BACKGROUND The aim of this study was to determine the risk for Bipolar Disorder (BD) in Wilson's disease (WD) and to measure the impaired Quality of Life (QL) in BD with WD using standardized psychiatric diagnostic tools and a case control design. METHODS This was a case control study. The cases were 23 consecutive patients with WD treated at the University Hospital in Cagliari, Italy, and th...

Androgen-mediated wolffian duct (WD) development is programmed between embryonic d 15.5 (e15.5) and 17.5 in male rats, and WD differentiation has been shown to be more susceptible to reduced androgen action than is its initial stabilization. We investigated regulation of these events by comparing fetal WD development at e15.5-postnatal d0 in male and female androgen receptor knockout mice, and ...

Abstract More than 40 human diseases, mainly diseases affecting the central nervous system, are caused by expansion of unstable nucleotide repeats. Repeats sequences like (CAG)n present in different genes can be responsible for various system. An expanded hexanucleotide repeat (GGGGCC)n C9ORF72 gene has been characterized as most frequent genetic cause amyotrophic lateral sclerosis and frontote...

A high fat meal, frequently known as western diet (WD), exacerbates atherosclerosis and diabetes. Both these diseases are frequently associated with renal failure. Recent studies have shown that lipopolysaccharide (LPS) leaks into the circulation from the intestine in the setting of renal failure and after WD. However, it is not clear how renal function and associated disorders are affected by ...

Wilson's disease (WD) is a rare autosomal recessive inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B. The presentation is usually neurologic or hepatic, seen in 40% of patients. Diagnosis depends primarily on clinical features, biochemical parameters and the presence of the Kayser-Fleischer ring. Here a case of Wilson disease with various neurological...

Background and Aim: Long-term D-Penicillamine (D-Pen) therapy in Wilson disease (WD) has numerous adverse effects which advocates its withdrawal, but with an inherent risk of relapse. This prospective study was conducted aim to evaluate incidence relapse following withdrawal D-Pen from Combination (D-Pen + Zinc) maintenance phase previously symptomatic hepatic WD. Methods: Hepatic WD patients <...

OBJECTIVE Patients with Wilson's disease (WD) may develop a wide variety of neuropsychiatric symptoms, but there are few reports of autonomic dysfunction. Here, we described evidence of small fiber and/or autonomic dysfunction in 4 patients with WD and levodopa-responsive parkinsonism. METHOD We reviewed the charts of 4 patients with WD who underwent evaluation for the presence of neuromuscul...