By analyzing repeated judicial expertise cases of illegal practice,we find it a serious threat to patients' health and safety,and more deep-seated reasons for illegal medical practice of medicine are discovered as follows.Investigators and expertise staff have to face legal,ethical,social and other factors when judging the relationship between illegal medical practice and adverse consequences(patient injury or death),which are quite worth exploration in depth to clear up the complicated relationships.

Objective To describe and analyze the clinical and laboratory findings in a group of children diagnosed with scleroderma at Beijing Children's Hospital in the last 10 years.Methods The clinical charts of children with scleroderma in the Rheumatology Department at Beijing Children's Hospital,between January 2002 and October 2013 were reviewed.All of them fulfilled the classification criteria for juvenile sclerodema,both systemic scleroderma (SSc) and localized scleroderma (LS) types.T test was used for comparison between the two groups.Results Forty-six patients were enrolled and were diagnosed as scleroderma.Seven patients(15％) suffered from SSc and 39 patients(85％) were LS.Mean age-at-onset of LS was (5±4) years old.The male to female ratio was 1.2:1.Mean age-at-onset of SSc was (9±4) years old.All patients were female.The lesions found in LS were linear scleroderma (54％),mixed morphea (36％),generalized morphea (8％),and panclerotic morphea (3％).Twenty-six patients had internal organs involved.Three patients with nerve system involvement was found in en coup de sabre (ECDS).Systemic involvement included lung and gastrointestinal tract primarily.The heart,nerve system,kidney,eye involvement was also found.One girl had SSc combined with renal crisis.Antinuclear antibodies were positive in 77％ of LS patients and 100％ of SSc patients.Rheumatic factor was positive in 6 patients (15％),5 patients had joint involvement.Tests for anti-Scl-70 antibodies were positive in 5 (71％) patients with SSc.The most common drugs used were methotrexate and prednisone.Conclusion In this study,LS is common in children.SSc is more severe than LS.Multi-center and large sample study is needed to know the characteristics of juvenile scleroderma in China.

Objective To assess the sensitivity and specificity of vaginitis pathogen detection reagent kit (Nucleic acid hybridization). Methods Four hundreds cases of vaginal secretion samples were detected with Amsel, vaginalis culture, fungal culture and Affirm VPIII detection method, respectively. Using the methods of Amsel, vaginalis culture and fungal culture as the gold standard, the clinical application value of Affirm VPIII detection method was evaluated. Results Compared with Amsel, the sensitivity and specificity of Affirm VPIII detection was 92.2%and 70.5%, respectively. Compared with fungal culture, the sensitivity and specificity was 88.3% and 92.9%, respectively. Compared with vaginalis culture, the sensitivity and specificity was 92.6% and 93.8%, respectively. There was a good consistency between the gold stardard and the Affirm VPIII detection. Conclusion Compared with the traditional detection methods,the Affirm VPIII detection has the advantages of fast detection speed,simple operation, and high sensitivity and specificity. In addition, it can identify three kinds of vaginitis pathogenic microorganisms at the same time,with a certain clinical value.

Objective: To analyze the clinical data of children with rheumatic diseases complicated with osteonecrosis and summarize the clinical characteristics, so as to guide clinical work. Methods: The clinical data of 59 children with rheumatic diseases complicated with osteonecrosis from January 2010 to July 2018 were collected and analyzed retrospectively. Results: Among 59 children with rheumatic diseases complicated with bone infarction, 25 cases were systemic lupus erythematosus (SLE), 4 cases were mixed connective tissue disease, 6 cases were juvenile dermatomyositis, 1 case was Takayasu arteritis, 1 case was leukocy to clystic vasculitis, 13 cases were systemic onset juvenile idiopathic arthritis (SJIA), 1 case was polyarthritis, and 8 cases were juvenile ankylosing spondylitis. The median time from the onset of rheumatic diseases to osteonecrosis onset was 18 (7.00, 38.75) months. A total of 115 joints were involved in 59 children, the most common of which were bilateral hips and knees. Twenty-five were single joint involvement and 34 were multiple joints involvement. There were 37 cases (63%) with vasculitis, 9 cases (15%) with oralulcer, 5 cases (8%) with Raynaud's phenomenon, 31 cases (53%) with Cushing's face, 18 cases (31%) with kidney involvement, 25 cases (42%) with hypertension, and 12 cases (24%) with spinal compression frac- tures. According to statistics, 10 children with osteonecrosis occurred without glucocorticoid intake. The longest duration of glucocorticoid therapy was 13 years, and the average duration was about (27±35) months whensymptomatic osteonecrosis occurred. The median cumulative dose of prednisone was 381.9(209.77, 561.19) mg/kg. Conclusion SLE, SJIA and juvenile ankylosing spondylitis are the three most common rheumatic diseases in children with osteonecrosis. The locations of osteonecrosis are mostly the bilateral hips and knees. It is necessary to strengthen joint examination, physical examination and imaging screening for children with rheumatic diseases after 18 months of onset, so early detection, early treatment are the strategy to improve the prognosis of the diseases.

