Objective:To explore the clinical application of time of flight-magnetic resonance angiography (TOF-MRA), silent magnetic resonance angiography (SilenZ-MRA) and high-resolution vessel wall imaging (HR-VWI) in non-invasive evaluation of intracranial aneurysm after embolization.Methods:From February 2021 to February 2022, 39 patients, including 8 males and 31 females, who were 29-86 (54.50±11.80) years old and had received intracranial aneurysm embolization were collected in the Second Affiliated Hospital of Nanchang University. Kruskal-Wallis test was used to compare the image quality score and the evaluation results of lumen stenosis rate in the stent segments by TOF-MRA, SilenZ-MRA and HR-VWI. The diagnostic value of TOF-MRA, SilenZ-MRA and HR-VWI was analyzed by receiver operating characteristic (ROC) curve with DSA as the reference standard.Results:The image quality scores of TOF-MRA, SilenZ-MRA and HR-VWI were 2(1, 3), 4(3, 4) and 4(4, 4), respectively, with statistically significant difference ( H=80.78, P<0.05). The pairwise comparison results were as follows: TOF-MRA vs SilenZ-MRA, P<0.017; TOF-MRA vs HR-VWI, P<0.017; SilenZ-MRA vs HR-VWI, P>0.017. The lumen stenosis rates of stent segments measured by TOF-MRA, SilenZ-MRA, HR-VWI and DSA were 45.00% (29.60%, 61.05%), 17.60% (10.80%, 26.80%), 13.35% (8.90%, 15.95%) and 7.95% (4.80%, 11.25%), respectively, with statistically significant difference ( H=67.96, P<0.05). The results of comparison between TOF-MRA, SilenZ-MRA, HR-VWI and DSA were respectively as follows: TOF-MRA vs DSA, P<0.017; SilenZ-MRA vs DSA, P<0.017; HR-VWI vs DSA, P>0.017. DSA review showed that 12 (27.91%,12/43) aneurysms were not completely embolized, and 31 (72.09%, 31/43) aneurysms were completely embolized. The area under the curve of TOF-MRA, SilenZ-MRA and HR-VWI for evaluating the postoperative complete embolization of aneurysm was 0.75, 1.00 and 0.94, respectively, with statistically significant differences between TOF-MRA and HR-VWI ( Z=2.53, P<0.05) as well as between TOF-MRA and SilenZ-MRA ( Z=3.32, P<0.05). Conclusions:HR-VWI can clearly display the stent-segment lumen of the parent artery, and evaluate the stent-segment arterial wall and whether the stent-segment lumen is unobstructed or not. SilenZ-MRA is significantly superior to TOF-MRA in the evaluation of postoperative embolization status of aneurysms, and slightly superior to HR-VWI in tumor neck display. Combined application of HR-VWI and SilenZ-MRA has certain clinical significance for non-invasive evaluation of intracranial aneurysm after embolization.

As a representative chemotherapeutic drug, docetaxel (DTX) has been used for breast cancer treatment for decades. However, the poor solubility of DTX limits its efficacy, and the DTX based therapy increases the metastasis risk due to the upregulation of C-X-C chemokine receptor type 4 (CXCR4) expression during the treatment. Herein, we conjugated CXCR4 antagonist peptide (CTCE) with DTX (termed CTCE-DTX) as an anti-metastasis agent to treat breast cancer. CTCE-DTX could self-assemble to nanoparticles, targeting CXCR4-upregulated metastatic tumor cells and enhancing the DTX efficacy. Thus, the CTCE-DTX NPs achieved promising efficacy on inhibiting both bone-specific metastasis and lung metastasis of triple-negative breast cancer. Our work provided a rational strategy on designing peptide-drug conjugates with synergistic anti-tumor efficacy.

