Zeitschrift fur Geburtshilfe und Neonatologie最新文献

{"title":"The rare reason for massive lactic aciduria and mitochondrial disorders: combined oxidative phosphorylation deficiency type 23 (COXPD23).","authors":"Halil Tuna Akar, Hasan Akduman, Abdülkerim Kolkıran, Elifcan Taşadelen, Nur Aycan","doi":"10.1055/a-2465-3661","DOIUrl":"10.1055/a-2465-3661","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":23854,"journal":{"name":"Zeitschrift fur Geburtshilfe und Neonatologie","volume":" ","pages":"60-62"},"PeriodicalIF":0.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142693148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Diseases and Syndromes Observed in Newborn Babies with Idiopathic Hypertrophic Pyloric Stenosis.","authors":"Başak Kaya, Hasan Akduman, Dilek Dilli, Cem Geyik, Ayşe Karaman, Berna Uçan, Özkan Kaya, Seda Aydoğan, Ayşegül Zenciroğlu","doi":"10.1055/a-2410-5830","DOIUrl":"10.1055/a-2410-5830","url":null,"abstract":"<p><strong>Aim: </strong>  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.</p><p><strong>Patients and methods: </strong>  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.</p><p><strong>Results: </strong>  9.8% of patients diagnosed with infantile hypertrophic pyloric stenosis had an accompanying rare disease.</p><p><strong>Conclusion: </strong>  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.</p>","PeriodicalId":23854,"journal":{"name":"Zeitschrift fur Geburtshilfe und Neonatologie","volume":" ","pages":"53-59"},"PeriodicalIF":0.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Survey on the State, Potential, and Obstacles of the Digital Transformation in Human Milk Banks].","authors":"Rudolf Georg Ascherl, Monika Berns, Christoph Fusch, Judith Karger-Seider, Daniel Klotz, Barbara Naust, Ulrike Sturm-Hentschel, Corinna Gebauer","doi":"10.1055/a-2405-0336","DOIUrl":"10.1055/a-2405-0336","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":23854,"journal":{"name":"Zeitschrift fur Geburtshilfe und Neonatologie","volume":" ","pages":"38-43"},"PeriodicalIF":0.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142406962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Relationship between volume and structural characteristics and the quality of outcomes of perinatal centers for infants at the border of viability].","authors":"Teresa Thomas, Günther Heller, Udo Rolle, Ulrich Thome","doi":"10.1055/a-2405-1233","DOIUrl":"10.1055/a-2405-1233","url":null,"abstract":"<p><strong>Introduction: </strong>This study investigates the relationship between volume, structural characteristics and quality of outcome, specifically for infants at the border of viability.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":23854,"journal":{"name":"Zeitschrift fur Geburtshilfe und Neonatologie","volume":" ","pages":"29-37"},"PeriodicalIF":0.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Pneumonia due to Mycoplasma hominis in a Full-Term Newborn - A Case Report with Literature Review].","authors":"Inga Müller-Graff, Pia Paul, Johannes Forster, Johannes Wirbelauer","doi":"10.1055/a-2371-1802","DOIUrl":"10.1055/a-2371-1802","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":23854,"journal":{"name":"Zeitschrift fur Geburtshilfe und Neonatologie","volume":" ","pages":"63-66"},"PeriodicalIF":0.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141983386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum: Comparison between extraperitoneal and transperitoneal cesarean section: Retrospective case-control study.","authors":"Boris Bačić, Zlatko Hrgović, Anis Cerovac, Ognjen Barčot, Jelena Sabljić, Blagoja Markoski, Mateo Leskur","doi":"10.1055/a-2539-5467","DOIUrl":"https://doi.org/10.1055/a-2539-5467","url":null,"abstract":"","PeriodicalId":23854,"journal":{"name":"Zeitschrift fur Geburtshilfe und Neonatologie","volume":"229 1","pages":"e1"},"PeriodicalIF":0.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Prenatal diagnosis of trisomy 21: Influence of pediatric counseling of pregnant women and contact with families who have an affected child].","authors":"Sandra Kondakov, Florian Faschingbauer, Matthias W Beckmann, Holm Schneider","doi":"10.1055/a-2506-7370","DOIUrl":"https://doi.org/10.1055/a-2506-7370","url":null,"abstract":"<p><p>The widespread use of non-invasive prenatal testing (NIPT) has turned prenatal diagnostics for chromosomal abnormalities from the exception to the rule. A common finding is the suspicion of trisomy 21 in the fetus, which should result in the offer of multidisciplinary counseling. The significance of this for decision-making by the pregnant woman has not yet been investigated.Fully anonymized data on pediatric counseling for 251 pregnant women with unclear NIPT findings, suspected or confirmed fetal trisomy 21 were evaluated retrospectively. All consultations on the subject of trisomy 21 in this cohort were conducted by the same experienced pediatrician, who only ended the consultation when the women seeking advice had no more questions and always offered to put them in direct contact with families that include a child affected by trisomy 21. Contact with such families and the outcome of the pregnancy were recorded in each case. Data were analyzed using methods of descriptive statistics and appropriate statistical tests. In particular, the timing of the pediatric consultation, its duration, and contact with families who have an affected child appeared to be relevant to the pregnant women's decision to continue or terminate the pregnancy.If fetal trisomy 21 is suspected, prompt and detailed pediatric counseling and contact with affected individuals are crucial.