Objective　 Perform gene diagnosis for Chinese facioscapulohumeral muscular dystrophy(FSHD). Methods　 Digest genome DNA with restriction enzymes EcoRⅠ only and EcoRⅠ associated with BlnⅠ. Use 0.6% agarose gel electrophoresis and Southern blotting hybridization with probe P13E11. Results　 For FSHD patients, the sizes of EcoRⅠ+BlnⅠ/P13E11 DNA fragments ranged from 15kb to 33kb. For normal controls, they were over 41kb. Two presymptomatic patients were found. Conclusion　 It is feasible to perform gene diagnosis and presymptomatic diagnosis for most Chinese FSHD patients by Southern blotting hybridization with probe P13E11, following double digestion of genome DNA with restriction enzymes EcoRⅠ and BlnⅠ.

Sudden unexplained nocturnal death syndrome （SUNDS） is always a difficulty in forensic medicine researches. Although the development of molecular genetics promotes the etiologic study of SUNDS, the pathogenesis of most such cases is still unclear. Sleep apnea syndrome （SAS） is one of the common forms of sleep disorders, and obstructive sleep apnea hypopnea syndrome （OSAHS） is the most common. In recent years, some domestic and international researches show that OSAHS is related to the development of cardiovascular disease, which may cause cardiac arrhythmia, even sudden death. This article reviews the relationship between SUNDS and OSAHS and aims to provide new ideas for the pathogenesis of SUNDS.
Arrhythmias, Cardiac ; Brugada Syndrome/pathology* ; Death, Sudden/etiology* ; Humans ; Male ; Sleep Apnea, Obstructive/pathology*

Duchenne muscular dystrophy (DMD) is a fatal, genetic neuromuscular disorders that manifests as progressive muscle wasting. Although there has been enormous progress in the studies of the molecular mechanism of muscular dystrophy, there is still no cure. Cell-based therapy is a promiseful option. This review will focus on the present status of cell-based therapy. Myoblast transfer therapy is hindered by minimal distribution of cells after injection, immune rejection, and poor cell survival. The drawback of bone marrow-derived stem cell transplantation is the low efficiency of transdifferentiation. Compared with them, the injection of postnatal muscle-derived stem cells (MDSC) results in a superior regeneration of dystrophin-expressing myofibers.
Animals ; Bone Marrow Cells ; cytology ; Humans ; Muscle, Skeletal ; cytology ; Muscular Dystrophy, Duchenne ; therapy ; Myoblasts, Skeletal ; transplantation ; Stem Cell Transplantation ; methods

A total of 101 patients undergoing operations for malignant gastrointestinal tumors (stage Ⅱ to Ⅲ) were enrolled and randomly assigned to receive intraperitoneal hyperthermal chemotherapy plus intravenous chemical injection (treatment group, n=51) or routine intravenous chemical injection (control group, n=50). Our results indicated that the recurrence rate and the metastatic rate in the treatment group were significantly lower than those in the control group (25.5% vs. 50.0%, 13.7% vs. 30.0%, both P< 0. 05), although the 3-and 5 year-survival rates were significantly higher (both P < 0. 05). Our data suggest that intraperitaneal hyperthermal chemotherapy plus general chemotherapy after surgery for malignant gastrointestinal tumors could effectively reduce tumor recurrence and metastases and improve long-term survival.

Sixty-one patients with moderate to severe malignant ascites were enrolled and randomly assigned to receive intraperitoneal hyperthermal chemotherapy+intravenous chemical injection (treatment group; n=31) or routine intravenous chemical injection (control group; n=30). Short-term response and reverse effects were observed. Our results indicated that the complete remission rate, part remission rate,and clinical benefit rate in the treatment group was significantly higher than those in the control group (38.71% vs 13.33% ,41.94% vs 16. 67%, and 90.32% vs 66.67%, respectively). No difference in reverse effects was found between the two groups. Our data suggest that intraperitoneal hyperthermal chemotherapy plus general chemotherapy may effectively control the malignant ascites, and the reverse effects might be well tolerated.

Duchenne muscular dystrophy (DMD) is a lethal muscular disorder caused by mutations in the dystrophin gene for which no mutation targeted therapy has been available so far. However, a new method named exon-skipping mediated by antisense oligonucleotides has considerable potential for DMD therapy. In this review, the principle, basic research and clinical research of exon-skipping are mainly summarized.
Animals ; Exons ; genetics ; Humans ; Muscular Dystrophy, Duchenne ; genetics ; therapy ; Oligonucleotides, Antisense ; genetics

OBJECTIVETo investigate the expression of retinoblastoma-associated protein 46 (RbAp46) or RbAp 46 mRNA in bone marrow mononuclear cells (BMMNC) of acute leukemia (AL) patients and determine whether the expression is related to the classification and prognosis of ALs.

METHODSThe expression of RbAp46 protein in BMMNC was detected by Western blot in 46 AL patients and the expression of RbAp46 mRNA in BMMNC by semi-quantitative RT-PCR in 22 AL patients. The indirect immunofluorescence staining technique was applied to the localization of RbAp46 protein in BMMNC both in leukemia patients and control subjects.

RESULTS(1) Both RbAp46 protein and mRNA were expressed in AL BMMNC and no significant difference was found among different leukemia types. (2) The expression of RbAp46 protein was lower in AL patients with high-degree tumor burden than in those with low-degree tumor burden (mean A, 93.4 +/- 37.2 vs 127.2 +/- 15.8, P < 0. 05). (3) The expression of RbAp46 protein was lower in refractory leukemia than those in non-refractory leukemia (mean A, 87.1 +/- 33.8 vs 126.6 +/- 21.2, P < 0. 05). (4) The expression of RbAp46 mRNA was lower in AL patients with high-degree tumor burden than in those with low-degree tumor burden (mean A R, 0.19 +/- 0.08 vs 0.31 +/- 0.12, P < 0. 05). (5) RbAp46 protein was mainly localized in nucleus of BMMNC in both AL patients and control subjects.

