Progressive familial intrahepatic cholestasis 3 Camouflaging as Wilson disease in a 12-year-old: a diagnostic Odyssey.

Primary Familial Intrahepatic Cholestasis type 3 is an exceedingly rare genetic cholestatic disorder characterized by the defective hepatocanaliculr bile acid transport leading to progressive liver disease. In this case report, we describe the course of treatment for a 12-year-old kid diagnosed with Wilson disease based on Leipzig score and copper investigations. The child did not improve with chelation therapy and was subsequently genetically classified as PFIC-3. This case highlighted the caveats in Wilson disease diagnostic scoring system. The diagnostic odyssey, therapeutic interventions, and outcome of this case underscore the intricate interplay between clinical suspicion, investigative strategies, and the pivotal role of genetic testing to elucidate rare liver disorders in children.

Upfront tofacitinib in patients with biological-naïve ulcerative colitis - An Indian multicentric experience.

OBJECTIVES: Tofacitinib is a Janus Kinase inhibitor used for treating moderate to severe ulcerative colitis (UC), mainly after the failure of biological therapy. There is a paucity of data on the outcome of tofacitinib in biological-naïve UC patients. The present study was aimed at analyzing the safety and efficacy of tofacitinib in biological-naïve Indian patients with UC. METHODS: The present study retrospectively evaluated consecutive patients with biological-naïve moderate-to-severe active UC from six tertiary care centers in India receiving tofacitinib from September 2020 to September 2022. Clinical remission or response assessment was based on partial Mayo score (PMS) calculated at baseline and weeks eight, 16 and 24. RESULTS: Total 47 cases (57.4% male, median age: 32 years) were included. After eight weeks of therapy, 33 (70.2%) achieved clinical remission and eight (17.0%) had a primary failure. The baseline serum albumin at treatment initiation was the only independent predictor of remission at eight weeks (Odds ratio: 11.560, 95% CI: 1.478 - 90.404), but not at 16 weeks. By 24 weeks, 59.6% (28/47) of the patients were in remission and 29.8% (14/47) had stopped tofacitinib either due to failure (27.6%) or adverse events (AEs) (2.1%). Among the 47 patients, 10 (21.2%) cases developed AEs during follow-up, including two tuberculosis (4.2%), one cytomegalovirus (CMV) colitis (2.1%) and one herpes zoster (2.1%). Four patients with infection required temporary drug discontinuations. One required permanent discontinuation (mania). CONCLUSION: Upfront tofacitinib is effective in biologic-naïve Indian patients with moderate-severe UC. Further randomized studies are required to validate the study findings.

C-reactive protein/albumin and ferritin as predictive markers for severity and mortality in patients with acute pancreatitis.

Introduction: Acute pancreatitis (AP) is a life-threatening gastrointestinal disease with high mortality and morbidity. However, scoring systems or prognostic indicators for assessing AP are cumbersome and expensive, and have not proved accurately to predict outcomes. Aim: We conducted a study with the aim of evaluating the predictive accuracy of C-reactive protein (CRP)/albumin and ferritin regarding outcomes in patients with AP. Material and methods: A prospective study was conducted in a tertiary care referral centre in Odisha from March 2020 to April 2021. A total of 116 consecutive patients of AP were enrolled in the study. CTSI, APACHE II, ferritin, and the CRP/albumin ratio were calculated. Results: The mean age of patients was 40.63 ±5.49 years with a male predominance (73%). Alcohol was most common aetiology (46.6%), and the overall mortality was 18%. Mean ferritin and the CRP/albumin ratio were also significantly higher in severe AP as compared to moderately severe AP and mild AP (p < 0.001). The CRP/albumin ratio (AOR = 1.26, 95% CI: 1.02-1.56, p = 0.02) was found to be independent predictor of mortality in Cox regression multivariate analysis and had the highest AUC for predicting the severity of acute pancreatitis. Serum ferritin had higher AUC (0.89, 0.83-0.91, p < 0.001) for the development of necrosis in acute pancreatitis, but it failed to be proven as an independent predictor of mortality. Conclusions: CRP/albumin is a simple, cheap, and easily available biomarker predicting the development of severe pancreatitis, and it was found to be an independent predictor of mortality in AP.

