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Biomedical subjects

L Gortner

Publications and source records attributed to L Gortner.

At least 19 recordsLinked to original sources
PubMed2006

Caudal regression sequence: vascular origin?

Caudal regression sequence (CRS) is a rare congenital defect of the lower spinal segments and the neural tube. Motor symptoms as well as neurological deficits and loss of bladder and bowel function are usually present. CRS is also associated with anomalies in other systems such as the gastrointestinal and genitourinary tract. Etiology and pathogenesis are poorly understood.A newborn presented with anomalies of the spinal column (lumbosacral) with absence/hypoplasia of the 12th thoracic and first lumbar vertebral anomaly body. Bladder and bowel initially were functional. MR-angiography exhibited an anomaly of the unpaired vessels originating from the aorta, a likely relict of a persisting vitelline artery. These findings indicate a potential vascular genesis of CRS, much as in sirenomelia.

Abnormalities, Multiple↗
PubMed2006

Effect of propofol on seizure-like phenomena and electroencephalographic activity in children with epilepsy vs children with learning difficulties.

There is an ongoing debate as to whether propofol exhibits pro- or anticonvulsant effects, and whether it should be used in patients with epilepsy. We prospectively assessed the occurrence of seizure-like phenomena and the effects of intravenous propofol on the electroencephalogram (EEG) in 25 children with epilepsy (mean (SD) age: 101 (49) months) and 25 children with learning difficulties (mean (SD) age: 52 (40) months) undergoing elective sedation for MRI studies of the brain. No child demonstrated seizure-like phenomena of epileptic origin during and after propofol sedation. Immediately after stopping propofol, characteristic EEG changes in the epilepsy group consisted of increased beta wave activity (23/25 children), and suppression of pre-existing theta rhythms (11/16 children). In addition, 16 of 18 children with epilepsy and documented EEG seizure activity demonstrated suppression of spike-wave patterns after propofol sedation. In all 25 children with learning difficulties an increase in beta wave activity was seen. Suppression of theta rhythms occurred in 11 of 12 children at the end of the MRI study. In no child of either group was a primary occurrence or an increase in spike-wave patterns seen following propofol administration. The occurrence of beta wave activity (children with learning difficulties and epilepsy group) and suppression of spike-wave patterns (epilepsy group) were transient, and disappeared after 4 h. This study demonstrates characteristic, time-dependent EEG patterns induced by propofol in children with epilepsy and learning difficulties. Our data support the concept of propofol being a sedative-hypnotic agent with anticonvulsant properties as shown by depression of spike-wave patterns in children with epilepsy and by the absence of seizure-like phenomena of epileptic origin.

Adolescent↗
PubMed2005

Hypoxia-induced intrauterine growth retardation: effects on pulmonary development and surfactant protein transcription.

BACKGROUND AND OBJECTIVES: Preterm infants with intrauterine growth retardation (IUGR) reveal an increased risk for the development of acute and chronic pulmonary disorders, i.e. bronchopulmonary dysplasia (BPD). In order to investigate the effect of IUGR on pulmonary development, an easily reproducible animal model for fetal growth restriction has been established using hypoxia as a sole intervention in the last third of pregnancy. METHODS: Date-mated mice were randomly assigned to either being kept at a fraction of inspired oxygen (FiO2) of 0.10 (hypoxic group) starting at day 14 or under normoxic conditions until day 17.5 of gestation (control group). Variables of somatic growth were assessed and standardized histomorphometric analyses of pulmonary tissue were performed. Expression of surfactant proteins (SP)-A, -B, -C and -D was determined by quantitative rt-PCR as biochemical indicators for lung development and maturation. RESULTS: Fetuses were delivered preterm at 0.87 of gestation. Those grown under hypoxic conditions revealed significantly lower birth weights (median: 0.69 vs. 0.97 g in controls; p < 0.001), body lengths (median: 17.5 vs. 20.2 mm in controls; p < 0.001) and fronto-occipital diameters (median: 9.4 vs. 10.1 mm in controls; p < 0.001) compared to controls. Histomorphometric analyses were found to be without significant differences between both groups. On the transcriptional level, however, mRNA expression of SP-A, -B and -C but not SP-D could be shown to be significantly reduced in hypoxic fetuses compared to normoxic controls. CONCLUSIONS: In conclusion, hypoxic conditions from day 14 to 17.5 led to IUGR in preterm mice and to significant alterations of the developing surfactant system. We speculate restricted development of SP gene expression to be a causal factor for the increased risk of acute and chronic pulmonary disorders in preterm infants with IUGR.

