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Objective:To investigate the preoperative nutritional status of cardiac surgery patients in southwest China, analyze the incidence and characteristics of nutritional risk, and provide basis for establishing a standardized individualized nutritional intervention program for cardiac surgery patients.Methods:A cross-sectional survey was conducted on the nutritional status and intervention status of preoperative patients in cardiac surgery department of 23 general hospitals in Yunnan, Guizhou, Sichuan and Chongqing districts. At 00: 00 on July 7, 2022, the patients aged > 18 years old in cardiac surgery departments of the above hospitals who planned to undergo surgical treatment were enrolled as the survey objects to investigate the nutritional status on July 6, 2022 (the survey date), including basic information (general information, nutrition indicators, etc.), nutrition screening and evaluation (nutrition risk screening and organ support, etc.), nutrition treatment (nutrition supplement methods and prescriptions, etc.) and nutrition awareness of medical staff.Results:The 126 questionnaires were collected, of which 125 were valid (99.2%). ① Basic information: of the 125 patients, 67 patients were male (53.6%) and 58 patients were female (46.4%). The age ranged from 19 years old to 86 years old, with an average of (53.13±14.74) years old. Body mass index (BMI) was (22.21±3.78) kg/m 2. The age and BMI of men were significantly higher than those of women [age (years old): 56.63±13.34 vs. 49.09±15.35, BMI (kg/m 2): 22.74±3.86 vs. 21.59±3.61, both P < 0.05]. Of the 125 patients, 75 had valvular disease and 50 were with non-valvular diseases, which mainly included congenital heart disease [19 cases (15.2%)], aortic dissection [13 cases (10.4%)], coronary heart disease [12 cases (9.6%)], etc. The course of disease was 0.5 hour to 36 years, of which 93 patients (74.4%) were more than 6 months and 32 patients (25.6%) were equal to or less than 6 months. The proportion of female patients with disease duration > 6 months was significantly higher than that of male patients [87.9% (51/58) vs. 62.7% (42/67), P < 0.01]. The basic diseases mainly included hypertension [38 cases (30.4%)], coronary heart disease [12 cases (9.6%)], diabetes [7 cases (5.6%)], chronic obstructive pulmonary disease [COPD, 6 cases (4.8%)], etc. Among 125 patients, total protein (TP) < 60 g/L in 24 cases (19.2%), albumin (Alb) < 40 g/L in 64 cases (51.2%), anemia [male hemoglobin (Hb) < 120 g/L, female Hb < 110 g/L] in 33 cases (26.4%). A total of 60 cases of prealbumin data were collected, of which 23 cases (38.3%) were less than 200 mg/L.② Nutrition screening and assessment: 33.6% of the 125 patients did not undergo routine nutrition screening after admission, including the provincial and municipal tertiary hospitals. Among the 83 patients undergoing nutritional screening, 41 (32.8%) were at nutritional risk. Further analysis of patients with nutritional risk showed that of the 41 patients, 20 were male (48.8%) and 21 were female (51.2%); 27 cases (65.9%) was with valvular diseases and 14 cases (34.1%) was with non-valvular diseases; the course of disease was more than 6 months in 30 cases (73.2%), and ≤ 6 months in 11 cases (26.7%). Statistical comparison of the above 83 patients showed that women, basic disease, long term-valvular disease, anemia, low TP, and low Alb before operation were more prone to innutrition. ③ Nutritional therapy: of the 125 patients, 5 were receiving mechanical ventilation (4.0%) and 2 were using vasoactive drugs (1.6%); there were 5 cases with gastrointestinal dysfunction (4.0%), mainly manifested as abdominal distension, abdominal pain, constipation and diarrhea. One patient was treated with enteral nutrition through gastric tube combined with parenteral nutrition support, 124 patients were fed orally, and an irregular phenomenon of injecting amino acid fat emulsion through peripheral vein in 2 patients. ④ Nutrition awareness of medical staff: 124 (99.2%) of the 125 patients had a nutrition department in their hospital; 71 cases (56.8%) received nutrition education, of which 37 cases (52.1%) were consulted by the nutrition department. Of all the cases, only 38 (30.4%) were consulted by the nutrition department, of which 1 (2.6%) did not receive nutrition education after consultation. Conclusions:At present, the incidence of preoperative malnutrition in patients undergoing cardiac surgery is high in southwest China. The incidence of malnutrition in patients with basic diseases, long term-valvular disease, low TP, low Alb and anemia before operation is higher, and the incidence of malnutrition is hidden in women. The course of disease of women is longer than that of men at the time of treatment, and malnutrition is more likely to occur. The attending physicians should pay attention to the above groups. It is necessary to establish a standardized individualized nutritional intervention program and apply it to actual clinical diagnosis and treatment, so as to ultimately improve the prognosis of patients undergoing cardiac surgery and increase the benefits of patients in treatment.
