Objective:To explore the impact of artificial intelligence compressed sensing technology (CS-AI) on image quality in three-dimensional proton density weighted imaging (3D PDWI) of the unilateral hip joint.Methods:High-resolution unilateral hip imaging was conducted on 67 healthy volunteers at West China Hospital of Sichuan University from January to July 2023. Imaging was performed by using CS-AI 3D PDWI sequence with acceleration factors (AF) of 4, 6, 8, and 10, respectively. According to the AF, all subjects were divided into 4 groups: CS-AI 4, CS-AI 6, CS-AI 8 and CS-AI 10, with CS-AI 4 serving as a reference. Recording the scan time, the signal and noise intensity of the femoral head, muscle, and subcutaneous fat were measured by a senior radiologist and the signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were then calculated. Additionally, two observers provided ratings for overall image quality and artifacts in the 4 groups, and statistical analysis was performed using the Friedman rank-sum test.Results:The acquisition times for CS-AI 4, CS-AI 6, CS-AI 8, and CS-AI 10 were 5 min 49 s, 3 min 54 s, 2 min 56 s and 2 min 22 s, respectively. Compared to CS-AI 4, the scanning time for CS-AI 6, CS-AI 8, CS-AI 10 were reduced by 32.95%, 50.14%, 59.31%, respectively. The objective evaluation revealed that the SNR and CNR of the femoral head and muscle in groups CS-AI 6, CS-AI 8, and CS-AI 10 were slightly lower than those in group CS-AI 4 ( P<0.05), and the differences were statistically significant. However, no statistically significant differences were found among the 3 groups ( P>0.05). The subjective evaluation indicated that the overall image quality scores of group CS-AI 8 [3 (3,4)] did not significantly differ from those of group CS-AI 4 and CS-AI 6( P>0.05); The mean scores of group CS-AI 4 and CS-AI 6 were 4 (4, 4); Scores of group CS-AI 10 was 3(3, 3), which statistically significant differ from those of the other groups ( P<0.05). The artifacts rating for groups CS-AI 4, CS-AI 6, CS-AI 8 and CS-AI 10 were 4 (4, 4), 4 (4, 4), 3 (3, 4), and 2 (2, 3) respectively. When AF was set to 10, the images exhibited the most severe artifacts ( P<0.05). For other AF values, artifact ratings did not differ significantly ( P>0.05). Conclusion:The CS-AI 3D-PDWI sequence with acceleration factor 8 can acquire high-resolution images of the unilateral hip joint that meet clinical diagnostic requirements while reducing scanning time.

Humans ; East Asian People ; Genetic Profile ; Mutation ; Osteochondrodysplasias/genetics*

Objective:To evaluate the clinical value of prenatal molecular diagnostic technology in preventing hereditary diseases through analysis of prenatal diagnostic characteristics in 22 monogenic skeletal disorders pedigrees.Methods:This study retrospectively analyzed prenatal molecular diagnostic results of 22 pedigrees with monogenic skeletal disorders who were admitted to Department of Osteoporosis and Bone Diseases in our hospital from January 2014 to July 2021.Results:Among 22 pedigrees, there were 10 pedigrees with X-linked hypophosphatemic rickets due to PHEX gene mutations, in which 8 fetuses were found to carry pathogenic variants; 6 pedigrees with osteopetrosis, including 3 cases of CLCN7 gene mutation, 2 TCIRG1 gene mutation, and 1 CTSK gene mutation, were detected to have 2 affected fetuses and 1 carrier. There were 4 cases of osteogenesis imperfecta, including 2 cases of COL1A1 gene mutation, 1 case of COL1A2 gene mutation, and 1 case of SERPINF1 gene mutation, in which 1 affected fetus and 1 carrier were found; only one case of osteoarthritis with mild chondrodysplasia caused by COL2A1 gene mutation was found to harbor pathogenic variant in fetus; 1 case of hypophosphatasia due to ALPL gene mutation was not detected to carry pathogenic variant in fetus. By the time of follow-up, all 12 affected fetuses were terminated, and the remaining 10 fetuses except for one case still in pregnancy were born in good condition.Conclusion:Prenatal molecular diagnosis may confirm whether the fetus carries pathogenic variants at the first and second trimesters. For monogenic skeletal disorders that comply with Mendel′s law of separation, prenatal diagnosis can be determined by calculating the probability of recurrence of offspring. In addition, for families with de novo mutations in the offspring, it is necessary to pay attention to whether there are mosaic mutations in the parents.

