X-linked retinoschisis (XLRS) is a rare X-linked inherited retinal disorder, caused by mutations in retinoschisin 1 (RS1) gene. Three XLRS mice were established, providing ideal systems to study the mechanism and treatment methods for XLRS. RS1 gene mutations can induce abnormal secretion or adhesion function of RS1 protein. In the past year, phase I clinical trials for XLRS has begun in USA, using adeno associated virus (AAV, AAV8 or AAV2)-mediated gene delivery. With the rapid development of new generation of AAV vector that can transduce more retinal cells through intravitreous delivery, gene therapy for XLRS will have a brighter future.
Waldenström’s macroglobulinemia (WM)/lymphoplasmacytic lymphoma (LPL) is a rare mature B-cell neoplasm. WM is characterized by the presence of a lymphoplasmacytic infiltrate in the bone marrow and high serum levels of monoclonal immunoglobulin M protein. With a deeper understanding of molecular mechanisms of the disease, the update of diagnostic approaches and the introduction of novel therapies, the management of WM/LPL has rapidly evolved over the past few years. On March 7th, 2018, National Comprehensive Cancer Network (NCCN) updated the guideline for WM/LPL. This study mainly interpreted the corresponding diagnosis and treatment of WM/LPL in NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®): Waldenström’s Macroglobulinemia/Lymphoplasmacytic Lymphoma (Version 1.2018).
Objective To review retinitis pigmentosa (RP)-related gene researches in China. Methods RP genes and RP gene therapy as key words were searched from those online databases including China Knowledge Resource Integrated Database of China National Knowledge Infrastructure (CNKI), National Center for Biotechnology Information (NCBI), Human Gene Mutation Database (HGMD), and Human Genome Variation Society (HGVS). Related papers written by authors from China or other countries, published from 1991 to 2011 were collected for analysis. Results Overall 60 RP related genes have been identified now. Chinese researchers from 29 hospitals and research institutes confirmed 17 RP-related gene changes (239 mutations, 131 of them are pathogenic) in 300 RP families and 1572 sporadic RP patients from 1991 to 2011, as reported in 66 papers. Mutations in rhodopsin (RHO) gene, NR2E3 gene and RP1 gene were found in 2.0%, 2.9% and 1.0% of Chinese RP patients respectively. The relationship between genotypes and clinical phenotypes were investigated in 15 papers, including RHO gene, RDS gene, RP1 and RPGR or RP3 gene in ADRP families. Gene therapy for RP has been investigated in 4 papers. Seven hundred and eighteen papers about RP genemutation screening have been published from other countries, and more than 2000 variants were identified which including 352 disease-causing mutations. Mutations of RHO gene, RDS and RP1 were found in 25%-50%, 8% and 5% -10% of ADRP patients in Caucasian populations. RPGR mutations were found in 70%-80% of XLRP patients in Caucasian populations, and 50% -60% of mutations are identified in open reading frame (ORF) 15. Totally 391 papers about gene therapy for RP have been published. Conclusions Seventeen RP-related genes have been studied and 131 pathogenic mutations were found in China. Considering Chinese population, our RP research is still behind other countries.
Abstract： Marfan syndrome （MFS） is a congenital and heritable autosomal dominant disorder of the connective tissue which is often passed down through families. Its clinical presentation typically involves the skeletal， cardiovascular and ocular systems with a high natural mortality. Aortic root aneurysm and consecutive acute aortic dissection represent the main cardiovascular manifestations and main causes of morbidity and mortality in MFS. At present， the predominant therapeutic method is surgery， but surgical outcomes are quite unsatisfactory. Recent studies demonstrate that losartan， a common antihypertensive agent， is useful to treat MFS， the mechanism of which may results from inhibiting overactivation of transforming growth factor β （TGF-β） signaling. This discovery will definitely promote the transition of traditional surgical treatment of MFS into pharmacotherapy. In this review， we focus on the molecular biological pathogenesis， traditional and new therapeutic strategies for MFS patients.
