Objective To probe into the clinical features and pathological change of GM 2 gangliosidosis. Methods The clinical manifestations of 2 patients with late onset GM 2 gangliosidosis were reported, a biopsy of the right frontal lobe was performed for each case.Results The clinical manifestations of the late onset GM 2 gangliosidosis were nonspecific, the ballooned neurons with cytoplasmic deposits were found under the light microscopy.The deposits were membranous cytoplasmic bodies(MCB) together with zebra bodies.Conclusion The result suggested that light microscopy with electron microscopy in taking brain biopsy was very important for the diagnosis of GM 2 gangliosidosis.

Objective To measure the range of routine blood counts and blood biochemical parameters ,to analyze hemorheology of the rats with congenital cataract .Methods Blood samples were taken from 90 rats with congenital cataract weight about 185 ~211 g.Routine blood analysis was performed and blood biochemical and hemorheology paramenters were determind using an automatic blood biochemical and hemorheology analyzer .Results There were no significant difference ( P >0.05 ) between the cataract rats and the normal rats in Blood test results; but there were significant difference between the microphthalmos cataract rats and the normal same -sex rats ( P <0.01 or P <0.05 ) . The biochemical results is the cataract rats and the normal rats were different significantly in ALB group ( P <0.01 or P<0.05), and the female microphthalmos cataract rats compared with the control rats had significant difference in Ure (P<0.01) , the female cataract rats ompared with the normal rats were very significant difference in Cr group ( P <0.05 or P <0.01).The erythrocyte counts of the male cataract rats and male microphthalmos cataract rats were significantly lower than that in the female ones, respectively(P <0.05, P <0.01).The platelet counts of the male cataract rats and the male microphthalmos cataract rats were significantly higher than that in the female ones , respectively(P <0.01), and the creatinine of the male cataract rats and the male microphthalmos cataract rats were significantly lower then that in the female ones, respectively(P <0.01).There were no significant difference in every group on hemorheology .Conclusions There were significant differences in some blood indexes between the congenital cataract rats and the normal rats .These data may become useful reference for biomedical researcher in this field .

Objective To study the effects of toys for laboratory animals on reproductive performance and growing development of experimental mice.Methods ICR mice were fed with toys, the informations of reproductive performance and growing development were recorded.Results All the data of reproductive performance of the test group were higher than the control group except the number of newborn mice, and showed significant difference ( P <0.05 ) .The data of growing development of the test group were higher than the control group too, but showed no significant difference ( P >0.05).Conclusion Toys for laboratory animals have good effects on reproductive performance and growing development of mice, and suggested to be used into the process of experimental mice raising.

Objective To study the extracranial scalp electroencephalography ( EEG ) and intracranial electrocorticography (ECoG) of closed colony New Zealand white rabbits .Methods To record the extracranial scalp EEG and intracranial ECoG of closed colony New Zealand white rabbits , and to compare and analyze the results of those two scanning methods .Results EEG was characteristic of 9-12 c/sαwave and 16-20 c/sβwave with an amplitude of 30-100μV as the basic rhythm .ECoG showed 10-12 c/s αwave and 16-20 c/s βwave with an amplitude of 200-300 μV as the basic rhythm.Anesthesia could attenuate the electrocerebral activity , cause brain tissue hypoxia , and induce δ wave and slow θ wave in ECoG .Conclusions EEG method is a simple , non-invasive and convenient operation , and can be made in rabbits without anesthesia .The recorded EEG waveform is highly consistent with that of ECoG , and may be used as an alternative to the traditional ECoG in neurofunctional studies .