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To analyze a case of thin basement membrane nephropathy combined with juvenile idiopathic arthritis diagnosed in November 2017 in Children′s Hospital of Chongqing Medical University.A male patient with 7 years and 11 months old presented with swelling of bilateral interphalangeal joints and abnormal gait was diagnosed as juve-nile idiopathic arthritis.Urine examination revealed microscopic hematuria.Long-term follow-up after discharge showed recurrent joint symptoms and persistent microscopic hematuria.In February 2019, genetic testing showed the COL4A4 gene mutation (c.3479G>A p. G1160E). Through literature review, a case of rheumatoid arthritis complica-ted with Alport syndrome caused by the COL4A5 gene mutation c. 1351T>C (p.Cys451Arg) was previously reported.Both of 2 patients were diagnosed as collagen type Ⅳ-related renal diseases complicated with arthritis, and multiple joints involvement and renal involvement were detected.Excluding the influence of accidental factors and drugs, arthritis and some kidney diseases may have a co-pathogenesis under genetic background.The specific mechanism needs further exploration.This case report provided novel direction for the diagnosis and treatment of relevant diseases.
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Objective:To investigate the clinical characteristics of children with Kawasaki disease (KD) complicated with atlantoaxial rotatory subluxation (AARS).Methods:Clinical characteristics of 60 AARS patients complicated with KD (the atlantoaxial rotatory subluxation group) and 60 patients with KD only diagnosed (the control group)in the Children′s Hospital of Chongqing Medical University from December 2010 to December 2019 were retrospectively analyzed.Differences between groups were compared by the Chi- square test and the t test. Results:A total of 8 365 KD patients were diagnosed during the study period, involving 60 cases (0.72%) complicated with AARS.which usually occurred in the acute phase with the onset ages of 3 to 6 years ( P<0.001). Initial clinical symptoms of KD complicated with AARS included fever with restricted neck movement (100.00%), neck mass (66.67%), torticollis (21.67%) and neck pain (11.67%). CT or X-ray exa-mination of the neck indicated AARS, with thickening and swelling of the cervical soft tissues in some cases.Compared with those of control group, red, dry, cracked lips ( P=0.01) and cervical lymph node swollen ( P<0.001) were significantly pronounced in KD patients complicated with AARS.The absolute and relative count of neutrophils were significantly higher in KD patients complicated with AARS (all P< 0.05). Cervical soft tissue swelling and thickening in B-ultrasound were more obvious than those in the control group( P<0.05). However, there were no significant differences in coronary artery lesions and the response to intravenous immunoglobulin (IVIG) combined with Aspirin between groups ( P>0.05). Head traction could relieve neck symptoms to a certain extent, but there was no significant difference between groups ( P>0.05). Conclusions:Cervical lymphadenopathy, red, dry, cracked lips, increase of absolute and relative count of neutrophils, and swelling and thicke-ning of cervical soft tissues were the high-risk factors of KD complicated with AARS.The complication of AARS in KD patients did not increase the risk of coronary artery injury and IVIG resistance.IVIG combined with aspirin achieved a good prognosis in the majority of KD patients complicated with AARS.
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Objective To systematically review the efficacy of different artificial liver support systems in the treatment of acute-on-chronic liver failure (ACLF) using a network Meta-analysis. Methods PubMed, Embase, the Cochrane library, Clinical Trial, CNKI, SinoMed, and Wanfang Data were searched for randomized controlled trials (RCTs) on different artificial liver support systems in the treatment of ACLF. Literature screening, data extraction, and method ological quality assessment were performed according to inclusion and exclusion criteria, and Stata15.1 software and R4.1.0 software were used to perform a network Meta-analysis. Results A total of 14 RCTs were included, with 1141 patients in total. The network meta-analysis showed different intervention methods had no significant difference in reducing mortality rate based on cross comparison (all P > 0.05). The probability ranking diagram showed that plasma exchange (PE) showed the best effect in reducing 30-day mortality rate, followed by extracorporeal liver assist device (ELAD), fractionated plasma separation and adsorption with Prometheus system, molecular adsorbent recirculating system (MARS), Biologic-DT liver dialysis device, and PE+MARS. PE showed the best effect in reducing 90-day mortality rate, followed by Prometheus, ELAD, and MARS. Biologic-DT showed the best effect in improving hepatic encephalopathy, followed by MARS, PE+MARS, and ELAD. Patients undergoing ELAD had the lowest risk of bleeding, and compared with standard medical treatment, Biologic-DT might increase the risk of bleeding [risk ratio=1.9×10 8 , 95% confidence interval: (4.6-6.2)×10 27 ]. Conclusion PE might be the best option for reducing 30- and 90-day mortality rates in ACLF patients. Biologic-DT has a better effect in improving hepatic encephalopathy, but it may increase the risk of bleeding.
