Biomedical subjects
Publications and source records attributed to L Gortner.
In the differential diagnosis of acute renal failure in Newborns prerenal, renal and postrenal causes must be considered. Additionally, in twin-to-twin transfusion syndrome especially the donor can suffer from acute renal failure caused by longterm intrauterine hypoperfusion of the kidneys resulting in severe retardation of renal development.
The pathogenesis of HHE is likely to be caused by prolonged focal convulsions responsible for a hypoxic cerebral edema. The decreased frequency of the syndrome could be explained by usually immediate drug-induced interruption of the seizure nowadays.
BACKGROUND: Chronic inflammatory processes contribute to the pathogenesis of bronchopulmonary dysplasia (BPD). We hypothesized colonisation with Ureaplasma urealyticum (Uu) as a possible reason for an increased risk of developing prolonged oxygen dependency > 28 days in very low birth weight (VLBW) infants. PATIENTS AND METHODS: From January 1998 to November 1999 pharyngeal swabs were prospectively obtained and tested for Uu at birth and then weekly in VLBW infants. The following variables were compared between Uu-positive and Uu-negative infants: prenatal corticosteroids, maternal infections, mode of delivery, gestational age, birth weight, gender distribution, RDS, surfactant therapy, maximum inspiratory oxygen concentration during the first 24 and 48 hours, duration of oxygen supplementation beyond day 28, PDA, and weight differences during the first week of life. RESULTS: Of a total of 74 infants, 17 were found to be Uu-positive. The latter group showed a lower mean gestational age (29; 25 - 37 vs. 28; 24 - 34 WOG; p = 0.02) and a longer duration of oxygen supplementation after day 28 (0; 0 - 121 vs. 5; 0 - 134 d; p = 0.02). All other variables did not differ significantly between both groups. Multivariate analyses identified the variables birth weight and colonisation with Uu as risk factors for a longer period of oxygen dependency after day 28 (p < 0.01; p = 0.05). CONCLUSION: These data indicate a correlation between the colonisation with Uu and prolonged oxygen dependency > 28 days.
BACKGROUND: The ob gene product leptin is involved in the regulation of body weight and energy expenditure, suggesting a potential role of leptin in embryonal and fetal development and progression of pregnancy. In term infants, leptin concentrations showed a positive correlation with birth weight. We aimed at comparing leptin cord blood levels in AGA (appropriate for gestational age) to SGA (small for gestational age) preterm and term newborns. PATIENTS AND METHODS: Ninety-seven human newborns, 47 females and 50 males, 33 born at term and 64 born before 36 weeks of gestation, were studied prospectively. Leptin concentrations in venous cord blood were determined using a specific RIA (radioimmunoassay). RESULTS: In term newborns, mean gestational age (GA) was 39 weeks (wk) (+/- 0.7 wk) and mean birth weight (BW) was 3316 g (+/- 473 g); in preterm newborns (n = 64), mean GA was 30 wk (+/- 5.0 wk) and mean BW was 1398 g (+/- 505 g). Mean standard deviation score of birth weight (BW SDS) was calculated as - 0.47. Mean leptin concentrations in term newborns differed significantly from those in preterm newborns (9.21 +/- 2.63 ng/ml vs. 1.58 +/- 0.88 ng/ml; p < 0.0001). In preterm and term infants, leptin concentrations showed a linear correlation with BW (r = 0.46; p < 0.0001) and GA (r = 0.48; p < 0.0001), respectively. Leptin levels were best predicted by an exponential regression model with GA (Leptin = exp(- 4.41 + 0.14 x GA); r = 0.61; p < 0.0001). Using multivariate regression analysis (r = 0.57; p < 0.0001), we found significant influences of GA (p < 0.00001) and BW SDS (p < 0.05) on leptin levels. No difference was observed between leptin values in AGA versus SGA preterm infants. CONCLUSION: These data suggest fetal leptin levels to be primarily determined by GA and additionally modulated by growth restriction in term newborns. We found a dramatic increase at weeks 33 to 35 of gestation and no modulation by BW SDS in very preterm infants.
