Clinical profile of adult and pediatric patients with hepatic Wilson's disease.

Background: The clinical profile varies in patients with Wilson's disease (WD). There is paucity of data regarding adult and pediatric patients with hepatic WD.

Methods: As many as 140 consecutive patients diagnosed with hepatic WD between December 2006 and January 2021 were included in the study.

COVID-19 pandemic and inflammatory bowel disease from patients' perspective: A survey from COVID epicenter in India.

Background And Aim: The COVID pandemic and countrywide lockdown has had significant impact on patients with inflammatory bowel disease (IBD), with delay in diagnosis, difficulty in access to healthcare and unavailability of drugs. We conducted a telephonic survey to assess this impact.

Methods: Out of 350, 302 participated in the survey.

Adverse Events with D-penicillamine Therapy in Hepatic Wilson's Disease: A Single-Center Retrospective Audit.

Unlabelled: BACKGROUND AND OBJECTIVE: There are limited data on the adverse events of D-penicillamine in Wilson's disease (WD) that can result in dose modification or treatment discontinuation. The objective of this study was to observe the adverse events related to D-penicillamine in patients with hepatic WD.

Methods: A retrospective audit of prospectively registered hepatic WD patients at a tertiary care center between December 2006 and January 2020 was carried out.

Malignant Ventricular Tachycardia, Ventricular Wall Ablation, and Orthotopic Heart Transplantation.

Described herein are three patients with refractory ventricular tachycardia and one or more unsuccessful ablation procedures finally leading to orthotropic heart transplantation (OHT). The latter procedure allowed examination of the ventricular ablation sites, an unusual opportunity reported previously in few patients (all case reports). The acute ablation lesions are unique, with necrosis of the myocardial fibers adjacent to the endocardium and encircled by layers of extravasated erythrocytes in the deeper myocardial wall.

The ketogenic diet and the QT interval.

Long QT syndrome is a disorder of ventricular myocardial repolarization associated with an increased risk of life-threatening cardiac arrhythmias and sudden cardiac death. This report highlights a case of QT prolongation with torsades de pointes in a patient with baseline congenital long QT syndrome, believed to be precipitated by metabolic changes associated with the "ketogenic diet."

Differential Wnt-mediated programming and arrhythmogenesis in right versus left ventricles.

Several inherited arrhythmias, including Brugada syndrome and arrhythmogenic cardiomyopathy, primarily affect the right ventricle and can lead to sudden cardiac death. Among many differences, right and left ventricular cardiomyocytes derive from distinct progenitors, prompting us to investigate how embryonic programming may contribute to chamber-specific conduction and arrhythmia susceptibility. Here, we show that developmental perturbation of Wnt signaling leads to chamber-specific transcriptional regulation of genes important in cardiac conduction that persists into adulthood.

Expression of plant protein phosphatase 2C interferes with nuclear import of the Agrobacterium T-complex protein VirD2.

Agrobacterium tumefaciens transfers DNA to plant cells as a single-stranded DNA molecule (the T-strand) covalently linked to VirD2 protein. VirD2 contains nuclear localization signal sequences that presumably help direct the T-strand to the plant nucleus. We identified a tomato cDNA clone, DIG3, that encodes a protein that interacts with the C-terminal region of VirD2.

Identification of Arabidopsis rat mutants.

Limited knowledge currently exists regarding the roles of plant genes and proteins in the Agrobacterium tumefaciens-mediated transformation process. To understand the host contribution to transformation, we carried out root-based transformation assays to identify Arabidopsis mutants that are resistant to Agrobacterium transformation (rat mutants). To date, we have identified 126 rat mutants by screening libraries of T-DNA insertion mutants and by using various "reverse genetic" approaches.