Objective To explore the diagnosis and differential diagnosis of spinal muscular atrophy with respiratory distress type Ⅰ (SMARD1). Method The clinical data, results of gene detection, and follow-up information of a girl diagnosed with SMARD1 were retrospectively analyzed, and related literatures were reviewed. Results The girl was born by cesarean section due to oligohydramnios. After birth, she was transferred to neonatology department for poor feeding and response, and diagnosed with neonatal sepsis, infectious shock, disseminated inravascular coagulation and atypical purulent meningitis. She was discharged after one month of treatment. However, at 2 months old, she presented contracture of ankle joint, abnormal liver function, and myocardial damage. At 6 months old, she had obvious reduced muscular tension and development retardation. At 8 months old, the SMA gene was detected and it was normal. At 9 months old, The panel gene of peripheral neuropathy was detected and found 2 heterozygosis mutations in IGHMBP2 gene, exon8 c.1061-2A>G and exon12 c.1708C>T, which came from her father and mother respectively. Locus of exon12 c.1708C>T has been reported to be associated with the disease, and the other is a shear mutation. The diagnosis of SMARD1 was confirmed by the clinical and gene detection. The girl, 2-year-old now, suffered with recurrent respiratory tract infections, but had no respiratory distress or no respiratory failure yet. Conclusion The clinical phenotype of SMARD1 is complex and diverse. This case is the first domestic case comfirmed by gene detection.

5,6 or 7 respectively,the specificity became gradually higher.But the sensitivity and the diagnoses according rate became lower.Conclusion Holter is a simple shortcut useful tool as a non-invasive means of assessing and filtrating OSAS.

Objective To compare the advantages of three-dimensional(3D) and two-dimensional(2D) ultrasound in embryo transfer. Methods A total of 319 patients accepted embryo transfter were included in this study. 2D and 3D ultrasound were used to investigate the uterine cavity and transfer distance from the fundus (TDF),respectivly. They were divided into four groups according to TDF difference(D-TDF) between 2D and 3D ultrasound(group of DTDF<3mm,group of DTDF3～5mm,group of 6～9 mm,group of DTDF≥10 mm. Pregnancy outcomes among the four groups were compared. Results Of the 319 patients, 41 were observed to have abnormal uterine cavity. For 140 patients, the TDF measured by 2D ultrasound were different from that measured by 3D ultrasound. Clinical pregnancy rate and implantation rate were found lowest in group of TDF≥10 mm mm (7.7% vs 34.1%,38.1% ,40.0% and 3.6% vs 18.2% ,21.2% ,20.0%, P <0.05). Conclusions 2D ultrasound is limit and deficient for embryo transfer, especially for the visualization of uterine cavity and location of catheter tip, however, it may be better achieved with 3D ultrasound. It is helpful to use the 3D ultrasound to place the catheter tip accurately and improve the pregnancy rate of embryo transfer.

Objective To explore the characteristics of clinical features,diagnosis,treatment and prognosis in acute fibrinous and organizing pneumonia (AFOP) patients.Methods We described an 80-year-old woman who was diagnosed with AFOP and got better after treatment with glucocorticoids.Clinical data of 51 patients which have been published in literatures in China and abroad were retrospectively analyzed.The differences in characteristics of clinical features were compared between the elderly and non-elderly patients.Results The case reported herein,who was a 80-year-old female with latent autoimmune diabetes in adults (LADA),presented with fever,dry cough and progressive dyspnea.Chest CT scan showed bilateral multiple patchy consolidation.CT-guided needle aspiration was performed and the pathological examination finding was consistent with AFOP.The patient was treated with oral methylprednisolone and experienced a significant improvement in symptoms and imaging manifestations.But she presented with deterioration with relapsing clinical symptoms when she discontinued corticosteroid treatment by herself,and the clinical symptoms were improved by retreatment.Clinical data of 51 reported cases with AFOP including 27 males and 24 females aged 38 d to 80 years were enrolled and analyzed in the study.Patients aged 60 years and over accounted for 47.1％ (24 cases).No risk or predisposing factor was found in most of cases.Autoimmune diseases were the most common combined diseases in AFOP patients.The top three symptoms were dyspnea (80.4％,41 cases),cough (64.7％,33 cases) and fever (52.9％,27 cases).The incidence of dyspnea was lower in elderly patients than in non-elderly patients [66.7％ (16/24) vs.92.6％ (25/27),P＜0.05],and ground glass opacity in the chest image was also less in elderly patients than in non-elderly patients (P＜0.05).15 patients (29.4％) got definitive diagnosis by minimally invasive procedures including percutaneous lung puncture biopsy or transbronchial lung biopsy.Corticosteroids were the main drug treatment,and 39 cases (76.5 ％) received antibacterial drugs.The mortality rate of AFOP was 37.3％ (15 cases).The average time from symptom onset to final diagnosis was shorter in dead cases than in recovered patients (19 days vs.40 days,P＜0.05).The rate of using mechanical ventilation was higher in dead cases than in recovered patients [57.9 ％ (11/19) vs.9.4％ (3/32),P＜0.05].Conclusions There are no specific clinical and imaging features in AFOP,which is easily misdiagnosed as infectious diseases.AFOP is more common in elderly patients.Dyspnea and other symptoms can easily be ignored,and minimally invasive biopsy and pathological examination findings is helpful for diagnosis.The mortality rate of AFOP is high,and insufficient course of therapy is associated with the increased risk of AFOP relapse.Rapid progression of disease and the invasive mechanical ventilation predispose poor outcomes.

