Association between vitamin D receptor gene variants and neonatal sepsis: A systematic review and meta-analysis.

The objective of this systematic review and meta-analysis was elucidating the association of VDR SNPs (FokI, TaqI, BsmI, BgII, and ApaI) with neonatal sepsis. Literature search was performed to retrieve records published until August 2nd, 2023 (PROSPERO registration: CRD42023451355). Meta-analysis was carried out to determine the pooled estimates for Odds Ratio (OR). A total of four studies were included with 500 neonates (250 sepsis cases and 250 healthy controls). There was an association observed between TaqI SNP with neonatal sepsis for CT vs. CC+TT (OR=1.95) and TT vs CT+CC (OR=0.40). Moreover, the pooled estimates also suggested that CC vs. CT+TT (OR= 0.37) and C vs. T (OR=0.66) of FokI SNP were significantly associated with neonatal sepsis. SNP of BgII was found to be significantly associated with neonatal sepsis, but only reported in a single study.

Genetic polymorphisms associated with sepsis incidence, severity, and outcomes among neonates: A mini-review.

Genetic variation remains a topic of great interest due to its potential as a risk factor for various diseases. Interactions between genes contribute to diverse phenotypes in response to factors such as infection. The impact of genetic background on susceptibility and clinical outcomes, particularly in neonatal sepsis, has gained recognition. The variability in sepsis susceptibility and outcomes can be attributed to the genetic diversity in coding regions and regulatory elements of genes related to innate immune response. Recent advances in genomics and technology have shed light on genetic polymorphisms among humans, often represented by single-nucleotide polymorphisms (SNPs). These SNPs encode proteins crucial for recognizing and responding to pathogenic bacteria, including Toll-like receptor 4, CD14, tumor necrosis factor-alpha, as well as interleukin-1-10. This literature review specifically discusses the involvement of genetic polymorphism during the pathogenesis stage of sepsis, with an emphasis on previous research findings in neonatal sepsis cases, aiming to discuss the implications of polymorphism in sepsis susceptibility and outcomes.

A choledochal cyst type IVa in a child treated with Roux-en-Y hepaticojejunostomy.

A choledochal cyst is a bile duct anomaly that disrupts the transportation of bile from the liver to the gallbladder and small intestine. Choledochal cysts are rare, occurring in approximately one out of every 100,000 to 150,000 children in Western countries, with a girls-to-boys ratio of 4:1. Immediate surgery to excise the cyst and construct a biliary-enteric continuity is necessary to treat this condition. This case-report aimed to present a child with choledochal cyst type IVa who underwent a Roux-en-Y hepaticojejunostomy. A 3-year-11-month-old girl with an abdominal mass experienced jaundice, nausea, and vomiting over the past two years, which worsened in the last month. Abdominal ultrasonography indicated intrahepatic biliary dilatation. Abdominal computed tomography scan results confirmed a choledochal cyst type IVa, characterized by fusiform cyst dilatation at the bilateral intrahepatic bile duct, common hepatic duct, cystic duct, and common bile duct. The cyst exerted pressure on the pancreas and small intestine. Before the surgery, the patient was treated with ceftriaxone 100 mg/kg/day and gentamicin 5 mg/kg/day. Roux-en-Y hepaticojejunostomy was performed, involving the complete excision of the extrahepatic bile duct to reconstruct the biliary system. During the surgery, a retroperitoneal cyst measuring 20 cm x 10 cm with a volume of 200 ml was discovered. Following the surgery, the patient showed clinical improvement. Patient follow-ups indicated that no complications such as wound infection, acute pancreatitis, and the formation of pancreatic or biliary fistula occurred. This case highlights that Roux-en-Y hepaticojejunostomy proves to be an effective surgical approach for managing choledochal cyst type IVa in children, helping to prevent further complications.