1.Filaminopathy caused by a novel deletion-insertion mutation in filamin C gene
Daojun HONG ; Xinghua LUAN ; Riliang ZHENG ; Wei ZHANG ; Yun YUAN
Chinese Journal of Neurology 2009;42(11):758-761
Objective To report filaminopathy with novel insertion mutation in a Chinese family.Methods Total 19 patients from successive 5 generations involved in an autosomal dominant family. The detailed clinical manifestations had been described (Chinese Journal of Neurology, 2008, 41:751-755).The filamin C gene sequencing was performed in 3 patients, 5 family members without symptoms and 50 normal persons. The amplified fragments of the exon 18 in filamin C gene were cloned into pBluesripts vectors, then sequenced and identified with capillary electrophoresis. Results 18-nucleotide deletion and 6-nucleotide insertion were identified in the exon 18 of filamin C gene. The mutation caused the disturbance of the seventh immunoglobulin-like domain in filamin C, leading to the instability of dimmers of filamin C.Another 2 patients in the family had same mutation while 5 family members without symptoms and 50 normal controls were normal. Conclusion The novel nucleotide deletion-insertion in exon 18 of filamin C gene causes filaminopathy. This disease can appear in non-Nordic race.
2.Myofibrillar myopathy with cytoplasmatic.spheroid bodies: a report of a Chinese family
Xinghua LUAN ; Riliang ZHENG ; Bin CHEN ; Wei ZHANG ; Yun YUAN
Chinese Journal of Neurology 2008;41(11):751-755
Objective To report the clinical, myopathological and genetic features in myofibrillar myopathy (MFM) with numerous cytoplasmatic-spheroid bodies. Methods Ten patients in 5 successive generations began to present progressive proximal limbs weakness at 35 to 40 years old. Additionally, 4 cases manifested diarrhea and 6 cases accompanied with cardiorespiratory symptoms. An open biopsy was performed on the proband. In addition to histological, enzymhistochemical staining and ultrastructural examination, immunohistochemical staining with antibody against tau, desmin, ubiquitin, dysferlin, dystrophin-C', dystrophin-N' and dystrophin-R were done. All the exons of the MYOT, CRYAB, DESMIN, LDB3, LMNA, SEPNI gene and the FLNC exon 48 were analysed. Results Cytoplasmatic bodies and spheroid bodies were found in the fibers. The deposited material were positive for tau, desmin, ubiquitin, dysferlin and dystrophin-R, dystrophin-C'. Electron microscope showed granular dense Z-disc material in the inclusions which were surrounded by thin filament. There was no mutation in the above exons of the 7 candidate genes. Conclusions Myofibrillar myopathy involves multiple system impairment. Cytoplasmatic and spheroid bodies contain microtubule and membrane associated protein. The disease might be induced by some unknown genetic abnormities.
3.Pediatric intractable epilepsy surgery.
Yun-Lin LI ; Guo-Ming LUAN ; Jian ZHOU ; Ming BAO
Chinese Journal of Surgery 2008;46(3):210-212
OBJECTIVETo explore the strategy of pediatric intractable epilepsy surgery.
METHODSThe clinical data of 96 pediatric cases with intractable epilepsy and epilepsy syndromes underwent surgical treatment from April 2004 to April 2006 were retrospectively analyzed.
RESULTSThe surgical treatments were performed based on the results of comprehensive data from neurological, neurosurgical and pediatric departments. Among of them, 78 cases were performed with curative procedure, 17 cases with palliative procedure and 1 case with stereotactic damage procedure. The surgical effect was judged with Engel's standard, 58 cases had no seizure during 14 to 26 months follow-up, 26 cases had significantly improved in seizure control and the total efficiency was 87.5%. 81 cases had improvements in neuropsychological tests. 22 cases had postoperative complications such as neuro-dysfunctions and 15 cases were gradually recovered after the period of follow-up ended, 1 case died of CSF over drainage after operation 3 months.
CONCLUSIONSPediatric patients with symptomatic epilepsy and epilepsy syndromes are suitable to surgical treatment, the results are satisfactory in seizure control and neuropsychological function tests.
