Introduction

HCC is the sixth most common malignancy worldwide and a major cause of death in patients with CLD and cirrhosis. it accounts for 90% of primary liver cancer.
it is important to detect patient with high risk to develop HCC. Liver fibrosis (LF) is a major risk factor regardless of its etiology.
Using of liver biopsy is limited by its invasiveness, poor acceptance, cost, intra and interobserver errors. TE for liver can rapidly measure liver stiffness and also can predict the absence or presence of significant fibrosis as well as advanced cirrhosis.

Aims & Methods

To assess the ability of TE for detection of LF and HCC in patients with CLD. we searched MEDLINE, Cochrane, EMBASE database until 2019, using the following search items: TE, fibroscan, HCC and hepatoma. Each title and abstract was reviewed to make sure it is relevant. The full text was studied if the abstract indicated that the paper reported HCC risk by fibroscan. sensitivity analysis and assessment of publication bias were performed.

Results

Forty-six studies were included, 18 studies evaluated the role of LSM in predicting HCC in CLDs patients, 6 studies evaluated the role of LSM in predicting hepatic decompensation, 1 study reported a composite outcome of HCC and hepatic decompensation, and 4 studies evaluated the role of LSM in predicting mortality.

Conclusion

HCC is associated with increased LS. Each unit increase in LSM was associated with an 11% higher risk of HCC. LSM may be a useful method to identify patients with CLD at risk for HCC.

Clinical Case Summary

Placement of self-expandable metal stents (SEMS) is a standard treatment in the palliation of unresectable malignant biliary obstruction, whereas multidisciplinary oncology treatment prolongs patient survival. Consequently, the likelihood of stent-related complications has increased. Distal migration is a rare cause of stent dysfunction and SEMSs are relatively hard to extract after insertion. We present the management of a patient with dislocated SEMS using argon plasma coagulation (APC).
An 88-year-old man with unresectable ampullary cancer and consequential biliary stricture underwent a transpapillary placement of a 6-cm-long, 10-mm diameter uncovered SEMS (uSEMS).
Twelve months later, he presented to our department with vomiting. Given the high index of suspicion for stent dysfunction, a duodenoscopy was performed. Direct endoscopic visualization showed a distal 3-cm-long migration of the uSEMS. The distal end of uSEMS was firmly impacted in the contralateral duodenal wall resulting in reactive tissue ingrowth narrowing both the stent and the duodenal lumen. Significant malignant duodenal obstruction was detected below the dislocated uSEMS.
Subsequently, it was attempted to trim the distal 2 cm of the stent using an axial APC probe (power setting 80W, gas flow 0,8 L/min). The trimmed stent was removed with biopsy forceps. The procedure lasted 20 min, without immediate complications and the patient was discharged within 2 days.
One month after the procedure, the patient was readmitted with recurrent vomiting. Endoscopy revealed duodenal stricture below the papilla of Vater, due to malignant disease progression. Therefore, an 8-cm-long, 20-mm diameter duodenal SEMS placement was performed under simultaneous endoscopic and fluoroscopic control and symptoms were soon relieved.
This case highlights endoscopic APC stent trimming as an efficient procedure, which allows easy, reproducible and well−tolerated management of migrated uSEMS-related complications.

References

Fig. 1. Dislocated uSEMS and reactive tumor ingrowth
Fig. 2. (a) Trimming of the distal end using APC (b) the remaining stent in situ

1. Yokode, M., Matsumori, T., Uza, N., Kuwada, T., Shiokawa, M., Maruno, T., & Seno, H. (2022). Usefulness of a circumferential argon plasma coagulation probe in trimming a dislocated distal biliary metal stent. Endoscopy, 54, E802–E803. https://doi.org/10.1055/a-1816-7903
2. Azevedo, R., Libânio, D., Bastos, P., Dinis Ribeiro, M., & Brandão, C. (2019). Going through the Mesh: Argon Plasma Trimming of a Metal Biliary Stent. GE Portuguese Journal of Gastroenterology, 26(4), 295–297. https://doi.org/10.1159/000493352
3. Ishii, K., Itoi, T., Sofuni, A., Itokawa, F., Tsuchiya, T., Kurihara, T., Tsuji, S., Ikeuchi, N., Umeda, J., Moriyasu, F., & Tsuchida, A. (2011). Endoscopic removal and trimming of distal self-expandable metallic biliary stents. World Journal of Gastroenterology, 17(21), 2652–2657. https://doi.org/10.3748/WJG.V17.I21.2652
McDonald, N. M., & Amateau, S. K. (2022). Jailbreaking a metal biliary stent through a duodenal stent. VideoGIE, 7(6), 226–228. https://doi.org/10.1016/j.vgie.2022.02.002
4. Vanbiervliet, G., Piche, T., Caroli-Bosc, F. X., Dumas, R., Peten, E. P., Huet, P. M., Tran, A., & Demarquay, J. F. (2005). Endoscopic argon plasma trimming of biliary and gastrointestinal metallic stents. Endoscopy, 37(5), 434–438. https://doi.org/10.1055/S-2005-860989

