AIM:To observe the structural basis of ocular motility abnormalities in patients with congenital fibrosis of the extraocular muscles type Ⅰ ( CFEOM Ⅰ) due to missense mutations in the developmental kinesin KIF21A using high - resolution magnetic resonance imaging ( MRI) .
METHODS: Totally 11 affected individuals reported KIF21A mutations were correlated with MRI studies demonstrating extraocular muscles ( EOMs ) size, location, contractility, and innervation. EOMs and the motor nerve in the orbits were imaged with T1 weighted in a triplanar scan using a dual-phased coils with 2. 0mm thick. Motor nerves were imaged at the brainstem using head coils and 3D-FIESTA with 0. 6-mm thick.
RESULTS: Patients with CFEOM Ⅰ exhibited different degrees of hypoplasia of oculomotor nerve, the abducens nerve and the trochlear nerve were also affected, of which 8 cases of orbital section could see the signal of abnormal nerve dominated by oculomotor nerve to lateral rectus. The both sides of six EOMS in all patients exhibited variable atrophy and abnormal bright internal signal on T1 imaging, particularly severe for the superior rectus and levator muscles.
CONCLUSION: High - resolution MRI can directly demonstrate pathology of motor nerves,affected EOMs, and ‘Pulley' hypoplasia caused by CFEOM Ⅰ due to mutations in KIF21A,and these findings suggest that the neuronal hypoplasia is the etiological factor of CFEOM.

Aim To explore the effects of salvianolic acid B(SAB) and tanshinone ⅡA(TA) alone or the compatibility of these two effective components on the proliferation of rat vascular adventitial fibroblasts, and to observe the effects of the compatibility of the two on cell proliferation with the stimuation of angiotensin Ⅱ(Ang Ⅱ).Methods The effects of SAB and TA alone or the compatibility of the two on cell proliferation were detected by methyl thiazolyl tetrazolium(MTT) method, and flow cytometry was adopted to detect cell cycle with or without the induction of Ang Ⅱ.Results It was shown that SAB and TA alone could inhibit fibroblast proliferation in different degree.Through a series of concentration screening, three effective concentrations were obtained respectively and then the inhibition of cell growth was detected by Pairwise compatibilities.The results showed that the compatibility of TA(10-8 mol·L-1) and SAB(10-5 mol·L-1) had the most significant inhibitory effect(P<0.01), and they could inhibit cell proliferation, further flow cytometry was adopted to detect drug effects on cell cycle, the results indicated that the compatibility of SAB and TA mainly blocked the cells in G0/G1 phase.Induced by Ang Ⅱ, the compatibility of SAB and TA group, compared with Ang Ⅱ group, blocked thee cells in G0/G1 phase;and compared with combination of SAB and TA group, it mainly blocked cell cycle in S phase.Conclusion SAB and TA have certain inhibitory effect on fibroblast proliferation, also they could inhibit the proliferation induced by Ang Ⅱ, mainly by blocking the cells in G0/G1 phase.

OBJECTIVETo explore the influence of the DNA repair gene ERCC2 single nucleotide polymorphisms (SNPs) rs13181, rs1618536, and rs1799793 on male idiopathic infertility in Ningxia, China.

METHODSUsing MassArray, we conducted a case-control study and genotyped three ERCC2 SNPs rs13181, rs1618536, and rs1799793 for 351 males (aged 31.0 +/- 4.2 years) with idiopathic infertility and another 327 normal fertile men (aged 33.0 +/- 5.9 years) as controls.

RESULTSThe ERCC2 AnyG-anyA-anyA genotypes were significantly associated with an increased risk of idiopathic infertility (OR 0.414, 95% CI 0.176 - 0.970), while the three single ERCC2 SNPs rs13181, rs1618536, and rs1799793 showed no significant differences between the cases and controls (P > 0.05).

CONCLUSIONThe ERCC2 SNPs rs13181, rs1618536, and rs1799793 play a role of interaction in male idiopathic infertility in Ningxia, contributing to the risk of the disease.

