Objective: To report the clinical manifestations and laboratory features of five patients with congenital thrombotic thrombocytopenic purpura (cTTP) and explore its standardized clinical diagnosis and treatment along with a review of literature. Methods: Clinical data of patients, such as age of onset, disease manifestation, personal history, family history, and misdiagnosed disease, were collected. Treatment outcomes, therapeutic effects of plasma infusion, and organ function evaluation were observed. The relationship among the clinical manifestations, treatment outcomes, and ADAMTS13 gene mutation of patients with cTTP was analyzed. Additionally, detection of ADAMTS13 activity and analysis of ADAMTS13 gene mutation were explored. Results: The age of onset of cTTP was either in childhood or adulthood except in one case, which was at the age of 1. The primary manifestations were obvious thrombocytopenia, anemia, and different degrees of nervous system involvement. Most of the patients were initially suspected of having immune thrombocytopenia. Acute cTTP was induced by pregnancy and infection in two and one case, respectively. ADAMTS13 gene mutation was detected in all cases, and there was an inherent relationship between the mutation site, clinical manifestations, and degree of organ injury. Therapeutic or prophylactic plasma transfusion was effective for treating cTTP. Conclusions: The clinical manifestations of cTTP vary among individuals, resulting in frequent misdiagnosis that delays treatment. ADAMTS13 activity detection in plasma and ADAMTS13 gene mutation analysis are important bases to diagnose cTTP. Prophylactic plasma transfusion is vital to prevent the onset of the disease.
Female ; Pregnancy ; Humans ; Adult ; Blood Component Transfusion ; Plasma ; Purpura, Thrombotic Thrombocytopenic/therapy* ; Mutation ; Purpura, Thrombocytopenic, Idiopathic ; ADAMTS13 Protein/therapeutic use*

OBJECTIVE: To explore the treatment strategy and clinical efficacy for os odontoideum complicated with atlantoaxial dislocation. METHODS: The clinical data of 17 patients with os odontoideum complicated with atlantoaxial dislocation surgically treated from January 2006 to January 2015 were retrospectively analyzed, including 7 males and 10 females, aged 17 to 53 (43.1±11.3) years old;course of disease was 3 to 27(10.2±6.9) months. All patients received cranial traction before operation, 12 of 14 patients with reducible dislocation were treated by posterior atlantoaxial fixation and fusion, and 2 patients with atlantooccipital deformity were treated by posterior occipitocervical fixation and fusion;3 patients with irreducible alantoaxial dislocation were treated by transoral approach decompression combined with posterior atlantoaxial fixation and fusion. The operation time, intraoperative blood loss and perioperative complications were recorded. Visual analogue scale (VAS) and Japanese Orthopaedic Association (JOA) score were used to evaluate the change of neck pain and neurological function. Atlantoaxial joint fusion rate was evaluated by CT scan. RESULTS: The operation time of posterior fixation and fusion ranged from 86 to 170 (92.2±27.5) min, and the intraoperative blood loss was 200-350 (250.7±65.2) ml. No vertebral artery injury and spinal cord injury were recorded. Among the patients underwent atlantoaxial fixation and fusion, 1 patient with reducible dislocation fixed by C CONCLUSION Surgical treatment of os odontoideum complicated with atlantoaxial dislocation can achieve satisfactory results, improve the patient's neurological function and improve the quality of life, however the surgical options needs to be individualized.
Adolescent ; Adult ; Atlanto-Axial Joint/surgery* ; Axis, Cervical Vertebra ; Female ; Humans ; Joint Dislocations/surgery* ; Male ; Middle Aged ; Quality of Life ; Retrospective Studies ; Spinal Fusion ; Treatment Outcome ; Young Adult