Animals↗
PubMed2005

Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.

UNLABELLED: N-acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder. Most of the patients present in the early neonatal period with severe hyperammonaemia and marked neurological impairment. We report on a Turkish family with an index patient, who died due to hyperammonemia, and another three siblings, who received a prophylactic treatment consisting of arginine hydrochloride, sodium benzoate and phenylbutyrate directly after birth. Enzyme measurement in a liver biopsy suggested a diagnosis of partial NAGS deficiency in all three siblings. Thereafter, N-carbamylglutamate was added to the treatment. None of the patients developed hyperammonaemia. After the human NAGS gene was identified, mutation analysis revealed that the consanguineous parents and two siblings were heterozygous for a private mutation (W484R), whereas the wild-type gene was found in the eldest sibling. Therapy was stopped without any deterioration of urea cycle function. CONCLUSION: Diagnosis of partial NAGS deficiency based on enzyme measurement may be misleading and should be completed by mutation analysis.

Acetyltransferases↗
PubMed2005

Is transient tachypnoea of the newborn associated with polymorphisms in the epithelial sodium channel encoding gene? Investigation of the second transmembrane spanning domain of the alpha subunit.

AIM: We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn. We thus searched for polymorphisms in this region in neonates with transient tachypnoea of the newborn. We also investigated samples from preterm neonates with respiratory distress syndrome, as dysfunction of the epithelial sodium channel might also increase the risk for developing respiratory distress syndrome and influence its course. METHODS: We used denaturing gradient gel electrophoresis to detect sequence variants in exon 12 and 13 of the epithelial sodium channel. Forty-three neonates with transient tachypnoea of the newborn (gestational age [mean +/- SD]: 38.3 +/- 1.2 completed weeks; birthweight: 3088 +/- 426 g), 57 neonates with RDS (gestational age: 29.6 +/- 3.5 completed weeks; birthweight: 1272 +/- 638 g), and 50 healthy controls were enrolled prospectively. RESULTS: We did not detect any polymorphism. Neither did confirmative sequencing of this region in 16 neonates with transient tachypnoea of the newborn reveal any polymorphism. CONCLUSION: We conclude that reasons other than polymorphisms in the second transmembrane spanning domain cause transient tachypnoea of the newborn.

Amino Acid Sequence↗
PubMed2004

[Surfactant-associated proteins B and C: molecular biology and physiologic properties].

Treatment of neonatal RDS in premature infants with intratracheal administration of natural surfactant has become gold standard therapy. Natural surfactant preparations mainly contain, apart from phospholipids, the surfactant associated proteins B and C (SP-B and SP-C). Both proteins are synthesized mainly in alveolar type-II cells and Clara-cells, SP-B, also in the gastrointestinal tract and the auditive tube. SP-B is encoded on chromosome 2 over a region with 11 exons, whereas the SP-C gene is localized on chromosome 8 in a region containing 6 exons. Transcription of both SP-B and SP-C is induced by TTF-1. Furthermore SP-1 and SP-3 are known as transcription factors for SP-B. The main function of SP-B and SP-C is to maintain physiologic surface properties enabeling adequate lung mechanics. A complete SP-B deficiency following homozygous mutations in the SP-B gene (e. g. 121-ins 2-mutation) therefore leads to severe respiratory failure postnatally, due to the lack of functional surfactant. On the other hand complete deficiency of SP-C causes chronic interstitial pneumonitis as well in infants as in adults depending on disease-modifiers yet unknown. Besides the surface tension lowering property, SP-B reveals immunological functions regarding its interaction with different proinflammatory cellular systems as well as other inflammatory mediators, e. g. following hyperoxia. For SP-C first studies have described modulation of inflammatory reactions in macrophages, suggesting similar immune-modulatory effects. Whereas basic effects on lung mechanisms of both lipophilic surfactant proteins seem to be well understood, their immunologic local pulmonary functions and effects on surfactant metabolism require further investigations.

Adult↗
PubMed2003

Plasma arginine and urinary nitrate and nitrite excretion in bronchopulmonary dysplasia.

