Genetic analysis of the ALMS1 gene in two families affected with Alstr?m syndrome / 中华眼底病杂志

Objective:To identify two pathogenic gene mutations in two families with Alstr?m syndrome (ALMS).Methods:A retrospective clinical study. Two patients and five family members from two Han families of ALMS diagnosed at Henan Eye Hospital from August 2020 to December 2021 were enrolled in this study. All participants underwent comprehensive ophthalmic examinations including best corrected visual acuity (BCVA), color test, slit-lamp, fundus biomicroscopy with slit lamp, fundus color photography, optical coherence tomography (OCT) and full-field electroretinography (ff-ERG) after the detailed history of the patient was taken. Five millilitres peripheral venous blood of each subject was collected, and the whole genome DNA was extracted. The pathogenic genes and mutation sites were identified using whole exome sequencing and the identified mutations were verified by Sanger sequencing. Mutation sites were analyzed via bioinformatics softwares.Results:Family one included one victim and two members and family two included one victim and three members. Proband in the first family was a four-year old boy whose chief complaint was poor vision along with photophobia since born, while proband in the second family was a 12-year old girl whose chief complaint was the same. The boy proband could not distinguish color, and both the anterior segment and fundus were normal. Ellipsoid zone of the boy was unclear in both eyes in OCT, and though rod system function decreased mildly-moderately in both eyes, the cone system function decreased severely in ff-ERG. The girl could not distinguish color as well, and the anterior segment was normal, though obvious pigmentary change could be seen in both retinas. The integrity of outer retinal bands was unclear in both eyes in OCT, and both cone and rod systems function decreased severely in both eyes in ff-ERG. Gene tests and bioinformatics analyze showed c.468dupT and c.10819C>T of ALMS1 gene in family one were novel mutations and c.10819C>T in family one and c.10831_10832del in family two were pathogenic mutations. Conclusions:M1, M2 and M3, M4 may be pathogenic gene variants in family 1 and family 2, respectively. The compound heterozygous mutation, c.468dupT and c.10819C>T of ALMS1 gene was a novel mutation.

Genetic analysis of the CACNA1F gene in a family affected with incomplete form Schubert-Bornschein type congenital stationary night blindness / 中华眼底病杂志

Objective:To determine the pathogenic gene mutation in a family with incomplete congenital quiescent night blindness (CSNB) of Schubert-Bornschein type.Methods:A retrospective clinical study. In February 2021, one patient and his parents and elder brother from a Han Chinese incomplete CSNB of Schubert-Bornschein type family diagnosed by clinical and genetic examination at Henan Provincial People's Hospital were included in the study. The patient’s medical history, family history were inquired; best corrected visual acuity (BCVA), color vision, fundus color photography, full-field electroretinogram (ERG), and frequency domain optical coherence tomography (OCT) were examined in detail. Five ml of the subject’s peripheral venous blood was collected and the whole genome DNA was extracted. The genomic DNA of the subject was library constructed, and all-exon probes were polymerized for capture. The suspected pathogenic mutation site was verified by Sanger, and the pathogenicity of the gene mutation site was determined by parallel bioinformatics analysis.Results:The BCVA of both eyes of the proband (Ⅱ2) was 0.4; the color vision test could not recognize the red color. Fundus examination showed no obvious abnormalities. The retina thickness in the macular area of both eyes was slightly thinned. ERG examination of the whole field showed that the amplitude of ERG b wave was significantly reduced under the stimulation of binocular dark adaptation 3.0 and showed a negative waveform. The mother of the proband (Ⅰ2) had normal BCVA, color vision, fundus color photography, and frequency domain OCT examination. The full-field ERG examination showed that the amplitude of each eye reaction was slightly reduced, and the amplitude of the dark adaptation shock potential was significantly reduced. Genetic testing showed that the proband (Ⅱ2) had a c.1761dupC hemizygous mutation in exon 14 of the voltage-dependent calcium channel α1F subunit gene ( CACNA1F gene). The results of protein sequence homology analysis showed that the site was highly conserved in multiple species; the results of bioinformatics analysis showed that the CACNA1F gene c.1761dupC (pY588fs) subsequently had a frameshift mutation and became a stop at position 10. Codons appear translational termination in the conserved regions of the protein. According to the standards and guidelines of the American College of Medical Genetics and Genomics, the mutation was judged to be a possible pathogenic variant. The mother of the proband (Ⅰ2) was a carrier of this site mutation. The clinical and genetic test results of the father and elder brother of the proband were not abnormal. Conclusion:CACNA1F gene c.1761dupC is the pathogenic mutation site of the Schubert-Bornschein type incomplete CSNB family.

