Mental Health and Quality of Life in Chronic Kidney Disease Patients with Mild-to-Moderate Depression: A Retrospective Cohort Study of Mindfulness-Based Stress Reduction Therapy.

BACKGROUND: Chronic kidney disease (CKD) patients may experience pessimism, and even despair, due to long-term nature of the condition, which increases the risk of depression. Mindfulness-based stress reduction (MBSR) can relieve depression. This retrospective cohort study aimed to investigate the effects of MBSR on mental health and quality of life in CKD patients with mild-to-moderate depression, so as to provide guidance for clinical nursing programs. METHODS: The clinical data of 100 CKD patients with mild-to-moderate depression who were treated in Jiading District Central Hospital Affiliated Shanghai University of Medicine & Health Sciences from January 2021 to March 2023 were retrospectively analyzed. Based on nursing method received, the patients were divided into the conventional group (conventional management) and the MBSR group (MBSR therapy was implemented in addition to conventional management). After matching, there were 35 cases in each group. The scores for the self-rating depression scale (SDS), Connor-Davidson Resilience Scale (CD-RISC), Five-factor Mindfulness Questionnaire (FFMQ), Pittsburgh Sleep Quality Index (PSQI), and 36-item Short Form Health Survey (SF-36) were compared between the two groups. RESULTS: After management, the SDS and PSQI scores of the MBSR group were lower than those of the conventional group, and the CD-RISC, FFMQ and SF-36 scores were higher than those of the conventional group (p < 0.05). CONCLUSION: MBSR can improve the mental health, sleep quality, and quality of life of CKD patients with mild-to-moderate depression, and improve psychological resilience and mindfulness.

Mental Health and Quality of Life in Chronic Kidney Disease Patients with Mild-to-Moderate Depression: A Retrospective Cohort Study of Mindfulness-Based Stress Reduction Therapy

Background: Chronic kidney disease (CKD) patients may experience pessimism, and even despair, due to long-term nature of the condition, which increases the risk of depression. Mindfulness-based stress reduction (MBSR) can relieve depression. This retrospective cohort study aimed to investigate the effects of MBSR on mental health and quality of life in CKD patients with mild-to-moderate depression, so as to provide guidance for clinical nursing programs. Methods: The clinical data of 100 CKD patients with mild-to-moderate depression who were treated in Jiading District Central Hospital Affiliated Shanghai University of Medicine & Health Sciences from January 2021 to March 2023 were retrospectively analyzed. Based on nursing method received, the patients were divided into the conventional group (conventional management) and the MBSR group (MBSR therapy was implemented in addition to conventional management). After matching, there were 35 cases in each group. The scores for the self-rating depression scale (SDS), Connor-Davidson Resilience Scale (CD-RISC), Five-factor Mindfulness Questionnaire (FFMQ), Pittsburgh Sleep Quality Index (PSQI), and 36-item Short Form Health Survey (SF-36) were compared between the two groups. Results: After management, the SDS and PSQI scores of the MBSR group were lower than those of the conventional group, and the CD-RISC, FFMQ and SF-36 scores were higher than those of the conventional group (p < 0.05). Conclusion: MBSR can improve the mental health, sleep quality, and quality of life of CKD patients with mild-to-moderate depression, and improve psychological resilience and mindfulness. (AU)

Nitrogen retention potentials of magnesium oxide- and sepiolite-modified biochars and their impacts on bacterial distribution under nitrogen fertilization.

Mitigating the loss and negative impacts of reactive N from fertilized soils remains a global environmental challenge. To optimize N retention by biochar, bamboo and pig manure biochars were modified as MgO- and sepiolite-biochar composites and characterized. Novel soil application of the modified biochars and their raw forms were comparatively evaluated for N-retention in a fertilized soil leached for 90 days in a column experiment. Changes in N-cycling-related enzyme and bacterial structure were also reported after 90 days. Results revealed low leaching losses of NH4+, which reduced over time across all the treatments. However, while sole fertilizer (F) increased the initial and cumulative NO3- leached from the soil, the MgO-bamboo biochar (MgOBF) and sepiolite-bamboo biochar (SBF) treatments reduced leachate NO3- by 22.1 % and 10.5 % compared to raw bamboo biochar (BBF) treatment. However, 15.5 % more NO3- was leached from the MgO-pig manure biochar-treated soil (MgOPF) compared to its raw biochar treatment (PMBF) after 90 days. Dissolved organic N leached was reduced by 9.2 % and 0.5 % in MgOBF and SBF, as well as 15.4 % and 40.5 % in MgOPF and SPF compared to their respective raw forms. The total N of the biochars, adjustment of surface charges, cation exchange capacity, surface area, pore filling effects, and the formation of potential MgN precipitates on the modified-biochar surfaces regulated N leaching/retention. In addition, the modified biochar treatments reduced the hydrolysis of urea and stimulated some nitrate-reduction-related bacteria crucial for NO3- retention. Hence, unlike the raw biochar and MgOPF treatments, MgOBF, SBF, and SPF hold promise in mitigating inorganic-N losses from fertilized soils while improving the soil's chemical properties.