Objective:To explore the clinical features and pathogenic causes of a Chinese Han family with Wagner syndrome, and to analyze the relationship between VCAN gene mutation and patient phenotype. Methods:The method of family pedigree investigation was adopted.A Chinese Han family with Wagner syndrome in 3 generations including 13 family members was collected in Xiamen Eye Center of Xiamen University in January 2020, and 5 patients from 3 generations were diagnosed.All members underwent a comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, intraocular pressure, slit lamp microscopy, and ophthalmoscopy to analyze the condition of anterior segment and fundus.Anterior segment photography, fundus photography, optical coherence tomography and ultrasound biological microscopy were carried out in the proband and some patients to analyze the condition of anterior segment, fundus and anterior chamber angle.The peripheral venous blood of all family members was collected for genomic DNA extraction, and pathogenic gene variation analysis for verification was through high-throughput target region capture sequencing and Sanger sequencing.Variants were scored using the American College of Medical Genetics and Genomics (ACMG) guidelines, and the structure and function of variants were predicted through PredictProtein.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.MR-35-22-002800).Written informed consent was obtained from each subject.Results:The Chinese pedigree with Wagner syndrome was in accordance with autosomal dominant inheritance pattern, and all patients had no history of systemic disease or other abnormal manifestations.The common ophthalmic features of the patients were abnormal suspensory ligament, premature cataract, vitreous cavity, vitreous condensation, veil-like proliferative membrane in the vitreous cavity, retinal choroid atrophy and thinning, tractional retinal detachment, and retinal pigmentation.The proband had binocular cataract surgery, and binocular intraocular lens dislocation occurred after the operation.Genetic analysis revealed that a heterozygous splice site variation c.9265+ 1G>A in the VCAN gene in this family was co-segregated with the disease phenotype and graded as a likely pathogenic variant by the ACMG guidelines.This variant base pair substitution could cause the formation of a protein product with 1 754 amino acids shorter, resulting in insufficient haploid dosage and severe reduction of glycosaminoglycan attachment sites, making the versican protein dysfunctional. Conclusions:It is the first time to report a Chinese family with Wagner syndrome in China, and it is confirmed that the family has a heterozygous variation in the VCAN gene c.9265+ 1G>A by molecular genetic analysis.

OBJECTIVE: To investigate the effectiveness of arthroscopic autologous iliac bone grafting with double-row elastic fixation in treatment of recurrent anterior shoulder dislocation combined with massive glenoid bone defects. METHODS: Between January 2018 and December 2021, 16 male patients with recurrent anterior shoulder dislocation combined with massive glenoid bone defects were treated with arthroscopic autogenous iliac bone grafting and double-row elastic fixation. The patients were 14-29 years old at the time of the first dislocation, with an average age of 18.4 years. The causes of the first dislocation included falling injury in 5 cases and sports injury in 11 cases. The shoulders dislocated 4-15 times, with an average of 8.3 times. The patients were 17-37 years old at the time of admission, with an average age of 25.1 years. There were 5 left shoulders and 11 right shoulders. The preoperative instability severity index (ISIS) score of the shoulder joint was 5.8±2.1, and the Beighton score was 4.3±2.6. The University of California Los Angeles (UCLA) score, Constant score, American Shoulder and Elbow Surgeons (ASES) score, and Rowe score were used to evaluate shoulder function, and the degree of the glenoid bone defect repair was observed based on CT after operation. RESULTS: All incisions healed by first intention, and no complication such as incision infection or neurovascular injury occurred. The patients were followed up 12 months. At 12 months after operation, UCLA score, Constant score, ASES score, and Rowe score all significantly improved when compared with the scores before operation ( P<0.05). CT imaging showed the degree of glenoid bone defect was significantly smaller at immediate, 6 and 12 months after operation when compared with that before operation ( P<0.05), and the bone blocks healed with the scapula, and bone fusion had occurred at 12 months. CONCLUSION Arthroscopic autologous iliac bone grafting with double-row elastic fixation is a safe treatment for recurrent anterior shoulder dislocation combined with massive glenoid bone defects, with good short-term effectiveness.
Humans ; Male ; Adolescent ; Adult ; Young Adult ; Shoulder Dislocation/surgery* ; Bone Transplantation/methods* ; Arthroscopy/methods* ; Joint Instability/surgery* ; Shoulder Joint/surgery* ; Scapula/surgery* ; Recurrence

A young female patient presented with fever, arthralgia, and rash was diagnosed with adults still's disease. When treated with glucocorticoid steroid, the above patient progressed to anuria, sudden, and confusion. After a teamwork involving different departments, the patient was finally diagnosed with atypical hemolytic uremic syndrome (aHUS) and treated with good outcome. aHUS is a rare disease, while Eculizumab is an orphan drug. The diagnosis and treatment of the patient reveals the importance of multidisciplinary team on the diagnosis and treatment of rare and difficult diseases.