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Diagnostics (Basel, Switzerland) Oct 2023Embryological development of the pancreas is a complex phenomenon and, therefore, it can have multiple developmental aberrations. Fortunately, the majority of these... (Review)
Review
Embryological development of the pancreas is a complex phenomenon and, therefore, it can have multiple developmental aberrations. Fortunately, the majority of these pancreatic ductal anomalies are asymptomatic with no clinical relevance and are incidentally detected during diagnostic cross-sectional imaging or endoscopic retrograde cholangiopancreatography (ERCP) or autopsy. Occasionally, pancreatic duct anomalies can result in symptoms like abdominal pain or recurrent pancreatitis. Also, an accurate pre-operative diagnosis of ductal anomalies can prevent inadvertent duct injury during surgery. Conventionally, ERCP had been used for an accurate diagnosis of pancreatic duct anomalies. However, because it is invasive and associated with a risk of pancreatitis, it has been replaced with magnetic resonance cholangiopancreatography (MRCP). MRCP has demonstrated high sensitivity and specificity for the diagnosis of ductal anomalies, which can be further improved with the use of secretin-enhanced MRCP. Endoscopic ultrasound (EUS) is a new diagnostic and interventional tool in the armamentarium of endoscopists and has demonstrated promising results in the detection of pancreatic duct variations and anomalies. Along with the visualization of the course and configuration of the pancreatic duct, EUS can also visualize changes in the pancreatic parenchyma, thereby helping with an early diagnosis of any co-existent pancreatic disease. Absence of the stack sign and crossed duct sign are important EUS features to diagnose pancreas divisum. EUS can also help with the diagnosis of other congenital ductal anomalies like annular pancreas, ansa pancreatica, and anomalous pancreaticobiliary union, although the published experience is limited.
PubMed: 37835872
DOI: 10.3390/diagnostics13193129 -
Journal of Korean Medical Science Oct 2023In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and long-term...
BACKGROUND
In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and long-term mortality. We investigated the prevalence of 67 major congenital anomalies in Korea and compared the prevalence with that of the European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT). We also investigated the mortality and age at death, the proportion of preterm births, and the surgical rate for the 67 major congenital anomalies.
METHODS
Korean National Health Insurance claim data were obtained for neonates born in 2013-2014 and admitted within one-year-old. Sixty-seven major congenital anomalies were defined by medical diagnoses classified by International Classification of Diseases-10 codes according to the EUROCAT definition version 2014. Mortality and surgery were defined if any death or surgery claim code was confirmed until 2020. Poisson distribution was used to calculate the 95% confidence interval of the congenital anomaly prevalence.
RESULTS
The total prevalence of the 67 major anomalies was 433.5/10,000 livebirths. When compared with the prevalence of each major anomaly in EUROCAT, the prevalence of spina bifida, atrial septal defect (ASD), congenital megacolon, hip dislocation and/or dysplasia and skeletal dysplasia were more than five times higher in Korea. In contrast, the prevalence of aortic atresia/interrupted aortic arch and gastroschisis was less than one-fifth in Korea. The proportion of preterm births was 15.7%; however, more than 40% of infants with anencephaly, annular pancreas and gastroschisis were preterm infants. Additionally, 29.2% of the major anomalies were admitted to the neonatal intensive care units at birth, and 25.6% received surgical operation. The mortality rate was 1.7%, and 78.2% of the deaths occurred within the first year of life. However, in neonates with tricuspid valve atresia and stenosis, duodenal atresia or stenosis, and diaphragmatic hernia, more than half died within their first month of life. ASD and ventricular septal defect were the most common anomalies, and trisomy 18 and hypoplastic left heart syndrome were the most fatal anomalies. All infants with aortic atresia/interrupted aortic arch and conjoined twins received surgery.
CONCLUSION
The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.