Established risk prediction models for the incidence of a low lean tissue index in patients with peritoneal dialysis.

OBJECTIVE: The objective of this study is to investigate the incidence of low lean tissue index (LTI) and the risk factors for low LTI in peritoneal dialysis (PD) patients, including to establish risk prediction models. METHODS: A total of 104 PD patients were enrolled from October 2019 to 2021. LTI was measured by bioimpedance spectroscopy. Multivariate logistic regression and machine learning were used to analyze the risk factors for low LTI in PD patients. Kaplan-Meier analysis was used to analyze the survival rate of patients with low LTI. RESULTS: The interleukin-6 (IL-6) level, red cell distribution width (RDW), overhydration, body mass index (BMI), and the subjective global assessment (SGA) rating significantly differed between the low LTI and normal LTI groups (all p < 0.05). Multivariate logistic regression showed that IL-6 (1.10 [95% CI: 1.02-1.18]), RDW (1.87 [95% CI: 1.18-2.97]), BMI (0.97 [95% CI: 0.68-0.91]), and the SGA rating (6.33 [95% CI: 1.59-25.30]) were independent risk factors for LTI. Cox regression analysis showed that low LTI (HR 3.14, [95% CI: 1.12-8.80]) was the only significant risk factor for all-cause death in peritoneal dialysis patients. The decision process to predict the incidence of low LTI in PD patients was established by machine learning, and the area under the curve of internal validation was 0.6349. CONCLUSIONS: Low LTI is closely related to mortality in PD patients. Microinflammatory status, high RDW, low BMI and low SGA rating are risk factors for low LTI in PD patients. The developed prediction model may serve as a useful tool for assessing low LTI in PD patients.

miR-146a promotes M2 macrophage polarization and accelerates diabetic wound healing by inhibiting the TLR4/NF-κB axis.

We tried to unveil the clinical significance of miR-146a as a biomarker in M2 macrophage polarization in diabetic wound healing. Initially, we found reduced miR-146a in macrophages of diabetic patients. Next, dual-luciferase assay verified that toll-like receptor 4 (TLR4) was a target gene of miR-146 and was negatively regulated by miR-146. Moreover, after ectopic expression and depletion experiments of miR-146 and/or TLR4, lipopolysaccharide-induced inflammatory response of macrophages was detected. The results revealed that overexpression of miR-146a promoted the M2 macrophage polarization by suppressing the TLR4/nuclear factor-kappaB (NF-κB) axis, so as to enhance wound healing in diabetic ulcers. Further, mouse models with diabetic ulcers were established to investigate the effects of miR-146a on diabetic wound healing in vivo, which revealed that miR-146a promoted wound healing in diabetic ulcers by inhibiting the TLR4/NF-κB axis. In conclusion, we demonstrate that miR-146a can induce M2 macrophage polarization to enhance wound healing in diabetic ulcers by inhibiting the TLR4/NF-κB axis.

Field-applied biochar-based MgO and sepiolite composites possess CO2 capture potential and alter organic C mineralization and C-cycling bacterial structure in fertilized soils.

