ObjectiveTo report clinical, pathological and molecular genetic features in a Chinese family with hereditary motor and sensory neuropathy type 6. MethodsThe index case is a 15 years old boy.He developed progressive distal limb weakness at the age of 5.The disease deteriorated slowly,accompanied with contracture of achilles' tendon. At the age of 11 years old he suffered from decrease of visual acuity. At the age of 12, he found the muscular atrophy of both hands without sensory disturbances.Visual evoked potential revealed prolonged latency of bilateral P100. Ophthalmological examination showed bilateral optic atrophy. His mother had the similar symptoms at the age of 7 and reduced visual acuity at the age of 10. Nerve conduction velocity revealed in both pat1ents no compound motor and sensory nerve action potentials in most nerves or slightly reduced nerve conduction velocities with severely reduced amplitudes of the compound motor and sensory nerve action potentials. Sural nerve biopsy was performed on the proband.The sequence of MFN2 gene was analyzed in DNA from the index, his mother and 100 healthy controls.ResultsSural nerve biopsy revealed severe loss of myelinated fibers with few regenerating clusters.Ultrapathological examination showed a few of atypical bulbs of myelinated fibers, occasionally regenerating clusters, mitochondrial swelling and aggregation in a few of axons. A new mutation of W740R mutation in MFN2 gene has been identified in the index case, her mother, but not in 50 healthy controls. Conclusions A novel MFN2 gene mutation result in hereditary motor and sensory neuropathy type 6.Mild visual loss appeares after the lesion of spinal nerves. Demyelination of peripheral nerve appears in the disease.

Objective To investigate the clinical features,etiology and risk factors of the inpatients with ischemic stroke in the Department of Cardiology.Methods The medical records of the inpatients with ischemic stroke and the inpatients in a control group were collected retrospectively.The demographics,vascular risk factors,clinical features,and other related factors were compared in both groups.Multivariate logistic regression analysis was used to analyze the independent risk factors for in-hospital ischemic stroke in the Department of Cardiology.Results A total of 2 789 inpatients in departments of cardiology were enrolled,and 26 of them (0.93％) had in-hospital stroke.One hundred thirty inpatients from 2 763 patients without in-hospital stroke were used randomly as control cases.The proportions of the inpatients of hypertension (73.08％ vs.50.77％ ; x2=4.348,P=0.037),atrial fibrillation (50.00％ vs.15.38％; x2=15.56,P=0.000),infection (30.77％ vs.7.69％ ; x2 =11.304,P =0.003),smoking (46.15％ vs.21.54％ ; x2 =6.886,P =0.009),alcohol (26.92％ vs.11.54％ ;x2 ＝ 4.233,P =0.040),previous stroke history (19.23％ vs.4.61％ ;x2 =7.062,P =0.008),and taking anti-hypertensive drugs (42.31％ vs.21.54％ ;x2 =4.985,P =0.026),as well as systolic blood pressure (143.43 ± 18.59 mm Hgvs.129.52 ± 23.52 mm Hg; t =3.209,P=0.003; 1 mmHg =0.133 kPa),diastolic blood pressure (88.77± 11.35 mm Hg vs.77.55± 14.60 mmHg; t=2.421,P =0.020),and homocysteine levels (19.27 ± 11.08 μnol/L vs.15.30 ±5.25 μmol/L; t =2.814,P =0.006) in the stroke group were significantly higher than those in the control group in the Department of Cardiology.Multivariate logistic regression analysis showed that atrial fibrillation (odds ratio [OR] 3.310,95％ confidence interval [CI] 1.207-9.076; P =0.020),infection (OR 3.270,95％ CI 1.024-10.438; P =0.045),systolic blood pressure (OR 1.023,95％ Cl 1.002-1.045; P =0.031),and homocysteine level (OR 1.089,95％ CI 1.009-1.175; P =0.029) were the independent risk factors for in-hospital ischemic stroke in the Department of Cardiology.Conclusions Atrial fibrillation,infection,systolic blood pressure,and high homocysteine levels are the independent risk factor for in-hospital ischemic stroke in the Department of Cardiology.Active intervention and control these risk factors may have great significance for reducing its risk.

Hepatic eosinophilic granuloma (HEG) is a rare benign liver disease,which belongs to histocytosis.Preoperative diagnosis of HEG was difficult because its clinical manifestation was not characteristic.In this article,the clinical data of 1 patient with HEG who was treated at the Jinhua Municipal Central Hospital of Zhejiang Province in September 2012 were retrospectively analyzed,and the diagnosis,differential diagnosis and treatment for HEG were investigated.

