Rituximab Treatment as Second-Line Therapy in Glucocorticoid Nonresponsive Graves' Orbitopathy: A Nonrandomized, Controlled, Interventional Study.

Objective: In moderate-to-severe Graves' orbitopathy, rituximab is recommended as second-line therapy in patients nonresponsive to intravenous glucocorticoids. We aimed to evaluate rituximab as early second-line therapy, as data are scarce and contradictory.

Methods: In this nonrandomized, controlled, interventional study, patients with Graves' orbitopathy started on intravenous glucocorticoids.

Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.

Introduction: Distinguishing paracentric inversions (PAIs) from chromosomal insertions has traditionally relied on fluorescent in situ hybridization (FISH) techniques, but recent advancements in high-throughput sequencing have enabled the use of genome sequencing for such differentiation. In this study, we present a 38-year-old male carrier of a paracentric inversion on chromosome 2q, inv (2)(q31.2q34), whose partner experienced recurrent miscarriages.

Novel findings in a Swedish primary familial brain calcification cohort.

Introduction: Brain calcifications are frequent findings on imaging. In a small proportion of cases, these calcifications are associated with pathogenic gene variants, hence termed primary familial brain calcification (PFBC). The clinical penetrance is incomplete and phenotypic variability is substantial.

Psychiatric complications in Graves' disease.

Background: Mood disorders are common in Graves' disease despite treatment. The pathogenic mechanisms involved are unknown and so is whether previous psychiatric disease influences these symptoms.

Methods: This is a longitudinal study conducted in Sweden on 65 women with newly diagnosed Graves' disease and 65 matched controls.