Hepatic Portal Venous Gas (HPVG) after Ingestion of Chlorine Bleach: A Transient Phenomenon.

We present a case involving a 32-year-old man who ingested chlorine bleach with self-defeating intent. The ingestion of bleach can lead to a wide range of consequences, from mild mucosal burns to severe complications, rarely resulting in death. This case highlights the association between chlorine bleach ingestion and the development of hepatic portal venous gas (HPVG), a radiological finding traditionally thought to carry poor prognoses. The HPVG in this case resolved spontaneously within 24 h with conservative management, indicating its transient nature. The exact pathophysiological mechanisms responsible for HPVG after the ingestion of toxic substances .remain only partially understood. One hypothesis suggests that extensive damage to the gastrointestinal wall caused by caustic agent may allow enteric gas to enter the portal system. While HPVG after toxic ingestion is often transient, its consequences and potential risks should be carefully considered. Hyperbaric oxygen therapy is suggested in cases with neurological symptoms. In conclusion, HPVG is not a specific disease but rather a manifestation of various underlying factors, and its development in the context of chlorine bleach ingestion represents an additional insight to its understanding. It can be associated with severe medical conditions, but it is also found in less severe cases that can be managed conservatively.

Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.

Brain arteriovenous malformation (bAVM) is a congenital defect affecting brain microvasculature, characterized by a direct shunt from arterioles to venules. Germline mutations in several genes related to transforming growth factor beta (TGF-ß)/BMP signaling are linked to both sporadic and hereditary phenotypes. However, the low incidence of inherited cases makes the genetic bases of the disease unclear. To increase this knowledge, we performed a whole exome sequencing on five patients, on DNA purified by peripheral blood. Variants were filtered based on frequency and functional class. Those selected were validated by Sanger sequencing. Genes carrying selected variants were prioritized to relate these genes with those already known to be linked to bAVM development. Most of the prioritized genes showed a correlation with the TGF-ßNotch signaling and vessel morphogenesis. However, two novel pathways related to cilia morphogenesis and ion homeostasis were enriched in mutated genes. These results suggest novel insights on sporadic bAVM onset and confirm its genetic heterogeneity. The high frequency of germline variants in genes related to TGF-ß signaling allows us to hypothesize bAVM as a complex trait resulting from the co-existence of low-penetrance loci. Deeper knowledge on bAVM genetics can improve personalized diagnosis and can be helpful with genotype-phenotype correlations.