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Objective To study the demographic and clinical characteristics, correlation of genotype and phenotype and treatment of Blau syndrome to facilitate early diagnosis and timely treatment of Blau syndrome. Methods Seventy-two patients with Blau syndrome from 11 centers from May 2006 to April 2022 were retrospectively analyzed, and their general information, clinical data, laboratory examination and treatment medication were collected. Results The distribution of patients with Blau syndrome was uniform in geographical north and south of China, and there was no obvious gender bias. The mean age of onset was (14.30±12.81) months, and the age of diagnosis was (55.18±36.22) months. 35% of patients with Blau syndrome happened before 1 year old, and all patients developed before 5 years old. 87.50% (63/72) had granulomatous arthritis, 65.28% (47/72) had rash, 36.11% (26/72) had ocular involvement, 27.78% (20/72) had fever, and 15.28% (11/72) had pulmonary involvement. Arthritic manifestations of Blau syndrome were most at risk, followed by rash, ocular involvement, and fever.The first 25 months of the disease, the risk of developing a rash was the greatest. The risk of developing arthritis was the greatest between 25 months and 84 months. The main mutations were p.R334Q and p.R334W, and patients with p.R334Q mutation had relatively high incidence of fever (35.71%[5/14] vs. 14.29%[1/7], P=0.43) and ocular involvement (42.86%[6/14]vs. 28.57%[2/7], P=0.51). There was a relatively high incidence of rash (85.71%[6/7] vs. 64.29%[9/14], P=0.59) in patients with the p.R334W mutation. Forty-five patients(62.50%)were treated with a combina-tion of glucocorticoid and methotrexate. Twenty-two patients were treated with tumor necrosis factor antagonist in addition to glucocorticoid and methotrexate. Conclusions The risk of different clinical manifestations of Blau syndrome from high to low was arthritis, followed by rash, ocular involvement and fever. The main treatment was glucocorticoid combined with methotrexate, to which biological agents could be added.
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Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases characterized by chronic inflammatory arthritis of unknown cause, lasting six weeks or longer, and accompanied by organ damages. It is the most common chronic inflammatory rheumatic disease in childhood with unclear aetiology. A20, a protein encoded by the tumor necrosis factor α-induced protein 3 gene (TNFAIP3), regulates cell inflammatory response and apoptosis through suppressing inflammatory NF-κB signaling by acting as an ubiquitin-editing enzyme. NOD-like receptor protein 3 (NLRP3) inflammasome, a multiprotein complex formed by a subgroup of intracellular pattern recognition receptors, mediates the activation of caspase-1 and the secretion of proinflammatory cytokines IL-1β and IL-18 in response to microbial infection and cellular damage. A20 could directly reduce the basal expression of NLRP3 to impair caspase-1 activation and inhibit the assembling of NLRP3 inflammasome by suppressing the activation of NF-κB, playing a crucial anti-inflammatory role in JIA. A20 and NLRP3 inflammasome may be promising prognostic markers and therapeutic targets in JIA. This review summarized the structure and biological function of A20 and NLRP3 inflammasome and analyzed their roles in the genetic susceptibility and pathogenesis of JIA.
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Objective:To summarize the treatments and outcomes of patients with chronic granulomatous disease (CGD), so as to improve the management of the disease and improve the quality of life of the patients.Methods:Clinical data of 82 children with CGD hospitalized at Children′s Hospital of Chongqing Medical University and born between January 1999 and December 2016 were collected.Patients were divided into the survival group and the death group.The general information, infectious events and inflammatory complications, as well as treatments and survival situations were analyzed.Results:Among the 82 cases, 55 cases (67.1%) were in the survival group and 27 cases (32.9%) were in the death group.Forty-nine (59.8%) cases developed manifestations in the neonatal period.Specifically, there was a statistically significant difference ( P<0.05) in the proportion of patients who deve-loped manifestations in the neonatal period between the death group (81.5%) and the survival group (49.1%). Fifty-eight (70.7%) cases started to receive Compound Sulfamethoxazole since diagnosis, with an average duration of 36.8 months.Fifty-two (63.4%) cases received Voriconazole or Itraconazole to prevent fungal infection, with an average duration of 34.3 months.There were 288 hospitalizations due to infections in total.The detection rate of bacteria, fungi and mycobacterium tuberculosis was 41.3%, and the rate in the death group (51.8%) was higher than that in the survival group (36.9%)( P<0.05). Klebsiella pneumoniae, Staphylococcus aureus, Burkholderia onion and Escherichia coli were the most frequent bacteria detected, among which Klebsiella pneumoniae and Escherichia coli were all exten-ded-spectrum β-lactamases positive.The use of advanced-antibiotics in the death group (70.4%) was higher than that in the survival group (40.0%) ( P<0.05). Seventeen (20.7%) cases developed inflammatory complications, mainly including interstitial lung disease or pulmonary fibrosis, inflammatory bowel disease and incomplete Kawasaki disease.Thirty-two (39.0%) cases received hematopoietic stem cell transplantation (HSCT), of which 25 patients (78.1%) were transplanted in Children′s Hospital of Chongqing Medical University, with a success rate of 96.0% (24/25 cases). The Kaplan-Meier survival curves showed a worse prognosis in those who developed manifestations in neonates, rely on advanced-antibiotics, and did not receive transplantations. Conclusions:The earlier the clinical manifestations appear, and the higher the utilization rate of advanced-antibiotics used, the more serious the condition is.Conservative treatment with drugs is still insufficient, and the emergence of drug-resistant bacteria increases the difficulty of managements.The recognition and treatments of inflammatory complications needs more explorations.HSCT is so far the only curative therapy for CGD in China.
