Objective To explore the clinical and genetic characteristics of congenital generalized lipodystrophy (CGL). Method The clinical data of one child with CGL caused by BSCL2 gene mutation were analyzed retrospectively and relative literature were reviewed. Results A 2-year-9-month old girl had clinical manifestations of a lack of subcutaneous fat, acanthosis nigricans, hepatolienomegaly and mild hypophrenia. Laboratory examinations showed hypertriglyceridemia, hyperinsulinemia and cardiomyopathy. The peripheral blood from the child and her parents were collected and 4 genes, AGPAT2, BSCL2, CAV1 and PTRF, were sequenced by Sanger. The results showed a heterozygous mutation of BSCL2 gene from maternal frameshift (c.567-568delGA, p.E189EfsX12) and paternal nonsense mutation (c.565G>T,p.E189X) respectively in the child, and both mutations were pathogenic ones. By a literature review, it is known that BSCL2 gene mutation is the most common cause of in Asian. In CGL with BSCL2 gene mutation, the commom clinical manifestations include disappearance of systemic adipose tissue, acathosis nigricans and hepatomegaly, and the incidence of myocardial infarction and mental retardation were 40% and 30% respectively. Conclusion The main clinical manifestations of CGL caused by BSCL2 gene mutation were loss of systemic adipose tissue and metabolic disorder at an early age. It was often accompanied by myocardial lesions and mental retardation. Gene diagnosis analysis should be made as earliest possible time for the children suspected of this disease.

Objective To investigate the effect of the revision of Chinese Versions of Reading the Mind in the Eyes Test(RME) on the diagnosis of mild cognitive impairment (MCI) and mild Alzheimer's dementia (AD).Methods We compared performance on the cognitive test battery between 96 patients with MCI and 55 patients with AD and 95 control individuals.Neuropsychological tests, encompassing RME-T, Mini Mental State Examination (MMSE) and Auditory Verbal Learning Test (AVLT), were conducted on 96 patients with MCI, 55 patients with AD and 95 healthy control individuals.Completion rate of RME-T in the normal group and the total scores and each item score of RME-T were analyzed, and the feature between RME-T and RME-S (RME-short) was compared.Results The total score of RME-T was (23.7±4.7) in normal group, (19.9 ± 4.9) in MCI group,and (19.9±7.5) in AD group.There were significant differences in the total score of RME-T among the three groups (t=13.9, P＜0.01).The differences in the total score of RME-T between normal group and AD group, between normal group and MCI group were also significant (both P＜0.01).RME-S was composed of 20 items after rejecting 16 items of RME T whose project completion rate was lower than 50％ in the normal group and in which there was no significant difference among normal, MCI and AD groups.The correlations between the total score of RME-T and 3 item scores of RME-T were not significant (P＞0.05).However, the total score of RME-S was highly correlated with each item score of RME-S (P＜0.01).The total score of RME-T and RME S were highly correlated with each total score of the cognitive test battery (P＜0.01).With the normal and MCI groups, normal and AD groups as the subjects, the receiver operating characteristic (ROC) curve analysis found that AUC(RME-S) was＞ AUC(RME-T) in normal and AD groups (P＜0.01), whereas, AUC(RME-S) was＜AUC(RME-T) in normal and MCI groups (P＞0.05).Conclusions RME has good reliability and validity, and RME-S is better than RME-T in internal consistency, which is more suitable for identifying mild cognitive impairment and Alzheimer's disease in Chinese population, and it is worthy of further popularization and application.

The conductivity and permittivity of blood in mice were measured by the AC electrical impedance method at frequency range of 0.1-100MHz, and then the changes of the Cole-Cole parameters of dielectric spectra of blood from phenylhydrazine-induced anemia mice were observed by numerical calculation and curve fitting residual analysis of the Cole-Cole equation. The results showed that hematocrit (Hct) of the mice with phenylhydrazine injection was significantly reduced; the permittivity(epsilon) spectroscopy of blood moved to the low insulating region and its permittivity decreased; conductivity (kappa) spectrum curve of blood moved to the high conductivity zone and conductivity increased; the 2nd characteristic frequency was lower than that in the normal group. There was phenylhydrazine dose dependent in the changes of the Cole-Cole parameters of dielectric spectra of blood.
Anemia ; blood ; Animals ; Blood Physiological Phenomena ; Electric Conductivity ; Electric Impedance ; Hematocrit ; Mice

