The genetic and clinical features of MORC2 gene-related neuropathy in Chinese patients / 中华神经科杂志

Objective:To summarize the genetic and phenotypic features of MORC family CW-type zinc finger 2 (MORC2) gene-related neuropathy in Chinese patients. Methods:The clinical and whole exome sequencing data of MORC2 gene-related neuropathy families with a definitive genetic diagnosis were collected from the Third Xiangya Hospital of Central South University between 2010 and 2023. Literature involving Chinese families with MORC2 gene-related neuropathy was extensively reviewed to provide a comprehensive summary of the genetic and phenotypic spectrum of the disease. Results:A total of 10 families with MORC2 gene-related neuropathy were identified and analyzed. Six different heterozygous pathogenic variants in the MORC2 gene were observed among these families, including the novel variant c.1330G>C (p.G444R) that had not been previously reported. Six families presented as axonal Charcot-Marie-Tooth disease caused by variants in the MORC2 gene (CMT2Z) phenotype with childhood or adult onset, and carried variants c.754C>T (p.R252W), c.1199A>G (p.Q400R), c.1330G>C (p.G444R), or c.1396G>A (p. D466N); 3 families manifested as severe spinal muscular atrophy (SMA)-like phenotype with infantile onset, all carried c.260C>T (p.S87L); 1 family carried c.1181A>G (p.Y394C), presented as DIGFAN syndrome phenotype with infantile onset combined with mental and motor retardation. Systematic review showed 8 Chinese families carried pathogenic variants of the MORC2 gene, among which 5 families were associated with the CMT2Z phenotype, carrying c.754C>T (p.R252W), c.1079A>G (p.E360G), c.1220G>A (p.C407Y), or c.1397A>G (p.D466G); 1 family was associated with SMA-like phenotype, carrying c.260C>T (p.S87L); and 2 families were associated with DIGFAN syndrome, carrying c.79G>A (p.E27K) and c.292G>A (p.G98R). Conclusions:A novel pathogenic variant c.1330G>C (p.G444R) of the MORC2 gene associated with the CMT2 phenotype is reported. Eleven pathogenic variants of the MORC2 gene have been reported in the Chinese patients to date, and c.754C>T(p.R252W) may be the most common. Patients with MORC2 gene-related neuropathy carrying different variants present with significant clinical heterogeneity, manifesting as CMT2Z, early-onset severe SMA-like myasthenia, or DIGFAN syndrome.

Study on the Distribution and Clinical Characteristics of TCM Syndromes in Infertility Patients with Autoimmune Thyroiditis / 中国中医药信息杂志

Objective To investigate the distribution and clinical characteristics of TCM syndromes in infertility patients with autoimmune thyroiditis(AIT).Methods By referring to the relevant literature on the distribution of TCM syndromes of AIT and infertility in women of childbearing age,the TCM Syndromes Survey of Infertility Patients with Autoimmune Thyroiditis was formulated.256 cases of infertility patients with AIT who underwent in vitro fertilization-embryo transfer(IVF-ET)at the Reproductive Center of The First Affiliated Hospital of University of Science and Technology of China from June 2019 to December 2020 were retrospectively analyzed.The data of basic information,TCM syndromes,basic thyroid-stimulating hormone(TSH),thyroid peroxidase antibody(TPO-Ab)and thyroglobulin antibody(TG-Ab)were collected.By means of frequency analysis and systematic cluster analysis,the distribution regularity of TCM syndromes in infertility patients with AIT were concluded.Results After analysis,the following 5 common syndrome elements were obtained,namely,qi deficiency,liver depression,spleen deficiency,kidney deficiency and blood stasis.In addition,it was concluded that this disease was more common in complex syndromes.Through systematic clustering analysis,main TCM syndromes of this disease were obtained,which were qi deficiency and liver depression syndrome(69 cases,26.9%),spleen and kidney deficiency syndrome(45 cases,17.6%),spleen qi deficiency syndrome(38 cases,14.8%),qi deficiency and blood stasis syndrome(36 cases,14.1%),kidney deficiency and liver depression syndrome(32 cases,12.5%)and other syndrome types(36 cases,14.1%).The basic TSH level was higher in patients with qi deficiency and liver depression syndrome,spleen qi deficiency syndrome,qi deficiency and blood stasis syndrome than other syndrome types,with statistical significance(P<0.05).There was no significant difference in TPO-Ab and TG-Ab titers among different syndromes(P>0.05).Conclusion TCM syndromes of infertility patients with AIT can be clustered into qi deficiency and liver depression syndrome,spleen and kidney deficiency syndrome,spleen qi deficiency syndrome,qi deficiency and blood stasis syndrome,kidney deficiency and liver depression syndrome and other syndrome.The main element of syndrome is qi deficiency,and the pathological sites involved spleen,kidney and liver.Stasis blood is a main pathological product.It is required to pay close attention to the thyroid function in AIT patients with qi deficiency.

Splanchnic nerve neurolysis via the transdiscal approach under fluoroscopic guidance: a retrospective study

Background@#Neurolytic celiac plexus block (NCPB) is a typical treatment for severe epigastric cancer pain, but the therapeutic effect is often affected by the variation of local anatomical structures induced by the tumor. Greater and lesser splanchnic nerve neurolysis (SNN) had similar effects to the NCPB, and was recently performed with a paravertebral approach under the image guidance, or with the transdiscal approach under the guidance of computed tomography. This study observed the feasibility and safety of SNN via a transdiscal approach under fluoroscopic guidance. @*Methods@#The follow-up records of 34 patients with epigastric cancer pain who underwent the splanchnic nerve block via the T11-12 transdiscal approach under fluoroscopic guidance were investigated retrospectively. The numerical rating scale (NRS), the patient satisfaction scale (PSS) and quality of life (QOL) of the patient, the dose of morphine consumed, and the occurrence and severity of adverse events were recorded preoperatively and 1 day, 1 week, 1 month, and 2 months after surgery. @*Results@#Compared with the preoperative scores, the NRS scores and daily morphine consumption decreased and the QOL and PSS scores increased at each postoperative time point (P < 0.001). No patients experienced serious complications. @*Conclusions@#SNN via the transdiscal approach under flouroscopic guidance was an effective, safe, and easy operation for epigastric cancer pain, with fewer complications.