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Juvenile dermatomyositis(JDM)is a common autoimmune inflammatory myopathy in childhood.The manifestations are specific skin lesions, chronic muscular inflammation and systemic vasculitis.The treatment was mainly glucocorticoid combined with immunosuppressive agents, the overall prognosis of JDM was better than that of adults.The key to improve the prognosis of patients is to make identification and management of severe cases.This paper introduced the clinical characteristics of severe JDM, myositis specific antibody and pulmonary imaging changes, focusing on the clinical characteristics of pulmonary lesions, examinations and treatment strategies, in order to improve the recognition and diagnosis of severe JDM.
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High mobility group box 1 is a kind of non-histone protein which expressed in the nucleus of eukaryotic cells.Which can promote inflammatory reaction and participate in the positive feedback loop of the production of cytokines after translocated outside the cells.As a result, it′s closely related to the pathogenesis of various autoimmune and inflammatory diseases.Recent studies have revealed that high mobility group box 1 may serve as a serum marker of Henoch-Sch?nlein purpura nephritis and lupus nephritis, and a predicator of the prognosis of juvenile idiopathic arthritis and intravenous immunoglobulin resistance in Kawasaki disease.
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Objective@#To analyze the clinical , immunological and genetic features of a child with BCL11B mutation induced neurodevelopmental disorder.@*Methods@#The clinical data and genetic test of a child with BCL11B mutation hospitalized in the Department of Rheumatology and Immunology in Children′s Hospital of Chongqing Medical University in December 2018 were extracted and analyzed. The literature was searched with "BCL11B mutation" and "immunodeficiency 49" as key words in Chinese databases and Pubmed until January 2019 was reviewed.@*Results@#A male patient aged 3 years and 11 months with facial dysmorphisms and delayed language and motor development was admitted due to neurodevelopmental retardation over two years. Laboratory tests showed normal human immunoglobulin (IgG 12.90 g/L, IgA 1.02 g/L, IgM 1.15 g/L, IgE 532 000 U/L), Trec (228) and proliferation of T and B cells. The lymphocyte subsets revealeda reduced percentage of B cells (0.108) but normal absolute numbers (0.574×10-3/L), and an increased percentage (0.828) as well as absolute numbers (4.415×10-3/L) of T cells. A heterozygous BCL11B mutation was detected by sanger sequencing, showing a de novo frameshift mutation c.1887_c.1893delCGGCGGG in exon 4. Two papers were found which were all in English, with total of 14 patients(13 patients with complete information). Thirteen mutations were reposed, including 7 frameshift, 2 nonsense, 2 missense, and 2 chromosomal rearrangements; Thirteen patients had heterozygous mutations. All patients had delayed language and motor development and facial dysplasia which were mainly hypertelorism, thin eyebrows and small palpebral fissures. Some patients had dental anomalies, ametropia and allergy, and a few were combined with immune impairment, but without overt signs of immunodeficiency. Only one patient had multisystem anomalies and profound immune deficiency.@*Conclusions@#BCL11B is essential for development of the nervous and the immune system. In this study, the de novo mutation of BCL11B gene resulted in neurodevelopmental and immunological disorders.
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Objective To investigate the high risk factors for early coronary artery aneurysms (CAA)early complicated with Kawasaki disease (KD) in inpatient children.Methods Totally 679 inpatient children with KD from January 2005 to December 2011 in Children's Hospital of Chongqing Medical University were enrolled in this study.These data were analyzed by Chi-square test to analyze the possible risk factors for CAA.Multiple Logistic regression analysis was performed to estimate the OR and 95％ CI for the risk factors.Results There were 385 (56.70％) male and 294(43.30％) female cases with the onset ages of 2 months to 15 years and 7 months.There were 32 cases (4.71％) of CAA,among them,8 cases resistant to intravenous immunoglobulin (IVIG).In total 32 cases of CAA,25 cases were treated with 2 g/(kg · time) IVIG for 1 to 3 times,and 2 cases were also treated by methylprednisolone.The other 7 cases of CAA were treated with IVIG less than or equal to 1 g/(kg · time) for 4 to 7 times.There were 6 recurrent KD cases (0.88％),occurred on the 2nd-18th month after the onset of the illness,including 1 case complicated with CAA.There was no death case during the acute stage.The monofactor analysis showed that male,duration of fever ≥ 10 d,time of treatment with IVIG ≥7 d,hemoglobin＜ 100 g/L,erythrocyte sedimentation rate ≥ 100 mm/1 h,serum albumin ＜ 30 g/L were associated with early complicated CAA (all P ＜ 0.05).However,the age,white blood cells,platelets,C-reactive protein were not associated with early complicated CAA (all P ＞ 0.05).The multiple Logistic regression analysis showed that hemoglobin ＜ 100 g/L (OR =2.99,95％ CI:1.01-8.75,P =0.04),duration of fever ≥ 10 d (OR =6.67,95 ％ CI:1.57-22.54,P =0.01),time of treatment with IVIG ≥ 7 d (OR =3.57,95 ％ CI:1.12-11.02,P =0.02) were the independent risk factors for CAA.Conclusions The levels of hemoglobin ＜100 g/L,duration of fever ≥ 10 d and time of treatment of IVIG ≥7 d are the independent risk factors for CAA.