Prevalence and predictors of functional evacuation disorder in patients with chronic constipation

Background: Functional evacuation disorder (FED) is the second most common cause of functional constipation (FC) after constipation-predominant irritable bowel syndrome. However, the data on FED is relatively scanty in our region. Hence, the present study was performed to evaluate the demographics of FED and to find out the predictors of FED in patients with chronic constipation. Methods: A total of 134 patients with chronic constipation diagnosed according to the Rome IV criteria who were referred for high-resolution anorectal manometry (HRAM) were retrospectively enrolled in the present study. All FC patients who underwent HRAM were asked to fill a questionnaire and underwent anorectal manometry and were submitted to the balloon expulsion test (BET). Results: The mean age of patients was 43.09 ± 9.32 years old, with a total of 76 (54%) males. The most common symptom was straining during defecation (87%) followed by incomplete evacuation (86%). The prevalence of FED, diagnosed by HRAM and by the BET was 39%. Patients with FED had a significantly higher percentage of straining and sensation of anorectal blockade compared with those without FED (96 versus 82%; p < 0.01; 81 versus 44%; p < 0.001, respectively). On the multivariate regression analysis, straining > 30 minutes (odds ratio [OR] = 3.63; p = 0.03), maximum squeeze pressure (OR = 1.05; p < 0.001), and balloon volume at maximal sensation (OR = 1.06; p < 0.001) were found to be significant independent predictors of FED. Conclusion: Prolonged straining and sensation of anorectal blockade were significant indicators of FED in patients with chronic constipation. (AU)

Wavelet Transform and Deep Convolutional Neural Network-Based Smart Healthcare System for Gastrointestinal Disease Detection.

This work presents a smart healthcare system for the detection of various abnormalities present in the gastrointestinal (GI) region with the help of time-frequency analysis and convolutional neural network. In this regard, the KVASIR V2 dataset comprising of eight classes of GI-tract images such as Normal cecum, Normal pylorus, Normal Z-line, Esophagitis, Polyps, Ulcerative Colitis, Dyed and lifted polyp, and Dyed resection margins are used for training and validation. The initial phase of the work involves an image pre-processing step, followed by the extraction of approximate discrete wavelet transform coefficients. Each class of decomposed images is later given as input to a couple of considered convolutional neural network (CNN) models for training and testing in two different classification levels to recognize its predicted value. Afterward, the classification performance is measured through the following measuring indices: accuracy, precision, recall, specificity, and F1 score. The experimental result shows 97.25% and 93.75% of accuracy in the first level and second level of classification, respectively. Lastly, a comparative performance analysis is carried out with several other previously published works on a similar dataset where the proposed approach performs better than its contemporary methods.

Strongyloides Infection Presenting as Proximal Small Intestinal Obstruction.

Duodenal obstruction is an infrequent but potentially fatal complication of strongyloidiasis infection. Strongyloides stercoralis can clinically manifest in a broad variety of ways and lacks a classic clinical syndrome, which makes the diagnosis of strongyloidiasis difficult. The diagnosis is usually delayed and made by duodenal aspirate, duodenal biopsy, and/or postoperative biopsy specimen of the resection stricture segment. We present a case of partial duodenal obstruction caused by S. stercoralis. A 46-year-old man had presented with repeated bilious vomiting for 12 days. Upper gastrointestinal endoscopy showed ulceronodular mucosa with luminal compromise at the second part of the duodenum. Abdominal computed tomography scan also showed a wall thickening with luminal narrowing of the second and third part of the duodenum. Duodenal mucosal biopsy revealed larval forms of S. stercoralis.

