BackgroundRetinitis pigmentosa (RP) has the genetic and phenotype heterogeneity.To determine the disease-causing gene is a foundation of gene therapy.Objective This study was to localize the pathogenic gene and screen the gene mutation associated with Han Nationality autosomal dominant retinitis pigmentosa (ADRP) in a Chinese family.MethodsTwenty-one families enrolled this study,including 12 patients with ADRP and 9 individuals with normal phenotype.Perimetry,fundus examination,electrooculogram ( EOG ) and electroretinogram (ERG) were performed in 12 patients.Genetic linkage analysis was performed on the subjects in all known genetic loci related to ADRP with a panel of microsatellite markers.Subsequently,the mutation screening of rhodopsin gene was screened by direct DNA sequencing.This study was approved by Ethic Committee of Zhongnan Hospital of Wuhan University.Informed consent was obtained from each subject.ResultsThe fundus appearance of the proband was in accordance with the ADRP,and the EOG and ERG showed undetectable.Contractive visual field also was exhibited in the proband.Linkage analysis showed that the maximum logarithm of the odds(LOD) score reached 3.6671 at marker D3S1292 at recombination fraction θ =0.0.The results of direct DNA sequencing revealed a C→ G transversion mutation at codon 53 in exon 1 of rhodopsin gene,which resulted in a proline to arginine change (Pro53Arg) in 12 patients.However,no similar mutation was found in the unaffected members of this family.ConclusionsThe missence mutation Pro53Arg in rhodopsin gene cosegregate with the RP disease.It is determined to be a pathogenic factor of this ADRP family.

AIM: To evaluate the efficacy and complications of intravitreal injection of triamcinolone acetonide ( TA ) for the treatment of macular edema caused by pre-retinal membrane of the macular.
METHODS: Totally 23 patients ( 24 eyes ) with macular edema caused by pre-retinal membrane of the macular were treated withintravitreal injection of 4mg TA. Best-corrected visual acuity ( BCVA ) , intraocular pressure ( IOP ) , slit - lamp examination, fundus fluorescein angiography ( FFA ) and optical coherence tomography (OCT) were performed before and after treatment. The SPSS 12. 0 software was used for statistical analysis.
RESULTS: After 10, 30, 90d of treatment of TA, as compared with before treatment, visual acuity improved significantly ( P<0. 05 ), and central macular thickness (CMT) was significantly thinner (P<0. 01). The average central macular thickness decreased from 522 ± 126μm before treatment to 264±115μm, 245±128μm, 286±131μm at 10, 30, 90d after treatment. Macular edema reduced. IOP increased in 7 eyes ( 29%) , one cataract case, no other complications associated with vitreous injection.
CONCLUSION: Intravitreal injection of TA in the treatment of macular edema caused by pre - retinal membrane of the macular is simple, safe and easy to operate. It can quickly reduce macular edema, and improve the visual acuity in the short term. Part of patients may recur after injection in the first half of the year.

To discuss the protective effect of aralosides (AS) on I/R-induced rat myocardial injury. The adult rat ventricular myocyte ischemia model was established through perfusion with sodium lactate perfusate and reperfusion with Ca(2+) -containing Tyrode's solution simulation. The cell contraction and ion concentration synchronization determination system was applied to detect the effect of AS on single I/R cell contraction and Ca2+ transients. According to the findings, AS could increase resting sarcomere length, contraction amplitude, ± dL/dt(max), calcium transient amplitude and speed of post-reperfusion myocardial cells (P < 0.05, P < 0.01), and decrease in time for achieving 90.0% of maximum relaxation, time for achieving peak value, resting calcium ratio, contraction period [Ca2+] i, time for achieving 50.0% of maximum relaxation and attenuation rate of intracellular calcium transient (P < 0.05, P < 0.01). Therefore, it is suggested that AS improved the post-reperfusion cell contraction and injury of calcium homeostasis.
Animals ; Aralia ; chemistry ; Biological Transport ; drug effects ; Calcium ; metabolism ; Drugs, Chinese Herbal ; administration & dosage ; Humans ; Male ; Muscle Contraction ; drug effects ; Myocardial Ischemia ; drug therapy ; metabolism ; physiopathology ; surgery ; Myocardial Reperfusion ; Myocytes, Cardiac ; drug effects ; physiology ; Rats ; Rats, Sprague-Dawley ; Saponins ; administration & dosage

