Bioinformatics analysis identifies potential ferroptosis key genes in the pathogenesis of diabetic peripheral neuropathy.

Background: Diabetic peripheral neuropathy (DPN) is a serious complication in Diabetes Mellitus (DM) patients and the underlying mechanism is yet unclear. Ferroptosis has been recently intensively researched as a key process in the pathogenesis of diabetes but there yet has been no related bioinformatics-based studies in the context of DPN.

Methods: We used data mining and data analysis techniques to screen differentially expressed genes (DEGs) and immune cell content in patients with DPN, DM patients and healthy participants (dataset GSE95849).

Association studies of interleukin-8 gene in Graves' disease and Graves' ophthalmopathy.

Graves' disease (GD) is an autoimmune disorder, and the most common extrathyroidal manifestation is Graves' ophthalmopathy (GO), which is believed to be caused by a complex interaction between genetic and environmental factors. Many studies have reported that interleukin-8 (IL-8), a potent pro-inflammatory cytokine, is associated with many autoimmune diseases and could increase the degree of lymphocyte infiltration within the thyroid gland. The aim of the present study is to elucidate whether IL-8 is associated with the development of GD and GO.

High frequency of down-regulation of E-cadherin detected in benign sporadic insulinomas by multiplex ligation-dependent probe amplification.

Insulinomas are the most common functioning pancreatic endocrine tumors, and the previous studies showed that the chromosomal aberrations of Chr.9q, 11q, and 22q were associated with the development and progression of insulinoma. To analyze the genetic alterations in sporadic insulinoma, we tested 23 tumor samples using multiplex ligation-dependent probe amplification.

Clinical and genetic analysis for four Chinese families with Prader-Willi syndrome.

Prader-Willi syndrome (PWS) is a complex, genetic, multisystem disorder. Its major clinical features include neonatal hypotonia and failure to thrive, mental retardation, hypogonadism, short hands and feet, hyperphagia-caused obesity, and characteristic appearance. The genetic basis of PWS is also complex.

The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.

Wolfram syndrome (WFS), also known as DIDMOAD, is an infrequent cause of diabetes mellitus. WFS is an autosomal recessive neurodegenerative disease characterized by various clinical manifestations such as diabetes mellitus, optic atrophy, diabetes insipidus, deafness, neurological symptoms, renal tract abnormalities, psychiatric disorders, and gonadal disorders. The majority of patients with WFS carry the loss of function mutations in the WFS1 gene.