Diagnosis & Disease Information

scientist researching

Wilson Disease Is a Complex Systemic Disease, Study Suggests

The diversity of the gut microbiota is reduced in Wilson disease, found a new study conducted in a mouse model of the disease. Moreover, the function of amino acid, carbohydrate, and lipid metabolisms are also dysregulated as are tri- and diglyceride, phospholipid, and sphingolipid metabolisms. Based on these findings, the study authors said that Wilson…

Clinical Trial

Novel Expanded Access Program Will Evaluate ALXN1840 for WD

An upcoming study will assess the benefit of continued treatment with ALCN1840 in patients with Wilson disease (WD). Researchers have initiated an expanded access study for patients with WD that could receive a treatment scheme with a novel drug named ALXN1840. The intended sample of this clinical trial is cataloged as an intermediate-size population. This…

MRI brain

Newly Identified Brain Pathway Might Explain Dystonia in WD

A specific pathway between the lenticular nucleus and the cerebellum might play a key role in the pathogenesis of Wilson’s disease (WD), according to a study recently published in Brain Sciences. “Together, these findings highlight that lenticular nucleus–cerebellum circuits may serve as neural biomarkers of dystonia and provide implications for the neural mechanisms underlying dystonia…


Case Report: Liver Transplantation in a Pediatric Patient With ALGS and COVID-19

Liver transplantation was successfully performed in a pediatric patient with Alagille syndrome (ALGS) and a concomitant severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, according to a case report recently published in Hepatology Research. The patient, a 3-year-old girl with liver cirrhosis, was admitted to a hospital for deceased-donor liver transplantation. As the patient’s liver…

Gene research with petri dish

AATD PiZ Variant More Prevalent Among Patients With Bronchiectasis

Researchers discovered that the PiZ variant in alpha-1 antitrypsin deficiency (AATD) is significantly higher in patients with bronchiectasis compared to the general population, according to a study published in Archivo de Bronconeumologia.  Studies indicate that AATD is a potentially treatable cause of bronchiectasis. In terms of genetic prevalence, the PiZ variant is the most common…

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