Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.
Humans ; Abnormalities, Multiple ; Retrospective Studies ; Intellectual Disability/genetics* ; Bone Diseases, Developmental/complications* ; Tooth Abnormalities/complications* ; Facies ; Muscular Dystrophy, Duchenne/complications* ; Muscular Atrophy, Spinal/complications* ; Carrier Proteins ; Nuclear Proteins

OBJECTIVE: To evaluate the efficacy of deep vein thrombosis (DVT) prevention among real-world surgical inpatients who received panax notoginseng saponins (PNS) combined with low-molecular-weight heparin (LMWH). METHODS: A prospective cohort study was conducted among surgical patients between January 2016 and November 2018 in Xuanwu Hospital, Capital Medical University, Beijing, China. Participants received LMWH alone or PNS combined with LMWH for preventing DVT. The primary outcome was incidence of lower extremity DVT, which was screened once a week. Participants in the LMWH group were given LMWH (enoxaparin) via hypodermic injection, 4000-8000 AxalU once daily. Participants in the exposure group received PNS (Xuesaitong oral tablets, 100 mg, 3 times daily) combined with LMWH given the same as LMWH group. RESULTS: Of the 325 patients screened for the study, 281 participants were included in the final analysis. The cohort was divided into PNS + LMWH group and LMWH group with 134 and 147 participants, respectively. There was a significant difference of DVT incidence between two groups (P=0.01), with 21 (15.7%) incident DVT in the PNS + LMWH group, and 41 (27.9%) incident DVT in the LMWH group. Compared with participants without DVT, the participants diagnosed with DVT were older and had higher D-dimer level. The multivariate logistic regression model showed a significant lower risk of incident DVT among participants in the PNS + LMWH group compared with the LMWH group (odds ratio 0.46, 95% confidence interval, 0.25-0.86). There were no significant differences in thromboelaslography values (including R, K, Angle, and MA) and differences in severe bleeding between two groups. No symptomatic pulmonary embolism occurred during the study. CONCLUSION Combined application of PNS and LMWH can effectively reduce the incidence of DVT among surgical inpatients compared with LMWH monotherapy, without increased risk of bleeding.
Anticoagulants/therapeutic use* ; Hemorrhage ; Heparin, Low-Molecular-Weight/therapeutic use* ; Humans ; Panax notoginseng ; Prospective Studies ; Saponins/therapeutic use* ; Venous Thrombosis/prevention & control*

"The Expert Group on Tumor Ablation Therapy of Chinese Medical Doctor Association, The Tumor Ablation Committee of Chinese College of Interventionalists, The Society of Tumor Ablation Therapy of Chinese Anti-Cancer Association and The Ablation Expert Committee of the Chinese Society of Clinical Oncology" have organized multidisciplinary experts to formulate the consensus for thermal ablation of pulmonary subsolid nodules or ground-glass nodule (GGN). The expert consensus reviews current literatures and provides clinical practices for thermal ablation of GGN. The main contents include: (1) clinical evaluation of GGN, (2) procedures, indications, contraindications, outcomes evaluation and related complications of thermal ablation for GGN and (3) future development directions.
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OBJECTIVETo accurately define the injury position of medial patellar retinaculum with acute injury under the guiding of high frequency ultrasonography, and to study therapeutic effects of suture operation on medial patellar retinaculum in the injuried position.

METHODSFrom June 2009 to March 2014, there were 17 patients with acute patellar dislocation, 6 males and 11 females with average age of (16.2±6.2) years old. The duration time of patellar dislocation was 2 weeks. Before operation, the medial patellar retinaculum of all patients were examined with the high frequency ultrasonography, and the skin with the non-continuous fiber was iudicated as the surface mark under the high frequency ultrasonography. The injury position of medial retinaculum was in the middle of 5 patients who were treated with suture operation of arthroscopic medial retinaculum. The injury position was in the patellar edge in 12 patients who were treated with fixing bone anchor on patella and arthroscopic suture operation of medial retinaculum. The CT examination and Kujala scores, patellar tilt angle on CT film, measured maximal angles of passive or active knee flexion and apprehension test were observed before treatment and postoperative 18 months.

