Objective To explore the importance of gene diagnosis and prenatal diagnosis of spinal muscular atrophy(SMA),and improve the clinical diagnosis of SMA by analyzing the electrophysiological and gene characteristics of SMA.Methods Fifteen cases with SMA including 9 male and 6 female were enrolled in this study.The age was 5 months to 12 years.The 15 cases were subdivided into 3 clinical types,5 cases of type Ⅰ including 3 male and 2 female aging 5-18 months;7 cases of type Ⅱ including 4 males and 3 females aging 5 months-3 years;3 cases of type Ⅲ including 2 male and 1 female aging 3-12 years.They were all characterized by symmetric muscle weakness(more proximal than distal)associated with atrophy,absence or marked decrease of deep tendon reflexes,loss of voluntary movement and inability to sit or stand.The clinical characteristics and changes of electromyography(EMG)and nerve conduction velocity were assessed in all cases by using Danish Medoc Keypoint myoelectricity and evoked potentials inducer.The survival of motor neuron(SMN)gene was detected by PCR and restriction endonuclease spectrum analysis in 10 cases.Results EMG analysis found 94% patients had spontaneous potential,90% patients had increased duration of motor unit,and amplitude increased in 89% patients.Motor nerve conduction velocity was determined in 78 nerves.Motor nerve compound action potential wave amplitude decreased in 52 nerves,among them,distal latent period prolonged and motor conduction velocity reduced slightly in 36 nerves.Sensory nerve conduction velocity was determined in 45 nerves and remained normal.The SMN gene detection revealed deletion of exon 7 and 8 in 9 cases,deletion exon 7 in 1 case.The SMN gene detection in 10 patients and their parents didn't find any deletion of exon 7 and 8.Conclusions The definite diagnosis of SMA will rely on the typical clinical characteristics,changes of EMG and gene deletion analysis.Gene diagnosis of SMA lays a basis for prenatal diagnosis.

The influence of inner cell mass (ICM) and trophectoderm (TE) score on pregnancy outcomes in frozen-thawed blastocyst transfer cycles was analyzed. A retrospective analysis of 741 cycles of frozen-thawed blastosysts transfer was performed. All cycles were divided into four groups based on the number and morphological score of blastocysts: S-ICM B/TE B group (n=91), the single blastocyst transfer of ICM B and TE B; D-ICM B/TE B group (n=579), double blastocysts transfer of ICM B/TE B; D-ICM B/TE C group (n=35), double blastocysts transfer of ICM B/TE C; and D-ICM C/TE B group (n=36), double blastocysts transfer of TE B/ICM C. The pregnancy outcomes were compared among the four groups. As compared with D-ICM B/TE C group, the clinical pregnancy rate, implantation rate and multiple pregnancy rate were increased in D-ICM B/TE B group (74.96% vs. 57.14%, 57.43% vs. 37.14%, and 48.62% vs. 25%, respectively, P<0.05 for all). Clinical pregnancy rate and implantation rate in D-ICM B/TE B group were also higher than in D-ICM C/TE B group (74.96% vs. 50%, and 57.43% vs. 33.33%, both P<0.05). Multivariable Logistic regression analysis indicated that ICM score was a better predictive parameter for clinical pregnancy (OR=3.05, CI 1.70-5.46, P<0.001), while the trophectoderm score was a better one for early abortion (OR=0.074, CI 0.03-0.19, P<0.001). Clinical pregnancy rate and multiple pregnancy rate in S-ICM B/TE B group were significantly lower than those in D-ICM B/TE B group (46.15% vs. 74.96%, and 2.38% vs. 48.62%, both P<0.05), but there was no significant difference in the implantation rate between the two groups. It was suggested that the higher score of ICM and TE may be indicative of the better pregnancy outcomes. The ICM score is a better predictor of clinical pregnancy than TE, while TE score is a better one in predicting early abortion. Single ICM B/TE B blastocyst transfer in frozen-thawed cycles can also get satisfactory pregnancy outcomes.

Culture environment is the key factor in the construction of dermal skin.It was investigated that the effects of the culture methods,including the static culture and spinner flask culture,and stir speeds on the cells proliferation,metabolism and distribution within collagenchitosan sponges.A higher cell density and specific growth rate was obtained with spinner flask culture versus static culture,especially,the 80 r/min spinner flask culture.The cell distribution in dermal substitutes from stirred culture system was more uniform than static culture,as well as that with increase of stir speeds in spinner flask.In summary,the spinner flasks culture with proper stir speed shows promise for the construction of dermal substitutes in vitro.

