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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Related Experiment Video

Updated: Nov 8, 2025

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
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Abernethy Malformation Type 1b.

Evelien Claesen1, Steven Van den Berge1, Enrique Havinga1

  • 1UZ Leuven, BE.

Journal of the Belgian Society of Radiology
|April 19, 2021
PubMed
Summary

Extrahepatic portosystemic shunt is a rare congenital anomaly. Early radiological diagnosis and treatment are crucial to prevent serious complications in affected individuals.

Area of Science:

  • Medical imaging
  • Pediatric surgery
  • Congenital abnormalities

Background:

  • Extrahepatic portosystemic shunt (EHPSS) is a rare congenital vascular anomaly.
  • EHPSS is often associated with other congenital anomalies, increasing diagnostic and management complexity.
  • Understanding the embryological basis of EHPSS is key to recognizing associated defects.

Observation:

  • Radiological imaging plays a pivotal role in diagnosing EHPSS.
  • Characteristic imaging findings include abnormal venous connections between the portal venous system and systemic circulation outside the liver.
  • Associated anomalies may involve cardiovascular, gastrointestinal, or genitourinary systems.

Findings:

  • Prompt and accurate radiological diagnosis of EHPSS is essential.
Keywords:
Congenital extra-hepatic portosystemic shuntabdominal CTabdominal ultrasoundabernethy malformationpediatrics

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  • Timely intervention can mitigate potential complications such as hepatic encephalopathy, portal hypertension, and growth retardation.
  • Multidisciplinary management is often required for complex cases.

    • Implications:

    • Early detection and treatment of EHPSS can significantly improve patient outcomes.
    • Increased awareness among clinicians regarding associated anomalies can lead to more comprehensive patient care.
    • Further research into the genetic and environmental factors contributing to EHPSS may elucidate novel therapeutic targets.