Agricultural soils contribute a significant amount of anthropogenic CO2 emission, a greenhouse gas of global environmental concern. Hence, discovering sustainable materials that can capture CO2 in cultivated soils is paramount. Since the effect of biochar on C mineralization/retention in fertilized soils is unclear, we produced biochar-based MgO and sepiolite-nanocomposites with CO2 capture potential. The field-scale impacts of the modified-biochars were evaluated on net C exchange rate (NCER) periodically for 3 months in fertilized plots. The effects of the modified-biochar on organic-C mineralization, the activities, and dynamics of C-cycling-related 16S rRNA which are unknown, were investigated. Results revealed an initial rapid and higher cumulative CO2 emission from the sole fertilizer treatment (F). Unlike the biochar treatment (BF), the successful incorporation of MgO/Mg(OH)2 nanoparticles into the matrix and surface of biochar, and the potential formation of MgCO3 with soil CO2, mitigated CO2 emission, especially in the MgO-modified biochar (MgOBF), compared to the sepiolite-biochar treatment (SBF). Compared to F and BF, the higher C retention as MgCO3 in the modified biochar treatments led to an increase in cellulase activity, stimulation of key C-cycling-related bacteria, and the expression of genes associated with starch, sucrose, amino sugar, nucleotide sugar, ascorbate, aldarate, cellulose, and chitin degradation, thus, increasing organic C mineralization. Among the modified-biochar treatments, higher C mineralization was recorded in SBF, resulting in increased cumulative CO2 emission, despite its initial capture for up to 42 days. However, MgOBF was effective in capturing soil-derived CO2, despite the increased C mineralization compared to biochar. The changes in soil moisture and temperature significantly regulated NCER. Also, the modified biochars positively influenced the distribution of C-cycling-related bacteria by improving soil pH and available nutrients. Among the modified biochars, the observed higher mitigation effect of MgOBF on NCER indicated that it could be preferably applied in agricultural soils.

Biochar-fertilizer interaction modifies N-sorption, enzyme activities and microbial functional abundance regulating nitrogen retention in rhizosphere soil.

The impact of the excessive use of N fertilizer remains an environmental problem of global concern. The effect of biochar on soil N retention is still unclear, and knowledge on how a mixture of biochar and fertilizer (B-F) influence N-sorption, N-cycling enzymes activities, diversity and functional abundance of organisms regulating N-retention in rhizosphere soil is poorly understood. Therefore, biochars derived from bamboo, rice straw, cow and pig manure were characterized, and their interactions with NPK fertilizer were evaluated. Results showed that while the effect of biochar on N retention varied among biochar types, such variations increased after B-F. Unlike NH4+ retention, NO3- retention by biochar in fertilized soil was poor (<8 weeks), but were however increased after longer periods (15 weeks) in B-F due to plant uptake, sorption and stimulation of N-cycling enzymes activities. This stimulation proved that N-fertilizer provided substrates for N-cycling organisms which was confirmed by the dominance of Proteobacteria, Chloroflexi, Actinobacteria, and Gemmatimonadetes which are important in soil N-cycling, despite the reductions in total diversity, class, phyla and genera abundance of bacterial 16SrRNA genes by B-F. This suggested that B-F induced specific organisms involved in N-cycling, which out-competed other organisms not involved in N-cycling. The provision of substrates by N-fertilizer in B-F for bacterial groups involved in N-cycling modified the rhizosphere microbial structure. The abundance of N-cycling organisms was regulated by the persistence among dominant groups, soil pH, total N, and microbial colonization induced by different biochars interacting with fertilizer which led to enhanced N-retention.

FePt/GO Nanosheets Suppress Proliferation, Enhance Radiosensitization and Induce Autophagy of Human Non-Small Cell Lung Cancer Cells.

With the advancement of nanotechnology, various nanocomposites have been applied in the diagnostics and treatment of cancer. We synthetized FePt nanoparticles which were assembled on the surface of graphene oxide (GO). These novel FePt/GO nanosheets simultaneously act as a chemotherapy drug and enhance radiosensitivity. In this study, transmission electron microscope, dynamic light scattering, X-ray photoelectron spectroscope and Fourier transform infrared spectroscopy were used to characterize surface morphology and chemical composition of FePt/GO nanosheets (NSs). Their cytotoxicity in various cancer and normal cells was evaluated by cell counting kit-8 assay, and their effects on radiosensitization were determined by colony formation assay. To explore the underlying mechanisms, we measured the intracellular reactive oxygen species levels and autophagy formation. Monodansylcadaverine-staining, Western Blotting and ultrastructure analysis were utilized to assess autophagy. The results demonstrated that FePt/GO NSs not only selectively suppressed the proliferation of cancer cells, but also increased their radiosensitization. Moreover, FePt/GO NSs induced autophagy, which might result in promoted sensibilization of radiotherapy. In conclusion, with good safety and efficacy, FePt/GO NSs are safe and effective to suppress proliferation, enhance radiosensitization and induce autophagy of human non-small cell lung cancer cells. They are potential for the treatment of lung cancer.