Introduction

Pediatric Acute Liver Failure (PALF) presents a considerable threat to children with a high risk of mortality, despite its rarity. However, the exact cause remains unknown in about half of the cases, emphasizing the need for continued investigation and advancements in our understanding of the condition. Recurrent Acute Liver Failure (RALF) represents an even more uncommon phenomenon, defying diagnosis despite thorough examination. The advent of Whole Exome Sequencing offers hope in uncovering its elusive genetic origins, potentially shedding light on specific genetic disorders underlying this condition.

Aims & Methods

This study aimed to report spectrum of Recurrent Acute Liver Failure (RALF) cases and role of Whole Exome Sequencing (WES) in establishing a cause for RALF, during January 2023 – January 2024 in a tertiary care institute.

Results

We report 4 cases of Recurrent Acute Liver Failure (RALF). First case was a 5 year old 1^st born female child of 3^rd degree consanguineous marriage who presented with RALF during febrile episodes at 10 months, 18 months and 5 years. Child had low GGT (19 IU/L) cholestasis initially. Etiological workup for Wilson, infective, metabolic was normal. Provisionally, Fever Associated Infantile Liver Failure (ILFS) was thought. But, Upper GI endoscopy revealed esophageal varices confirming portal hypertension, and liver biopsy revealed- acute on chronic hepatitis with cirrhosis, confirming chronic liver disease, which was in contrast to complete liver function resolution seen in ILFS. Change in gait and expressive language ability was lost from 3 years of age. The child had rigidity, increased deep tendon reflexes, tremor and ataxia on examination. Genetic analysis revealed homozygous (autosomal recessive) likely pathogenic variant of SCYL1 gene mutation leading to Spinocerebellar Ataxia 21.
The second child also presented with RALF at 8 months, 1year and 1.5 years during febrile episodes, with low GGT Cholestasis. WES revealed pathogenic variant of SCYL1 gene mutation leading to Spinocerebellar Ataxia 21. Child died at 1.5years of age.
Third child is a 10 year old girl presented with multiple fever-related RALF since 9 years of age and was asymptomatic in between episodes. As the cause was indeterminate after extensive evaluation, WES was done which revealed novel compound heterozygote mutation in RINT1 gene in exon 8 and 12.
The fourth child is a sibling of third case who succumbed with the first acute liver failure following a febrile episode at 12 years of age.

Conclusion

Understanding the genetic basis of PALF is crucial for accurate diagnosis and management. Genetic testing, including targeted gene sequencing or whole-exome sequencing, can help identify these mutations and provide insights into the underlying causes of PALF in affected individuals. This information is essential for personalized treatment approaches and genetic counseling for families. In addition to metabolic and mitochondrial diseases, mutations in genes related to both cytosolic and mitochondrial pathways—such as NBAS, TRMU, IRAS, MARS, RINT1, and SCYL1—have been implicated in pediatric acute liver failure (PALF).

References

1. Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U. Genetic landscape of pediatric acute liver failure of indeterminate origin. Hepatology. 2024 May 1;79(5):1075-87.
2. Çakır M, İssi F, Güven B, Yakici N, Karaguzel G, Selimoglu A. Rare Causes of Recurrent Acute Liver Failure In Children: Infantile Liver Failure Syndromes. Klinische Pädiatrie. 2023 Jul;235(04):245-9.
3. Youssef, Mariam et al. “CALFAN (Low γ-Glutamyl Transpeptidase (GGT) Cholestasis, Acute Liver Failure, and Neurodegeneration) Syndrome: A Case Report with 3-Year Follow-Up after Liver Transplantation in Early Adulthood.” Case reports in hepatology vol. 2023 3010131. 31 Jul. 2023, doi:10.1155/2023/3010131

