Objective: To explore the value of magnetic resonance imaging (MRI) in diagnosis of occupying lesions in cerebellopontine angle area. Methods: MRI records of 78 patients with pathologically confirmed occupied lesi...Objective: To explore the value of magnetic resonance imaging (MRI) in diagnosis of occupying lesions in cerebellopontine angle area. Methods: MRI records of 78 patients with pathologically confirmed occupied lesions in cerebellopontine angle area were analyzed. Results: Of the 78 cases, 48 (61.5%) were unilateral acoustic neuroma, 5 (6.4%) were bilateral acoustic neuroma, 12 (15.4%) were meningioma, 4 (5.1%) were trigeminal neuroma, 3 (3.8%) were lipoma, 2 (2.6%) were melanoma, and 1 (1.3%) was medulloblastoma. According to the anatomic site, tumor lesion character, and MRI signal, the majority of cerebellopontine angle area tumors were diagnosed accurately. Conclusion: MRI plays an important role in diagnosis of occupying lesions in cerebellopontine angle area.展开更多
In order to classify the minimal hepatic encephalopathy (MHE) patients from healthy controls, the independent component analysis (ICA) is used to generate the default mode network (DMN) from resting-state functi...In order to classify the minimal hepatic encephalopathy (MHE) patients from healthy controls, the independent component analysis (ICA) is used to generate the default mode network (DMN) from resting-state functional magnetic resonance imaging (fMRI). Then a Bayesian voxel- wised method, graphical-model-based multivariate analysis (GAMMA), is used to explore the associations between abnormal functional integration within DMN and clinical variable. Without any prior knowledge, five machine learning methods, namely, support vector machines (SVMs), classification and regression trees ( CART ), logistic regression, the Bayesian network, and C4.5, are applied to the classification. The functional integration patterns were alternative within DMN, which have the power to predict MHE with an accuracy of 98%. The GAMMA method generating functional integration patterns within DMN can become a simple, objective, and common imaging biomarker for detecting MIIE and can serve as a supplement to the existing diagnostic methods.展开更多
Objective: To observe the magnetic resonance imaging (MRI) morphological features of radiation encephalopathy (REP) in nasopharyngeal carcinoma (NPC) and investigate their diagnostic value. Methods: The MRI da...Objective: To observe the magnetic resonance imaging (MRI) morphological features of radiation encephalopathy (REP) in nasopharyngeal carcinoma (NPC) and investigate their diagnostic value. Methods: The MRI data of 160 lesions from 104 NPC patients with the diagnosis of temporal lobe REP were retrospectively analyzed. The MRI was performed after radiation therapy of NPC with an interval ranged from 8 months to 13 years. The imaging sequences included T1-weighted imaging and T2-weighted imaging. Additionally T1-weighted imaging with injection of the contrast agent of Gd-DTPA was performed in 111 lesions and fluid attenuated inversion recovery (FLAIR) was performed on 37 lesions, and among them, 2 cases were subjected to MR perfusion weighted imaging (PWI). Results: Unilateral temporal lobe was involved in 48 cases of REP, bilateral temporal lobe in 56 cases of REP respectively, with a total of 160 lesions. The REP in the white matter displayed hyper-intensity signal on T2-weighted imaging which could be homogenous, whereas areas with heterogeneous hypo-intensity signal could be seen in 59 of them otherwise with hyper-intensity signal, and 91 lesions of white matter were associated with gray matter lesions with an appearance of hypo-intensity signal on T1-weighted imaging and hyper-intensity signal on T2-weighted imaging. In 111 lesions with the Gd-DTPA enhanced T1-weigthed imaging, 91 showed the enhancement of brain parenchyma. Hemorrhage and hemosiderosis occurred in 5 lesions of REP. Conclusion: REP in NPC has a multiplicity of the imaging features on MRI, in addition to the common involvement of white matter, including other relatively frequent findings, such as the involvement of gray matter, hemorrhage, hemosiderosis and blood-brain barrier destruction, those could be clearly revealed on MRI.展开更多