The aim of this prospective study was to determine whether preterm infants with bronchopulmonary dysplasia (BPD) and signs of increased pulmonary artery pressure have a deficiency of plasma arginine (ARG) and systemic nitric oxide (NO) synthesis. Plasma amino acid concentrations, Doppler pulmonary systolic time intervals (ratio of acceleration time and ejection time corrected for heart rate: AT/ET(C)) and urinary nitrate and nitrite concentrations were determined at the 28th day postnatal age and at 36 weeks postmenstrual age in 73 preterm infants less than 30 weeks gestational age. The AT/ET(C) ratios were significantly lower in infants with BPD (n = 32) compared to controls. However, total amino acid concentrations, ARG intake as well as plasma ARG concentrations were not different between groups (median (interquartile-range) micromol/l): control: 58 (42.5-75.5) and 54.5 (42-71) at day 28 and 36 weeks; BPD: 54.5 (31.5-70.5) and 43 (35-62), respectively. Urinary nitrate and nitrite concentrations, were not different between groups at day 28, but significantly higher in infants with BPD at 36 weeks (p = 0.014). In conclusion, plasma ARG concentrations and systemic NO synthesis were not deficient in preterm infants with BPD and signs of elevated pulmonary artery pressure.

Arginine↗
PubMed2003

Lung volume reduction surgery in bronchopulmonary dysplasia.

UNLABELLED: We report on a female preterm infant of 29 wk gestational age, who developed acquired lobar emphysema after prolonged artificial ventilation secondary to respiratory disease syndrome and bronchopulmonary dysplasia. The infant underwent atypical segmentectomy at the age of 12 mo because of life-threatening hypoxaemia with pulmonary hypertension and failure of conservative treatment. CONCLUSION: Lung volume reduction surgery (LVRS) dramatically improved the respiratory function and resulted in adequate weight gain and psychomotor development. In selected cases LVRS can be an option for lobar emphysema in premature infants with severe bronchopulmonary dysplasia.

Bronchopulmonary Dysplasia↗
PubMed2003

Congenital leukaemia after heavy abuse of permethrin during pregnancy.

A single case is described of congenital leukaemia with 11q23/MLL rearrangement in a preterm female newborn. Because of arachnophobia, the mother had heavily abused aerosolised permethrin, a widely used household insecticide. Permethrin is considered comparatively safe, but, in view of the mother's history, its potential to induce cleavage of the MLL gene in cell culture was tested. Incubation of the BV173 cell line with 50 micro M permethrin readily induced MLL cleavage.

Adult↗
PubMed2002

Molecular biological characterization of equine surfactant protein A.

In the following, we describe the isolation and sequencing of the equine surfactant protein A (Sp-A) as found in both the cDNA and the genomic DNA. We found a length of the cDNA sequence of 747 bp (base pairs), in translation into amino acids of 248. Compared with the known molecular biological facts about Sp-A in other species, the cDNA sequence obtained showed highest homology with that of sheep (85.01%). The genomic DNA of equine Sp-A, as in other species, includes three introns. There were no hints for the existence of two different Sp-A genes. These results should form the basis for a better understanding of respiratory failure in foals and adult horses, and also lead to further studies on this item.

Animals↗
PubMed2002

Antenatal prediction of intraventricular hemorrhage in fetal growth restriction: what is the role of Doppler?

OBJECTIVE: To evaluate relationships between neonatal intraventricular hemorrhage and altered brain blood flow in preterm growth-restricted fetuses. METHODS: One hundred and thirteen growth-restricted fetuses (birth weight < 10th centile and umbilical artery pulsatility index > two standard deviations above gestational age mean) which delivered prematurely (< 34.0 weeks) were studied. Three expressions of altered brain blood flow were defined: 'brain sparing'= middle cerebral artery pulsatility index > two standard deviations below the gestational age mean, 'centralization' = ratio of middle cerebral artery/umbilical artery pulsatility indices (cerebroplacental ratio) > two standard deviations below the gestational age mean, and 'redistribution' = absent or reversed umbilical artery end-diastolic velocity. Intraventricular hemorrhage was graded after Papile (I-IV) by cranial ultrasound performed within 7 days of delivery. RESULTS: Sixty-seven (59.3%) fetuses had brain sparing, 84 (74.3%) had centralization and 51 (45.1%) had redistribution. Fifteen (13.3%) neonates had intraventricular hemorrhage and were more likely to have a biophysical profile < 6, earlier delivery for fetal indications, lower cord artery pH, HCO3, hemoglobin, and platelets, a 10-min Apgar score < 7 and high perinatal mortality (5/15; 33.3%). No associations between intraventricular hemorrhage and brain sparing or centralization were identified. However, neonates with intraventricular hemorrhage had significantly higher umbilical artery pulsatility index deviations from the gestational age mean and a relative risk of 4.9-fold for intraventricular hemorrhage with redistribution (95% confidence interval, 1.5-16.3; P < 0.005). Multiple logistic regression revealed significant associations between intraventricular hemorrhage and a low 10-min Apgar score (r = 0.30, P < 0.005) and low hemoglobin (r = 0.28), gestational age at delivery (r = 0.25) and birth-weight centiles (r = 0.23) (P < 0.05). No Doppler parameter was identified as an independent contributor to intraventricular hemorrhage. CONCLUSION: While loss of umbilical artery end-diastolic velocity early in gestation significantly increases the risk for neonatal intraventricular hemorrhage, prematurity and difficult transition to extrauterine life remain the most important determinants of intraventricular hemorrhage.