Adolescent ; Child ; Child, Preschool ; Epilepsy ; surgery ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Retrospective Studies ; Treatment Outcome
4.Pathologic and genetic features in 6 Chinese X-linked Charcot-Marie-Tooth disease type 1 families
Xinghua LUAN ; Xiaohui QIAO ; He LD ; Zhaoxia WANG ; Yuexing LI ; Yun YUAN
Chinese Journal of Neurology 2012;45(1):6-10
ObjectivesTo report pathological and genetic features of 6 Chinese families with Xlinked Charcot-Marie-Tooth disease type 1 ( CMTX1 ).Methods The index cases from 6 families with CMTX1 are males with onset of disease between 11 and 24 years old.All of them had distal leg muscle weakness,accompanied with areflexia and sensory loss in the feet.Additionally,the index 1 presented with recurrent encephalopathy and the index case 5 with cerebellar ataxia.Peripheral neuropathy was found in 12 family members,while other 7 members showed talipescavus and hyporeflexia.Sural nerve biopsies were performed in all index cases.Connexin 32(Cx32) gene was analyzed in the index cases,8 affected and 10unaffected family members as well as 50 healthy women control subjects.ResultsMild to moderate loss of myelinated fiber with axonal degeneration and regeneration clusters were found in all index cases. Thin myelin fibers were found in 5,small onion bulbs in 3 and inflammatory infiltrates in 2.Five novel mutations (I20T,I127F,D178G,A197V,403_404insT) and one L10L synonymous mutation were detected in the 6index cases and their affected family members.The same mutations,in heterozygous state,were detected in 4 female family members without clinical symptoms,but not found in 6 male unaffected family members.The same mutations were not found in healthy control subjects.ConclusionsThe CMTX1 patients in our study present predominantly axonal lesions.Frequent novel Cx32 gene mutations indicated that private mutations may be common in Chinese CMTX1 patients.
5.Research on effects of bone marrow mononuclear cells implantation on model of experimental pulmonary artery hypertension.
Yan LU ; Zhaohua ZHANG ; Guanghui CHENG ; Yun LUAN
Journal of Biomedical Engineering 2013;30(3):601-606
In the present study, we carried out intratracheal administration of bone marrow-derived mononuclear cells (BM-MNCs) to dehydromonocrotaline (DMCT)-induced canine pulmonary artery hypertension (PH) of rat model to examine the security and feasibility, and the aim was to discuss the mechanism. All animals (n=30) were randomly divided into 3 groups (n=10 in each group), i. e. control group, PH group and BM-MNCs group. Six weeks after the transplantation, the hemodynamic data and right ventricle weight ratio were significantly improved for those in BM-MNCs group compared with those in PH group. The lung mRNA levels of vascular endothelial growth factor (VEGF) were higher, while preproendothelin-1 (ppET-1), interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-alpha) were lower compared with those in the PH group (P<0. 05). Immunofluorescence and histochemical results confirmed that 6 weeks after the administration, transplanted BM-MNCs were still alive and could differentiate into pulmonary vascular endothelial cells. These results showed that intratracheal administration of BM-MNCs could obviously reduce or even reverse the DMCT induction of PAH process. The mechanism could be explained as that the function was mainly through the paracrine effect to promote renewable and reduce inflammation.
Animals
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Bone Marrow Cells
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cytology
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Cell Transplantation
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methods
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Dogs
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Familial Primary Pulmonary Hypertension
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Female
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Hypertension, Pulmonary
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chemically induced
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therapy
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Leukocytes, Mononuclear
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transplantation
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Male
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Monocrotaline
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analogs & derivatives
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Rats
6.Transient white matter lesions in X-linked Charcot-Marie-Tooth disease type 1 with novel I20T mutation of gap junction protein beta 1 gene
Xinghua LUAN ; Bin CHEN ; Riliang ZHENG ; Wei ZHANG ; Zhaoxia WANG ; Yun YUAN
Chinese Journal of Neurology 2009;42(4):241-244
Objective To describe the clinical, radiological and genetic features in a family with X-linked Charot-Marie-Tooth disease type 1 (CMT1X) with transient white matter lesions.Methods The proband is a 14-year-old boy who presented transient and recurrent dysarthria, mild numbness and weakness of the limbs for 2 years and 5 months.Later he developed leg weakness.His mother only presented pes cavus.MRI, electrophysiology and nerve biopsy were performed in the proband.Gap junction protein beta 1 (GJB1) gene was analyzed by PCR-sequencing on the proband, his parents and 50 non-illness control women.Results Electremyography showed marked reduced amplitude of the distal compound muscle action potentials and mild decrease of conduction velocities.MRI showed bilateral white matter lesions in centrum semiovale and corpus callnsum, which improved significantly after 6 months.Pathological examination revealed chronic axonal neuropathy and widened Schmidt-Lanterman incisures of myelinated fibers.I20T mutation in GJB1 gene was detected in the proband and his mother, but not in non-illness control women and his father.Conclusions Novel 120T mutation of GJBI maybe could result in CMT1X with predominant recurrent leucocncephalopathy.The white matter changes in MRI are reversibility.
