Clinical Case Summary

Aims: Williams syndrome is characterized by facial dysmorphic features, mental retardation, a unique cognitive profile, hypercalcemia and connective tissue abnormalities. Gastrointestinal manifestations include feeding problems, gastroesophageal reflux, constipation, diverticulosis, chronic abdominal pain, hernias and celiac disease (Figure), while liver cirrhosis has never been reported.
Case report: We report a male patient who was diagnosed with Williams syndrome (FISH method) at the age of 2.5 years old. He developed the characteristic face with broad forehead, underdeveloped chin, short nose and full cheeks in combination with hypercalcemia, supravalvular aortic stenosis and hypothyroidism. During development, the patient showed slow physical growth, mild mental retardation, hypersociality and hearing disorders and at the age of 7 years old the patient demonstrated transaminasemia and hepatosplenomegaly. Abdominal computed tomography showed hepatomegaly with a lobular margin due to cirrhosis, splenomegaly and the presence of ectopic varices with a palpable splenoportal axis, while gastroscopy revealed Grade 1 esophageal varices. Further serology, genetic mutation and metabolic disorders tests were performed without revealing findings suggestive of the etiology of cirrhosis. Eventually, a percutaneous liver biopsy revealed extensive bridging fibrosis and the formation of incomplete regenerative nodules with macrovesicular steatosis, without specific chronic liver disease as the cause of cirrhosis. No other case of Williams syndrome with development of liver cirrhosis has been described in the literature before. Having ruled out the classic causes of cirrhosis the suspected mechanism may be genetic or metabolic in the context of the syndrome.
Conclusion: Williams syndrome is a complex disorder with variable involvement of different organs, so further research is needed to identify the factors responsible for these variations.

References

1. Morris CA, Mervis CB. Williams syndrome and related disorders. Annu Rev Genomics Hum Genet. 2000;1:461-84.
2. Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21;362(3):239-52.
3. Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Williams syndrome. Nat Rev Dis Primers. 2021 Jun 17;7(1):42.
4. Twite MD, Stenquist S, Ing RJ. Williams syndrome. Paediatr Anaesth. 2019 May;29(5):483-490.

Disclosure

Conflict of Interest disclosure
The authors declare that there are not conflicts of interest.

Introduction

It has been reported that diverticulum hemorrhage has a high spontaneous hemostasis rate of 70 to 90% and rarely leads to hemorrhagic shock, so emergency colonoscopy is not widely performed. However, there is a report that the identification rate of stigmata of recent hemorrhage increases with early colonoscopy administration, so we have performed many emergency colonoscopy within 24 hours after the ER visit.

Aims & Methods

We retrospectively examined 68 cases of diverticulum bleeding who visited our hospital from April 2011 to October 2016; 38 cases in the emergency group who underwent colonoscopy within 24 hours and 30 cases in the elective group who underwent colonoscopy after 24 hours.

Results

The age was 73 ± 11 in the emergency group and 72 ± 12 in the elective group. The blood Hb concentration at the first ER visit was 10.0 ± 3.0 g / dL in the emergency group and 10.5 ± 2.4 in the elective group, showing no significant difference. There were no significant differences in blood pressure or pulse rate at the first ER visit. The oral antiplatelet drug use was 39% in the emergency group, which was higher than that in the elective group 23%, but there was no significant difference in the oral anticoagulant and NSAIDS use. The length of hospital stay was 8.0 ± 6.1 days in the emergency group, 8.0 ± 4.6 days in the elective group, and the blood transfusion rate was 53% in the emergency group and 46% in the elective group, showing no significant differences. A significant difference was observed in the rate of identifying bleeding sources. In 26% of the emergency group and 10% of the elective group, stigmata of recent hemorrhage was identified and hemostatic treatment was performed (p<0.05). No major complications such as intestine perforation was observed in the two group.

Conclusion

Emergency colonoscopy for diverticulum bleeding does not reduce blood transfusion during hospital stay, but it identifies bleeding sources and may lead to effective treatment.

