Genetic analysis and reproductive intervention of 7 families with gonadal mosaicism for Duchenne muscular dystrophy / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for 7 families with gonadal mosaicism for Duchenne muscular dystrophy (DMD).@*METHODS@#For the 7 families presented at the CITIC Xiangya Reproductive and Genetic Hospital from September 2014 to March 2022, clinical data were collected. Preimplantation genetic testing for monogenic disorders (PGT-M) was carried out for the mother of the proband from family 6. Peripheral venous blood samples of the probands, their mothers and other patients from the families, amniotic fluid samples from families 1 ~ 4 and biopsied cells of embryos cultured in vitro from family 6 were collected for the extraction of genomic DNA. Multiplex ligation-dependent probe amplification (MLPA) was carried out for the DMD gene, and short tandem repeat (STR)/single nucleotide polymorphism (SNP)-based haplotypes were constructed for the probands, other patients, fetuses and embryos.@*RESULTS@#The results of MLPA showed that the probands and the fetuses/probands' brothers in families 1 ~ 4, 5, 7 had carried the same DMD gene variants, whilst the probands' mothers were all normal. The proband in family 6 carried the same DMD gene variant with only 1 embryo (9 in total) cultured in vitro, and the DMD gene of the proband's mother and the fetus obtained through the PGT-M were normal. STR-based haplotype analysis showed that the probands and the fetuses/probands' brothers in families 1 ~ 3 and 5 have inherited the same maternal X chromosome. SNP-based haplotype analysis showed that the proband from family 6 has inherited the same maternal X chromosome with only 1 embryo (9 in total) cultured in vitro. The fetuses in families 1 and 6 (via PGT-M) were both confirmed to be healthy by follow up, whilst the mothers from families 2 and 3 had chosen induced labor.@*CONCLUSION@#Haplotype analysis based on STR/SNP is an effective method for judging gonad mosaicism. Gonad mosaicisms should be suspected for women who have given births to children with DMD gene variants but with a normal peripheral blood genotype. Prenatal diagnosis and reproductive intervention may be adapted to reduce the births of further affected children in such families.

Effect of augmented reality training based on enriched environment on walking function after stroke / 中国康复理论与实践

ObjectiveTo observe the effect of augmented reality training based on enriched environment on walking dysfunction after stroke. MethodsFrom January, 2021 to June, 2022, 36 stroke patients in the Affiliated Suzhou Hospital of Nanjing University Medical School were randomly divided into control group (n = 18) and experimental group (n = 18). Both groups received conventional rehabilitation treatment. The control group was supplemented with conventional walking training, and the experimental group was supplemented with augmented reality training based on enriched environment, for four weeks. They were assessed with Berg Balance Scale (BBS), Timed Up and Go Test (TUGT), 10-meter walk test (10MWT) and Barthel Index (BI) before and after treatment, and the gait parameter was compared. ResultsNo adverse event occurred during treatment. After treatment, the BBS score, TUGT time, 10MWT speed, BI, gait speed, gait frequency and the proportion of single-leg support on the affected side significantly improved in both groups (|t| > 5.161, P < 0.001). All the above indexes were better in the experimental group than in the control group (|t| > 2.106, P < 0.05), except for BI (t = 1.099, P = 0.282). ConclusionAugmented reality training based on enriched environment could improve the walking function of paitents after stroke, which is better than conventional walking training.

Protective effects and mechanism of coenzyme Q10 and vitamin C on doxorubicin-induced gastric mucosal injury and effects of intestinal flora

Doxorubicin (Dox) is widely used to the treatment of cancer, however, it could cause damage to gastric mucosa. To investigate the protective effects and related mechanisms of coenzyme Q10 (CoQ10) and vitamin C (VC) on Dox-induced gastric mucosal injury, we presented the survey of the 4 groups of the rats with different conditions. The results showed Dox treatment significantly induced GES-1 apoptosis, but preconditioning in GES-1 cells with VC or CoQ10 significantly inhibited the Dox-induced decrease and other harm effects, including the expression and of IκKβ, IκBα, NF-κB/p65 and tumor necrosis factor (TNF-α) in GES-1 cells. Moreover, high-throughput sequencing results showed Dox treatment increased the number of harmful gut microbes, and CoQ10 and VC treatment inhibited this effect. CoQ10 and VC treatment inhibits Dox-induced gastric mucosal injury by inhibiting the activation of the IkKB/IκBα/NF-κB/p65/TNF-α pathway, promoting anti-inflammatory effects of gastric tissue and regulating the composition of the intestinal flora.