Objective Machado-Joseph disease (MJD)/Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by an expansion of polyglutamine tract near the C-terminus of the MJD1 gene pr...Objective Machado-Joseph disease (MJD)/Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by an expansion of polyglutamine tract near the C-terminus of the MJD1 gene product, ataxin-3. The precise mechanism of the MJD/SCA3 pathogenesis remains unclear. A growing body of evidence demonstrates that phosphorylation plays an important role in the pathogenesis of many neurodegenerative diseases. However, few kinases are known to phosphorylate ataxin-3. The present study is to explore whether ataxin-3 is a substrate of casein kinase 2 (CK2). Methods The interaction between ataxin-3 and CK2 was identified by glutathione S-transferase (GST) pull-down assay and co-immunoprecipition assay. The phosphorylation of ataxin-3 by CK2 was measured by in vitro phosphorylation assays. Results (1) Both wild type and expanded ataxin-3 interacted with CK2α and CK2β in vitro. (2) In 293 cells, both wild type and expanded ataxin-3 interacted with CK2β, but not CK2α. (3) CK2 phosphorylated wild type and expanded ataxin-3. Conclusion Ataxin-3 is a substrate of protein kinase CK2.展开更多
Imaging technologies are utilized to study the brain morphology and the functions of rat models of Parkinson disease (PD). Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) are used to ob...Imaging technologies are utilized to study the brain morphology and the functions of rat models of Parkinson disease (PD). Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) are used to obtain morphological imaging data. Functional imaging data, such as the spectrum and blood flow changes are obtained by proton magnetic resonance spectroscopy (1H-MRS) and CT perfusion (CTP). Results show that PD rat models have no characteristic morphological imaging abnormalities, but exist regional cerebral blood flow (CBF) reductions and spectral changes in the striatum.展开更多
Objective: To investigate the treatment effectiveness and side effects of stereotactic radiotherapy for brain glioma. Methods: From Jun. 1995 to Dec. 1998, 389 cases of brain gliomas were treated by stereotactic rad...Objective: To investigate the treatment effectiveness and side effects of stereotactic radiotherapy for brain glioma. Methods: From Jun. 1995 to Dec. 1998, 389 cases of brain gliomas were treated by stereotactic radiotherapy, among which 151 cases were treated by stereotactic radiosurgery (SRS) and the other 238 cases, by fractionated stereotactic radiotherapy (FSRT). In the SRS group, the marginal tumor dose was 20 to 30 Gy (median, 2.6 Gy). One to 6 isocenters (median, 2.48) and 5 to 21 irradiation arcs (median, 8.45) were applied. In the FSRT group, the per-fraction marginal tumor dose was 8 to 12 Gy with 1 to 6 isocenters (median, 2.53), 6 to 20 irradiation arcs (median, 8.25) and 2-5 fractions delivered everyday or every other day. Results: Three months after treatment, the complete and partial response rates were 13.9% and 45.7% in SRS group respectively. The stable disease rate was 17.2%. The total effective rate was 76.8%. In FSRT group, the complete and partial remission rates were 19.7% and 47.9% respectively. The stable disease rate was 20.6%. The total effective rate was 88.2%. The total effective rate of FSRT group was higher than that in SRS group (X^2=9.874, P=0.020). The 1-year, 3-year and 5-year survival rate of all patients was 54.3%, 29.3%, 16.5% respectively. The 1-year, 3-year and 5-year survival rate in SRS group and FSRT group was 52.3% vs 26.5%, 11.9% vs 55.5%, and 31.1 vs 19.3% respectively. There was no significant difference between the two groups (X^2=2.16, P=0.1417). The brain edema caused by the main radiation was more severe in the SRS group than in FSRT group (X^2=4.916, P=0.027). Conclusion: It is effective for brain glioma to be treated by stereotactic radiotherapy. Compared with SRS, the FSRT has the advantage of good effect and less side response.展开更多