Clinical Case Summary

We describe a case of an 80-year-old woman with a history of bronchiectasis, nasal polyps, and chronic sinusitis who presented to the emergency department with diarrhea(>10 bowel movements/day),abdominal pain and estimated weight loss of 6 kg over one month. She was previously treated with antiparasitics without clinical improvement. Laboratory tests showed peripheral eosinophilia(10,400/mm3 eosinophils, 51.4% of total leukocytes). Viral serologies and autoimmune study were negative. Microbiological and parasitological analyses of stool samples were negative too. Immunoglobulin E levels were elevated. Abdominal computed tomography(CT) revealed thickening of the rectal ampulla and sigmoid colon. Upper gastrointestinal endoscopy did not show any abnormalities, but rectosigmoidoscopy revealed colorectal mucosa with millimetric whitish dots, some scattered erosions, and a 20 mm ulcer in the distal rectum that was biopsied. Histological evaluation showed inflammatory changes with predominance of eosinophilic polymorphonuclear cells(>50/field). Bone marrow study showed eosinophilic myeloid hyperplasia without blasts. No cytogenetic abnormalities were identified on chromosomal analysis. During hospitalization, she developed pruritic erythematous macules on the sacral region and inner thighs that gradually improved with topical steroids. Idiopathic hypereosinophilic syndrome with gastrointestinal involvement and possible cutaneous and pulmonar, was assumed. Prednisolone 40 mg/day was started with clinical and laboratory improvement, with complete resolution of peripheral eosinophilia. The diagnosis of idiopathic hypereosinophilic syndrome is a challenge because it is a diagnosis of exclusion and manifests in various ways depending on the affected system, with gastrointestinal involvement being possible, as in the case presented here. Recognition and early initiation of appropriate treatment can improve the survival and quality of life of these patients.

Introduction

A previous study, which found that focal parenchymal atrophy of the pancreas is an indirect sign of small pancreatic cancer (PC), documented the changes in the pancreas until cancer onset.［1-3］ However, the pancreas atrophies and changes with age, so issues remain regarding the criteria for determining pancreatic atrophy as a sign of PC. The application of artificial intelligence (AI) technology to quantify changes in the pancreas over time and predict the onset of PC and high-risk groups for PC from objective indicators has the potential to facilitate early detection of PC.

Aims & Methods

Based on the rate of change in the pancreatic volume on computed tomography (CT) using AI technology, the present study predicted PC onset. Forty patients in whom PC was histopathologically diagnosed at Komagome Hospital between 2015 and 2023 and who had a history of three or more follow-up CT examinations over five years before PC onset (the PC group) were analyzed. Forty patients who underwent CT periodically for malignant skin disease but had no pancreatic disease were enrolled into a non-PC group. Patients with pancreatic carcinoma in situ (pancreatic intraepithelial neoplasm), an intraductal papillary mucinous neoplasm or chronic pancreatitis with multiple calcifications were excluded. Changes in the pancreatic volume in the groups over time were then compared using CT images taken one year or earlier before PC onset. The pancreatic volume was calculated using SYNAPSE VINCENT cloud (Fuji Film, Japan), an AI image application program. Age and pancreas volume were combined to create a scatter diagram, and the rate of pancreatic volume change (the temporal pancreatic volume change coefficient) was calculated from the regression line and compared.

Results

The lesion site in PC group included the head (n=17), body (n=7), and tail (n=16). The median maximum tumor diameter was 31 mm (interquartile range: 27-37). A comparison of the two groups found a cStage classification of IB, IIA, IIB, III, and IV in eight, ten, three, eight, and 11 patients, respectively. The median age was 72.5 and 72.5 years in the respective group (P=0.182). The male: female ratio was 23:17 and 24:16 (P=0.820), the median observation period was 83.5 and 107 months (P<0.05); the mean number of examinations was 10.7 and 18; the total number of CT examinations was 430 and 745; the mean total pancreatic volume was 74.4 and 78.15 ml (P<0.01 ); and the mean pancreatic volume change coefficient was -0.141 and -0.036 (P=0.01), respectively. The rate of decrease in the pancreatic volume was faster in the PC group with increasing age, the average being 8.46 ml over five years in the PC group compared to 2.16 ml in the non-PC group. The cutoff value for the coefficient of pancreatic volume change over time was set at -0.125. The sensitivity was 50%, the specificity was 90%, the positive predictive value was 83%, and the AUC value was 0.67.