Objective This study aimed to investigate the MRI features of forearm muscles from myotonic dystrophy type 1(DM1)and to evaluate the correlation between clinical factors and muscle MRI.Methods We retrospectively reviewed the medical records of genetic-confirmed DM1 patients including the clinical manifestations,the electromyography and the muscle pathology results.MRI scan was used to examine forearm muscles.Analysis of T1weighed images and short inversion time inversion recovery images were used to evaluate muscle fatty infiltration and muscle edema,respectively.The correlation between the fatty infiltration and age,disease duration and muscle strength were investigated.Results Twenty-three DM1 patients from different family were enrolled.The onset age was 17～60 year-old,mean age was(34.3±12.2)year-old,and the mean course of disease was 5(3,9)years.Their main symptoms were hand weakness and stiffness,accompanying with alopecia and excessive daytime sleepiness.The median fatty infiltration scores were recorded as follows:flexor digitorum profundus(FDP)4.0(3.0,4.0),flexor pollicis longus(FPL)4.0(3.0,4.0),extensor pollicis brevis 2.0(1.0,2.5),abductor pollicis longus 2.0(0.5,2.5),extensor pollicis longus 2.0(1.0,2.0),flexor digitorum superficialis 2.0(0.5,2.5),supinator(S)2.0(1.0,2.0).Other muscles scores were less than 1 of which the pronator teres(PT)was 1.0(0.0,1.0).Atrophy of FDP was detected in nine,atrophy of FPL in six and hypertrophy of PT in 11 patients.The muscle edema was evident in FDP,FPL,and the flexor digitorum superficialis,while brachioradialis and pronator teres were normal.There was no significant correlation between mean muscle fat infiltration score and age or course of disease.The mean muscle fat infiltration was significantly correlated with muscle strength score(r =-0.590,P<0.01).The mean fatty infiltration scores of FDP and FPL were not correlated with age nor course of disease,but correlated with grip strength(r =-0.754,P<0.01 and r =-0.699,P<0.01).Conclusion The forearm MRI in DM1 patients exhibit a relatively specific distribution of selective muscle involvement and can be used to assess muscle weakness.

Objective:To explore the influence of peer support education on psychosocial adaptation and psychological distress of breast cancer patients.Methods:Using non-simultaneous experimental research methods, a total of 51 breast cancer patients admitted to the department of breast surgery, the First Affiliated Hospital of Nanchang University from June to August 2019 were selected as the control group, and 53 breast cancer patients admitted from September to December 2019 were selected as the intervention group. The control group received routine education, while the intervention group received peer education on the basis of routine education. After 4 months of intervention, the differences of psychosocial adaptation and psychological pain were compared between the two groups.Results:After 4 months of intervention, 49 cases in the control group and 51 cases in the intervention group completed the study. In the psychosocial adaptation scale, the scores of anxiety/depression, self-esteem, self-acceptance, self-control and self-efficacy belonging in the intervention group were (29.43±2.83), (32.08±3.07), (28.10±2.62), (28.08±3.27), (31.53±3.73) points, which were higher than (27.67±3.96), (30.14±2.54), (25.94±2.91), (25.16±2.95), (30.02±2.70) points in the control group after the intervention, and difference statistically significant ( t values were -4.680 to -2.312, P<0.05). The score of psychological pain in the intervention group (2.37±1.15) points was significantly lower than that in the control group (3.57±0.98) points, and difference was statistically significant ( t value was 4.867, P<0.05). The number of patients with mild and moderate psychological pain in the intervention group was 51 cases accounting for 100% (51/51), which was higher than 48 cases accounting for 98% (48/49) in the control group, and difference was statistically significant ( χ2 value was 12.272, P<0.05). Conclusions:Peer education can effectively improve the psychosocial adaptability of breast cancer patients and reduce their pain level.

Objectives:To summarize the clinical and genetic characteristics of the patients with isolated methylmalonic acidemia and investigate the strategies for the diagnosis, treatment and prevention.Methods:Three hundred and fourteen patients (180 males, 134 females) with isolated methylmalonic acidemia were ascertained from 26 provinces or cities across the mainland of China during January 1998 to March 2020. Genetic analysis was performed by Sanger sequencing, gene panel sequencing, whole exome sequencing, multiplex ligation-dependent probe amplification or quantitative PCR. According to the age of onset, the patients were divided to early-onset group (≤12 months of age) and the late-onset group (>12 months of age). They were treated by cobalamin, L-carnitine and (or) special diet and symptomatic treatment. Statistical analysis was done using Chi-square test.Results:Fifty-eight of 314 (18.5%) patients were detected by Newborn screening using liquid chromatography tandem mass spectrometry. Five cases (1.6%) had a postmortem diagnosis. Two hundred and fifty-one patients (79.9%) were clinically diagnosed with an age of onset ranged from 3 hours after birth to 18 years. One hundred and fifty-nine patients (71.0%) belonged to early-onset groups, 65 patients (29.0%) belonged to the late-onset group. The most common symptoms were metabolic crises, psychomotor retardation, epilepsy, anemia and multiple organ damage. Metabolic acidosis and anemia were more common in early-onset patients than that in late-onset patients (20.8%(33/159) vs. 9.2% (6/65), 34.6% (55/159) vs. 16.9% (11/165), χ 2=4.261, 6.930, P=0.039, 0.008). Genetic tests were performed for 236 patients (75.2%), 96.2%(227/236) had molecular confirmation. One hundred and twenty-seven variants were identified in seven genes (MMUT, MMAA, MMAB, MMADHC, SUCLG1, SUCLA2, and MCEE), of which 49 were novel. The mut type, caused by the deficiency of methylmalonyl-CoA mutase, was the most common ( n=211, 93%) cause of this condition. c.729_730insTT, c.1106G>A and c.914T>C were the three most frequent mutations in MMUT gene. The frequency of c.914T>C in early-onset patients was significantly higher than that in late-onset patients (8.3% (18/216) vs. 1.6% (1/64), χ 2=3.859, P=0.037). Metabolic crisis was more frequent in mut type than the other types (72.6% (114/157) vs. 3/13, χ 2=13.729, P=0.001),developmental delay and hypotonia were less frequent in mut type (38.2% (60/157) vs. 9/13, 25.5% (40/157) vs. 8/13, χ 2=4.789, 7.705, P=0.030, 0.006). Of the 58 patients identified by newborn screening, 44 patients (75.9%) who were treated from asymptomatic phase developed normally whereas 14 patients (24.1%) who received treatment after developing symptoms exhibited varying degrees of psychomotor retardation. Conclusions:The characteristics of phenotypes and genotypes among Chinese patients with isolated methylmalonic acidemia were analyzed. Expanded the mutation spectrum of the associated genes. Because of the complex clinical manifestations and severe early onset of isolated methylmalonic acidemia, Newborn screening is crucial for early diagnosis and improvement of prognosis. MMUT gene is recommended for carrier screening as an effort to move the test earlier as a part of the primary prevention of birth defects.