Adult ; Case-Control Studies ; China ; DNA Repair ; Genotype ; Humans ; Infertility, Male ; genetics ; Male ; Polymorphism, Single Nucleotide ; Xeroderma Pigmentosum Group D Protein ; genetics

Objective To design and manufacture a Shenmen point electronic stimulator and determine its therapeutic effects for insomnia and anxiety.Methods The stimulator was composed of a single point electrode unit and an electronic stimulation generator.The single point electrode unit consisted of a circular transdermal patch and two circular electrodes which was used for precision stimulation on Shenmen point.The electronic stimulation generator released low-frequency square-wave pulse current based on specific parameters to treat the examinees with insomnia and anxiety.The curative effect of the stimulator was tested by Hamilton rating scale for anxiety and evaluation on improved sleeping.Results The stimulator executed precision stimulation based on specific requirements on the point.30-min treatment with the stimulator before sleeping in 10 d contributed to significantly decreasing Hamilton rating scores for anxiety and improving sleeping quality.Conclusion The stimulator markedly attenuates anxiety and insomnia,and can be a convenient,effective and safe choice for adjunctive therapy of insomnia and anxiety.

Objective Though paraquat (PQ) is highly toxic, there is still no effective treatment for PQ poisoning .The aim of the article was to study the protective effect and mechanism of the p 38 mitogen-activated protein kinase ( MAPK) inhibitor SB203580 on PQ-induced acute lung injury in rats . Methods 72 SD rats were randomly divided into three groups ( n=24 ): normal saline (NS) group, PQ poisoning group and p38 inhibitor SB203580 intervention (PQ+SB) group.The arterial blood gas analysis, lung wet and dry ratio (W/D),the expression of tumor necrosis factor-α(TNF-α), the superoxide dismutase (SOD) level and the pathological changes of lung tissues were recorded at different time points after drug intervention . Results On the 1st , 3rd, 5th days after drug intervention in PQ group, the alveolo-arterial oxygen partial pressure difference (PA-aO2) [(45.67 ±4.17), (68.78 ±6.63), (80.23 ±7.12 ) mmHg ], the lung tissue TNF-αexpression (14.63 ±3.10], [18.24 ±2.98], [16.22 ±2.79] pg/mg) and W/D ([4.931 ±0.034], [5.020 ±0.064], [5.079 ±0.016]) in-creased gradually to a peak on the 3rd day, while the SOD level de-creased respectively on the 1st , 3rd, 5th days after drug intervention ([175.26 ±7.98], [167.57 ±8.05], [160.24 ±6.78] U/ug) (P<0.05).Compared with PQ group, PQ+SB group got a decrease in the PA-aO2([80.23 ±7.12] vs [44.17 ±4.16]), the lung tissue TNF-αexpression ([16.22 ±2.79] vs [9.48 ±2.72]) and W/D ([4.805 ±0.070] vs [5.079 ±0.016]) (P<0.05), while the pulmonary SOD level increased in comparison with PQ group ([125.89 ±6.65] vs [160.24 ±6.78]) (P<0.05). Conclusion The p38MAPK inhibitor SB203580 plays a certain protective role in PQ-induced acute lung injury by reducing inflammation and improving antioxidant capacity .

An electrolytically-detachable microcoil is introduced here in the paper. The testing results indicate that, the microcoils have stable mechanical properties, clear radiographic images and fine insulation performance. Their detaching time varies from 30s to 200s when voltage changes from 2V to 5V.
Embolization, Therapeutic ; instrumentation ; Equipment Design ; Intracranial Aneurysm ; therapy

OBJECTIVETo explore the effect of combined gene therapy with interference hTERT and TRF2 gene on the treatment of breast cancer.

METHODSRecombinant adenovirus rAd-hTERT and rAd-TRF2 expressing siRNA-hTERT and siRNA-TRF2 was constructed, and the vectors were transfected into MCF-7 cells. Than the expressions of hTERT and TRF2 proteins were detected by Western blot, the inhibition of MCF-7 cell proliferation by MTT colorimetry, and the changes of MCF-7 cell cycle by flow cytometry and the colony forming ability of MCF-7 cells by clone form test.