Conclusion

In comparison with the age-related changes in the pancreas, the rate of decrease in the pancreatic volume was faster in the PC group, suggesting that PC onset may be predicted using images obtained one year or earlier before PC onset. These findings further suggested that identifying patients with a high risk of PC may be possible by creating a pancreatic volume histogram using AI technology based on age at the time of CT, intervals between past examinations, and the rate of decrease in the pancreatic volume.

References

［１］Nakahodo J, Kikuyama M, Nojiri S, et al. Pancreatology. 2020 Dec;20(8):1689-1697.
［２］Nakahodo J, Kikuyama M, Fukumura Y, et al. Pancreatology. 2022 Dec;22(8):1148-1158
［３］Kikuyama M, Nakahodo J, Honda G, et al. Pancreatology. 2023 Jun;23(4):420-428.

Introduction

The implementation of colorectal cancer screening programmes has been associated with an increase in the incidence of malignant polyps removed endoscopically. In those without endoscopic cure criteria, surgery can be performed to improve oncological outcomes.

Aims & Methods

Evaluate factors associated with the presence of residual malignant disease in the surgical specimen after endoscopic removal of a malignant polyp without endoscopic cure.
Retrospective, cohort study including patients with a malignant polyp endoscopically removed without endoscopic cure, who underwent surgery. The absence of endoscopic cure was defined as positive vertical resection margins (< 1 mm), poorly differentiated grade, depth of submucosal invasion > 1 mm, presence of lymphatic or vascular invasion, or presence of tumour budding. Patients with a synchronous neoplastic lesion and those with a malignant polyp without complete endoscopic removal were excluded.

Results

Included 74 consecutive patients submitted to surgery after the endoscopic removal of a malignant polyp without endoscopic cure. Most patients were male (62.2%), with a mean age of 64 ± 10 years. Regarding the endoscopic mucosal resection (EMR), 45 polyps were removed in one fragment (60.8%) and the other 29 were submitted to piecemeal EMR (39.2%). In 15 cases, snare tip spray coagulation (STSC) was performed at the margins of mucosal defects after EMR, 6 in normal-appearing margins (8.1%) and 9 in margins suspected of residual adenomatous tissue (12.2%). Considering the post-operative outcomes, 7 patients required surgical re-intervention (9.5%), 1 was admitted in the intensive care unit (1.4%), 1 patient died (1.4%), and 2 patients required re-hospitalization in the following 6 months (2.7%).
The presence of residual malignant disease in the surgical specimen occurred in 9 patients (12.2%), 7 had intramural disease (9.5%) and 2 had nodal metastasis (2.7%). Patients with polyps with a flat component were 5 times more likely to have residual disease in the surgical specimen (p=0.043). The polyp size and its location in the right colon were not associated with the presence of residual disease in the surgical specimen (p=0.140 and p=0.654, respectively). Patients with polyps submitted to piecemeal EMR were 7 times more likely to have residual disease in the surgical specimen (p=0.024), with 2 patients with residual disease after EMR in one fragment (4.4%) and 7 patients with residual disease from the piecemeal EMR group (24.1%). Those in which STSC was performed were also more likely to have residual disease in the surgical specimen (p<0.001). No statistically significant differences were found between the presence of positive margins, lymphatic or vascular invasion or well or moderately differentiated histologic grade, and the presence of residual disease in the surgical specimen (p=1.000, p=0.675 and p=0.686, respectively). Tumour budding was described in 3 patients, none of which had residual disease in the surgical specimen.

Conclusion

A minority of patients had residual malignant disease in the surgical specimen, with a higher risk for those with polyps with a flat component or that were submitted to piecemeal EMR. In fact, with piecemeal EMR almost one quarter of patients had residual disease e less than 5% of those with EMR in one fragment had residual disease in the surgical specimen, highlighting the need for a careful evaluation of the polyp before endoscopic removal and the importance of removal in one fragment, in case of suspected submucosal invasion.