Objective:To evaluate the diagnostic potential of cerebrospmal fluid (CSF) levels of β-amyloid protein (Aβ) as biochemical marker for senile dementia in clinical practice. Methods : Sensitive enzyme-linked immunosor...Objective:To evaluate the diagnostic potential of cerebrospmal fluid (CSF) levels of β-amyloid protein (Aβ) as biochemical marker for senile dementia in clinical practice. Methods : Sensitive enzyme-linked immunosorbent assay (ELISA) was performed in our lalxrratory to delect the CSF levels of Aβt-40, Aβ1-42 in 54 patients with Alzlteimer's disease (AD), and 30 normal controls (NC). Results: The cut off value of Aβ ratio and Aβ1-42 concentration in NC group provided 54. 51%, 90. 00% sensitivity and 81. 25%, 84. 38% specificity respectively in diagnosis of AD. Conclusion : AD group had a significant decreased level of Aβ1-42 and an increased level of Aβ ratio, compared with NC group.展开更多
Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q ...Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q tel with 3-cM. The purpose of this study was to narrow down the genetical distance on chromosomal 22q tel with MLC. Methods: Thirty-nine MLC patients in 33 families were collected,and the linkage analysis and haplotype analysis of twelve informative families were done, using seven microsatellite markers and four SNP markers. Results: The maximum tow-point LOD score for marker 355c18 was 6.65 at recombination fraction 0.02. The haplotype analysis narrowed down the critical region of MLC to 250 kb on chromosomal 22q tel. Conclusion: One of the causing genes of MLC was located on chromosomal 22q tel with 250 kb. Four candidate genes were considered. The heterogeneity of one informative family indicated possible existence of a second locus for MLC.展开更多
Minimal hepatic encephalopathy is a neuro-cognitive dysfunction which occurs in an epidemic proportion of cirrhotic patients,estimated as high as 80% of the population tested. It is characterized by a specific,complex...Minimal hepatic encephalopathy is a neuro-cognitive dysfunction which occurs in an epidemic proportion of cirrhotic patients,estimated as high as 80% of the population tested. It is characterized by a specific,complex cognitive dysfunction which is independent of sleep dysfunction or problems with overall intelligence. Although named "minimal",minimal hepatic encephalopathy(MHE) can have a far-reaching impact on quality of life,ability to function in daily life and progression to overt hepatic encephalopathy. Importantly,MHE has a profound negative impact on the ability to drive a car and may be a significant factor behind motor vehicle accidents. A crucial aspect of the clinical care of MHE patients is their driving history,which is often ignored in routine care and can add a vital dimension to the overall disease assessment. Driving history should be an integral part of care in patients with MHE. The lack of specific signs and symptoms,the preserved communication skills and lack of insight make MHE a difficult condition to diagnose. Diagnostic strategies for MHE abound,but are usually limited by financial,normative or time constraints. Recent studies into the inhibitory control and critical flicker frequency tests are encouraging since these tests can increase the rates of MHE diagnosis without requiring a psychologist. Although testing for MHE and subsequent therapy is not standard of care at this time,it is important to consider this in cirrhotics in order to improve their ability to live their life to the fullest.展开更多
AIM: To investigate clinical characteristics and therapy of pancreatic encephalopathy (PE) and Wernicke encephalopathy (WE). METHODS: In a retrospective study of 596 patients with acute pancreatitis (AP), pati...AIM: To investigate clinical characteristics and therapy of pancreatic encephalopathy (PE) and Wernicke encephalopathy (WE). METHODS: In a retrospective study of 596 patients with acute pancreatitis (AP), patients with PE were compared to those with WE in regards to history, clinical manifestation, diagnosis, treatment and outcome. RESULTS: There were 93 patients with severe acute pancreatitis (SAP). Encephalopathies were discovered in 10 patients (1.7%). Six patients with PE all developed in SAP (6.5%), and three of them died (3% of SAP, 50% of PE). Four patients with WE developed in AP (0.7%), and two of them died (0.3% of AP, 50% of WE). Two patients with WE were treated with parenteral