Objective To explore the safety and efficacy of policosanol in elder patients with high on-treatment platelet reactivity ( HPR) after drug-eluting stent ( DES) implantation. Methods This study was a prespecified subgroup analysis of the multicenter, randomized SPIRIT trial,in which there were a total of 169 elder patients (≥60 years old) with HPR. Among these patients, 30 patients were in group A ( given clopidogrel 75 mg/d for one year) , 75 patients in group B ( given clopidogrel 150 mg/d for 30 days followed by 75 mg/d until one year ) and 64 patients in group C ( given policosanol 40 mg/d for 6 month and clopidgrel 75 mg/d for one year ) . All patients were treated with aspirin at the same time. The primary endpoint was the reversion rate of HPR at 30 days (reversion was defined as platelet aggregation ﹤65%). The secondary endpoint was 2-year major adverse cardiac events ( MACE ) rate, which included cardiac death, non-fatal myocardial infarction and ischemic symptoms driven target vessel revascularization. The safety endpoint was any bleeding as defined by the Bleeding Academic Research Consortium ( BARC ) definition. Results At 30 days, the reversion rate of HPR in group C was numerically higher as compared with group A ( 42. 9% vs. 23. 3. 0%, P=0. 068 ) , and similar with group B ( 42. 9% vs. 49. 3%, P=0.447). MACE occurred in 4 (13.3%), 5(6.7%) and 3(4.7%) patients in group A, B and C respictively ( P=0. 352). Bleeding events in group A and group C were both markedly lower in comparison to group B (3. 3% vs. 17. 3% vs. 1. 6%, P=0. 001). At the 24-month follow-up, the MACE-free survival rates were not significantly different (95. 3% vs. 93. 3% vs. 86. 7%, P=0. 146). Conclusions For elder patients with HPR, policosanol reduced platelet reactivity to a similar extent in comparison of high maintenance dose of clopidogrel without increasing bleeding risk.

Objective To describe the clinical spectrum,especially sleep disorder in three patients diagnosed with Morvan syndrome.Methods Three consecutive patients were identified with Morvan syndrome in the Department of Neurology, Peking Union Medical College Hospital between December 2014 and March 2016.The character in three cases has been studied from several aspects such as clinical presentation, imaging, polysomnography (PSG), cerebrospinal fluid and serum.Results Serum test showed serum contactin-associated protein 2 (CASPR2)antibodies strongly positive (+++) and leucine-rich glioma inactivated protein 1 antibodies positive (+) in three patients.Neuropsychiatric features, neuromyotonia, neuropathic pain, dysautonomia, agrypnia excitata presented in all three patients.The agrypnia excitata was characterized by severe insomnia, excessive motor activity during the night.Agrypnia excitata was diagnosed in three patients according to their history.PSG was finished in case 2 and case 3.PSG in one patient (case 2) documented severe insomnia (sleep efficiency was 59%), lack of cyclic sleep organization with a predominance of stage 1 non-rapid eye movement sleep episodes intermixed with brief rapid eye movement, and a marked reduction of spindles and delta sleep;PSG in another patient (case 3) revealed complete absence of recognizable sleep.Sleep disorders and other symptoms resolved completely or almost completely in two patients (case 1,case 2) who received immunotherapy.Case 3 died from sudden cardiac death before immunotherapy.Conclusions Morvan syndrome usually is associated with high-titer CASPR2 antibodies in serum.Agrypnia excitata is cardinal manifestation of Morvan syndrome in association with a spectrum of neurologic presentations.Early immunotherapy could provide a favorable outcome.

Objective To identify the spectrum of sleep disorders in the patients diagnosed with limbic encephalitis associated with anti leucine rich glioma inactivated protein 1 (LGI1) antibody.Methods Thirteen patients were identified with limbic encephalitis associated with LGI1 antibody in the Department of Neurology,Peking Union Medical College Hospital between December 2012 and August 2017.The characters of the 13 cases were studied from several aspects such as clinical presentation,imaging,polysomnography,cerebrospinal fluid and serum.Results Serum test and/or cerebrospinal fluid test showed LGI1 antibody positive in all the 13 patients.Clinical presentation included:cognitive impairment,seizures,neuropsychiatric features.Sleep disorders presented in all patients,including insomnia,dream enactment behaviors,hypersomnia,involuntary movement.Polysomnogram in the 13 patients revealed that sleep efficiency decreased in 10 patients (＜ 80％),N3 sleep decreased in 10 patients,rapid eye movement sleep decreased in 13 patients;period limb movement disorder was identified in seven patients,period limb movement index was 15.6-224.4/h,four of the seven patients also had frequent irregular motor activity;six patients had frequent faciobrachial dystonic seizures (20-83 times throughout the night);rapid eye movement sleep behavior disorder (RBD) was diagnosed in three patients.Sleep disorder resolved almost completely in 10 of 13 patients who received immunotherapy.Conclusions Sleep disorders are cardinal manifestations of limbic encephalitis associated with LGI1 antibody,including insomnia,RBD,hypersomnia,involuntary movement.They may respond favorably to immunotherapy.