Objective A self-made tiltable treatment couch was adopted for CT simulation positioning and radiotherapy to evaluate the feasibility and effectiveness to minimize the setup errors. Methods Twenty-two patients with thoracic and abdominal tumors receiving radiotherapy in Department of Radiation Oncology,Peking Union Medical College between March and September 2016 were recruited in this study. All patients were randomly divided into the experimental(n=11)and control groups(n=11).In the study group,the tiltable treatment couch was adopted to switch the patients from the standing position to the supine position,and conventional supine position was utilized in the control group. All patients received CT positioning under spontaneous breathing. Image registration was performed according to the standard recommendations of IGRT group. The image registration data for the translational and rotation errors of CBCT were recorded and analyzed. The setup errors were calculated by four-parameter model between two groups. Results In the experimental group,the translational error of the x direction was(-0.012±0.128)cm with a variation range of(0.29-0.70 cm),(0.272±0.123)cm for the y direction(0.23-0.70 cm)and(0.089± 0.105)cm for the z direction(0.14-0.53 cm),respectively. In the control group,the translational error of the x direction was(0.006±0.198)cm(0.27-0.75 cm),(-0.108±0.396)cm for the y direction(0.56-2.08 cm)and(- 0.096± 0.176)cm for the z direction(0.34-0.89 cm), respectively. Conclusions Application of the self-made tiltable treatment couch can enhance the setup reproducibility and reduce the setup errors,especially in the y direction during radiotherapy for the thoracic and abdominal tumors.

A 58-year-old man who presented with progressive proximal weakness and elevated serum creatine kinase levels was found to have typeⅢa glycogen storage disease. Except for a history of later motor milestone in childhood, he was healthy and lived a normal life. There was no hypoglycemia, hepatomegaly or growth retardation. Muscle weakness was not apparent until the fourth decade. Scoliosis and mild hypertrophy of cardiac ventricular septum were detected. Muscle biopsy was performed which revealed amount of glycogen depositing. A novel homogenous splicing mutation was found in AGL gene.

