OBJECTIVETo investigate clinical outcomes of tendon allograft reconstruction with arthroscopy minimally invasive technique at stage I for the treatment of knee dislocation with multiple ligaments injury.

METHODSForty-eight patients with knee dislocation were reconstructed anterior and posterior ligament under arthroscopy at stage I from January 2008 to January 2012, and repaired ligaments injury of knee joint by minimally invasive technique. There were 38 males and 10 females aged from 20 to 59 years old with an average of 35.6 years old; 22 cases on the left side and 26 cases on the right side; the time from injury to operation ranged from 2 d to 2 weeks. Two cases combined with anterior cruciate ligament (ACL), posterior cruciate ligament (PCL), medial collateral ligament (MCL) and posterolateral complex injuries, 36 cases combined with ACL, PCL, and MCL injuries, 10 cases combined with ACL, PCL and PLC injuries; 4 cases combined with peroneal nerve injury. Lysholm scoring were used to compared the cases before operation and final following-up to evaluate knee function.

RESULTSAll patients were followed up from 12 to 30 months with an average of (18.2 ± 6.3) months. Activity and stability of joint were obviously improved. Lysholm score were improved from 40.3 ± 4.1 before operation to 87.0 ± 6.4 at final following-up.

CONCLUSIONReconstruction with arthroscopy minimally invasive technique at stage I for the treatment of knee dislocation with multiple ligaments injury could recover stability of joint better,reserve joint function. Preoperative training and postoperative individualized rehabilitation treatment is the key point of recover knee joint function.

Adult ; Anterior Cruciate Ligament Injuries ; Arthroscopy ; Female ; Humans ; Knee Dislocation ; rehabilitation ; surgery ; Male ; Middle Aged ; Multiple Trauma ; surgery ; Posterior Cruciate Ligament ; injuries ; Reconstructive Surgical Procedures ; methods

OBJECTIVETo summarize the electroclinical characteristics of myoclonic atonic epilepsy (MAE) in children.

METHODThe clinical data, video electroencephalogram (EEG) and simultaneous electromyography (EMG) of MAE patients were analyzed. The treatment and its effects were followed up.

RESULTIn 47 MAE patients, 25 had a history of febrile seizures (FS), 20 had a family history of FS or epilepsy. All patients had a normal development before the illness. The age of afebrile seizure onset was between 1.4 years to 5.8 years. The first seizure was generalized tonic-clonic seizure (GTCS) in 41 patients (87.2%). All patients had multiple seizure types, including 47 GTCS (97.9%), 34 myoclonic atonic seizures (72.3%), 47 myoclonic seizures (100%), 32 atonic seizures (68.1%), 36 atypical absences (76.6%) and 3 tonic seizures (6.4%). EEG backgrounds were slow or parietal θ rhythm, interictal EEG showed 1-4 Hz (predominant 2-3 Hz) generalized spike and wave or poly spike and wave discharges in all cases. Seizures were controlled by antiepileptic drugs (AEDs) in 41 patients (87.2%). Valproate was used in 37. Lamotrigine was used in 26. Mild mental retardation was observed in 10 children after the onset of the illness.

CONCLUSIONThe clinical features of MAE included the following: the development was normal before the onset of the illness; the onset of seizure type was often GTCS. All patients had multiple generalized seizure types. Myoclonic atonic seizure was its characteristic seizure type. EEG showed generalized discharges. Early diagnosis and rational choice of AEDs are important for getting a better prognosis.

Child ; Child, Preschool ; Electroencephalography ; Epilepsies, Myoclonic ; diagnosis ; physiopathology ; therapy ; Epilepsy, Generalized ; diagnosis ; physiopathology ; therapy ; Female ; Humans ; Infant ; Male

OBJECTIVESevere myoclonic epilepsy of infancy (SMEI), or Dravet syndrome, is a severe epileptic encephalopathy. This study aimed to investigate the clinical features and genetic diagnosis of SMEI.

METHODSThe electroclinical data and the mutation of SCN1A gene in 13 children with SMEI were analyzed.

RESULTSOf the 13 children, 10 were males and 3 were females. Eight of them had family history of febrile seizures. The average age of seizure onset was 5.6 months, with a range of 2 to 9 months. The initial seizure was a febrile seizure in 9 patients (69%). Generalized or hemiclonic seizures were often triggered by fever. Eight patients had a history of febrile status. Afebrile seizures occurred from 2 months to 21 months of age. All patients went on to develop multiple seizure types. Generalized tonic clonus seizures (GTCS) were found in 11, partial seizures in 12, atypical absence in 10. Myoclonic seizures were presented in all patients. Twelve patients had 3 or more seizure types. Seizures of all patients had a characteristic of temperature sensitivity. The precipitating factors included fever, hot bath and vaccination. Nine patients (69%) had a history of status epilepticus. Delay in mental development was present in 11 cases, ataxia in 5 and pyramidal sign in 2. EEG was normal in most patients in the first year of life, followed by generalized, focal and multifocal discharges. Brain MRI was abnormal in 2 cases. Seizures were not completely controlled in all patients. Carbamazepine and lamotrigine aggravated seizures in some patients. SCN1A gene mutation was found in 10 cases, including seven missense mutations, two nonsense mutations and one frame shift mutation.