RESULTSEighteen months after treatment, Kujala scores were 92.2±11.1 and patellar tilt angle were(11.5±4.2) °, and there was no statistical difference between post-operation and pre-operation. The difference between maximal angles of passive knee flexion(133.5±4.2) ° and normal had no statistically significance. Maximal angles of active knee flexion were(153.5±4.6) °. Ultrasonography showed the continuous fiber of medial retinaculum. A patient showed positive apprehension test and no patient had the recurrence patella instability after operation.

CONCLUSIONSThe injury position of medial patellar retinaculum was accurately shown by high frequency ultrasonography and treated with arthroscopic suture operation. Knee immobilization time after operation was shorten. Eighteen months after operation, knee joint function was good, and no patient had the recurrence patella instability.

Objective To discuss clinical efficacy of patients treated with surgical treatment for posttraumatic elbow stiffness combined with pain.Methods From January 2011 to December 2014,release treatment was performed on 32 cases of posttraumatic contracture of the elbow combined with pain by operation.There were 22 males and 10 females,at average age of 39 years(range from 18 to 65 years).25 cases of these patients with mild-to-moderate pain got a simple elbow release operation.There were 4 cases of severe pain patients complicated with elbow dislocation,after fully release the elbows,reduction was performed under the direct;Both elbow arthrolysis and dermal transplantation interval type elbow arthroplasty were performed in 3 cases of severe pain patients which had severe osteoarthritis.A total of 26 patients were installed hinged external fixator after operation for early functional exercise.Results All patients were followed up for an average time of 14 months(from 12 to 18 months).All patients were significantly improved in the range of elbow and pain symptoms.Postoperative joint function improvement:2 patients with severe stiffness improved to moderate stiffness,19 patients with moderate or severe stiffness improved to mild stiffness,and the remaining of 11 cases without stiffness,The improvement rate was 100％.Postoperative pain:6 cases of moderate or severe pain relieved for mild pain,26 patients pain disappeared,the pain relief rate was 100％.Mayo elbow performance score were evaluated before and after surgery.Preoperative score:the results were good in 6 cases,fair in 14 cases and poorin 12 cases;postoperative score:excellent in 20 cases,good in 8 cases and fair in 4 cases,the good rate is 87.5 ％.The difference between preoperation and postoperation was statistically significant (P＜0.05).Conclusion Elbow arthrolysis combined external fixation is beneficial to early functional rehabilitation and restoring the flexion and extension function of stiff elbow,at the same time,the pain caused by stale dislocation or arthritis of elbow can also get good effect.

OBJECTIVETo investigate the long-term clinical efficacy and adverse effects of botulinum toxin-A (BTX-A) injection in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy.

METHODSEighty children aged 9-36 months with cerebral palsy and gastrocnemius spasticity were selected and randomly divided into a BTX-A injection group and a conventional treatment group (n=40 each). The children in the BTX-A injection group received injections of BTX-A guided by color Doppler ultrasound and 4 courses of rehabilitation training after injection. Those in the conventional treatment group received 4 courses of the same rehabilitation training alone. Before treatment and at 1, 2, 3, and 6 months after treatment, the modified Tardieu scale (MTS) was applied to assess the degree of gastrocnemius spasticity, the values in the passive state measured by surface electromyography (sEMG) were applied to evaluate muscle tension, and the Gross Motor Function Measure (GMFM) was used to evaluate gross motor function.

RESULTSCompared with the conventional treatment group, the BTX-A injection group had significantly greater reductions in MTS score and the values in the passive state measured by sEMG (P<0.05), as well as significantly greater increases in joint angles R1 and R2 in MTS and gross motor score in GMFM (P<0.05). No serious adverse reactions related to BTX-A injection were found.

CONCLUSIONSBTX-A injection is effective and safe in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy.

Botulinum Toxins, Type A ; administration & dosage ; Cerebral Palsy ; drug therapy ; physiopathology ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Muscle Spasticity ; drug therapy ; physiopathology ; Muscle, Skeletal ; drug effects ; physiopathology ; Prospective Studies ; Treatment Outcome