Objective To study the impact of preprocedure intravenous urography (IVU) on the extracorporeal shock wave lithotripsy(ESWL) for proximal ureteral stones.Methods One hundred patients with solitary radiopaque proximal ureteral stones on plain radiographs and no severe hydronephrosis on ultrasonographic examination were allocated randomly to two treatment groups.IVU group (n=50) had IVU before the start of ESWL,whereas patients in control group (n=50) underwent ESWL without IVU.Postop- erative success,the stone-free rates and complications were evaluated in both groups. Results Seven patients in IVU group were excluded from the study. The success rate [95.3%(41/43) in IVU group vs 94.0% (47/50) in control group],stone-free rate [83.7% (36/43)vs 86.0% (43/50)] and complication rate[27.9% (12/43 ) vs 26.0% (13/50)]were similar in two groups (P＞0.05).Conclusions It is not necessary to obtain an IVU for patients who have solitary radiopaque proximal ureteral calculi on plain radiographs with no severe hydronephrosis on uhrasonographie examination before scheduling them for ESWL,thus minimizing the cost,avoiding exposure to contrast medium,and reducing radiation exposure.

Objective To investigate the prevention and mechanism of Extracorporeal shock wave lithotripsy(ESW) induced renal Injury by pre-treating kidneys with low-energy shock waves(LESW).Methods Forty healthy female domestic rabbits were surgically managed to the mono-nephron models and random divided into 4 groups consisting of ten each: Control,LESW,ESW and ESWL plus LESW pretreated groups.LESW group received 100 LESW,ESW group received 1500 standard ESW,and same dose on ESW group except 100 LESW pretreatment in ESW plus LESW pretreated group.The rabbit kidney tissues were obtained 24 hours after ESW.Activity of superoxide dismutase(SOD) and malondialdehyde(MDA) levels in the renal tissue,and the level of N-acetyl-β-D-glucosaminidase(NAG) in urinary were measured.Renal cell apoptosis was detected by TdT-mediated dUTP Nick End Labelling(TUNEL).Results The MDA,the urinary level of NAG and rate of apoptosis in the LESW groups were reduced(P<0.01),and the activity of SOD increased significantly(P<0.05) as compared with ESW group,and these changes in LESW group had no statistics difference compared with the control group(P>0.05).Conclusions LESW pretreatment protocol substantially limits the renal injury that often caused by ESW.LESW may suppress oxidative stress and antagonize the process of renal cellular apoptosis.

Objective To investigate the effects of Xuebijing injection on the production of ICAM-1 and its counterreceptor(LFA-1)in ANP of rats at different time points.Methods ANP was induced by multiple points in- jection of 5% chenodeoxycholic acid into the pancreas,followed by ligation of pancreatic duct.Expressions of ICAM- 1 at different time points were assessed by immunohistochemistry method,the expressions of LAF-1 on neutrophils at different time points were detected by flow cytometer.The effect of Xuebijing injection was also evaluated by de- tecting the output of ascitic fluid,amylase level and histological changes in pancreas and lungs.Results The expres- sions of ICAM-1 in pancreas and lung of Xuebijing injection group decreased significantly than those in ANP group at most time points during the research period(P

