OBJECTIVE: To explore the serological and molecular genetic characteristics of a family with subtype B(A)06. METHODS: A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036). RESULTS: The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family. CONCLUSION The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans ; ABO Blood-Group System/genetics* ; Female ; Pedigree ; Male ; Infant, Newborn ; Asian People/genetics* ; Genotype ; China ; Blood Grouping and Crossmatching ; Hyperbilirubinemia, Neonatal/blood* ; East Asian People

BACKGROUND

Enteric duplication cyst is a rare congenital anomaly of the digestive tract, affecting 0.2% of children and 5- 6% of adults, occurring in 1 in 4,500 births. Intussusception is uncommon in adults, accounting for less than 5% of cases, and is found in 1% of bowel obstruction patients. Clinical symptoms in adults can differ from the typical pediatric presentation.

CASE

A 40-year-old female was hospitalized with epigastric pain and vomiting, which began 12 hours prior to admission. She experienced crampy pain, escalating to severe pain radiating to the right upper quadrant, along with 12 episodes of non-bilious vomiting. She had a previous history of acute cholecystitis and no known comorbidities. Upon admission, her blood pressure was elevated, and she had icteric sclerae and a tender right upper quadrant with a mass in the epigastrium. Laboratory findings showed leukocytosis, hypokalemia, hypoalbuminemia, and hyperbilirubinemia. A computed tomography of the whole abdomen with contrast revealed duodenojejunal intussusception with biliary obstruction, along with a duodenal duplication cyst measuring 4.2 x 5.8 cm, acting as the lead point, with invagination of part of the pancreatic head into the intussusception. She was managed with decompression, medications, and intravenous antibiotics. After three days, she underwent exploratory laparotomy, pancreatoduodenectomy, segmental resection of the jejunum, and anastomosis procedures. Histopathology confirmed the duodenal duplication cyst, showing intestinal-type mucosa lining exhibiting ischemic necrosis with no atypia or malignant tumor cells. The patient tolerated the procedure well, and her symptoms resolved. She was discharged on the 14th hospital day in stable condition.

CONCLUSION

Adult duodenojejunal intussusception is a rare disease that is difficult to diagnose due to its nonspecific symptoms and is possible in cases of duplication cysts which can act as a lead point, such as in our patient. Therefore, a high index of suspicion and imaging plays an important role in the diagnosis of a duplication cyst with intussusception in adults especially those presenting with abdominal pain, vomiting, and jaundice. A correct and timely diagnosis is needed to prevent various complications including bowel infarction and sepsis.

Human ; Female ; Adult: 25-44 Yrs Old ; Abdominal Pain ; Cysts ; Female ; Intussusception ; Jaundice ; Jaundice, Obstructive ; Pain ; Research Report

BACKGROUND AND OBJECTIVE

Choledochal cysts (CC) are rare congenital, cystic dilations of the biliary tree occurring predominantly in Asian populations and in females. Patients are usually children presenting with any of the following: abdominal pain, palpable abdominal mass, and jaundice. Its congenital nature hints at a potential genetic cause. A possible causal gene is TP53, a tumor suppressor with a germline variant called rs201753350 (c.91G>A) that changed from a G allele to an A allele, decreasing the cell proliferation suppressing activity of its functional protein. Currently, there is no information on the TP53 rs201753350 germline variant available for the Filipino population. This study determined the prevalence of rs201753350 and the association between the functional G allele, the rs201753350 germline variant A allele, and the occurrence of CCs in Filipino pediatric patients in a tertiary government hospital.

METHODS

Genomic DNA was extracted from blood samples of pediatric patients clinically diagnosed with CC. Controls were DNA samples collected from a previous study. The samples underwent PCR, electrophoresis, and sequencing.

RESULTS

A total of 109 participants (22 cases and 87 controls) were included in the study. The A allele (22.94%) occurs at a lower frequency than the G allele (77.06%) among both cases and controls. More individuals have a homozygous G/G genotype (54.13%) than a heterozygous A/G genotype (45.87%) while the homozygous A/A genotype was not observed. The estimated risk of choledochal cyst occurrence is significantly lower in individuals with the A allele (PR: 0.08, 95% CI: 0.01 – 0.55) and the A/G genotype (PR: 0.06, 95% CI: 0.01 – 0.40).

CONCLUSION

There is no significant evidence to suggest an association between the TP53 rs201753350 germline variant and the occurrence of choledochal cysts in Filipinos. It is recommended that other mutations within and beyond the TP53 gene be investigated for possible associations with choledochal cyst occurrence.