Protective effects and mechanism of coenzyme Q10 and vitamin C on doxorubicin-induced gastric mucosal injury and effects of intestinal flora

Doxorubicin (Dox) is widely used to the treatment of cancer, however, it could cause damage to gastric mucosa. To investigate the protective effects and related mechanisms of coenzyme Q10 (CoQ10) and vitamin C (VC) on Dox-induced gastric mucosal injury, we presented the survey of the 4 groups of the rats with different conditions. The results showed Dox treatment significantly induced GES-1 apoptosis, but preconditioning in GES-1 cells with VC or CoQ10 significantly inhibited the Dox-induced decrease and other harm effects, including the expression and of IκKβ, IκBα, NF-κB/p65 and tumor necrosis factor (TNF-α) in GES-1 cells. Moreover, high-throughput sequencing results showed Dox treatment increased the number of harmful gut microbes, and CoQ10 and VC treatment inhibited this effect. CoQ10 and VC treatment inhibits Dox-induced gastric mucosal injury by inhibiting the activation of the IkKB/IκBα/NF-κB/p65/TNF-α pathway, promoting anti-inflammatory effects of gastric tissue and regulating the composition of the intestinal flora.

The effect of shoulder subluxation on the electrophysiological characteristics of the peripheral nerves in the upper limbs of stroke survivors: A self-controlled study / 中华物理医学与康复杂志

Objective:To explore the effect of shoulder subluxation on the peripheral nerves in the hemiplegic upper limbs of stroke survivors.Methods:Twenty stroke survivors with shoulder subluxation were enrolled. Conduction in their suprascapular, axillary, musculocutaneous, radial, median and ulnar nerves was monitored and needle electromyography was used to monitor activity in the supraspinatus, deltoid, biceps brachii, extensor digitorum, abductor pollicis brevis and abductor digiti minimi muscles of their affected upper limbs at rest. Upper limb and hand function were assessed using the Brunnstrom scale. The rate of change in the amplitude of the compound muscle action potentials (CMAPs) was correlated with the patient′s disease duration, age, and upper limb and hand Brunnstrom stages.Results:Compared with the healthy side, a significant decrease was observed in the CMAP amplitudes of the suprascapular, axillary, musculocutaneous, radial, median and ulnar nerves of the hemiplegic arm, and the latency of the suprascapular and axillary nerves was significantly prolonged. There was no inter-arm difference in the conduction velocity of the musculocutaneous, radial, median and ulnar nerves. The rates of change in the CMAP amplitudes of the suprascapular, axillary and musculocutaneous nerves were significantly higher than those of the radial, median and ulnar nerves. The sensory nerve action potential (SNAP) amplitudes of the median, ulnar and radial nerves on the hemiplegic side were significantly lower than on the healthy side, but there was no significant difference in the sensory conduction velocity between the two sides. On the hemiplegic side, the median nerve had the highest rate of change rate in the SNAP amplitude, followed by the radial and ulnar nerves, but there was no significant difference among them. Nor was there any significant difference in the rate of change in sensory nerve conduction velocity. The muscles of the affected upper limbs had higher potentials in the proximal than that in the distal nerves after shoulder subluxation. The rate of change in the CMAPs was not significantly correlated with a patient′s disease duration, age, or upper limb or hand Brunnstrom stage on the hemiplegic side.Conclusions:Shoulder subluxation after a stroke can cause greater damage to the peripheral nerves in the shoulder and upper arm than to those in the forearm and hand, possibly affecting the recovery of upper limb function.