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Objective@#To investigate the high risk factors for early coronary artery aneurysms(CAA)early complicated with Kawasaki disease (KD) in inpatient children.@*Methods@#Totally 679 inpatient children with KD from January 2005 to December 2011 in Children′s Hospital of Chongqing Medical University were enrolled in this study.These data were analyzed by Chi-square test to analyze the possible risk factors for CAA.Multiple Logistic regression analysis was performed to estimate the OR and 95%CI for the risk factors.@*Results@#There were 385(56.70%) male and 294(43.30%) female cases with the onset ages of 2 months to 15 years and 7 months.There were 32 cases (4.71%) of CAA, among them, 8 cases resistant to intravenous immunoglobulin (IVIG). In total 32 cases of CAA, 25 cases were treated with 2 g/(kg·time) IVIG for 1 to 3 times, and 2 cases were also treated by methylprednisolone.The other 7 cases of CAA were treated with IVIG less than or equal to 1 g/(kg·time) for 4 to 7 times.There were 6 recu-rrent KD cases (0.88%), occurred on the 2nd-18th month after the onset of the illness, including 1 case complicated with CAA.There was no death case during the acute stage.The monofactor analysis showed that male, duration of fever ≥ 10 d, time of treatment with IVIG ≥7 d, hemoglobin < 100 g/L, erythrocyte sedimentation rate ≥100 mm/1 h, serum albumin < 30 g/L were associated with early complicated CAA(all P<0.05). However, the age, white blood cells, platelets, C-reactive protein were not associated with early complicated CAA(all P>0.05). The multiple Logistic regression analysis showed that hemoglobin <100 g/L (OR=2.99, 95%CI: 1.01-8.75, P=0.04), duration of fever ≥ 10 d (OR=6.67, 95%CI: 1.57-22.54, P=0.01), time of treatment with IVIG ≥7 d(OR=3.57, 95%CI: 1.12-11.02, P=0.02) were the independent risk factors for CAA.@*Conclusions@#The levels of hemoglobin<100 g/L, duration of fever ≥ 10 d and time of treatment of IVIG ≥7 d are the independent risk factors for CAA.
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Objective@#To investigate the clinical, immunological, and molecular manifestations of nuclear factor kappa-B subunit 2 (NFκB2) gene mutation associated common variable immunodeficiency (CVID) .@*Methods@#A 14-month-old boy diagnosed with NFκB2-mutated CVID was admitted into Children's Hospital of Chongqing Medical University in December 2015. The clinical manifestations, biochemical tests, immunological function, molecular features, treatment, and follow-up of the patient were analyzed. The Chinese and PUBMED databases were searched with the key words "NFκB2" and "immune deficiency" and related literatures were reviewed.@*Results@#The patient had 4 episodes of pneumonias and one otitis media since the age of 6 months. The serum immunoglobulin levels were IgG 2.73 g/L, IgA<0.07 g/L, and IgM 0.12 g/L. The percentage of peripheral lymphocyte subsets demonstrated increased CD3+T lymphocyte (81.8%), increased CD4+ naïve T cell (39.1%), normal B cell (14.1%), low switched memory B and plasmablast B (respectively 0.1% and 0), and lightly diminished natural killer(NK) cell (4.13%). Within the peripheral CD4+T cells, the percentage of regulatory T cells (1.49% (control 4.08%)), T follicular helper (3.66% (control 11.0%)), and T helper 17 (9.65% (control 15.7%)) were decreased, while the percentage of T helper 2 (60.9% (control 46.5%)) was elevated. T lymphocyte proliferative response and T cell receptor repertoire diversity were normal. NK-cell cytotoxic activity was impaired. The whole-exome sequencing harbored a de novo heterozygous nonsense mutation in exon 22 (c.2557C>T; p. Arg853X) in the C-terminus of NF-κB2. The western blotting confirmed the decreased expression of NF-κB2 (p52) protein. The patient received intravenous immunoglobulin infusion monthly (400-600 mg/kg), followed by improvement of pulmonary infection. After searching the databases, a total of 28 cases (1 Chinese and 27 non-Chinese) were identified. There were 12 cases of nonsense mutation (5 were gain-of-function mutation), and 8 cases of missense and frameshift mutations, respectively. The main clinical manifestation was respiratory infection, followed by autoimmune diseases such as alopecia and trachyonychia. Fifteen cases developed adrenocorticotrophic hormone (ACTH) deficiency.@*Conclusions@#NF-κB2 signaling pathway played an important role in T and B lymphocyte differentiation, and NK-cell cytotoxic activity. NFκB2 mutation should be considered in cases with recurrent infections, hypogammaglobulinemia, and decreased memory B cells and plasma cells, especially when combined with ACTH deficiency.