A prospective study on incidence, risk factors, and validation of a risk score for post-infection irritable bowel syndrome in coastal eastern India.

BACKGROUND AND AIM: Post-infection irritable bowel syndrome (PI-IBS) can occur following acute gastroenteritis (AGE). This study was designed to evaluate the incidence and risk factors of PI-IBS following AGE and to validate a PI-IBS risk score. METHODS: This prospective study was performed between September 2014 and October 2016 on AGE patients by documenting their AGE severity and following up after 3 and 6 months to study the development of IBS (ROME III criteria). The risk score was calculated for all the subjects, and its discrimination ability was tested. RESULTS: Out of 136 hospitalized AGE patients, 35 developed PI-IBS after 6 months. The factors associated with PI-IBS were younger age, longer duration of AGE, anxiety, depression, abdominal pain, bloody stool, vomiting, fever, family history of IBS, and positive stool culture (univariate analysis); however, on multivariate analysis, younger age (adjusted odds ratio [AOR] 0.5; p 0.03), prolonged duration of AGE (AOR 8.6; p 0.01), and abdominal cramps (AOR 2.1; p 0.02) were the independent factors influencing its occurrence. PI-IBS occurred even after infection with Vibrio cholerae. The PI-IBS risk score was significantly higher in patients who developed PI-IBS (72.4 ± 14.48 vs. 31.56 ± 20.4, p-value < 0.001); score > 50 had a sensitivity and specificity of 91.4% and 84.2%, respectively. CONCLUSION: One fourth of AGE patients developed PI-IBS after 6 months. Factors influencing its development were younger age, long duration of AGE, and abdominal pain. The PI-IBS risk score had good predictive accuracy in our population.

Biochemical Profile of Nonalcoholic Fatty Liver Disease Patients in Eastern India with Histopathological Correlation.

Aminotransferase assay is often used as a screening test as well as an endpoint for resolution of disease in nonalcoholic fatty liver disease (NAFLD). Aim of the study was to evaluate the relationship of transaminase level with metabolic variables and histology in NAFLD. Single center observational study was conducted in a gastroenterology clinic at Cuttack in coastal Odisha. Subjects were consecutive patients presenting with functional bowel disease and undergoing abdominal sonography. All participants were evaluated for the presence of metabolic syndrome (MS), insulin resistance, liver function test and lipid profile. Various parameters were compared between NAFLD subjects and controls. 53.5 % of NAFLD had normal serum transaminases, whereas 20.8 % of healthy controls had transaminitis. NAFLD patients had significantly higher BMI, fasting plasma glucose, serum transaminases, serum triglycerides, serum insulin and homeostatic model assessment (HOMA) IR than controls. NAFLD patients who had transaminitis had significantly higher incidence of MS and higher mean HOMA IR than those without. There was no significant difference in histopathological features between NAFLD with and without transaminitis. To conclude, over half of NAFLD subjects do not have transaminitis while transaminitis is present in a fifth of healthy people without fatty liver. Hence serum transaminase should not be used as screening test for NAFLD. NAFLD patients with transaminitis had a higher incidence of MS and insulin resistance than those without. However, there was no significant difference in histopathological features between these two groups.

A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report.

BACKGROUND: Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndrome also presents with skin manifestations and early-onset chronic liver disease, which was found in our case. We believe that we report what could be the first case of Alagille syndrome presenting with café au lait spots, as no such published case report could be found in the literature. CASE PRESENTATION: We report an unusual case of childhood cholestatic jaundice with neonatal onset of jaundice. A 10-year-old boy from the Indian subcontinent presented with obstructive jaundice from early infancy. He also had recurrent fractures of his upper limb bones, intermittent bleeding from his nose, productive cough, decreased night vision, hyperpigmented spots over his skin, and progressive enlargement of his abdomen. Histological examination of a liver biopsy specimen revealed a paucity of bile ducts and changes suggestive of chronic liver disease. Our patient was diagnosed with Alagille syndrome and managed conservatively but died 1 year after the final diagnosis. CONCLUSIONS: This particular syndromic form of paucity of bile duct disorder has been rarely reported in the Indian literature so far. Our case is notable because the child had café au lait spots and very early onset of chronic liver disease, which is quite rare in Alagille syndrome. We believe this to be the first case report on Alagille syndrome manifesting with café au lait syndrome and such early onset of chronic liver disease.