BACKGROUND: Intussusception is the most common cause of abdominal emergency in early childhood. The majority of cases are ileocolic type of intussusception. Only few reports concerning small bowel intussusception have been reported. PATIENTS AND METHOD: We retrospectively reviewed the clinical records and imaging findings of all patients with the diagnosis of intussusception (comparing small bowel intussusception with ileocolic type of intussusception), which were documented by ultrasound in the period April 1997 to January 2001. The routine ultrasound scans included an evaluation of the entire abdomen using sector and linear transducers of high frequency (5 - 7.5 MHz) and power doppler ultrasound. RESULTS: A total of 22 patients with small bowel intussusception (9 female, 13 male) and 29 patients diagnosed to suffer from ileocolic intussusception (10 female, 19 male) were identified and treated. Children with small bowel intussusception were significant older in comparison to children with ileocolic type of intussusception (median age 50 vs. 11 months). In our series the presenting symptoms of patients with small bowel intussusception consisted of abdominal pain (86 %) and vomiting (36 %). The initial clinical symptoms of patients with ileocolic intussusception were abdominal pain (100 %), vomiting (72 %) and/or rectal fresh blood (35 %). Small bowel intussusception was an incidental finding in 3 asymptomatic patients (14 %). Hydrostatic reduction was attempted in 14 % of children with small bowel intussusception (vs. 93 % of children with ileocolic intussusception), one patient needed operative treatment (vs. 21 %). Outcome in all patients was favorable. CONCLUSION: The high percentage of patients with small bowel intussusception observed may relate to increased use of abdominal ultrasound in children presenting with abdominal pain and improvements in resolution and quality of the images. Small bowel intussusceptions in our series were in the majority of cases short-segmented, self-limited and without a lead point. In comparison to patients with ileocolic intussusception the presenting symptoms of small bowel intussusception are less acute.
BACKGROUND: Transient tachypnea of the newborn (TTN) is usually a benign self-limiting respiratory disorder in the immediate neonatal period. The lipophilic surfactant-associated protein B (SP-B) was demonstrated to be the most relevant structural component of the surfactant system for immediate postnatal pulmonary adaptation. We hypothesized genetic variations of surfactant protein B (heterozygous 121 ins 2 mutation er intron 4 polymorphisms) to be related to TTN. PATIENTS AND METHOD: We screened genomic DNA of 83 healthy term neonates (gestational age: 39 (37 - 41) completed weeks [median and range]; birth weight: 3325 +/- 541 grams [mean +/- SD]) and 75 infants presenting with TTN (gestational age: 38 (37 - 41) completed wecks [median and range]; birth weight: 3091 +/- 435 grams [mean +/- SD]) by means of PCR-amplification, fragment length and sequence analysis. TTN was diagnosed an the basis of the clinical signs with respiratory rate > 60 breaths/minute, fraction of inspired oxygen > 0.21, and characteristic radiographic findings within less than 24 hours after birth. Newborns with any infection, pulmonary or cardiac congenital malformations, postnatal asphyxia and infants born to diabetic mothers were excluded. RESULTS: In TTN-group the frequency of male infants (68.4 % versus 44.6 %, p < 0.05) and caeserian section were significantly higher (68.4 % versus 30.1 %, p < 0.05). We did not find any statistical difference in frequency of intron 4 variations between controls and TTN-group (8.4 % versus 10.7 %). None of the infants were heterozygous for the 121ins2 SP-B mutation. CONCLUSIONS: WC conclude polymorphisms of intron 4 and heterozygous 121 ins 2 mutation not to associated with TTN.
Paroxetine, a selective serotonin reuptake inhibitor (SSRI) may be given in severe cases of maternal depression and panic disorders during pregnancy. However, it may lead to severe withdrawal symptoms: respiratory distress, jitteriness, convulsions, hypoglycaemia, an impaired muscle tone and necrotising enterocolitis. These symptoms, also called neonatal withdrawal syndrome, may last up to one month. We report a girl born at 37 weeks of gestation presenting 12 hours after birth with hypopnea, bradycardia and a decreased muscular tone of unknown origin. The child was transferred to the NICU and was intubated and ventilated mechanically. Within the first days the patient also developed cerebral seizures. The EEG showed severe abnormalities. Later we learned that the patient's mother had been treated with Paroxetine during pregnancy. The patient recovered after two days of ventilation and anticonvulsive medication with phenobarbital. The EEG result showed a siginificant improvement. At day 10 she was discharged in good condition. Recognition and treatment of the presented neonatal problems could have been more effective and faster, if the attending pediatricians had been informed earlier about the maternal medication with SSRIs. Neonates of mothers who were treated with SSRIs during pregnancy should be monitored. Paroxetine withdrawal syndrome should be considered as one of the differential diagnosis of neonatal encephalopathy.