Study on the relationship between serum lipid levels and the risk of pulmonary embolism in patients with non-valvular atrial fibrillation / 中华老年医学杂志

Objective:To investigate the relationship between serum lipid levels and the risk of pulmonary embolism in patients with non-valvular atrial fibrillation.Methods:Patients with non-valvular atrial fibrillation admitted to Tianjin Chest Hospital from January 2014 to January 2019 were retrospectively analyzed.According to whether pulmonary embolism was present on CT pulmonary angiography, patients were divided into two groups, the atrial fibrillation with pulmonary embolism group(the AP group)and the control group(the AF group). Clinical data and serum lipid test results were compared between the two groups.The relationship between serum lipid levels and the risk of pulmonary embolism was evaluated.Results:Levels of apolipoprotein A1(ApoA1)and high-density lipoprotein cholesterol(HDL-C)in the AP group were(1.09±0.25)g/L and(1.03±0.28)mmol/L, which were lower than those in the AF group(1.24±0.25)g/L and(1.21±0.37)mmol/L)( t=3.255, P=0.002; t=2.972, P=0.004, respectively). Levels of very low-density lipoprotein cholesterol(VLDL-C)in the AP group were(0.41±0.24)mmol/L, which were higher than those in the AF group(0.26±0.18)mmol/L)( t=-3.761, P=0.000). The grade of cardiac function on admission in the AP group was higher than that in the AF group( χ2=13.074, P=0.004). The proportion of patients treated for atrial fibrillation in the AP group was lower than that in the AF group( χ2=5.445, P=0.020). Logistic regression analysis showed that decreased ApoA1 and left cardiac insufficiency were risk factors for pulmonary embolism in patients with non-valvular atrial fibrillation( OR=8.793, 95% CI: 1.815~42.607, P=0.007; OR=4.388, 95% CI: 1.352~14.244, P=0.014, respectively). Decreased VLDL-C and atrial fibrillation therapy were protective factors for pulmonary embolism( OR=0.180, 95% CI: 0.053~0.610, P=0.006; OR=0.268, 95% CI: 0.072~0.992, P=0.049, respectively). Conclusions:Pulmonary embolism in patients with non-valvular atrial fibrillation is related to serum lipid levels.Regulating levels of serum lipids may reduce the risk of pulmonary embolism in patients with non-valvular atrial fibrillation.

Novel mutations in the TULP1 and CNGB1 genes in a family affected with early onset severe retinal dystrophy / 中华眼底病杂志