Since November 1974 to December 1993, 110 cases with malignant tumors of the extremities were treated by en bloc resection and limb salvage procedure in our hopsital. There were 57 males and 53 females. Their ages ranged from 14 to 70 years. The diagnosis of all patients were confirmed by pathology. Among them, 68 cases were malignant bone tumor, 42 cases were malignant tumor of soft tissue. If the soft tissue was involved by the malignant tumors, the tumor was resected radically and myocutaneous or skin flap was transferred to covered the defect. Among the 42 cases, 5 were free vascularized and 37 were pediculated flaps. The maximal size of the flap was 15×25 cm and the minimal was 6×8 cm. For the malignant bone tumors, en bloc resection was performed and the bone defect was reconstructed with autogenous free vascularized fibular graft, autograft of massive bone with fusion or allograft of cryogenic massive bone. If the joint was involved, limited excision with replacement of prosthesis was recommended. When both soft tissue and bone were involved, segmental resection of tumor was indicated in 17 cases. The patients were followed up for 2 to 9 years, the results of 53 cases were still alive with a survival rate of 48.2%. We emphasized that the local extensive resection should be performed with a safety margin of 3 to 5 cm beyond the tumor. A djuvant chemotheapy and radiotherapy had definite value in the treatment of some malignant tumors, so that preoperative or postoperative chemotherapy or radiotherapy was necessary. Sometimes radical resection of regional lymph rodes was necessary. The indications and causes of recurrence were discussed.
Objective To study the advances in research of breast cancer during pregnancy. Methods The literatures in recent years were reviewed. Results A lot of evidences suggested that the diagnosis may be delayed easily. The diagnosis was primarily made by needle aspiration cytology and biopsy. The treatment of pregnant breast cancer was not different from ordinary breast cancer, however the factor of foetus should be taken into account. Termination of pregnancy did not improve survival. Conclusion Pregnant breast cancer is mostly at later stage at the time of diagnosis and has poorer prognosis than ordinary breast cancer. The patients with breast cancer during pregnancy usually have an equivalent survival rate when compared with age and stagematched ordinary group. Future pregnancy may be allowed after two years of treatment in patients with early breast cancer.
Age-related macular degeneration (AMD) is an age-related neurodegenerative eye disease characterized by degeneration and progressive death of retinal pigment epithelium (RPE) and photoreceptor cells. In recent years, as a new treatment for AMD, stem cell therapy has attracted wide attention in the field of AMD, and has become a current research hotspot. Although stem cell therapy carries risks such as increased incidence of cancer and immune rejection, it significantly promotes damaged photoreceptor cells and retinal cells by differentiating into RPE cells and other retinal cell types, as well as secreting neurotrophic factors and extracellular vesicles. In particular, the development of embryonic stem cell-derived RPE cells, its cryopreservation technology and the advancement of plasmid, adeno-associated virus, Sendai virus and other delivery technologies have laid a solid foundation for stem cell therapy of AMD. As a new method to prevent retinal damage and photoreceptor degeneration, stem cell neuroprotective therapy has shown great potential, and with the continuous maturity and improvement of these technologies, stem cell therapy is expected to provide new ideas for the prevention and treatment of AMD in the future.
Objective To sum up experiences in diagnosis and treatment for thyroid malignancy. Methods Clinical records of 8 patients diagnosed as Hashimoto’s disease associated with thyroid malignancy by histologic examination at our hospital from Jan. 1998 to Dec. 1998 were analyzed. Results There were 1 male and 7 females with average age of 37.6 years. The incidence of Hashimoto’s disease associated with thyroid cancer and malignant lymphoma were 7.7% and 2.6%, respectively. No operative mortality and complication was found. Conclusion Hashimoto’s disease is not uncommon. The combined thyroid cancer is small with papillary carcinoma predominance and the prognosis is good. If it is complicated with malignant lymphoma, the thyroid is rapidly enlarged with pain and dyspnea.