thiamine and survived. Global confusions were seen in all patients with encephalopathy. Ocular abnormalities were found. Conjugate gaze palsies were seen in 1 of 6 (16.7%) patients with PE. Of 4 patients with WE, one (25%) had conjugate gaze palsies, two (50%) had horizontal nystagmus, three (75%) had diplopia, and one (25%) had myosis. Ataxia was not seen in all patients. None of patients with WE presented with the classic clinical triad. CSF examinations for 2 patients with WE showed lightlyincreased proteins and glucose. CT and MRI of the brain had no evidence of characteristic abnormalities. CONCLUSION: PE occurs in early or reiteration stage of SAP, and WE in restoration stage of SAP/AP. Ocular abnormalities are the hallmarks of WE, and horizontal nystagmus is common. It is difficult to diagnose earlier an encephalopathy as PE or WE, as well as differentiate one from the other. Long fasting, hyperemesis and total enteral nutrition (TPN) without thiamine are main causes of thiamine deficiency in the course of pancreatitis.展开更多
AIM: To investigate the relationship between H pylori infection, blood ammonia concentration and hepatic encephalopathy (HE), and the effect of Hpylori eradication in cirrhotic patients. METHODS: From July 2003 to...AIM: To investigate the relationship between H pylori infection, blood ammonia concentration and hepatic encephalopathy (HE), and the effect of Hpylori eradication in cirrhotic patients. METHODS: From July 2003 to January 2005, 457 cirrhotic patients in five regions of Zhejiang Province were enrolled. Patients were evaluated for demographics, number connection test, Hpylori infection, liver impairment, blood ammonia concentration and HE. Patients with Hpylori infection were given I wk therapy with omeprazole plus clarithromycin and tinidazole. ^14C urea breath test was performed and mental symptoms and blood ammonia level were reassessed after RESULTS: Overall H pylori infection rate was 60.6%, and HE occurred in 47.5% of cirrhotic patients. Subclinical HE (SHE) was detected in 55 of 117 cirrhotic patients. Blood ammonia concentration in H pylori negative (n = 180) and positive (n = 277) cirrhotic patients was 53.8 ± 51.4 and 78.4 ± 63.6 μmol/L, respectively (P 〈 0.01), which was significantly reduced to 53.5 ± 37.7 μmol/L after bacterium eradication (n = 126) (P 〈 0.01). Blood ammonia was 97.5 ± 81.0 μmol/L in H pylori-positive cirrhotic patients, and this did not significantly change in those with persistent infection after Hpylori eradication (n = 11). HE was more frequently observed in patients with H pylori infection than in those without (58.5% vs 30.6%, P 〈 0.01). HE rate significantly dropped to 34.1% after H pylori eradiation (P 〈 0.01). H pylori prevalence significantly differed among cirrhotic patients with HE (74.4%), SHE (69.1%), and those without HE (53.2%) (P 〈 0.05). Blood ammonia level was significantly different among cirrhotic patients with HE (94.5 ± 75.6 μmol/L), SHE (59.9 ± 49.2 μmol/L), and without HE (47.3 ± 33.5 μmol/L) (P 〈 0.05). Logistic regression analysis showed that blood ammonia concentration, Child-Pugh stage, upper gastrointestinal bleeding, electrolyte disturbance, and urea nitrogen were risk factors for HE. CONCLUSION: H pylori infection is an important factor for inducing high blood ammonia concentration and HE in cirrhotic patients. H pylori eradication may be helpful for treatment and prevention of HE.展开更多
AIM: To evaluate the influence of Locarnitine on mental conditions and ammonia effects on patients with hepatic encephalopathy (HE). METHODS: One hundred and fifty patients (10 patients with alcoholism, 41 patien...AIM: To evaluate the influence of Locarnitine on mental conditions and ammonia effects on patients with hepatic encephalopathy (HE). METHODS: One hundred and fifty patients (10 patients with alcoholism, 41 patients with hepatitis virus B infection, 78 patients with hepatitis C virus infection, 21 patients with cryptogenetic cirrhosis) meeting the inclusion criteria were randomized into group A receiving a 90-d treatment with L-carnitine (2 g twice a day) or into group B receiving placebo in double blind. RESULTS: At the end of the study period, a significant decrease in NI-14 fasting serum levels was found in patients with hepatic encephalopathy (P〈0.0S) after the treatment with levocarnitine (LC). Significant differences were also found between symbol digit modalities test and block design in patients with hepatic encephalopathy (P〈0.0S). CONCLUSION: Results of our study suggest an important protective effect of L-carnitine against ammonia-precipitated encephalopathy in cirrhotic patients.展开更多