CONCLUSIONBoth RbAp46 protein and mRNA are expressed in AL patients BMMNC. The downregulation of RbAp46 expression is associated with high leukemic burden and refractory to treatment. RbAp46 gene might be a tumor suppressor gene for leukemia.

Acute Disease ; Adolescent ; Adult ; Aged ; Blotting, Western ; Bone Marrow Cells ; metabolism ; Carrier Proteins ; genetics ; metabolism ; Female ; Fluorescent Antibody Technique, Indirect ; Humans ; Leukemia ; blood ; pathology ; Male ; Middle Aged ; Nuclear Proteins ; genetics ; metabolism ; Prognosis ; RNA, Messenger ; genetics ; metabolism ; Retinoblastoma Protein ; genetics ; metabolism ; Retinoblastoma-Binding Protein 7 ; Reverse Transcriptase Polymerase Chain Reaction ; Young Adult

OBJECTIVETo study the effect of Xiangdan injection (XDI) in inducing adult SD rat marrow mesenchymal stem cells (rMSCs) orientedly differentiated into neuron-like cells, its characteristics and influencing factors were explored.

METHODSThe 5th generation of rMSCs cultured in vitro were pre-treated for 24 hrs by adding basic fibroblast growth factors (bFGF) into the medium, then the inducing liquid was replaced by XDI with different concentration to compare the rMSCs differentiation rate under different constitution of medium, different concentration of inducer and cell density of incubation. The induced cell survival rate under effects of above-mentioned factors was evaluated by trypan blue stain and MTT method.

RESULTSXDI in 1% - 5% concentration could induce rMSCs differentiated into neuron-like cells, the inducing rate reached 83.5 +/- 3.8% 6 - 12 hrs later, more than 90% cells, survival rate was over 36 hrs. The maximal inducing rate and cell survival rate could be obtained by treated with 3 % - 5% XDI, serum-free D/F12 + N2 + bFGF and with the cell density in 2.5 x 10(4)/cm2, when the other factors were the same.

CONCLUSIONXDI of 3% - 5% concentration, serum-free D/ F12 + N2 + bFGF (10 microg/L) and with the cell density incubated of 2.5 x 10(4)/cm2 is the optimal condition for oriented induction of rMSCs differentiating to neuron-like cells.

Animals ; Bone Marrow Cells ; cytology ; Cell Differentiation ; drug effects ; Cell Division ; drug effects ; Cells, Cultured ; Drugs, Chinese Herbal ; pharmacology ; Female ; Fibroblast Growth Factor 2 ; pharmacology ; Male ; Mesenchymal Stromal Cells ; cytology ; Nerve Tissue Proteins ; metabolism ; Neurons ; cytology ; Rats ; Rats, Sprague-Dawley

Objective　To understand the distributional characteristics of dystrophin gene deletion breakpoints in “central deletion hot spot” and analyze the instability of introns 44-51 after excluding the effect of intron's length. Methods　Fifty-nine Duchenne/Becker muscular dystrophy(DMD/BMD) patients were detected by polymerase chain reactions with the primers to amplify exons 44-52 of dystrophin gene. The amount of actual breakpoints, expected breakpoints according to its length, and the ratios of actual breakpoints to expected values(A/E) for introns 44-51 were calculated respectively. Results　 In “central deletion hot spot”, about 30.8% of breakpoints fell in intron 44, about 23.1%, 17.9%, 10.3%, 10.3% of breakpoints fell in introns 50,51, 45, 48, respectively. But the amount of actual breakpoints of intron 44 was less than that of expected breakpoints according to its length, the ratio of A/E was 0.7. The amount of actual breakpoints of introns 48, 50, 51, 45 were more than that of length expected value. The ratios of A/E were 2.7, 2.0, 1.9, 1.1, respectively. Conclusion　 Intron 44 is more stable than the whole molecular region of “central deletion hot spot”. Introns 48, 50 and 51 are comparatively instable in “central deletion hot spot”.

【Objective】 To explore the differences of clinical medicine ，magnetic resonance imaging（MRI）and pathology in multifocal and multicentric breast cancer（MMBC）and unifocal breast cancer（UBC）. 【Methods】 In this retrospective analysis，55 MMBC and 68 UBC patients with pathology confirmed from April 2016 to February 2018 were enrolled，and the characteristics and difference of routine pathological types，molecular subtypes and MR enhancement types were compared. The relationships between MMBC ，UBC and the methods of clinical treatment were studied by correspondence analysis（CA）.【Results】Significant difference was observed between routine pathological types of MMBC and UBC（P < 0.001）. The high grade invasive ductal carcinoma was more frequent in maximal lesions of MMBC than in UBC lesions，whereas there was no statistical correlation between molecular subtypes，molecular subtypes and MR enhancement types（P = 0.265，P = 0.152）. However，there was statistical difference in masses enhancement（P = 0.013）. CA showed that the molecular subtypes of MMBC and UBC were the key factors for clinical treatment. In addition ，HER- 2（+）and Luminal B type breast cancer showed high correlation with treatment method，while triple-negative showed low correlation with treatment method.【Conclusions】The pathology types of the maximal lesions of MMBC were less aggressive than UBC lesions. There was significant correlation between clinical treatment and molecular subtypes of MMBC and UBC. Therefore，individualized treatments are recommended on the basis of biological characteristics in both MMBC and UBC.