(1) The relative frequencies of the different forms of limb-girdle muscular dystrophy in China are similar to those reported in European countries. Calpainopathy is the most common form of limb-girdle muscular dystrophy in China, followed by dysferlinopathies. According to most cohorts studied to date, caveolinopathy appears to be a rare autosomal dominant form of limb-girdle muscular dystrophy, compared with other subtypes in China.
(2) Disease activity was associated with limb-girdle muscular dystrophy type 2B, while chronicity was associated with limb-girdle muscular dystrophy type 2A biopsies. Acid phosphatase staining is a powerful tool for detecting macrophage distribution in muscle biopsies. Cellular infiltrates are rare, but do not exclude limb-girdle muscular dystrophy type 2D, as is the case for rimmed vacuoles in dysferlinopathies.
The relative frequencies of different subtypes of limb-girdle muscular dystrophies vary widely among different populations. We estimated the percentage of limb-girdle muscular dystrophy subtypes in Chinese people based on 68 patients with limb-girdle muscular dystrophy from the Myology Clinic, Neurology Department, First Hospital of Jilin University, China. A diagnosis of calpainopathy was made in 12 cases (17%), and dysferlin deficiency in 10 cases (15%). Two biopsies revealed α-sarcoglycan deficiency (3%), and two others revealed a lack of caveolin-3 (3%). A diagnosis of unclassified limb-girdle muscular dystrophy was made in the remaining patients (62%). The appearances of calpain 3- and dysferlin-deficient biopsies were similar, though rimmed vacuoles were unique to dysferlinopathy, while inflammatory infiltrates were present in both these limb-girdle muscular dystrophy type 2D biopsies. Macrophages were detected in seven dysferlinopathy biopsies. The results of this study suggest that the distribution of limb-girdle muscular dystrophy subtypes in the Han Chinese population is similar to that reported in the West. The less necrotic, regenerating and inflammatory appearance of limb-girdle muscular dystrophy type 2A, but with more lobulated fibers, supports the idea that calpainopathy is a less active, but more chronic disease than dysferlinopathy. Unusual features indicated an extended limb-girdle muscular dystrophy disease spectrum. The use of acid phosphatase stain should be considered in suspected dysferlinopathies. To the best of our knowledge, this is the first report to define the relative proportions of the various forms of limb-girdle muscular dystrophy in China, based on protein testing.
(1) We constructed a three-dimensional visualization model of the cervical nerves using Mimics software based on original two-dimensional data obtained by continuous CT angiography and magnetic resonance myelography in a healthy volunteer.
(2) This model represents the first in vivo data of cervical nerve anatomy, which differs from classical methods using “visible human” (Digital Human) frozen sections from a cadaver.
(3) This model overcomes the disadvantages of the milling technique and avoids data loss. thermore, vivid images from various angles can be observed due to minimal pattern distortion.
Three-dimensional reconstruction nerve models are classically obtained from two-dimensional ages of “visible human” frozen sections. However, because of the flexibility of nerve tissues and small color differences compared with surrounding tissues, the integrity and validity of nerve tissues can be impaired during milling. Thus, in the present study, we obtained two-dimensional data from a healthy volunteer based on continuous CT angiography and magnetic resonance myelography. Semi-automatic segmentation and reconstruction were then conducted at different thresholds in different tissues using Mimics software. Small anatomical structures such as muscles and cervical nerves were reconstructed using the medical computer aided design module. Three-dimensional digital models of the cervical nerves and their surrounding structures were successfully developed, which allowed visualization of the spatial relation of anatomical structures with a strong three-dimensional effect, distinct appearance, clear distribution, and good continuity, precision, and integrality. These results indicate the validity of a three-dimensional digital visualization model of healthy human cervical nerves, which overcomes the disadvantages of milling, avoids data loss, and exhibits a realistic appearance and three-dimensional image.
(1) This study, for the first time, reported the motor outcomes of upper and lower extremities in patients with a complete middle cerebral artery territory infarct.
(2) After receiving rehabilitation treatments for 3-6 months, about 70% of patients were able to walk independently, but no patient achieved functional hand recovery.
(3) Results from this study will provide supporting evidence for developing rational rehabilitation strategies and establishing proper goals for stroke patients.