文摘Objective: To explore the value of magnetic resonance imaging (MRI) in diagnosis of occupying lesions in cerebellopontine angle area. Methods: MRI records of 78 patients with pathologically confirmed occupied lesions in cerebellopontine angle area were analyzed. Results: Of the 78 cases, 48 (61.5%) were unilateral acoustic neuroma, 5 (6.4%) were bilateral acoustic neuroma, 12 (15.4%) were meningioma, 4 (5.1%) were trigeminal neuroma, 3 (3.8%) were lipoma, 2 (2.6%) were melanoma, and 1 (1.3%) was medulloblastoma. According to the anatomic site, tumor lesion character, and MRI signal, the majority of cerebellopontine angle area tumors were diagnosed accurately. Conclusion: MRI plays an important role in diagnosis of occupying lesions in cerebellopontine angle area.
基金The National Natural Science Foundation of China(No.8123003481271739+2 种基金81501453)the Special Program of Medical Science of Jiangsu Province(No.BL2013029)the Natural Science Foundation of Jiangsu Province(No.BK20141342)
文摘In order to classify the minimal hepatic encephalopathy (MHE) patients from healthy controls, the independent component analysis (ICA) is used to generate the default mode network (DMN) from resting-state functional magnetic resonance imaging (fMRI). Then a Bayesian voxel- wised method, graphical-model-based multivariate analysis (GAMMA), is used to explore the associations between abnormal functional integration within DMN and clinical variable. Without any prior knowledge, five machine learning methods, namely, support vector machines (SVMs), classification and regression trees ( CART ), logistic regression, the Bayesian network, and C4.5, are applied to the classification. The functional integration patterns were alternative within DMN, which have the power to predict MHE with an accuracy of 98%. The GAMMA method generating functional integration patterns within DMN can become a simple, objective, and common imaging biomarker for detecting MIIE and can serve as a supplement to the existing diagnostic methods.
文摘Objective: To observe the magnetic resonance imaging (MRI) morphological features of radiation encephalopathy (REP) in nasopharyngeal carcinoma (NPC) and investigate their diagnostic value. Methods: The MRI data of 160 lesions from 104 NPC patients with the diagnosis of temporal lobe REP were retrospectively analyzed. The MRI was performed after radiation therapy of NPC with an interval ranged from 8 months to 13 years. The imaging sequences included T1-weighted imaging and T2-weighted imaging. Additionally T1-weighted imaging with injection of the contrast agent of Gd-DTPA was performed in 111 lesions and fluid attenuated inversion recovery (FLAIR) was performed on 37 lesions, and among them, 2 cases were subjected to MR perfusion weighted imaging (PWI). Results: Unilateral temporal lobe was involved in 48 cases of REP, bilateral temporal lobe in 56 cases of REP respectively, with a total of 160 lesions. The REP in the white matter displayed hyper-intensity signal on T2-weighted imaging which could be homogenous, whereas areas with heterogeneous hypo-intensity signal could be seen in 59 of them otherwise with hyper-intensity signal, and 91 lesions of white matter were associated with gray matter lesions with an appearance of hypo-intensity signal on T1-weighted imaging and hyper-intensity signal on T2-weighted imaging. In 111 lesions with the Gd-DTPA enhanced T1-weigthed imaging, 91 showed the enhancement of brain parenchyma. Hemorrhage and hemosiderosis occurred in 5 lesions of REP. Conclusion: REP in NPC has a multiplicity of the imaging features on MRI, in addition to the common involvement of white matter, including other relatively frequent findings, such as the involvement of gray matter, hemorrhage, hemosiderosis and blood-brain barrier destruction, those could be clearly revealed on MRI.
