Peripheral neuropathy in copper deficient Wilson′s disease due to excessive copper removal: a case report and literature review / 中华神经科杂志

Objective@#To report a case of peripheral neuropathy secondary to copper deficiency (CD) by long-term decoppering chelation in Wilson′s disease (WD) to enhance understanding of the disease, and to pay more attention to individualized treatment of WD. @*Methods@#A case of WD diagnosed 12 years ago confirmed by gene detection and since then treated with anti-copper agent was diagnosed as CD based peripheral neuropathy and significant neutropenia and followed up for six months, and the clinical manifestations, laboratory examination, electrophysiology, imaging features were summarized. The related literatures were reviewed. @*Results@#A total of 16 cases of WD complicated with CD were reviewed and analyzed, including seven males and nine females aged 13-56 years. All of them were treated with zinc for 1-38 years, and nine cases with peripheral neuropathy. Hematological indicators can be significantly improved and neurological symptoms can be partially alleviated after stopping copper removal treatment. @*Conclusions@#Peripheral neuropathy in a WD with treatment-related CD may occur in blind treatment, irregular treatment monitoring and without individualized treatment adjustment. It is necessary to monitor blood routine, copper and zinc metabolism regularly and advocate individualized treatment of WD.

Comparison between approximate entropy and regional homogeneity for identification of irritable bowel syndrome based on functional magnetic resonance imaging / 南方医科大学学报

OBJECTIVE@#To compare the effectiveness and sensitivity of entropy and regional homogeneity (ReHo) for identifying irritable bowel syndrome (IBS) based on functional magnetic resonance imaging (fMRI).@*METHODS@#Voxel-based approximate entropy (ApEn) was calculated based on findings of resting fMRI of 54 patients with IBS and 54 healthy control subjects. Feature selection was performed using independent sample -test, and support vector machine was then used to classify and identify different groups. The classification performance obtained from ApEn was compared with that from ReHo.@*RESULTS@#Significant differences between the two groups were found in the left triangle part of inferior prefrontal gyrus, right angular gyrus of the inferior parietal lobule, left inferior temporal gyrus, left middle temporal gyrus, left lingual gyrus, bilateral middle occipital gyrus and bilateral superior occipital gyrus for ReHo ( < 0.05), and in the bilateral postcentral gyrus, right precentral gyrus, right inferior temporal gyrus, bilateral middle temporal gyrus and left superior occipital gyrus for ApEn ( < 0.05). ApEn consistently showed better performance than ReHo regardless of the variations in the number of features. The classification accuracy, specificity and sensitivity of ApEn were 93.5185%, 90.7407% and 96.2963%, respectively, as compared with 86.1111%, 85.1852% and 87.037% of ReHo.@*CONCLUSIONS@#Entropy analysis based on fMRI can be more sensitive and effective than ReHo for identification of IBS.

Investigation on knowledge of tumor-related occupational protection among medical staffs in cancer related departments of comprehensive hospitals / 中国职业医学

OBJECTIVE: To analyze the current status of tumor-related occupational protection knowledge among medical staffs in comprehensive hospitals. METHODS: A stratified random sampling method was used to select 572 medical workers from 24 comprehensive hospitals as study subjects, including 289 nurses and 283 medical doctors. The Survey on Occupational Protection Knowledge and Management of Hospital Tumors was used to investigate the research subjects. RESULTS: i) The awareness status of the tumor-related occupational protection knowledge: the awareness rate of sharps injuries that should be included in occupational protection management was as high as 93.7%, while the awareness rate of standard operating procedures for occupational protection in working post was only 32.9%. ii) Evaluation on the management of tumor-related occupational protection in the hospital: most medical personnel think that medical occupational protection is very important to medical quality and safety, and they are not satisfied with personal protective equipment(PPE), various protective facilities and medical devices. The satisfaction scores of subjects in the nursing group on the use of PPE, the convenience of PPE, the reliable quality of PPE, the use of occupational health protection facilities, and the degrees of satisfaction with the occupational protective functions of medical devices and materials were lower than those in the medical group(P<0.05). iii) The awareness status on the knowledge of the management of tumor-related occupational protection in medical staffs of hospital: The awareness rate of items that the hospital′s prominent warning signs for medical waste places, equipment and materials was 89.9%, and the awareness rate of items that the contents of occupational safety and personal protection in the operating procedures of the workplace can meet the protection needs was only 38.1%. The awareness rates of understood that occupational exposure management department has regular inspections and supervision for related work in various departments, and can easily obtain occupational protection standard procedures and emergency treatment plans, the purchase information of work injury insurance, hospital′s prominent warning signs for places, equipment and materials were setting up in the nursing group were higher than that of the medical group(P<0.05). CONCLUSION: Hospitals should strengthen the related training on occupational protection operation specification and protective measures, improve the protection awareness of medical staffs, and make them actively use medical equipment and consumables with occupational protection functions, so as to reduce occupational exposure.

White Matter Microstructural Similarity and Diversity of Functional Constipation and Constipation-predominant Irritable Bowel Syndrome

BACKGROUND/AIMS: The Rome III criteria separated chronic constipation into functional constipation (FC) and constipation-predominant irritable bowel syndrome (IBS-C), but some researchers questioned the partitioning and treated both as distinct parts of a continuum. The study aims to explore the similarity and diversity of brain white matter between FC and IBS-C. METHODS: The voxel-wise analysis of the diffusion parameters was used to quantify the white matter changes of female brains in 18 FC patients and 20 IBS-C patients compared with a comparison group with 19 healthy controls by tract-based spatial statistics. The correlations between diffusive parameters and clinical symptoms were evaluated using a Pearson’s correlation. RESULTS: In comparison to healthy controls, FC patients showed a decrease of fractional anisotropy (FA) and an increase of radial diffusivity (RD) in multiple major fibers encompassing the corpus callosum (CC, P = 0.001 at peak), external capsule (P = 0.002 at peak), corona radiata (CR, P = 0.001 at peak), and superior longitudinal fasciculus (SLF, P = 0.002 at peak). In contrast, IBS-C patients showed FA and RD aberrations in the CC (P = 0.048 at peak). Moreover, the direct comparison between FC and IBS-C showed only RD differences in the CR and SLF. In addition, FA and RD in the CC were significantly associated with abdominal pain for all patients, whereas FA in CR (P = 0.016) and SLF (P = 0.040) were significantly associated with the length of time per attempt and incomplete evacuation separately for FC patients. CONCLUSION: These results may improve our understanding of the pathophysiological mechanisms underlying different types of constipation.