Detailed knowledge of motor outcomes enables to establish proper goals and rehabilitation strategies for stroke patients. Several previous studies have reported functional or motor outcomes in patients with a middle cerebral artery territory infarct. However, little is known about motor outcome in patients with a complete middle cerebral artery territory infarct. In this study, we investigated the motor outcomes in 23 patients with a complete middle cerebral artery territory infarct. All of these patients received comprehensive rehabilitative management, including movement therapy and neuromuscular electrical stimulation of the affected finger extensors and ankle dorsiflexors, for more than 3 months. Motor outcomes were measured at 6 months after stroke onset using the Medical Research Council, Motricity Index, the modified Brunnstrom Classification, and Functional Ambulation Category scores. The motor function of the lower extremities was found to be better than that of the upper extremities. After receiving rehabilitation treatments for 3-6 months, about 70% of these patients were able to walk independently (Functional Ambulation Category scores > 3), but no patient achieved functional hand recovery.
Previous studies have suggested that the incidence of post-traumatic stress disorder in earthquake rescue workers is relatively high. Risk factors for this disorder include demographic characteristics, earthquake-related high-risk factors, risk factors in the rescue process, personality, social support and coping style. This study examined the current status of a unit of 1 040 rescue workers who participated in earthquake relief for the Wenchuan earthquake that occurred on May 12th, 2008. Post-traumatic stress disorder was diagnosed primarily using the Clinician-Administered Post-traumatic Stress Disorder Scale during structured interviews. Univariate and multivariate statistical analyses were used to examine major risk factors that contributed to the incidence of post-traumatic stress disorder. Results revealed that the incidence of this disorder in the rescue group was 5.96%. The impact factors in univariate analysis included death of family members, contact with corpses or witnessing of the deceased or seriously injured, near-death experience, severe injury or mental trauma in the rescue process and working at the epicenter of the earthquake. Correlation analysis suggested that post-traumatic stress disorder was positively correlated with psychotic and neurotic personalities, negative coping and low social support. Impact factors in multivariate logistic regression analysis included near-death experience, severe injury or mental trauma, working in the epicenter of the rescue, neurotic personality, negative coping and low social support, among which low social support had the largest odds ratio of 20.42. Findings showed that the occurrence of post-traumatic stress disorder was the result of the interaction of multiple factors.
(1) Occurrence of post-traumatic stress disorder in a rescue group after the Wenchuan earthquake relief resulted from the interaction of various factors.
(2) Impact factors in univariate analysis included death of family members, contact with corpses or witnessing of the deceased or seriously injured, near-death experience, severe injury or mental trauma in the rescue process and working at the epicenter of the earthquake.
(3) Impact factors in multivariate logistic regression analysis included near-death experience, severe injury or mental trauma, working in the epicenter of the rescue, neurotic personality, negative coping and low social support.
(4) An earthquake rescue group is a special population with strong physical ability and coping capacity as well as strong ability to endure mental pressure.
(1) Previous studies have demonstrated that ethanol influences the secretion of neurotrophins, promotes oxidative stress, reduces the absorption of nutritive substances, and thereby induces neuronal damage.
(2) Recent evidence has demonstrated that ethanol can directly induce apoptotic cell death of the neurons and initiate c-Jun N-terminal protein kinase and p38 kinase pathway.
(3) By using SK-N-SH neuroblastoma cells, this study investigated the mechanism behind ethanol-induced neural cell apoptosis.
(4) Results from this study indicate that ethanol mediates apoptosis of SK-N-SH neuroblastoma cells by activating p53-related cell cycle arrest possibly through activation of the c-Jun N-terminal protein kinase-related cell death pathway.
A body of evidence suggests that ethanol can lead to damage of neuronal cells. However, the mechanism underlying the ethanol-induced damage of neuronal cells remains unclear. The role of mitogen-activated protein kinases in ethanol-induced damage was investigated in SK-N-SH neuroblastoma cells. 3-[4,5-Dimethylthiazol-2-yl]-2,5-diphenyl tetrazolium bromide cell viability assay, DNA fragmentation detection, and flow cytometric analysis showed that ethanol induced apoptotic cell death and cell cycle arrest, characterized by increased caspase-3 activity, DNA fragmentation, nuclear disruption, and G1 arrest of cell cycle of the SK-N-SH neuroblastoma cells. In addition, western blot analysis indicated that ethanol induced a lasting increase in c-Jun N-terminal protein kinase activity and a transient increase in p38 kinase activity of the neuroblastoma cells. c-Jun N-terminal protein kinase or p38 kinase inhibitors significantly reduced the ethanol-induced cell death. Ethanol also increased p53 phosphorylation, followed by an increase in p21 tumor suppressor protein and a decrease in phospho-Rb (retinoblastoma) protein, leading to alterations in the expressions and activity of cyclin dependent protein kinases. Our results suggest that ethanol mediates apoptosis of SK-N-SH neuroblastoma cells by activating p53-related cell cycle arrest possibly through activation of the c-Jun N-terminal protein kinase-related cell death pathway.