Apgar Score↗
PubMed2002

Prenatal diagnosis and management of fetuses with liver hemangiomata.

OBJECTIVES: To study the relationship between prenatal appearance and perinatal outcome of fetuses with hepatic hemangiomata with special emphasis on criteria that may help to improve perinatal management. METHODS: In a tertiary referral center six fetuses with hepatic hemangiomata were evaluated by gray-scale, color, and pulsed wave Doppler ultrasound between 1994 and 2000. Fetal blood sampling was performed in four cases. All data (computerized files and video tapes) were analyzed retrospectively. RESULTS: Two fetuses showed very similar sonographic findings. They had an isolated large ('giant') round hepatic hemangioma (diameter 43 and 68 mm, respectively) supplied by one hepatic artery and drained by one hepatic vein, both of them showing high velocity and low pulsatility blood flow. Fetal blood count and coagulation parameters were normal in one case, whereas the other fetus showed a Kasabach-Merritt sequence with severe thrombocytopenia (10 platelets/nL) and mild disseminated intravascular coagulation. Intrauterine platelet transfusion was performed immediately prior to planned Cesarean delivery. Rapid platelet consumption continued postnatally, requiring several thrombocyte transfusions. Platelet counts stabilized only after tumor resection on the second day of life. One fetus with diffuse neonatal hemangiomatosis developed high-output cardiac failure with hydrops in addition to Kasabach-Merritt sequence (15 platelets/nL), and died following premature delivery. Three fetuses, however, showing an isolated small hyperechogenic hepatic hemangioma (5, 5, and 6 mm in diameter, respectively) did not develop any perinatal complications. CONCLUSION: Large fetal liver hemangiomata and diffuse hemangiomatosis may cause severe perinatal complications, particularly high-output cardiac failure and/or Kasabach-Merritt sequence with severe consumption of platelets and clotting factors and hemolytic anemia. Fetal blood sampling enables the prenatal detection of these potential complications, allowing critical modification of perinatal management such as intrauterine platelet transfusion, especially directly before delivery. In contrast, isolated small hyperreflexic hepatic hemangiomata do not appear to be associated with any of these fetal and postnatal sequelae.

Adult↗
PubMed2001

Low prevalence of large intraventricular haemorrhage in very low birthweight infants carrying the factor V Leiden or prothrombin G20210A mutation.

UNLABELLED: The influence of genetic factors that increase coagulation on the extension of intraventricular haemorrhage (IVH) in very low birthweight infants has not been studied previously. This study investigated the frequency and effect of the factor V Leiden and prothrombin G20210A mutations in a population-based cohort of 305 preterm infants with a birthweight below 1500 g. The overall prevalence of IVH was similar in infants with (n = 43) and without (n = 262) prothrombotic mutations (18.6% vs 16.4%, respectively). However, infants with prothrombotic mutations had a significantly reduced risk of developing extension to IVH grade II or more [p = 0.023, odds ratio (OR) 0.11, 95% confidence interval (CI) 0.02-0.5]. The carrier state of a factor V Leiden or prothrombin G20210A mutation was still predictive for a low rate of IVH grade II-IV if possible confounding variables were included in a multivariate regression model (OR 0.12; 95%CI: 0.017-0.86). CONCLUSION: The data suggest that the factor V Leiden and prothrombin G20210A mutations lead to improved control of intraventricular bleeding in very low birthweight infants.

DNA Mutational Analysis↗
PubMed2000

Disinfectant contaminated with Klebsiella oxytoca as a source of sepsis in babies.