BACKGROUND:Inflamed dental pulp stem cells are a new kind of dental pulp stem cells, and there is no systematic review on the cells by now. OBJECTIVE:To systematical y review the research progress in inflamed dental pulp stem cells. METHODS:A computer-based online search in PubMed, Web of Science, CNKI, WanFang and VIP databases was performed for related articles published from the establishment of the databases to February 2014. The keywords were“(pulptis or inflam*dental pulp*or human dental pulp with irreversible pulpitis) and stem cel*”in English and Chinese, respectively. Hand searching was also done to obtain further information or papers about the studies. The results were qualitatively analyzed to comprehensively summarize the progress in the research of inflamed dental pulp stem cells. RESULTS AND CONCLUSION:Total y 11 papers were involved in result analysis that comprehensively review the research progress in inflamed dental pulp stem cells at the fol owing aspects:the research of history, material origin, cellculture, cel-surface markers, proliferation ability, multi-directional differentiation potential, animal models and clinical use. Researches of inflamed dental pulp stem cells are stil in the initial stage, and cultivating conditions and the establishment of animal models are stil in the exploratory phase. Controversies stil exist in the capacity of proliferation and multi-directional differentiation of the inflamed dental pulp stem cells. And fewer studies have been done in the characteristics of immunity, subpopulation and clinical use of the inflamed dental pulp stem cells.

Purpose To evaluate the diagnostic value of diffusion weighted imaging with high b value in acute cerebral microinfarcts.Materials and Methods Conventional MRI and diffusion weighted imaging with standard b value (b=1000 s/mm2) and high b value (b=3000 s/mm2) were performed in the 7 patients with acute cerebral infarction,and all the images were evaluated.The signal to noise ration (SNR) and contrast to noise ration (CNR) were measured.Results Five patients were detected much more microinfarcts in high b value as HB group than that in standard b value as SB group.The SNR and CNR were significantly higher in high b value group than that in standard b value group (P＜0.05),but the apparent diffusion coefficient value showed no significant difference between the two groups (P＞0.05).Conclusion DWI with high b value could sensitively detect acute cerebral microinfarcts with high clinical value.

Pain is a complex physiological and psychological activity, involving at least three dimensions, including pain sensation, pain emotion, and pain cognition. Acupuncture can clearly relieve the pain sensation of patients and improve pain emotion and pain cognition induced by pain; acupuncture participates in the multi-dimensional regulation of pain through brain regions of the limbic system such as anterior cingulate cortex (ACC), amygdala (AMY), and hippocampus. By analyzing relevant literature, it has been found that the regulation of acupuncture on pain emotion is mainly related to the activation of pertinent opioid receptors in the ACC, the decrease of the expression of extracellular signal-regulated kinase (ERK), and the promotion of the expression of glutamic acid (Glu) A1, metabotropic glutamate receptor-1 (mGluR1), and γ-aminobutyric acid aminobutyric acid (GABA) B2 protein in the AMY. The regulation of acupuncture on pain cognition is mainly related to the elevation of the expression of protein kinase A (PKA) and phospho-p38 mitogen-activated protein kinase (phospho-p38 MAPK) and the inhibition of cyclic adenosine monophosphate (cAMP)/PKA/cAMP response element-binding protein (CREB) signaling pathway in the ACC.

OBJECTIVETo evaluate early occult brain functional damage in patients with type 2 diabetes mellitus using resting-state functional magnetic resonance imaging (MRI).

METHODSHigh-resolution three-dimensional T1-weighted fast spoiled gradient recalled echo MRI and resting-state functional MRI images were obtained from 18 patients with type 2 diabetes mellitus and 18 normal control subjects. Regional homogeneity (ReHo) map, amplitude of low-frequency fluctuation (ALFF) map, and functional connectivity map of the bilateral hippocampus and posterior cingulate gyrus were calculated and voxel-based analysis was performed using two-sample t-test.

RESULTSIn type 2 diabetic patients, decreased ReHo was deteted in the right thalamus, hippocampus, olfactory cortex and left putamen as compared with the normal controls. The decreased ALFF was found mainly in the left middle frontal gyrus, right supramarginal gyrus and middle occipital gyrus in the diabetic patients. The patients showed reduced functional connectivity between the bilateral hippocampus but not between the bilateral posterior gyrus and the other brain regions.

CONCLUSIONThe occult brain damage is featured by decreased ReHo and ALFF in multiple brain regions and reduced functional connectivity between the bilateral hippocampus in type 2 diabetic patients.

Brain ; pathology ; Brain Injuries ; Brain Mapping ; Case-Control Studies ; Diabetes Mellitus, Type 2 ; pathology ; Frontal Lobe ; Gyrus Cinguli ; Hippocampus ; Humans ; Imaging, Three-Dimensional ; Magnetic Resonance Imaging

