Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants / 中华儿科杂志

Objective: To summarize the phenotypes of epilepsy in patients with MBD5 gene variants. Methods: A total of 9 epileptic patients, who were treated in the Department of Pediatrics, Peking University First Hospital from July 2016 to September 2021 and detected with MBD5 gene pathogenic variants, were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively. Results: Among 9 patients, 6 were male and 3 were female. Age at seizure onset ranged from 5 to 89 months. Multiple seizure types were observed, including generalized tonic clonic seizures (GTCS) in 7 patients, myoclonic seizures in 5 patients, focal seizures in 5 patients, atypical absence seizures in 3 patients, atonic seizures in 2 patients, myoclonus absence seizures in 1 patient, epileptic spasms in 1 patient, and tonic seizures in 1 patient. There were 8 patients with multiple seizure types, 2 patients with sensitivity to fever and 5 patients with clustering of seizures. Two patients had a history of status epilepticus. All patients had developmental delay before seizure onset. Nine patients had obvious language delay, and 6 patients had autism-like manifestations. Five patients had slow background activity in EEG. Interictal EEG showed abnormal discharges in 9 patients. Brain magnetic resonance imaging (MRI) was normal in all patients. A total of 9 epileptic patients carried MBD5 gene variants, all of them were de novo variants. There were MBD5 gene overall heterozygous deletion in 1 patient, large fragment deletions including MBD5 gene in 3 patients and single nucleotide variations (c.300C>A/p.C100X, c.1775delA/p.N592Tfs*29, c.1759C>T/p.Q587X, c.150_151del/p.Lys51Asnfs*6, c.113+1G>C) in 5 patients. The age at last follow-up ranged from 2 years and 9 months to 11 years and 11 months. At the last follow-up, 2 patients were seizure-free for more than 11 months to 4 years 6 months, 7 patients still had seizures. Conclusions: The initial seizure onset in patients with MBD5 gene variants usually occurs in infancy. Most patients have multiple seizure types. The seizures may be fever sensitive and clustered. Developmental delays, language impairments, and autistic behaviors are common. MBD5 gene variants include single nucleotide variations and fragment deletions. Epilepsy associated with MBD5 gene variants is usually refractory.

Differentially expressed genes in asthenospermia: a bioinformatics-based study / 中华男科学杂志

<p><b>OBJECTIVE</b>To study the differentially expressed genes in asthenospermia to gain a deeper insight into the molecular mechanisms of the disease.</p><p><b>METHODS</b>We analyzed the differentially expressed genes in asthenospermia using GATHER, PANTHER and ToppGene online bioinformatics tools.</p><p><b>RESULTS</b>Our bioinformatics mining and analyses revealed that the differentially expressed genes in asthenospermia played important roles in the cellular protein and macromolecular metabolism, protein modification, cell death, cell apoptosis and apoptosis induction.</p><p><b>CONCLUSION</b>Asthenospermia patients experience a decline in sperm activity and the basic life activities of sperm simultaneously, and are also prone to cell apoptosis or death. Such differentially expressed genes as KIF3B, MYO15A, KIF6, KIF26B, KIF3A, DNHD2, DMN, DYNC2H1, STARD9, MYOHD1, and TPM1, which are involved in cytoskeletal structure, microtubule movement and cell movement, may be associated with asthenospermia, and therefore deserve further studies.</p>

Expressions of cysteine-rich secretory protein 2 in asthenospermia / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the mRNA and protein expression levels of cysteine-rich secretory protein 2 (CRISP2) in the sperm of asthenospermia patients, and explore their relationship with sperm motility and related molecular mechanism.</p><p><b>METHODS</b>We collected 78 semen samples from adult male patients with asthenospermia and another 70 from healthy volunteers as controls. We extracted total RNA and total protein from the sperm following purification of the sperm by Percoll gradient centrifugation, and detected the relative expressions of CRISP2 mRNA and protein in the two groups by RT-PCR, SYBR Green real-time PCR and Western blot.</p><p><b>RESULTS</b>The expression of CRISP2 mRNA was down-regulated by 4.3 times and that of the CRISP2 protein by 1.71 times in the asthenospermia patients, significantly lower than in the normal control group (P < 0.05).</p><p><b>CONCLUSION</b>The down-regulation of CRISP2 mRNA and protein expressions in the sperm of asthenospermia patients may be closely related with decreased sperm motility, which suggests that CRISP2 may serve as a potential molecular target for the research of asthenospermia.</p>

