Zeitschrift fur Geburtshilfe und Neonatologie最新文献

Mitochondrial respiratory chain dysfunction and impaired oxidative phosphorylation are rare but significant causes of mitochondrial diseases in children, presenting with diverse clinical features. Combined oxidative phosphorylation deficiency type 23 (COXPD23), an autosomal recessive disorder due to GTPBP3 gene mutations, typically manifests as lactic acidosis, hypertrophic cardiomyopathy, and encephalopathy. This case report describes a male infant born at 35 weeks gestation, who exhibited severe lactic aciduria and hypotonia but no cardiomyopathy, which is atypical for COXPD23. Genetic analysis revealed a novel homozygous missense variant in the GTPBP3 gene. Despite intensive metabolic and supportive treatments, the patient's condition worsened, leading to death on the 23rd day. This case emphasizes the need to consider mitochondrial cytopathies in neonates with persistent metabolic acidosis and hyperlactatemia and highlights the importance of early genetic screening for accurate diagnosis and management.

Aim: Although infantile hypertrophic pyloric stenosis is a multifactorial disease caused by genetic and environmental factors, the role of genetic factors has become more important recently. With this study, we aimed to present rare diseases accompanying infantile hypertrophic pyloric stenosis caused by genetic factors.

Patients and methods: This is a retrospective study. Babies who were operated on with the diagnosis of infantile hypertrophic pyloric stenosis in the neonatal intensive care unit between 2000 and 2022 and had additional diseases were included in the study.

Results: 9.8% of patients diagnosed with infantile hypertrophic pyloric stenosis had an accompanying rare disease.

Conclusion: Early diagnosis and treatment of rare diseases associated with infantile hypertrophic pyloric stenosis are of great importance in reducing morbidity/mortality due to these diseases.

Digitalization of human milk banking was examined in a survey among participants of the largest German-speaking symposium for human milk banks. Of the 100 participants, 47% were nurses, 23% were physicians, and 3% were midwives. The overwhelming majority (96%) desired more digitalization in their milk bank. The best-digitized processes were clinical results from donors, milk labeling, and milk orders. At the same time, a discrepancy between the maximum conceivable potential and the current implementation of digital transformation became evident. The survey revealed most participants use in-house digital solutions. Potential main advantages of digitalization were cited as efficiency gains, while implementation efforts and security concerns, particularly power outages and cyberattacks, were seen as disadvantages. Financial restraints, personnel shortage, resistance from local IT departments, and legal concerns were perceived as the biggest barriers. Despite these challenges and a critical examination of the disadvantages, the participants expressed strong optimism and a desire for further digitalization in the human milk bank sector.

Introduction: This study investigates the relationship between volume, structural characteristics and quality of outcome, specifically for infants at the border of viability.

Methods: Using administrative data of the largest provider of statutory healthcare insurance in Germany between 2010-2015, infants with an admission weight (AW) between 250-1249 g treated initially in perinatal centers were included. For infants at the border of viability (250-499 g AW), the endpoints mortality and mortality or morbidity were analyzed. For comparison, infants with 500-749 g and 750-1249 g AW were analyzed. The impact of categorized volume (in quartiles) and structural characteristics (university hospital and in-house pediatric surgery) were examined in separate regressions. Odds ratios (ORs) and potentially avoidable deaths or severe morbidity were calculated.

Results: Infants with 250-499 g AW were significantly more likely to survive if initially treated in perinatal centers with an estimated volume of 62 cases (250-1249 g AW) per year (OR: 0.43; 95%-CI: 0.20-0.96) or in university perinatal centers with in-house pediatric surgery (OR: 0.48; 95%-CI: 0.24-0.93). There was also a positive impact of volume and structural characteristics for infants with 500-749 g and 750-1249 g AW.

Conclusion: In addition to volume, structural characteristics also have a positive impact on the quality of outcomes. Additional requirements of structural characteristics for perinatal centers as well as a higher minimum volume may have a relevant positive impact on the outcome.