BACKGROUND: In Germany the prevalence of insect venom allergy in the population is about 5 %, 10-40 deaths are reported every year. With a success rate of 95 % venom immunotherapy (SIT) has a convincing protective effect. The purpose of this study was to investigate the safety of the original ultra-rush-protocol in children and reduce from 9 to 8 doses by avoiding a second application of 100 micro g insect venom. METHODS: Nineteen children and adolescents with insect venom allergy were treated according to the modified ultra-rush-protocol. The first 5 children were hyposensitized according to the original protocol suggested by Brehler et al., the remaining 14 children (age 6-18 years) received only 8 injections (0.01/0.1/1/10/20/40/80/100 micro g). 5 patients were discharged on the second day four hours after the final application of 100 micro g insect venom. RESULTS: Extensive reddening due to inflammation was found in injection spot in 5 patients. Four patients had an amplified wheal formation. No systemic reactions were observed. The maintenance therapy was well tolerated. CONCLUSION: The modified ultra-rush-protocol increases compliance by short inpatient stay. In addition the modified hyposensitization was sure and well tolerated.
BACKGROUND: Patients with achondroplasia have an increased risk of apnoea due to cervical myelopathy. The indication for operative decompression can not be made by MRI alone, because signal alteration and osseous compression of the cervico-medullary region without functional relevance are frequent in this disease. CASE REPORT: We report on a male new-born with achondroplasia who displayed apnoeas from the first day of life. Two times, mask ventilation had to be performed. After exclusion of other diseases potentially causing apnoeas, an MRI of the skull and cervical spine revealed cervico-medullary compression due to foramen magnum stenosis, but no signal alterations of brain stem and cervical mark. Recording of somato-sensory evoked potentials (SSEP) of the median nerve showed normal potentials at Erb's point. By contrast, cortical potentials were distinctly abnormal during left-sided stimulation and could not be recorded during right-sided stimulation. Based on these findings, operative decompression of the craniocervical region was performed which led immediately to complete remission of clinical symptoms. At follow-up, MRI revealed a normal width of the foramen magnum and SSEP were markedly improved. CONCLUSION: In newborns with Achondroplasia, SSEP can confirm the functional relevance of osseous compression of the cervico-medullary region, and facilitate the decision for operative decompression.
BACKGROUND: The prevalence of childhood obesity is steadily increasing. Weight regulation and food intake are subject to complex regulatory mechanisms. The leptinergic-melanocortinergic system is known to be of major importance. AIM OF THE STUDY: Identification of mutations in the melanocortin 4 receptor gene (MC4R) and of phenotypic effects of detected mutations in German obese children and adolescents. Family specific and cardiovascular risk factors were also analysed. PATIENTS: Consecutive ascertainment of 90 obese children and adolescents with a medium BMI SDS of + 2.6, age range 3 to 16 years. METHODS: Mutation screen within the MC4R was carried out by denaturing high performance liquid chromatography (dHPLC) and re-sequencing of samples with aberrant dHPLC patterns. Eating behaviour and obesity-associated diseases within the families were evaluated by semi-structured interviews. Metabolic evaluation included: oral glucose tolerance test (OGTT, WHO criteria) for calculation of insulin resistance (Homeostasis Model Assessment, HOMA) and insulin sensitivity index (ISI), lipid panel for lipid status, blood pressure measurement and abdominal ultrasound. RESULTS: Three patients were heterozygous MC4R mutation carriers (Thr112Met, Ala175Thr and Gly181Asp). Gly181Asp leads to a complete loss of function; whereas Thr112Met and Ala175Thr lead to a reduced receptor function. The patients with heterozygous MC4R mutations had BMIs, cholesterol levels and waist to hip ratios (W/H) that did not differ from the rest of our study group. The overall occurrence of hypertriglyceridemia (34 %) and hypercholesterinemia (22 %) was correlated with the W/H-ratio. The overall incidence of impaired glucose tolerance was 12 %. In those with a normal glucose tolerance 68 % already had an increased HOMA (mean 3.12; reference value < 1.9) and decreased ISI (mean 4.3; reference value > 7.2). The patients with MC4R mutations had a normal glucose tolerance with similar HOMA and ISI values compared to the rest of the patients. Hypertension was found in 24 % of all cases and blood pressure was correlated with BMI (r+ 0.8). None of the patients with MC4R mutations were hypertensive. Leptin levels did not discriminate between patients with MC4R mutations and the other patients. Five patients harboured one of the MC4R polymorphisms (Val103Ile, Ile251Leu). These were phenotypically indistinguishable from the individuals without MC4R variants. CONCLUSION: We detected MC4R mutations (Thr112Met, Ala175Thr and Gly181Asp) in 3.3 % and MC4R polymorphisms (Val103Ile, Ile251Leu) in 5.5 % of the analysed obese children and adolescents, respectively. The patients with MC4R mutations did not show a higher metabolic risk compared to obese children and adolescents without mutations. However the total study group is prone to an increased risk for developing metabolic and cardiovascular diseases.