In vitro and in vivo antioxidant and antimicrobial activities of extracts from Platycarya strobilacea infructescence

We determined the in vitro antioxidant and antimicrobial activities of Platycarya strobilacea infructescence [PSI] from various solvent extracts [methanol, ethyl acetate, water and tannin polymers] and quantified the content of total phenolic of each extract. The ethyl acetate extract was found to have the best radical-scavenging activity and ferric reducing power, as well as antimicrobial activity. In order to investigate the protective effect on oxidative stress in vivo, each extract was administered to rats, and the serum, liver and heart were analyzed. The water extract and tannin polymers significantly decreased malonyldialdehyde [MDA] concentrations in serum, liver and heart compared to the control group [P<0.01]. Furthermore, super oxide dismutase [SOD] and glutathione per oxidase [GSH-Px] activities were increased by administration of all extracts. We concluded that the ethyl acetate extract of PSI has strong antioxidant activity in vitro and possesses antimicrobial activity. These results indicated PSI the potential of medicinal uses and food preservation

Metabolic Mechanism of Copper and its Toxic Effect on Liver / 胃肠病学

Copper is an essential trace element and plays an important role in the synthesis and function of many metabolic enzymes. However,it may be toxic when copper is overloaded. Numerous studies have been conducted on copper metabolism,especially the toxicity on liver;but systemic review is rare. This article is a systemic review on metabolism, mechanism of toxic effect,liver disease related to overloading of copper,and illustrates the effect of copper on liver ultra structure,oxidative stress,mitochondrial function,cell cycle and apoptosis.

Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze a case of cerebrotendinous xanthomatosis (CTX) with mental retardation as the initial neurological symptom.</p><p><b>METHODS</b>Medical imaging, histopathological assay and genetic testing were carried out to analyze the patient.</p><p><b>RESULTS</b>Neurological manifestations of the 27-year-old male patient were initiated by mental retardation and subsequently memory lapses, ataxia, spastic paraplegia and fuzzy language. Other symptoms included cataract, xanthomatosis in Achilles tendon, kidney stones and high arches. The total bile acid in serum has risen to 14.7 umol/L. There were symmetrical abnormal signals in bilateral cerebellar dentate nuclei, hypointensities on T1WI and DWI and mixed signals on T2WI. Cholesterol crystallization and cholesterol granulomatous inflammation were found upon pathological examination of the Achilles tendon. The patient was found to have carried a compound heterozygous mutation of the CTX gene, which consisted of two novel mutations including c.379C>T (p.Arg127Trp) in exon 2 and c.1174G>A (p.Glu392Lys) in exon 6 of the CYP27A1 gene.</p><p><b>CONCLUSION</b>Clinicians should be alert to cerebrotendinous xanthomatosis when the patient has mental retardation caused by genetic and metabolic factors beginning at a young age, particularly accompanied with tendinous xanthomatosis and cataracts. CTX can be readily diagnosed by histopathological assay and sequencing of the CYP27A1 gene.</p>

Color Doppler imaging feature of localized Castleman disease / 中华超声影像学杂志

Objective To summary the color Doppler imaging feature of localized Castleman disease.Methods From January 1997 to November 2011,32 localized Castleman diseases which were proved by pathology were analyzed.Results Round-like,hypoechoic,hypervascular lesions were showed in 23 hyalinevascular type lesions,2 of them with calcium,3 of them with structure liked lymph node hilum.Round-like,hypoechoic,hypervascular lesions or normal lymph node were showed in 5 plasma- type lesions and 4 mixed type lesions.Conclusions When round like,hypoechoic,hypervascular lesion is found by ultrasonography,Castleman should be considered.Calcium or lymph nod hilum-like structure is special finding in diagnosis of Castleman disease by ultrasonography.

Generation of factor VIII gene knockout mouse by tetraploid embryo complementation technology / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Factor VIII( FVIII) gene knockout mouse model was established for further study on the treatment of hemophilia A.</p><p><b>METHODS</b>Exons 16-19 of the mouse FVIII gene were knocked out by ET clone, ES homologous recombination and tetraploid embryo compensation technology. PCR, reverse transcriptase-PCR(RT-PCR) and immunohistochemistry were used to detect the transcription and translation pattern of FVIII. The phenotype of the knockout mice was analyzed by examining the activated partial thromboplastin time (APTT) and FVIII activity (FVIII:C).</p><p><b>RESULTS</b>PCR, RT-PCR and immunohistochemistry confirmed that FVIII was deficient in the FVIII gene knockout mouse. The APTT results showed that FVIII-deficient mouse plasma had a prolonged clotting time compared to normal mouse plasma. The FVIII:C in heterozygous, hemizygous and homozygous mice was 80%, 8% and 10% of that in normal mice, respectively.</p><p><b>CONCLUSION</b>The phenotype of the FVIII gene knockout mouse appears grossly similar to that of human with hemophilia A. Establishment of this model may promote the development of new technologies of treatment to hemophilia A.</p>