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Preeclampsia (PE) is a pregnancy-specific syndrome that may be lifethreatening to pregnancies and fetus. Glutathione Peroxidase 4 (GPx4) is a powerful antioxidant enzyme that can provide protection from oxidative stress damage which plays a pivotal role in the pathology of PE. Therefore, this study aims to investigate the association between Gpx4 polymorphisms and the susceptibility to PE in Chinese Han women. TaqMan allelic discrimination real-time PCR was used to perform the genotyping of rs713041 and rs4807542 in 1008 PE patients and 1386 normotensive pregnancies. Obviously statistical difference of genotypic and allelic frequencies were found of rs713041 in GPx4 between PE patients and controls and the C allele has the higher risk for pathogenesis of PE (χ2 = 12.292, P = 0.002 by genotype; χ2 = 11.035, P = 0.001, OR = 1.216, 95% CI 1.084–1.365 by allele). Additionally, when subdividing these samples into CC + CT and TT groups, we found a significant difference between the two groups (χ2 = 11.241, P = 0.001, OR = 1.417, 95% CI 1.155–1.738). Furthermore, the genotype of rs713041 was found to be associated with the mild, severe and early-onset PE. Our results suggest that rs713041 in GPx4 may play a key role in the pathogenesis of PE.

Background: The dysferlin gene or the DYSF gene encodes the Ca 2+-dependent phospholipid-binding protein dysferlin, which belongs to the ferlin family and is associated with muscle membrane regeneration and repair. Variants in the DYSF gene are responsible for limb-girdle muscular dystrophy type 2B (LGMD2B), also called limb-girdle muscular dystrophy recessive 2 (LGMDR2), a rare subtype of muscular dystrophy involving progressive muscle weakness and atrophy. The present study aimed to identify the variants responsible for the clinical symptoms of a Chinese patient with limb girdle muscular dystrophies (LGMDs) and to explore the genotypephenotype associations of LGMD2B. Methods: A series of clinical examinations, including blood tests, magnetic resonance imaging scans for the lower legs, electromyography and muscle biopsy, was performed on the proband diagnosed with muscular dystrophies. Whole exome sequencing was conducted to detect the causative variants, followed by Sanger sequencing to validate these variants. Results: We identified two compound heterozygous variants in the DYSF gene, c.1058 T>C, p.(Leu353Pro) in exon 12 and c.1461C>A/p.Cys487* in exon 16 in this proband, which were inherited from the father and mother, respectively. In silico analysis for these variants revealed deleterious results by PolyPhen-2 (Polymorphism Phenotyping v2; http://genetics.bwh.harvard.edu/pph2), SIFT (Sorting Intolerant From Tolerant; https://sift.bii.a-star.edu.sg), PROVEAN (Protein Variation Effect Analyzer; http://provean.jcvi.org/seq_submit.php) and MutationTaster (http://www. mutationtaster.org). In addition, the two compound heterozygous variants in the proband were absent in 100 control individuals who had an identical ethnic origin and were from the same region, suggesting that these variants may be the pathogenic variants responsible for the LGMD2B phenotypes for this proband. Conclusions: The present study broadens our understanding of the mutational spectrum of the DYSF gene, which provides a deep insight into the pathogenesis of LGMDs and accelerates the development of a prenatal diagnosis.

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Background: Haemolytic disease of the newborn is often secondary to ABO incompatibility, the routine practice of early discharge of newborns leads to a higher occurrence rate for hyperbilirubinemia. We aim to compare the probability of ABO incompatibility and the prevalence of ABO haemolytic disease of the newborn (ABO HDN) and investigate the clinical characteristics of ABO HDN to identify risk factor for ABO HDN. Procedure: The blood type of 85 590 blood donors and the inpatient medical records of 471 ABO HDN were analysed retrospectively. Results: The possibility of a blood group O woman giving birth to a non-group-O infant should be 13.28%; however, only 6.03% of newborns had ABO HDN. 49.46% of total ABO HDN newborns developed disease due to anti-A antibody and 50.54%, due to anti-B. No significant difference was found in group A and B newborns in haemoglobin and peak total serum bilirubin (TSB) levels, but lower haemoglobin values were observed in ABO HDN infants with a positive direct anti-globulin test (DAT). Furthermore, the correlation coefficient between the postnatal age of admission and peak TSB levels was 0.54. When severe hyperbilirubinemia developed, the peak TSB levels increased gradually with the increase in postnatal age of admission. Conclusion: For ABO-incompatible mother-infant pairs, timely monitoring is advised, since early hospitalization and appropriate interventions, if necessary, can reduce the risk of severe hyperbilirubinemia, especially for DAT-positive newborns.