(1) Participants underwent functional MRI imaging while reading Chinese action verbs to elucidate the semantic representation of Chinese radicals.
(2) Reading characters with hand-radicals activated the right medial frontal gyrus.
(3) Verbs involving hand-action activated the left inferior parietal lobule, possibly reflecting integration of information in the radical with the semantic meaning of the verb.
(4) This study enhanced our understanding of the neural substrates underlying the process of reading in Chinese, with potential benefits for the development of treatments for dyslexia.
Embodied semantics theory asserts that the meaning of action-related words is neurally represented through networks that overlap with or are identical to networks involved in sory-motor processing. While some studies supporting this theory have focused on Chinese characters, less attention has been paid to their semantic radicals. Indeed, there is still disagreement about whether these radicals are processed independently. The present study investigated whether radicals are processed separately and, if so, whether this processing occurs in sensory-motor gions. Materials consisted of 72 high-frequency Chinese characters, with 18 in each of four ries: hand-action verbs with and without hand-radicals, and verbs not related to hand actions, with and without hand-radicals. Twenty-eight participants underwent functional MRI scans while reading the characters. Compared to characters without hand-radicals, reading characters with hand-radicals activated the right medial frontal gyrus. Verbs involving hand-action activated the left inferior parietal lobule, possibly reflecting integration of information in the radical with the semantic meaning of the verb. The findings may be consistent with embodied semantics theory and suggest that neural representation of radicals is indispensable in processing Chinese characters.
(1) The characteristic index of the electroencephalogram signal was extracted using a nonlinear dynamics method, and a support vector machine was used for the classification of epileptic electroencephalogram signals. Our findings are more accurate than previous classification studies.
(2) Previous studies used electroencephalogram data from one or two cases in one electroencephalogram database, while we selected electroencephalogram data from four epileptic patients from the electroencephalogram database in two different hospitals, so the results are more representative.
(3) In this study, electroencephalogram data from different cases were regarded as training data and test data for the support vector machine, which was different from previous studies that only used data from the same case, so our results are more meaningful for the prediction of clinical seizures.
(4) We calculated the average classification accuracy rate of three cases as the final results, which are more convincing. Our findings indicate that a nonlinear dynamics index trained classifier can effectively identify epileptic electroencephalogram signals, and has good generalization ability.
The automatic detection and identification of electroencephalogram waves play an important role in the prediction, diagnosis and treatment of epileptic seizures. In this study, a nonlinear dynamics index-approximate entropy and a support vector machine that has strong generalization ability were applied to classify electroencephalogram signals at epileptic interictal and ictal periods. Our aim was to verify whether approximate entropy waves can be effectively applied to the automatic real-time detection of epilepsy in the electroencephalogram, and to explore its generalization ability as a classifier trained using a nonlinear dynamics index. Four patients presenting with partial epileptic seizures were included in this study. They were all diagnosed with neocortex localized epilepsy and epileptic foci were clearly observed by electroencephalogram. The electroencephalogram data form the four involved patients were segmented and the characteristic values of each segment, that is, the approximate entropy, were extracted. The support vector machine classifier was constructed with the approximate entropy extracted from one epileptic case, and then electroencephalogram waves of the other three cases were classified, reaching a 93.33% accuracy rate. Our findings suggest that the use of approximate entropy allows the automatic real-time detection of electroencephalogram data in epileptic cases. The combination of approximate entropy and support vector machines shows good generalization ability for the classification of electroencephalogram signals for epilepsy.
(1) A serum amyloid A gene polymorphism is positively correlated with carotid intima-media thickness in the healthy Han Chinese population. However, the correlation between this serum amyloid A polymorphism and ischemic cerebrovascular disease is not yet known. Interleukin-18 is closely related to atherosclerotic plaque progression and instability. Interleukin-18 promoter gene polymorphisms may be associated with ischemic stroke pathogenesis, and the -607C allele increases ischemic stroke risk in the Han Chinese population. The frequency distribution of genetic polymorphisms varies among different populations, races, and living environments.
(2) In the present study, we analyzed serum amyloid A and interleukin-18 levels in a Han Chinese population to investigate the relationship between serum amyloid A, interleukin-18, and C-reactive protein, as well as their role in ischemic cerebrovascular disease.
(3) The -13T/C (rs11024595) polymorphism, in the 5´-flanking region of the serum amyloid A gene, shows no correlation with ischemic cerebrovascular disease. However, the C allele of the -607C/A (rs1946518) polymorphism in the interleukin-18 gene promoter is a strong risk factor for ischemic cerebrovascular disease in the Han population of northern China. In addition, the A allele is likely protective for ischemic cerebrovascular disease.