Adult ; Diagnosis, Differential ; Female ; Humans ; Skin ; pathology ; Skin Neoplasms ; pathology ; Skin Ulcer ; pathology ; Tibia

Objective To elucidate the immunologic mechanism and clinical effect of high intensity focused ultrasound (HIFU) combined with dendritic cell and cytokine induced killer cell (DC-CIK) immunotherapy on patients with pancreatic cancer.Methods Seventy-two pancreatic cancer patients were divided randomly into 2 equal groups,one treated with HIFU only the other treated with HIFU and DC-CIK immunotherapy.Ultrasound imaging and a variety of immunological indexes were recorded before and after treatment and the clinical effects in the two groups were compared.Moreover,autogenous tumor cells were isolated from the combination therapy group and the killing activity of DC-CIK which loaded tumor antigen processed by HIFU on autogenous tumor cells was observed.Results Tumor antigen processed by HIFU can improve the killing activity of DC-CIK on autogenous tumor cells.After treatment,the immunological indexes,of all patients were better than before treatment.(58.26 ± 17.97 versus 52.15 ± 14.22 pg/ml with IL-12 22.14 ± 6.39 versus 17.36 ± 5.73 ng/ml with HSP70 and 0.94 ± O.34 versus 1.32 ± O.61 ng/ml with TGF-β,P ＜ 0.05 ) ; The combination group was significantly better than the HIFU group with regard to the average scores of quality of life (75.89 ± 19.65 versus 67.22 ± 16.34,P＜0.05),pain (3.15 ±0.82 versus 3.59 ± 1.04,P ＜0.05),tumor markers (107.55 ±27.58 versus 123.63 ±34.12 U/ml) and survival time (18.92±6.47 versus 13.36 ±5.78 mos).Conclusion HIFU can improve the immunologic status and anti-tumor response in patients with pancreatic cancer.HIFU combined with DC-CIK has good synergistic therapeutic effect for treating pancreatic cancer.

OBJECTIVETo observe the effect of Polygonatum sibiricum on Yin deficiency model rats induced by long-term overload swimming.

METHODExcept for the normal group, all of the remaining rats performed the long-term overload swimming for eight weeks, with five days every week and once every day, to establish the Yin deficiency model. The daily swimming time increased from 10 min to 180 min at the end of the 7th week, with the water depth of 60 cm and the water temperature at 30 degrees C. After the success of the modeling, the rats were orally administered with different doses of aqueous extracts from P. sibiricum (2.5, 10 g x kg(-1)) for eight weeks. After the final administration, their blood were collected from orbits to measure immunoglobulin A, G and M (IgA, IgG, IgM), interleukin 2 and 6 (IL-2, IL-6) and cAMP, cGMP contents in plasma General behavioral indicators (weight, facial temperature, pain threshold and holding power) of rats were observed during the drug administration.

RESULTCompared with the model control group, aqueous extracts from P. sibiricum was given for eight weeks to significantly increase the rat weight and holding power of Yin deficiency model rats, decrease the facial temperature and the sensitivity of pain threshold, and increase IgA, IgG, IgM and IL-6 content and IgG content in serum, but without statistical difference. Aqueous extracts from P. sibiricum (10 g x kg(-1)) could also increase IL-2 content in serum, and decrease cAMP content and cAMP/cGMP ratio.

CONCLUSIONP. sibiricum could improve the general behavioral indicators (weight, holding power, pain threshold and facial temperature), immunologic functions (IgA, IgG, IgM) and cyclic nucleotide (cAMP, cAMP/cGMP), so as to ameliorate such Yin deficiency symptoms as dysphoria in chestpalms-soles, weight loss, soreness and weakness of waist and knees, immunologic dysfunction and cyclic nucleotide system disorders.

Animals ; Body Weight ; drug effects ; Drugs, Chinese Herbal ; administration & dosage ; Female ; Humans ; Male ; Polygonatum ; chemistry ; Rats ; Rats, Sprague-Dawley ; Swimming ; Yin Deficiency ; drug therapy ; physiopathology

BACKGROUNDAdrenocorticotrophin (ACTH)-secreting pituitary adenomas account for approximately 7% - 14% of all pituitary adenomas, but its pathogenesis is still enigmatic. This study aimed to explore mechanisms underlying the pathogenesis of ACTH-secreting pituitary adenomas.

