Clinical features and gene mutations in a Chinese family with choroideremia / 中华眼底病杂志

Objective To observe the clinical features, phenotypes and genotypes in a Chinese family with choroideremia (CHM). Methods A Chinese four-generation family (15 members) with CHM, including 5 patients (4 males/1 female), 2 female carriers and 8 healthy members, was enrolled in this study. Initially all family members underwent best corrected visual acuity (BCVA), indirect ophthalmoscopy, fundus fluorescein angiography, optical coherence tomography (OCT), visual field and full view electroretinogram (ERG). BCVA was followed up for 3 years. Venous blood samples were collected, and all of the 15 coding exons and flanking intron regions were amplified in the proband by polymerase chain reaction followed by direct sequencing. Protein structure was modeled based on the protein data bank and mutations in DeepView v4.0.1 to predict the effect of the mutations. A total of 180 healthy volunteers were enrolled as control group to matching CHM gene sequences. Results The visual acuity (VA) of 3/4 adult male patients began to decrease at less than 10, 10 and 30 years old, the average BCVA was 0.43. There were characteristic signs and symptoms of CHM including narrow visual field, extinguished rod and cone response in ERG, disappeared junction line and intermediate line of photoreceptor inner segment/outer segment on OCT. After 3 years, the mean BCVA decreased to 0.11. The BCVA of one young male patient was 1.0 in both eyes with minor changes fundus and visual field. The VA of the female patient began to decrease at 50 years old, her BCVA of two eyes were 0.5 and 0.25, respectively. The fundus changes were typical of CHM, with relative scotomas in the peripheral visual field of OD, and big scotomas in the OS. After 3 years, her mean BCVA decreased to 0.2. Of 2 female carriers, one had minor fundus changes (patches of pigmentary deposits, atrophy spots of retinal pigment epithelium cells), and the other was normal. A novel heterozygous c.1837G>A mutation in exon 15 of CHM was detected in the proband, which resulted in the substitution of serine by proline at codon 613 (p.D613N). Based on molecular modeling, the misfolded protein caused by the mutation might destabilize the structure of the helix that potentially could affect the global stability of the Rep-1 protein. Conclusions A novel c.1837G>A (p.D613N) mutation may be the causative mutation for CHM in this family. Female CHM carriers may have some signs and symptoms.

Effects of Acetyl-l-carnitine on Autophagy, Apoptosis, and Locomotor Function after Acute Spinal Cord Injury in Rats / 中国康复理论与实践

Objective To observe the effects of acetyl-l-carnitine (ALC) on autophagy, apoptosis and motor function after acute spinal cord injury (ASCI) in rats. Methods Thirty-six adult female Sprague-Dawley rats were randomly divided into sham operation group (Sham group, n=12), simple spinal cord injury group (SCI group, n=12), ALC treatment group (ALC group, n=12). Spinal cord injury model at the level of T10 segment was established using Allen's method. They were assessed with Basso-Beattle-Bresnahan (BBB) scale three days after injury. Then the rats were sacrificed, and the expression of microtubule associated protein 1 light chain 3 (LC3)-II in spinal cord was detect-ed with Western blotting and immunofluorescent labeling, and the number of apoptotic cells were assessed with TUNEL staining. Results The expression of LC3-II and the number of apoptotic cells increased in SCI group compared with those in Sham group (P<0.01), while the BBB score decreased (P<0.001). The expression of LC3-II increased and the number of apoptotic cells decreased in ALC group compared with those in SCI group (P<0.001), while the BBB score increased (P<0.01). Conclusion ALC may promote autophagy, and inhibit apopto-sis to improve the locomotor function after ASCI.

Assembly and components of the type III secretion system of Salmonel l a / 中国人兽共患病学报

Salmonella is the main food-borne pathogen that causes food poisoning and gastroenteritis in human and ani-mals .The type III secretion system in Salmonella has played an important role in the invasion of host cell .In recent years ,the research of the composition ,assembly and related pathogenesis of Salmonella T3SS have made some progress .This article re-views the composition and assembly of Salmonella type III secretion system ,which could provide further study the pathogene-sis of Salmonella and also the new strategies and methods toward the treatment and prevention of Salmonella infections .

The Changes of Hormones in the Model of Splennic Asthenia Complicating Gastric Ulcer / 医学研究杂志

Objective To probe the changes of hormones in the model of splennic asthenia complicating gastric ulcer, and reveal the relation between thyroid gland and splennic asthenia gastric ulcer. Methods Building model of splennic asthenia complicating gastric ulcer in rats, treatment them in plus sijunzi decoction ,selecting rats with typical gastric ulcer four days after and rats with the ulcer healing basically fourteen days after building models, then the rats were divided into four groups, the model group, the treatment group, spontaneous recovery group and the control group. With immunohistochemical stain , the OD values of enzymes were analyzed with image analysis, and were analyzed statistically. Results Compare with control gronp ,4 model and 14 modelIn rats the thyrocalcitonin secretion of thyroid parafollicular decreased, Compared with 14 day control indexes in the treatment group recovered, but in the spontaneous recovery group all indexes didn’t change obviously. Conclusions In the model of splennic asthenia complicating gastric ulcer, some injury can occur on thyroid gland ,and this also promote gastric ulcer development. plus sijunzi decoction has some treating action.

THE PARANODAL REGION AND AXO-GLIAL JUNCTION OF MYELINATED FIBERS / 解剖学报

By using electron microscopy, the paranodal region and axo-glial junction were examined in optic nerves of rats aged 14 days. The paranodal region was characterized in longitudinal sections by the sequential termination of the myelin lamellae, beginning proximally with the innermost and ending, at the Ranvier node, with the outermost lamella. The termination of each lamella was accom- panied by a separation of the major dense line of the compact myelin and the consequent formation of a "loop" of glial cytoplasm. Each paranodal loop inde- nted the axonal surface as it became junctionally apposed to the axolemma. The periaxonal extracellular space, 10-20nm in width in the internodal region and reduced at the paranodal junction to approximately 3nm, forming an axo-glial junction, which was thought to be held together by dense structure. The parano- dal junction seems to serve strong adhesion between the apposed axonal and glial membranes. Conduction of the nerve impulses in myelinated axons was saltatory. Axons and sheath cells probably maintain vital communication with one another, presumably at the paranodal junctional complex. This communication was viewed as vital to the stability and maintenance of myelin. We found some clear vesi- cles in axoplasm near the Ranvier node and speculated that there were endocyto- sis and exocytosis in paranodal region. This was a direct morphological evidence supporting metabolic coupling between axons and sheeth cells.