Objective To explore the application value of monoexponential, biexponential models multiple b values diffusion weighted imaging(DWI) in distinguishing pancreatic cancer from non-tumorous pancreas.Methods Subjects comprised 37 pancreatic cancers confirmed by clinical or surgery.Pancreas multiple b values DWI was performed using 3.0T scanner.Standard apparent diffusion coefficient (ADCstandard) was calculated using monoexponential diffusion model.Pure diffusion coefficient (ADCslow), pseudodiffusion coefficient (ADCfast) and perfusion fraction (f) were calculated using intravoxel incoherent motion(IVIM) diffusion model.Parameters of pancreatic cancers and non-tumorous pancreas were compared using independent samples t test.Results Mean ADCslow value of pancreatic cancer was higher than that of non-tumorous pancreas (0.611×10-3 mm2/s vs 0.521×10-3 mm2/s,P=0.037).Mean ADCfast and f values of pancreatic cancer were lower than that of non-tumorous pancreas (5.066×10-3 mm2/s vs 7.188×10-3 mm2/s,P=0.035;55.8% vs 64.0%,P=0.016;respectively).ADCslow of pancreatic cancer was positively correlated to ADCstandard (r=0.824,P=0.000).ADCfast of pancreatic cancer was negatively correlated to f(r=-0.558,P=0.000).Conclusion ADCslow, ADCfast and f derived from IVIM-DWI model can distinguish pancreatic cancer from non-tumorous pancreas.IVIM-DWI may be a promising and non-invasive tool for early diagnosing and differentiating pancreatic carcinoma from non-tumorous pancreas.

OBJECTIVE: The periaqueductal gray matter (PAG), a small midbrain structure, presents dysfunction in migraine. However, the precise neurological mechanism is still not well understood. Herein, the aim of this study was to investigate the texture characteristics of altered PAG in episodic migraine (EM) patients based on high resolution brain structural magnetic resonance (MR) images. MATERIALS AND METHODS: The brain structural MR images were obtained from 18 normal controls (NC), 18 EM patients and 16 chronic migraine (CM) patients using a 3T MR system. A PAG template was created using the International Consortium Brain Mapping 152 gray matter model, and the individual PAG segment was developed by applying the deformation field from the structural image segment to the PAG template. A grey level co-occurrence matrix was used to calculate the texture parameters including the angular second moment (ASM), contrast, correlation, inverse difference moment (IDM) and entropy. RESULTS: There was a significant difference for ASM, IDM and entropy in the EM group (998.629 ± 0.162 × 10−3, 999.311 ± 0.073 × 10−3, 916.354 ± 0.947 × 10−5) compared to that found in the NC group (998.760 ± 0.110 × 10−3, 999.358 ± 0.037 × 10−3 and 841.198 ± 0.575 × 10−5) (p < 0.05). The entropy was significantly lower among the patients with CM (864.116 ± 0.571 × 10−5) than that found among patients with EM (p < 0.05). The area under the receiver operating characteristic curve was 0.776 and 0.750 for ASM and entropy in the distinction of the EM from NC groups, respectively. ASM was negatively related to disease duration (DD) and the Migraine Disability Assessment Scale (MIDAS) scores in the EM group, and entropy was positively related to DD and MIDAS in the EM group (p < 0.05). CONCLUSION: The present study identified altered MR image texture characteristics of the PAG in EM. The identified texture characteristics could be considered as imaging biomarkers for EM.
Biomarkers ; Brain ; Brain Mapping ; Entropy ; Gray Matter ; Humans ; Magnetic Resonance Imaging ; Mesencephalon ; Migraine Disorders ; Periaqueductal Gray ; ROC Curve

Purpose To explore the application of intra voxel incoherent motion diffusionweighted imaging (IVIM-DWI) quantitative parameters in evaluating the pathological stage of pancreatic cancer by comparing the manifestations of IVIM-DWI in patients with pancreatic cancer in different differentiaed degrees as there lacked effective screening instrument for the early diagnosis of pancreatic cancer.Materials and Methods Sixteen patients with pathologically proved pancreatic cancer (10 with high-moderation differentiation while 6 with low differentiation) were enrolled,and 3.0T MRI was used to conduct pancreatic DWI with multiple b values.IVIM double-exponential model was used to analyze the measurement parameters of DWI with multiple b values,so as to measure the slow apparent diffusion coefficient (ADCslow),fast apparent diffusion coefficient (ADCfast) and filling fraction (f).Results The ADCslow value was evidently lower in patients with high-moderate differentiated pancreatic cancer than those with low differentiated pancreatic cancer [(0.546± 0.041)× 10-3 mm2/s vs.(0.677± 0.120)× 10-3 mm2/s,P＜0.05],and f value was notably higher in patients with high-moderate differentiated pancreatic cancer than those with low differentiated pancreatic cancer [(59.3 ± 8.8)％ vs.(41.7±22.4)％,P＜0.05].The area under the curve of ADCslow was higher than that of f when distinguishing high-moderate differentiated and low differentiated pancreatic cancer (0.850＞0.750).The sensitivity and specificity were 100.00％ and 83.33％ when ADCslow ≤ 0.599×10-3 mm2/s,and were 100.00％ and 66.67％ when f＞44.7％ in distinguishing high-moderate differentiated and low differentiated pancreatic cancer,respectively.Conclusion ADCslow and f,as the quantitative parameters for IVIM-DWI,can distinguish high-moderate differentiated and low differentiated pancreatic cancer,and predict the pathological stage of pancreatic cancer before operation.Moreover,they also have high diagnostic efficacy in distinguishing high-moderate differentiated and low differentiated pancreatic cancer.