METHODSWe used fiber-optic beadarray to examine gene expression in three ACTH-secreting adenomas compared with three normal pituitaries. Four differentially expressed genes from the three ACTH-secreting adenomas and three normal pituitaries were chosen randomly for validation by reverse transcriptase-real time quantitative polymerase chain reaction (RT-qPCR). We then analyzed the differentially expressed gene profile with Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway.

RESULTSFiber-optic beadarray analysis showed that the expression of 28 genes and 8 expressed sequence tags (ESTs) were significantly increased and the expression of 412 genes and 31 ESTs were significantly decreased. Bioinformatic and pathway analysis showed that the genes HIGD1B, EPS8, HPGD, DAPK2, and IGFBP3 and the transforming growth factor (TGF)-β signaling pathway and extracellular matrix (ECM)-receptor interaction pathway may play important roles in tumorigenesis and progression of ACTH-secreting pituitary adenomas.

CONCLUSIONSOur data suggest that numerous aberrantly expressed genes and several pathways are involved in the pathogenesis of ACTH-secreting pituitary adenomas. Fiber-optic beadarray combined with pathway analysis of differential gene expression appears to be a valid method of investigating tumour pathogenesis.

ACTH-Secreting Pituitary Adenoma ; etiology ; genetics ; Adenoma ; etiology ; genetics ; Adult ; Disease Progression ; Expressed Sequence Tags ; Extracellular Matrix Proteins ; physiology ; Female ; Fiber Optic Technology ; Gene Expression Profiling ; Humans ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; methods ; Real-Time Polymerase Chain Reaction ; Reverse Transcriptase Polymerase Chain Reaction ; Signal Transduction ; physiology ; Transforming Growth Factor alpha ; physiology

BACKGROUND: Enophthalmos deformity is the most common complication caused by orbital blow-out fractures, and others are diplopia and worsening of visual acuity. Since the therapeutic result of orbital blow-out is not satisfactory and many complications exist after operation, it is still a dispute to select implantation materials and therapeutic regimens.OBJECTIVE: To observe the therapeutic effect and assess the improvement of visual function by surgical reconstruction with porous high-density polyethylene (Medpor) for the correction of enophthalmos deformity caused by orbital blow-out fractures.DESIGN: A pre-and postoperative controlled study.SETTING: Beauty Center for Trauma Repair,Plastic Surgery Hospital,Peking Union Medical College, Chinese Academy of Medical Science .PARTICIPANTS: Totally 56 patients with orbital blow-out fractures who had enophthalmos deformity caused by fists or traffic accidents, treated at Beauty Center for Trauma Repair,Plastic Surgery Hospital, Peking Union Medical College, Chinese Academy of Medical Science, were selected in this study from December 1996 to March 2004. Final diagnosis were made with case history, X-ray film, two-demensional and three-dimensional CT before operation. 24 cases were accompanied with other areas fractures such as zygoma and nasal bone, 34 cases with diplopia, 35 cases with visual acuity worsening after injured.METHODS: ①Material implantation: Exposure of the orbital floor, inferior and medial walls could be performed through a 2 mm inferior subciliary incision of 3 cm long. To approach the orbital rim via a dissection plane anterior to the orbital septum, sub-periosteal dissection was then performed over the orbital rim, and along the orbital floor to the orbital apex. Mobilized the soft tissue from the bone throughout the entire area of fractures and re-position it to its proper position. Took Medpor (Type 6331) sheets as the implantation materials, trimmed Medpor sheets according to the radian and anatomic form, and 2 mm larger than the defect rim was needed.If other operations were needed during the operation, they could be done.Mannitol and dexamethasone should be used just postoperatively to decrease edema of the orbital contents and reduce inner orbital excessive pressure. ②Functional evaluation standard: Diplopia: completely disappear meant recovered, less diplopia residual meant improvement, no improvement meant inefficacy. Enophthalmos: marked improvement meant the degree of enophthalmos stabilizated at below 2 mm, less improvement meant stabilizated at above 2 mm.MAIN OUTCOME MEASURES: ①Improvement of enophthalmos; ②Improvement of diplopia ; ③Improvement of visual acuity.RESULTS: ①All 56 cases of enophthalmos deformities caused by orbital blow-out fractures improved greatly. ② Of all the 34 patients with diplopia, 27 recovered. ③ 9 patients' visual acuity of 35 improved with different degrees. No diplopia or visual acuity worsening occurred. With a follow-up ranging from 2 months to 5 years, the degree of enophthalmos stabilizated at below 2 mm, and no relapse and other complications occurred.CONCLUTION: Medpor has such advantages as better histocompatibility,fewer complications and better visual function improvement, so it is the preferred implantation material for correcting enophthalmos deformity caused by orbital blow-out fractures.