Comparative transcriptome among Euscaphis konishii Hayata tissues and analysis of genes involved in flavonoid biosynthesis and accumulation.

BACHGROUND: Euscaphis konishii Hayata, a member of the Staphyleaceae Family, is a plant that has been widely used in Traditional Chinese Medicine and it has been the source for several types of flavonoids. To identify candidate genes involved in flavonoid biosynthesis and accumulation, we analyzed transcriptome data from three E. konishii tissues (leaf, branch and capsule) using Illumina Hiseq 2000 platform. RESULTS: A total of 91.7, 100.3 and 100.1million clean reads were acquired for the leaf, branch and capsule, respectively; and 85,342 unigenes with a mean length of 893.60 bp and N50 length of 1307 nt were assembled using Trinity program. BLASTx analysis allowed to annotate 40,218 unigenes using public protein databases, including NR, KOG/COG/eggNOG, Swiss-Prot, KEGG and GO. A total of 14,291 (16.75%) unigenes were assigned to 128 KEGG pathways, and 900 unigenes were annotated into 22 KEGG secondary metabolites, including flavonoid biosynthesis. The structure enzymes involved in flavonoid biosynthesis, such as phenylalanine ammonia lyase, cinnamate 4-hydroxylase, 4-coumarate CoA ligase, shikimate O-hydroxycinnamoyltransferase, coumaroylquinate 3'-monooxygenase, caffeoyl-CoA O-methyltransferase, chalcone synthase, chalcone isomerase, flavanone 3-hydroxylase, flavonoid 3'-hydroxylase, flavonoid 3',5'-hydroxylase, flavonolsynthese, dihydroflavonol 4-reductase, anthocyanidinreductase, leucoanthocyanidin dioxygenase, leucoanthocyanidin reductase, were identified in the transcriptome data, 40 UDP-glycosyltransferase (UGT), 122 Cytochrome P450 (CYP) and 25 O-methyltransferase (OMT) unigenes were also found. A total of 295 unigenes involved in flavonoid transport and 220 transcription factors (97 MYB, 84 bHLH and 39 WD40) were identified. Furthermore, their expression patterns among different tissues were analyzed by DESeq, the differentially expressed genes may play important roles in tissues-specific synthesis, accumulation and modification of flavonoids. CONCLUSION: We present here the de novo transcriptome analysis of E. konishii and the identification of candidate genes involved in biosynthesis and accumulation of flavonoid. In general, these results are an important resource for further research on gene expression, genomic and functional genomics in E. konishii and other related species.

Evaluating the mechanisms of the impacts of key factors on soil soluble organic nitrogen concentrations in subtropical mountain ecosystems.

Soil soluble organic nitrogen (SON) concentrations in terrestrial ecosystems were influenced differently and substantially by both biotic and abiotic factors. This study aimed to ascertain the mechanisms of the impact of the key factors on the SON concentrations of subtropical mountain ecosystems in southeastern China using an integrative approach, which combined a field plot survey, gray relational analysis and structure equation modeling. The results showed that the soil organic matter, clay content, protease activity and bacterial biomass were the key factors controlling the dynamics of the SON concentrations in subtropical mountain ecosystems. Protease activity, by catalyzing the degradation of complex organic nitrogen to SON, had the highest direct influence on the SON concentrations among all of the impact factors with direct impact effect of 0.44. Organic matter, which serves as a primary source of SON and can increase soil protease activity and bacterial biomass, contributed the most significantly to the SON concentrations in both direct and indirect pathways with total impact effects of 0.87. Clay, by adsorbing SON and affecting organic matter accumulation and protease activity, also had important direct or indirect influences on the SON concentrations with total impact effects of 0.48. The impact of the bacterial biomass on the SON concentrations was likely to be concealed by accompanying nitrogen-degrading enzyme activity with total impact effects of 0.22. Thus, the organic matter, clay content and protease activity exerted greater total impact effects on the SON concentrations compared with the bacterial biomass. Protease activity and organic matter had a greater positive direct impact on the SON concentrations compared with the bacterial biomass and clay content, while organic matter also had greater positive indirect impacts on the SON concentrations than did the clay content. This study's results could help to elucidate the differential mechanism of SON dynamics among various terrestrial ecosystems.

Sequencing of Euscaphis konishii Endocarp Transcriptome Points to Molecular Mechanisms of Endocarp Coloration.