Mycoplasma ssp can colonize various human tissues and can cause infections. Their lack of a cell wall makes them difficult to cultivate and to treat as they are resistant to beta-lactam antibiotics. Mycoplasma hominis and ureaplasma urealyticum can colonize the genital tract. While colonization in healthy adults is usually asymptomatic, they can cause neonatal infections during pregnancy through transmission to the fetus or during birth and lead to increased morbidity and mortality, especially in premature infants. However, in full-term neonates with high colonization rates, the pathogenic role and its treatment is controversial. In the following, we present a case of neonatal pneumonia caused by M. hominis in a full-term neonate, which was successfully treated with clindamycin. Mycoplasma spp. can cause symptomatic infections in neonates in individual cases and should be considered as potential pathogens, especially in the case of a protracted course.

Aim: Cardiac rhabdomyoma, known as the most common benign cardiac tumor in childhood, is strongly associated with tuberous sclerosis complex. This study aims to present our single-center experience regarding clinical observations, diagnostic approaches, and treatment modalities for cardiac rhabdomyoma identified during the neonatal period.

Patients and methods: In this clinical observational study, we retrospectively assessed the outcomes of 12 newborn patients diagnosed with cardiac rhabdomyoma who were followed up in our neonatal intensive care unit over the past 12 years.

Results: The mean gestational age of the patients was 38.2±1.6 weeks, with an average birth weight of 3193±314 grams. The mean postnatal age at initial diagnosis was 12.42±15.75 days. Tuberous sclerosis complex was clinically identified in 50% of cases (six patients). Seven infants received everolimus treatment, while three infants underwent clinical monitoring without specific interventions. A significant reduction in cardiac mass size was observed in all surviving patients, leading to their subsequent discharge from the hospital.

Conclusion: Cardiac rhabdomyomas often undergo spontaneous regression in early childhood. However, in cases with obstructive lesions or arrhythmias, they may present life-threatening consequences. Timely diagnosis, appropriate clinical management, and monitoring are crucial in optimizing outcomes for neonates with cardiac rhabdomyoma.

Objective: This study aims to compare the perinatal outcomes of pregnant women with heart disease and a healthy pregnant control group, as well as the maternal and newborn outcomes of pregnant women with congenital heart disease and acquired heart disease.

Material method: Pregnant women with heart disease and healthy control pregnant women were included in this retrospective study. Sociodemographic data of all patients included in the study were obtained from electronic records. Perinatal outcomes of all patients were compared.

Results: A total of 258 pregnant women were included in the study. While 129 pregnant women were diagnosed with heart disease, 129 patients were low-risk pregnant women. Preeclampsia (p=0.004) and cesarean section (p=0.01) rates were higher in pregnant women with heart disease compared to healthy pregnant women. Compared with healthy pregnant women, pregnant women with heart disease had a lower birth weight (p=0.003), a higher fetal growth restriction (FGR) rate (p=0.036), lower birth percentiles (p=0.002), a lower 5-minute APGAR (p=0.0001), a higher neonatal intensive care unit (NICU) admission rate (p=0.001), and a longer NICU stay rate (p=0.001). The mean gestational age at birth of pregnant women with congenital heart disease was higher than that of those with acquired heart disease (p=0.017).

Conclusion: It was observed that all maternal heart diseases were associated with adverse perinatal outcomes compared to healthy pregnant women. In this series, perinatal adverse outcomes of pregnant women with congenital and acquired heart disease did not differ.

Introduction: Miscarriage is the most common complication of pregnancy. In this work, the experiences associated with miscarriage and their relevance for the women are analysed on different levels.

Method: In May 2023, 14 guided interviews were conducted with women. The text material obtained will be brought to a higher level of abstraction using Mayring's content analysis approach and then interpreted.

Results: The results of the study underpin the significance of a miscarriage as a dramatic experience and the assumption of a broad taboo experienced as stressful. The deliberately chosen exchange among like-minded people, the concealment of the pregnancy and subsequently the miscarriage for reasons of shame, self-protection from professional disadvantages, and the assumption of overburdening the partner do not weigh as heavily as those mechanisms that operate in the health sector: at this level, mistrust, trivialisation and organisational and spatial inadequacies contribute to tabooing. The stressful circumstance of miscarriage is cushioned by people who recognise the grief and offer support.

Conclusions: Based on the results of the study, improvements can be derived primarily in the area of care: Recognition of miscarriage, needs-based support services, improvement of communicative elements and organisational and spatial framework conditions.