7.A novel mutation of SI2F in desmin causing desminopathy: a family report
Daojun HONG ; Xinghua LUAN ; Wei ZHANG ; Bin CHEN ; Lei FENG ; Zhaoxia WANG ; Yun YUAN
Chinese Journal of Neurology 2009;42(10):682-685
Objective To report clinical and pathological features in a Chinese family with desminopathy caused by a novel mutation in desmin gene. Methods There were 8 patients (7 male and 1 female) in a family manifesting desminopathy in an autosomal dominant inheritance pattern. The onset age ranged from 20--50 years old. Heart disease appeared in 7 cases, diarrhea in 1 case and limb weakness in 3 patients. Muscle biopsies were carried out in proband and his elder brother. The histological, enzymhistochemicai staining, ultrastructural examination and immunohistochemical staining with desmin antibody were performed. The sequence of desmin gene was analyzed in DNA from 4 patients, 5 asymptomatic members and 50 healthy controls. Results Muscle pathology in the proband revealed wide variation in size of fibers. Some fibers had eosinophilic changes with rimmed vacuoles. Muscle pathology in the brother revealed multiple small and round eosinophilic inclusions in the fibers. Desmin staining was positive in the inclusions and in the sarcolemma. Electron microscopy revealed deposits of abnormal granulofilamentous materials. A novel S12F mutation in desmin gene has been identified in 4 affected family individuals, but not in unaffected family members and controls. Conclusions The desminopathy caused by desmiu SI2F mutation dominantly affected male individuals. Most of victims had cardiac abnormalities. The myopatholgical features can vary in the different patients in one family.
8.Protective effect of quercetin on in vitro cardiomyocyte injury induced by hydrogen peroxide
Lei YANG ; Qingbang GUO ; Yan LU ; Hailong ZHANG ; Yi LIU ; Yun LUAN
Chinese Journal of Tissue Engineering Research 2006;10(3):60-62
BACKGROUND: Cerebral infarction is commonly associated with blood stasis syndrome. Abnormal alternation of blood rheology is generally manifested as increased blood viscosity and hematocrit (HCT). In isometric hemodilution, a certain amount of red blood cell (RBC) is shifted by bleeding and simultaneously, isometric diluter is supplemented to reduce whole blood viscosity.OBJECTIVE: To observe the improvement of astragalus injection, the Chinese herb for qi tonification and isometric hemodilution on blood rheology in blood stasis syndrome of cerebral infarction.DESIGN: Randomized controlled experiment and case-control analysis were designed.SETTING: Union Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology. PARTICIPANTS: In cerebral infarction group (infarction group), 64 inpatients of senile ischemic cerebral vascular disease were collected from Union Hospital Affiliated to Huazhong University of Science and Technology from March 2002 to March 2004. Al l of cases were aged over 60 years and were in conformity with the diagnostic criteria on blood stasis syndrome. According to random number table, routine treatment group (routine group) and the group of integrative therapy of Chinese and western medicine (experimental group) were divided, 32 cases in each one. 47 healthy people of similar age and diagnosed with routine physical examination were selected in normal control. METHODS: In routine group, cerebral infarction was treated with routine therapy, including extending capacity, reducing viscosity, resisting coagulation, blocking aggregation of platelet and dehydration and general symp tomatic supporting treatment. In experimental group, on basis of routine treatment, isometric hemodilution and astragalus injection, the Chinese herb for qi tonification were used. 10% of total blood amount (about 450-650 mL) was collected from vein, and colloid solution of same volume was injected intravenously. The treatment was applied once every 5 days, continuously for 3 times. Astragalus injection 50 mL mixed with physical saline 250 mL was intravenous dropped, once per day, continuously for 3 weeks. MAIN OUTCOME MEASURES: ① Comparison of indexes in bloodrheology before and after treatment in routine group and experimental group. ② Comparison of indexes in blood rheology between normal control and infarction group. RESULTS: According to intention management, 64 patients and 47 normal persons all entered result analysis. ① Comparison between infarction group and normal control: RVB, HCT and PFC (fibrinogen) were higher than normal control [(3.90±0.73), (3.40±0.28) mPa·s; (46.39±6.03) %,(42.61±2.91)%; (3.25±0.75), (3.08±0.46) g/L, P < 0.01, 0.05], MTIE (de formity index of RBC) was lower than normal control (0.958±0.006, 0.961 Shen H,Lu YD.Study on quantitative messurement of immunohistochemical ±0.004, P < 0.05). ② Comparison between routine group and experimental group: Difference in some indexes presented before the treatment. After treatment, RVB, HCT and PFC in experimental grou p were all lower than routine group [(3.90±0.52), (4.21±0.68) mPa·s; (43.80±3.29)%, (48.47±4.50)%; (3.31±0.60), (3.68±0.67) g/L, P < 0.01, 0.05]. CONCLUSION: Isometric hemodilution therapy and astragalus injection reduces blood viscosity, improves blood rheology and alleviates clinical svmptoms of blood stasis syndrome in senile cerebral infarction.