RESULTSAt 48 h after transfection, the relative expression amounts of hTERT protein of the PBS control group, rAd-blank group, rAd-HK control group, rAd-hTERT group, rAd-TRF2 group and rAd-hTERT and rAd-TRF2 group were 1.00, 0.94 +/- 0.02, 0.95 +/- 0.04, 0.18 +/- 0.04, 0.95 +/- 0.01 and 0.18 +/- 0.04, respectively. The relative expression amounts of TRF2 protein were 1.00, 1.01 +/- 0.08, 0.96 +/- 0.02, 0.95 +/- 0.08, 0.22 +/- 0.01 and 0.26 +/- 0.02, respectively. After transfection of rAd-hTERT or rAd-TRF2 into MCF-7 cells separately, the inhibition rate of cell proliferation was only 54.6% and 48.4%, there was 8.9% +/- 1.2% or 9.2% +/- 2.3% of MCF-7 cells into M phase, 66.4% +/- 1.5% or 64.6% +/- 1.9% of MCF-7 cells was arrested at G(0)/G(1) phase, and the cell colony forming ability was decreased significantly (cell colony number from 100 in PBS control group down to 41.3 +/- 5.1 and 43.7 +/- 6.4). But after transfection by rAd-hTERT and rAd-TRF2 simultaneously, the inhibition rate of cell proliferation was about 82.1%, and M phase cells was significantly reduced to 4.4% +/- 1.2%. Large numbers of cells were arrested at G(0)/G(1) phase (81.4% +/- 1.3%), and the cell colony forming ability was more significantly decreased (cell colony number there were only 29.2 +/- 3.9).

CONCLUSIONMore effective effect of tumor gene therapy can be achieved by combination of interference hTERT and TRF2 genes as compared with interference by either of the single gene alone.

Adenoviridae ; genetics ; Breast Neoplasms ; genetics ; metabolism ; pathology ; Cell Cycle ; Cell Line, Tumor ; Cell Proliferation ; Female ; Gene Expression Regulation, Neoplastic ; Genetic Therapy ; Genetic Vectors ; Humans ; RNA Interference ; RNA, Small Interfering ; genetics ; Telomerase ; genetics ; metabolism ; Telomeric Repeat Binding Protein 2 ; genetics ; metabolism ; Transfection ; Tumor Stem Cell Assay

OBJECTIVE: To analyze a patient with infertility and a fragile site found at 16q22 by using cytogenetic methods. METHODS: Peripheral blood sample was taken from the patient and subjected to chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis. RESULTS: The patient was found to be a mosaicism for a fragile site at 16q22, which has a variable morphology and cannot be induced by folic acid treatment. No abnormality was found by SNP-array analysis. CONCLUSION A rare fragile site, which can be induced without folic acid treatment, has been identified at 16q22. The strategy of assisted reproduction for such individuals is yet to be explored.
Chromosome Fragile Sites ; Chromosome Fragility ; Chromosomes, Human, Pair 16 ; Genetic Testing ; Humans ; Karyotyping ; Mosaicism

BACKGROUND: Prosthesis simulation is critical for maxillofacial defects caused by maxillofacial tumor and trauma. Few studies have been reported on the vermilion color, much less the correlation between facial skin color and vermilion color. OBJECTIVE: To collect thecolorimetric values of human vermilion and facial skin, so as to determine the colorimetric value range and its relevance.. METHODS: The colorimetric values of vermilion and facial skin in 202 volunteers were measured by Japanese Konica Minolta CM-700d spectrophotometer, L* (brightness), a* (from –a* (green) to +a* (red)), b* (from –b*(yellow) to +a* (blue)) values were surveyed and calculated, and then analyzed with CIELAB color system. The correlation betweencolorimetric values of the vermilion and cheek skin color was analyzed.RESULTS AND CONCLUSION: For the vermilion color in 202 volunteers, L* value was 53.25±3.42, a* value was 11.19±1.70, and b* valuewas 8.77±2.12; for the cheek skin color, L* value was 61.87±3.59, a* value was 7.21±1.29, and b* value was 12.98±1.64. L* value of thevermilion was negatively correlated with its a* value, positively correlated with its b* value, positively correlated with L* value of cheek skin andnegatively correlated with a* value of the cheek skin. a* value of the vermilion was positively correlated with a* value of the cheek skin. b*value of the vermilion was positively correlated with b* value of the cheek skin. L* value of the cheek skin was positively correlated with b*value of the vermilion, and negatively correlated with its a* value. a* value of the cheek skin was negatively correlated with b* value of thevermilion, and negatively correlated with its b* value. In summary, we preliminarily determine the colorimetric value range of the facial skin andvermilion, as well as their relevance, which provide a basis for prosthesis production and choice of colors in clinic.

Aged ; Creatinine ; blood ; Crystallization ; Embolism, Cholesterol ; blood ; diagnosis ; drug therapy ; Humans ; Kidney ; metabolism ; pathology ; Male