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Objective:To investigate the clinical phenotype and genotype of a male case of subcortical band heterotopia caused by mosaic mutation of DCX gene.Methods:The clinical data and magnetic resonance imaging (MRI) features of a male case of subcortical band heterotopia diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in August 2020 were analyzed retrospectively. At the same time, the whole exon sequencing of the families was performed by next generation sequencing method, the suspicious mutation was verified by polymerase chain reaction Sanger sequencing, and their genetic mutation characteristics were analyzed.Results:The proband, one male, aged 5 years and 1 month, was hospitalized in August 2020 with the complaint of intermittent convulsions for 4 years and six months. Clinical features included that limb muscle tension was slightly high, intellectual and motor development was backward, and head circumference was 48 cm. MRI of his head showed diffuse thick subcortical band heterotopia. The detection of whole exon sequencing in his family showed that there was hemizygous mosaic mutation in DCX gene (mosaic ratio 44%), c.148A>G (p.k50E). The mosaic ratios of oral mucosa and urinalysis were 38.2% and 44.8% respectively. His parents were wild-type, The mutation found in this patient has not been reported at home and abroad.Conclusions:The mosaic variation of DCX gene can cause subcortical band heterotopia in males. The variation of DCX gene c.148A>G (p.k50E) may be the possible cause of the proband, which expands the variation spectrum of subcortical band heterotopia.
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Objective:To investigate the clinical characteristics and mutation of MFSD8 gene in a family with neuronal ceroid lipofuscinosis type7 (CLN7).Methods:The clinical data of a CLN7 patient and her family from the Children′s Hospital Affiliated to Zhengzhou University in January 2018 were reviewed and analyzed. Whole exome sequencing of second-generation sequencing was used to analyze gene mutation results.Results:The proband, a five years and nine months old girl, admitted to the Children′s Hospital Affiliated to Zhengzhou University with the chief complaint of "intermittent seizures for seven months". She had the first seizure at the age of five years and two months, and different types of generalized tonic-clonic and atypical absence seizures were found. At the age of five years and nine months, she was admitted to the hospital with mild mental deterioration. She had normal motor and physical development. Ophthalmological evaluation revealed macular degeneration. The video electroencephalography revealed multifocal spikes or spike-and-wave, prominent in the anterior fronto-temporal regions. Magnetic resonance imaging (MRI) revealed cerebellar atrophy. Compound heterozygous mutations c.553 (exon 6) G>A and c.1391 (exon 13) C>T were found on her MFSD8 gene, supporting the diagnosis of CLN7. Each of her parent carried one of the mutations, and c.553 (exon 6) G>A was a new mutation. Her elder brother had the first seizure at the age of 6 years, with motor and mental deterioration as well as visual impairment. MRI revealed generalized cerebral atrophy. He had the same compound heterozygous mutations with his sister. No pathogenic mutation was found in her younger brother.Conclusions:CLN7 is a rare neurodegenerative disease, the main clinical features of which are epileptic seizures, progressive motor intelligence regression, visual loss, cranial MRI suggesting brain atrophy, and binocular macular degeneration. MFSD8 gene heterozygous mutations c.553G>A (p.V185I) and c.1391C>T (p.A464V) are the genetic etiology of this proband.
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Objective To evaluate the clinical efficacy and safety of ranibizumab in the treatment of corneal neovascularization(CNV)in elderly patients.Methods A total of 40 elderly patients(50 eyes)with conceal neovascularization were enrolled in this study at our hospital.Among them,20 patients(22 eyes)in observation group enrolled from January 2015 to December 2015,received subconjunctival injection of ranibizumab,and 20 patients(28 eyes)in control group enrolled from June 2014 to December 2014,receivedlaser photocoagulation.The visual acuity,the area of corneal neovascularization,intraocular pressure and therapeutic response rate were measured and compared between two groups before and 1 month,6 months and 12 months after treatment.All patients were followed up for 12 months to record the recurrence and complications.Results In the observation group,20 eyes(90.9％),19 eyes(86.3 ％)and 19 eyes(86.3％)got an improved eyesight at 1 month,6 months and 12 months of ranibizumab treatment,respectively,which were significantly higher than those in the control group(16/57.1％,14/50.0％,12/42.9％,x2 =6.910,5.866,8.010;P=0.031,0.020,0.016,respectively).The area of corneal neovascularization was decreased in both groups after treatment in the comparison of pretreatment.What is more important:at 1 month,6 months and 12 months of treatment,the areas of CNV were all significantly smaller in the observation group than in the control group (t =6.109,5.291,8.330;P =0.019,0.033,0.009,respectively).There was no significant difference in intraocular pressure before versus after treatment in both groups(both P＞ 0.05).The therapeutic response rate was 90.9% (20/22)in observation group,and 75.0% (21/28)in control group(x2 =6.109,P =0.006).During the 12-month follow-up after operation,the recurrence rate of CNV was significantly higher in control group(7 eyes,25.0％)than in observation group(2 eyes,9.1%) (x2 =8.668,P =0.003).Conclusions Subconjunctival injection of ranibizumab is effective and safe with a fewer complications in the treatment of corneal neovascularization in elderly patients,which is worthy of generalizing in clinical treatments.