During the last years neuromonitoring with various biochemical markers such as S100B protein has been introduced into the clinical settings of neonatal and pediatric intensive care. Several investigations have been undertaken to correlate S100B protein concentrations to the diagnosis and prognosis of neonates and children with severe cerebral disorders. This articles gives a review on the current knowledge, indications and limitations on the use of S100B protein after non-traumatic and traumatic brain injury in neonates and children.
The pathogenesis of neonatal necrotizing enterocolitis is still unknown today. Only prematurity has been confirmed as a primary risk factor. Previous studies demonstrated the special pathophysiological conditions in prematurity. Differences in intestinal permeability, blood flow in anemia and hypoxemia, the uptake, transport, delivery and consumption of oxygen, the digestion of carbohydrates and proteins and in intestinal motility between premature and term infants exist. The diving-reflex too is important for intestinal pathophysiology in these patients. The central key of the pathogenesis is the evident vascular damage. Infectious agents, inflammatory mediators, circulatory insufficiency, feeding excess is followed by the initial mucosal damage. This results in an increased intestinal permeability also for inflammatory mediators, endotoxins, bacteria and gas. Ileus, stasis and gas production cause endotoxinemia and abdominal distension. Increased intraluminal pressure with or without activation of inflammatory mediators leads to an important vascular dysregulation. Consecutively these multiple facts cause the "ischemic looking" hemorrhagic necrosis, we call necrotizing enterocolitis.
Pulmonary surfactant contains lipids and less than 10% proteins. A number of bio-physical properties such as surface-tension lowering and spreading properties are thought to be important for function. Natural surfactants from animal lungs or human amniotic fluid have been used either for prophylaxis or therapy of RDS in very low birthweight infants. Carefully controlled clinical studies demonstrated beneficial effects in infants with RDS after natural surfactants. The main benefits were an improvement in oxygenation, a reduction in bronchopulmonary dysplasia and a reduction in mortality. The results of 5 studies using artificial surfactants clearly are in conflict with respect to short and long term benefits. As no adverse side effects after treatment with natural surfactants were observed until now, these preparations should be considered for prophylaxis or treatment of RDS.
We report a 935 g 27 weeks gestational age male infant born to a 30 year old mother on chronic intermittent hemodialysis for three years prior to the pregnancy. Immediately after birth the infant presented with severe respiratory distress requiring mechanical ventilation. Chest x-ray showed severe hyaline membrane disease with interstitial emphysema. The infant developed a left tension pneumothorax and systemic air embolism of the right heart, the inferior and superior vena cava and the hepatic vein, from which it subsequently died about 12 h later.
The objective of this study was to prove the superiority of doxapram compared to theophylline therapy in apneas of prematurity in very low birth weight infants. Therefore all VLBW infants (gestational age < 35 weeks) were randomized if they had in a 2 hours-interval more than 2 apneas, 4 bradycardias or 4 oxygen desaturations. They received either theophylline (loading dose 5 mg/kg b. w., 3 mg/kg b. w. bid) or doxapram by continuous infusion of 0.5 mg/kg/h. Apneas, bradycardias and desaturations were recorded from the trend analysis of our monitoring system over the first 3-days and a 7 days period and compared statistically (Mann-Whitney U-test). Plasma levels of both drugs and a polysomnographic recording were obtained during steady state conditions in parallel to a behavioral observation according to Prechtl. The recorded events were again compared using the Mann-Whitney U-test. Twenty patients were treated with theophylline, 14 with doxapram. In 9 patients of each group we could perform a polysomnography and behavioral observation. The incidence of apneas, bradycardias and desaturations in a 7 days-interval was not significantly different between both groups. Analyzing the first 3 days of treatment, however, we could detect a significantly lower rate of apneas in the doxapram group (2.5 apneas compared to 7 in the theophylline group, p < 0.037). In the polysomnographic recording and in our behavioral observations we could not record any significant differences between both groups. Therefore we can conclude that theophylline and doxapram are comparable in the treatment of apneas of prematurity, however, doxapram is superior to theophylline in reducing the rate of apneas in the first 3 days of treatment.