Objective To explore the clinical characteristics of patients with severe pandemic H1N1 Influenza in Sichuan and risk factors related to patients’ prognosis. Methods We observed 135 severe patients who came to hospitals for pandemic H1N1 Influenza from 12 cities in Sichuan, China,between September 12, 2009 to December 14, 2009, and described their baseline characteristics, treatment,and outcomes. A stepwise multiple Logistic-regression analysis was used to evaluate the independentpredictors of death. Results Of the 135 patients we studied, 86 patients were male. The average age was ( 28. 2 ±19. 3) years old, while patients between 19 to 45 years of age accounted for 47. 4% . 96 patients ( 71. 1% ) presented with fever. 51 patients( 37. 8% ) had comorbid conditions. The most frequent organdysfunction was seen in lung ( 71. 1% ) , liver( 27. 4% ) and cardia( 24. 4%) ; 130 patients( 96. 3% ) had received oseltamivir, 26 patients ( 19. 3% ) required mechanical ventilation. 12 of the 135 patients died.Compared with the survivors, patients who died were more likely to have a higher age, lower average bloodpressure when admitted, more organ dysfunction, and more likely to have cardia or nervous system dysfunction. The nonsurvivors also seemed to have less opportunity to be exposed to neuraminidase inhibitors, and have more demand for mechanical ventilation. The P value were all under 0. 05. The multipleLogistic-regression analysis showed the independent predictors of death were the average blood pressure when admitted and the demand for mechanical ventilation . The P value were both under 0. 05. The OR value was 0. 86(95% CI 0. 002-0. 936) and 13. 86( 95% CI 1. 146-16. 583) , respectively. Conclusions For these severe patients with pandemic H1N1 Influenza we study, the male patients are more than female. Most patients are between 19 to 45 years of age. The most frequent organ dysfunction is seen in lung, liver and cardia. The mortality of these patients is 8. 9% . Compared with the survivors, patients who died were morelikely to have a higher age, lower average blood pressure when admitted, more organ dysfunction, and more likely to have cardia ornervous systemdysfunction. The nonsurvivors also seemed to have less opportunity to be exposed to neuraminidase inhibitors, and more demand for mechanical ventilation. The multiple Logisticregression analysis showed the independent predictors of death are the average blood pressure and the demand for mechanical ventilation. The OR value is 0. 86 ( 95% CI 0. 002-0. 936) and 13. 86 ( 95% CI1. 146-16. 583) respectively.
Objective To investigate clinical application and safety evaluation of sedative demulcent anesthesia in therapeutic endoscopic retrograde cholangiopancreatography (ERCP).Methods Totally 1660 patients underwent ERCP at the First Hospital of Lanzhou University were prospectively divided into two groups: venous sedative demulcent group (n=800, using sufentanil and midazolam and propofol continuing infusion) and conventional sedative demulcent group (n=860, using common medicine). The heart rate (HR), respiration (R), blood pressure (BP) and peripheral oxygen saturation (SpO2) of pre-anesthesia, post-anesthesia, during operation and after analepsia in every group were detected. The narcotism was evaluated by Ramsaymin grading method and the related adverse reactions such as cough, restlessness, harmful memory, and abdominal pain after operation were recorded. Results Compared with conventional sedative demulcent group, vital signs of patients in venous sedative demulcent group were more stable. For postoperative adverse reactions, abdominal pain, abdominal distension and nausea and vomiting were respectively 4.4%(35/800), 2.6%(21/800) and 3.6%(29/800) in venous sedative demulcent group, which were respectively higher of the incidence of 36.3%(312/860), 49.0%(421/860) and 53.0%(456/860) in conventional sedative demulcent group (P＜0.01). The postoperative satisfaction and adverse reactions recall between venous sedative demulcent group and conventional sedative demulcent group was respectively significant different (96.9% vs. 2.9%, 4.8% vs. 97.9%, P＜0.01). Conclusion Sufentanil and midazolam and propofol continuing infusion have good effect of sedative demulcent anesthesia, which can be widely used.