Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis / 亚洲男科学杂志(英文版)

Congenital bilateral absence of the vas deferens (CBAVD) is observed in 1%-2% of males presenting with infertility and is clearly associated with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. CFTR is one of the most well-known genes related to male fertility. The frequency of CFTR mutations or impaired CFTR expression is increased in men with nonobstructive azoospermia (NOA). CFTR mutations are highly polymorphic and have established ethnic specificity. Compared with F508Del in Caucasians, the p.G970D mutation is reported to be the most frequent CFTR mutation in Chinese patients with cystic fibrosis. However, whether p.G970D participates in male infertility remains unknown. Herein, a loss-of-function CFTR p.G970D missense mutation was identified in a patient with CBAVD and NOA. Subsequent retrospective analysis of 122 Chinese patients with CBAVD showed that the mutation is a common pathogenic mutation (4.1%, 5/122), excluding polymorphic sites. Furthermore, we generated model cell lines derived from mouse testes harboring the homozygous Cftr p.G965D mutation equivalent to the CFTR variant in patients. The Cftr p.G965D mutation may be lethal in spermatogonial stem cells and spermatogonia and affect the proliferation of spermatocytes and Sertoli cells. In spermatocyte GC-2(spd)ts (GC2) Cftr p.G965D cells, RNA splicing variants were detected and CFTR expression decreased, which may contribute to the phenotypes associated with impaired spermatogenesis. Thus, this study indicated that the CFTR p.G970D missense mutation might be a pathogenic mutation for CBAVD in Chinese males and associated with impaired spermatogenesis by affecting the proliferation of germ cells.

Identification and analysis of terpene synthase (TPS) gene family in Schizonepeta tenuifolia / 中国中药杂志

Terpenoids are important secondary metabolites of plants that possess both pharmacological activity and economic value. Terpene synthases(TPSs) are key enzymes in the synthesis process of terpenoids. In order to investigate the TPS gene family members and their potential functions in Schizonepeta tenuifolia, this study conducted a systematic analysis of the TPS gene family of S. tenuifolia based on the whole genome data of S. tenuifolia using bioinformatics methods. The results revealed 57 StTPS members identified from the genome database of S. tenuifolia. The StTPS family members encoded 285-819 amino acids, with protein molecular weights ranging from 32.75 to 94.11 kDa, all of which were hydrophilic proteins. The StTPS family members were mainly distributed in the cytoplasm and chloroplasts, exhibiting a random and uneven physical localization pattern. Phylogenetic analysis showed that the StTPS genes family were divided into six subgroups, mainly belonging to the TPS-a and TPS-b subfamilies. Promoter analysis predicted that the TPS gene family members could respond to various stressors such as light, abscisic acid, and methyl jasmonate(MeJA). Transcriptome data analysis revealed that most of the TPS genes were expressed in the roots of S. tenuifolia, and qRT-PCR analysis was conducted on genes with high expression in leaves and low expression in roots. Through the analysis of the TPS gene family of S. tenuifolia, this study identified StTPS5, StTPS18, StTPS32, and StTPS45 as potential genes involved in sesquiterpene synthesis of S. tenuifolia. StTPS45 was cloned for the construction of an prokaryotic expression vector, providing a reference for further investigation of the function and role of the TPS gene family in sesquiterpene synthesis.

Pathological changes in retinal tissue in diabetic rats treated with PEDF gene-modified umbilical cord mesenchymal stem cells / 眼科新进展

Objective To investigate the protective effects of intravitreal injection of pigment epithelial-derived factor (PEDF) gene-modified human umbilical cord mesenchymal stem cells (PEDF-MSCs) on the pathological changes in retinal tissue of diabetic rats.Methods hUCMSCs were isolated from human umbilical cord tissue using tissue culture methods,and transfected with lentiviral vectors at a infection multiplicity of 50.Then diabetic model in rats was successfully induced by intraperitoneal injection of streptozotocin.And the rats were divided into normal control (N),PBS treatment (D1),hUCMSCs treatment (D2) and PEDF-MSC treatment (D3) group according to different treatment methods.Three months after modeling,treatment began in D1,D2 and D3 group,but N group left untreated.Two weeks after treatment,the expression of PEDF-MSCs in the eye of rats was detected by fluorescence microscopy,and HE staining was performed to observe the changes in retinal structure and the full-thickness of the retina in each group.Results The expression of CD105,CD73,CD90 was observed,while the expression of CD34,CD45,CD11b,CD19 and HLA-DR did not present.After 2 weeks of treatment,it was in the vitreous cavity not the retina that clusters of red fluorescence appeared in D2 group with fluorescence microscope.There were clusters of green fluorescence in the vitreous cavity not in the retina of D3 group.HE staining showed that the retina had intact structure and clear layers as well as neatly arranged and stained evenly cells in N group.In D1 group,the nerve fibers layer (NFL) showed obvious edema,the blood vessels were dilated,the inner plexiform layer (IPL) were loose and the inner nuclear layer (INL) cells were disordered.In D2 group,the edema of NFL relieved.In D3 group,NFL edema was significantly alleviated,and the cells of INL and outer nuclear layer (ONL) arranged in regular.Full-thickness of retina was (103.82 ±4.15) μm in N group,(138.86 ±4.71) μm in D1 group,(131.17 ±3.89) μm in D2 group,and (112.24 ±4.22) μm in D3 group,respectively,and the differences were statistically significant (all P ＜ 0.05).Conclusion PEDF-MSCs can survive and continue to express in the vitreous cavity of diabetic rats for a long time.Meanwhile,intravitreal injection of PEDF-MSCs can ameliorate retinal edema and the retinal injury in diabetic rats.