Objective To investigate the relationship between CIDE-B change and apoptosis by detecting expression of CIDE-B gene and protein under various injuring conditions(firearm injury and in- cision injury)and comparing neuronal apoptosis.Methods A total of 108 New Zealand rabbits were randomized into firearm injury group,incision injury group and control group.Samples were harvested at different time points after injury for measuring CIDE-B mRNA expression level by RT-PCR,demonstrating morphological distribution of CIDE-B mRNA by in situ hybridization and determining CIDE-B protein level by Western blot.Results Following nerve injury,CIDE-B mRNA expression in spinal cord was en- hanced markedly in the firearm injury group,increased from at day 1,reached peak at day 7,lasted for two weeks and declined after four weeks.CIDE-B mRNA expression was increased late,with small range in the incision injury group.The changes in CIDE-B protein level accorded with those in CIDE-B mRNA level.There was slight CIDE-B mRNA expression,distributing in spinal cord neuronal cytoplasma,in spinal cord tissues in the control group.Conclusions Following peripheral nerve injury,expressions of CIDE-B mRNA and protein are enhanced in spinal cord neurons and distributed in the grey matter of spi- nal cord.Such enhancement is more marked after firearm injury than incision injury.

Aim To study the effect of proteasome inhibitor MG132 on the expression of caspase-3 and apoptosis in cultured human umbilical vein endothelial cells.Methods Human umbilical vein endothelial cells was treated with MG132 (2,5 ?mol?L~(-1)) for 24 h. The apoptotic cells were determined by DNA fragment analysis and flow cytometric analysis. The level of caspase-3 mRNA was quantified by reverse transcription-polymerase chain reaction (RT-PCR). The protein contents of caspase-3 were analyzed by immunocytochemistry.Results The results showed that the increase of the degree of human umbilical vein endothelial cells apoptosis was concentration dependent. MG132 could up-regulate the gene/protein expression of caspase-3.Conclusions The results implicated that proteasome inhibitor MG132 induced human umbilical vein endothelial cells apoptosis by accumulation of caspase-3.

Objective To valuate the left ventricular function and myocardial fibrosis using Dopple tissue imaging(DTI) and integrated backscatter(IBS) in diabetic cardiomyopathy(DCM) rats. Methods Diabetes mellitus(DM) in healthy male SD rats was induced by single injection of streptozotocin (STZ,Sigma) into intraperitoneal at a dose of 65mg/kg body weight. Left ventricular fractional shortening (LVFS),ratio of peak early to late diastolic mitral inflow velocity(E/A) by color Doppler flow imaging-pulsed wave (CDFI-PW), ratio of peak early to late diastolic mitral annulus velocity (Ea/Aa) by DTI,myocardial calibrated IBS (IB%), cyclic variation of IBS(CVIB) by IBS, were determined in rats of 4,12 and 24 weeks after DM was induced. Heart weight index(HWI), Masson's trichrome staining, expression of connective tissue growth factor(CTGF) and activity of sarcoplasmic reticulum Ca2+ -ATPase(SERCA2a) in heart were measured, while the age-matched health rats served as control group. Results ① Diastolic dysfunction of left ventricular was found in diabetic rats detected by CDFI-PW(E/A<1) at the 4th week,and developed gradually. Pseudonormal filling(E/A>1) was found in major diabetic rats at the 24th week,which could be identified by DTI(Ea/Aa<1). The IB% of left ventricular posterior wall was significantly higher in diabetic rats than those in the control group( P<0.05), but the CVIB of the 24th week diabetic rats was lower(P<0.05). The LVFS had no great alteration in six groups(P>0.05).②Compared with the control group, the activity of SERCA2a was reduced, while HWI, collagen volume fraction(CVF),perivascular collagen area(PVCA) and the expression of connective tissue growth factor(CTGF) protein in heart were increased in diabetic rats (P<0.05), and correlation between IB% and HWI, CVF, PVCA,CTGF was significant (P<0.05). Conclusions DTI and IBS can assess early left ventrieular diastolic function and fibrosis of diabetic cardiomypathy in STZ-induced diabetic rats. DTI echoeardiography can identify "pseudonormal" mitral inflow patterns. DCM may be relatived with overexpression of CTGF and decreasion of SERCA2a activity.