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Objective To investigate the clinical features,auxiliary examination,treatment and efficacy of human leucocyte antigen(HLA)-B27-positive enthesitis related arthritis (ERA).Methods The clinical manifestations,auxiliary examination,treatment and follow-up of HLA-B27-positive ERA diagnosed in the Children's Hospital of Chongqing Medical University from January 2007 to August 2017 were analyzed retrospectively.SPSS 19.0 software was used for data processing.Results A total of 70 children were enrolled,including 67 males and 3 females,and the average age of onset was(10.08 ± 2.67) years old.Clinical features:all of the 70 children had peripheral arthritis with or without enthesitis,and axial arthritis symptoms appeared in 24.3％ (17/70 cases) children,and 35.7％ (25/70 cases) children showed enthesitis.The onset of peripheral arthritis accounted for 87.1％ (61/70 cases),and all cases showed peripheral arthritis during the course of the disease,mostly the knees.Two cases were complicated with uveitis.Forty-seven cases (67.1％) were positive in Patrick test,and 9 cases(12.9％) had sacroiliac joint tenderness.The average Juvenile Arthritis Disease Activity Score with 27 joints (JADAS27) score was 20.12 ± 8.61.Twenty-seven cases (38.6％) had positive family history.Auxiliary examination:Erythrocyte sedimentation rate,C-reactive protein(CRP) and platelets increased in most children,and a few with leukocytosis increased slightly,nearly half of children with anemia mildly or moderately,and serum tumor necrosis factor-α(TNF-α),interleukin (IL)-6,IL-1β,IL-10 levels increased.Eighty-eight point six percent (31/35 cases) children had decreased bone mass;the positive rate of X-ray examination was 81.1％ (43/53 cases),including 5 cases of sacroiliac joint disease;the positive rate of uhrasonography was 81.5 ％ (44/54 cases);the positive rate of nuclear magnetic resonance (MRI) was 95.1％ (58/61 cases),including 30 cases (42.9％) of sacroiliitis.Treatment and outcome:Nonsteroidal antiinflammatory drugs (NSAIDs),disease modifying antirheumatic drugs (DMARDs),glucocorticoids,calcium and alfacalcidol were added,and 50.0％ (35/70 cases) patients had added TNF-α antagonist.The follow-up of all of the patients showed improvement in terms of clinical symptoms,laboratory tests and JADAS27 score after standard treatment.Conclusions It is difficult to diagnose but easy to misdiagnose because of the lack of specificity of ERA clinical symptoms.The improvement of imaging techniques,especially MRI,is helpful for the early diagnosis of ERA.To strengthen the understanding and management of ERA,and to grasp its clinical features,immunology and imaging features,help to make timely diagnosis and reasonable treatment,and to improve physical function and quality of life of patients,and to avoid or delay disability.
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Objective To analyze the clinical and laboratory characteristics,treatment,and outcomes of Ka-wasaki disease (KD)patients associated with macrophage activation syndrome (MAS)(KD - MAS)and to compare three diagnostic standards. Methods Twelve cases of KD - MAS were reviewed retrospectively,who had been treated and therapied at the Children′s Hospital of Chongqing Medical University from September 2007 to September 2017. The clinical data were analyzed. And,the efficacy of different MAS diagnostic criteria for KD - MAS was evaluated. Results The subjects included 8 males and 4 females,with a median age of 25 months. The capital trigger of MAS was infection(8 cases,66. 7％). Unabating high fever had been the initial manifestation for 12 patients(100％),other com-mon clinical features including hepatomegaly(11 cases,91. 6％),splenomegaly(8 cases,66. 7％)and lymphadenectasis (7 cases,58. 3％). Besides,8 patients (66. 7％)had different degrees of central nervous system symptoms. Laboratory examination showed a decrease in hemoglobin (11 cases,91. 6％),in thrombocytopenia (8 cases,66. 7％),and white blood cells (4 cases,33. 3％);while there was an increase were found in serum transaminase (11 cases,91. 6％), triglyceride(72. 7％,8 / 11 cases)and serum ferritin (100％,9 / 9 cases). Eleven patients (91. 6％)had decreased erythrocyte sedimentation rates (ESR). Bone marrow cytology was performed in 10 cases,and 8 cases of them showed hemophagocytic phenomenon. All the patients were diagnosed by SoJIA - MAS(2005)criteria. All patients were treated with high - dose intravenous immunoglobulin (IVIG)treatment,among whom 3 cases were combined with methylpred-nisolone treatment,and 2 cases received with more than 2 kinds of immunosuppressive drugs (Dexamethasone and Ciclosporin or Etoposide). Among the 12 patients,2 patients lost to follow - up,4 cases(33. 3％)died due to hepatic encephalopathy,including 2 cases who withdrawn treatment the remaining 6 cases (50. 0％)improved. Conclusions Prolonged high fever is the first manifestation of MAS in KD. Hemogram and ESR will decrease,elevated serum transaminase and ferritin may increase,which indicates MAS occurrence. If a high dose of IVIG therapy does not work,the combination of glucocorticoid and immunosuppressive for therapy may improve the remission rate. Severe cen-tral nervous system involvement may indicate a terrible prognosis. SoJIA - MAS (2005)can diagnose earliler by using preliminary diagnostic guidelines for macrophage activation system complicating systemic juvenile idiopathic arthritis.