基金the National Natural Sciences Foundation of China (No. 30770664)a grant from Educational Committee of Anhui Province, China (No. ZD2008008-2).
文摘Objective Machado-Joseph disease (MJD)/Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by an expansion of polyglutamine tract near the C-terminus of the MJD1 gene product, ataxin-3. The precise mechanism of the MJD/SCA3 pathogenesis remains unclear. A growing body of evidence demonstrates that phosphorylation plays an important role in the pathogenesis of many neurodegenerative diseases. However, few kinases are known to phosphorylate ataxin-3. The present study is to explore whether ataxin-3 is a substrate of casein kinase 2 (CK2). Methods The interaction between ataxin-3 and CK2 was identified by glutathione S-transferase (GST) pull-down assay and co-immunoprecipition assay. The phosphorylation of ataxin-3 by CK2 was measured by in vitro phosphorylation assays. Results (1) Both wild type and expanded ataxin-3 interacted with CK2α and CK2β in vitro. (2) In 293 cells, both wild type and expanded ataxin-3 interacted with CK2β, but not CK2α. (3) CK2 phosphorylated wild type and expanded ataxin-3. Conclusion Ataxin-3 is a substrate of protein kinase CK2.
基金Supported by the National Natural Science Foundation of China (30671997)~~
文摘Imaging technologies are utilized to study the brain morphology and the functions of rat models of Parkinson disease (PD). Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) are used to obtain morphological imaging data. Functional imaging data, such as the spectrum and blood flow changes are obtained by proton magnetic resonance spectroscopy (1H-MRS) and CT perfusion (CTP). Results show that PD rat models have no characteristic morphological imaging abnormalities, but exist regional cerebral blood flow (CBF) reductions and spectral changes in the striatum.
文摘Objective: To investigate the treatment effectiveness and side effects of stereotactic radiotherapy for brain glioma. Methods: From Jun. 1995 to Dec. 1998, 389 cases of brain gliomas were treated by stereotactic radiotherapy, among which 151 cases were treated by stereotactic radiosurgery (SRS) and the other 238 cases, by fractionated stereotactic radiotherapy (FSRT). In the SRS group, the marginal tumor dose was 20 to 30 Gy (median, 2.6 Gy). One to 6 isocenters (median, 2.48) and 5 to 21 irradiation arcs (median, 8.45) were applied. In the FSRT group, the per-fraction marginal tumor dose was 8 to 12 Gy with 1 to 6 isocenters (median, 2.53), 6 to 20 irradiation arcs (median, 8.25) and 2-5 fractions delivered everyday or every other day. Results: Three months after treatment, the complete and partial response rates were 13.9% and 45.7% in SRS group respectively. The stable disease rate was 17.2%. The total effective rate was 76.8%. In FSRT group, the complete and partial remission rates were 19.7% and 47.9% respectively. The stable disease rate was 20.6%. The total effective rate was 88.2%. The total effective rate of FSRT group was higher than that in SRS group (X^2=9.874, P=0.020). The 1-year, 3-year and 5-year survival rate of all patients was 54.3%, 29.3%, 16.5% respectively. The 1-year, 3-year and 5-year survival rate in SRS group and FSRT group was 52.3% vs 26.5%, 11.9% vs 55.5%, and 31.1 vs 19.3% respectively. There was no significant difference between the two groups (X^2=2.16, P=0.1417). The brain edema caused by the main radiation was more severe in the SRS group than in FSRT group (X^2=4.916, P=0.027). Conclusion: It is effective for brain glioma to be treated by stereotactic radiotherapy. Compared with SRS, the FSRT has the advantage of good effect and less side response.