Application of Combined Detection of Serum Homocysteine and High Sensitive Cardiac Troponin T in Diagnosis of Coronary Artery Disease / 中国医科大学学报

Objective To evaluate the diagnostic value of homocysteine(Hcy)and high?sensitivity troponin T(hs?TNT)of serum in coronary heart disease(CHD). Methods A total of 310 cases of CHD(CHD group )and 285 cases of healthy individuals(healthy control group)were re?cruited in our hospital from August 2014 to July 2015. The serum levels of Hcy and hs?TNT in all subjects were measured using methods of enzy?matic cycling and electrochemical luminescence. Results Levels of Hcy and hs?TNT of serum sample in CHD group were higher than healthy control group(P<0.05). The positive rate of Hcy combined with hs?TNT was 88.4%,which was significantly higher than the positive rate of indi?vidual detection(P<0.05). Hcy and hs?TNT of patients with myocardial infarction were different from those of patients without myocardial infarc?tion . The differences were statistically significant(P<0.05). Conclusion The combined detection of Hcy and hs?TNT can improve the detec?tion rate of CHD,which has a certain application value in the diagnosis of CHD.

Apoptosis effect of Siraitia grosvenorii extracts on lung cancer cells A549 and its mechanisms / 中国药理学通报

Aim To study the apoptosis effect of Sir-aitia grosvenorii extract on human lung cancer cells A549 and its mechanisms.Methods MTT assay was applied to determine A549 cell proliferation.Hoechst 33258 staining was applied to investigate morphological changes in A549 cells.To find out the cause of cell growth inhibition,several experiments on cell cycle distribution and apoptosis were performed by flow cy-tometry analysis.The expression of p21 and Bcl-2 was determined by Western blot.Results Flow cytometry analysis showed that treatment with mogrol arrested A549 cells in the G0 /G1 phase and induced apoptosis. After treatment with Siraitia grosvenorii extract,West-ern blot experiment showed cell cycle regulator p21 was up-regulaed,while the apoptosis inhibitor Bcl-2 was down-regulated.Conclusion Treatment with Siraitia grosvenorii extract arrests the A549 cells at G0 /G1 phase and induces apoptosis that may contribute to the anti-proliferation activity of mogrol through the regula-tion of p21 and Bcl-2 expression.

Determination of breath acetone in type 2 diabetic patients using a ringdown breath-acetone analyzer / 国际生物医学工程杂志

Objective To conduct breath test with a relatively large number of subjects for new data regarding breath acetone in diabetes using a high accuracy and high data throughput breath acetone analyzer based on the cavity ringdown spectroscopy (CRDS) technique.Methods The CRDS breath analyzer was validated by standard acetone gas samples with various concentrations and golden standard gas chromatography-mass spectrometry (GC-MS).A total of 917 breath samples from 260 type 2 diabetic (T2D) patients and 30 healthy individuals were collected under each of 4 different conditions: fasting, 2 h post-breakfast, 2 h post-lunch, and 2 h post-dinner, and the samples were tested by the breath analyzer.Results The linear fitting curve of standard acetone samples with various concentration had good linearity (R=1, P＜0.05).The linear fitting of the results of GC-MS and CRDS was 0.98, suggesting that the obtained acetone concentrations using both methods were consistent.For the 260 T2D subjects, the exhaled breath acetone concentrations ranged from 0.0 to 10.6×10-6, while for the 30 healthy subjects, the breath acetone concentration ranged from 0.1 × 10-6 to 2.0× 10-6.The mean breath acetone concentration of the 260 T2D subjects was (1.5±1.l)× 10-6, which was 1.4 times of(1.1±0.5)×10-6 for the 30 healthy subjects.The mean breath acetone concentrations under the 4 conditions for the 260 T2D subjects ((1.6±1.2)×10-6, (1.4±1.0)×10-6~, (1.4±0.9)×10-6, and (1.4±1.2)× 10-6) were higher than that of the 30 healthy subjects ((1.3±0.3)×10-6, (1.0±0.6)×10-6, (1.0±0.6)×10-6, and (1.1±0.4)×10-6), respectively.No correlation was found between the breath acetone concentration and the blood glucose level of the T2D subjects and the healthy individuals.Conclusions The GC-MS validation confirms that the CRDS breath acetone analyzer is a reliable instrument for fast response and on-line breath acetone measurement.An elevated mean breath acetone concentration exists in T2D subjects.The relationship between breath acetone level and physiological parameters needs to be further investigated.