· AIM: To inspect and compare the functional vision of an aspheric intraocular lens (Tecnis) with those of conventional monofocal silicone and acrylic intraocular lens and multifocal intraocular lens (Array).· METHODS: The IOLs were tested in the eye model, which was designed to be optically equivalent to the theoretical eye model. The eye model is a combination of a spherical photographic lens with 35mm focal length ( IOL put in a water cell)and a charge coupled device (CCD) camera. The images constructed by the lenses are observed on a monitor of personal computer and the contrasts of the images are analyzed by using commercial image processing software.· RESULTS: The modulation transfer function of the eye model equals the scale produced by the theoretical eye model. The images constructed by changing the diameter of aperture stop and IOL.· CONCLUSION: The proposed eye model is useful for testing functional vision and for inspecting differences of intraocular lens.

Calcinosis ; pathology ; surgery ; Child ; Diagnosis, Differential ; Humans ; Knee ; Male ; Skin Diseases ; pathology ; surgery

Objective To determine the effect of photochemotherapy on the expression of gelatinases. Methods Reverse transcription-polymerase chain reaction and gelatine zymography were employed to detect the effect of photochemotherapy on the expression and bioactivity of gelatinases at mRNA and protein levels respectively. Results Combination of ultraviolet A(UVA,0.8-2.0 J/cm2) and 8-methoxypsoralen(8-MOP,100 ng/mL) resulted in a decrease in the expression and bioactivity of gelatinases. Conclusion Photochemotherapy can inhibit the angiogenesis of endothelial cells through downregulating the expression and bioactivity of gelatinases.

Aim To study the anti-stress depression effect of Jiaweisinisan(JWSNS)and it's mechanism of N-methyl-D-aspartate(NMDA)receptor channel in hippocampus.Methods Chronic mild unpredictable stress(CMUS)was adopted to establish the rat depres-sion model.Before and after model establishing,the sucrose consumptions and the weight of rats were detected.TTC dyeing of hippocampus brain slices ex vivo were used to detect the situation of hippocampus neuron damage and the protective effect of serum containing components of JWSNS.The opening probability and the average opening time of NMDA receptor channels were detected by attach on cell patch clamp,the Ca2+ concentrations in single cell of hippocampus neurons were detected by Tillvis ION software.Results CMUS could decrease the sucrose preference and the weights of rats(P

Objective To explore the value of deoxyribonucleic acid(DNA) content on clinical pathological characteristics of nephroblastoma in children.Methods Twenty-four cases of pediatric nephroblastoma from Jan.1993 to Dec.2007 were proved by pathology.The distribution of the 24 cases according to National Wilms Tumor Study group(NWTSG) criteria of USA was stage Ⅰ(12 cases),stage Ⅱ(7 cases),stage Ⅲ(5 cases).The pathology was highly differentiated in 10 cases,medium differentiated in 8 cases and low differentiated in 6 cases according to the level of differentiation.There were 9 cases of lymphatic metastasis and 15 cases of non-lymphatic metastasis in accordance with lymphatic metastasis.The DNA contents of 24 cases were determined by flow cytometry.Chi-square test was used to analyze the relationship among DNA ploidy and clinical stage,level of differentiation,lymphatic metastasis of children with nephroblastoma.Results Aneuploidy mainly occurred in clinical stage Ⅱ or stage Ⅲ(57.14%,100.0%),there was significant difference compared with that of stageⅠ(25.0%)(P

200 citrinin mutants were screened with the inhibition zone method from the transformants library of Monascus ruber M-7 by Agrobacterium-mediate DNA transfer, which contains more than 5,000 transformants.Then 53 mutants, whose citrinin contents ranged from 0.04?g/g to 154.57?g/g in the red fermented rice (RFR), were achieved by high performance liquid chromatography (HPLC).Color values of RFR prepared by these mutants were also detected.The results showed that there was a positive correlation between the citrinin content and the color value among the mutants.These results provide materials and research bases for ferrther studying the relationship between the production of citrinin and pigment of Monascus ruber at molecular level.

Objective In order to improve the understanding of Kimura's disease,the clinical features and the pathological changes of 12 patients were analyzed.Methods Twelve cases with Kimura's disease ad- mitted to Qilu Hospital of Shandong University were retrospectively reviewed.Results All 12 patients were in relatively good condition and presented as subcutaneous nodules or swelling lymph nodes.Peripheral blood eosinophilia did not occur in 5 cases,4 out of 6 patients had high-level serum IgE.Biopsies were taken in all cases and the characteristic histological presentations were discovered.Only one patient developed pulmonary inflammation and acute myocardial infarction which were rare in Kimura's disease.Conclusions Definite di- agnosis of Kimura's disease mainly relies on biopsy.A patient with Kimura's disease can suffer from severe pulmonary and cardiac diseases,but the relationship between them should be studied further.