Interobserver agreement of international classification of myopic maculopathy / 中华眼底病杂志

Objective:To observe the interobserver agreement of classification of macular degeneration in severe pathological myopia (PM) by ophthalmologists with different clinical experience.Methods:A retrospective study. From January 2019 to December 2021, 171 eyes of 102 patients with severe PM macular degeneration who were examined at Eye Center of Beijing Tongren Hospital of Capital Medical University were included in the study. The clinical data such as age, gender, axial length, spherical equivalent power, fundus color photography, and optical coherence tomography (OCT) were collected in detail. Six independent ophthalmologists (A, B, C, D, E, F) classified each fundus photography based on META-PM and ATN classification of atrophy (A) system and interobserver agreement was assessed by Kappa statistics. According to the classification standard of traction (T) in the ATN classification, the OCT images were interpreted and classified, in which T0 was subdivided into retinal pigment epithelium (RPE) and choroidal thinning, choroidal neovascularization (CNV) with partial RPE and choroidal atrophy, RPE, and choroidal atrophy. Lamellar macular hole can't be classified by ATN system, which was defined as TX. Kappa ( κ) test was used to analyze the consistency of classification results between physicians A, B, C, D, E and F. κ value ≤0.4 indicates low consistency, 0.4 < κ value ≤ 0.6 indicates moderate consistency, and κ value >0.6 indicates strong consistency. Results:Among the 171 eyes of 102 cases, there were 20 males with 37 eyes (19.6%, 20/102), and 82 females with 134 eyes (80.4%, 82/102); age was 61.97±8.78 years; axial length was (30.87±1.93) mm; equivalent spherical power was (-16.56±7.00) D. Atrophy (A) classification results in META-PM classification and ATN classification, the consistency of physician A, B, C, D, E and physician F were 73.01%, 77.19%, 81.28%, 81.28%, 88.89%; κ value were 0.472, 0.538, 0.608, 0.610, 0.753, respectively. In the ATN classification, the T0, T1, T2, T3, T4, and T5 were in 109, 18, 11, 12, 9, and 8 eyes, respectively; TX was in 4 eyes.Conclusions:There are differences in the consistency of classification of severe PM macular lesions among physicians with different clinical experience, and the consistency will gradually improve with the accumulation of clinical experience.

Application of [11C] CFT dopamine transporter PET imaging in the diagnosis and severity assessment of Parkinson disease / 中国神经精神疾病杂志

Objective To investigate the clinical value of [11C]CFT PET in the diagnosis and severity assessment of Parkinson disease (PD). Methods Thirty-eight patients with PD at various Hoehn & Yahr (H&Y) stages were included and underwent a [11C]CFT PET scan. The correlation between [11C]CFT uptake and unified Parkinson disease rating scale part III (UPDRS III) of PD patients was evaluated by calculating Pearson’s regression coefficient. Statistical parametric mapping (SPM) analysis was performed to compare the difference of dopamine transporter (DAT) distribution between ear-ly and advanced PD patients. Results There was a significant reduction of [11C]CFT uptake in the bilateral striatum of PD patients. There was a significant negative correlation between clinical scores of UPDRS III, rigidity, bradykinesia, pos-ture, gait and [11C]CFT uptake in the striatum. The SPM analysis revealed a significant and asymmetric decrease of [11C] CFT uptake in the striatum, predominantly on the putamen and caudate nucleus contralateral to the onset limb, in the posterior area of ipsilateral putamen in early PD (H&Y 1-2) patients compared with the normal controls. There was a sig-nificant symmetric decrease of [11C]CFT uptake in both putamen and caudate nucleus in advanced PD (H&Y 3-5) pa- tients, compared with normal controls. Compared with early PD patients, the reduction of DAT was more severe in bilater-al caudate nucleus and the ipsilateral putamen in the advanced PD patients. Conclusions [11C]CFT PET is a sensitive biomarker in the diagnosis and assessment of disease severity of PD patients.

Timing and prognosis of surgical operation for 32 patients with severe acute biliary pancreatitis / 中华胰腺病杂志

Objective To investigate the timing of surgical operation and prognosis of patients with severe biliary pancreatitis (SBP).Methods The patients were classified into three groups according to the interval between disease onset and operation time ( ＜7 d, 7 ～ 14 d, ＞ 14 d).The incidence of complications and mortality were compared among the 3 groups.Results A total of 32 patients of acute pancreatitis due to biliary tract diseases between 2006 and 2009 were included, and there were 15 males and 17 females with a median age of 51 years old.9 patients received operation within 7 days of disease onset and all of these patients were complicated with biliary obstruction;12 patients received operation between 7 ～ 14 days of disease onset and all of these patients were non-respondent to early non-operative management.11 patients received operation after 14 days.The complication rates in the three groups were 44.4% , 50.0% and 45.5%, respectively, the difference was not statistically significant ( P ＞ 0.05 ).The mortality rates in the three groups were 11.1%,16.7% and 18.2%, respectively, and the difference was not statistically significant ( P ＞ 0.05 ).Conclusions The management of SBP should be individualized.Patients with biliary obstruction, suppurative cholangitis or non-respondent to early non-operative management shall be managed surgically, and this is critical to decrease the mortality rates and improve prognosis.