Flower and fruit colors are of vital importance to the ecology and economic market value of plants. The mechanisms of flower and fruit coloration have been well studied, especially among ornamental flower plants and cultivated fruits. As people pay more attention to exocarp coloration, the endocarp coloration in some species has often been ignored. Here, we report on the molecular mechanism of endocarp coloration in three development stages of Euscaphis konishii. The results show that endocarp reddening is closely related to anthocyanin accumulation, and a total of 86,120 unigenes were assembled, with a mean length of 893 bp (N50 length of 1642 bp). We identified a large number of differentially expressed genes associated with endocarp coloration, including anthocyanin biosynthesis, carotenoid biosynthesis, and chlorophyll breakdown. The genes participating in each step of the anthocyanin biosynthesis were found in the transcriptome dataset, but a few genes were found in the carotenoid biosynthesis and chlorophyll breakdown. In addition, the candidate R2R3-MYB transcription factors and candidate glutathione S-transferase transport genes, which likely regulate the anthocyanin biosynthesis, were identified. This study offers a platform for E. konishii functional genomic research and provides a reference for revealing the regulatory mechanisms of endocarp reddening.

Clinicopathologic features of sporadic inclusion body myositis in China.

This study is to investigate the clinical and pathologic features of sporadic inclusion body myositis (sIBM) in China. We retrospectively evaluated the clinical and pathological features of consecutive patients in our department between January 1986 to May 2012. Total 28 cases of sIBM (20 males, 8 females, mean age was 56.93±8.79) were obtained by review of all 4099 muscle biopsy reports. The proportion of sIBM was 0.68% (28/4099) in China. Muscle weakness of quadriceps appeared 100% in 28 cases, while conspicuous atrophy of quadriceps appeared only in five cases (17.86%). Creatase values of 28 patients with sIBM were normal or mildly elevated. Muscle biopsies showed that atrophic fibers resembled more frequent in small angular and irregular shape (82.14%), less common in small round shape (17.86%). Rimmed vacuoles resembled crack (67.86%) and round (32.14%) shape. Mononuclear cell invasion into necrotic muscle fibers (35.71%) was more frequent than non-necrotic muscle fibers (7.14%). sIBM was still a rare disease in China compared to other countries. There were some certain specific pathological characteristics existed in Chinese sIBM patients.

CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy.

OBJECTIVE: Dysferlin is a sarcolemmal protein that plays an important role in membrane repair by regulating vesicle fusion with the sarcolemma. Mutations in the dysferlin gene (DYSF) lead to multiple clinical phenotypes, including Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and distal myopathy with anterior tibial onset (DMAT). Patients with dysferlinopathy also show muscle inflammation, which often leads to a misdiagnosis as inflammatory myopathy. In this study, we examined and analyzed the dyferlinopathy-associated immunological features. METHODS: Comparative immunohistochemical analysis of inflammatory cell infiltration, and muscle expression of MHC-I and C5b-9 was performed using muscle biopsy samples from 14 patients with dysferlinopathy, 7 patients with polymyositis, and 8 patients with either Duchenne muscular dystrophy or Becker muscular dystrophy (DMD/BMD). RESULTS: Immunohistochemical analysis revealed positive staining for immune response-related CD4+ cells, macrophages, MHC-I and C5b-9 in dysferlinopathy, which is in a different mode of polymyositis and DMD/BMD. CONCLUSION: These results demonstrated the involvement of immune factors in the pathogenesis of dysferlinopathy.

Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.

Mutations in the dynamin-2 (DNM2) gene can cause autosomal dominant or sporadic centronuclear myopathy (CNM). We aimed to analyze the clinical, pathological and genetic characteristic of patients with DNM2-related CNM in China. We studied seven patients, all of whom underwent clinical examination, muscle biopsy, electromyography, and genetic tests. DNM2 gene analysis revealed two sporadic patients harboring the p.E368K mutation, two patients from one family carrying p.R369Q, one with p.R369W, one with p.R523G and one with compound heterozygous mutations of p.R522H and p.R718Q. In DNM2-related CNM, ptosis, ophthalmoplegia/paresis, and facial weakness are the frequently observed manifestations. However, among these seven patients, only one had bilateral ptosis; one, external ophthalmoplegia and one, facial weakness. Muscle biopsy showed that the percentage of muscle fibers with centrally located nuclei ranged from 67 to 93 %, all with radial sarcoplasmic strands. To date, five different CNM-related DNM2 mutations have been observed in China. Here, a patient with compound heterozygous DNM2 mutations was reported for the first time. Facial weakness, ptosis and ophthalmoplegia did not appear to be common in Chinese patients. This study on Chinese patients broadens the spectrum of DNM2-related CNM.