Objective: To evaluate the effects of adeno-associated virus (AAV) carrying hFⅧ by serotype 8 (AAV8/hFⅧ) on hemophilia A (HA) mice by gene therapy strategy. Methods: pAAV-CB-EGFP, pH22 (serotype 2) and pfΔ6 (adenovirus helper) were used to package AAV into HEK-293 cells in different conditions (ratios of cells to plasmids). The efficiency of transfection and infection were evaluated using immunofluorescence microscope to seek an optimized package condition. pAAV-TTR-hFⅧ, pH 28 (serotype 8) and pfΔ6 were applied to package AAV8/hFⅧ in HEK-293 cells using the optimized package condition. The purified AAV8/hFⅧ were intravenously injected into HA mice and the effects of gene therapy were estimated. Results: The efficiency of package was evaluated according to the amount and intensity of enhanced green fluorescent protein (EGFP) under immunofluorescence microscope. Four package conditions including 10 cm-dish to transfect 10 μg plasmids, 20 cm-dish to 20 μg, 30 μg and 40 μg plasmids were employed, and the condition of 20 cm-dish to transfect 20 μg plasmids reached the highest transfection efficiency at 24 h, 48 h and 72 h after transfection. The small scale AAV-EGFP was packaged using the optimized condition and an AAV crude extract was harvested by a freeze-thaw method. HEK-293 and 16095 cells were infected by the AAV crude extract, and the preferential infection efficiency was recognized in 16095 cells under immunofluorescence microscope. Then, AAV8/hFⅧ was packaged and purified based on the optimized transfection condition, and the high purity of AAV8/hFⅧ was detected by Western blot. Fractions of AAV8/hFⅧ at the dose of 8×10(12) vg/kg were injected into HA mice through tail vein, an eye-bleeding was performed at every two weeks, and the activity of FⅧ was measured by aPTT assay. Results showed that the activity of FⅧ maintained at the therapeutic level and lasted up to 12 weeks after injection. Conclusion: The purified AAV8/hFⅧ based on the optimized package condition could play a role in HA mice gene therapy, and the long-term therapeutic effects of AAV8/hFⅧ were observed in vivo.
Animals ; Dependovirus ; Genetic Therapy ; Genetic Vectors ; HEK293 Cells ; Hemophilia A ; Humans ; Mice

Andrographis Herba is a commonly used plant medicine, and has been recorded in pharmacopeias of different countries. However, there are some differences in the quality standards. Based on this, this paper compare the quality standards of Andrographis Herba between Chinese Pharmacopoeia, Hong Kong Chinese Materia Medica Standards, United States Pharmacopoeia, European Pharmacopoeia and Indian Pharmacopoeia, including origin, botanical characteristics, identification(microscopic identification and chromatographic identification), content determination, specific test(such as impurities, loss on drying, extractives, pesticides, heavy metals, mycotoxins, and other items) and storage requirements, so as to provide a reference for studying international quality standards of Andrographis.
Andrographis ; Drugs, Chinese Herbal ; Materia Medica ; Reference Standards

OBJECTIVE: To assess the curative effects of injured vertebra pedicle fixation combined with vertebroplasty and short-segment pedicle screw fixation combined with vertebroplasty in treatment of osteoporotic thoracolumbar burst fractures. METHODS: Seventy patients with osteoporotic thoracolumbar burst fractures who met the inclusion criteria were collected in the study from January 2015 to December 2017. Among them, 35 patients were treated with injured vertebra pedicle fixation combined with vertebroplasty (group A), including 20 males and 15 females, aged from 55 to 74 years with an average of (64.03± 7.82) years. Twenty-six cases were type A3 and 9 cases were type A4 according to the AO typing;another 35 patients were treated with short segment pedicle screw fixation combined with vertebroplasty (group B), including 18 males and 17 females, aged from 54 to 72 years with an average of (62.78±6.40) years. Twenty-eight cases were type A3 and 7 cases were type A4 according to AO typing. Operation length, intraoperative bleeding volume, complication, imaging parameters and clinical effects were compared between the two groups. RESULTS: All the patients were followed up for at least 12 months. There were no significant differences in gender, age, injury site, preoperative VAS, Cobb angle, and injured vertebral height before surgery. There were no significant differences in operation length, intraoperative bleeding volume between two groups. In terms of VAS scores before surgery, 1 week after surgery, and at the final follow up, group A was 5.5 ±2.5, 1.8 ±0.8, 0.9 ±0.4, group B was 5.4 ± 2.3, 1.7±0.6, 1.2±1.8, respectively;injured vertebral height was (40.4±8.8)%, (92.0±4.9)%, (87.1±3.8)% in group A, and (41.2±6.6)%, (93.2±4.6)%, (80.0±4.3)% in group B;Cobb angle was (18.4±6.9) °, (2.8±2.2) °, (4.2±2.6) ° in group A, and (16.8±7.2) °, (2.7±2.5) °, (6.0±2.4) ° in group B. There were significant differences in the 3 parameters above before the operation and at the final follow up in all groups (<0.05). There were significant differences in the Cobb angle and injured vertebral height between 1 week after operation and at the final follow up (<0.05). At the final follow up, injured vertebral height in group A was obviously better than that in group B (<0.05). Internal fixation failure occurred in 2 cases from the group A, and occurred in 4 cases from the group B. There were no neurological complications in both groups. CONCLUSION For osteoporotic thoracolumbar vertebral burst fractures, injured vertebra pedicle fixation combined with vertebroplasty and vertebra pedicle screw fixation combined with vertebroplasty can achieve good clinical effects. However, injured vertebra pedicle fixation combined with vertebroplasty is better at maintaining postoperative vertebral height and sagittal arrangement, and reducing internal fixation related complications. The treatment strategy is worthy of application and promotion.
Aged ; Female ; Fracture Fixation, Internal ; Humans ; Lumbar Vertebrae ; Male ; Middle Aged ; Pedicle Screws ; Spinal Fractures ; Thoracic Vertebrae ; Treatment Outcome ; Vertebroplasty

