Objective To evaluate the relationship between damages of visual field and retinal nerve fibre layer(RNFL)thickness in primary open angle glaucoma(POAG)with high myopia.Design Retrospective,case-controlled study.Participants POAG group with high myopia(21 eyes of 17 cases),POAG group with non-high myopia(17 eyes of 16 cases),high myopia group without POAG(25 eyes of 20 cases)and normal control group(19 eyes of 17 cases).Methods The static central visual fields were tested with Humphrey 750 automated perimetry and thickness of RNFL was measured with optical coherent tomography(OCT).Main Outcome Measures Mean deviation(MD),pattern standard deviation(PSD)and mean sensitivity at upper,lower,nasal and temporal quadrants in total deviation probability plots.Thickness of RNFL at upper,lower,nasal and temporal quadrants.Results There were more obvious general depression of sensitivity in total deviation probability plots of the early POAG with high myopia than those of POAG without high myopia,and the early visual field defects of glaucoma in pattern deviation probability plots of this group.MD of POAG with high myopia was more than those of others(P＜0.05).The differences of MD,PSD and mean sensitivity between POAG with high myopia and others were significant(P＜0.05).Mean sensitivities in each quadrant of POAG without high myopia were similar to those of high myopia(P＞0.05).The thickness of RNFL of POAG with high myopia was thinner than those of others and the thickness of RNFL of normality was thicker than that of others.The correlationship between mean sensitivity and the thickness of RNFL in each quadrant was significant(P＜0.05).Conclusion Pattern deviation probability plots is an important favor for judgement of the visual field changes in POAG with high myopia.The relationship between RNFL thickness with OCT and visual field damage may provide clinically relevant information in diagnosis of POAG with high myopia

Fatal Outcome ; Humans ; Infant, Newborn ; Leukemia ; blood ; congenital ; diagnosis ; Leukocyte Count ; Male

Objective To analyze white matter hyperintensities(WMH)and brain volumes quantitatively in patients with Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy(CADASIL)on conventional MRI and correlate them with clinical parameters.Methods Fifteen patients with CADASIL confirmed by pathological investigation underwent conventional MRI examinations.Involvement of centrum semiovale,posterior limbs of the internal capsule,corpus callosum,external capsules and white matter of the temporal poles was determined by an experienced radiologist.Normalized brain volume(NBV)and the percentage of WMH to brain volume were calculated with softwares and they were correlated with NIHSS and MMSE statistically.Results Involvement of white matter in the brains of patients with CADASIL included:semiovale centrum in 13 cases,white matter of the temporal poles in 10 cases,external capsules in 8 cases,posterior limbs of the internal capsule in 5 cases,corpus callosum in 4 cases.The percentage of WMH to brain volume was(5.7±1.4)%,and the NBV was(1602±58)×103mm3.Spearman test showed a significant relationship between age and NBV(r=-0.555,P＜0.05).There was a significant relationship between NBV and NIHSS(r=-0.624.P＜0.05).The percentage of WMH to brain volume correlated significantly with NIHSS and MMSE(r=0.522,P＜0.05;r=-0.679,P＜0.01).Conclusions The white matter hvperintensities and brain volume in patients with CADASIL can be assessed quantitatively,which showed correlation with severity of the clinical scale.The development of WMH may refleet the degree of cognitive impairment in CADASIL.

The ultimate goal of post-genome research is to understand a complete set of proteins in a living organism for their expression pattern and biological function,which is called proteomics.One of the major challenges in proteome research is to study the protein-protein interactions,and the emerging bioinformatics approaches present us tremendous advantages when dealing with protein interaction networking and data analysis.Useful bioinformatics tools include protein-protein interaction network mapping,topology of the network,structure of the module and comparison of the network.The technology advancement in this field brings further understandings to the structure and function of cells at the proteome level,which may eventually lead to the discovery of new drug targets and design methods.This paper attempts to review the current researches on protein-protein interaction with an emphasis on bioinformatics intervention,and also summarizes some widely used methods for network analysis.