Objective:To identify the pathogenic gene mutations in a family with early onset severe retinal dystrophy (EOSRD).Methods:A retrospective clinical study. One patient and three family members from a Han of EOSRD who were diagnosed at Henan Eye Hospital in August 2018 were included in the study. After the detailed history of the patients was collected, all participants underwent best corrected visual acuity (BCVA), slit-lamp, fundus biomicroscopy with the slit lamp, untra-widefield fundus color photography, spectral-domain optical coherence tomography (SD-OCT) and full-field electroretinography (ff-ERG). The subject’s peripheral venous blood of 5 ml was collected and the whole genome DNA was extracted. A genetic eye disease capture chip containing 441 disease-causing genes was used for targeted capture and enrichment of high-throughput sequencing, and Sanger sequencing was performed for the clear pathogenic mutation sites; the analysis software was used for bioinformatics analysis of the mutation sites.Results:A 6-year-old female proband developed poor night vision in both eyes after 1 year old. The BCVA of both eyes were 0.1. The color of the optic disc was slightly lighter; the diameter of the retinal vessels was slightly reduced, and extensive pigment changes can be seen in the retina outside the vascular arch. SD-OCT examination showed that the outer membrane, ellipsoid zone and chimera zone in the central fovea of both eyes were unclear and intermittent. The visual area outside the fovea was neuroepithelial outer plexiform layer, outer nuclear layer, outer membrane, ellipsoid zone. The chimera zone gradually disappeared, and the thickness of the pigment epithelial layer was not uniform. In ff-ERG examination, the functions of the binocular cone and rod system were severely decreased. The results of genetic testing showed that there were c.921C>A homozygous mutations in the Tubby-like protein (TULP1) gene of the proband, and c.3121C>T and c.3488G>A compound heterozygous mutations in the cyclic nucleotide gated channel beta 1 (CNGB1) gene. Amino acid conservation analysis results showed that the above three mutation sites were highly conserved in multiple species; bioinformatics analysis results showed that TULP1 gene c.921C>A (p.Cys307*) had translation termination in the protein conserved region, CNGB1 gene c.3121C>T (p.Arg1041Trp) and c.3488G>A (p.Gly1163Glu) had amino acid polarity changes in the protein conserved region, which led to major changes in the protein spatial structure.Conclusion:TULP1 gene c.921C>A homozygous mutation, CNGB1 gene c.3121C>T and c.3488G>A compound heterozygous mutation are the mutation sites of this EOSRD family.

A novel mutation of CNGB3 gene in a Chinese achromatopsia family / 中华实验眼科杂志

Objective:To identify the pathogenic gene mutations in a Chinese achromatopsia family.Methods:A pedigree investigation was performed.A Chinese Han pedigree from Luoyang city of China was enrolled in Henan Eye Hospital in November 2018.The medical history of the patients was collected.The best corrected visual acuity (BCVA) of the families was examined.The maniafestations of the anterior segment and fundus were obtained via slit lamp biomicroscope and slit lamp lens.The diopter was determined by objective and subjective refraction.Color vision was examined by Farnsworth-Munsell Hue Test.Retinal function was evaluated by international standard electroretinogram (ERG). Retina was observed by color photography, and its structural image was obtained by spectral-domain optical coherence tomography (SD-OCT). The peripheral blood sample was collected from the proband (Ⅲ1) and her younger brother (Ⅲ2) and parents for whole blood DNA extraction, and a whole genome sequencing (WGS) was performed to identify the pathogenic genes and mutation sites, and the sequencing data was compared through disease-related databases such as the Human Genome Databases due to a negative detective result of specific hereditary eye disease enrichment panel based on targeted exome capture technology.Sanger sequencing and bioinformatics analysis was carried out with softwares.The cosegregation analysis was performed.This study protocol was approved by an Ethics Committee of Henan Eye Hospital (No.HNEECKY-2019[15]) and complied with Declaration of Helsinki.Written informed consent was obtained from each subject or the guardian before any medical examination.Results:This family included 2 patients and 8 members with normal phenotypes in 3 generations and showed an autosomal recessive inheritance model.Poor vision and photophobia appeared after birth in both Ⅲ1 and Ⅲ2, and these symptoms did not deteriorate with aging.Pigmentary mottling and atrophic changes could be seen in the retinas of the patients.Reflection bands of external membrane and ellipsoid line in macula of patients were irregular on the OCT image.Color vision examination showed achromatopsia of the patients.ERG indicated that the amplitudes of a-, b-waves of scotopic 0.01, 3.0, 10.0 ERG and oscillatory potentials were slightly reduced, and the amplitudes of a-, b-waves of photopic ERG and wavelets of 30 Hz were seriously reduced in both eyes of Ⅲ1 and Ⅲ2.WGS showed that heterozygous mutations of a novel mutation c. 129+ 1G>A and a known mutation c. 1285dupT of CNGB3 gene in Ⅲ1 and Ⅲ2.The mutations were confirmed by Sanger sequencing.Conclusions:The compound heterozygous mutation in c. 129+ 1G>A/c.1285dupT of CNGB3 gene may be responsible for the achromatopsia pathogenesis in this Chinese Han pedigree.The abnormal phenotype of the patients is the result of both CNGB3 c. 129+ 1G>A and CNGB3 c. 1285dupT mutations simultaneously.

