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Whole-exome sequencing studies have recently identified novel genes implicated in normal- or low-GGT pediatric cholestasis including ubiquitin-specific peptidase 53 (USP53). We identified novel biallelic mutations in the USP53 gene in a 7-month-old infant with pruritus and progressive intrahepatic cholestasis. His liver biopsy showed portal and perivenular fibrosis with bland bilirubinostasis. His parents were asymptomatic heterozygous for the same mutation. He is currently on vitamin supplements and cholestyramine and his family has also been counseled for liver transplantation. Our report confirms that patients with biallelic mutation in USP53 develop cholestatic liver disease. [ABSTRACT FROM AUTHOR]

Background and Aim: To determine the concordance of liver explants with the pretransplant diagnosis. Methods: This was a retrospective analysis of 251 liver explants. Patient information included demography, comorbidity, and etiological diagnosis. Final diagnosis was based on morphological and histological findings. For non‐alcoholic steatohepatitis (NASH) and cryptogenic cirrhosis, we investigated comorbid states such as obesity, hypertension, and diabetes. Chi square test and Cohen's Kappa value were used. A P value of <0.05 was considered significant. Results: A total of 192 patients (76.5%) were males. A significant concordance of explant diagnosis with pretransplant diagnosis was present in 225 (89.6%) patients. It was 100% for alcohol‐related disease, hepatitis B, hepatitis C, autoimmune (AI) liver disease, biliary cirrhosis, and Budd–Chiari syndrome. Of 37 patients with a pretransplant diagnosis of cryptogenic cirrhosis, major discordance was observed in 23 (62.1%). On explant, seven patients each had hemochromatosis 5 (13.5%), AI hepatitis, and NASH (18.9%); two had noncirrhotic fibrosis (5.4%); and one each had Wilson's disease and congenital hepatic fibrosis (2.7%). Of the 20 explants, 3 with pretransplant diagnosis of NASH had a diagnosis of cryptogenic cirrhosis on explant specimens. Cohen's Kappa for the concordance of pretransplant diagnosis and explant diagnosis in NASH and cryptogenic cirrhosis patients was 0.75 and 0.47, respectively. An incidental hepatocellular carcinoma was picked up in 16 explants, and 18 had granulomas. Conclusion: Concordance between pretransplant and explant diagnosis is lower for NASH and cryptogenic cirrhosis. The true prevalence of cryptogenic cirrhosis in our study was 5.6%. [ABSTRACT FROM AUTHOR]

Byline: Prakash. Nair, Arun. Srivastava, Raj. Kumar, Kapil. Jain, Rabi. Sahu, Mukul. Vij, Manoj. Jain Sir, A 20-year old female presented with progressively increasing holocranial headache, unsteadiness of gait, and [...]

Byline: Mukul. Vij, Sushila. Jaiswal, Awadhesh. Jaiswal, Manoj. Jain, Sanjay. Behari Sir, A 48-year-old male presented with gradual diminution of vision of 1 month duration and recurrent episodes of focal [...]

Byline: Sushila. Jaiswal, Mukul. Vij, Arun. Tungria, Awadhesh. Jaiswal, Arun. Srivastava, Sanjay. Behari Primary melanocytic tumors of the central nervous system (CNS) are uncommon lesions. These lesions arise from the [...]

Byline: Awadhesh. Jaiswal, Anant. Mehrotra, Brijesh. Kumar, Sushila. Jaiswal, Mukul. Vij, Sanjay. Behari, Lily. Pal Lipomatous meningiomas are an uncommon subtype of meningiomas. In the present report, the clinical characteristics, [...]

Byline: Mukul. Vij, Sushila. Jaiswal, Awadhesh Kumar. Jaiswal, Sanjay. Behari Central nervous system primary malignant melanoma accounts for approximately 1% of all melanomas. Primary spinal melanomas are even more unusual. [...]

Multidrug-resistant P-glycoprotein 3 (MDR3) is a phospholipid translocator encoded by the ABCB4 gene located on chromosome 7. MDR3 mediates the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte into bile. Severe MDR3 deficiency typically occurs during childhood with progressive cholestasis evolving to cirrhosis and liver failure, requiring liver transplantation. In this article, we report 2 pediatric cases of severe MDR3 deficiency with paucity of interlobular bile ducts. Both underwent living donor liver transplantation at our center for decompensated liver disease and portal hypertension. We diagnosed severe MDR3 deficiency in both the cases with negative MDR3 immunostaining in the explanted liver. Genetic studies revealed homozygous deletion single base pair deletion in exon 24 of the ABCB4 gene in the second child. The patients are on regular follow-up after liver transplant and are doing well. Our report highlights that cholangiopathy in MDR3 deficiency can lead to ductopenia in pediatric livers. [ABSTRACT FROM AUTHOR]

Primary tuberculosis (TB) of the graft presenting as multiple liver abscesses is previously unreported. A 14‐month‐old male child in the early post liver transplant (LT) period presented with high‐grade fever spikes and on evaluation was found to have multiple pyogenic liver abscesses (PLA) in the CT abdomen. His fever was not responding to intravenous antibiotics and liver biopsy was done which showed numerous acid fast bacilli. Genetic analysis confirmed the bacilli as Mycobacterium tuberculosis (MTB). Timely diagnosis and prompt introduction of antituberculosis therapy were lifesaving. [ABSTRACT FROM AUTHOR]

The differentiation of a cluster of nuclei and multi-nucleation is a critical issue in automated diagnosis systems. Due to the similarities between said clusters and malignant nuclei, misclassification of these regions can affect the automated systems' final decision. In this paper, a method for differentiating clusters from multi nucleated cells in histopathological images is proposed. Hepatocellular Carcinoma(HCC) and Dysplasia are characterized by cellular and nuclear enlargement, nuclear pleomorphism and multinucleation, which possess prominent threat Data was obtained from Global Hospital and Research Center from patients diagnosed with Hepatocellular Carcinoma and Dysplasia. This paper introduces a hybrid diagnosis method that uses texture, layout and context features of nuclei and cytoplastic cells in order to enhance the poor diagnosis of liver tumors in Infra Red (IR) images. We propose a Area based Adaptive Expectation Maximization(EM) that grows the clusters, which avoids the need for initial cluster selection in order to obtain texton maps of nuclei and cytoplasm. A linear regression model of nuclei and cytoplastic changes were built by incorporating the aforementioned features efficiently. The proposed method provides better classification and segmentation accuracy of nuclei and extra nuclear content in HCC and dysplasia, compared to the state-of-the-art methods like convolutional networks and classical methods like Adaptive K means and EM method in constant time. In conclusion, this system detects the malignant cells and the highly eligible precancerous cells which is cost effective and reproducible. [ABSTRACT FROM AUTHOR]