In the present study, the clinical features of a patient with autosomal recessive hypophosphatemic rickets 1 caused by dentin matrix protein 1(DMP1)gene mutation and her family members were investigated. DMP1 gene from peripheral blood was sequenced by Sanger sequencing, and the known mutation was verified among her family members and 250 healthy populations. The proband was a 42-year-old female with bone deformity of both lower limbs, bone pain, and short stature. The results of X-rays and laboratory examination were consistent with the hypophosphatemic rickets reported before. A homozygous mutation(c.2T> C)in DMP1 was identified by Sanger sequencing in the proband, her son and daughter were heterozygous for c. 2T> C.

Small interfering RNA (siRNA) has been used to treat various skin diseases. However, siRNA is limited in application due to its electronegativity, strong polarity, easy degradation by nuclease and difficulty in breaking through the skin barrier. Therefore, safe and efficient siRNA delivery vector is the premise of effective treatment of skin diseases by siRNA. In recent years, with the deepening of research on siRNA, great progress has been made in the development of delivery systems based on lipids, polymers, peptides and nanoparticles, some new transdermal delivery vectors of siRNA have emerged, such as liposomes, dendrimers, cell penetrating peptides, and spherical nucleic acid nanoparticles. This review will focus on the recent advance in siRNA transdermal delivery vectors.
Administration, Cutaneous ; Genetic Vectors ; administration & dosage ; Humans ; RNA, Small Interfering ; administration & dosage ; Skin Diseases ; therapy

OBJECTIVES: To explore the method and significance of prenatal counseling in cardiac surgery for fetal congenital heart disease (CHD). METHODS: The prenatal counseling should be provided by experienced CHD experts. The preliminary clinical diagnosis based on relevant data was carried out, the prognosis risk for fetal CHD was graded, and the pathophysiological process and potential hazards of the disease were analyzed. The current condition of CHD in the treatment plan, the long-term quality of life, and the special requirements of parturition in place, period and mode were described. A reliable follow-up system of the fetuses was established, the diagnosis after delivery was verified, and surgical treatment was carried out timely. RESULTS: From January 2016 to December 2018, 225 parents with fetal CHD received prenatal counseling, including 60 fetuses (26.7%) with simple CHD and 165 (73.3%) with complex CHD, among which 59 cases (98.3%) and 93 cases (56.4%) decided to continue the pregnancy, respectively. During the follow-up, 118 fetuses were born, of which 66 infants received surgical treatment within 6 months after birth, 63 infants (95.5%) recovered and 3 infants (4.5%) died. The rest 52 infants continued to be followed up. CONCLUSIONS The prenatal counseling for fetal CHD can provide the parents a comprehensive medical information about CHD, which is beneficial to making appropriate pregnancy decisions, and can turn the fetuses from unreasonable birth and passive treatment to selective birth and active treatment in CHD.
Cardiac Surgical Procedures ; Counseling ; Female ; Fetus ; Heart Defects, Congenital ; surgery ; Humans ; Pregnancy ; Prenatal Diagnosis ; Quality of Life ; Ultrasonography, Prenatal