CONCLUSIONThe clinical features of SMEI were seizure onset within one year of age, first event is often a febrile seizure; multiple seizure types and mental delay occurred after the second year of life; seizures have a characteristic of temperature sensitivity; EEG was normal in the first year of life, followed by generalized, focal or multifocal discharges; early diagnosis by testing SCN1A mutation guides selection of antiepileptic drugs.

Child, Preschool ; DNA Mutational Analysis ; Electroencephalography ; Epilepsies, Myoclonic ; diagnosis ; genetics ; Female ; Genetic Testing ; Humans ; Infant ; Male ; Mutation ; NAV1.1 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins ; genetics ; Sodium Channels ; genetics

OBJECTIVETo investigate the clinical, neurophysiologic characteristics and therapeutic considerations of epileptic negative myoclonus (ENM) in atypical benign partial epilepsy of childhood (ABPE).

METHODSVideo-EEG monitoring with outstretched arm tests were carried out in 17 patients, and 9 of them were examined with simultaneous electromyography (EMG). The ENM manifestations, electrophysiologic features and responses to antiepileptic drugs (AED) were analyzed.

RESULTSSeventeen patients were diagnosed as having benign childhood epilepsy with centrotemporal spikes (BECT) during the early course of the disease and were treated with AED. During the course of the disease, hand trembling, objects dropping, head nodding and instability during standing might be clues for ENM occurrence. ENM had been confirmed in our patients by outstretched arm tests during video-EEG recording. The ictal EEG showed that high-amplitude spikes followed by a slow wave over the contralateral motor areas. This was further confirmed by time-locked silent EMG in 9 patients. During ENM occurrence or recurrence, the habitual seizures and interictal discharges were exaggerated. Atypical absence seizures also occurred in 6 patients. The alteration of therapeutic options of AED relating to ENM appearance in some patients included the add-on therapy with carbamazepine (CBZ), oxcarbazepine, phenobarbital, or withdrawal of valproate (VPA). ENM was controlled in most cases by using VPA, clonazepam (CZP) and corticosteroid with different combination.

CONCLUSIONENM could occur during the course of ABPE. Outstretching arm tests during video-EEG monitoring in combination with EMG was essential to confirm ENM. The ENM occurrence was always associated with the frequency increasing of habitual seizures and the aggravation of interictal discharges. Some AED such as CBZ might induce ENM. VPA, benzodiazepines and corticosteroid with different combination were relatively effective in treatment of ENM.

Anticonvulsants ; therapeutic use ; Child ; Child, Preschool ; Electroencephalography ; Electromyography ; Epilepsies, Myoclonic ; drug therapy ; physiopathology ; Epilepsies, Partial ; drug therapy ; physiopathology ; Female ; Humans ; Male

This study investigated the relationship between IL-33/ST2 signal pathway gene polymorphisms and myocardial infarction (MI) in Han Chinese. A case-control association analysis was performed on a total of 490 MI patients (MI group) and 929 normal subjects (NC group). Sequenom Mass Array and Taqman genotyping technique were used to analyze the tag single nucleotide polymorphisms (SNPs) in the genes encoding IL-33, ST2, and IL-1RaP (rs11792633, rs1041973 and rs4624606). The results showed that the frequencies of rs4624606 genotypes AA, TT, AT were 0.031, 0.647, 0.322 in MI group and 0.026, 0.712, 0.263 in NC group, and the allele frequencies of A and T were 0.192, 0.808 in MI group and 0.157, 0.843 in NC group. There were significant differences in rs4624606 genotypes and allele frequencies between MI group and NC group (P<0.05). For rs11792633, the allele frequencies of C and T were 0.45, 0.55 in MI group and 0.454, 0.546 in NC group with no significant differences found between the two groups. Compared with genotype CC+TC, rs11792633 genotype TT had an increased risk of hypertension (P<0.05). However, there were no significant differences in the frequencies of rs11792633 genotypes between the two groups. No significant differences were noted in the frequencies of rs1041973 genotype and allele between the two groups. Logistic regression analysis showed that rs4624606 genotypes AT and AA+AT were both significantly associated with MI (AT: OR=1.325, P=0.029, 95% CI=1.03-1.705; AA+AT: OR=1.316, P=0.028, 95% CI=1.03-1.681) after factors such as age, gender, smoking, drinking, body mass index (BMI), triglyceride (TG) and cholesterol were adjusted. Those carrying rs4624606 genotype AT or AA+AT had an increased risk of MI. No associations were found between the polymorphisms of the other two loci with MI. It was concluded that, in the IL33/ST2 signal pathway, the A allele of rs4624606 polymorphism of IL-1RaP gene is a potential independent risk factor for MI, and the genotypes AA+AT and AT are associated with the incidence of MI.
China ; Ethnic Groups ; genetics ; Female ; Humans ; Interleukin-1 Receptor-Like 1 Protein ; Interleukin-33 ; Interleukins ; genetics ; metabolism ; Male ; Myocardial Infarction ; genetics ; Receptors, Cell Surface ; genetics ; metabolism ; Signal Transduction ; genetics