Interleukin-18 gene promoter polymorphisms are potential risk factors for ischemic cerebrovascular disease, and the -607C allele may increase ischemic stroke risk in the Han Chinese population. In the present study, we recruited 291 patients with ischemic cerebrovascular disease from the Affiliated Hospital of Qingdao University Medical College, China, and 226 healthy controls. Both patients and controls were from the Han population in northern China. Immunoresonance scattering assays detected increased serum amyloid A protein, C-reactive protein, and interleukin-18 levels in ischemic cerebrovascular disease patients compared with healthy controls. Analysis of the -607C/A (rs1946518) polymorphism in the interleukin-18 gene promoter showed ischemic cerebrovascular disease patients exhibited increased frequencies of the CC genotype and C alleles than healthy controls. Genotype and allele frequencies of the interleukin-18 -137G/C (rs187238) polymorphism and the -13T/C (rs11024595) polymorphism in the 5´-flanking region of serum amyloid A, showed no significant difference between the two groups. Multivariate logistic regression analysis on the interleukin-18 promoter A/C genetic locus, for correction of age, gender, history of smoking, hypertension, diabetes mellitus, hypercholesteremia, and an ischemic stroke family history, showed ischemic cerebrovascular disease risk in individuals without the A allele (C homozygotes) was 2.2-fold greater than in A allele carriers. Overall, our findings suggest that the -13T/C (rs11024595) polymorphism in the 5´-flanking region of serum amyloid A has no correlation with ischemic cerebrovascular disease, but the C allele of the -607C/A (rs1946518) polymorphism in the interleukin-18 promoter is a high-risk factor for ischemic cerebrovascular disease in the Han population of northern China. In addition, the A allele is likely a protective gene for ischemic cerebrovascular disease.
(1) This study proposes that a disorder of lipid metabolism may participate in the onset of preeclampsia-eclampsia during pregnancy.
(2) Metabotropic glutamate receptor 1 exerts an effect on the occurrence of high-fat diet-induced preeclampsia during pregnancy.
(3) The Study suggested that the control of fat intake is significant for the prevention of pregnancy-induced eclampsia.
Changes in neurotransmitter levels in the brain play an important role in epilepsy-like attacks after pregnancy-induced preeclampsia-eclampsia. Metabotropic glutamate receptor 1 participates in the onset of lipid metabolism disorder-induced preeclampsia. Pregnant rats were fed with a high-fat diet for 20 days. Thus, these pregnant rats experienced preeclampsia-like syndromes such as tension and proteinuria. Simultaneously, metabotropic glutamate receptor 1 mRNA and protein expressions were upregulated in the rat hippocampus. These findings indicate that increased sion of metabotropic glutamate receptor 1 promotes the occurrence of high-fat diet-induced preeclampsia in pregnant rats.
(1) Genes that were differentially expressed in normal embryos and embryos with developmental neural tube defects at embryonic days 9.5 and 10.5 were compared using gene chip analysis, providing the first functional classification of differentially-expressed genes in neural tube defects.
(2) Genes related to apoptosis, signal transduction, transcription and translation regulation, protein synthesis and regulation, matrix and cytoskeletal proteins, energy and metabolism, and especially the cell cycle, were all involved in the pathogenesis of neural tube defects.
(3) Cell cycle-related genes including p57kip2, Cdk5 and Spin were downregulated by retinoic acid, but upregulated in the normal neural tube.
(4) This study provides the basis for further research into the mechanisms underlying developmental neural tube defects, and for the prenatal screening and diagnosis of these defects.
In the field of developmental neurobiology, accurate and ordered regulation of the cell cycle and apoptosis are crucial factors contributing to the normal formation of the neural tube. Preliminary studies identified several genes involved in the development of neural tube defects. In this study, we established a model of developmental neural tube defects by administration of retinoic acid to pregnant rats. Gene chip hybridization analysis showed that genes related to the cell cycle and apoptosis, signal transduction, transcription and translation regulation, energy and metabolism, heat shock, and matrix and cytoskeletal proteins were all involved in the formation of developmental neural tube defects. Among these, cell cycle-related genes were predominant. Retinoic acid ment caused differential expression of three cell cycle-related genes p57kip2, Cdk5 and Spin, the expression levels of which were downregulated by retinoic acid and upregulated during normal neural tube formation. The results of this study indicate that cell cycle-related genes play an important role in the formation of neural tube defects. P57kip2, Cdk5 and Spin may be critical genes in the pathogenesis of neural tube defects.