Introduction

Upper gastrointestinal bleeding (UGIB) is one of the main potentially life-threatening emergencies encountered in gastroenterology that requires prompt management. For this reason, numerous prognostic scores have been developed to predict the level of risk in patients. However, there are few studies in the literature comparing these scores.

Aims & Methods

The main objective of this study was to compare the performance of the pre-endoscopic scores Glasgow-Blatchford Score (GBS), Rockall Score (pRS), and quick Sequential Organ Failure Assessment (qSOFA) in predicting the severity of UGIB according to predefined criteria.
Methods: This is a retrospective descriptive and analytical study of 102 patients who presented with upper gastrointestinal bleeding at the International University Hospital Cheikh Khalifa over a period of 1 year between October 2021 and October 2022. Scores were calculated for each patient with complete medical records. The data was analyzed using the Jamovi 2.2.5 software. The accuracy of each risk score in predicting clinical criteria was evaluated by the area under the receiver operating characteristic curve (AUROC). A p-value less than 0.05 was considered statistically significant.

Results

The included patients had a mean age of 57.1 years with a slight female predominance (53.9%). GBS was found to be more predictive of the risk of admission to the Intensive care Unit (ICU) and the need for blood transfusion than pRS and qSOFA with an AUROC of 0.914 for these two criteria. GBS was also more predictive of the risk of therapeutic intervention (AUROC 0.882) compared to pRS (AUROC 0.788) and qSOFA (AUROC 0.676). Regarding endoscopic intervention, pRS and GBS were equally able to predict this criterion with moderate power (AUROC pRS 0.721) (AUROC GBS 0.747). qSOFA showed no significant performance, especially in its preferred domain of admission to the ICU (AUROC 0.735) (Table). None of the 3 scores was able to predict the need for surgical intervention.

Table: Comparison of AUC, sensitivity, specificity, PPV and NPV along with cut-off value of Glasgow-Blatchford Score, pre-Rockall, and Quick-Sofa scores to predict the clinical outcomes

Conclusion

At the end of this study, the use of GBS and pRS in daily clinical practice in emergency departments is strongly recommended to predict the need for therapeutic intervention, hospitalization, or re-bleeding episodes. However, it would be interesting to study the usefulness of these prognostic scores, especially qSOFA, through larger prospective studies.

References

1. Cúrdia Gonçalves T, Barbosa M, Xavier S, et al. Optimizing the Risk Assessment in Upper Gastrointestinal Bleeding: Comparison of 5 Scores Predicting 7 Outcomes. GE Port J Gastroenterol. nov 2018;25(6):299‑307.
2. Tham J, Stanley A. Clinical utility of pre-endoscopy risk scores in upper gastrointestinal bleeding. Expert Rev Gastroenterol Hepatol. déc 2019;13(12):1161‑7.
3. Aquarius M, Smeets FGM, Konijn HW, et al. Prospective multicenter validation of the Glasgow Blatchford bleeding score in the management of patients with upper gastrointestinal hemorrhage presenting at an emergency department. Eur J Gastroenterol Hepatol. sept 2015;27(9):1011‑6.
4. Li Y, Lu Q, Song M, Wu K, Ou X. Comparisons of six endoscopy independent scoring systems for the prediction of clinical outcomes for elderly and younger patients with upper gastrointestinal bleeding. BMC Gastroenterol. 13 avr 2022;22(1):187
5. Renukaprasad AK, Narayanaswamy S, R V. A Comparative Analysis of Risk Scoring Systems in Predicting Clinical Outcomes in Upper Gastrointestinal Bleed. Cureus. juill 2022;14(7):e26669
6. Taslidere B, Sonmez E, Özcan AB, Mehmetaj L, Keskin EB, Gulen B. Comparison of the quick SOFA score with Glasgow-Blatchford and Rockall scores in predicting severity in patients with upper gastrointestinal bleeding. Am J Emerg Med. juill 2021;45:29‑36

Disclosure

All co-authors have seen and agree with the contents of the manuscript and there is no conflict of interest.