Human ; Female ; Jaundice ; Choledochal Cyst

OBJECTIVES: To investigate the readmission rate and risk factors for readmission due to hyperbilirubinemia in neonates with ABO hemolytic disease of the newborn (ABO-HDN), and to construct a risk prediction model for readmission. METHODS: Neonates diagnosed with hyperbilirubinemia due to ABO-HDN and hospitalized in the neonatal department between January 2021 and December 2023 were enrolled. Based on readmission status, neonates were divided into a readmission group and a control group. Clinical characteristics related to hyperbilirubinemia and risk factors for readmission were analyzed. Subsequently, a prediction model for readmission was constructed, and its predictive performance was evaluated. RESULTS: A total of 483 neonates with hyperbilirubinemia due to ABO-HDN were included. The readmission rate was 13.0% (63 cases). Multivariate logistic regression analysis revealed that earlier age at phototherapy initiation, longer duration of phototherapy, occurrence of rebound hyperbilirubinemia, and higher levels of serum total bilirubin and indirect bilirubin at discharge were independent risk factors for hyperbilirubinemia readmission in ABO-HDN neonates (OR=2.373, 4.840, 6.475, 5.033, 1.336 respectively; P<0.05). A risk prediction model for ABO-HDN hyperbilirubinemia readmission was constructed based on these 5 risk factors. Model evaluation demonstrated good predictive performance. CONCLUSIONS Age at phototherapy initiation, duration of phototherapy, occurrence of rebound hyperbilirubinemia, and serum total bilirubin and indirect bilirubin levels at discharge are significant influencing factors for readmission due to hyperbilirubinemia in neonates with ABO-HDN. Close monitoring during discharge planning and follow-up management for such neonates is crucial to reduce readmission rates.
Humans ; Infant, Newborn ; ABO Blood-Group System ; Risk Factors ; Patient Readmission ; Male ; Female ; Logistic Models ; Hyperbilirubinemia, Neonatal/therapy* ; Erythroblastosis, Fetal ; Bilirubin/blood*

OBJECTIVES: To evaluate the clinical utility and translational potential of a remote jaundice monitoring system for home-based screening of neonatal hyperbilirubinemia. METHODS: A prospective self-controlled study was conducted, enrolling 538 newborns with gestational age ≥35 weeks, birth weight ≥2 000 g, and postnatal age ≤14 days at the Women's Hospital of Nanjing Medical University from March to October 2023. Four screening protocols with different predictive indicators were developed based on the Chinese Neonatal Transcutaneous Hourly Bilirubin Nomogram. The effectiveness of the system was evaluated, and the feasibility of using the remote jaundice monitoring system in actual home settings was analyzed. RESULTS: A total of 538 paired transcutaneous bilirubin (TcB) and total serum bilirubin (TSB) measurements showed a strong correlation (r=0.85, P<0.001), with 95.0% (511/538) of samples within the 95% limits of agreement. Using TcB ≥ the 95th percentile as the predictive indicator, the system achieved 100% sensitivity, 46.2% specificity, and an area under the receiver operating characteristic curve of 0.731 (95%CI: 0.682-0.780). This approach could reduce unnecessary hospital visits by 41.4% (221/538). CONCLUSIONS The system integrates the QBH-801 transcutaneous bilirubinometer, intelligent early warning, and remote guidance services, establishing a closed-loop "hospital-to-home" management model. It demonstrates high safety and feasibility, with significant clinical translational value.
Humans ; Infant, Newborn ; Female ; Male ; Bilirubin/blood* ; Feasibility Studies ; Prospective Studies ; Hyperbilirubinemia, Neonatal/diagnosis* ; Neonatal Screening/methods* ; Jaundice, Neonatal/diagnosis*

Laparoscopic management of a giant choledochal cyst (CC) in an infant is a technically demanding surgical endeavor that requires specialized training and meticulous planning. Laparoscopic CC surgery presents unique challenges due to the limited operative space, delicate anatomy, and technical demands of the procedure, being both excisional and reconstructive. These challenges are magnified when presented with an infant with a giant CC. In this report, we are going to present the challenges encountered and share the various steps that allowed our team to overcome these challenges.

Our patient is an 11-month-old female, 8.6 kg female who presented to our institution with a RUQ mass, jaundice, and a CT scan showing a large type 1 saccular choledochal cyst. After careful review, our team attempted and successfully performed a laparoscopic cholecystectomy with en bloc excision of the CC and hepaticoduodenostomy reconstruction.

The main challenge is the limited operative space. Once addressed, we felt confident we could complete the procedure laparoscopically. Operative time was 270 minutes. Feeding was resumed at postoperative day 5. Patient was discharged on postoperative day 7. There were no reported intraoperative and postoperative complications. The child remained well with no issues on postoperative reviews. Laparoscopic excision of a giant choledochal cyst in an infant is feasible, effective and safe with good outcomes. Preoperative planning, creative port placement, use of multichannel port, gauze, bipolar shears and needle cyst decompression are key in the successful performance of this elusive and challenging operation.

