Predictive complement biomarkers for relapse in neuromyelitis optica spectrum disorders.

Background: Biomarkers that predict disease activity and prognosis should be established for neuromyelitis optica spectrum disorders (NMOSD). In this study, we investigated the association between complement factors and the prognosis of NMOSD.

Methods: We validated laboratory parameters as potential prognostic factors in 34 patients with NMOSD (31 females and 3 males) whose serum was collected at the time of recurrence and who were subsequently followed-up for 3 years without the use of biologics.

Efficacy of apheresis in antibody-negative progressive encephalomyelitis with rigidity and myoclonus.

Introduction: Progressive encephalomyelitis with rigidity and myoclonus (PERM) is characterized by brainstem symptoms, muscle rigidity, and myoclonus. While autoantibodies to inhibitory neurons have been associated with the pathology, about 30% of cases are negative for autoantibodies. There are few reported cases of antibody-negative PERM and its clinical course and prognosis are unknown.

Two independent families with de novo whole APC gene deletion and intellectual disability: a case report.

Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.

Successful Fertility Preservation in a Case of Low-Grade Endometrial Stromal Sarcoma: A Multidisciplinary Approach Through the Oncofertility Network.

Low-grade endometrial stromal sarcoma (LGESS) is a rare disease, accounting for less than 1% of all uterine malignancies. Standard treatment is total hysterectomy and bilateral tubal oophorectomy, although fertility preservation may be desirable because of the young age of onset. We document a case of fertility preservation in a 27-year-old nulligravida diagnosed with LGESS, which not only enabled the successful birth of two live infants but also underscores the efficacy of a multidisciplinary approach to patient treatment through the Hyogo Oncofertility Network (HOF-net).