Proteomic study of sporadic inclusion body myositis.

BACKGROUND: Sporadic inclusion body myositis (s-IBM) is the most commonly occurring acquired inflammatory myopathy in elderly people (>45 years); however, pathogenic mechanisms are poorly understood and diagnostic tools are limited. In view of this, new therapeutic and diagnostic molecular markers for s-IBM need to be identified. EXPERIMENTAL DESIGN: In this study, the proteomes from three s-IBM cases were compared with those from three cases of neurogenic muscular atrophy (control). Proteins were separated by 2-dimensional polyacrylamide gel electrophoresis and profiled by mass spectrometric sequencing and subsequently validated by western blot. RESULTS: Differential expression was noted in 29 proteins (16 upregulated and 13 downregulated) in s-IBM compared with the control group. Functions of these proteins include oxidative stress response, regulation of apoptosis, signal transduction, and cytoskeleton. Expression of both amyloid precursor protein (APP) and αB-crystallin was increased in s-IBM cases. CONCLUSIONS: Our study reveals a unique pattern of protein expression in s-IBM, which should be further investigated in a wider cohort of IBM patients to fully realize the potential diagnostic or therapeutic benefits.

[Role of C5b-9 expression in skeletal muscle blood vessels in necrotizing myopathy].

OBJECTIVE: To investigate the expression of C5b-9 in the skeletal muscle blood vessels in patients with necrotizing myopathy and explore its role in the pathogenesis of this disease. METHODS: The expression of C5b-9 and MHC-I in the skeletal muscular fibers and blood vessels in 4 patients with necrotizing myopathy was detected using enzymohistochemistry and immunohistochemistry. RESULTS: Focal or dispersive necrotic muscle fibers with obvious phagocytosis were observed in all the 4 patients. No inflammatory cell infiltration was found in the perimysium or perivascular regions. HE staining showed a decreased number of local small blood vessels, and the some small blood vessels showed thickened vascular walls. Immunohistochemistry detected prominent C5b-9 expression in the necrotic muscle fibers and the blood vessels, and diffuse strong C5b-9 expression was found in the vascular walls, vascular endothelial cells and the smooth muscle layer. No MHC-I deposition was detected in the muscular fibers and blood vessels. CONCLUSION: C5b-9 contributes to the pathogenesis of necrotizing myopathy mediated by pathologies in the blood vessels.

Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.

OBJECTIVES: Distal myopathy with rimmed vacuoles (DMRV) is a typical autosomal recessive hereditary inclusion body myopathy, characterized by slowly progressive distal muscle weakness with relative sparing of the quadriceps. This study aimed to investigate the variability of clinical and morphological presentation and the spectrum of Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) mutations in Chinese DMRV patients. METHODS: We retrospectively reviewed the medical records of 37 patients with DMRV in PLA General Hospital from 1986 to 2011, and further conducted a review of 16 reported Chinese DMRV patients from other hospitals. We systematically analyzed the clinical, muscle morphological features and GNE gene mutation status of all DMRV patients. RESULTS: A total of 53 DMRV patients were studied. Fourteen cases had family history and other 39 cases were sporadic. Fifteen cases showed atypical pathological presentation as mononuclear cell invasion into necrotic or non-necrotic muscle fibers. Rare initial symptom, earlier age of onset and more dysmorphic presentations were shown in sporadic patients. Eighteen mutations in GNE gene were identified. c.317T>C (p.I106T) was a novel GNE gene mutation. c.1892C>T (p.A631V), c.527A>T (p.D176V) and c.1523T>C (p.L508S) were the common GNE mutations in Chinese DMRV patients. DISCUSSION: The clinical, pathological and genetic characteristics of DMRV are distinct in Chinese patients.

[Familial and sporadic distal myopathy with rimmed vacuoles: comparison of the clinical, pathological, laboratory test and follow-up data].

