Objective To explore clinic,imageology and pathological characteristics of twin brothers with adrenoleukodystrophy(ADL).Methods Clinical data of twin brothers with ALD and pathological data of one case were analyzed retrospectively.Results Clinical manitestation of elder brother was cerebral ADL,T1-weighted of MRI with low intensity lesion and T2-weighted with high intensity lesion were shown widely in the parietooccipital and postero-corpus callosum white matter.The pathological changes were myelinopothy diffused in the parietooccipital white matter,but U fibber was maintained in the subcortex.Clinical manitestation of the young brother was shown spinal damage.His cerebral MRI was normal.Spinal MRI had shown spinal cord thinning,line-like equal signal was found in the periphery of the lesion.He might be juvenile adrenomyeloneuropathy.Conclusions Although the twin brothers are both suffer from adrenoleukodystrophy,their clinical manifestation,MRI and pathological changes are different.

Objective To identify the clinical characteristic of familial Creutzfeldt-Jakob disease(fCJD) in one pedigree with four cases in two-generation and to investigate its pathogenetic mechanism.Methods The pedigree was investigated in the fCJD kindred,protein capture assay was used to do quantitative analysis of 14-3-3 protein in the cerebrospinal fluid.Types of PrP gene mutation were studied by polymerase chain reaction(PCR) and DNA sequence analysis.Results(1) The onset age during four cases in two-generation was lower than the sporadic CJD and it tended to go down by generations.(2) The 14-3-3 protein level in the index case's cerebrospinal fluid was 125 ng/ml,which was higher than intersection point by 13.9 times.(3) In the index case,inserting mutation in site 231 of PRNP was induced by an adenine insertion between base 788 and 789.(4) No PrP gene mutation was found in the index case's younger brother and daughter.Conclusions The fCJD is identified in the index case,which is caused by inserting mutation in the site 231 of PRNP.There is no significant difference in the clinical manifestations between fCJD and sporadic CJD.However,the onset age of fCJD is lower than the sporadic CJD and patients from the same pedigree die at familiar ages.

Objective 　To investigate the neuropathological changes of central nervous system in Guillain-Barré syndrom. Methods　Brain, spinal cord and sciatic nerve were obtained from 22 cases of Guillain-Barré syndrome. Eight cases were examined by general autopsy, 14 cases were examined by limited autopsy. HE, KB, Bielschowsky, Weil and Sudan Ⅲ　staining were carried out, the sections were observed by light microscopy. Results　1.Cerebral superficial veins congested, widening of the cortical sulci, narrowed gyri and mild cerebellar tonsillar hernia were present. 2. Majority of cerbral neurons presented an ischemic changes. Slightly loss of hippocampal pyramidal neurons were found. There was chromatolysis of motor neurons of brain stem. Lymphocytic infiltration around the small vessels occurred in the pons and medullary oblongata in 8 cases. Focal demyelination was noted in pons and frontal white matter in 2 cases. Loss of Purkinje cells and appearance of glial nodules were observed in molecular layer of cerebellum. 3. Swellin, central chromatolysis and eccentric nuclei of anterior horn cells appeared in 16 cases, which were pronounced in cervical and lumbal segment of spinal cord. Vaculated neuroplasma and lymphacytic infiltrition could be seen. 4. Segmental demyelination and lymphocytic infiltration were the main neuropathological changes observed in 20 cases. There were two other cases in which the axon were severely involved, which showed swelling and breakdown of axons and as well as axonal bulbs. Conclusions　1. Lymphocytic infiltration in brain stem and spinal cord were in continuousness of pathological changes of peripheral nerves. 2. Finding of glial nodules suggested that there was possibility of infection of neurotropic virus. 3. Occurence of focal demyelination in cerebrum and brain stem indicated that Guillain-Barré syndrome may have combined involvement of central and peripheral nervous system.

