We present a patient who had two allogeneic bone marrow transplantations for acute lymphocytic leukemia. She developed slowly progressive limb-girdle weakness in the context of other symptoms of graft-vs.-host disease (GVHD). Her myopathy symptoms had been initially attributed to GVHD, but when she progressed despite immunotherapy, genetic testing was requested. Initial testing was performed on a blood sample, identifying a variant of unknown significance in DMD. Subsequent testing of DNA from the patient's muscle tissue identified two pathogenic variants in CAPN3, with absence of the DMD variant (this latter variant presumed to have been received from the donor). Allele-specific digital droplet qPCR permitted the quantification of the donor variant in various tissues from the patient (whole skin, isolated fibroblasts, whole blood, saliva, buccal cells, urine sediment, and two muscle biopsies taken at a 2 year interval). This report emphasizes that genetic disease should still be considered in the context of presumably acquired disease, and also demonstrates the extent of transdifferentiation of donor cells into other tissues.The optimal range of blood pressure variability (BPV) for acute stroke patients with large-vessel occlusion (LVO) remains unclear. This study investigated the association between BPV from admission through the first 24 h after intra-arterial thrombectomy (IAT) and short-term outcome in LVO patients. We retrospectively analyzed 257 consecutive patients with LVO stroke who were treated with IAT. BP values were recorded at 2-h intervals from admission through the first 24 h after IAT. BPV, as reflected by pulse pressure variability (PPV), was determined based on standard deviation (SD), coefficient of variation (CV), successive variation (SV), and the difference between maximum and minimum blood pressure (ΔBP; systolic BP minus diastolic BP). The association between BPV and clinical outcome (Modified Rankin Scale score at 90 days) was analyzed by multivariate logistic regression analysis. Of the 257 included patients, 70 had a good outcome at 3 months. PPV from admission through the first 24 h after IAT was independently associated in a graded manner with poor outcome [multivariable-adjusted odds ratios (95% confidence interval) for the highest of PPV were 43.0 (8.7-212.8) for SD, 40.3 (9.8-165.0) for CV, 55.0 (11.2-271.2) for SV, and 40.1 (8.0-201.9) for ΔBP]. The area under the receiver operating characteristic curve (95% confidence interval) of the PPV parameters were 0.924 (0.882-0.965) for SD, 0.886 (0.835-0.938) for CV, 0.932 (0.891-0.973) for SV, and 0.892 (0.845-0.939) for ΔBP, and the Youden index values were 0.740, 0.633, 0.759, and 0.756, respectively. In summary, BPV from admission through the first 24 h after IAT was independently associated with poor outcome at 3 months in patients with LVO, with greater variability corresponding to a stronger association. Thus, PPV may be a clinically useful predictor of functional prognosis in LVO patients treated with IAT.Objective Investigating the relevance of the incomplete circle of Willis (COW) to the plaque wall distribution in the atherosclerotic middle cerebral arteries (MCAs) through utilizing high-resolution magnetic resonance imaging (HR-MRI), and its potential clinical impact. Methods This hospital-based study enrolled consecutive adult patients with acute ischemic stroke or transient ischemic attack, who received a 3.0T Achieva MR system scanning. The COW completeness was evaluated on MR angiography imaging, including anterior (A) and posterior (P)-COW sections. The MCA plaque wall distribution was assessed on HR-MRI. The occurrence of perforator infarction was detected on diffusion-weighted imaging. Results Among 87 patients (mean age = 62.39 ± 11.64 years old) with atherosclerotic plaques in the MCA M1 segments, the incomplete COW types were more prevalent than the complete COW type (incomplete P-COW, 83.9%; incomplete A-COW, 36.8%; complete COW, 8.1%). The incomplete A-COW had more inferior but fewer ventral plaques of MCA atherosclerosis than the complete A-COW, while the incomplete P-COW had fewer inferior MCA plaques than the complete P-COW.  https://www.selleckchem.com/mTOR.html  Moreover, symptomatic MCA plaques causing perforator infarctions were more likely to locate on the superior wall. Conclusion Our findings suggested that the COW completeness could influence the vessel wall distribution of the MCA plaques, among which the superior plaques of symptomatic MCA atherosclerosis was associated with branch occlusive disease.Background Despite rapid advances in research on Parkinson's disease (PD), in particular in the elucidation of genetic contributions, no disease-modifying therapy has become available to date. Objectives In the proposed project, we aim to investigate the potential effects of vitamin K2 (long-chain menaquinone 7, MK-7) in genetically determined PD with mitochondrial dysfunction. Methods A total of 130 study participants (26 biallelic Parkin/PINK1 mutation carriers, 52 sporadic PD patients, and 52 healthy controls) will receive the trial medication (MK-7 or placebo for 1 week). 31P-Magnetic resonance spectroscopy imaging of the forebrain and basal ganglia (31P-MRSI, primary endpoint) as well as other advanced neuroimaging methods, clinical assessment, including quantitative movement analysis, and biomarker sampling will be applied pre- and post-intervention. Innovation The proposed project is highly translational as it builds on compelling mechanistic data from animal studies as well as on a small preliminary data set in humans. Patients are selected based on their mutation-related mitochondrial dysfunction and compared to disease and a healthy control group in a personalized medicine approach. We will further investigate how neuroimaging and blood-derived biomarkers can predict individual treatment response in sporadic PD. Clinical trial registration This study was registered at the German Clinical Trial Registry (DRKS, DRKS00019932) on the 19th of December 2019.Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe vision disturbance, who was initially misdiagnosed as multiple sclerosis. Through genetic screening, this patient was later identified to have a full deletion of exon 4 and the novel p.P220L mutation in the arylsulfatase A (ARSA) gene. These mutations are reported for the first time in MLD. These data will help to update the mutation profiles of patients with MLD.