Topics: Infant; Female; Infant, Newborn; Humans; Child; Gastroschisis; Premature Birth; Constriction, Pathologic; Infant, Premature; Republic of Korea; Aortic Diseases; Congenital Abnormalities; Registries; Prevalence
PubMed: 37821084
DOI: 10.3346/jkms.2023.38.e304 -
Radiology Case Reports Nov 2023Complete annular pancreas (AP) is a congenital anomaly, in which the duodenum is either completely or partially encircled by the ring of pancreatic tissue, which...
Complete annular pancreas (AP) is a congenital anomaly, in which the duodenum is either completely or partially encircled by the ring of pancreatic tissue, which eventually becomes continuous with the head of the pancreas. The incidence of AP is estimated to be around 0.02%. Reports from endoscopic retrograde cholangiopancreatography show an incidence of 0.4%. Partial AP (PAP) is a rarer entity, in which a band of pancreatic tissue in continuity with the head of the pancreas, incompletely encircles the duodenum. It may be asymptomatic or may present later in life with complications. We report a case of a 72-years old male with features of intermittent bowel obstruct which was later found to be having PAP on contrast-enhanced computed tomography imaging at the level of renal hilum characterized by "crocodile-jaw appearance." The possibility of PAP should also be considered at the back of mind of the treating physician, if a patient presents with a long-term history of postprandial abdominal discomfort.
PubMed: 37680665
DOI: 10.1016/j.radcr.2023.08.044 -
Molecular Genetics & Genomic Medicine Oct 2023Annular pancreas (AP) is a congenital defect of unknown cause in which the pancreas encircles the duodenum. Theories include abnormal migration and rotation of the...
BACKGROUND
Annular pancreas (AP) is a congenital defect of unknown cause in which the pancreas encircles the duodenum. Theories include abnormal migration and rotation of the ventral bud, persistence of ectopic pancreatic tissue, and inappropriate fusion of the ventral and dorsal buds before rotation. The few reported familial cases suggest a genetic contribution.
METHODS
We conducted exome sequencing in 115 affected infants from the California birth defects registry.
RESULTS
Seven cases had a single heterozygous missense variant in IQGAP1, five of them with CADD scores >20; seven other infants had a single heterozygous missense variant in NRCAM, five of them with CADD scores >20. We also looked at genes previously associated with AP and found two rare heterozygous missense variants, one each in PDX1 and FOXF1.
CONCLUSION
IQGAP1 and NRCAM are crucial in cell polarization and migration. Mutations result in decreased motility which could possibly cause the ventral bud to not migrate normally. To our knowledge, this is the first study reporting a possible association for IQGAP1 and NRCAM with AP. Our findings of rare genetic variants involved in cell migration in 15% of our population raise the possibility that AP may be related to abnormal cell migration.
PubMed: 37635636
DOI: 10.1002/mgg3.2233 -
Journal of Surgical Case Reports Jul 2023The annular pancreas (AP) is an uncommon congenital anomaly, characterised by a circumferential envelope in the second portion of the duodenum. In recent years, some...
The annular pancreas (AP) is an uncommon congenital anomaly, characterised by a circumferential envelope in the second portion of the duodenum. In recent years, some genetic component has been found in the etiology. A newborn full-term male, weighing at 1910 g at birth, had a history of intrauterine growth restriction and diagnosis of tetralogy of Fallot, Down syndrome and congenital hypothyroidism. Duodenal membrane is suspected after persistent postprandial vomiting and abdominal distension; his abdomen was distended, hyperresonant and soft. The gastroduodenal series showed data compatible with a duodenal membrane so exploratory laparotomy was performed, finding the pancreas completely wrapping the second portion of the duodenum, so a diamond-shaped-duodenoduodenostomy anastomosis was performed. The AP should be considered, especially in male neonates with postprandial vomiting, abdominal distension, who show some other congenital anomaly, and in the abdominal X-ray, the sign of the double bubble is observed.
PubMed: 37489161
DOI: 10.1093/jscr/rjad407 -
Endoscopy Dec 2023
Topics: Humans; Pancreas Divisum; Pancreas; Pancreatic Diseases; Cholangiopancreatography, Endoscopic Retrograde; Pancreatic Ducts
PubMed: 36958350
DOI: 10.1055/a-2032-3462