Objective:To explore the clinical characteristic and prognosis of juvenile dermatomyositis (JDM) by retrospectively study of the clinical manifestations, laboratory examinations, treatment and follow-up results. The aim of this study was to improve the diagnosis and treatment of JDM and reduce the complications and mortality.Methods:Medical charts of 612 JDM cases hospitalized to Beijing children's hospital from July 2002 to July 2018. We retrospectively analyze the onset, clinical manifestations, laboratory examinations, treatment and the follow-up, and then summarize the clinical characteristics and assess the therapeutic effect and prognosis.Results:There were 278 male and 334 female. The maleto female ratio was 1∶1.2. Themedian age at symptoms onset was 5.4(2.9-8.4) years old (range 6 months to 14 years). Rash was the most common initial presentation. The main clinical manifestations were rash (100%, 612 cases) and muscles weakness (96.1%, 588 cases). The most commonly involved organs by JDM were lung (57.5%, 352 cases), digestive tract (38.5%, 236 cases) and heart (32.5%, 199 cases). Muscle enzymes elevated in 95.5% (584 cases) of the patients and 89.5%(534 cases) of the patients had typical changes on electromyography. Muscle biopsy was performed in 134 patients and pathologicresults were compatible with JDM. For the treatment, all of the patients were treated by steroids plus therapy combined with immunosuppressive agents. Mostof the patients got good effect and outcome. Twenty-four patients died, and acute respiratory failurewas the most common cause of death. 17.9%(105 cases) of patients had complications. The complications included calcinosis in 70 patients and amyotrophy in 35 patients.Conclusion:JDM is a rare disease of children, andis characterized by muscle weaknessand rash. Severe organ involvement may cause death. Treatments include corticosteroids and immunosuppressive agents, andthe outcome is generally good.

Objective To explore the gene mutation,clinical phenotype,treatment and prognosis of chronic infantile neurologic,cutaneous,articular (CINCA) syndrome,so as to improve the diagnosis rate,reduce the disability rate and teratogenicity rate of CINCA syndrome.Methods Ten children with CINCA syndrome admitted to our hospital were retrospectively analyzed in terms of the clinical phenotypes,auxiliary examinations,treatment and follow-up.Three ml ethylene diamine tetraacetic acid (EDTA) anticoagul-ation was taken from children and their parents with the consents.Genomic DNA was extracted by QIAamp whole blood Deoxynbonucleic acid (DNA) extraction kit (German Qiagen Company).The whole exons were detected by Agilent liquid phase capture technology (Agilent Company).Finally,Sanger sequencing was used to verify the results.Results In this study,eight mutations of NLRP3 gene were found in children with CINCA syndrome,namely 913G/A (D305N),1057G/T(V353L),1702T/A (F568I),1703T/A (F568Y),1710G/C (K570N),1789A/G (S597G),1991T/C (M664T),2269G/A (G757R).The onset age of most of the cases was less than half a month,and the initial manifestation was mainly urticaria-like rash.Short stature and special face could be seen in all 10 cases.All the patients had fever and urticarial rash in varying degrees during the course of the disease.Nine of them had obvious arthritis.Nine children had central nervous system involvement.There were 8 cases of binaural nervous deafness,7 cases of binocular optic neuritis,and 6 cases of hepato-splenomegaly and/or lymphadenopathy.Amyloid A was significantly increased.Glucocorticoids and immunosup-pressive agents are the basic drugs for the treatment of this disease.If the curative effect was not good,biological agents should be added early to alleviate the disease.Conclusion CINCA syndrome is a rare autosomal dominant hereditary disease,the main clinical manifestations of which are skin,joint and central nervous system involvement,and even amyloidosis of organs.Early diagnosis and active treatment can reduce the involvement of important organs.

