Delipid extracorporeal lipoprotein filter from plasma system: a new intensive lipid lowering therapy for patients with acute ischemic stroke.

Objectives: To investigate the safety and efficacy of the delipid extracorporeal lipoprotein filter from plasma (DELP) system, a new low-density lipoprotein cholesterol (LDL-C) adsorption system, in acute ischemic stroke (AIS) patients. Patients and methods: In the present study, a total of 180 AIS patients were enrolled during March 2019 to February 2021. They were divided into DELP group (n1 = 90) and the control group (n2 = 90). The treatment protocol and vascular access of DELP treatment was established and evaluated. For the DELP group, clinical data and laboratory results including plasma lipid and safety parameters before and after the apheresis were collected and analyzed. For all participants, neurological scores were assessed and recorded. Results: For the DELP group, 90 patients including 70 males and 20 females were included. The mean LDL-C was significantly decreased from 3.15 ± 0.80 mmol/L to 2.18 ± 0.63 mmol/L (30.79%, p < 0.001) during a single DELP treatment, and decreased from 3.42 ± 0.87 mmol/L to 1.87 ± 0.48 mmol/L (45.32%, p < 0.001) after two DELP treatments. No clinically relevant changes were observed in hematologic safety parameters and blood pressure levels except for hematocrit and total protein throughout the whole period of DELP treatment. The DELP group showed improvement relative to the control group in National Institute of Health stroke scale scores (NIHSS) on the 14th and 90th day after stroke. Moreover, the DELP group had a significantly higher ratio of mRS 0 to 1 on the 90th day after stroke. Conclusion: The new LDL-C adsorption system, the DELP system, may provide a new option for intensive lipid lowering therapy in AIS patients in view of its safety, efficacy, and operation feasibility.

[A genetic case study of neurofibromatosis type 1-microdeletion syndrome caused by atypical 17q11.2 microdeletion].

OBJECTIVE: To provide appropriate treatment strategy and precise genetic counseling through studying the phenotype and genotype of a patient featuring learning difficulty and abnormal gait. METHODS: Detailed history taking, physical examination and auxiliary examination (including neuropsychological evaluation, brain imaging and skeletal system X ray) were conducted. The patient was also analyzed by whole exome sequencing, G banding karyotyping and array-based comparative genomic hybridization (aCGH). Multiples ligation-dependent probe amplification (MLPA) was applied to his parents to determine the origin of genomic variation. RESULTS: In addition to obvious dermatological manifestation (Cafe-au-Lait spots), the patient also had facial abnormalities, ocular disorders, skeletal malformations, neurological manifestations, psychiatric and behavioral abnormalities. Whole exome sequencing and G banding karyotyping were both negative. aCGH has identified a microdeletion at 17q11.2, which encompassed the NF1 and neighboring genes. Neither parents has carried the same microdeletion by MLPA analysis. CONCLUSION: The patient had a de novo 17q11.2 microdeletion, which probably accounted for his neurofibromatosis type 1-microdeletion syndrome phenotype.

Statin-naïve anti-HMGCR antibody-mediated necrotizing myopathy in China.

This study aimed to clarify the phenotypes and therapeutic responses of statin-naïve anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibody-mediated necrotizing myopathy. Anti-HMGCR antibodies were tested with ELISA methodology in the sera sample of 98 patients meeting the idiopathic inflammatory myopathy criteria and with negative anti-signal recognition particle (SRP) antibody. Twenty-one statin-naïve patients with anti-HMGCR antibody were detected (21.4%), with onset age from 6 to 67 years old. Proximal weakness and neck flexion weakness was the core neurological feature. The average maximal creatine kinase (CK) level was 7968.6 ±â€¯4408.7U/L. Muscle MR imaging showed edema (88.2%), moderate or severe fatty replacement (70.6%) and muscle atrophy (88.2%) in lower limbs. Fatty replacement was significantly more prominent in the medial and posterior musculature than the anterior musculature (p = 0.0013). Seven (33.3%) patients were treated with mono-glucocorticoid, and thirteen (61.9%) patients needed adjuvant immunosuppressant. Eight (38.1%) patients experienced symptom relapse. The early-onset patients (<50 years old) were found with higher CK levels, shorter duration course, poorer response to adjuvant immunosuppressant and more recurrent weakness than the late-onset patients (≥50 years old). As a conclusion, Statin-naïve anti-HMGCR antibody-mediated necrotizing myopathy may not be rare. Compared with late-onset statin-naïve patients with anti-HMGCR antibody-mediated necrotizing myopathy, early-onset patients presented severer clinical features and worse therapeutic responses.