Socioeconomic impact of alcohol in patients with alcoholic liver disease in eastern India.

AIM: The aim of this study is to estimate the socioeconomic impact of alcohol use on patients with alcoholic liver disease (ALD) and their families. METHODS: The demographic and socioeconomic data were collected from hospitalized ALD patients and attendants using a self designed non validated questionnaire and analyzed. RESULTS: Study subjects included 100 consecutive ALD patients (all males). Sixty percent were between 30 and 50 years. Most were married (96 %), literate (63 %), either businessmen (37 %) or employed (30 %) and belonged to middle socioeconomic class. Ninety percent started alcohol use before age 30 years and half during teenage. Mean alcohol intake was 190 mL/day (mean duration 23 years); 60 % consumed alcohol daily. Concomitant tobacco abuse was noted in 79 %. Average expenditure on alcohol was Rs 3800/month. Average hospitalizations for ALD related problems was 2.6 times/year with average expenditure of INR 30,000 (~440 US$) during each hospitalization. For treatment expenses, 86 % of patients borrowed money from friends/relatives, 36 % used saving deposits, and 4 % sold personal belongings. Eleven percent lost their job, and 7 % sold immovable property. In 43 % of cases, children were deprived of education. Besides, 52 % had disturbed social and family life, 34 % abused their spouse, 20 % suffered accidents, and 37 % indulged in physical violence. CONCLUSION: Majority of ALD patients and their families had disturbed social and family life and incurred severe financial loss arising of alcohol use.

Acute-on-Chronic Liver Failure (ACLF) in Coastal Eastern India: "A Single-Center Experience".

BACKGROUND AND OBJECTIVES: Acute-On-Chronic liver failure (ACLF) is an emerging entity. The present study was undertaken to analyze the clinical profile and natural course of ACLF patients. PATIENTS AND METHODS: ACLF was defined as per Asia Pacific Association for the Study of Liver consensus criteria 2009. Patients fulfilling these criteria with some deviations were included and prospectively evaluated for clinical profile, etiologies of acute decompensation (AD) and underlying chronic liver disease, and short-term natural course [3 months]. RESULTS: Out of 123 patients with ACLF (mean age: 45.83 ± 12.05 years; male:female 109:14), 45.53% cases had prior history of AD, and 54.47% presented for the first time as ACLF. Etiologies of cirrhosis were alcohol, cryptogenic, and chronic hepatitis B virus infection in 65.04%, 23.57%, and 11.38% cases, respectively. Recent history of alcohol intake (within 4 weeks) [42.27%] followed by bacterial infections [36.58%] were the common etiologic precipitants for AD. Only 87 (70.73%) out of 123 cases could be followed up for a duration of 3 months; 62 (71.26%) cases died by 3 months. Most deaths occurred in the alcoholics compared to nonalcoholics [(43/53) 81.13% vs. (19/34) 55.88%; P = 0.01]. No significant difference in mortality rate was observed between ACLF cases with history of prior AD compared to newly diagnosed ACLF cases [30/40 (75%) vs. 32/47 (68.09%); P = 0.477]. The prognostic markers [MELD, MELD-Na, CTP] were not significantly different between survivors and nonsurvivors. CONCLUSION: ACLF patients in our population had high short-term mortality rates with majority of deaths in alcoholics. Alcohol intake and bacterial infections were mainly responsible for AD in our study.