Objective:To investigate the clinical characteristics and follow-up of thrombosis of pediatric patients with systemic lupus erythematosus (SLE).Methods:In this retrospective study, inpatients who were diagnosed in Beijing Children's Hospital with SLE complicated with arterial or venous thrombosis from January 2006 to December 2019 were collected, the clinical characteristics and outcomes were analyzed. Statistical product and Service solutions (SPSS) 25.0 was used for statistical analysis. T test or χ2 test (counting data) was used to compare the differences between groups, and Kaplan-Meier survival curve was used to analyze the time of thrombus endpoint events in lupus children. Results:A total of 1 395 newly diagnosed SLE patients were admitted. Twenty-seven cases were diagnosed with thrombosis, accounting for 1.9% of all the lupus patients. The median course from diagnosis to thrombosis was 20 days (49 days before diagnosis to 1 year after dia-gnosis). Among the 27 patients, 22(81%) cases had renal involvement. The mean SLE disease activity index (SLEDAI) score was (14±6) and (11±4) at the diagnosis of lupus and at onset of thrombosis, respectively ( t=2.547, P=0.017). 30% (8/27) of the patients had no apparent clinical manifestations of thrombosis. The patients received standard anticoagulant therapy after the diagnosis of thrombosis. During follow-up, 6 patients stopped taking medications due to the severity of the primary disease. Twenty-one patients were followed up regularly for 1-3 years. Thrombosis disappeared in 12 cases (44%), thrombolysis time ranged from 16 days to 1 year. Thrombosis were getting smaller in 9 cases (33%). And the disease was stable during follow up. Conclusion:Thrombosis is not rare in pediatric patients with systemic lupus erythematosus patients. Some patients do not have apparent clinical manifestations related to thrombus. Pediatricians should be alert to patients with renal involvement need to be more vigilant for thrombosis. Early detection and active treatment are the keys to improve the prognosis of thrombosis in pediatric SLE patients.

In recent decades, event-related potentials have been used for the clinical electrophysiological assessment of patients with disorders of consciousness (DOCs). In this paper, an oddball paradigm with two types of frequency-deviant stimulus (standard stimuli were pure tones of 1000 Hz; small deviant stimuli were pure tones of 1050 Hz; large deviant stimuli were pure tones of 1200 Hz) was applied to elicit mismatch negativity (MMN) in 30 patients with DOCs diagnosed using the JFK Coma Recovery Scale-Revised (CRS-R). The results showed that the peak amplitudes of MMN elicited by both large and small deviant stimuli were significantly different from baseline. In terms of the spatial properties of MMN, a significant interaction effect between conditions (small and large deviant stimuli) and electrode nodes was centered at the frontocentral area. Furthermore, correlation coefficients were calculated between MMN amplitudes and CRS-R scores for each electrode among all participants to generate topographic maps. Meanwhile, a significant negative correlation between the MMN amplitudes elicited by large deviant stimuli and the CRS-R scores was also found at the frontocentral area. In consequence, our results combine the above spatial properties of MMN in patients with DOCs, and provide a more precise location (frontocentral area) at which to evaluate the correlation between clinical electrophysiological assessment and the level of consciousness.
Acoustic Stimulation ; Adolescent ; Adult ; Aged ; Auditory Perception ; physiology ; Brain Injuries ; complications ; physiopathology ; Consciousness Disorders ; etiology ; physiopathology ; Electroencephalography ; Evoked Potentials ; Female ; Humans ; Male ; Middle Aged ; Neuropsychological Tests ; Severity of Illness Index ; Wavelet Analysis