UNLABELLED: Necrotizing enterocolitis (NEC) is the most relevant intestinal acquired complication during the neonatal period. Due to the improvements in perinatal medicine during the last decade, we wanted to work out possible differences in the incidence, diagnosis and clinical courses of NEC during a 12 years period. PATIENTS AND METHODS: All premature or term newborns were eligible for the study, if a necrotizing enterocolitis > or = stage 2a according to Bell was diagnosed between January 1980-December 1991. RESULTS: During the study period, 90 preterm or term newborns were treated for necrotizing enterocolitis, 19 infants were admitted to our hospital for therapy of established NEC from other hospitals. Forty-five infants had a birthweight of < or = 1500 g. During the years 1987-1991 there was an increase in the incidence (4-12/year, median 9/year, compared to 0-6, median 3/year during the period 1980-1986). This was paralleled by an increase in very low birthweight infants admitted to the NICU (1980-1986: 35-45/year, 1987-1991: 83-108/year). Prominent clinical signs: abdominal distension (85 infants), increased gastric residuals (72), bright blood from rectum (56). Median time of manifestation in infants < or = 30 weeks was 17 days, for infants of 31-34 weeks 8 days and for infants of > or = 35 weeks of gestation 4 days. Eleven infants were fed parenterally exclusively before NEC, 12 infants received exclusively breast milk, 67 formula. Surgical treatment was indicated in 51 infants (indication: intestinal perforation or peritonitis diagnosed by abdominal paracentesis). Seventy-one infants survived, in 17 infants who died, NEC or secondary disorders were the main cause. CONCLUSION: With increasing numbers of very preterm infants, the relevance of NEC becomes more and more important. Concepts of prevention and early diagnosis further have to be worked out.
The diagnosis of HFI is easily missed during childhood. It should be suspected in children presenting with hepatomegaly and an isolated increase in GGT. A carefully taken nutritional history forms the basis of the diagnosis of HFI which can be confirmed by molecular analysis with a sensitivity of > 95%. I.v. fructose tolerance tests and liver biopsies often can be omitted.
The pathophysiology of bronchopulmonary dysplasia (BPD) as an inflammatory disorder secondary to neonatal respiratory distress syndrome (RDS) is not yet fully understood and still represents a major complication of prematurity. The main pathophysiologic feature of RDS is a primary surfactant deficiency in a structurally immature lung. Pulmonary surfactant contains 90 percent phospholipids and 10 percent proteins (surfactant proteins A, B, C, and D). As surfactant protein A (SP-A) has several major immunological and metabolic intrapulmonary functions, we aimed at investigating an association of polymorphisms of SP-A1 and SP-A2 encoding genes and the risk of BPD. We performed a case-control study exclusively including Caucasian preterm infants below 32 weeks of gestation matched for the degree of immaturity and the year of birth. Venous cord blood was taken prospectively and analyzed by polymerase chain reaction (PCR), single-strand conformation polymorphism (SSCP), cloning and sequencing. BPD was defined as oxygen dependency or need for mechanical ventilation at day 28. Twenty-three infants with BPD were enrolled (mean gestational age 26.2 weeks; mean birth weight 760.4 g) and compared with 23 infants matched on the basis of gestational age (mean gestational age 27.9 weeks; mean birthweight 1015 g). We observed a significantly increased frequency of the SP-A1 polymorphism 6A6 in infants with BPD compared with controls. In addition to previously established risk factors for BPD, 6A6 polymorphism for SP-A1 gene is an independent co-factor. We believe treatment of neonatal RDS should also include stratification according to genetic risk factors.