AI Article Synopsis
- Genetic factors are important in neonatal hyperbilirubinemia (NH) linked to genetic disorders, with the study focusing on identifying mutation characteristics.
- A retrospective study involved 105 newborns with NH due to genetic conditions, using a 24-gene panel for sequencing and statistical analysis.
- Results highlighted 17 frequently mutated genes, with specific mutations identified in neonatal Gilbert syndrome and Wilson's disease, indicating that certain mutations correlate with higher risks of NH in newborns.
Article Abstract
Background: Genetic factors play an important role in neonatal hyperbilirubinemia (NH) caused by genetic diseases.
Aim: To explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases.
Methods: This was a retrospective cohort study. One hundred and five newborn patients diagnosed with NH caused by genetic diseases were enrolled in this study between September 2020 and June 2023 at the Second Affiliated Hospital of Xiamen Medical College. A 24-gene panel was used for gene sequencing to analyze gene mutations in patients. The data were analyzed Statistical Package for the Social Sciences 20.0 software.
Results: Seventeen frequently mutated genes were found in the 105 patients. () variants were identified among the 68 cases of neonatal Gilbert syndrome. In patients with sodium taurocholate cotransporting polypeptide deficiency, the primary mutation identified was (). () mutations primarily occur in patients with hepatolenticular degeneration (Wilson's disease). In addition, we found that and mutations were more common in the high-risk group than in the low-risk group, whereas mutations in , , and were more common in the low-risk group.
Conclusion: Genetic mutations are associated with NH and significantly increase the risk of disease in affected newborns.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11572622 | PMC |
| http://dx.doi.org/10.5409/wjcp.v13.i4.98462 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genetic and audiological determinants of hearing loss in high-risk neonates.
Braz J Otorhinolaryngol
January 2025
Shanghai Jiao Tong University, School of Medicine, Hainan Branch of Shanghai Children's Medical Center, Department of Otorhinolaryngology, Sanya, China; Shanghai Jiao Tong University, School of Medicine, Shanghai Children's Medical Center, Department of Otorhinolaryngology, Shanghai, China. Electronic address:
Objective: We aimed to investigate the correlation between prevalent risk factors for high-risk neonates in neonatal intensive care unit and their hearing loss, and to examine the audiological features and genetic profiles associated with different deafness mutations in our tertiary referral center. This research seeks to deepen our understanding of the etiology behind congenital hearing loss.
Methods: We conducted initial hearing screenings, including automated auditory brainstem response, distortion product otoacoustic emission, and acoustic immittance on 443 high-risk neonates within 7 days after birth and 42 days (if necessary) after birth.
Causal Relationships Between Leukocyte Subsets and Adverse Fetal Outcomes: A Mendelian Randomization Study.
Mediators Inflamm
January 2025
Department of Bioinformatics, School of Basic Medical Sciences, Chongqing Medical University, Chongqing 400016, China.
The tolerance and dynamic regulation of the maternal immune system during pregnancy are pivotal for ensuring fetal health. Immune cell subsets play a complex and crucial role in this process, closely linked to the neonatal health status. Despite recognizing the significance of dysregulation in the quantity and activity of immune cells in neonatal disease occurrence, their specific roles remain elusive, resulting in a dearth of clinically viable interventions for immune-mediated neonatal diseases.
View Article and Find Full Text PDF[The Value of IgG Anti-A/Anti-B Antibody Titers after Absorption of IgG Anti-AB Antibodies in Predicting ABO Fetal Neonatal Hemolytic Disease].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Department of Blood Transfusion， The Fifth Medical Center of PLA General Hospital, Beijing 100071, China.
Objective: To analyze the diagnostic value of IgG anti-A/anti-B antibody titer in the serum of type O pregnant women after absorption of IgG anti-AB antibody for ABO hemolytic disease of fetus and newborn (ABO-HDFN).
Methods: From February 2020 to September 2020, 235 samples of neonatal hemolytic disease whose mother's blood type O from Beijing Blood Center were selected. The titer of IgG anti-A/anti-B antibody in mother's serum before and after absorption of IgG anti -AB antibody was detected by microcolumn gel card, and the incidence of ABO-HDFN was statistically analyzed.
Association of Vitamin D Deficiency with Late Onset Neonatal Sepsis in Term and Late Preterm Neonates.
Mymensingh Med J
January 2025
Dr Md Arif Rabbany, Junior Consultant, Department of Neonatology, Mymensingh Medical College Hospital (MMCH), Mymensingh, Bangladesh; E-mail:
Sepsis is a leading cause of neonatal morbidity and mortality worldwide, especially in low- and middle- income countries (LMIC). It is estimated to cause almost 1 million deaths that accounts for more than 25.0% of neonatal deaths worldwide.
View Article and Find Full Text PDFTime to recovery and its predictors among neonates undergone phototherapy at Comprehensive Specialized hospitals of the Northwest Ethiopia.
Sci Rep
December 2024
Department of Neonatal Health Nursing, School of Nursing, College of Medicine and Health Sciences, and Specialized Hospital, University of Gondar, Gondar, Ethiopia.
Phototherapy is the preferred treatment for neonatal hyperbilirubinemia and has largely replaced exchange transfusions due to its effectiveness and safety. The primary aim of this study was to evaluate the time to recovery and its predictors among neonates undergoing phototherapy at the Neonatal Intensive Care Unit of the Northwest Comprehensive Specialized Hospital in Northwest Ethiopia. A multi-center institution-based retrospective follow-up study was conducted among 423 neonates admitted to the neonatal intensive care unit between September 2019 and December 2023, at Comprehensive Specialized Hospitals of Northwest Ethiopia.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!