基金Supported by Grant from National Ministry of Personnel Foundation for Distinguished Young Schotars of China(1998)
文摘Objective:To evaluate the diagnostic potential of cerebrospmal fluid (CSF) levels of β-amyloid protein (Aβ) as biochemical marker for senile dementia in clinical practice. Methods : Sensitive enzyme-linked immunosorbent assay (ELISA) was performed in our lalxrratory to delect the CSF levels of Aβt-40, Aβ1-42 in 54 patients with Alzlteimer's disease (AD), and 30 normal controls (NC). Results: The cut off value of Aβ ratio and Aβ1-42 concentration in NC group provided 54. 51%, 90. 00% sensitivity and 81. 25%, 84. 38% specificity respectively in diagnosis of AD. Conclusion : AD group had a significant decreased level of Aβ1-42 and an increased level of Aβ ratio, compared with NC group.
文摘Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q tel with 3-cM. The purpose of this study was to narrow down the genetical distance on chromosomal 22q tel with MLC. Methods: Thirty-nine MLC patients in 33 families were collected,and the linkage analysis and haplotype analysis of twelve informative families were done, using seven microsatellite markers and four SNP markers. Results: The maximum tow-point LOD score for marker 355c18 was 6.65 at recombination fraction 0.02. The haplotype analysis narrowed down the critical region of MLC to 250 kb on chromosomal 22q tel. Conclusion: One of the causing genes of MLC was located on chromosomal 22q tel with 250 kb. Four candidate genes were considered. The heterogeneity of one informative family indicated possible existence of a second locus for MLC.
文摘Minimal hepatic encephalopathy is a neuro-cognitive dysfunction which occurs in an epidemic proportion of cirrhotic patients,estimated as high as 80% of the population tested. It is characterized by a specific,complex cognitive dysfunction which is independent of sleep dysfunction or problems with overall intelligence. Although named "minimal",minimal hepatic encephalopathy(MHE) can have a far-reaching impact on quality of life,ability to function in daily life and progression to overt hepatic encephalopathy. Importantly,MHE has a profound negative impact on the ability to drive a car and may be a significant factor behind motor vehicle accidents. A crucial aspect of the clinical care of MHE patients is their driving history,which is often ignored in routine care and can add a vital dimension to the overall disease assessment. Driving history should be an integral part of care in patients with MHE. The lack of specific signs and symptoms,the preserved communication skills and lack of insight make MHE a difficult condition to diagnose. Diagnostic strategies for MHE abound,but are usually limited by financial,normative or time constraints. Recent studies into the inhibitory control and critical flicker frequency tests are encouraging since these tests can increase the rates of MHE diagnosis without requiring a psychologist. Although testing for MHE and subsequent therapy is not standard of care at this time,it is important to consider this in cirrhotics in order to improve their ability to live their life to the fullest.
文摘AIM: To investigate clinical characteristics and therapy of pancreatic encephalopathy (PE) and Wernicke encephalopathy (WE). METHODS: In a retrospective study of 596 patients with acute pancreatitis (AP), patients with PE were compared to those with WE in regards to history, clinical manifestation, diagnosis, treatment and outcome. RESULTS: There were 93 patients with severe acute pancreatitis (SAP). Encephalopathies were discovered in 10 patients (1.7%). Six patients with PE all developed in SAP (6.5%), and three of them died (3% of SAP, 50% of PE). Four patients with WE developed in AP (0.7%), and two of them died (0.3% of AP, 50% of WE). Two patients with WE were treated with parenteral thiamine and survived. Global confusions were seen in all patients with encephalopathy. Ocular abnormalities were found. Conjugate gaze palsies were seen in 1 of 6 (16.7%) patients with PE. Of 4 patients with WE, one (25%) had conjugate gaze palsies, two (50%) had horizontal nystagmus, three (75%) had diplopia, and one (25%) had myosis. Ataxia was not seen in all patients. None of patients with WE presented with the classic clinical triad. CSF examinations for 2 patients with WE showed lightlyincreased proteins and glucose. CT and MRI of the brain had no evidence of characteristic abnormalities. CONCLUSION: PE occurs in early or reiteration stage of SAP, and WE in restoration stage of SAP/AP. Ocular abnormalities are the hallmarks of WE, and horizontal nystagmus is common. It is difficult to diagnose earlier an encephalopathy as PE or WE, as well as differentiate one from the other. Long fasting, hyperemesis and total enteral nutrition (TPN) without thiamine are main causes of thiamine deficiency in the course of pancreatitis.
