Multiphase computed tomography angiography derived from computed tomography perfusion data for the differential diagnosis of intracranial aneurysm and infundibular dilation.

Background: As infundibular dilation (ID) is less likely to cause hemorrhage or other clinical sequelae than an intracranial aneurysm (IA) and treating infundibulum itself may put the patient at unnecessary risk for stroke, it is important to distinguish between the ID and IA. Given the limitations of conventional single-phase computed tomography angiography (sCTA) to show small branches of intracranial arteries, the application of multiphase computed tomography angiography (mCTA) for identification seems promising. Our main objective was to evaluate whether using mCTA derived from computed tomography perfusion (CTP) data can improve distinction between IA and ID. Methods: A total of 35 patients diagnosed with IA or ID of the posterior communicating artery at its junction with the internal carotid artery junction (ICA-PComA) by sCTA at the 8th Medical Center of Chinese PLA General Hospital between January 2019 and May 2022 were retrospectively selected. All patients underwent CTP. The simulated mCTA was reconstructed from 0.75 mm CTP data for assessment of vascular branches. All data were processed separately by 2 CTA post-processors; 2 observers diagnosed IA and ID by source and volume rendering (VR) images of sCTA and VR images of mCTA, and compared the diagnostic efficacy of source and VR images of sCTA with VR images of mCTA. Results: The quality of the reconstructed images was more consistent between the 2 post-processors mCTA (K=0.856) than sCTA (K=0.648). The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of the source image for ID identification were 78.9%, 86.7%, 84.2%, 81.3%, and 80.0% for sCTA, 73.7%, 81.2%, 82.3%, 72.2%, and 77.2% for the VR image of sCTA, and 94.7%, 87.5%, 90.0%, 93.3%, and 91.4% for the VR image based on mCTA, respectively. The net reclassification index (NRI) of mCTA for VR and the source image of sCTA was 0.273 and 0.220, respectively. VR base on mCTA was on average better than VR and the source image of sCTA at differentiating ID from IA (P=0.005 and P=0.001, respectively). Conclusions: Compared to sCTA, mCTA is more helpful in improving the distinction of ID and IA.

Clinical Characteristics and Prognosis of Anti-AChR Positive Myasthenia Gravis Combined With Anti-LRP4 or Anti-Titin Antibody.

Objective: This study aimed to summarize the clinical characteristics and prognosis of patients with anti- acetylcholine receptor (AChR) positive myasthenia gravis (MG) with a combination of anti-LRP4 or Titin antibodies. Methods: A total of 188 patients with generalized MG before immunotherapy were retrospectively collected and then divided into three groups: single anti-AChR positive-MG (AChR-MG, 101 cases), anti-AChR combined with anti-low-density lipoprotein receptor-related protein four-positive MG (AChR+LRP4-MG, 29 cases), and anti-AChR combined with anti-Titin-positive MG (AChR+Titin-MG, 58 cases). Clinical manifestations, therapeutic responses to immunotherapy, and follow-up information were analyzed. Results: Of the 188 seropositive MG patients, 29 (15.4%) were positive for both AChR and LRP4 antibodies, and 58 (30.9%) were positive for both AChR and Titin antibodies. The mean disease onset ages in the three groups were 47.41 ± 7.0, 49.81 ± 9.2, and 48.11 ± 6.5 years, respectively. AChR+LRP4-MG showed female predominance (27.6% were males and 72.4% were females), with mild overall clinical symptoms. The AChR+Titin-MG group showed shorter times for conversion to generalized MG (5.14 ± 0.0 months) than the AChR-MG group (11.69 ± 0.0 months) and the AChR+LRP4-MG group (13.08 ± 0.5 months; P < 0.001 in both cases). Furthermore, AChR+Titin-MG group had increased bulbar dysfunction, higher incidences of thymoma (32.8 vs. 19.8% and 3.4%, P=0.035), more severe quantitative MG scores, as assessed by both QMG scores [15.5 (11.75-22.5) vs. 13 (8-19), P = 0.005; and 9 (6-14) P < 0.001], and MG-ADL scores [10 (8-13) vs. 8 (5-13), P = 0.018; and 6 (4-8), P < 0.001]. Treatment for AChR+Titin-MG was largely dependent on corticosteroids and immunosuppressive agents (56.7 vs. 19.2% and 16.7%, p = 0.028). The rates of achieving s(MMS) or better within 2 years following immunotherapy in the three groups were 51.5, 62.1, and 51.7%, respectively (P = 0.581). Conclusion: Clinical symptoms of anti-AChR positive MG combined with Titin antibody were more severe and progressed faster than those in the AChR + LRP4 and AChR groups. Regardless of antibody status, all patients responded well to immunotherapy and had relatively good prognoses.

Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations.

OBJECTIVES: To investigate the genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis (SALS) patients with TARDBP mutations, we carried out a genetic analysis in a cohort of 391 SALS patients and explored the clinical manifestations of patients with TARDBP variants. MATERIALS AND METHODS: The coding region of all five coding exons of TARDBP, exons 2-6, were sequenced for mutations in 391 Chinese SALS patients. The clinical features of patients with TARDBP mutations were described and compared with cases in literatures. RESULTS: Two missense mutations in TARDBP gene, c.1132A > G (p.N378D) and c.1147A > G (p.I383V), were detected in three cases, showing a low frequency (0.77%, 3/391) of TARDBP missense mutations in Chinese SALS patients. Based on a retrospective analysis of literatures, p.N378D mutation mainly presents a phenotype of early onset, whereas p.I383V mutation presents pure ALS or ALS alongside semantic variant primary progressive aphasia (svPPA), a type of frontotemporal dementia (FTD). CONCLUSIONS: Our results demonstrate that TARDBP mutation is a rare cause of Chinese SALS patients and expand the spectrum of phenotype. It is implied that genetic analysis of SALS patients plays a crucial role in uncovering the cause of disease, especially for cases developing early onset or alongside FTD.

Long-term efficacy and side effects of low-dose tacrolimus for the treatment of Myasthenia Gravis.

The study evaluated the efficacy of low-dose tacrolimus for treating Myasthenia Gravis (MG). Data were collected from 97 patients treated with low-dose tacrolimus from February 2011 to April 2015. Metabolic analysis was performed to determine more accurate tacrolimus dosing and patients were followed-up within clinic every 6 months for up to 4 years. The myasthenia gravis-specific activities of daily living scale was used to assess MG symptoms and their effects on patients' daily activities. All side effects and adverse reactions were thoroughly documented. At the end of follow-up, 6 patients were in complete stable remission, 17 patients were in pharmacological remission, 26 patients were in minimal manifestation status, 32 patients were improved, 2 patients were unchanged, 11 patients had worsening symptoms, and 3 patients died. Side effects were reported and/or observed in 24 patients, of which 7 patients experienced elevated blood glucose, 2 patients developed neoplasms, 3 patients developed gastrointestinal symptoms, 3 showed mild increases in aminotransferases, 3 patients suffered from bone marrow suppression, 2 patients suffered from skin rashes and erythema, and 1 patient required discontinuation of therapy. Transient renal insufficiency was also observed in 1 patient and 3 other patients had minor miscellaneous side effects. This study adds some knowledge on the efficacy and side effects of low-dose tacrolimus in the treatment of MG. Tacrolimus immunotherapy is a valid option for the management of MG, and can be gradually reduced in dose once symptoms are improved until complete withdrawal is achieved.