Objective To explore the clinical and neuroimaging features of a frontotemporal dementia with parkinsonism linked to chromosome 17 ( FTDP-17 ) pedigree caused by mutation of microtubule-associated protein tau ( MAPT) gene.Methods The proband and one patient from a FTDP-17 pedigree were assessed through standardized clinical evaluation , neuropsychology assessment , video-electroencephalogrom ,MRI, genetic sequencing , as well as 18 F fludeoxyglucose ( FDG) SPECT for brain metabolism and 11 C 2β-carbomethoxy-3β-( 4-fluoro ) tropane ( CFT ) PET for dopamine transporter ( DAT ) distribution, respectively.Results A FTDP pedigree with 15 patients (6 still alive) was recruited to this study.The proband and one affected patient were genotyped and confirmed as MAPT c .1788T>G mutation. Parkinsonism was the first symptom for both two patients . Personality, speech changes and dementia accompanied with brain atrophy were developed at the later stage in one patient .The 18 F FDG SPECT studies illustrated asymmetric hypometabolism of the temporal , frontal lobes and basal ganglia in two patients . Regarding to the 11 C CFT PET, one affected patient showed asymmetric decreased uptake of tracer in basal ganglia regions.Conclusions FTDP-17 can display a confusingly broad clinical phenotype , with the parkinsonism as the first symptom . Brain glucose metabolism and DAT distribution could be potential biomarkers in early diagnosis of FTDP-17.

Objective. This study characterized the activation of platelet integrin aⅡbβ3 induced by two anti-human platelet te-traspanin monoclonal antibodies(mAbs),HI117 and SJ9A4. Methods. Using 125I-labeled human fibdnogen(Fg), specific Fg binding to human platelets induced by HI117 and SJ9A4 was measured as indication of activation of platelet integrin αⅡbβ3 by the two mAbs. Results. H1117 and SJ9A4( 10μg/ml and 20μg/ml) induced evident specific Fg binding to human platelets, sug-gesting that the two mAbs evoked activation of platelet integrin αⅡbβ3. Further study indicated that HI117 and SJ9A4 induced integrin t Ⅱ 1β3 activation independent of platelet Fc-receptors, and that HI117 and SJ9A4-induced integrin αⅡbβ3 activation was inhibited by sphingosing, aspirin, apyrase, and/or PGI2. Conclusion. The anti-platelet tetraspanin(CD9)mAbe,HI117 and SJ9A4, can induce platelet integrin αⅡbβ3 act-vation independent of Fc-receptors. Three signaling pathways,i.e.thromboxane,secreted ADP, and cAMP pathways may be involved in the process, with protein kimse C activation presumably being the comtmon step of the three pathways.

OBJECTIVE: To explore the genetic etiology of a child featuring global developmental and mental retardation. METHODS: Chromosome G-banding karyotype analysis, copy number variation sequencing (CNV-seq) and high-resolution chromosome banding were used to screen the genomic variant in the child and his parents. RESULTS: Both the child and his father were found to have a karyotype of 46,XY,del(18)(q21.1q21.3), whilst his mother was 46,XX. CNV-seq analysis showed that the child was arr[19]18q21.2-q21.32(chr18:48 422 190-58 039 582)×1, with a 10.58 Mb deletion which encompassed the TCF4 gene. The same deletion was found in neither parent. High-resolution banding revealed that the father has a fragment of 18q21.1q21.3 inserted into 5p13.1. CONCLUSION The child was diagnosed with Pitt-Hopkins syndrome due to the 18q21.2q21.32 deletion. Chromosome karyotyping and CNV-seq can effectively identify submicroscopic chromosome anomalies.
Child ; Chromosome Banding ; Chromosome Deletion ; DNA Copy Number Variations ; Facies ; Humans ; Hyperventilation ; Intellectual Disability/genetics*

Objectives　To characterize the activation of platelet integrin αⅡbβ3 induced by two anti-human platelet tetraspanin monoclonal antibodies (mAbs), HI117 and SJ9A4, and investigate their potential mechanism of action. Methods　Using 125　　I-labeled human fibrinogen (Fg), specific Fg binding to human platelets induced by HI117 and SJ9A4 was measured. Results　HI117 and SJ9A4 (10?μg/ml and 20?μg/ml) induced specific Fg binding to human platelets, suggesting that the two mAbs evoked activation of platelet integrin αⅡbβ3. Further study indicated that HI117 and SJ9A4 induced integrin αⅡbβ3 activation independent of platelet Fc-receptors, and that HI117 and SJ9A4-induced integrin αⅡbβ3 activation was inhibited by pretreatment of platelets with sphingosine, aspirin, apyrase, and/or PGI2. Conclusions　Anti-platelet tetraspanin (CD9) mAbs, HI117 and SJ9A4, can induce platelet integrin αⅡbβ3 activation independent of Fc-receptors. Three signaling pathways, namely thromboxane, secreted ADP, and cAMP pathways, may be involved in the process, with protein kinase C activation presumably being the common step of the three pathways.

Objective To investigate the incidence of Holmes tremor (HT) after stroke and its outcome after medication and rehabilitation. Methods Patients diagnosed as HT after stroke in the ward of neurorehabilitation department from October, 2019 to September, 2021 were reviewed the clinical features, imaging manifestations, drug treatment plan, rehabilitation evaluation scales scores, rehabilitation plan and outcome. Results There were five inpatients with HT (0.7%, 5/715), and all were hemorrhagic stroke, accounting for 1.7% of hemorrhagic stroke. The lesions were located in the midbrain and pons in three cases, cerebellum in one case and thalamus in one case. The tremor appeared 1.5 to seven months after stroke, limited on head and limbs, with other neurological dysfunction. After the comprehensive treatment of drugs and rehabilitation, tremor improved in four cases, and ineffective in one case. The motor and balance function improved less, and the activities of daily living improved somehow. Conclusion The incidence of Holmes tremor is low in stroke patients. The tremor might respond to the treatment, but motor function would not.

Objective To explore the risk of venous thromboembolism (VTE), especially lower-extremity deep vein thrombosis (DVT) and pulmonary embolism (PE), for stroke patients in rehabilitating, and the functional outcome. Methods A total of 3 557 stroke patients in the neurological rehabilitation center of Beijing Bo'ai Hospital for stroke rehabilitation from January, 2015 to October, 2020 were reviewed through the electronic medical record system. Demographic characteristics, stroke characteristics (type and location), laboratory data (D-dimer polymer and arterial partial pressure of oxygen), motor function (Brunnstrom stage, Fugl-Meyer Assessment of motor and balance, modified Ashworth Scale score of triceps crus, and Holden Walking Ability Classification), activities of daily living (Barthel Index), and anticoagulant/antiplatelet treatment data were collected and analyzed. Results The incidence of DVT and PE was 28.5% and 1.29%, respectively. Most were found 30 days later after onset. The incidence of PE was higher after ischemic stroke (χ2 = 12.49, P < 0.001) rather than hemorrhagic stroke. The patients with hemispheric stroke, severe lower-extremity paralysis, and poor activities of daily living were more prone to complications associated with VTE. After rehabilitation, the function of stroke patients with PE could be improved (|t| > 4.302, P < 0.001). Conclusion The risk of DVT and PE in patients during stroke convalescence may not be negligible, and those with older age, previous history of thrombosis, severe stroke, and severe limb paralysis may be stratified in high-risk. Following anticoagulation treatment, early individualized comprehensive rehabilitation can be done for patients with PE to improve their function and activities of daily living.