Clinical Study on Intradermal Needle plus Acupoint Application in Preventing Constipation after Acute Craniocerebral Injury / 上海针灸杂志

Objective To observe the clinical efficacy of intradermal needle plus acupoint application with Da Huang (Radix et Rhizoma Rhei) in preventing constipation after craniocerebral injury. Method Two hundred patients with acute craniocerebral injury were randomized into a treatment group and a control group, 100 cases each. The control group received conventional nursing care to prevent constipation, while the treatment group was additionally treated with intradermal needle plus acupoint application with Da Huang (Radix et Rhizoma Rhei). The occurrence of constipation within a week was observed in the two groups. Result The occurrence rate of constipation was 12.0％ in the treatment group versus 32.0％ in the control group, and the between-group difference was statistically significant (P<0.05). Conclusion Intradermal needle plus acupoint application can effectively reduce the frequency of constipation in patients with acute craniocerebral injury.

Nursing care of 23 patients with acromegaly and diabetes mellitus treated by pituitary tumor resection / 中华护理杂志

This paper summarized the perioperative nursing of 23 patients with acromegaly and diabetes mellitus underwent pituitary adenoma resection via nasal transsphenoidal approach.The key points in nursing were:preoperative respiratory monitoring during sleep,psychological care,blood glucose monitoring,respiratory fitness training;postoperative individualized glycemic management,close observation of breathing and nasal congestion,differentiating diabetes insipidus and cerebral salt-wasting syndrome,close monitoring of traits of nasal exudate,to assist patients to get through the perioperative period.As a result of careful treatment and nursing,23 patients were recovered and discharged.

Diagnosis and treatment of pituitary abscess / 中国医师进修杂志

Objective To investigate the clinical features and treatments of pituitary abscess.Method The clinical data of 6 patients with pituitary abscess were examed along with a review of the literature.Results Of 6 patients,headache was presented in 5 patients,hypopituitarism in 4 patients,visual disturbance and/or bitemporal hemianopsia in 4 patients and fever in 1 patient.MRI and CT images showed a cystic sellar lesion with ring enhancement in 5 patients.Preoperative diagnosis of pituitary abscess was made in 2 patients,pituitary adenomas in 3 patients and craniopharyngiomas in 1 patient.All cases were treated surgically by transsphenoidal approach in 5 patients and transscranial in 1 patient.Followed with postoperative antibiotics therapy for 3 weeks,the symptoms were improved postoperatively in all cases.Followed up 8 months to 10 years,1 patient who underwent craniotomy recurred and wag cured by via transsphenoidal surgery.Conclusions The pituitary abscess is easily misdiagnosed.The cystic pituitary lesion should be considered the possibility of pituitary abscess.Transsphenoidal surgery and proper perioperative antibiotics therapy are the keys to the treatment of pituitary abscess.

Gene Expression Analysis of a Late Embryogenesis Abundant Gene from Salvia miltiorrhiza Bunge / 中国生物工程杂志

According to the sequence of SmLEA gene,a DNA fragment of 1 038 bp upstream of the coding sequence of SmLEA gene was amplified by DNA walking with the genomic DNA of Salvia miltiorrhiz as the template.Sequence analysis showed that the fragment contained some putative cis-elements relating to abiotic stress,ABA,seed specific expression.So the S.miltiorrhiz seedings was treated with 100?mol/L ABA,200mmol/L NaCl,4℃,and subjected to dehydration.The real-time PCR showed that expression levels of SmLEA was increased obviously,which was in accordance with the sequence analysis.