Disseminated Cryptococcal Gattii infection in a patient with anti-granulocyte-macrophage colony-stimulating-factor autoantibody: a case report.

Background: Cryptococcosis is an opportunistic fungal infection in immunocompromised patients. The major species include Cryptococcus grubii, Cryptococcus neoformans, and rarely, Cryptococcus gattii. Here we present a disseminated Cryptococcus gattii infection in a patient with elevated granulocyte-macrophage colony-stimulating-factor autoantibody which was successfully treated with antifungal therapy.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.

Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse.

Spinal muscular atrophy (SMA) is caused by low levels of the survival motor neuron (SMN) protein. Even though SMN is ubiquitously expressed, the disease selectively affects motor neurons, leading to progressive muscle weakness. Even among motor neurons, certain motor units appear more clinically resistant to SMA.

Safety, Tolerability and Pharmacokinetics of Intravenous Sodium Taurodeoxycholate, HY209, a GPCR19 Agonist Inhibiting Inflammasomal Activation.

Background: HY209 is a synthesized sodium taurodeoxycholate (TDCA) that is expected to serve as a novel treatment for sepsis by inhibiting the inflammasomal activation that suppresses the production of pro-inflammatory cytokines. This study aimed to assess the safety, tolerability and pharmacokinetics (PKs) of HY209 after intravenous administration in healthy subjects.

Methods: A dose-block randomized, double-blind, placebo-controlled, single ascending dose study was conducted.

Improvement of variant reclassification in genetic neurodevelopmental conditions.

Purpose: Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and increase the frequency of variants of uncertain significance (VUS). Because inheritance patterns aid in variant interpretation for neurodevelopmental conditions, genetic testing including only the proband leads to larger numbers of VUS than testing strategies that include the parents.

Methods: We reinterpreted genetic variants submitted to the Simons Searchlight research registry using American College of Medical Genetics and Genomics variant interpretation guidelines, familial cascade testing, and literature curation with annual VUS reevaluation.