Objective To assess the diagnostic value of IMA,NLR,hs-CRP and CK-MB individually and the combined detec-tion for early acute myocardial infarction using ROC curve and Logistic regression.Methods To detect levels of IMA,NLR, hs-CRP,CK-MB and cTnI in serum or whole blood of AMI patients that had chest pain within 3 hours or between 3 and 6 hours,compared with 60 healthy people from Physical Examination Center.Applied Logistic regression,plotted ROC curve and calculated the area under ROC curve (AUC)to assess the diagnostic value of each index.Results The serum IMA,hs-CRP,CK-MB and cTnI or whole blood NLR levels of AMI patients with 3 hours were remarkably higher than normal con-trol,showing significant statistical difference (P<0.01)(AMI group:mean values of IMA,NLR,hs-CRP,CK-MB and cTnI were 96.04 U/L,3.77,13.39 mg/L,43.26 U/L and 0.063 ng/ml;normal control group:mean values of IMA,NLR,hs-CRP,CK-MB and cTnI were 78.10 U/L,2.02,3.12 mg/L,19.37 U/L and 0.040 ng/ml.The serum IMA,NLR,hs-CRP, CK-MB and cTnI levels of AMI patients in the group between 3~6 hours were higher than in the group within 3 hours (P<0.05).The AUC of combined detection of IMA,NLR,hs-CRP and CK-MB for early AMI was 0.98,higher than solo de-tection of IMA,NLR,hs-CRP and CK-MB,which were 0.89,0.83,0.79 and 0.85 respectively.Meanwhile,the AUC of com-bined detection for four markers also surpassed that of cTnI alone that was recognized as a classic serological marker to diag-nose AMI (AUC=0.78).Conclusion The combined detection of IMA,NLR,hs-CRP and CK-MB is superior to a single in-dex detection,which can significantly improve diagnostic efficiency for early AMI.

Objective To report clinical and pathological features in a Chinese family with CharcotMarie-Tooth disease type 2A2 (CMT2A2). Methods There were 5 patients (2 male and 3 female) in a family with an autosomal dominant inheritance pattern. The index case was a 36 years old woman. She developed progressive distal limb weakness at the age of 6, with pescavus at the age of 8. Other 4 family members presented with similar symptoms between the age of 3-7. Physical examination showed distal limb weakness and wasting, loss of sensory and contracture in all of them. Nerve conduction velocity revealed non-potential in several motor and sensory nerves in the proband and her son. Sural nerve biopsy was performed on the proband. The sequence of MFN2 gene was analyzed in DNA from 5 patients and 3 asymptomatic members. Results Sural nerve biopsy revealed severe loss of myelinated fibers with few regenerating clusters. Electron microscopy revealed aggregation of mitochondrian in the axons. A R94W mutation in MFN2 gene has been identified in 5 patients, but not in unaffected members. Conclusions We confirmed Chinese CMT2A2. Absent of regenerating cluster in the nerve indicated that MFN2 mutation predominantly resulted in lesions in the neurons.

Objective To assess circulating miRNAs’diagnosis value of breast cancer.Methods Conducted PubMed,Embase, the Cochrane Library,CNKI,cqvip,and wangfang database search in any language before June 2014.A total of 12 publica-tions were included in the meta-analysis.Then,the meta-analysis was performed using Meta-Disc 1.4.Meanwhile,the diag-nostic sensitivity,specitivity,positive likelyhood ratio,negative likelyhood ratio and diagnostic odds ratio were pooled by ran-dom-effects models.And the overall diagnostic performance was estimated by summary receiver operating characteristic curves (sROC)approaches.Stata12.0 was used to evaluated the publication bias.Results The pooled sensitivity was 80%(95%CI 0.77~0.82),specificity was 78% (95%CI 0.75~0.81);positive likelihood ratio was 4.09 (95%CI 2.80~5.99), negative likelihood ratio was 0.22 (95%CI 0.15~0.31),diagnostic odds rations was 20.64 (95%CI 10.24~41.62).The AUC for circulating miRNAs was 0.89 with Q value of 0.82.Publication bias was observed in existing literatures.Conclu-sion Circulating miRNAs is a potential biomarker in the diagnosis of breast cancer.