Objective To investigate the clinical, electrophysiological and pathological features of critical illness polyneuropathy and myopathy (CIPNM). Methods The clinical outcomes, electromyogram Results as well as pathological features in nerves and muscles of 3 patients with CIPNM were investigated and analyzed. Results 3 patients were all provided with assisted respiration after tracheal intubation. 7～10 d after intubation, all the patients emerged muscle strength and tendon reflexes of extremities weakening; while 14 days after that, 2 patients appeared amyotrophy of extremities. Electromyogram showed that the conduction of many motor and sensory nerves for extremities decreased, while the amplitude of compound muscle action potential (CMAP) of part of motor nerves decreased. Biopsy for nerves revealed decreased medullated nerve fibers and regeneration phenomenon of auxiliary fibers; while that for muscles showed neuralgic damage and myopathy-like changes. Conclusion CIPNM can complicate after tracheal intubation. The electrophysiological and pathological examinations for nerves and muscles can be helpful for the diagnosis.

Objective To assess retinal arteriole stenosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to evaluate the relationship between retinal arteriole stenosis with cranial MRI changes and clinical features. Methods Sixteen CADASIL patients (mean age was (43.4±8.1)years, mean duration was(4.7±3.4)years)and sixteen age matched healthy individuals were enrolled. Mini-Mental State Examination (MMSE) and modified Rankin scale scoring were performed in 16 patients. Cranial MRl with Coulthard scores was assessed on CADASIL patients as well. Retinal examinations for arteriole stenosis were done for each subject. Bivariate correlations (Kendall's tau-b) were used to assess the relationship among the grade of retinal stenosis, MMSE, modified Rankin seale, cranial MRI with Coulthard scores and age. Results Retinal arteriole stenosis presented in 15 cases. in whom 4 cases showed mild arterio-venous nicking. while it only presented in 2 controls. Grade 0.Ⅰ, and Ⅲ of retinal arteriole stenosis are noted in 1/16,4/16,7/16 and 4/16cases respectively. Coulthard scores of cerebral MRl were 6.0.19.0.25.1 and 29.8 respectively from Grade 0 toⅢ of retinal arteriole stenosis. The correlation coefficient of retinal arteriole stenosis and cranial MRI scores was 0.743(P＜0.001＝,MMSE-0.429(P＜0.05＝,modified Rankin scale 0.437(P＞0.05).and age 0.299(P＞0.05).Conclusion Retinal arteriole stenosis is significantly correlated with lesion in cranial MRI and dementia.

Objective To analyze the dynamic evolution of brain MRI in patients with mitochondrial myopathy,encephalopathy,lactic acidosis,and stroke-like episodes (MELAS) syndrome.Methods A retrospective study was performed on 58 MELAS cases with pathologically and (or) molecularly confirmed diagnosis.MRI were repeated within 60 days after the onset of stroke-like episodes (SLE) and the evolution changes of cerebral lesions were accessed.Brain atrophy index (BAI) was calculated in the remission stage from 31 patients with MELAS,and the correlation between BAI,age and disease duration was analyzed.Results The proportion of lesions expansion,migration and shrink within 30 days after the onset of SLE was 64.1％ (25/39),10.2％ (4/39),17.9％ (7/39),respectively,and 13％ (3/23),21.7％ (5/23),56.5％ (13/23),between 30-60 days after the onset of SLE respectively.In the recovery stage of SLE,the BAI in 31 patients with MELAS was 15.2％ ±2.8％.The correlation coefficient between BAI and the age,total disease course and duration of encephalopathy was 0.329 (P =0.043),0.405 (P =0.012) and 0.649 (P =0.000).Conclusions Brain atrophy in the studied MELAS patients gradually develops and strokelike lesions shrink with progression of the disease.However,the migration of lesions is persistent.