OBJECTIVE: To establish 293T cell lines stably expressing Calpain-cleavage related α3 cytoplasmic tail mutants, and to explore the effect of amino acid motifs in integrin β3 cytoplasmic tail on αⅡbβ3-mediated cell function. METHODS: 293T cell lines stably co-expressing human wild type integrin αⅡb and full length β3 or mutant β3, including β3-ΔNITY (β3 cytoplasmic tail NITY motif deleted), β3-Δ754 (β3 cytoplasmic tail TNITYRGT motif deleted) and β3-Δ759 (β3 cytoplasmic tail RGT motif deleted) were established. Spreading and adhesion of these stable cell lines on immobilized fibrinogen were tested. RESULTS: 293T-αⅡbβ3ΔNITY, 293T-αⅡbβ3Δ754, 293T-αⅡbβ3Δ759 and 293T-αⅡbβ3 cell lines were successfully established. Compared with the 293T cells, 293T-αⅡbβ3 cells which expressed full β3, possessed well adhesion and spread ability on immobilized fibrinogen, suggesting it can be as a surrogate for platelet. Compared with 293T-αⅡbβ3 cells, the 293T-αⅡbβ3ΔNITY cells showed a partial impairment of adhesion and spreadability on immobilized fibrinogen. while the 293T-αⅡbβ3Δ754 cells and 293T-αⅡbβ3Δ759 cells failed to adhere or spread on immobilized fibrinogen. CONCLUSION To the cell spreading function mediated by integrin β3, RGT motif is vital, while NITY can be dispensable. These established 293T cell lines stably expressing different β3 mutants provide a solid basis for a further analysis of mass spectrometry.
Amino Acid Motifs ; Animals ; CHO Cells ; Cell Adhesion ; Cricetinae ; Cricetulus ; HEK293 Cells ; Humans ; Integrin beta3 ; genetics ; metabolism ; Platelet Glycoprotein GPIIb-IIIa Complex ; genetics ; metabolism ; Signal Transduction

OBJECTIVETo compare the curative effect of short-segment pedicle screw fixation combined with vertebroplasty and injured vertebra pedicle fixation in treating osteoporotic thoracolumbar burst fractures.

METHODSA retrospective study was performed for 52 patients with thoracolumbar burst fractures from August 2010 to August 2015. Among them, 27 patients(group A) were treated with short-segment pedicle screw fixation combined with vertebroplasty, including 17 males and 10 females, aged from 54 to 68 years old with an average of(61.01±5.41) years, 16 cases were type A3 and 11 cases were type A4 according the new AO typing. Other 25 patients (group B) were treated with short-segment pedicle screw fixation combined with injured vertebra pedicle fixation, including 12 males and 13 females, aged from 55 to 66 years old with an average of (59.28±6.12) years, 18 cases were type A3 and 7 cases were type A4 according the new AO typing. Operation time, intraoperative bleeding volume, complication, image data and clinical effect were compared between two groups.