【Objective】 To study the correlation between platelet transfusion efficacy and KIR receptor-HLA ligand. 【Methods】 Thirty-three leukemia patients with positive HLA antibody were tested for cross-matching with donor platelets. Platelets from suitable donors were selected for transfusion, and the 24-hour platelet corrected count increment (CCI) was used to determine the transfusion effect. KIR and ligand genotyping were performed on blood samples from patients and donors by PCR-SSP method, and the relationship between platelet transfusion effects and KIR receptor-HLA ligand was analyzed. 【Results】 In 74 occasions of platelet transfusion, 42 were ineffective and 32 were effective. When the donor had C2 gene and HLA-B Bw4-80T gene, the frequency of ineffective platelet transfusion in the recipient was 69.0% (29/42) and 52.4% (22/35), respectively, which was significantly higher than that in the effective group [25.0% (8/32) and 25.0% (8/32)]. When the donor had C1 gene, and the frequency of effective platelet transfusion in the recipient was 100.0%(32/32), which was higher than that in the ineffective group [83.3%(35/42)]. When the recipient-donor matching mode was KIR2DL1-C2 and KIR3DL1-(HLA-B Bw4-80T), the frequency of ineffective platelet transfusion was 69.0%(29/42) and 40.5%(22/42),higher than that of the effective group [25% (8/32) and 18.8% (6/32)]. When the recipient-donor matching model was KIR2DL3-C1, the rate of effective platelet transfusion in 32 patients (100.0%), which was higher than that (35 patients 83. 3%) in the ineffective group. When the mismatch mode of recipient iKIR+donor HLA ligand receptor was KIR2DL1-C2, the frequency of effective platelet transfusion in the recipient was 78.1% (25/32), which was much higher than that in the ineffective group [31.0% (13/42)]. When the mismatch mode was KIR3DL1-(HLA-B Bw4-80T), the rate of effective platelet transfusion in the recipient was 68.8% (22/32), which was higher than that in the ineffective group (42.9%, 18/42). The difference between the above groups was statistically significant(P<0.05). 【Conclusion】 HLA-C1 and HLA-C2 genes are the key factors affecting the efficacy of platelet transfusion.For platelet refractorines, HLA-C1 is the protective gene, while HLA-C2 and HLA-B Bw4-80T are the susceptible genes. The recipient iKIR+donor HLA ligand receptor model may play an important role in platelet refractoriness.

Objective: To evaluate the diagnostic efficacies of BRAF^V600E testing and Bethesda system for reporting thyroid cytopathology (BSRTC) in thyroid nodules with thyroid imaging reporting and data system (TIRADS) category 4 and 5. Methods: A total of 187 thyroid nodules in 187 patients underwent the examinations of ultrasound-guided fine needle aspiration cytology (FNAC) and BRAF^V600E mutation were analyzed retrospectively. Receive operating characteristic (ROC) curve was used to investigate the diagnostic values of both methods and the clinical application of BRAF^V600E combined with BSRTC was evaluated. SPSS17.0 software was used to analyze the data. Results: Among 187 thyroid nodules, 123 were malignant nodules confirmed with histopathological examination and 64 benign nodules determined by FNAC, histopathological examination, or long-term follow-up. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of BRAF^V600E test were better than those of BSRTC [69.1%, 98.4%, 98.8%, 62.4%(χ²=77.3, P=0.000) vs 62.6%, 93.8%, 95.1%, 56.6%(χ²=54.4, P=0.000)]. While the sensitivity, specificity, PPV and NPV of the combined test of BRAF^V600E and BSRTC for diagnosis of malignant thyroid nodules were 87.8%, 92.2%, 95.6%, 79.7%(χ²=112.6, P=0.000), respectively. The area under the ROC curve for the combined test was higher than that for each of tests (0.900 vs 0.858 or 0.838). Conclusions The combined test of BRAF^V600E mutation and BSRTC has a higher diagnostic efficacy for malignant thyroid nodules compared with BRAF^V600E mutation or BSRTC alone.