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Objective To investigate the impacts of telestroke on use of intravenous thrombolysis and short-term outcomes in patients with acute ischemic stroke in a remote area.Methods Since March 2017,the Advanced Stroke Center of the Ninth People's Hospital,Shanghai Jiaotong University School of Medicine has used telestroke to guide intravenous thrombolysis for primary stroke center of Xiangyun County People 's Hospital in Dali,Yunnan.The rate of intravenous thrombolysis,door to needle (DTN) time,and the rate of good outcome (defined as the modified Rankin scale score at 3 months after onset) in patients treated with intravenous thrombolysis were compared before and after the implementation of telestroke.Multivariate logistic regression analysis was used to determine the independent risk factors for poor outcomes.Results The total rate of intravenous thrombolysis (7.99％ vs.2.88％;x2 =10.999,P=0.001) and the rate of intravenous thrombolysis in patients admitted within 3 h after onset (70.5％ vs.22.8％;x2 =22.930,P＜ 0.001) in patients with acute ischemic stroke 1 year after the implementation of telestroke were significantly higher than those before telestroke.The average DTN time of intravenous thrombolysis at 1 year after the implementation of telestroke was shorter than before,but it did not reach statistical siguificance (70.55 ± 28.52 min vs.79.00 ±33.46 min;t =0.852,P =0.399).One year after the implementation of telestroke,the good outcome rate in patients treated with intravenous thrombolysis was significantly higher than before (80.65％ vs.46.15％;x2 =4.234,P=0.022).Multivariate logistic regression analysis showed that using telestroke was independently associated with the good outcome in the patients treated with intravenous thrombolysis (odds ratio 0.040,95％ confident interval 0.004-0.396;P =0.006).Conclusion Telestroke can improve the rate of intravenous thrombolysis and improve short-term outcomes in patients with acute ischemic stroke in remote areas.
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Objective· To compare the impacts on clinical efficiency and safety between 0.014 inch Synchro microwire and Transend microwire used during mechanical thrombectomy for acute ischemic stroke (AIS) caused by large artery occlusion.Methods· Forty-six patients undergoing mechanical thrombectomy with stent retrievers between October 2012 and January 2016 were included,who were classified into Synchro group (21cases) and Transend group (25 cases).The clinical outcome,procedure time,and safety were analyzed and compared between two groups.Results· The recanalization rates were similar between two groups (P=0.600),but time from puncture to vascular recanalization of Synchro group was much shorter than that of Transend goup (48.88 min vs 82.33 min,P=0.001).The rates of functional independence (modified Rankin scale score ≤ 2) were similar between two groups (P=1.000).There was no significant difference of the rates of post-procedure subarachnoid hemorrhage (PSAH) between two groups (P=1.000).However,there were two cases that had fatal subarachnoid hemorrhage with intracranial hematoma in Transend group,while there was only one case of mild subarachnoid hemorrhage who recovered well in Synchro group.Conclusion· Compared with Transend microwire,Synchro microwire can significantly shorten the procedure time of mechanical thrombectomy,and the risk of fatal subarachnoid hemorrhage is rather small.