OBJECTIVETo investigate the impact of cement distribution index on the occurrence of refracture in the adjacent segments after percutaneous vertebroplasty.

METHODSThis retrospective analysis was conducted among 143 patients who received percutaneous vertebroplasty for osteoporotic vertebral compression fracture between April, 2011 and April, 2014. Of the 134 patients with complete follow-up data, 18 had adjacent segment fracture within 1 year following the surgeries (re-fracture group), and 116 patients without new fracture served as the control group. All the patients underwent X-ray examinations after the surgery and according to the position and shape, the cement in the vertebrae were classified into 5 types (I to V), and the volume-cubage index was computed based on the cement volume and vertebral cubage. Age, gender, bone mineral density (BMD), cement distribution index, volume-cubage index, and cement leakage were evaluated in the 2 groups, and the variables with significant differences between the 2 groups were analyzed in Logistic regression analysis.

RESULTSBMD was significantly lower and the rate of cement leakage was significantly higher in the re-fracture group than in the control group (P<0.05). Significant difference was found in cement distribution index between the 2 groups (P<0.05) but not in age, gender, cement volume or volume-cubage index (P>0.05). Logistic regression analysis indicated that BMD, cement leakage and cement distribution index all significantly affected the occurrence of adjacent vertebral fractures following percutaneous vertebroplasty.

CONCLUSIONA low BMD, cement leakage and a low cement distribution index are all risks factor of adjacent vertebral fracture after percutaneous vertebroplasty.

Objective:Expression of Ki-67 and p53 in triple-negative breast cancer(TBNC) and its clinical value.Methods:We selected 107 patients with breast cancer from February 2008 to December 2015 were selected as the study subjects,the expression of ER,PR and c-erbB-2 was negative in TNBC group (n=67),and one of them was NTNBC (n=40).To compare the positive rates of Ki-67 and P53 expression in TBNC and NTBNC groups.To analyze the relationship between the positive rate of Ki-67 and P53 expression in TBNC group and clinicopathological features.To analyze the correlation between Ki-67 and P53 expression in TBNC group.Results:The positive rate of Ki-67 expression in TNBC group(71.64％) was higher than that in NTNBC group(27.50％).The positive rate of P53 expression in TNBC group (65.67％) was higher than that in NTNBC group(32.50％),The difference was statistically significant (P＜0.05);The positive rate of Ki-67 and P53 expression in TNM stage Ⅲ +Ⅳ patients was higher than that in patients without lymph node metastasis and stage Ⅰ + Ⅱ,the difference was statistically significant (P＜0.05).The expression of Ki-67 was positively correlated with P53 expression by Spearman rank correlation analysis(rs=0.312,P=0.010).Conclusions:The expression of Ki-67 and P53 in TBNC patients was higher than that in NTNBC patients,and correlated with lymph node metastasis and TNM staging,which could be used as a clinical index to evaluate the occurrence and development of subtype breast cancer.

Objective To investigate the effect of glycemic control on progress of left ventricular structure and diastolic dysfunction in adolescents with type 1 diabetes mellitus (T1 DM).Methods A total of 36 T1DM adolescent patients(observation group) and 36 age-matched healthy controls (healthy control group),who consulted doctors in Chengdu Women and Children's Central Hospital between Dec.2009 and Dec.2010,were recruited into the study.Patients in the observation group were performed standard treatment for glycemic control.All patients were followed-up for 2 years.At the end of the study,the patients in observation group were divided into 3 subgroups according to the average HbA1 c level:excellent glycemic control group [glycosylated hemoglobin (HbA1 c) ＜ 7.6％],good glycemic control group(7.6％ ≤HbA1c≤9.0％) and bad glycemic control group(HbA1c ＞9.0％).All of the subjects were evaluated by means of echocardiography for assessment of left ventricular structural and functional parameters.Results Left ventricular posterior wall depth (LVPW),left ventricular mass index (LVMI) and isovolumic relaxation time (IVRT) were elevated,while E/A was decreased in the observation group compared with the healthy control group at baseline (all P ＜ 0.05).There was no significant difference between 2 groups in interventricular septum thickness (IVS),left ventricular end-diastolic dimension(LVEDd) and cardiac systolic function(all P ＞ 0.05).Echocardiographic parameters of left ventricular structure and function were unchanged in well-controlled patients.At the end of follow-up,mild-control group and non-control group demonstrated increased IVS,LVPW and LVMI,and exacerbated left ventricular diastolic function in the present of IVRT prolonging and E/A decreasing.Conclusions There is an inclination in T1 DM adolescent patients developing to left ventricular diastolic dysfunction,and improved glycemic control can delay the progress of left ventricnlar hypertrophy,but it can't ameliorate the decreased diastolic dysfunction.Whereas,non-improved glycemic control can accelerate left ventricular remodeling and exacerbate diastolic dysfunction in T1DM adolescent patients.

