Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome.

Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by various degrees of abnormalities in the liver, heart, eyes, vertebrae, kidneys, face, vasculature, skeleton, and pancreas. This case report describes a newborn child exhibiting a congenital neural tube defect and peculiar craniofacial appearance characterized by a prominent forehead, deep-set eyes, bulbous nasal tip, and subtle upper lip. Just a few hours after birth, congenital heart disease was suspected for cyanosis and confirmed by heart evaluation. In particular, echocardiography indicated pulmonary atresia with ventricular septal defect with severe hypoplasia of the pulmonary branches (1.5 mm), large patent ductus arteriosus and several major aortopulmonary collateral arteries. Due to the association of peculiar craniofacial appearance and congenital heart disease, a form of Alagille syndrome was suspected. In addition, on the fifth day after birth, the patient developed jaundice, had acholic stools, and high levels of conjugated bilirubin and gamma-glutamyltransferase (GGT) were detected in the blood. Genetic testing revealed the novel variant c.802del in a single copy of the JAG1 gene. No variants in the NOTCH2 gene were detected. To the best of our knowledge, this is the first clinical description of a congenital neural tube defect in a molecularly confirmed Alagille patient. This work demonstrates a novel pathogenic heterozygous JAG1 mutation is associated with an atypical form of Alagille syndrome, suggesting an increased risk for neural tube defects compared to other Alagille patients.

Efficacy of Polyhexamethylene Biguanide in Reducing Post-Operative Infections: A Systematic Review and Meta-Analysis.

Background: Post-operative infections are a substantial cause of morbidity and mortality worldwide. Polyhexamethylene biguanide (PHMB) is an antimicrobial agent that has been used in various surgical settings to prevent infections. However, the literature on its efficacy in reducing post-operative infections remains unclear. Materials and Methods: We conducted a systematic review and meta-analysis of randomized controlled trials (RCTs) to evaluate the efficacy of PHMB in reducing post-operative infections. The risk of bias and methodologic quality of the included studies were also assessed. Results: The systematic review included nine RCTs, and eight were included in the meta-analysis that showed that the use of PHMB was associated with a reduction in the rate of post-operative infections. The overall effect size was statistically significant, with moderate heterogeneity across the included studies (log Peto's odds ratio [OR], -0.890; 95% confidence interval [CI], -1.411 to -0.369; I2 = 41.89%). However, the diversity in the application of PHMB and the potential influence of other factors, such as adherence to infection prevention protocols and organizational-level variables, underscore the need for further primary studies. Conclusions: Polyhexamethylene biguanide appears to be a promising intervention for reducing post-operative infections. However, more high-quality, well-designed RCTs are needed to confirm these findings and to explore the most effective ways to use PHMB within specific infection prevention bundles. Future research should also aim to control for potential confounding factors to provide a more comprehensive understanding of the efficacy of PHMB in reducing post-operative infections.