Process in menstrual blood-derived mesenchymal stem cells for treatment of central nervous system diseases / 生物工程学报

Stem cell research has become a frontier in the field of life sciences, and provides an ideal model for exploring developmental biology problems such as embryogenesis, histiocytosis, and gene expression regulation, as well as opens up new doors for clinical tissue defective and inheritance diseases. Among them, menstrual blood-derived stem cells (MenSCs) are characterized by wide source, multi-directional differentiation potential, low immune rejection characteristics. Thus, MenSCs can achieve individual treatment and have the most advantage of the clinical application. The central nervous system, including brain and spinal cord, is susceptible to injury. And lethality and morbidity of them tops the list of all types of trauma. Compared to peripheral nervous system, recovery of central nervous system after damage remains extremely hard. However, the treatment of stem cells, especially MenSCs, is expected to solve this problem. Therefore, biological characteristics of MenSCs and their treatment in the respect of central nervous system diseases have been reviewed at home and abroad in recent years, so as to provide reference for the treatment of central nervous system diseases.

Low power consumption structure design of an incus-stimulating middle ear implant based on piezoelectric stack / 医用生物力学

Objective To improve the design plan and get a piezoelectric actuator with displacement magnification structure,so as to reduce power consumption of the existing incus-stimulating piezoelectric actuator for middle ear implant.Methods Based on anatomical structure of human ear,the piezoelectric actuator with displacement magnification structure,and the one only composed of piezoelectric stack were designed,respectively,then the corresponding coupled mechanical models of the middle ear with the piezoelectric actuator were established.By comparing the calculation results from the two types of coupled mechanical models,the hearing compensation property and power consumption of the actuator before and after the implantation with the displacement magnification structure were analyzed.Results After adding the displacement magnification structure,the sound pressure level (SPL) at 1 kHz frequency was increased from 100 dB to 113 dB when the piezoelectric actuator was stimulated by 10.5 V effective voltages.In addition,for the piezoelectric stack,its power consumption at the frequency of 1,2 and 4 kHz were 6.42,1.56 and 0.28 mW,respectively;after introducing the displacement magnification structure,the power consumption at the above-mentioned 3 frequencies decreased to 0.39,0.09 and 0.01 mW,respectively.Conclusions Piezoelectric actuator with displacement magnification structure in this study can improve hearing compensation ability of the incus-stimulating middle ear implant,and effectively reduce the power consumption.The research findings will help to further improve the structure design of middle ear implant,thus achieving better hearing compensation effect.

Magnetic resonance imaging evaluation of hysteromyoma before and after uterine artery embolization / 肿瘤研究与临床

Objective To explore the significance of signal and volume change from magnetic resonance imaging (MRI) of hysteromyoma before and after uterine artery embolization (UAE) in the therapy evaluation. Methods MRI was performed in 30 patients (50 hysteromyoma) before and 3,6 and 12 months after UAE. They were grouped by location, signal and size. The MRI signal changes and the hysteromyoma's volume reduction ratio were measured. Results After 3,6,12 months, MRI of hysteromyoma was changed significantly, and all hysteromyomas had lower T2WI signals than before, some of which had higher T1WI signals. Hysteromyoma's volumes were progressively reduced, the majority of which shrinked significantly within 3 months. Evaluated by 12 month's volume changes, significant volume reduction was found in submucous fibroids, and significant difference was showed compared with intramural fibroids and subserosal fibroids (88.9 % vs. 73.7 % and 68.3 %, P=0.036, P=0.019), meanwhile,the latter two had no significant difference (P=0.384). The volume reduction rate in rich cell fibroids was higher than those in ordinary no degeneration fibroids and degeneration type, and there were significant differences (85.7 % vs. 72.1 % and 63.4%, P=0.038, P=0.014). Besides, the latter two had no significant difference (P=0.364). Large fibroids shrinked more obviously than small ones with significant difference (75.2 % vs. 59.6 %, χ2=4.563, P=0.044). Conclusion MRI is useful for the evaluation of efficacy in hysteromyoma before and after UAE, which can provide the better interventional treatment for the patients in regard to different sensitivity of hysteromyoma to UAE.

Value of multi-slice belical CT in diagnosis of basicranial fracture / 中国医师进修杂志

Objective To investigate the value of application of multi-slice helical CT(MSCT) indiagnosis of basicranial fracture. Methods Sixty-two patients with basicranial fracture were scanned withthin-section scanning mode after conventional CT scanning The images were transferred to the work-station for reconstruction including multiplanar reconstruction (MPR), volume rendering (VR). Comparison between thin-section scanning images and conventional CT scanning images were performed. Results Compared with the conventional CT scanning (67.9% and 45.0% respectively),the rates of fracture displayed of images acquired from thin-section scanning in diagnosis of fractures of anterior and middle cranial fossa (100.0% and 95.0% respectively) ,P＜0.01. The two scanning mode in diagnosis of fractures of posterior cranial fossa( 88.9% and 100.0% respectively )differed from each other unstatistically(P＞0.05 ). ConclusionThe thin-section scanning of MSCT can improve the diagnostic correctness of basicranial fracture.