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Objective To study MRI diagnosis and differential diagnosis of posterior fossa cyst with hydrocephalus in children. Methods MRI performances and clinical data of 56 children with cyst in the posterior fossa and hydrocephalus were analyzed and classified.Results 12 cases of Dandy-Walker malformation(DWM)showed absence of the vermis at different degrees and the enlarged fourth ventricle widely communicating with the large posterior fossa cyst,accompanied by elevation of the tentorium cerebella and hydrocephalus,in which 1 case combined with callosal agenesis,1 case with subependymal gray matter heterotopia and 1 case with subependymal gray matter heterotopia and small occipital encephalocele.9 cases of Blake's pouch cyst(BPC)showed mildly dilatation of the fourth ventricle,and the cyst was below the cerebellar and hydrocephalus.Neither cerebellar hypoplasia nor elevation of the tentorium cerebella was observed. The postirior wall of the cyst was observed on sagittal T 2WI in 5 cases.The choroid plexus of the fourth ventricular moving to the top wall of the cyst were seen on thin sagittal T 2WI in 1 case.35 cases of arachnoid cyst(AC)showed aggregation of cerebrospinal fluid,and the fourth ventricular and aqueductal stenosis at different degrees and hydrocephalus.Conclusion MRI has evident advantages at diagnosis and differential diagnosis of cystic malformations of the posterior fossa with hydrocephalus,especially on sagittal MRI.
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Objective To study the mechanism of RING finger protein 34 ( RNF34 ) involved in innate immunity . Methods Recombinant PCR was used and transient expression of the plasmid was achieved in HEK 293T cells.The cells were stimulated with Sendai virus ( SeV) or N-RIG-Ⅰfor the indicated time while luciferase activity was observed using the dual-luciferase reporter assay kit .Results We constructed the plasmid pcDNA 3-Flag-RNF34 and its three mutations .The study found that when stimulated by SeV , RNF34 could inhibit the activity of NF-κB and IFN-βmore significantly than RNF34-ΔFYVE, RNF34-ΔCID and RNF34-ΔRING.We also found that RNF 34 and its three mutants had similar inhibitory effect when the activation of NF-κB and IFN-βwas stimulated by the N-RIG-Ⅰ.Conclusion RNF34 negatively regulates innate immunity by acting on the RIG-Ⅰ-MAVS signaling pathway .
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Objective To investigate the effect of BTB/POZ ( broad complex, tramtrack and bric a brac/poxviruses and zinc finger) on proliferation of breast cancer cell lines.Methods The eukaryotic expression plasmid pCMV-HA-BPOZ was constructed by cloning from cDNA of human genome.Western blotting was used to detect the expression of pCMV-HA-BPOZ.Cells growth assay was used to detect the effect of BPOZ on proliferation and colony formation assay was used to detect the effect of BPOZ on cell growth ability.Results Western blotting showed that HA-BPOZ was efficiently expressed in cells.Moreover, the growth ability and proliferation of cells were significantly inhibited in BPOZ overexpressed cells compared with the control cells (both P <0.05).Conclusionp CMV-HA-BPOZ plasmid is constructed.BPOZ can restrain breast cancer cell lines MCF7 and ZR-75-1 cells from proliferating and growing.The results of our study can con-tribute to the study of functions of BPOZ in breast cancer.