Human ; Female ; Infant: 1-23 Months ; Choledochal Cyst ; Cholecystectomy, Laparoscopic ; Decompression ; Postoperative Complications ; Jaundice

Background and Objective. Choledochal cysts (CC) are rare congenital, cystic dilations of the biliary tree occurring predominantly in Asian populations and in females. Patients are usually children presenting with any of the following: abdominal pain, palpable abdominal mass, and jaundice. Its congenital nature hints at a potential genetic cause. A possible causal gene is TP53, a tumor suppressor with a germline variant called rs201753350 (c.91G>A) that changed from a G allele to an A allele, decreasing the cell proliferation suppressing activity of its functional protein. Currently, there is no information on the TP53 rs201753350 germline variant available for the Filipino population. This study determined the prevalence of rs201753350 and the association between the functional G allele, the rs201753350 germline variant A allele, and the occurrence of CCs in Filipino pediatric patients in a tertiary government hospital. Methods. Genomic DNA was extracted from blood samples of pediatric patients clinically diagnosed with CC. Controls were DNA samples collected from a previous study. The samples underwent PCR, electrophoresis, and sequencing. Results. A total of 109 participants (22 cases and 87 controls) were included in the study. The A allele (22.94%) occurs at a lower frequency than the G allele (77.06%) among both cases and controls. More individuals have a homozygous G/G genotype (54.13%) than a heterozygous A/G genotype (45.87%) while the homozygous A/A genotype was not observed. The estimated risk of choledochal cyst occurrence is significantly lower in individuals with the A allele (PR: 0.08, 95% CI: 0.01 – 0.55) and the A/G genotype (PR: 0.06, 95% CI: 0.01 – 0.40). Conclusion. There is no significant evidence to suggest an association between the TP53 rs201753350 germline variant and the occurrence of choledochal cysts in Filipinos. It is recommended that other mutations within and beyond the TP53 gene be investigated for possible associations with choledochal cyst occurrence.
Jaundice

The American Academy of Pediatrics updated the guidelines for the management of hyperbilirubinemia in the newborn infants with a gestational age of ≥35 weeks in September 2022. Based on the evidence over the past 18 years, the guidelines are updated from the aspects of the prevention, risk assessment, intervention, and follow-up of hyperbilirubinemia in the newborn infants with a gestational age of ≥35 weeks. This article gives an interpretation of the key points in the guidelines, so as to safely reduce the risk of bilirubin encephalopathy and unnecessary intervention.
Infant, Newborn ; Humans ; Infant ; United States ; Child ; Hyperbilirubinemia, Neonatal/therapy* ; Bilirubin ; Hyperbilirubinemia/therapy* ; Kernicterus/prevention & control* ; Risk Assessment ; Gestational Age

Hepatocelluar carcinoma presenting as a biliary duct tumor thrombus is a relatively rare entity, with poor prognosis. The primary clinical manifestation of this disease is obstructive jaundice, which can often be misdiagnosed. A 59-year-old female patient was admitted with sudden onset of abdominal pain. Laboratory tests suggested obstructive jaundice, and enhanced magnetic resonance imaging of the upper abdomen did not show obvious biliary dilatation. Endoscopic ultrasound and endoscopic retrograde cholangiopancreatography suggested an occupying lesion in the upper bile duct. SpyGlass and biopsy finally confirmed hepatocellular carcinoma with right hepatic duct tumor thrombus hemorrhage. The SpyGlass Direct Visualization System, as an advanced biliary cholangioscopy device, showed the advantages of single-person operation as well as easy access to and visualization of the lesion.
Female ; Humans ; Middle Aged ; Carcinoma, Hepatocellular/diagnostic imaging* ; Jaundice, Obstructive/etiology* ; Liver Neoplasms/diagnostic imaging* ; Hepatic Duct, Common/pathology* ; Thrombosis/complications* ; Hemorrhage/complications*

Hereditary bilirubin metabolic disorder is an important cause for jaundice. For its diverse types and similar clinical manifestations, it has been difficult to make a clear etiological diagnosis. The application of next generation sequencing in recent years has delineated the more and more genetic etiologies for jaundice. This article has reviewed the clinical manifestations and genetic etiology of bilirubin metabolic disorder jaundice, with an aim to enhance the understanding of such diseases and facilitate their clinical diagnosis and treatment, which will provide a reference for genetic counseling and/or prenatal diagnosis for the affected individuals and families.
Female ; Pregnancy ; Humans ; Metabolic Diseases/genetics* ; Jaundice/genetics* ; Bilirubin ; Genetic Counseling ; Phenotype