Objective To discuss the clinical characteristic and diagnosis of children with moyamoya disease(MMD).Method The clinical features of 4 children with MMD were analyzed.Results The early clinical spectrum in children with MMD was transiently ischemic attack,and presented with injured neuron manifestations after some seizures,such as paralysis,extremity sensory disturbance, seizure of epilepsy,language disorder,involuntary movement and psychotic symptoms.Magnetic resonance angiography(MRA) and DSA demonstrated multiple cerebral vessels occlusion or stenosis and moyamoya vessels,so MRA became the first choice for detec- ting MMD.Conclusions The clinical symptom and neuron symptom of children MMD may not be typical,and it is easily misdiagnosed.Its correct diagnosis depends on thorough physical examination,appropriate laboratory tests,and the general knowledge of this disease.

Objective To explore the effects of smoking and alcohol drinking on arsenic metabolism of people exposed to different concentrations of arsenic in drinking water.Methods Residents in Shanxi exposed to different concentrations of arsenic in drinking water and age ≥ 18 years old adults were chosen as the subjects for this study in 2008,the subjects were divided into three groups according to the concentrations of arsenic in drinking water: high-arsenic exposure group (more than 0.05 mg/L),low-arsenic exposure group (between 0.01 and 0.05 mg/L) and control group(less than 0.01 mg/L),excluded recently had eaten seafood and had poisoning symptoms of chronic arsenic in drinking water in the crowd.Smoking and alcohol drinking habits were investigated by questionnaire.Arsenic species in the urine samples were detected with hydride generation atomic absorption spectroscopy.Total arsenic(tAs) was the sum of iAs％,MMA％ and DMA％.iAs％,MMA％ and DMA％ were calculated as iAs/tAs,MMA/tAs and DMA/tAs,respectively.The first methylation ratio(FMR) and the secondary methylation ratio(SMR) were calculated as (MMA + DMA)/tAs and DMA/(MMA + DMA),respectively.Results Three hundred and ninety-five adults were chosen in this study.In the high exposure group the alcohol drinking and smoking subjects had higher MMA％(16.24％) but lower SMR(82.19％ ) than the non-drinking and non-smoking subjects (12.16％ and 86.13％,respectively).The differences of both MMA％ and SMR were significant(P ＜ 0.05 ).No significant difference was observed between the non-smoking/non-drinking subjects and the smoking or the drinking subjects(all P ＞ 0.05 ).In the low exposure group there were higher MMA％( 13.86％,13.99％) lower DMA％(72.87％,77.76％)and lower SMR (83.48％,83.90％ ) in those with smoking or drinking/smoking compared with the non-drinking and non-smoking subjects (11.83％,80.35％ and 86.54％,respectively,all P ＜0.05 ).No significant difference was observed between drinkers and non-drinking/non-smoking subjects(P ＞ 0.05).In the control group there were a higher MMA％( 17.27％,17.06％) lower DMA％ (73.89％,72.29％) and lower SMR (81.48％,82.58％ ) in those with smoking or drinking/smoking compared with the non-drinking and nonsmoking subjects( 11.52％,79.68％ and 87.19％,respectively,all P ＜ 0.05).No significant difference was observed between drinkers and the non-drinking/non-smoking subjects (all P ＞ 0.05).ConclusionThe arsenic methylation capacity of people with drinking and smoking is poorer than that of non-drinking and non-smoking subjects after arsenic exposure.