Alvarezkronborg5783

Rearrangements of PDGFRB are defining cytogenetic abnormalities seen in "Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRB" and are generally evident by common cytogenetic methods. Here we present an unique case in which karyotyping and fluorescence in situ hybridization (FISH) analysis were negative, and the PDGFRB rearrangement was detected by next-generation sequencing (NGS) analysis. The patient presented with approximately one-year history of leukocytosis including neutrophilia, eosinophilia, basophilia and granulocytic left shift. Bone marrow biopsy revealed a hypercellular marrow with panmyelosis, eosinophilia and mast cell hyperplasia. Blasts were not increased. Ancillary studies revealed a normal karyotype and absence of BCR-ABL1 fusion gene. NGS identified AFAP1L1-PDGFRB fusion, which was confirmed by polymerase chain reaction amplification followed by direct Sanger sequencing. The patient was treated with imatinib and showed normalization of peripheral blood leukocytosis, which lasted for at least six months. This case highlights that cytogenetics/FISH study alone may be insufficient to detect all PDGFRB rearrangement, which is critical for the patient's management. We suggest that molecular analysis capable of detecting fusion genes should be performed in all similar cases.Neuromyelitis optica spectrum disorders (NMOSD) and myasthenia gravis (MG) are disorders that affect the central nervous system and the neuromuscular junction respectively. Although both conditions are rare, reports of the coexistence of these two pathologies are increasing worldwide. Rarely, patients with MG develop aggressive forms of neuromyelitis optica (NMO) after thymectomy. Here, we describe two Peruvian patients with the association of MG and NMO.Background We determined how the Cambridge Neuropsychological Test Automated Battery (CANTAB) compared to the Minimal Assessment of Cognitive Function in multiple sclerosis (MACFIMS) in terms of sensitivity, specificity, and predictive values in detecting cognitive impairment in multiple sclerosis (MS) patients. Methods Sixty MS patients were recruited, 2 of whom were lost to follow-up. On the first day of the neuropsychological examination, the standard MACFIMS battery and the day after, the CANTAB (paired-associate learning (PAL), reaction time (RTI), rapid visual information processing (RVP), and spatial working memory tasks (SWM)) were completed by the patients. The sensitivity, specificity, and predictive values of the CANTAB in the differentiation of cognitively impaired (CI) patients from not cognitively impaired (NCI) ones were compared with those of the MACFIMS battery using appropriate statistical tests. Results Fifty-eight patients were categorized into two groups of CI (n=16 (27.58%)) and NCI (n=42 (72.41%)) based on the MACFIMS battery standard criteria. The best reporter indices and their cut-off scores for differentiation of CI from NCI patients in each task of the CANTAB were "total errors=13" for PAL, "between errors=26" for SWM, "five-choice reaction time=368.57" for RTI, and "mean latency=522.14" for RVP. The optimal cut-off point for distinguishing CI from NCI in the CANTAB was found to be an impaired function in 3 or more tasks [(AUC (95% CI) 0.97 (0.94-1.00); p less then 0.001)]. Accordingly, 36.20% of the patients were CI based on the CANTAB criteria. The inter-test agreement (CANTAB and MACFIMS batteries) was found to be the highest (Cohen's κ (95% CI) 0.80 (0.64-0.96)). Conclusion Results confirm that the CANTAB can discriminate CI from NCI MS patients with high accuracy, and its results are comparable to those of the MACFIMS battery; thus, they might be interchangeably used in the clinical practice.Background Neuromyelitis optica spectrum disorders (NMOSD) are autoimmune inflammatory disorders in central nervous system (CNS) characterized by symptoms of optic nerve, spinal cord, brainstem and cerebrum injuries. Recent studies have shown that monoclonal antibodies (Rituximab, Eculizumab, Inebilizumab, Satralizumab, etc.) were effective for the treatment of NMOSD. We performed a meta-analysis to evaluate the efficacy and safety of these monoclonal antibodies in NMOSD. Methods The MEDLINE, EMBASE, Central Register of Controlled Trials (CENTRAL) and clinicaltrials.gov database were searched for randomized controlled trials (RCTs) which had assessed the therapy of monoclonal antibody in NMOSD patients. Results We pooled 524 (monoclonal antibody group, n = 344 and placebo group, n = 180) from 4 RCTs and 444 patients (84.7%) were AQP4-IgG seropositive. Monoclonal antibody therapy reduced annualized relapse rate (mean -0.27, 95% CI, -0.36 to -0.18, P less then 0.0001), on-trial relapse risk (RR 0.25, 95% CI 0.12 to 0.52, P = 0.0003), EDSS (Expanded disability status scale) score (mean -0.51, 95% CI, -0.92 to -0.11, P = 0.01) and serious adverse events (RR 0.59, 95% CI 0.37 to 0.96, P = 0.03) but didn't show any significant differences in total adverse events or mortality. In the subgroup analysis, we found that comparing with other monoclonal antibodies, Eculizumab might be more effective in decreasing on-trial relapse risk (Chi2 =9.84, P =0.002) for AQP-4 positive patients. Conclusions Monoclonal antibody therapy was effective and safe in NMOSD treatment. More RCTs were expected to assess monoclonal antibodies in NMOSD.Background Multiple sclerosis has both high healthcare and social impacts. Objective The purpose of this article is to analyse the available literature describing the economic burden of multiple sclerosis and to compare costs among studies examining main cost drivers. Methods A literature search on studies published in English on cost-of-illness of multiple sclerosis included in this review using PubMed, the Cochrane Library, SCOPUS and Web of Science includes a retrospective horizon and it describes direct and indirect costs in patients categorized into severity groups. Results Several papers were obtained from the database search (n=37). Onametostat chemical structure Additionally, results from "hand searching" were also included, where a wider horizon was considered. Cost estimates were compared among studies that used a societal perspective on costs, time-period studied, and year of price level used. The estimated total annual cost per patient in Europe is on average 40,300€ (n=20). In addition, differences by geographic areas and severity groups are also considered.