OBJECTIVE: To compare the clinical, pathological, laboratory test and follow-up data between familial and sporadic patients with distal myopathy with rimmed vacuoles (DMRV) and discuss the characteristics of this disorder in Chinese population. METHODS: The clinical and pathological features, laboratory data and follow-up results of 33 sporadic and 4 familial cases of pathologically confirmed DMRV were summarized and compared retrospectively. RESULTS: The patients age, onset age, or disease duration showed no significant difference between sporadic and familial cases; the onset pattern and affected muscle groups were also similar, but the sporadic cases showed more frequent dysmorphic features than the familial cases. The patients showed mild to moderate elevation of the muscle enzymes by one to three folds, and the familial patients had more significant elevation than the sporadic ones. No correlation was found between the disease duration and the level of muscle enzymes. The pathological findings were similar between the cases, and Gomori staining showed rimmed vacuoles and inclusion bodies without inflammatory cell infiltration. Follow-up results of 29 cases showed no significant difference between the two groups. The disease was slowly progressive and severely affected the quality of life of the patients, but did not produce obvious effect on the life expectancy. CONCLUSION: The clinical, pathological and laboratory data of Chinese DMRV patients are basically similar to those of Japanese cases. Sporadic cases tend to show more dysmorphic features than the familial ones, and occasional sporadic cases have early disease onset in early childhood.

[MyoD mRNA expression in skeletal muscle of patients with myotonic dystrophy].

OBJECTIVE: To explore the mRNA expression of MyoD gene in the skeletal muscles of myotonic dystrophy (MD) patients. METHODS: Muscle biopsy specimens were obtained from the biceps muscles of arm of 4 MD patients and 4 healthy controls. Semi-quantitative reverse transcription polymerase chain reaction was performed to evaluate the mRNA expression of MyoD in the specimens. RESULTS: The mRNA expression index of MyoD of the MD patients was (0.267 +/- 0.114), significantly lower than that of the healthy controls [(0.788 +/- 0.136), P = 0.001]. CONCLUSION: Down-regulated mRNA expression of MyoD gene is involved in the mechanism of DM.

[Changes of blood coagulative and fibrinolytic system and function of pulmonary vascular endothelium after therapy in patients with acute pulmonary thromboembolism].

OBJECTIVE: To study the changes of blood coagulative and fibrinolytic system and the function of pulmonary vascular endothelium in the course of acute pulmonary thromboembolism (PTE) and after anticoagulant or thrombolytic treatment. METHODS: Twenty patients with acute non-massive PTE, 10 males and 10 females, aged (57 +/- 11) underwent anticoagulant treatment and 17 sex-, and age-matched acute massive PTE patients underwent thrombolytic treatment. The plasma level of D-dimer (D-D), thrombomodulin (TM), protein C (PC), protein S (PS), tissue-type plasminogen activator (t-PA), plasminogen activator inhibitor-1 (PAI-1), and antithrombin-III (AT-III) activity were measured by ELISA before and after normal subjects severed as control group were included in the study. The plasma level of D-D, PS, PC, TM, t-PA and PAI-1 were measured by a method of ELISA before the treatment and six days after the anticoagulant treatment or 24 hours after the thrombolytic treatment. AT-III activity was measured by chromo-substrate method at the same time points. Forty sex- and age-matched healthy persons were used as controls. RESULTS: The plasma levels of D-D, t-PA, PS, and TM level of the anticoagulant group were all significantly higher and the AT-III activity of the 2 treatment groups was significantly lower than those of the controls before treatment (all P < 0.05); the plasma levels of D-D, t-PA, PAI-1, PS, and TM of the thrombolytic group were ala significantly higher and the AT-III activity was significantly lower than those of the control group before the treatment (all P < 0.05). After anticoagulant therapy, the plasma levels of D-D, t-PA, PS, and PC were significantly lower than those before treatment (all P < 0.05), however, the plasma levels of PAI-1, TM, and AT-III activity after treatment did not differ significantly from those before treatment. The plasma levels of D-D, t-PA, PS, PC, and TM after treatment of the thrombolytic group were all significantly lower than those before treatment (all P < 0.05), however, the plasma levels of PAI-1, TM, and AT-III activity after treatment did not differ significantly from those before treatment. CONCLUSION: Apparent imbalance in the blood coagulative and fibrinolytic system and pulmonary vascular endothelium damage occur in the patients with acute PTE. Combination tests of plasma D-D, AT-III, PS, PC, TM, t-PA and PAI-1 can give a more comprehensive explanation of the imbalance in the blood coagulative and fibrolytic system. Anticoagulant treatment and thrombolytic treatment play important roles in the regulation of the imbalance of coagulative and fibrinolytic system and protection of the function of pulmonary vascular endothelium of PTE patients.