Exogenous leptin reduce blood inflammatory cytokines in severe rats acute pancreatitis by suppressing NF-κB activity / 中国医师杂志

Objective To investigate the effect of leptin on transcription factor nuclear-κB (NF-κB) activity of pancreatic tissue and blood inflammatory cytokines (TNF-α,IL-1β) in severe acute pancreatitis. Methods Thirty-six rats were randomly divided into three groups, including sham group (group A, n = 12), AP model group(group B, n = 12) and Leptin treatment group (group C, n = 12). SAP was induced by intraductal injection of 5% sodium taurocholate into the pancreatic duct. Exogenous leptin was injected I. P. Fifteen minutes later. The concentration of serum amylase, leptin, TNF-α, IL-1βwere measured by radioimmunoassay 6 hours later. NF-κB activity of the pancreatic tissue were measured by immunohistochemistry. The changes of pathology of the pancreas were observed. Results The levels of serum amylase, cytokine TNF-αand IL-1βwere significantly reduced in group C, and the levels of serum leptin were significantly increased in group C. NF-κB activity in the pancreatic tissue in group B were significantly higher than that in group A. However, NF-κB activity of the pancreatic tissue in group C were significantly lower than that in group B. Furthermore, the extent of necrosis of the pancreatic tissue was re-lieved. Conclusion Exogenous leptin protected the rats pancreas against damage by sodium taurocholate. The protective effects of exoge-nous leptin were attributive to the reduction in cytokines TNF-α, IL-1β. The possible protective mechanism was that leptin decreased NF-κB activity.

Relationship between hereditary susceptibility of Parkinson disease and polymorphism of NAD (P) H: quinone oxidoreductase gene / 中国组织工程研究

BACKGROUND: Causes of Parkinson disease have not been mentioned clearly up to now yet. Theory of hereditary susceptibility is the main theory to explain Parkinson disease now. But there is no definite conclusion on which hereditary factors have relationship with it.OBJECTIVE: To study the relationship between gene polymorphism caused by point mutation C to T on cDNA609 basic group of reduced NAD(P) H:quinone oxidoreductase(NQO1) gene and hereditary susceptibility of Parkinson disease.DESIGN: A non-randomized synchronized control research based on patient and healthy people.SETTING: Neurology departments in two university hospitals and a senile disease research institute in a university hospital.PARTICIPANTS: Totally 126 patients(Parkinson disease group) diagnosed as Parkinson disease in Neurology Clinic of First Hospital Affiliated to Sun Yat-sen University from September 1994 to September 1997, aged 46 to 73 years, in which 74 were males and 52 were females. Totally 136 healthy adults (control group), in which 66 were males and 70 were females, who came to the clinic to do health examination at the same time, aged 40 to 72 years.METHODS: Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) was used to analyze NQO1 gene polymorphism in Parkinson disease group and healthy adult control group.MAIN OUTCOME MEASURES: Mutation frequency and genotype of point mutation of basic group C to T on NQO1 gene cDNA609.RESULTS: T allele frequency in Parkinson disease group was 52% and that in control group was 43%. There was significant difference between two groups (P ＜ 0. 005) . There was significant difference on distribution of genotype in Parkinson disease group and control group( P ＜ 0.05). The risk incidence increased 3.8 times in individual with T allele.CONCLUSION: NQO1 gene cDNA609 mutation T allele may be a risk factor to Parkinson disease, which could be associated with the hereditary susceptibility of Parkinson disease.

