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Psychiatric Symptoms in Wilson's Disease-Consequence of Gene Mutations or Just Coincidence?-Possible Causal Cascades and Molecular Pathways.
Int J Mol Sci
November 2024
Second Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego Street 9, 02-957 Warsaw, Poland.
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. The genetic defect in WD affects the gene, which encodes the ATP7B transmembrane protein, which is essential for maintaining normal copper homeostasis in the body. It is primarily expressed in the liver and acts by incorporating copper into ceruloplasmin (Cp), the major copper transport protein in the blood.
View Article and Find Full Text PDFElectrophysiological and radiological diagnosis of hereditary motor and sensory polyneuropathy.
J Family Med Prim Care
June 2024
Department of Radiology and Imaging, King Abdul-Aziz University Hospital, King Saud University, Riyadh, Saudi Arabia.
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT), is a member of the inherited neuropathy family with specific clinical and genetical manifestations. More than twenty genes have been linked to HMSN, and the number might increase. Regarding diagnosis, a healthcare provider should be suspicious if the patient is young with a family history.
View Article and Find Full Text PDFSystemic Sclerosis as a Challenge for Heart Transplantation: A Case Report.
Transplant Proc
May 2024
Department of Cardiac, Vascular and Endovascular Surgery and Transplantology, Medical University of Silesia, Silesian Centre for Heart Diseases, Zabrze, Poland.
Objective: To assess the principles of qualification and the range of organ transplantation in a patient with diagnosis of system sclerosis with pulmonary manifestation and severe myocardial insufficiency.
Methods: We present the case of a 43-year-old patient with confirmed systemic sclerosis with pulmonary manifestations and biventricular heart insufficiency after disease exacerbation and sudden cardiac arrest in the pulseless electrical activity (PEA) mechanism with effective resuscitation, with increasing shortness of breath and the need for inotropes and levosimendan infusion without a significant improvement in his general status. Owing to the diagnosis of a systemic disease with no option for pharmacologic or any other treatment for heart failure, he was reevaluated and put on an urgent waiting list for isolated heart transplantation.
Randomized controlled double-blind trial of methylprednisolone versus placebo in patients with post-COVID-19 syndrome and cognitive deficits: study protocol of the post-corona-virus immune treatment (PoCoVIT) trial.
Neurol Res Pract
March 2024
Department of Neurology and Experimental Neurology, Corporate Member of Freie Universität Berlin and Humboldt Universität zu Berlin, Charité - Universitätsmedizin Berlin, Charité Campus Benjamin Franklin, Hindenburgdamm 30, 12203, Berlin, Germany.
Introduction: Post-COVID-19 Syndrome (PCS) includes neurological manifestations, especially fatigue and cognitive deficits. Immune dysregulation, autoimmunity, endothelial dysfunction, viral persistence, and viral reactivation are discussed as potential pathophysiological mechanisms. The post-corona-virus immune treatment (PoCoVIT) trial is a phase 2a randomized, controlled, double-blind trial designed to evaluate the effect of methylprednisolone versus placebo on cognitive impairment in PCS.
View Article and Find Full Text PDFAutoimmune Haemolytic Anaemia as a Rare and Potentially Serious Complication of Crohn's Disease in a 11-Year-Old Child-Case Report and Minireview.
Children (Basel)
October 2023
Department of Paediatrics, Allergology and Gastroenterology, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, 85-067 Torun, Poland.
Inflammatory bowel disease (IBD) is the term given to a heterogeneous group of chronic inflammatory diseases of the gastrointestinal tract (GI). These include ulcerative colitis (UC), where the inflammatory process involves only the intestinal mucosa, and Crohn's disease (CD), where it can involve the entire wall of the GI in all of its sections. In addition to typical gastrointestinal complaints, IBD manifests with a range of extraintestinal symptoms involving inter alia the eyes, joints, skin, liver and biliary tract.
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