Uncommon neoplasms mistakenly diagnosed as hidradenitis suppurativa: Report of three consecutive cases.

Hidradenitis suppurativa (HS) poses diagnostic challenges due to its clinical overlap with various skin conditions and neoplasms, potentially leading to misdiagnoses. The absence of a definitive diagnostic test and infrequent use of histopathology contribute to diagnostic complexities, exacerbated by the recent increased focus on HS. Three cases initially diagnosed and treated as HS underwent clinical work-up and skin biopsies to resolve diagnostic complexities.

Case report: A novel deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia.

Defects in are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77. Here, we describe an 8-year-old patient with severe and complicated spastic paraplegia, carrying a missense variant (p.Pro361Leu) and a novel intragenic deletion in Of note, the disease is unexpectedly progressing rapidly and in a biphasic way differently from the previously reported cases.

A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.

Background: Membrane Protein Palmitoylated 5 (MPP5) is a highly conserved apical complex protein, essential for cell polarity. Defects in neuronal cell polarity are associated with neurologic disorders. Only three patients with heterozygous MPP5 de novo variants have been reported so far, with global developmental delay, behavioral changes and in only one case epileptic seizures.

Whole-genome sequencing of hMPXV1 in five Italian cases confirms the occurrence of the predominant epidemic lineage.

The ongoing outbreak of monkeypox virus (hMPXV1) is the largest recorded in historically nonendemic countries. Genomic surveillance has emerged as a pivotal tool to track the spread and monitor the evolution of viral pathogens. Therefore, to assess the genetic diversity of circulating hMPXV1 in northern Italy in June to July 2022, we sequenced and analyzed five complete genomes of viruses sampled from patients presenting with a typical course of hMPXV1 infection.

Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic?

Background: The COVID-19 pandemic is a collective trauma that may expose susceptible individuals to high levels of stress. Pregnant women represent a high-risk population, considering that pregnancy is a period of heightened neuroplasticity and susceptibility to stress through epigenetic mechanisms. Previous studies showed that the methylation status of the gene is linked with prenatal stress exposure.