CABP4 mutation in mice shows alteration in protein expression level and neuron discharge frequency.

Background: The calcium-binding protein 4 (CABP4) gene is a newly identified epilepsy-related gene that might be associated with a rare type of genetic focal epilepsy; that is, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). In vitro, mutant CABP4 causes an increased inward flow voltage of calcium ions and a significant increase in the electrical signal discharge in hippocampus neurons; however, the role of CABP4 in epilepsy has not yet been specifically described, and there is not yet a CABP4 mutant animal model recapitulating the epilepsy phenotype. Methods: We introduced a human CABP4 missense mutation into the C57BL/6J mouse genome and generated a knock-in strain carrying a glycine-to-aspartic acid mutation in the gene. Quantitative real-time polymerase chain reaction (qRT-PCR) and Western blot were performed to evaluate the CABP4 expression level. Slice patch-clamp recording was carried out on pyramidal cells of prefrontal cortex layers II and III. Results: The CABP4G155D/+ mutant mice were viable and born at an expected Mendelian ratio. Surprisingly, the heterozygous (HE) mice did not display either an abnormal appearance or an overt seizure phenotype, and there was no statistically significant difference between the HE and wild-type (WT) mice in terms of overall messenger RNA (mRNA) and protein expression. However, the HE mutant mice showed an imbalance in the amount of protein expressed in the brain regions. Additionally, the patch-clamp recordings from the HE mouse layer II/III cortical pyramidal cells revealed an increase in the frequency of micro-excitatory post-synaptic currents (mEPSCs) but no change in the amplitude was observed. Conclusions: The findings of this study suggest that the CABP4 p.G155D mutation might be one of the mechanisms underlying seizure onset.

Efficacy and safety of switching from brand-name to domestic generic levetiracetam in children with epilepsy. / å·¦ä¹™æ‹‰è¥¿å¦çš„å›½äº§ä»¿åˆ¶è¯æ›¿æ¢æ²»ç–—å„¿ç«¥ç™«ç—«çš„ç–—æ•ˆåŠå®‰å ¨æ€§ç ”ç©¶.

OBJECTIVES: To study the efficacy and safety of domestic generic levetiracetam in replacement of brand-name levetiracetam in the treatment of children with epilepsy. METHODS: A retrospective analysis was performed on the medical data of 154 children with epilepsy who received domestic generic levetiracetam in the inpatient or outpatient service of Guangdong Provincial People's Hospital from May 2019 to December 2020. Domestic generic levetiracetam and brand-name levetiracetam were compared in terms of efficacy and safety. RESULTS: For these 154 children, the epilepsy control rate was 77.3% (119/154) at baseline. At 6 months after switching to domestic generic levetiracetam, the epilepsy control rate reached 83.8% (129/154), which showed a significant increase (P<0.05). There was no significant change in the frequency of seizures from baseline to 6 months after switching (P>0.05). The incidence of refractory epilepsy in children with no response after switching treatment was significantly higher than that in children with response (P<0.05). Before switching, only 1 child (0.6%) experienced somnolence, while after switching, 3 children (1.9%) experienced mild adverse drug reactions, including dizziness, somnolence, irritability, and bad temper. CONCLUSIONS: Switching from brand-name to generic levetiracetam is safe and effective and holds promise for clinical application, but more prospective randomized controlled trials are required in future.

[Urethral dilation with a zebra guidewire-guided fascia dilator for complex urethral stricture after hypospadias surgery].

OBJECTIVE: To evaluate the clinical effect of urethral dilation with a zebra guidewire-guided fascia dilator in the treatment of complex urethral stricture after hypospadias surgery. METHODS: This study included 12 cases of complex urethral stricture after hypospadias surgery that had failed to respond to other urethral dilation therapies. A zebra guidewire was put into the urethra via a ureteroscope placed in through a suprapubic puncture hole. Then a fascia dilator was inserted along the zebra guidewire for urethral dilation. A silicone catheter was reserved for 2 weeks after the dilation. RESULTS: All the 12 patients achieved smooth urination after removal of the catheter. During the 6 - 28 months follow-up, 8 of the cases were cured after 1 - 6 regular urethral dilations and the other 4 experienced no more dysuria. CONCLUSION: Urethral dilation with a zebra guidewire-guided fascia dilator is a safe and effective method for the treatment of complex urethral stricture after hypospadias surgery.

[Urethroplasty with transection of urethral orifice and preservation and lengthening of urethral plate: highly applicable to the treatment of hypospadias].

OBJECTIVE: To explore the feasibility of urethroplasty with transection of the urethral orifice and preservation and lengthening of the urethral plate in the treatment of hypospadias. METHODS: Forty-eight patients with hypospadias (18 of the coronal type, 21 the penile type, 8 the penoscrotal type and 1 the perineal type) underwent urethroplasty with transection of the urethral orifice and preservation and lengthening of the urethral plate. The surgical effects were observed by following up the patients for 3-27 months. RESULTS: One-stage surgical success was achieved in 44 of the cases, with satisfactory functional and cosmetic results but no complications. Two cases developed urinary fistula and another 2 urethral stricture, but all cured by the second surgery. CONCLUSION: Urethroplasty with transection of the urethral orifice and preservation and lengthening of the urethral plate is a simple, safe and effective surgical procedure for the treatment of hypospadias.