文摘AIM: To investigate the relationship between H pylori infection, blood ammonia concentration and hepatic encephalopathy (HE), and the effect of Hpylori eradication in cirrhotic patients. METHODS: From July 2003 to January 2005, 457 cirrhotic patients in five regions of Zhejiang Province were enrolled. Patients were evaluated for demographics, number connection test, Hpylori infection, liver impairment, blood ammonia concentration and HE. Patients with Hpylori infection were given I wk therapy with omeprazole plus clarithromycin and tinidazole. ^14C urea breath test was performed and mental symptoms and blood ammonia level were reassessed after RESULTS: Overall H pylori infection rate was 60.6%, and HE occurred in 47.5% of cirrhotic patients. Subclinical HE (SHE) was detected in 55 of 117 cirrhotic patients. Blood ammonia concentration in H pylori negative (n = 180) and positive (n = 277) cirrhotic patients was 53.8 ± 51.4 and 78.4 ± 63.6 μmol/L, respectively (P 〈 0.01), which was significantly reduced to 53.5 ± 37.7 μmol/L after bacterium eradication (n = 126) (P 〈 0.01). Blood ammonia was 97.5 ± 81.0 μmol/L in H pylori-positive cirrhotic patients, and this did not significantly change in those with persistent infection after Hpylori eradication (n = 11). HE was more frequently observed in patients with H pylori infection than in those without (58.5% vs 30.6%, P 〈 0.01). HE rate significantly dropped to 34.1% after H pylori eradiation (P 〈 0.01). H pylori prevalence significantly differed among cirrhotic patients with HE (74.4%), SHE (69.1%), and those without HE (53.2%) (P 〈 0.05). Blood ammonia level was significantly different among cirrhotic patients with HE (94.5 ± 75.6 μmol/L), SHE (59.9 ± 49.2 μmol/L), and without HE (47.3 ± 33.5 μmol/L) (P 〈 0.05). Logistic regression analysis showed that blood ammonia concentration, Child-Pugh stage, upper gastrointestinal bleeding, electrolyte disturbance, and urea nitrogen were risk factors for HE. CONCLUSION: H pylori infection is an important factor for inducing high blood ammonia concentration and HE in cirrhotic patients. H pylori eradication may be helpful for treatment and prevention of HE.
文摘AIM: To evaluate the influence of Locarnitine on mental conditions and ammonia effects on patients with hepatic encephalopathy (HE). METHODS: One hundred and fifty patients (10 patients with alcoholism, 41 patients with hepatitis virus B infection, 78 patients with hepatitis C virus infection, 21 patients with cryptogenetic cirrhosis) meeting the inclusion criteria were randomized into group A receiving a 90-d treatment with L-carnitine (2 g twice a day) or into group B receiving placebo in double blind. RESULTS: At the end of the study period, a significant decrease in NI-14 fasting serum levels was found in patients with hepatic encephalopathy (P〈0.0S) after the treatment with levocarnitine (LC). Significant differences were also found between symbol digit modalities test and block design in patients with hepatic encephalopathy (P〈0.0S). CONCLUSION: Results of our study suggest an important protective effect of L-carnitine against ammonia-precipitated encephalopathy in cirrhotic patients.