We report an outbreak of sepsis from contaminated disinfectant in a neonatal and paediatric intensive-care unit. 28 infants were infected with Klebsiella oxytoca and basic measures to control the outbreak failed. The resistance of K. oxytoca against the disinfectant was probably mediated by capsule formation, visible as mucoid colonies.

Cross Infection↗
PubMed2000

Absent umbilical artery end-diastolic velocity in growth-restricted fetuses: a risk factor for neonatal thrombocytopenia.

OBJECTIVE: To examine the relationship between umbilical artery (UA) end-diastolic flow and neonatal thrombocytopenia. METHODS: We prospectively examined 115 anatomically normal single fetuses with UA pulsatility indices more than two standard deviations above the gestational age mean and subsequent birth weights below the tenth percentile. Peripheral neonatal platelet counts in fetuses with positive UA end-diastolic velocity were compared with those of fetuses with absent or reversed UA end-diastolic velocity. RESULTS: Sixty-seven fetuses (58.3%) had positive UA end-diastolic velocity and 48 (41.7%) had absent or reversed UA end-diastolic velocity. Three neonates in the positive-flow group and 22 neonates in the absent- or reversed-flow group had platelet counts of less than 100, 000/mm(3) (relative risk 10.2; 95% confidence interval; 3.2, 32.3; P <.001). Absent or reversed end-diastolic velocity had a sensitivity of 88%, specificity of 71%, positive predictive value of 46%, and negative predictive value of 96% for predicting neonatal thrombocytopenia. Neonates with absent or reversed flow also had lower median platelet counts (101,500/mm(3) versus 208,000/mm(3), P <.001), hemoglobin levels (15.1 versus 16.4 g/dL, P <.01), and hematocrits (47.6 versus 51.1%, P <.05), as well as higher nucleated red blood cell counts (191 versus 15 per 100 white blood cells, P <. 001). CONCLUSION: Absent or reversed UA end-diastolic velocity in growth-restricted fetuses is associated with a statistically significant increase in risk of neonatal thrombocytopenia.

Adolescent↗
PubMed2000

Coronary artery blood flow visualization signifies hemodynamic deterioration in growth-restricted fetuses.

OBJECTIVE: To determine the relationship between fetal coronary blood flow (CBF) visualization in intrauterine growth restriction (IUGR), longitudinal changes in arterial and venous flow velocity waveforms and perinatal outcome. METHODS: A total of 48 IUGR fetuses (abdominal circumference below the 5th percentile for gestational age) with absent or reversed umbilical artery (UA) end-diastolic velocity (AREDV) were examined longitudinally by echocardiography attempting CBF visualization at each examination. Doppler evaluation of the middle cerebral artery, inferior vena cava (IVC), ductus venosus (DV) and umbilical vein (UV) was performed at each examination. Doppler measurements were correct for gestational age by conversion into Z-scores (delta-indices). Doppler results and outcome from fetuses in which CBF was visualized (group 1, n = 20) and those in which CBF was never visualized (group 2, n = 28) were compared. Outcome parameters analyzed included Apgar scores, cord arterial blood gases, perinatal mortality, respiratory distress, bronchopulmonary dysplasia, intraventricular hemorrhage, necrotizing enterocolitis and postpartum circulatory failure requiring pressor support. RESULTS: There was no difference in Doppler indices between groups at study entry. CBF visualization coincides with a significant increase of UA-, IVC- and DV delta-indices. The greatest rate of change was observed for indices in the ductus venosus which occurred in the 24 h preceding CBF visualization. Group 1 fetuses required earlier delivery (median 27 + 4, vs. median 30 + 0), had lower birthweight (682 +/- 305 g vs. 936 +/- 416 g), lower cord pH (7.21 +/- 0.1 vs. 7.27 +/- 0.06) and cord pO2 (13 +/- 4.5 vs. 24.1 +/- 13.5 mmHg) compared to group 2 (all values P < 0.05). Mortality was similar (group 1 = 6/20, 30%; group 2 = 6/28, 21.4%). CONCLUSIONS: In IUGR, fetuses with AREDV and centralization are at high risk for hypoxemia, acidemia and adverse outcome. CBF visualization coincides with deteriorating venous flows. Operator dependence of CBF visualization and the strong association with abnormal venous flow stresses the importance of venous Doppler surveillance in these fetuses.

Blood Flow Velocity↗