OBJECTIVE To investigate the effects of recombinant human epidermal growth factor (rhEGF) on wound healing of chronic sinusitis patients after functional endoscopic sinus surgery. METHODS A total of 110 patients with chronic sinusitis underwent functional endoscopic sinus surgery with both sides of their nose. The right side of their nasal cavity (control group) treated by nasal irrigation and steroid nasal spray, the left side of their nasal cavity (study group) treated by nasal irrigation and the nasal spray of steroid hormones and rhEGF. Surgical effect was evaluated under nasal endoscope at 2, 4, 12 and 24 weeks after surgery, while subjective symptom was evaluated depending on visual analogue scale (VAS). Both the score of endoscopic examination and VAS, also the rates of epithelization of the two groups were compared. RESULTS The score of endoscopic examination of the study group at 2 weeks after surgery was better than that of the control group, which had statistical significance, while the score of VAS had no statistical difference. The score of endoscopic examination and VAS, the rate of epithelization in study group at 4 and 12 weeks after surgery were better than those in control group, and the difference was statistically significant, but they were no statistical difference at 24 weeks after surgery. CONCLUSION The using of rhEGF nasal spray on chronic sinusitis patients with functional endoscopic sinus surgery can shorten the time of epithelization, improve the situation of nasal mucosa and patients' subjective symptoms, it is worthy of clinical application.

Objective To report 2 cases of Fabry disease with early-onset ischemic stroke and investigate the clinical and image features. Methods The 2 patients developed dizziness, diplopia and progressive memory decline at 32 and 25 years of age respectively. The α-galactosidase A (GLA)activity was 4. 3 U in case 1 and 1. 0 U in case 2 ( normal range 100-500 U). Skin biopsy showed numerous membrane bounded osmiophilic laminar material in vascular smooth muscle cells and endothelial cells. GLA gene analysis revealed GLA exon 7 1033-1034 TC del in case 1 and GLA exon 3 466G ＞ A in case 2. The 2 patients were evaluated by Mainz severity score index (MSSI) and cranial MRI. Results The general MSSI was 32 in case 1 and 16 in case 2, with the highest score of neurological score ( 11 and 14). Both cases showed multifocal infarcts in bilateral cerebellum, occipital lobe, basal ganglia, which were hypointensity on T1 WI and hyperintensity on T2WI. There were hyperintensity changes in the pulvinar and basal ganglia on T1 WI in case 2. Conclusions Cerebral ischemic stroke could appear as initial symptoms in Fabry disease,which predominantly involved the posterior circulation. There might be no dilation of basal-vertebral artery.

ObjectiveTo report a novel HTRA1 gene mutation caused cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) with migraine,urinary retention and constipation.MethodsThe patient was a 34-year-old woman who suffered from myalgia with cramp for 16 years,lumbago for 5 years,migraine and mild alopecia for 3 years,right hemiparesis for 5 months,and urinary retention and constipation for 1 month.Vertebral MRI showed degeneration of vertebral bodies with disc herniations.Brain MRI revealed diffuse white matter lesions and lacunar infarcts.Sural nerve and skin biopsies were performed in the patient. HTRA1 gene analysis was performed in patient,her parents and 2 brothers,and Notch3 gene analysis in the patient.ResultsThe sural biopsy demonstrated discontinuous of elastica internal with thickness of intima of arterioles.The capillary basement membranes were thickness with mini granular changes.A homozygous T to A transition at position 524( c.524T ＞ A) was found in HTRA1 gene.The heterozygous c.524T ＞ A mutation appeared in the parents and 2 brothers,but not in the controls.Notch3 mutations were not found in the patient. Conclusion CARASIL caused by novel homozygous c.524T ＞ A mutation of HTRA1 gene can present with migraine,urinary retention and constipation.

Objective:To detect the effect of Celecoxib on the proliferation and apoptosis of human nasopha-ryngeal carcinoma cell line CNE-2. Method:The growth inhibition rate of CNE-2 by Celecoxib was evaluated with MTT method. Apoptosis related morphology changes were observed with transmission electron microscopy (TEM). The cell cycle and apoptosis were measured with flow cytometric method (FCM). Apoptotic index ( AI) was counted by the TDT-mediated dUTP-biotin nick end-labeling (TUNED assay. Result: The growth of CNE-2 cell was inhibited by celecoxib in a dose-and time-dependent manner. Apoptosis with nuclear chromatin condensa-tion, cell shrinkage, periplast loss and the formation of apoptotic bodies was observed with TEM. Apoptotic rates of CNE-2 cells treated with 80 and 100 μmol/L celecoxib were (10. 47±0. 18)% and (20. 17±0. 55)% respective-ly, significantly higher than those of the control group (1. 57±0. 27)% with FCM. The percentage of G_0/G_1 phase cells increased, whereas the S and G_2/M phases cells decreased in a dose-dependent manner after the treatment. TUNEL assay showed that the apoptosis ratio( AI) of CNE-2 treated with Celecoxib was higher than control group (P<0. 01). Conclusion:Celecoxib can inhibit the growth of human nasopharyngeal carcinoma cell line CNE-2 and induce the cell apoptosis, which may be related to blocking the cell cycle progress of CNE-2 cells.