RESULTSAll the patients were followed up for 12 to 15 months with an average of (12.4±2.1)months. There was no significant difference in general data(including gender, age, injured site, preoperative VAS score, Cobb angle, injured vertebral anterior border height) between two groups. There was no significant differences in operation time, intraoperative bleeding volume between two groups. Preoperative, one week after operation and final follow-up, VAS scores were 5.2±0.5, 1.2±0.2, 0.8±0.1 respectively in group A and 5.0±0.6, 2.5±0.4, 1.3±0.2 in group B; injured vertebral anterior border height were (49.4±6.8)%, ( 94.5±1.2)%, ( 94.1±3.7)% respectively in group A and (48.2±7.0)%, ( 94.3±4.1)%, ( 90.0±2.3)% in group B;Cobb angles were (20.4±5.2) °, (2.5±1.8) °, (4.4±1.7)° respectively in group A and (19.8±6.8)°, (2.4±1.7)°, (7.0±1.2)° in group B. At final follow-up, VAS, Cobb angle, injured vertebral anterior border height in two groups were obviously improved(<0.05). Postoperative at 1 week and final follow-up, VAS score of group A was lower than that of group B(<0.05);and there was no significant difference in Cobb angle between two groups(>0.05); there was significant difference in injured vertebral anterior border height between two groups(<0.05). The complication of internal fixation failure had 1 case in group A and 4 cases in group B.

CONCLUSIONSFor the treatment of single osteoporotic thoracolumbar burst fractures, short-segment pedicle screw fixation combined with vertebroplasty is better than combined with injured vertebra pedicle fixation in clinical effect, it can relieve pain, maintain injured vertebral height and sagittal alinement, reduce the complications associated with internal fixation, and be worth spread in clinic.

BACKGROUND: The majority of children with β-thalassemia major have iron overload, and iron overload may have negative effects on hematopoietic stem cell transplantation. OBJECTIVE: To assess the effects of liver and cardiac iron overload detected by magnetic resonance imaging (MRI) T2* on HLA-identical allogeneic hematopoietic stem cell transplantation in children with β-thalassemia major. METHODS: Eighty-one children with β-thalassemia major who were over 3 years of age and could cooperate with MRI detection were subjected to liver and heart MRI T2* tests before or after HLA-identical allogeneic hematopoietic stem cell transplantation. According to the test results, we calculated the liver and cardiac iron content, defined as an indicator of liver and heart iron overload. Then, there was a correlation analysis between the liver and cardiac iron content and serum ferritin, time of hematopoietic reconstitution, mortality rate, implantation rate and the morbidity of transplantation related complications, such as graft-versus-host disease, infections, autoimmune hemolysis, pancytopenia, hepatic veno-occlusive disease, septicemia. RESULTS AND CONCLUSION: The liver iron content was positively correlated with the time of hemoglobin implantation (r=0.229, P=0.043), and the cardiac iron content were positively correlated with the mortality rate (r=0.266, P=0.017); the serum ferritin level was negatively correlated with the implantation rate (r=-0.289, P=0.009), and positively correlated with the morbidity of septicemia (r=0.251, P=0.024) and pancytopenia (r=0.276, P=0.013). Therefore, iron overload exerts negative effects on HLA-identical allogeneic hematopoietic stem cell transplantation in β-thalassemia major children, and it is necessary to detect serum ferritin level and assess liver and cardiac iron overload before cell transplantation.

OBJECTIVETo observe the effect of Xinfeng Capsule (XFC) on ankylosing spondylitis (AS) patients' symptoms and signs, serum immunoglobulin levels, peripheral blood lymphocyte autophagy protein, autophagy gene, and to explore its mechanism.

