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您的检索式：作者名="Yaxian Deng"
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| 1 | Childhood strokes in China describing clinical characteristics, risk factors and performance indicators: a case-series study显示文摘Aim To investigate clinical characteristics,risk factors(RFs),neurologic deficits and medical care provided in children who had a stroke in China.Methods We conducted a retrospective case-series study using the medical records of children aged 1 month to 18 years with arterial ischaemic stroke(AIS)or haemorrhagic stroke(HS)(with the entry codes I60,I61,I62,I63(ICD-10)),who were admitted to different hospitals in Beijing,between January 2018 and December 2018.We obtained the following information from the charts:demographic characteristics,clinical presentations,RFs for paediatric stroke,laboratory examination,neuroimaging records and neurologic sequelae.Results We identified 312 first admissions for stroke(172 AIS and 140 HS).The mean age at onset was 8.6±3.9 years for patients who had an AIS and 8(5–13)years for patients who had an HS.There were more males than females in both groups(AIS:59.88%vs 40.12%;HS:52.14%vs 47.86%).A known aetiology was identified in 92.44%and 86.43%of patients who had an AIS and HS,respectively.The leading cause of AIS was cerebrovascular diseases including moyamoya(68.6%),while that for HS was arteriovenous malformation(51.43%).The most common initial clinical presentation was hemiplegia(86.05%)in patients who had an AIS and headache(67.86%)in patients who had an HS.The use of healthcare,including acute treatment(antithrombotic in 17.44%,anticoagulant in 5.23%)and secondary prevention(antithrombotic in 6.39%,anticoagulant in 1.16%),varied and was significantly lower among patients who had an AIS.The most common complications were epilepsy(22.09%)and pneumonia(4.65%)in patients who had an AIS and epilepsy(17.14%)and hydrocephalus(12.14%)in patients who had an HS.Neurological deficits occurred in 62.8%of patients who had an AIS and 72.86%of patients who had an HS.Conclusion Cerebral arteriopathy was a major RF for both AIS and HS in children living in China.Large epidemiological studies are required to identify RFs to prevent stroke as well as appropriate interventions. | Yaxian Deng Gaifen Liu Guitao Zhang Juanyu Xu Chunmei Yao Lei Wang Chengsong Zhao Yongjun Wang | 2022 | Stroke & Vascular Neurology2022，7，2： | 1 |
| 2 | Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation显示文摘Importance:Infantile convulsions and choreoathetosis(ICCA)is a rare neurological disorder.Many affected patients are either misdiagnosed or prescribed multiple antiepileptic drugs.Objective:To explore therapeutic drug treatments and dosages for ICCA in children.Methods:Detailed clinical features(e.g.,past medical history and family history),genetic features,and treatment outcomes were collected from the records of six patients with ICCA.Results:Mean age at paroxysmal kinesigenic dyskinesia(PKD)onset was 8 years 8 months(range,3-12 years);the clinical presentation was characterized by daily short paroxysmal episodes of dystonia/dyskinesia.All patients had infantile convulsions at less than 1 year of age,and the mean onset age was 5.5 months(range,4-7 months).Two patients had a family history of ICCA,PKD,or benign familial infantile epilepsy.Whole exome sequencing identified the c.649-650insC mutation in PRRT2 in six patients;three mutations were inherited and three were de novo.All patients were prescribed low-dose carbamazepine and showed dramatic improvement with the complete disappearance of dyskinetic episodes after 3 days.They attended follow-up for 5-17 months and were attack-free until the final follow-up.Interpretation:PRRT2 mutations are the primary cause of ICCA.Lowdose carbamazepine monotherapy is effective and well-tolerated in children. | Yaxian Deng Juanyu Xu Chunmei Yao Lei Wang Xiaohuan Dong Chengsong Zhao | 2022 | Pediatric Investigation2022，6，1： | 0 |
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