OBJECTIVE To investigate the causes of intracranial infection after endoscopic microvascular decom-pression for the treatment of trigeminal neuralgia in a teaching hospital.METHODS An epidemiological survey was conducted on 2 patients(F and Z)who developed intracranial infections after microvascular decompression for trigemi-nal neuralgia in the department of neurosurgery of the Affiliated Hospital of Qingdao University in July 2024.Bacteriolog-ical sampling and culture were carried out for the staff,environment and materials involved in the surgery.The homology of strains between the strains recovered from the patients and those from the environmental was analyzed by means of pulsed-field gel electrophoresis(PFGE)and second-generation illumina sequencing.RESULTS All the three electric ra-zors that were used for preoperative shaving of the patients were found to be contaminated with Enterobacter hor-maechei and Klebsiella pneumoniae.Enterobacter hormaechei strain(E1)and K.pneumoniae strains(K1 to K4)were isolated from the cerebrospinal fluid of patient F.Enterobacter hormaechei strains(E2 and E3)were isolated from the cerebrospinal fluid and wound secretion of patient Z.PFGE analysis showed that the E.hormaechei strains(E1,E2 and E3)isolated from the patients were homologous to the strains of E.hormaechei isolated from the electric shavers(B2-E,B3-E and B4-E),and all these strains were of ST50 type and carried blaACT-15 and 6laCTX-M-3 genes,and that the K.pneumoniae strains(K1-K4)were also homologous to the K.pneumoniae strains isolated from the electric shavers(B2-K,B3-K and B4-K),and all these strains were of ST8 type and car-riedblaSHV-164 and blaTEM-1A genes.CONCLUSIONS The intracranial infections that occur after endoscopic microvas-cular decompression for the treatment of trigeminal neuralgia are related to the preoperative use of electric shavers contaminated with E.hormaechei and K.pneumonia during skin preparation.Therefore,it is necessary to carry out the disinfection of electric shavers that are used for skin preparation and monitor the disinfection effect.

OBJECTIVE To investigate the causes of intracranial infection after endoscopic microvascular decom-pression for the treatment of trigeminal neuralgia in a teaching hospital.METHODS An epidemiological survey was conducted on 2 patients(F and Z)who developed intracranial infections after microvascular decompression for trigemi-nal neuralgia in the department of neurosurgery of the Affiliated Hospital of Qingdao University in July 2024.Bacteriolog-ical sampling and culture were carried out for the staff,environment and materials involved in the surgery.The homology of strains between the strains recovered from the patients and those from the environmental was analyzed by means of pulsed-field gel electrophoresis(PFGE)and second-generation illumina sequencing.RESULTS All the three electric ra-zors that were used for preoperative shaving of the patients were found to be contaminated with Enterobacter hor-maechei and Klebsiella pneumoniae.Enterobacter hormaechei strain(E1)and K.pneumoniae strains(K1 to K4)were isolated from the cerebrospinal fluid of patient F.Enterobacter hormaechei strains(E2 and E3)were isolated from the cerebrospinal fluid and wound secretion of patient Z.PFGE analysis showed that the E.hormaechei strains(E1,E2 and E3)isolated from the patients were homologous to the strains of E.hormaechei isolated from the electric shavers(B2-E,B3-E and B4-E),and all these strains were of ST50 type and carried blaACT-15 and 6laCTX-M-3 genes,and that the K.pneumoniae strains(K1-K4)were also homologous to the K.pneumoniae strains isolated from the electric shavers(B2-K,B3-K and B4-K),and all these strains were of ST8 type and car-riedblaSHV-164 and blaTEM-1A genes.CONCLUSIONS The intracranial infections that occur after endoscopic microvas-cular decompression for the treatment of trigeminal neuralgia are related to the preoperative use of electric shavers contaminated with E.hormaechei and K.pneumonia during skin preparation.Therefore,it is necessary to carry out the disinfection of electric shavers that are used for skin preparation and monitor the disinfection effect.

OBJECTIVE: To analyze the clinical characteristics and ZBTB18 gene variant in a child with epilepsy and global developmental delay. METHODS: Clinical data and laboratory examination of the patient were reviewed. Whole exome sequencing (WES) was also carried out for the family trio. RESULTS: The main manifestations of the child included global developmental delay, short stature, epileptic seizures. EEG revealed frequent occurrence of sharp (slow) waves in the right central region during sleeping, with sharp waves occasionally seen in the frontal and right posterior temporal regions. Cranial MRI has shown no obvious abnormality. WES has identified a de novo pathogenic variant in the ZBTB18 gene [NM_205768.3: exon 2: c.1282_1283del (p.Phe428Leufs*72)]. Based on the guidelines from American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+PVS1_Moderate+PM2_Supporting). Following treatment with levetiracetam and rehabilitation, the seizures have been controlled for nearly half a year, with improvement of the psychomotor and language development. So far 28 children have been discovered with ZBTB18 gene mutations, and there was a significant difference in the clinical phenotypes of motor retardation, language retardation and epilepsy between those harboring frameshift/nonsense mutations and missense mutations. CONCLUSION The c.1282_1283del (p.Phe428leufs *72) variant of the ZBTB18 probably underlay the autosomal dominant mental disorder type 22 in this child. Compared with missense mutations, frameshift/nonsense mutations may predispose more to motor retardation, delayed language development and epilepsy.
Codon, Nonsense ; Epilepsy/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Whole Exome Sequencing