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Objective@#To investigate the clinical and immunological laboratory features and gene mutation in a female patient who carried a germline gain-of-function mutation in STAT3.@*Method@#A patient with lymphadenopathy and pancytopenia, visited the Department of Rheumatology and Immunology of Children′s Hospital of Chongqing Medical University in May 2016. The clinical and laboratory characteristics, results of immunophenotyping and exome sequencing were analyzed retrospectively and related literature was reviewed.@*Result@#The patient was a four years old girl. The clinical manifestation consisted of autoimmune pancytopenia, lymphadenopathy and recurrent infections. Multiple exams showed that peripheral blood leukocyte count was (2.2-4.9)×109/L, red blood cell count was (2.09-5.75)×109/L, hemoglobin level was 64-165 g/L, platelet count was (52-138) ×109/L. Percentages of lymphocyte subsets showed that CD3+ T lymphocyte was 0.716 0 (CD4+ T lymphocyte was 0.326 0, CD8+ T lymphocyte was 0.323 0 and CD4- CD8-T TCRαβ+ lymphocyte was 0.029 0), CD19+ B lymphocyte was 0.235 0 (transitional B was 0.004 3), NK was 0.032 0. Percentages of CD4+ T lymphocyte release IL-4, IFN-γ, IL-17 and IL-21 were 0.014 9, 0.213, 0.024 0 and 0.021 0, respectively. Lymphocyte proliferation function and TCRVβ diversity were normal. The serum immunoglobulin levels were 16.4 g/L (IgG), 1.53 g/L (IgA), 3.99 g/L (IgM) and 3.20 kU/L (IgE). The patient carried a missense variant in the 21st exon of STAT3, c. 1974G>C, p.K658N, which was previously described as a gain-of-function mutation. The patient was treated with methylprednisolone and prednisone intermittently. There were significant improvements of hepatosplenomegaly, lymphadenopathy and pancytopenia. We searched internal database and literature for cases with gain-of-function mutations in STAT3. A total of 19 cases were identified, all were non-Chinese. Among 16 cases who had clinical data, age of onset of 11 patients was less than 5 years. 14 cases had autoimmune hemolytic anemia, autoimmune thrombocytopenia or autoimmune neutropenia. Twelve patients had lymphadenopathy while 11 had infections and 5 had endocrine abnormalities.@*Conclusion@#The patient with Primary immunodeficiency disease (PID) due to gain-of-function mutation in STAT3 gene often has early-onset autoimmune disorders, lymphadenopathy and recurrent infections. Since the routine immunological examination may be normal or slightly abnormal, comprehensive evaluation of immune function should be done. Genetic testing ultimately helps to confirm the diagnosis.
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Objective@#To investigate the clinical and immunological laboratory features, mutations in SH2D1A gene and SAP protein expression in four children of two families with X-linked lymphoproliferative disease type 1(XLP-1).@*Method@#Four patients (Family A including Patient 1 and Patient 2, Family B including Patient 3 and Patient 4) and their maternal relatives were enrolled in this study. The clinical manifestation, EBV infection status and chest CT scan were analyzed. The absolute and relative numbers of lymphocyte subsets, T lymphocyte proliferative response, SAP protein expression were assessed by flow cytometry. Quantification of signal joint TCR rearrangementexcision circle (sjTRECs), CDR3 spectratyping of TCRvβ and gene mutation of SH2D1A were detected by PCR based on genomic DNA or cDNA.@*Result@#Four male patients from two families were diagnosed with XLP-1. The ages of disease onset were more than 1 year, more than 1 year, more than 1 month and 6 months. The ages at diagnosis were nine years and ten months, sixteen years and eight months, fourteen years and ten months, four years and nine months. All patients had recurrent infections and EBV infection. Patients 1, 2, and 3 had agammaglobulinemia and Patient 4 had hypogammaglobulinemia. Chest CT scan showed all patients had atelectasis and pneumonia, and Patient 3 had bronchiectasis. Patient 3 was diagnosised as Burkitt lymphoma. For immunological function, all patients exhibited reduced CD4/CD8 ratios, increased numbers of exhausted T lymphocyte, decreased number of NK cell. The numbers of total B lymphocyte and naïve B lymphocyte were normal, but the number of memory B lymphocyte declined in all cases. Four patients′ copy numbers of sjTRECs were low and CDR3 spectratypings of TCRvβ showed mildly skewed. But their T lymphocyte proliferative response was normal. SAP protein expression in four cases were measured by flow cytometry. Two patients from Family A were absent and two patients from Family B showed decreased values. SH2D1A gene sequence analysis showed that the patients of Family A harbored a nonsense mutation (c.163 C>T; p.R55X) in exon 2. Their mother and two sisters were carriers. A missense mutation of SH2D1A gene (c.278 G>A; p.G93D) in exon 3 was found in the patients of Family B. The mother was carrier. Four patients remain survived, Patient 3 gave up treatment, other three patients received IVIG therapy.@*Conclusion@#Four patients with XLP-1 from two families characterized by agammaglobulinemia have an extreme vulnerability to Epstein-Barr virus (EBV) infection. The functions of T cell, B cell and NK cell are impaired at different stages. The detection of SAP protein and SH2D1A gene are the key methods for diagnosis of XLP-1.
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Objective To establish an HPLC method to determine the related substances of metolazone and valsartan in com?pound metolazone tablets. Methods An Agilent Eclipse SB-C18 column (4.6 mm × 250 mm,5 μm) was used with 0.01 mol/L KH2PO4 buffer(pH=3.5)-acetonitrile as the mobile phase with gradient elution at a flow rate of 1.0 ml/min. The column temperature was 30℃ and the detection wavelength was 237 nm. Injection volume was 20 μl. Results Metolazone,valsartan and related sub?stance B of valsartan were separated completely. The calibration curves were linear within the range of 3-30μg/ml for metolazone, 0.1-2.0μg/ml for valsartan and 0.08-2.0μg/ml for related substane B of valsartan. The average recoveries were 102.97%,100.81%and 100.44%,respectively. The repeatability and intermediate precision met with requirements. The test solution was stable within 24 h. Conclusion The method is specific,sensitive,accurate and reliable,thereby can be used for the determination of metolazone and valsartan related substances in compound metolazone tablets.