Objective To explore the diagnosis of tuberous sclerosis (TSC) combined with Langerhans cell histiocytosis (LCH) and secondary hemophagocytic lymphohistocytosis (HLH).Methods One case diagnosed of TSC combined wiht LCH and secondary with HLH in infancy was retrospectively analyzed.Results One year and 4-month-old Uyghur boy when he was 4-month-old,there was onset of infantile spasm.Gene detection was performed when he was one year old and showed the absence of the exon 3 to 10 ofTSC2 gene.The diagnosis of TSC was confirmed.Meanwhile,the boy also suffered with skin rash all around,fever,hepatosplenomegaly,and bone defect.The diagnosis of LCH was confirmed by skin biopsy.In addition,the boy was complicated HLH.Conclusions It is rarely seen that TSC combined with LCH,and secondary HLH in one case.The clinical features were complex and need to be differetiate.

Administration, Oral ; Anti-Bacterial Agents ; administration & dosage ; Cytomegalovirus Infections ; drug therapy ; immunology ; virology ; Erythromycin ; administration & dosage ; Female ; Humans ; Infant ; Male ; T-Lymphocyte Subsets ; immunology ; Virus Replication

Child ; Humans ; Male ; Myositis ; diagnosis ; drug therapy ; pathology

Charcot-Marie-Tooth Disease ; Child, Preschool ; Humans ; Male

Objective To evaluate the effectiveness of intratracheal injection of pulmonary surfactant (LISA) combined with continuous positive airway pressure (CPAP) on the treatment of neonatal respiratory distress syndrome (RDS). Methods The databases of PubMed, EMBASE, Cochrane, China National Knowledge Infrastructure (CNKI), Wanfang Database, Weipu Database and China Biology Medicine disc (CBM) were searched, and all of the randomized controlled trial of LISA combined with CPAP for treatment of RDS were included. RevMan 5.2 was used to perform meta-analysis. The differences of mortality, bronchopulmonary dysplasia (BPD), retinopathy of prematurity (ROP), intraventricular hemorrhage (IVH), periventricular leukomalacia (PVL), and other complications between LISA group and control group were compared in <34 weeks gestational age preterm infants with RDS. Results Five randomized controlled trials were included with 759 infants in total. Compared with control group, the rate of mechanical ventilation (RR: 0.32,95% CI: 0.13-0.82) and the incidence of BPD (RR: 0.61,95%CI: 0.42-0.88) were significantly decreased in LISA group. There were no differences in mortality and the incidences of ROP, IVH, and PVL between two groups (P>0.05). Conclusion The mechanical ventilation and the incidence of BPD is significantly reduced in the treatment of neonatal respiratory distress syndrome by LISA, but it has no effect on the incidences of other complications and mortality.

[Objective] To detect the expression levels of connexin43(Cx43),P-gp and COX-2 in bone marrow of patients with acute leukemia (AL),and investigate their relationship with the pathogenesis,prognosis and resistance of this condition.[Methods]Using SYBR green real-time quantitativereverse transcription polymerase chain reaction (SYBR-RT-PCR),the expression of Cx43,P-gp and COX-2 mRNA were detected in 77 AL patients at different phases,including 36 initially-treated,20 complete-remission (CR)and 20 relapsed.A follow-up was done in those initially lreated.[Results]Expression levels of Cx43,P-gp and COX-2 mRNA from initially-treated were 0.52±0.57,1.42 ±1.06,1.14±0.95;those from relapse AL patients were 0.20±0.40,2.29 ±1.11,1.69±0.81,respectively,those from CR patients were 0.95±0.37,0.93±-0.73,0.79±0.58,respectively,those from normal patients were 1.16 ±0.67,0.86±0.63,0.61±0.57.Expression levels of Cx43 mRNA in initially-treated and relapse AL patients were significantly lower than those in normal patients and CR patients(initially-treated P were 0.001,0.005;relapse patients were P＜0.001),while the comparison between normal patients and CR patients showed no statistical significance(P=0.185).Cx43mRNA expression level was negatively correlated with P-gp and COX-2 mRNA,and a negative correlation was noted of both two expressions in initially-treated and relapse groups (Cx43 mRNA and P-gp mRNA r were -0.471,-0.362,-0.526;Cx43 mRNA and COX-2 mRNA r were -0.479,-0.344,-0.471).A follow-up of four months was conducted in 36 initially-treated patients,eight of them died.The expression Cx43 in those who died was lower than that who survived.The difference was significant(t=2.16,P=0.042).[Conclusion] Cx43mRNA expression levels of initially-treated and relapse AL patients were lower than those in normal patients and CR patients,P-gp and COX-2 mRNA expression levels of initially-treated and relapse AL patients were higher than those in normal patients and CR patients.Cx43 expre-ssion probably is a favorable prognostic factor.Cx43 is participation in the genesis,development and drug resistance of AL.