OBJECTIVE: To analyze the clinical and genetic characteristics of a child featuring Xia-Gibbs syndrome. METHODS: Whole exome sequencing was carried out for the child. RESULTS: The patient has presented with developmental delay, hypotonia, strabismus and snoring. Cranial MRI revealed hypomyelination, while the EEGs were normal. Genetic testing revealed a de novo variant of the AHDC1 gene, namely c.730delA (p.Ile244Serfs*16), which was classified as pathogenic (PVS1+PS2+PM2). Together with 60 cases from the literature, individuals harboring a AHDC1 variant commonly have delayed motor milestones, speech delay, facial dysmorphism and hypotonia. Dysgenesis of corpus callosum is also common. In total 47 AHDC1 variants have been reported, among which truncating variants were the most common type. CONCLUSION The c.730delA (p.Ile244Serfs*16) variant of the AHDC1 gene probably underlay the Xia-Gibbs syndrome in this patient. Above finding has provided a basis for the clinical diagnosis.
Abnormalities, Multiple/genetics* ; Child ; DNA-Binding Proteins/genetics* ; Humans ; Intellectual Disability/genetics* ; Muscle Hypotonia ; Mutation ; Whole Exome Sequencing

OBJECTIVE: To analyze the clinical characteristics and CSNK2B gene variant of 2 children with Poirier-Bienvenu neurodevelopmental syndrome, and to identify the possible pathogenic causes and provide evidence for clinical diagnosis. METHODS: Two children with Poirier-Bienvenu neurodevelopmental syndrome were selected from West China Second University Hospital, Sichuan University. The clinical manifestations, laboratory examination and CSNK2B gene variant were analyzed. RESULTS: The main manifestations of 2 children were epilepsy, motor or intellectual retardation. Whole exon sequencing showed that CSNK2B gene c. 291+4A>T heterozygous splicing variant was found in case one, and CSNK2B copy number variation(CNV) was lost in case two. Case one received no special treatment, followed up for 8+ months, seizures and motor development were improved; case two had recurrent seizures for 9+ years, and received levetiracetam and clonazepam antiepileptic treatment. No seizures have occurred for 2 years now, and a large number of epileptic discharges can still be seen in video electroencephalogram (VEEG) with slightly backward intelligence and language development. CONCLUSION Our study further proves that the pathogenic variant of CSNK2B is related to epilepsy with developmental disorder, and enrich is the CSNK2B gene variant spectrum. The pathogenesis of CSNK2B has great clinical heterogeneity, with great difference in severity of nervous system injury and different prognosis, and agenesis of corpus callosum may be one of its clinical phenotypes.
Child ; DNA Copy Number Variations ; Developmental Disabilities/genetics* ; Epilepsy/genetics* ; Humans ; Intellectual Disability/genetics* ; Seizures/genetics*

Objectives To observe the effect ofGuizhi-Fuling capsule on the expression of AngⅡand eNOS.Methods 72 male Sprague-Dawley(SD) rats, aged three months, were randomly divided into three groups: a sham-operated group(n=24),a model group (n=24) and a treatment group (n=24). Renal tubulointerstitial fibrosis model was established via unilateral ureteral obstruction(UUO). Rats in the treatment group were treated withGuizhi-Fulingcapsule (125mg/kg),and the same volume of normal saline were given to the rats in the sham -operated group and the model group at the same time. Rats were put to death at day 7, 14, 21 Immunohisto-chemistry staining was performed to investigate both the expression of AngⅡ, eNOS in TIF. Results 1 Renal interstitium injury was seen in the model group and the treatment group rats at day 7. The degree of renal interstitium fibrosis in rats from the treatment group was lighter than that of the model group at day 7, 14, 21 (P< 0.01).2 At day 7,14 and 21, the expression of AngⅡin rats from the model group and the treatment group were higher than that of the sham-operated group (P<0.01), but those of the treatment group was lower than those of the model group (P< 0.01). The expression of AngⅡ in rats from the model and the treatment groups were increasing,the highest in the 21th day (P<0.01).3 At day 7, 14 and 21, the expression of eNOS in rats from the model group and the treatment group were lower than that of the sham-operated group  (P<0.01).ConclusionsGuizhi-Fuling capsule can alleviate the lesion of renal tissue in obstructive kidney and delay the development of TIF.