METHODSTotally 59 AS patients were assigned to the treatment group (39 cases) and the control group (20 cases) according to random digit table. Patients in the treatment group received XFC, 0.5 g each pill, three pills each time, 3 times per day, while those in the control group received sulfasalazine (SASP), 0.25 g per tablet, 4 tablets each time, twice per day. Three months consisted of one therapeutic course. Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) were statistically calculated. Serum immunoglobulins (IgG1, IgG2, IgG3, IgG4, IgA , SIgA, and IgM) were detected using ELISA. Changes of Beclin1, LC3-II, phosphatidylinositol 3-kinase (PI3K), Akt, the mammalian target of rapamycin (mTOR) were detected using Western blot. Serum autophagy related genes such as Atg1, Atg5, Atg12, Atg13, and Atg17 were detected using the polymerase chain reaction (PCR). The correlation between immunoglobulin subtypes and autophagy gene in AS patients using Spearman correlation.

RESULTSCompared with before treatment, BASDAI, IgG1, lgG3, and IgA decreased (P < 0.01); PI3K, Akt, and mTOR protein expressions decreased (P < 0.01); ATG1, ATG12, ATG13, and ATG17 mRNA expressions decreased, ATG5 mRNA expression increased (P < 0.01) in the treatment group. But BASDAI, IgG1, and IgA levels decreased (P < 0.05, P < 0.01); PI3K, Akt, and mTOR protein expressions decreased (P < 0.05); ATG1 and ATG13 mRNA expressions decreased (P < 0.05, P < 0.01) in the control group. Compared with the control group, BASDAI, IgG1, and IgA levels decreased (P < 0.05); PI3K, Akt, mTOR protein expressions decreased (P < 0.01); ATG12 and ATG17 mRNA expression decreased, ATG5 mRNA expression increased (P < 0.01) in the XFC group. Correlation analysis showed AS patients' IgG1, IgG2, IgG3, IgA, SIgA, IgM had negative correlation with ATG17; IgG4 and ATG17 were positively correlated (P < 0.05, P < 0.01).

CONCLUSIONXFC could elevate clinical efficacy of AS patients and enhance their autophagy, which might be achieved by acting on PI3K/Akt/mTOR signal, affecting autophagy gene and autophagy protein expression, taking part in the regulation of proliferation and differentiation of lymphocyte B, and strengthen humoral immunity.

Apoptosis Regulatory Proteins ; metabolism ; Autophagy ; drug effects ; Beclin-1 ; Capsules ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Immunoglobulin A ; blood ; Immunoglobulin G ; blood ; Immunoglobulin M ; blood ; Lymphocytes ; drug effects ; Membrane Proteins ; metabolism ; Phosphatidylinositol 3-Kinases ; metabolism ; Spondylitis, Ankylosing ; drug therapy ; Sulfasalazine ; therapeutic use ; TOR Serine-Threonine Kinases ; metabolism

OBJECTIVETo investigate the prevalence, current treatment, and clinical characteristics of asthma, as well as the risk factors for this disease, among children aged 0-14 years in 2010 in urban Zhongshan, China.

METHODSA total of 10 336 children aged 0-14 years were selected from urban Zhongshan by cluster random sampling. The Third National Childhood Asthma Epidemiological Questionnaire 2010 was used to analyze the prevalence, current treatment, and clinical characteristics of childhood asthma, as well as the risk factors for this disease.

RESULTSAsthma was diagnosed in 179 cases (1.73%). The prevalence of asthma in male children was significantly higher than that in female children (2.25% vs 1.16%; P<0.01). Of the 179 patients, severe attacks were common in 104 cases (58.1%), 110 cases (61.5%) had slow onset, 102 cases (57.0%) had gradually relieved conditions, 61 cases (34.1%) suffered from asthma during seasonal transition, and 150 cases (83.8%) developed asthma due to respiratory tract infection. Among all asthmatic children, 71.5% had been treated with inhaled corticosteroids, and 71.5% had been treated with bronchodilator. The multivariate logistic regression analysis showed that a history of penicillin allergy, a family history of allergy, food allergy, eczema, allergic rhinitis, cesarean delivery, family mould, and perinatal passive smoking were independent risk factors for childhood asthma.

CONCLUSIONSThe prevalence of childhood asthma in urban Zhongshan is on a high level, and is associated with gender. The treatment of asthma has been standardized, but still needs further improvement. The onset of asthma attack is influenced by various factors.

Adolescent ; Asthma ; epidemiology ; etiology ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Risk Factors ; Seasons ; Time Factors