Objective:To evaluate the utility of whole-exome sequencing (WES) in early diagnosis for children with language delay/disorder.Methods:Children with language delay/disorder who were admitted to the Department of Health Care, Children′s Hospital Affiliated to the Capital Pediatric Institute from January 2019 to December 2020 were analyzed retrospectively. Based on informed consent, the peripheral blood of the children and their parents was collected for WES. Combining the clinical phenotypes of the children, the candidate variants, including single nucleotide variants (SNVs) and copy number variations (CNVs), were selected for validation and family segregation analysis using Sanger sequencing, real-time PCR or CNV-Seq. The pathogenicity of variants was evaluated based on ACMG guideline following with finial genetic diagnosis. Based on whether genetic diagnosis was achieved or not, 125 children with comprehensive examination of the Children Neuropsychological and Behavioral Scale(CNBS-R2016) were sub-grouped (positive/negative group), and the total scores and the detailed scores of five developmental sections (gross motor, fine motor, adaptive ability, language and social behavior ability) between two subgroups were compared.Results:A total of 165 children with language delay/disorder were recruited, including 109 males and 56 females. The ratio of boys to girls was 1.95∶1.The age of the children was (3.2±1.2) years old, the median age was 3.0 years. 45 children carry disease-related pathogenic/likely pathogenic variants, including 36 SNVs and 9 CNVs. The genetic diagnostic yield of this cohort was 27.3% (45/165). The inheritance analysis for core family members showed de novo variant accounted for 86% of genetic diagnosis (31/36). The positive diagnosis rate in girls was 45% (25/56), which was significantly higher than that in boys (18.3%, 20/109, χ2=12.171, P<0.05). There was no significant difference in the rate of positive diagnosis among all age groups (χ2=4.349, P>0.05). Interestingly, the scores of gross motors of positive group were significantly lower than that of negative group (61.5 vs. 69.4, t=-2.610, P<0.05). Otherwise, no significant difference was seen between two groups( t=-0.933, -1.298, -0.114, -0.214, all P>0.05). Conclusions:Language delay/disorder has complex genetic heterogeneity. WES has important application value in early etiological diagnosis for children with language delay/disorder.

Objective:To evaluate the utility of whole-exome sequencing (WES) in early diagnosis for children with language delay/disorder.Methods:Children with language delay/disorder who were admitted to the Department of Health Care, Children′s Hospital Affiliated to the Capital Pediatric Institute from January 2019 to December 2020 were analyzed retrospectively. Based on informed consent, the peripheral blood of the children and their parents was collected for WES. Combining the clinical phenotypes of the children, the candidate variants, including single nucleotide variants (SNVs) and copy number variations (CNVs), were selected for validation and family segregation analysis using Sanger sequencing, real-time PCR or CNV-Seq. The pathogenicity of variants was evaluated based on ACMG guideline following with finial genetic diagnosis. Based on whether genetic diagnosis was achieved or not, 125 children with comprehensive examination of the Children Neuropsychological and Behavioral Scale(CNBS-R2016) were sub-grouped (positive/negative group), and the total scores and the detailed scores of five developmental sections (gross motor, fine motor, adaptive ability, language and social behavior ability) between two subgroups were compared.Results:A total of 165 children with language delay/disorder were recruited, including 109 males and 56 females. The ratio of boys to girls was 1.95∶1.The age of the children was (3.2±1.2) years old, the median age was 3.0 years. 45 children carry disease-related pathogenic/likely pathogenic variants, including 36 SNVs and 9 CNVs. The genetic diagnostic yield of this cohort was 27.3% (45/165). The inheritance analysis for core family members showed de novo variant accounted for 86% of genetic diagnosis (31/36). The positive diagnosis rate in girls was 45% (25/56), which was significantly higher than that in boys (18.3%, 20/109, χ2=12.171, P<0.05). There was no significant difference in the rate of positive diagnosis among all age groups (χ2=4.349, P>0.05). Interestingly, the scores of gross motors of positive group were significantly lower than that of negative group (61.5 vs. 69.4, t=-2.610, P<0.05). Otherwise, no significant difference was seen between two groups( t=-0.933, -1.298, -0.114, -0.214, all P>0.05). Conclusions:Language delay/disorder has complex genetic heterogeneity. WES has important application value in early etiological diagnosis for children with language delay/disorder.