Is the human dystrophin gene's intron structure related to its intron instability? / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To study the human dystrophin gene molecular deletion mechanism, we analyzed breakpoint regions within junction fragments of deletion-type patients and investigated whether the dystrophin gene's intron structure might be related to intron instability.</p><p><b>METHODS</b>Junction fragments corresponding to exon 46 and 51 deletions were cloned. The breakpoint regions were sequenced, and the features of introns with available Genebank sequences were analyzed.</p><p><b>RESULTS</b>An analysis of junction fragment sequences corresponding to exon 46 and 51 deletions showed that all 5' and 3' breakpoints are located within repeat sequences. No small insertions, small deletions, or point mutations are located near the breakpoint junctions. By analyzing the secondary structure of the junction fragments, we demonstrated that all junction fragment breakpoints are located in non-matching regions of single-stranded hairpin loops. A high concentration of repetitive elements is found to be a key feature of many dystrophin introns. In total, 34.8% of the overall dystrophin intron sequences is composed of repeat sequences.</p><p><b>CONCLUSION</b>Repeat elements in many dystrophin gene introns are the key to their structural bases and reflect intron instability. As a result of the primary DNA sequences, single-stranded hairpin loops form, increasing the instability of the gene, and forming the base for breaks in the DNA. The formation of the single-stranded hairpins can result in reattachment of two different breakpoints, producing a deletion.</p>

A new point mutation on exon 2 of parkin gene in Parkinson's disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the relationship between point mutations on exon 2 of parkin gene and sporadic early-onset Parkinson's disease.</p><p><b>METHODS</b>The point mutations on exon 2 of parkin gene were detected using polymerase chain reaction(PCR), agarose electrophoresis, single strand conformation polymorphism(SSCP), DNA sequencing and analysis of restrict enzyme in DNA of 60 Parkinson's disease patients with an onset age under 50 and 120 normal controls.</p><p><b>RESULTS</b>One homozygous mutation (G(237)-->C) on exon 2 was found by sequencing and verified by analysis of restrict enzyme, whereas no mutation was found in normal controls.</p><p><b>CONCLUSION</b>Point mutations on exon 2 of parkin gene are likely to be related to sporadic early-onset Parkinson's disease.</p>

The Molecular Biological Study of Hepatolenticular Degeneration / 中山大学学报(医学科学版)

【Objective】 To investigate the molecular basis of hepatolenticular degeneration (Wilson disease, WD) and to attempt to construct the feasibility of gene diagnosis in the disease. 【Methods】 We have performed the molecular biological study on this disease for 10 years by molecular geneti c techniques. 【Results】 ①Location of WD gene in Ch inese: Using pairwise linkage analysis and multipoint linkage analysis method, w e constructed a genetic map of DNA markers within D13q14.2-3 which refined the location of WD gene by restriction fragment length polymorphism(RFL P) and microsatellite polymorphism analysis; ②Screen for mutations of WD gene in Chinese people: we detected the structure of 21 exons of WD ge ne in 45 patients from 39 pedigrees by PCR-SSCP(Single strand conformation poly morphism) and PCR-DNA sequencing technology, found a new mutation in exon 5 and nuclcotide sequence analysis showed it is a T insertion. We also conformed the Arg778Leu in exon 8, the highest frequence mutation point in Chinese people, wit h mutation rate 22.8% in total;③Carrier detection and presymptomatic diagnosi s of WD: Based on DNA recombination technology, we peformed successfully the gen e diagnosis in all individuals of 79 families with WD and built up a helpful spe cific enzyme cut method (PCR-Msp1) to detect the carrier and presympomatic patients in Chinese pe ople with WD. 【Conclusion】 These results showed that the location of WD gene within D13q14.2-3 is the same in Chinese as in Caucasians, but the g ene high m utation point,the gene diagnosis method and its pathogenesis are markly different.

Dispersible formulation of levodopa-benserazide in treatment of 204 parkinson disease: a multicenter study / 中国新药与临床杂志

AIM: To study the efficacy and safety of dispersible formulation of levodopa-benserazide on the parkinson disease.　METHODS: The multicenter, open-label, self-controlled trial was conducted at 23 hospitals in 15 cities. Two hundred and four patients with idiopathic parkinson who had received standard levodopa-benserazide previously participated in this study. Dispersible levodopa-benserazide instead of standard levodopa-benserazide for 8 wk as a course. The Webster rating scale and patient diary were applied to assess the efficacy and safety of dispersible levodopa-benserazide.　RESULTS： The medication with dispersible levodopa-benserazide increased “on” time by 47 min, decreased “off” time by 11 min, and speeded the onset of “on” time by 37 min. The Webster score was improved by 25 %. Statistical significant difference was calculated (P<0.01). Slight and few adverse reactions were found.　CONCLUSION: Dispersible formulation of levodopa-benserazide is a powerful anti-parkinsonian drug characterized by oral easy use and rapid reach to therapeutic action after ingestion. This drug is particularly used in the parkinsonian patients with morning akinesia, delayed onset of “on” time, afternoon “off” status and dysphagia.