Objective To study the pathological characteristics of skeletal muscle in patients with polymyalgia rheumatica(PMR).Methods Thirteen patients were diagnosed PMR according to the diagnostic criteria described by Bird in 1979.The onset of disease was between 49-78 years of age (median 60.3 years).All of them showed continuous symmetric myalgia with markedly elevated erythrocyte sedimentation rate(ESR).Five patients had mild fever and 8 patients had elevated C-reactive protein(CRP).Electromyogram(EMG)showed myogenic pattern in 2 patients.Only 1 patient showed anemia and 2 patients had mild elevated creatinine phosphokinase.None of them showed evidence of temporal arteritis.Biceps brachii muscle biopsies were performed in all patients before corticosteroid therapy.Results The typeⅡmuscle fiber atrophy was observed in all patients.Moth-eaten changes appeared in 8 cases,increased intramuscular lipid drops in 8 cases and ragged red fibers(RRF)in 3 cases of them.After steroid therapy,all patients showed improvement of myalgia and normal ESR as well as CRP.Conclusions The main symptoms of the patients are myalgia and abnormal ESR.Some patients have high level of CRP and abnormal EMG.Anemia and temporal arteritis are less frequent.The main myopathological changes were typeⅡmuscle fiber atrophy.Some patients have moth-eaten changes.More lipid drops and RRF indicate abnormal metabolism of skeletal muscle.

Objective To report the development of clinical symptoms in a Chinese family with autosomal dominant progressive external ophthalmoplegia(adPEO).Methods Electromyologram and muscle biopsy were performed in the proband and 4 family members with the disease.Results The proband was a 57 year-old woman,who developed bilateral ptosis after the age of 30,external ophthalmoplegia after the age of 35 years old,weakness of extremities at the age of 37 years old and bulb palsy with palmus at the age of 47 years old.In the family there were 20 male and female members from five generations.All of them complained about bilateral ptosis between 26—33 years old,external ophthalmoplegia(12/15)and weakness of all extremities(14/15)between 35—45,facial and masticatory weakness(9/9)as well as dysphagia(8/9)between 44—60,accompanied with heart lesions(4/7)after 50 years old.Some patients died due to cardiac impairment.Electromyologram showed myopathic abnormalities in the examined patients. The main myopathological changes were ragged red fibers,cytochrome c oxidase negative fibers and ragged blue fibers in succinate dehydrogenase staining.Conclusions The adPEO started from extra-ocular muscles to limbs,finally facial and bulbar muscles.Heart lesions were presented in late stage and lead to death in some members.The developing process of symptoms suggested that we should pay more attention to cardiac manifestations in this disease.

Objective To analysis the clinical manifestations of mtDNA A3243G mutation in adulthood.Methods The clinical features were investigated in 36 cases (28 patients from 5 families with the mutation and 8 sporadic cases),in whom mtDNA A3243G mutation was confirmed genetically in 23 cases (15 cases from 5 mutation families and 8 sporadic cases).Cranium radiology was performed in 14 cases.Muscal biopsies were performed in l0 cases.Results Among 28 cases in the 5 family,there were 9 cases (32.1%) with stroke like episodes,17 cases (60.7%) with diabetic mellitus and 16 cases (57.1%) with deafness.Such symptoms usually combined with each other and rarely existed alone. Cardiomyopathy and renal failure were uncommon.In the 23 cases with mtDNA A3243G mutation,14 cases (61.0%) had mitochondria] myopathy,encephalopathy,lactic acidosis,and stroke-like episodes (MELAS),mostly presenting cognitive abnormalities,dysarthria or aphasia and headache,3 cases (13.0%) were asymptomatic carriers,2 cases (8.7%) had autonomic dysfunction,2 cases (8.7%) had diabetic mellitus with or without nerve deafness,1 case (4.3%) had diabetic mellitus with infertilitas and cardiomyopathy,respectively.Cranial radiological images revealed the changes more commonly in the temporal and occipital lobes and less frequently in the frontal lobes.Ragged red fibers were confirmed in 9 of 10 cases with muscle biopsies.The proportion of mutant mtDNA A3243C was not significantly different between MEALS (28.75%?13.69%) and non-MELAS (25.08%?11.54%).Conclusions mtDNA A3243G mutation mainly results in the lesions in the central nerve system,pancreatic island and acoustic nerve in adulthood.Heart and kidney are less frequently involved.Cognitive abnormalities,aphasia and headache are the major symptoms of adult MELAS.Families have with more than 1 patient with diabetic mellitus and deafness,indicating that the mutation is other than MELAS mutation.We should pay more attention to the non-MELAS symptoms in the families with mtDNA A3243G mutation.