Novel mutations of RPGRIP1 gene in a family with Leber congenital amaurosis / 中华眼底病杂志

Objective:To identify the pathogenic gene mutations in a family with Leber congenital amaurosis (LCA).Methods:In October 2018, 1 patient and 3 normal family members from a LCA family was enrolled in this retrospective study. Detailed medical history of proband was obtained and fixation test, cycloplegic refraction, slit-lamp, fundus color photography and full-field ERG were performed. And other family members underwent BCVA, refraction slit-lamp, fundus biomicroscopy with the slit lamp, fundus color photography and full-field ERG. The family was investigated with a specific hereditary eye disease enrichment panel which contained 441 known pathogenic genes and based on targeted exome capture technology first to indentify the potential pathogenic genes and mutations. Then the potential pathogenic mutations were conformed by Sanger sequencing. Finally, the results were analyzed via bioinformatics analysis.Results:The proband showed no trace object from childhood, but had obvious photophobia and nystagmus. No positive changes were found in the anterior segment, vitreous and retina in both eyes. Both cone and rod system function decreased significantly in full-field ERG in both eyes. Gene tests showed the proband carried both RPGRIP1 c.1635dupA and c.3565C> T, which composited a heterozygous mutation. Bioinformatics analysis showed RPGRIP1 c.1635dupA was a pathogenic mutation, and RPGRIP1 c.3565C> T which was a novel potential pathogenic mutation in LCA.Conclusion:The compound heterozygous mutation, c.1635dupA and c.3565C> T in RPGRIP1 may be responsible for the pathogenesis in this Chinese Han LCA pedigree.

Genetic screening of the congenital aniridia and genotype-phenotype analysis / 中华实验眼科杂志

Objective@#To explore the genotype-phenotype correlation among 3 pedigrees affected with congenital aniridia.@*Methods@#Clinical data and genomic DNA were collected and genetic variations were screened by whole-exome sequencing, with an emphasis on PAX6-related genes.Suspected variations were verified by Sanger sequencing and quantitative polymerase chain reaction (PCR). Written informed consent was obtained from the parents of each propositus prior to entering study cohort.This study protocol was approved by Ethic Committee of Henan Eye Hospital (No.HNEECKY-2017(6)).@*Results@#Genetic analysis identified that a nonsense c. 949 C>T variation and an c. 141+ 1 G>T splicing variation of the PAX6 gene in two of the probands, while the remainder has carried a duplication in 11 p13 (chr11: 31531331-31827959) encompassing the PAX6 and ELP4 genes.Phenotype analysis showed that the probands carrying the nonsense and splicing variations had classical features including complete aniridia, macular hypoplasia, microcornea and nystagmus; the proband carrying the 11p13 duplication had microphthalmos, microcornea, macular dysplasia, iris dysgenesis, and nystagmus.@*Conclusions@#The 11p13 duplication involving the PAX6 gene may have caused over-expression of PAX6 gene, resulting in severe eye abnormalities including microphthalmos and microcornea, macular dysplasia and nystagmus.The relatively mild iris dysgenesis has distinguishing it from classical aniridia due to PAX6 haploinsufficiency.

