Objective To analyze the intraoperative and postoperative common complications of Enterprise stent-assisted embolization of intracranial aneurysms and the causes and preventive measures. Methods One hundred forty-three patients with intracranial aneurysm treated with Enterprise stent-assisted embolization at the Department of Neurosurgery,Yijishan Hospital,the First Hospital Affiliated to Wannan Medical College from January 2012 to March 2014 were analyzed retrospectively. The common intraoperative and postoperative complications and its possible causes,as well as the appropriate management were analyzed,and the prognoses were observed. Results A total 143 patients(205 aneurysms)with intracranial aneurysm were enrolled,included 43 with unruptured aneurysm,12 with recurrent aneurysm,and 88 with ruptured aneurysm. A total of 170 Enterprise stents were used. Twenty-two patients (15. 4%)had complications. Among them,2 had intraoperative aneurysm rupture,and they recovered well and discharged after active treatment. Thirteen patients had acute thrombosis,11 of the patients completely restored blood flow immediately after tirofiban and/or urokinase,microcatheter and guidewire-contact thrombolysis. The thrombolysis failed in 1 patient,and the blood flow was slow in 1 patient. Six patients had different degrees of cerebral infarction after procedure,and 1 died (peroperative Hunt-Hess grade Ⅳ). Three patients had vasospasm and they were improved after reducing blood vessel wall irritation and papaverine infusion. The introperative stent guidewire was broken and the stent in place was difficult in 1 case. The last coil packed difficultly during the procedure,and it protruded into the parent artery in 1 case. Two patients had non-aneurysmal hemorrhage after procedure. After conservative treatment,one left unilateral limb muscle strength decline and the other was stable after craniotomy,but leaving aphasia and hemiplegia. Conclusion When using the Enterprise stent-assisted embolization for complex aneurysms,grasping the indications strictly,strengthening the perioperative management and improving the operative skills may reduce or avoid the occurrence of complications.

OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a child with Hereditary spastic paraplegia (HSP). METHODS: A child with HSP who was admitted to the Third Affiliated Hospital of Zhengzhou University on August 10, 2020 due to discovery of tiptoeing for 2 years was selected as the study subject, and relevant clinical data was collected. Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. And trio-whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing. Bioinformatic software was used to analyze the conservation of variant sites. RESULTS: The child was a 2-year-and-10-month-old female with clinical manifestations including increased muscle tone of lower limbs, pointed feet, and cognitive language delay. Trio-WES results showed that she had harbored compound heterozygous variants of c.865C>T (p.Gln289*) and c.1126G>A (p.Glu376Lys) of the CYP2U1 gene. And the corresponding amino acid for c.1126G>A (p.Glu376Lys) is highly conserved among various species. Based on guidelines from the American College of Medical Genetics and Genomics, the c.865C>T was predicted as a pathogenic variant (PVS1+PM2_Supporting), and c.1126G>A was rated as a variant of uncertain significance (PM2_Supporting+PM3+PP3). CONCLUSION The child was diagnosed with HSP type 56 due to compound variants of the CYP2U1 gene. Above findings have enriched the mutation spectrum of the CYP2U1 gene.
Female ; Humans ; Cytochrome P450 Family 2/genetics* ; Mutation ; Pedigree ; Phenotype ; Spastic Paraplegia, Hereditary/genetics* ; Infant

OBJECTIVE: To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability. METHODS: A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: Genetic testing revealed that the child has harbored compound heterozygous variants of the KCNJ10 gene, namely c.557T>C (p.Val186Ala) and c.386T>A (p.Ile129Asn), which were inherited from her mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP4; PM1+PM2_Supporting+PM3+PP3+PP4). CONCLUSION The patient was diagnosed with EAST/SeSAME syndrome due to the compound heterozygous variants of the KCNJ10 gene.
Humans ; Child ; Female ; Intellectual Disability/genetics* ; Hearing Loss, Sensorineural/genetics* ; Ataxia ; Genetic Diseases, X-Linked ; Mutation

OBJECTIVE: To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB). METHODS: A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.
Child ; Female ; Humans ; Pregnancy ; Autistic Disorder/genetics* ; Brain ; Computational Biology ; Genetic Counseling ; Mutation ; Nerve Tissue Proteins/genetics* ; Neuro-Oncological Ventral Antigen ; Neurodevelopmental Disorders ; RNA-Binding Proteins

Objective:To observe the clinical efficacy and any side effects of using ultrasound-guided injection of botulinum toxin A in treating juvenile sialorrhoea.Methods:Forty children with sialorrhoea were randomly divided into group A and group B, each of 20. Under the guidance of color Doppler ultrasound, botulinum toxin type A (BoNT-A) was injected into the children′s 2 parotid glands and their submandibular glands. Each parotid gland was injected with 20u of BoNT-A, while 10u was injected into the submandibular gland in group A and 20u was injected in group B. Before and 2, 8 and 12 weeks after the injections, the children′s sialorrhoea was evaluated using teacher drooling sizing (TDS), the drooling quotient and the Saxon test (ST). Any side-effects were also observed.Results:There was no significant difference in the average TDS score, drooling quotient or ST score between the two groups before the intervention. After the intervention all of those measurements had decreased significantly, but there were still no significant differences between the two groups in any measurement at any time point.Conclusions:Botulinum toxin type A injection under the guidance of ultrasound is accurate and safe. The injection of 10u is sufficient to relieve children′s sialorrhoea without serious side effects.

Objective:To observe the clinical efficacy and side effects of injecting different doses of botulinum toxin type A (BTX-A) into children with spastic cerebral palsy (CP) and tiptoe deformity.Methods:A total of 107 children with tiptoe deformity resulting from CP were divided into group A ( n=35), group B ( n=36) and group C ( n=36) using a random number table. Group A received 3u/kg injections of BTX-A, group B received 4u/kg injections and group C received 5u/kg. The injections were guided by color Doppler ultrasound and followed by 4 courses of rehabilitation therapy. Before and 1, 3 and 6 months after the treatment, the modified Tardieu scale (MTS) was used to assess gastrocnemius spasms, while sections D and E of gross motor function scale 88 (GMFM-88) and the pediatric balance scale (PBS) were used to evaluate motor functioning and balance. Any side effects were also observed. Results:After the treatment, improvement was observed in all of the measurements, though there were no significant differences in the degree of improvement nor in the incidence of side effects among the three groups.Conclusions:There is no significant difference in clinical efficacy or side effects involved in using different doses of BTX-A to treat tiptoe deformity in children with spastic cerebral palsy. The recommended dosage is therefore 3u/kg.