Organic acids are widely distributed in plants and related products, and participate in a wide range of metabolic pathways (e.g. tricarboxylic acid cycle), showing diverse pharmacological activities. As a widely used Chinese patent medicine, its adverse reactions are often reported. Therefore, we should further clarify the chemical components of Shenfu injection, and prepare strict quality standards to ensure the safety and effectiveness of its clinical use. Shenfu injection is prepared from red ginseng (steamed roots of Panax ginseng) and black prepared lateral roots of Aconitum carmichaelii (Heishunpian) by using modern extraction process, and organic acids are regarded as one of its main components. In current study, a hydrophilic interaction chromatography (HILIC) coupled with mass spectrometric method (HILIC-LC-MS) was developed and validated for the simultaneous determination of 14 organic acids, including cinnamic acid, ferulic acid, 4-hydroxylbenzoic acid, L-(+)-lactic acid, adipic acid, fumaric acid, caffeic acid, succinic acid, maleic acid, malonic acid, D-malic acid, (-)-shikimic acid, D-tartaric acid, and quinic acid in Shenfu injection. Satisfactory retention and separation were achieved for all organic acids on HILIC chromatographic column. Except cinnamic acid (231 μg•L⁻¹), lactic acid (113 μg•L⁻¹) and malonic acid (32.5 μg•L⁻¹), the limit of quantitation for the remaining 11 compounds were less than 10 μg•L⁻¹. D-Malic acid, malonic acid, quinic acid, L-(+)-lactic acid, and cinnamic acid were observed to have higher contents in Shenfu injection (>1.89 mg•L⁻¹), whereas caffeic acid and adipic acid were undetectable in all batches. Above all, the developed method is suitable for the simultaneous determination of organic acids in Shenfu and some other traditional Chinese medicine injections.

BACKGROUNDFractional flow reserve (FFR) is currently considered as the gold standard for evaluating the functional significance of coronary stenosis. However, its potential benefits in real-world practice remain unknown in China. This study aimed to test the hypothesis that the use of FFR is associated with improved outcome and reduced cost in Chinese real-world clinical practice.

METHODSA retrospective cohort study was carried out using the database of Second Affiliated Hospital of Zhejiang University, a tertiary and high-volume center in China. Clinical events were compared using the Cox proportional hazards model during a median follow-up of 13 months.

RESULTSThe study cohort consisted of 366 consecutive patients referred for coronary revascularization with adjunct FFR and 366 matched controls, from 2010 to 2014. Major adverse cardiac events (MACEs) (death, myocardial infarction, repeated revascularization, or hospitalization for angina) at 4 years were found in 12.0% of angiography-guided patients and 4.9% in the FFR-guided group (P < 0.001). The mean number of implanted stents was significantly lower in FFR treated subjects (0.52 ± 0.82 stents) compared with the angiography-guided group (0.93 ± 0.96 stents) (P < 0.001). No difference in overall costs at initial hospitalization was observed between angiography-guided percutaneous coronary intervention (PCI) compared with FFR-guided PCI (RMB 33,000 Yuan, range: RMB 7393-44,700 Yuan) versus RMB 21,200 Yuan (RMB 19,100-47,100 Yuan) (P = 0.54). However, costs for MACEs during follow-up were significantly reduced in the FFR-guided arm (P < 0.001).

CONCLUSIONSIn the contemporary clinical practice, FFR-guided PCI is associated with decreased use of stents, improved clinical outcome, and reduced costs, compared with angiography-guided PCI.

Aged ; China ; Costs and Cost Analysis ; Female ; Fractional Flow Reserve, Myocardial ; physiology ; Humans ; Male ; Middle Aged ; Percutaneous Coronary Intervention ; economics ; methods ; Retrospective Studies

Objective To investigate mechanical performances of two different drug eluting stents (DES) during compression process, so as to provide a scientific guideline for design of DES. Methods Using Solidworks, two kinds of stent models, namely the common DES without slots in outside surface (Stent I) and the targeted DES with slots in outside surface (Stent II) were established, respectively. The important mechanical properties of the two stents during compression process, such as rebound ratio of radial contraction, rebound ratio of axial contraction, the inhomogeneity of compression and the distribution of residual stress, were analyzed by ABAQUS. Results With the same outer radius, the difference values of rebound ratio of radial contraction, rebound ratio of axial contraction and inhomogeneity of compressing for the two stents were 0.07%-0.12%, 0.016%-0.033% and 0.013 %-0.048%, respectively; there was a bigger low-stress area on the support of Stent II. Conclusions Compared with the traditional DES, the targeted DES could maintain the same mechanical performances while reducing drug-loading capacity, which shows a good prospect in clinical application of the treatment for cardiovascular stenosis diseases.