Effects of cyclosporine-impregnated versus freeze-dried bone allografts in repairing radial defects in rabbits: a comparative study / 南方医科大学学报

<p><b>OBJECTIVE</b>To compare the effects of cyclosporine-impregnated bone allograft (CAB) and freeze-dried bone allograft (FDAB) in repairing radial defects in rabbits.</p><p><b>METHODS</b>Thirty New Zealand white rabbits were randomized into bone graft donor group, experimental group, and control group (n=10). The bilateral ilia of the donor rabbits were dissected to prepare CAB and FDAB. In the other 20 rabbits, a 10-mm long segmental osteoperiosteal defect was induced in the right radius and repaired with CAB (experimental group) or with FDAB (control group). At postoperative weeks 4 and 12, 5 rabbits from each group were sacrificed to evaluate the bone healing by radiographic, general and histological observations.</p><p><b>RESULTS</b>Four weeks after the operation, the rabbits in the experimental group showed significantly higher X-ray scores (P=0.001) with greater amount of new bone and better incorporation of the allograft and autogenous bone than those in the control group. At 12 weeks, the X-ray scores were still significantly higher in the experimental group (P=0.002), which also showed better bone remodeling than the control group.</p><p><b>CONCLUSION</b>CAB is superior to FDAB for repairing radial defects in rabbits, but the potential involvement of local immunoreaction in this difference awaits further investigation.</p>

Correlation of aging with psychological and organic ED: nocturnal electrobioimpedance volumetric assessment of 83 cases / 中华男科学杂志

<p><b>OBJECTIVE</b>The ratio of psychological to organic ED changes with aging. This study aimed to analyze the results of nocturnal electrobioimpedance volumetric assessment (NEVA) for ED patients of different age groups and their significance in the diagnosis of ED.</p><p><b>METHODS</b>A total of 83 ED patients were divided into 4 age groups (< or = 29 yr, 30 -39 yr, 40 -49 yr and > or = 50 yr) and detected for nocturnal penile tumescence (NPT) by NEVA.</p><p><b>RESULTS</b>Thirty-four of the cases were diagnosed as organic ED, and the other 49 as psychological ED. With the increase of age, the former was increased from 30.3% in the < or = 29 yr group to 60.0% in the > or = 50 yr group, while the latter decreased from 69.7% to 40.0%.</p><p><b>CONCLUSION</b>The percentage of organic ED tends to grow with the increase of age, while that of psychological ED is just the opposite.</p>

Identification of human testicular embryonal carcinoma proteins by two-dimensional gel electrophoresis and mass spectrometry / 南方医科大学学报

<p><b>OBJECTIVE</b>To separate and identify human testicular embryonal carcinoma proteomics using two-dimensional electrophoresis (2-DE) and mass spectrometry.</p><p><b>METHODS</b>Immobilized pH gradient two-dimensional polyacrylamide gel electrophoresis was used to separate the total proteins of the samples. After silver staining, PDQuest 7.30 image analysis software was applied to analyze the 2-DE images. Three of the proteins highly expressed in human testicular embryonal carcinoma were identified by matrix-assisted laser adsorption/ionization-time of flight-tandem mass spectrometry (MALDI-TOF-MS/MS).</p><p><b>RESULTS</b>2-DE effectively screened the differentially expressed proteins in the carcinoma tissues. Three proteins highly expressed in the carcinoma were successfully identified.</p><p><b>CONCLUSION</b>The proteins of human testicular embryonal carcinoma can be effectively separated and analyzed using 2-DE and mass spectrometry. Proteomic analysis offers a new means for further study of this carcinoma.</p>