Mutation Detection on Exon 1 and 2 of Parkin Gene in Sporadic Early-onset Parkinson's Disease / 中山大学学报(医学科学版)

【Objective】To study the relationship between mutations on exon 1,2 of parkin gene and sporadic early-onset Parkinson's disease.【Methods】The deletion and single strand mobility shift on exon 1 and 2 of parkin gene in peripheral white blood cell DNA were detected by using PCR,agarose electrophoresis,and SSCP techniques in 52 patients with sporadic early-onset (onset age≤50) Parkinson's disease.The exons with mobility shift on SSCP were sequenced.【Results】One deletion（1.9%） of exon 2,2 cases with single strand mobility shift（3.8%）on exon 1 and exon 2 respectively,one heterozygous mutation (T103C) on exon 1 and one homozygous mutation (G237C) on exon 2 were found by sequencing.【Conclusion】Mutations on exon 1 and 2 of parkin gene are likely to be related to sporadic early-onset Parkinson's disease.

Application of stem cells / 中国病理生理杂志

This review describes the application of stem cells.Stem cells have proliferating and (multipotential) differentiation properties.Stem cells play an important role in the repair tissue and organs.

Dystrophin expression in mdx mouse restored by bone marrow transplantation / 中华神经科杂志

Objective Duchenne muscular dystrophy (DMD) is a lethal inherited disorder; the main pathogenesis is deficiency of dystrophin Our study is to observe dystrophin expression in myofibers of mdx mice (an animal model of DMD) transplanted with different bone marrow cells Methods Bone marrow cells, suspension cells and stromal cells were cultured in vitro from C57BL male mice, and these cells were transplanted respectively by tail vein of irradiated mdx mice Dystrophin expression of female mdx mice was detected dynamically By using PCR technique, Y chromosome specific sex determining regions were detected dynamically with the blood of transplanted female mdx mice Results Few dystrophin expression in myofibers (

Myoblast transplantation in mdx mice prevents muscle damage by exercise / 中国病理生理杂志

AIM: To observe skeletal muscle damage of mdx mice after overload exercise, and protection to muscle damage induced by exercise due to myoblast transplantation (MTT). METHODS: Muscle samples of C 57 mice were minced and digested with trypsin, and myoblasts were cultured ex vivo , purified and detected by immunohistochemistry stains. The myoblasts were injected into muscle of left limb of mdx mice, whereas the right limb was injected with DMEM liquid as control. Mice were submitted to exercise for 3 days starting 1 month after MTT, and then Evans blue was injected intravenously through the tail vein. The muscle cryostat sections of mdx mice were made, and then detected the immunofluorescence of dystrophin. Under a fluorescence microscope, the number of fiber stained with Evans blue and dystrophin was counted, analyzed quantitatively with image software. RESULTS: Under a fluorescence microscope, only 10 37%?2 87% muscle fibers in the myoblast grafted muscles were stained with Evans blue. In contrast, 26 82%?14 85% muscle fibers in right control muscles were stained. Significant differences between these two groups were showed ( P

Advances in neural stem cells / 中国病理生理杂志

Neuralstemcells (NSCs)maintainthepotentialofproliferationanddifferentiationin nervesystem .TheresearchandapplicationofNSCshavedevelopedintoafrontierofneuroscienceinrecent years .Thisreviewdescribesthespecificity ,contribution ,regulationmechanismandapplicationofNSCs . Neuralstemcellsplayanimportantroleinthenervoussystemofgrowthandreparation . [

Skeletal muscles of mdx mice were damaged after overload exercise / 中国病理生理杂志

AIM: To observe the effects of overload exercise on skeletal muscles in X-linked muscular dystrophy(mdx) mice.METHODS: Mdx mice and C57 mice were carried out swimming and hanging tail movement tests (mdx mice as control did not exercise). It lasted for 13 minutes each time per day, and lasted 3 days. Evans blue was injected into tail vain. The mice were killed the next day, and the hind limbs were taken photographs after skins were flayed. The gastrocnemius muscles and diaphragms cryostat sections were made. Under a fluorescence microscope, Evans blue staining was seen. Then the sections were tested by routine HE staining, the histological change of muscles was analyzed under a light microscope.RESULTS: Many blue colored longitudinal lines were observed in skeletal muscles of mdx mice, whereas they were hardly seen in control mdx and C57 mice. Under a fluorescence microscope, some muscle fibers of mdx mice were stained with Evans blue, few muscle fibers of control mdx mice were stained, and C57 mice were not. Under a light microscope, HE staining of muscles showed some degenerated muscle fibers became round in shape and the myonuclei became condensed, or necrotic fibers had amorphous structures, most of them in the degenerated and necrotic fibers of diaphragms C57 mice did not have these changes.CONCLUSION: Overload exercise did harm to skeletal muscles of mdx mice; Vital staining with Evans blue is useful not only for distinguishing degenerating muscle fibers, but also for studying the degeneration process in dystrophin-deficient muscle.