Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.

Collagen XII, a member of a protein family called fibril associated collagen with interrupted triple helices (FACIT), is an important component of extracellular matrix and is essential for bridging the neighbouring fibrils. Mutations in collagen XII have been recently described to cause a rare extracellular matrix-related myopathy in those whose phenotype resembles collagen VI-related dystrophies and were negative for pathogenic variants in COL6A genes. The authors report a 4-year old girl presented with a phenotype mimicking Ullrich congenital muscular dystrophy and genetically confirmed to have pathogenic variants in COL12A1 gene thus, expanding the phenotypic spectrum of COL12A1-related myopathy.

A Rare Case of Neurosyphilis Presenting As Normal Pressure Hydrocephalus Syndrome.

Neurosyphilis, a chronic infection of the nervous system by Treponema pallidum can present in all stages of syphilis. Recently, it is found that neurosyphilis presents with novel manifestations. Here, we report a young patient who had neurosyphilis presenting as Normal Pressure Hydrocephalus (NPH) with bilateral optic atrophy.

HyPE study: hydroxychloroquine prophylaxis-related adverse events' analysis among healthcare workers during COVID-19 pandemic: a rising public health concern.

Background: The rising burden of Coronavirus disease (COVID-19) has led to the mass use of hydroxychloroquine by healthcare workers (HCWs). Adverse event profile of this drug when used as prophylaxis is not well known in the literature.

Methods: A retrospective, cross-sectional study was conducted across the country using semi-structured web-based questionnaire among COVID-19 negative and asymptomatic healthcare workers, taking hydroxychloroquine prophylaxis.