Objective: To analyz the current situation of the diagnosis, treatment and prevention of methylmalonic acidemia, the phenotypes, biochemical features and genotypes of the patients in the mainland of China, were investigated. Methods: Tottally 1 003 patients of methylmalonic acidemia from 26 provinces and municipalities of the mainland of China were enrolled. The clinical data, biochemical features and gene mutations were studied. Blood aminoacids and acylcarnitines, urine organic acids, and plasma total homocysteine were determined for the biochemical diagnosis. Gene analyses were performed for the genetic study of 661 patients. The patients were treated with individual intervention and long-term follow up. Prenatal diagnoses were carried out for 165 fetuses of the families. Results: Among 1 003 patients (580 boys and 423 girls), 296 cases (29.5%) had isolated methylmalonic acidemia; 707 cases (70.5%) had combined homocysteinemia; 59 patients (5.9%) were detected by newborn screening; 944 patients (94.1%) had the onset at the ages from several minutes after birth to 25 years and diagnosed at 3 days to 25 years of age. The main clinical presentations were psychomotor retardation and metabolic crisis. Multi-organ damage, including hematological abnormalities, pulmonary hypertension, kidney damage, were found. MMACHC, MUT, MMAA, MMAB, HCFC1, SUCLG1, SUCLA2 mutations were found in 631 patients (96.6%) out of 661 patients who accepted gene analysis. MMACHC mutations were detected in 460 patients (94.7%) out of 486 cases of methylmalonic acidemia combined with homocysteinemia. MUT mutations were found in 158 (90.3%) out of 169 cases of isolated methylmalonic acidemia. The development of 59 patients detected by newborn screening were normal; 918 cases (97.2%) were diagnosed after onset accepted the treatment. Forty-five of them completely recovered with normal development. Twenty-six patients (2.7%) died; 873 (92.5%) patients had mild to severe psychomotor retardation. Methylmalonic acidemia were found in 35 out of 165 fetuses by metabolites assay of amniotic fluid and amniocytes gene analysis. Conclusion Combined methylmalonic acidemia and homocysteinemia is the common type of methylmalonic acidemia in the mainland of China. CblC defect due to MMACHC mutations is the most common type of methylmalonic acidemia combined with homocysteinemia. MUT gene mutations are frequent in the patients with isolated methylmalonic acidemia. Newborn screening is key for the early diagnosis and the better outcome. Combined diagnosis of biochemical assays and gene analysis are reliable for the prenatal diagnosis of methylmalonic acidemia.

Objective To prepare multi-modality melanin-based lipid nanobubbles (MNBs) contrast agents,and to investigate their manifestations of ultrasound (US),photoacoustic (PA) and MRI in vitro.Methods MNBs and lipid nanobubbles (NBs) were prepared with the method of CHCl3-injection,freeze-drying and C3F8-inflation.The characteristics (shape,grain diameter,loading capacity of melanin and stability) of MNBs were obseved.US,PA and MRI were detected in vitro and the images were quantitatively analyzed.Results MNBs presented with homogenized size distribution,and transmission electron microscope (TEM) images demonstrated that the melanin particles were successfully entrapped into nanobubbles.Meanwhile,the loading capacity of melanin was 90.53 μg/mg.US signal increased in vitro with the rise of MNBs and NBs concentration.The ultrasonic manifestations of MNBs and NBs were the same,and the relative signal enhancement had no significant difference (P＞0.05).With the increased concentration of MNBs,the PA and MRI signals were stronger,but NBs showed no evident enhancement.Conclusion Multi-modality MNBs contrast agents are prepared successfully,which can enhance US,PA and MR imaging.

Objective To analyze the normal reference values of left ventricular longitudinal peak systolic strain (LS) and strain rate (LSr) by two-dimensional speckle tracking imaging (2D-STI) in healthy children at different ages.Methods Clinical ultrasound data of 330 healthy children who taking physical examination in our hospital from September 2015 to November 2016 were collected and retrospectively.They were divided into 7 groups according to their ages,that is,neonate group (0 to 28 days old),infant group (28 days to 1 year old),toddle group (1 to 3 years old),pre-school group (3 to 6 years old),school age group (6 to 9 years old),pre-adolescence group (9 to 13 years old) and adolescence group (13 to 18 years old).2D-STI was performed in the 3 apical projections of left ventricle (LV).The regional peak systolic longitudinal strain and strain rate of LV were measured.Results ① Significant differences were found in the LS and LSr values from 6 segments of the same wall (P ＜ 0.05),and the LS and LSr values were gradually increased from basal segment to apical segment.②There were no significant differences in the LS,LSr and global LS (GLS) values of 18 segments between sexes (P ＞ 0.05).③ Except the basal segments of posterior wall,inferior wall and posterior septum,LS value was gradually elevated with the increase of age (LS ＜LSinfant ＜ LStoddler,pre-shool and school age ＜ LSpre-adolescence and adolescence),So was GLS value.④LS in 18 segments had a positive correlation with age,and the value of apical segment in lateral wall was most remarkably correlated (r =0.551,P ＜0.01);Regional LS had a negative correlation with heart rate,and that of middle segment in lateral wall was the most apparent (r =-0.625,P ＜ 0.01);GLS was positively influenced by age (r =0.665,P ＜ 0.01) and negatively affected by heart rate (r =-0.625,P ＜ 0.01).⑤The heterogeneities were found in the correlations of regional LSr with age and heart rate in segments and in the LSr among different age groups.Conclusion Normal reference values of LV peak LS and LSr are established for healthy children at different ages,and they possess their own characteristics.