [Sepsis and SIRS (systemic inflammatory response syndrome) in the puerperium--pathogenesis and clinical management].

    abstract:PURPOSE:We report about 5 cases of "puerperal sepsis" to elucidate the clinical significance and resulting therapeutic management of Sepsis, SIRS (Systemic inflammatory response syndrome) and MODS (Multiple organ dysfunction syndrome), whose definitions were introduced at the Consensus Conference of the American Colleg...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:

    authors: Sauer I,Schröder W,Raumanns J,Rath W

    更新日期:1998-01-01 00:00:00

  • [Periodontal diseases--a review on the association between maternal periodontitis and adverse pregnancy outcome].

    abstract::Several prospective clinical trials have indicated an association between maternal periodontal status and adverse pregnancy outcome, e.g., low birth weight, pre-term birth and pre-eclampsia. However, the translation of these findings into clinical care and decision making is still a matter of debate. Gynecologists and...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章,评审

    doi:10.1055/s-0034-1385859

    authors: Manegold-Brauer G,Hoesli I,Brauer HU,Beikler T

    更新日期:2014-12-01 00:00:00

  • Intrapartum ST segment analyses (STAN) using simultaneous invasive and non-invasive fetal electrocardiography: a report of 6 cases.

    abstract::The objective of this study was to analyze ST segment analyses (STAN) using simultaneous traditional - gold standard invasive (fetal scalp electrode) and newly available non-invasive abdominal fetal electrocardiography (fECG) during delivery.This was a prospective observational study of non-invasive fetal ECG using 5 ...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章

    doi:10.1055/s-0034-1375606

    authors: Reinhard J,Hayes-Gill B,Yuan J,Schiermeier S,Louwen F

    更新日期:2014-06-01 00:00:00

  • [Differential HELLP syndrome diagnosis].

    abstract::The early detection of HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets) is the basic condition for immediate therapeutic management, which mainly leads to prompt delivery. The classical symptoms despite the typical laboratory evaluation (hemolysis, elevated liver enzymes, low platelets) are epigas...

    journal_title:Zeitschrift fur Geburtshilfe und Neonatologie

    pub_type: 杂志文章,评审

    doi:

    authors: Faridi A,Rath W

    更新日期:1996-05-01 00:00:00