OBJECTIVETo evaluate the overall efficacy and transplant-related mortality (TRM) of related and unrelated allogeneic peripheral blood hematopoietic stem cell transplantation (allo-PBSCT) in chronic myeloid leukemia (CML) patients conditioned with fludarabine-busulfan (FB) reduced intensity regimen.

METHODSForty-four patients received FB (Flud 30 mgxm(-2)xd(-1) x 5 d, BU 4 mgxkg(-1)xd(-1) x 3 d) conditioning followed by allo-PBSCT. Of them, 29 patients were transplanted with related donor and 15 unrelated donor (URD). All patients received mycophenolate mofetil (MMF), CsA and MTX for acute GVHD (aGVHD) prophylaxis. 5 mg/kg rabbit-antithymocyte globulin (ATG-Fresenius) was incorporated in 15 URD recipients.

RESULTSAll patients were successfully engrafted. The median times to ANC above 0.5 x 10(9)/L in related (RG) and unrelated groups (URG) were 13.7 (9 - 18) d and 13.6 (12 - 17) d, and PLT above 20 x 10(9)/L were 15.3 (9 - 20) d and 14.7 (10 - 26) d, respectively. Two patients in RG. 1 in URG developed graft rejection 5 - 8 months after transplantation. One of the two patients in RG received second transplantation and engrafted. The cumulative incidence of aGVHD and cGVHD were 13.8% (4/29) and 46.4% (13/28) in RG, and were 33.3% (5/15) and 57.1% (8/14) in URG respectively. Two patients in RG relapsed after transplantation, and obtained CR again after donor stem cell infusion (DSI). Median time of follow-up was 34.7 (2 - 73) months. Thirty-four patients were alive and 10 died. The main causes of death were IP, GVHD, graft rejection and infection. The 5-year overall survival (OS) probability was 77.0%, and the disease-free-survival (DFS) was 73.9%, of which, 79.0% and 74.1% were in RG, and 73.3% and 73.3% in URG, respectively.

CONCLUSIONSFludarabine-busulfan based reduced intensity conditioning for allo-PBSCT with either related or unrelated donors is a safe, less toxic and curative approach to CML.

Graft vs Host Disease ; prevention & control ; Hematopoietic Stem Cell Transplantation ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Peripheral Blood Stem Cell Transplantation ; Transplantation Conditioning

BACKGROUNDTakayasu arteritis (TA) is a rare inflammatory arteriopathy of unknown etiology. The aim of this study was to investigate the genetic susceptibility to TA in a Chinese population.

METHODSFour single nucleotide polymorphisms (SNPs) those locate in the IL12B region (rs56167332), the MLX region (rs665268), the FCGR2A/FCGR3A locus (rs10919543), and the HLA-B/MICA locus (rs12524487), associated with TA in different population, were genotyped in 123 Chinese TA patients and 147 healthy controls from January 2013 to August 2014. A Chi-square test was used to test for genotype/allele frequencies variants.

RESULTSAmong the four SNPs, rs10919543 was found to be significantly associated with TA in the studied population. The GG genotype of rs10919543 at the FCGR2A/FCGR3A locus is a high risk factor (odds ratio [OR] = 6.532, 95% confidence interval [CI] = 2.402 - 17.763, P < 0.001) for TA. Among TA patients, the level of eosinophil granulocytes (Eos) in the peripheral blood was observed to be higher in the GG group of rs10919543 (n = 23, Eos = 0.11 [0.08, 0.17] ×109/L) than the GA + AA group (n = 100, Eos = 0.08 [0.05, 0.13] ×109/L, P = 0.028). No correlation between the genotypes of the other three SNPs and TA patients was observed.

CONCLUSIONSOur findings revealed unique genetic pattern in Chinese TA patients that may be partly responsible for the higher risk of TA in this population. FCGR2A/FCGR3A-related immune disorder might contribute to the etiology of TA.

Adolescent ; Adult ; Child ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Receptors, IgG ; genetics ; Takayasu Arteritis ; etiology ; genetics