BACKGROUND: Pathological changes of the brain tissue in patients with dementia of frontal type(DFT) are still controversial. This paper brought forward the pathological alterative characteristics of brain tissue in DFT patients through one pathological case study of the brain tissue in one dead dementia patient.OBJECTIVE: To validate one uncommon neurodegenerative disease complicated with dementia, DFT.DESIGN: A case analysis.SETTING: Department of Neurology of the First Hospital of Jilin University METHODS: Brain anatomy, serials of histological staining and immunohistochemical staining for PrP, tau protein, etc. were performed after 3 hours since the death of one patient with progressive dementia.stainingfrontal lobes. EEG displayed a paroxysmal high-amplitude slow wave with and the brain atrophy was limited to frontal lobe and the temporal lobe loss of neurocyte companied with significant gliosis since the second layer; However, the pyramidal cell was relatively healthy. No abnormality was munohistochemical staining had negative reactions.CONCLUSION: This case was typical DFT. This type of dementia should be considered in future analysis of the neurodegenerative disease complicated with dementia.

Objective To detect point mutations of the PRNP in 10 sporadic Creutzfeldt-Jakob disease (CJD) patients. Methods Priori protein gene open reading frame was amplified by PCR of genomic DNA extracted from peripheral blood leukocytes. Products were sequenced and digested with restriction endonuc lease Nsp I to check the phenotype at codon 129. Results Two CJD patients were confirmed at autopsy. One full sequencing of the PRNP open reading frame revealed normal, but the other revealed a single novel mutation consisting of a cytosine-to-guanine substitution at nucleotide 729, causing asparagine to replace glutamic acid at codon 211. Among 8 probable CJD patients, 2 full sequencing of the PRNP open reading frame revealed anadenine-to-guanine substitution at nucleotide 751, causing lysine to replace glutamic acid at codon 219. The patients were methionine homozygosity at codon 129. Conclusions The E211D mutation was identified in a confirmed CJD patient. The novel point mutation might be associated with familial CJD. However, E219K identified in 2 possible CJD patients was included in polymorphism of the PRNP as well as M129V. Analysis of PRNP plays an important role for diagnose of familial priori disease.

Objective To study the MRI findings of sporadic Creutzfeldt-Jakob disease and its clinical relations. Methods MRI of 10 cases CJD patients were examined 2-12 months after the onset. 6 cases were diagnosed using cerebral biopsy, 8 cases received CSF analysis for 14-3-3 protein, 8 cases showed special changes of electroencephalogram, PrP gene of 9 cases were analyzed. Results Symmetric bilateral high signals were observed in caudate nucleus and Putamen in T 2-weighted imaging and Flair imaging in 5 cases, but the pallidum and thalamus were normal. No changes were found in T1-weighted imaging. 2 cases showed brain atrophy, 1 case showed mild lacunar infarction,and the other 2 were normal. Conclusions Abnormal signals in basal ganglia of 4 patients of 129Met/Met homozygote occurred after 2.5 months averagely, they survived for 10.5 months at average. 1 patient of 129 Met/Val heterozygote showed abnormal signals in basal ganglia after 12 months, and survived for 16 months. The mean duration of patient with abnormal signals in basal ganglia (12.2 months) is longer than those without changes in basal ganglia (5.5 months). Symmetric high signal in bilateral caudate nucleus and Putamen is an important imaging feature of sCJD. It might be served as a diagnostic index in some circumstances.

Objective To explore the expression levels of immune-related microRNA-146b (miR-146b),microRNA-155 (miR-155) and microRNA-30b(miR-30b) in human breast milk and its relationship with maternal and infant's health.Methods One hundred and thirty-four mothers and their infants from obstetrical department were recruited in the study after delivery.The subjects were divided into 2 groups,breast feeding group(n =86) and formula-feeding group(n =48),and were followed up 3 months after delivery.Breast milk samples were collected at 2-5 days after delivery(colostrum) and 3 months after delivery(mature milk).The expression levels of microRNAs in milk samples were detected by real-time PCR.The relationship between levels of microRNAs and maternal and infant-related factors was analyzed.Results 1.MiR-146b,miR-155 and miR-30b expressions were abundant both in human colostrums (5.950 ± 0.823,3.899 ± 0.920,4.057 ± 0.604) and mature milk (4.840 ± 0.805,2.128 ± 0.969,4.929 ± 0.566).The levels of miR-146b and miR-155 were higher in colostrum than that of mature milk (t =7.716,10.215,all P ＜ 0.01),while the level of miR-30b was higher in mature milk than that of colostrums(t =-8.626,P ＜ 0.0l).2.Additionally,the level of miR-30b was negatively correlated with maternal pre-pregnancy body mass index (r =-0.298,P ＜ 0.01).3.The levels of miR-146b and miR-30b were higher in mothers giving birth by vaginal delivery than those who underwent cesarean section(t =2.356,3.108,all P ＜0.05).4.The levels of miR-146b and miR-155 were higher in colostrum-fed girls than boys (t =-2.204,-2.985,all P ＜ 0.05).5.The level of miR-146b in mature milk was negatively correlated with 3-month-old infant' s Z score of body weight (r =-0.425,P ＜ 0.05) and body length (r =-0.569,P ＜ 0.01).6.During follow-up,the incidence of baby eczema in breast feeding group (8.82％,3/34 cases) was lower than that in formula milk feeding group(29.17％,14/48 cases) (x2 =5.012,P =0.025).Conclusions The levels of immunocompetent microRNAs in human milk are influenced by the lactation period,maternal prepregnancy body mass index,mode of delivery and infant sex.The immune-related microRNAs in human milk could be involved in the regulation of infant's immunity and growth.