BACKGROUND: Human lower limb system under different motion statuses exhibits great difference in terms of kinetic characteristics and joint deformation magnitude. Total hip replacement has been shown to be the best method to solve the severe illness of hip joints today. A good understanding of the responses of human lower limb system, in particular the knee joint, following total hip replacement is significant for rehabilitation training of patients.OBJECTIVE: To analyze the effects of total hip replacement on knee joint deformation during motions by comparing the data collected from a patient who underwent total hip replacement 19 months ago and a healthy control subject under the same testing environment and method.METHODS: The patient was measured through the use of Optotrak Certus motion capture system (Northern Digital Inc.,California), and simultaneously measurements were performed in a healthy control subject presenting with similar body weight and body mass. Measurement indices included step length, step frequency, joint corner, and joint displacement curves. Speed and acceleration of each joint were calculated based on measured data.RESULTS AND CONCLUSION: Following total hip replacement, the structure of natural hip joint was destroyed. Although the gait did not change greatly, experimental data showed that knee joint deformed more greatly than normal gait, indicating the self-accommodation of human body, i.e., increasing the loading and deformation magnitude of knee joints can avoid the injuries caused by hip joint surgery.

Child ; Eosinophilia ; complications ; diagnosis ; therapy ; Fasciitis ; complications ; diagnosis ; therapy ; Humans ; Male ; Myositis ; complications ; diagnosis ; therapy

Objective To explore the clinical accuracy of urine cellular components of RBC,WBC,etc.detected by the Urit-1500 urine analyzer.Methods 1 085 urine samples in this hospital from June to October 2013 were selected and detected by the Urit-1500 urine analyzer and the microscope detection respectively.The results of urine cellular components detected by the urine analy-zer were analyzed.Results In 1 085 urine samples,the coincidence rate of two detection methods in detecting RBC and WBC was 93.8%(1 018/1 085)and 94.0%(1 020/1 085)respectively.In 295 RBC positive urine samples tested by the urine analyzer,the number of negative results tested by microscopy was 49,accounting for 16.6%.In 790 RBC negative urine samples tested by the u-rine analyzer,the number of negative results tested by microscopy was 18,accounting for 2.3%.In 197 WBC positive urine samples tested by urine analyzer,the number of negative results tested by microscopy was 28,accounting for 14.2%.In 888 WBC negative urine samples by urine analyzer,the number of negative results tested by microscopy was 37,accounting for 4.2%.Conclusion De-tecting urine RBC and WBC by using the Urit-1500 urine analyzer should combined with the microscopy and other test indexes and even clinical data to conduct the comprehensive analysis for reducing the misdiagnosis and missed diagnosis as far as possible.

Objectives To investigate the clinical characteristics and prognosis of late-onset group B streptococcal (GBS) sepsis. Methods From Jan. 2007 to Dec. 2011, iffteen neonates diagnosed with late onset GBS sepsis at discharge from NICU were retrospectively analyzed, meanwhile, thirty-four neonates diagnosed with late onset non-GBS Gram-positive bacteria sepsis at discharge were selected as controls during the same period. Results There were signiifcant differences in occurrence rates of shortness of breath, convulsion and apnea between late onset non-GBS sepsis group and late onset GBS sepsis group (P<0.05). The percentages of neonates with white blood cell count (CSF)>100×106/L, high-sensitivity C-reaction protein (hsCRP)>100 mg/L and glucose in CSF<3.11 mmol/L in late onset GBS sepsis group were higher than those in late onset non-GBS sepsis group (P<0.05). GBS was sensitive to penicillin, ampicillin, ceftriaxone, piperacillin/tazobactam, levolfoxacin and vancomycin. The rates of GBS resistance to erythromycin and gentamycin were both 87.5%. There were signiifcant differences in occurrence rates of meningitis, hydrocephalus and ependymitis between late onset GBS sepsis group and late onset non-GBS sepsis group (P<0.05), while no difference in mortality was found between two groups (P>0.05). Conclusions The late onset GBS sepsis is in-sidious, atypical, with many complications and sequelae. It is important for the suspicious neonates to use effective antibiotics as early as possible.