Propensity score matching-based therapeutic effect evaluation in patients with hepatocellular carcinoma / 南方医科大学学报

<p><b>OBJECTIVE</b>To evaluate the therapeutic effects of transcatheter arterial chemoembolization (TACE) with or without radiofrequency ablation (RFA) in hepatocellular carcinoma (HCC) patients based on propensity score matching.</p><p><b>METHODS</b>A logistic regression model was established with the treatment assignment as the dependent variable and the covariates as the independent variables. For each HCC patient, the propensity score was calculated from the model for caliper matching, and a survival analysis of the matched data were carried out.</p><p><b>RESULTS</b>The covariates between the groups were balanced after caliper matching based on the propensity scores. Before matching, the one-, two-, and three-year survival rates of TACE and TACE+RFA were 52.07% and 59.08%, 32.24% and 36.43%, and 316.54% and 19.39%, with the median survival time of 1.20 and 1.40 years, respectively, showing no significant differences in the overall survival rate between the two groups. After matching, the 1-year, 2-year, and 3-year survival rates of TACE and TACE+RFA groups were 54.39% and 62.28%, 23.15% and 40.08%, and 10.20% and 18.52%, with the median survival time of 1.10 years and 1.50 years, respectively, showing significant differences in the overall survival between the two groups. The survival rate in TACE+RFA group was higher than that of TACE only group.</p><p><b>CONCLUSION</b>Propensity score matching can effectively reduce the confounding bias of non-randomized clinical observational data for a more accurate evaluation of the therapeutic effect in HCC patients.</p>

Soil microbial community composition and diversity in Panax quinquefolius rhizosphere / 中国中药杂志

The objective of this work was to analyze the soil microbial community diversity and structure in Panax quinquefolius rhizosphere and elucidated the rules of the ecology shift. Two community-based microbiological measurements, community level physiological profiling (CLPP) using Biolog sole C source utilization tests and phospholipid ester-linked fatty acid (PLFA) profiles, were used to evaluate soil microbial community function and composition of different Panax quinquefolius cropping soils. The properties, pH, N, P, K and organic matter were analyzed also. There were many differences in soil properties such as lower pH (5.82) in Jilin soil but higher pH (8.27) in Beijing soil and there were significant higher content of organic matter, available N, P, K in Jilin soil than those in Beijing soil. The analysis of soil microbial ecology showed a similar result in AWCD, Biolog and PLFA pattern. According to the PC1 score in principal analysis of Biolog and PLFA, the soils in 2, 3 and 4 years cultivated P. quinquefolius rhizophere were distinguished from the control and 1 year soils. The result indicated that the metabolism function reduced and the structure shifted in rhizophere soil microbial community after P. quinquefolius cropping. These may be the primary reason of the disease occur severely in P. quinquefolius field.

Discussion on the Ultrasonic Extraction in the Determination of Chanfukang Granules / 中国药房

OBJECTIVE: To investigate the effect of ultrasonic extraction in the determination of Chanfukang gran- ules. METHODS: Different types of ultrasonic extractor were used to determine the same sample repeatedly .RESULTS & CONCLUSION: The extraction effects were different in using ultrasonic extractors with different power levels and ultrasonic frequency.

Study on BET in sodium bicarbonate injection with TAL / 中国药学杂志

OBJECTIVE:To determine whether bacterial endotoxins test(BET) can replace the pyrogen test for the sodium bicarbonate injection.METHODS:The comparative experiment of tachypleus amebocyte lysate(TAL) and rabbits were studied to determine the sensitivity.RESULTS:The sensitivity of TAL test was 0.125 EU.ml－1, 12 times higher than that of using rabbits.CONCLUSIONS:BET may replace pyrogen test.