Objective　To introduce the management experience in the first cause of living-related small bowel transplantation in China. Methods　An 18-year-old male patient with short gut syndrome received a living-related small bowel transplantation with the graft taken from his father(44-year-old). A segment of 150?!cm distal ileum was resected from the donor. Treatment of immunosuppression, antibiotics, antithrombosis and nutrition support were given posttransplantatively. Results　Recently the recipient has a good life quality for 19 months. Conclusions　Living-related small bowel trnasplantation can be effectively used to treat short gut syndrome, and the posttransplantative management is the key to the successful transplantation.

Objective To introduce the management experience in the first cause of living related small bowel transplantation in China. Methods An 18 year old male patient with short gut syndrome received a living related small bowel transplantation with the graft taken from his father(44 year old). A segment of 150?cm distal ileum was resected from the donor. Treatment of immunosuppression, antibiotics, antithrombosis and nutrition support were given posttransplantatively. Results Recently the recipient has a good life quality for 19 months. Conclusions Living related small bowel trnasplantation can be effectively used to treat short gut syndrome, and the posttransplantative management is the key to the successful transplantation.

Objective To summarize the incidence of cardiac allograft vasculopathy (CAV) after heart transplantation and the effect on the long-term survival of recipients. Methods Clinical data of 1 006 heart transplant recipients were retrospectively analyzed. Of 48 CAV patients, 4 cases were not included in this analysis due to lack of imaging evidence. A total of 1 002 recipients were divided into the CAV group (n=44) and non-CAV group (n=958) according to the incidence of CAV. The incidence of CAV was summarized. Clinical data of all patients were statistically compared between two groups. Imaging diagnosis, coronary artery disease, drug treatment and complications, postoperative survival and causes of death of CAV patients were analyzed. Results Among 1 006 heart transplant recipients, 48 cases (4.77%) developed CAV. Compared with the non-CAV group, the proportion of preoperative smoking history, preoperative hypertension history, coronary artery disease and perioperative infection was significantly higher in the CAV group (all P < 0.05). Among 44 patients diagnosed with CAV by imaging examination, 24 cases were diagnosed with CAV by coronary CT angiography (CTA), 4 cases by coronary angiography (CAG), and 16 cases by coronary CTA combined with CAG. Among 44 patients, the proportion of grade Ⅰ CAV was 45% (20/44), 30% (13/44) for grade Ⅱ CAV and 25% (11/44) for grade Ⅲ CAV, respectively. All patients received long-term use of statins after operation, and 20 patients were given with antiplatelet drugs. Among 44 CAV patients, 11 patients underwent percutaneous coronary intervention, 6 cases received repeated heart transplantation, and 8 patients died. Kaplan-Meier survival analysis demonstrated that there was no significant difference in the long-term survival rate between the CAV and non-CAV groups (P > 0.05), whereas the survival rate of patients tended to decline after the diagnosis of CAV (at postoperative 6-7 years). The long-term survival rates of patients with grade Ⅰ, grade Ⅱ and grade Ⅲ CAV showed no significant difference (P > 0.05). Even for patients with grade Ⅰ CAV, the long-term survival rate tended to decline. Conclusions CAV is a common and intractable complication following heart transplantation, and the long-term survival rate of patients after the diagnosis of CAV tended to decline. Deepening understanding of CAV, prompt prevention, diagnosis and treatment should be delivered to improve the long-term survival rate of patients after heart transplantation.