</p>","PeriodicalId":23854,"journal":{"name":"Zeitschrift fur Geburtshilfe und Neonatologie","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Whole-exome sequencing identifies novel mutation in intrahepatic cholestasis of pregnancy: A case report and literature review.","authors":"Xixi Deng, Xueqi Li, Yongchi Zhan, Yuxin Ren, Tingting Xu, Xiaodong Wang","doi":"10.1055/a-2468-5250","DOIUrl":"https://doi.org/10.1055/a-2468-5250","url":null,"abstract":"<p><p>Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disease characterized by pruritus and elevated total bile acid (TBA) levels. The most serious impact of ICP is sudden unexplained intrauterine fetal death, especially when an associated TBA ≥ 100 µmol/L is confirmed.We report a case of a 27-year-old female patient with early-onset severe refractory ICP. Whole-exome sequencing and mutation analyses were performed to obtain genetic data on the patient and her mother. Sanger sequencing was performed to screen the mutation site. Computer-based algorithms were applied to predict the pathogenesis of the identified mutation. Subsequently, we conducted a literature review to characterize the pathological features and perinatal management of severe refractory ICP, especially ICP with genetic susceptibility.A heterozygous mutation in the <i>ABCD3</i> gene: c.130C > T/p.Pro44Ser was detected in this patient. Through the analysis of pathogenicity prediction software, the mutations were disease-causing. This is the first report to identify the novel p.Pro44Ser mutations of <i>ABCD3</i> gene in ICP patients.Our report provides new insights into the genetic architecture of ICP involving <i>ABCD3</i> variants. Early-onset severe refractory ICP is rare and mutations in bile acid metabolism genes might accentuate the phenotype. Emphasized perinatal management and screening for potential pathogenicity sites of variants that drive specific recognition of ICP is necessary.</p>","PeriodicalId":23854,"journal":{"name":"Zeitschrift fur Geburtshilfe und Neonatologie","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143011736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful Treatment of Aortic Coarctation in an Extremely Low Birth Weight Infant with Balloon Angioplasty.","authors":"Galip Arici, Özkan Kaya, Akif Kavgacı, Hasan Akduman, Utku Arman Örün","doi":"10.1055/a-2479-4873","DOIUrl":"https://doi.org/10.1055/a-2479-4873","url":null,"abstract":"<p><p>In our case report, we present a case of successful antegrade balloon angioplasty performed via the femoral vein on a 980-gram neonate with severe coarctation of the aorta. Upon reviewing the literature, we found no cases of balloon angioplasty for coarctation performed via the femoral vein in infants with a lower birth weight than in our case. Our aim is to underline that each patient may require individual evaluation and management options.</p>","PeriodicalId":23854,"journal":{"name":"Zeitschrift fur Geburtshilfe und Neonatologie","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of comprehensive nursing combined with ISBAR handover approach in the nursing of patients with placental abruption.","authors":"Qing Yang, Ningning Liu, Wanyang Xie","doi":"10.1055/a-2467-8774","DOIUrl":"https://doi.org/10.1055/a-2467-8774","url":null,"abstract":"<p><strong>Objective: </strong>  The research for this paper was conducted to unveil the effect of comprehensive nursing combined with the Identification-Situation-Background-Assessment-Recommendation (ISBAR) handover approach in the nursing of patients with placental abruption.</p><p><strong>Methods: </strong>  The 40 cases of placental abruption patients admitted to the Women's Hospital School of Medicine Zhejiang University from May 2021 to May 2022 were subjected to conventional basic nursing combined with traditional handover tool intervention, which was recorded as the control group; the 40 cases of placental abruption patients admitted to the Women's Hospital School of Medicine Zhejiang University from June 2022 to June 2023 were subjected to comprehensive nursing combined with ISBAR handover tool intervention, which was recorded as the observation group. Maternal and infant outcomes, the quality of nurse handover, and the psychological burden [State Anxiety Inventory (S-AI), Trait Anxiety Inventory (T-AI), Distress Thermometer (DT), and General Self-Efficacy Scale (GSES)] were observed in the two groups, and the satisfaction with nursing was also assessed by using a self-administered satisfaction scale in the two groups.</p><p><strong>Results: </strong>  The rate of normal delivery of patients in the observation group was higher and the rate of cesarean section and the total incidence of complications were lower than that of the control group. The 1- and 5-min Apgar scores of the newborns in the observation group were higher and the total complication rate was lower than that in the control group. Nurses in the observation group had higher scores for nurses' shift handover quality. S-AI, T-AI, and DT scores were lower in both groups after the intervention and were lowest in the observation group; GSES scores were higher and were highest in the observation group. Satisfaction with nursing was higher in the observation group than in the control group.</p><p><strong>Conclusion: </strong>  Comprehensive nursing combined with the ISBAR handover approach applied to the clinical care of patients with placenta abruption can effectively improve the outcomes of mothers and infants, enhance the quality of nurses' shift handovers, reduce the psychological burden of patients and increase nursing satisfaction.</p>","PeriodicalId":23854,"journal":{"name":"Zeitschrift fur Geburtshilfe und Neonatologie","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}