Introduction

In European Countries, abdominal ultrasound (US) is often considered a first-line diagnostic technique and an extension of clinical examination [1]. The interpretation of US and its accuracy is operator dependent and, in the absence of adequate training and continuous medical education, US probes may be a useless tool [2,3]. To fill this gap, The European Federation of Societies for Ultrasound in Medicine and Biology (EFSUMB) has developed guidelines to identify minimum training requirements for US examinations [4], with 300 exams needed to be a Level 1 sonographer.
In Italy, gastroenterologists have the possibility to learn abdominal US during medical residency or while attending private dedicated training courses. Nonetheless, there is no standardized training among Italian universities and many gastroenterologists acquire US skills only after their residency. This evidence points out the pitfalls of our educational system.

Aims & Methods

The aim of our survey was to identify the overall education and knowledge of abdominal US among young Italian gastroenterologists (<40 years old). For this purpose, we sent a questionnaire to young Italian gastroenterologists and residents in Gastroenterology (GI).
The Ultrasound Committee of the Italian Young Gastroenterologist and Endoscopist Association (Associazione Giovani Gastroenterologi ed Endoscopisti Italiani- AGGEI) distributed via e-mail to all its members (348) a web-based survey and multiple-choice test with images, based on the EFSUMB recommendations about minimum training requirements for a US examination [4].
The answers were collected anonymously and analyzed for distribution and correlations.
Statistical analysis was performed with STATA 13.0 (College Station, TX: StataCorp LP).

Results

The questionnaire was filled out by 110 participants (60 males, 54.5% aged <30) from all over Italy with a response rate of 31.6% Most of the respondents worked in Academic Hospitals and were GI residents or PhD students.
Among the participants, 58.9% learned US during their GI residency by other skilled residents and only 8.2% attended specific US courses. The great majority (90%) of respondents were currently working in a Unit with a US service. During their training participants performed a median number of 320 (IQR 20-1280) upper abdomen and 240 (IQR 20-640) bowel ultrasound examinations. A total of 39 did not perform any bowel US. More than half (55%) completed independently >300 abdominal US (Level 1 EFSUMB sonographer).
Seventy-four point five percent of respondents believe in the value of US education for their future clinical practice. At the univariate logistic regression, being >30 years old and working in a non-academic hospital were factors associated with a positive result in the questionnaire, with a statistically significant association (OR 2.406; 1.142–5.168, p<0.05). Multivariate analysis showed that the respondents who stated to feel confident in performing abdominal US independently had higher points on the test (OR 0.370; 0.161-0.850, p<0.05 at the multivariate logistic regression) (Table 4).

Table 4. Uni and multivariate logistic regression for the evaluation of factors associated with higher scores in the multiple-choice test with images.

Conclusion

Most young Italian gastroenterologists believe US training has an important role for their education. However, their competence suffers from heterogeneous teaching.
GI Schools should provide standardized theoretical and practical (hands-on training and learning by doing) education for this essential examination.

References

1. Abu-Zidan FM, Cevik AA. Diagnostic point-of-care ultrasound (POCUS) for gastrointestinal pathology: state of the art from basics to advanced. World J Emerg Surg. 2018 Oct 15;13:47. doi: 10.1186/s13017-018-0209-y. PMID: 30356808; PMCID: PMC6190544.
2. Heinzow HS, Friederichs H, Lenz P, et al. Teaching ultrasound in a curricular course according to certified EFSUMB standards during undergraduate medical education: a prospective study. BMC Med Educ 2013 Jun 11; 13: 84. doi: 10.1186/1472-6920-13-84. PMID: 23758796; PMCID: PMC3686658
3. Nourkami-Tutdibi N, Tutdibi E, Schmidt S, et al. Long-term knowledge retention after peer-assisted abdominal ultrasound teaching: is PAL a successful model for achieving knowledge retention? Langzeit-Lerneffekte nach Peer-Assisted Ultraschall-Kurs: Ist PAL eine erfolgreiche Methode in der Erhaltung von Langzeit-Lerneffekten? Ultraschall in Med 2020; 41(1): 36–43. doi: 10.1055/a-1034-7749
4. Valentin, L. Minimum training recommendations for the practice of medical ultrasound. 27.