Objective To explore the clinical application value of second-generation dual-source CT combined with intelligent modulation and iterative reconstruction in emergency aortic dissection imaging.Methods A total of 40 emergency patients with clinical suspected aortic dissection were included in this study.Conventional scanning was performed in the control group,and large-pitch intelligent modulation and iterative reconstruction were performed in the test group.The mean CT value,mean noise,signal noise ratio(SNR),contrast noise ratio(CNR),effective dose,image quality and aortic root image quality were evaluated and analyzed.Results Totally 40 patients successfully completed CT aortic dissection imaging.There was no difference in image quality between the two groups (P＞ 0.05).The quality of aortic root images in the test group was better than that in the control group,and the difference was statistically significant(x2=22.556,P＜0.05).The mean CT value and mean noise of aorta in the control group were slightly higher than those in the test group.However,SNR and CNR in the test group were higher than those in the control group,and the difference was statistically significant (t =-21.042,-15.924,8.530,11.495,P＜0.05).The effective dose of the control group [(10.59±3.89)mSv] was significantly higher than that [(6.39±0.81) mSv] of the test group,the difference was statistically significant (t =-12.327,P＜0.05).Conclusions The combined intelligent modulation technique and iterative reconstruction technique with dual-source CT large pitch scanning can meet the requirements of image quality and reduce the effective dose,and can be used as a conventional imaging method for emergency CT of aortic dissection.

Objective To analyze the clinical features and the mutation of LEMD3 gene in four osteopoikilosis patients.Methods Clinical data of 4 patients were collected, peripheral blood samples were obtained for DNA extract, and LEMD3 gene mutation was analyzed by direct DNA sequencing.Results 4 patients with osteopoikilosis included a male aged 44, a female aged 42, a 26-year-old male, a 21-year-old female.All these patients were from families of non-consanguineous marriage.The main complaint of these patients was pain on arthrosis.Abnormal X-ray radiography was found in medical examination, while markers of bone metabolism were normal.The results of X-ray examination showed that numerous, discrete round or ovoid calcification were scattered throughout the wrist, pelvis and scapula.A de novo mutation c.595delG(NM_014319.4) localized in exon1 of the LEMD3 gene resulting in p.Ala199ProfsX46 of Case 3, while the mutation is not found in his parents and the remaining 3 patients.Conclusions A de novol LEMD3 mutation led to osteopoikilosis was found, and the pathogenesis of molecular mechanism in Chinese remained further exploration.

Objective To explore the correlation between brainstem auditory evoked potential (BAEP) combined with mesencephalic morphology and the prognosis of coma patients with severe craniocerebral injury.Methods Forty-seven coma patients with severe craniocerebral injury were examined with BAEP and moaitored dynamically in early period of coma,and all these patients got head CT scans and the ratio of anteroposterior diameter and transverse diameter of mesencephalon were measured at the same time.Results There was a significantly negative relationship between the first BAEP classification and GOS score at the end of the follow-up (r =-0.755,P =0.000 ).Among all of the patients,there were 27 patients with the ratio of anteroposterior diameter and tansverse diameter of mesencephalon from 0.9 to 1.1,19 patients (70.4％,19/27) with good prognosis;20 patients with the ratio ＞1.1 or ＜ 0.9,6 patients (30.0％,6/20 ) with good prognosis.The rate of good prognosis between the two had significant difference ( x2 =7.521,P =0.006).The sensitivity and specificity were 73.7％(14/19),82.6％ (19/23) at the first BAEP combined with mesencephalic morphology,88.2％ (15/17),100.0％ (21/21) at the second BAEP combined with mesencephalic morphology.Conclusion BAEP combined with mesencephalic morphology can evaluate effectively the prognosis of coma patients with severe craniocerebral injury.

Objective To locally inject human umbilical cord blood (HUCB) mesenchymal stem cells (MSCs) to rat traumatic brain injury (TBI) model to investigate expression of neural markers and neurological functional improvement. Methods HUCB-MSCs were labeled by bis-benzimide for over 24 hours and stereotactically transplanted into the brain of the rats. All rats were divided into four groups, ie, sham injury group, TBI group, control (TBI + PBS) group and treatment (TBI + MSCs) group, Im-munohistochemical methods and immanofluorescence staining were used to observe the survival, migration and differentiation of the transplanted cells. The neurological functional improvement was evaluated by u-sing the neurological severity score (NSS). Results There existed a large number of MSCs survived in local region of the brain that received transplants, when some MSCs differentiated into neurons or astro-cytes and expressed the neurocyte markers including NSE and GFAP around the grafted site. Treatment group had significantly improved scores compared with sham injury group, TBI group and control group. Conclusions HUCB-MSCs transplantation can potentially improve neurological functional after TBI and may be a good alternative to bone marrow cells for stem cell transplantation or cell therapy.