9.Phenotypic and genotypic studies in 6 Chinese Han families with oculopharyngeal muscular dystrophy
Bin CHEN ; Zhaoxia WANG ; Xinghua LUAN ; Daojun HONG ; Wei ZHANG ; Yun YUAN
Chinese Journal of Neurology 2010;43(10):702-706
Objective To explore phenotypes and genotypes in 6 Chinese Han families with oculopharyngeal muscular dystrophy (OPMD).Methods There were 28 OPMD patients in 6 Chinese Han families, aged between 32 and 70 years old.The initial symptom was dysphagia in 13 patients, ptosis in 4 patients,lower limb weakness in 1 patient.Most OPMD patients displayed dysphagia and ptosis in 3-20 years after the initial symptom appeared.Biceps brachii biopsies were made in the 6 OPMD probands.The specimens were examined with histological, histochemical stainings and ultrastructural examination.The exon 1 of PABPN1 gene was sequenced in all probands of OPMD and some of their family members.Haplotype analysis was executed in the 6OPMD probands.Results Mild hypertrophy and hypotrophy of fibers and rimmed vacuoles were found in each probands of OPMD muscle biopsies.Intranuclear palisading filamentous inclusions only appeared in 4OPMD probands.Gene analysis identified (GCG)9 in exon 1 of PA BPN 1 gene was detected in 3OPMD families, while (GCG) 6 (GCA) 1 (GCG) 3, (GCG) 10 and (GCG) 8were in one family respectively.Two families with (GCG) 9 expansion shared a common rs2239579 (C) -(GCG) 9-SNP2622 (C) haplotype.Conclusions Dysphagia and ptosis may be the common initial symptoms in Chinese Han OPMD patients.Rimmed vacuoles and intranuclear inclusions may be the common pathological feature in the muscle fibers.Both (GCG) expansions and (GCA) insertion of PABPN1 gene could be detected in Chinese patients.The genetic heterogeneity and the haplotype of three (GCG)9 families in our patients indicate that OPMD arises from different origin within the Han population.Some families with the same (GCG)9 expansions probably come from a common ancestor.
10.Analysis on the clinical characters of optic neuritis caused by antituberculosis drugs
Yi-Luan, JIAN ; Zuo-Yun, GU ; Lin, WEI ; Yan-Bin, ZHANG
International Eye Science 2014;(9):1705-1706
To summarize the clinical characters of optic neuritis caused by antituberculosis drugs, and to discuss the prevention countermeasures.
● METHODS: The clinical characters of optic neuritis caused by antituberculosis drugs among those outpatients and ward patients from January 2003 to January 2013 were reviewed and analyzed.
● RESULTS: Optic neuritis caused by antituberculosis drugs was rare ( 17 / 60000 ), while retrobulbar neuritis was common. The drugs inducing optical neuritis were mainly ethambutol, followed by isoniazid and streptomycin. The vision of patients would have different degrees of improvement via the following treatment after specific diagnosis, i. e. , timely stopping the tuberculosis medicine associated with optic neuritis, and taking vitamin supplements, dilating blood vessels and applying hormone therapy according to the illness.
●CONCLUSlON: We should pay attention to the change of the vision of patients during the usage of antituberculosis drugs. ln the case of sudden eyesight deterioration, ophthalmology examination and timely treatment are advised preventing blindness.