Changes in lateral ocular movement after two muscle exotropia surgery / 中华实验眼科杂志

Objective This study was to identify the surgical procedures associated with changes of lateral eye movement to help inform surgical planning for patients with concomitant exotropia.Methods The medical records of 87 concomitant exotropia surgical procedures that were performed at Henan Eye Hospital from June 2014 to August 2015 were retrospectively reviewed.The deviation angle was measured by prism and alternate cover test.Photographs and arc campimeter was used to obtain changes of abduction and lateral monocular fixation field respectively.Data were compared preoperatively and postoperatively among five groups based on the surgical procedures.The surgical procedures were 0 mm for control group (61 eyes),8 mm unilateral rectus recession for lateral rectus recession (LR) group (27 eyes),5-6 mm recession/4-5 mm resection for small amount recess-resect (R-R) group (24 eyes),7-8 mm recession/5-6 mm resection for medium amount R-R group (29 eyes) and 8-10 mm recession/7-8 mm resection for large amount R-R group (33 eyes).The minimum follow-up period was 6 months.Informed consent was signed from each patient or the guardian.Results The success,overcorrection and undercorrection rate was 81.61％,5.56％ and 12.64％,respectively.Mean preoperative abduction of each group was (11.86± 1.11)mm in the control group,(12.04±0.68)mm in the LR group,(11.58 ± 1.06)mm in the small amount R-R group,(11.86±0.93)mm in the medium amount R-R group and (12.22±0.60)mm in the large amount R-R group.The postoperative mean abduction of each group was (11.81±1.03),(11.81 ±0.70),(10.78±1.05),(10.54±1.07) and (9.90±0.82)mm,respectively.Mean abduction among the five groups was not significantly different preoperatively (F =1.85,P =0.12),while it was significantly different postoperatively (F =28.04,P =0.00).The abduction between control group and small amount R-R group was not significantly different postoperatively (P =0.99),but the abduction of control group was significantly greater than that of all the R-R groups (all at P=0.00).Mean lateral monocular fixation field of each group preoperatively was (50.82 ± 3.30) ° in control group,(51.48 ±2.39)° in LR group,(50.13±3.51)° in small amount R-R group,(51.06±2.90)° in medium amount R-R group and (52.09±2.61)° in large amount R-R group.The postoperative mean lateral monocular fixation field of each group was (50.52 ± 3.51)°,(50.11 ± 2.36)°,(46.38 ± 3.67)°,(44.00 ± 3.00)°,(41.84 ±2.46)°,respectively.Preoperative lateral monocular fixation field among the five groups was not significantly different (F =1.75,P =0.14),while postoperative difference was significant (F =55.75,P =0.00).Lateral monocular fixation field between control group and LR group was not significantly different postoperatively (P=0.57),but the mean lateral monocular fixation field of control group was significantly greater than that of all the R-R groups (all at P =0.00).Conclusions The successful alignment rate of unilateral recess/resect procedure is satisfying,but it can also create abduction deficit especially in large surgical amounts eye.Patients with binocular vision will be sensitive to diplopia in side gaze;in such cases,the consequences of recess/resect procedure should be considered particularly to avoid decrease of the binocular single vision field.

The 2-year efficacy study of femtosecond laser corneal small incision lenticule extraction for correction of myopia and myopic astigmatism / 中华实验眼科杂志

Background Researches showed that femtosecond laser corneal small incision lenticule extraction (SMILE) was used in the correction of myopia and myopic astigmatism due to its fast recovery,good shortterm efficacy and few complications.However,few research focused on its long-term efficacy.Objective Thisstudy was to evaluate the effectiveness,safety,predictability,stability and complications of SMILE.Methods A serial cases-observational study was carried out under the approval of Ethic Committee of Henan Eye Institute and informed consent of patients.Sixty-seven eyes of 34 patients with myopia and myopic astigmatism were included in Henan Eye Institute from January to June 2013.All the patients received SMILE and followed-up for 2-year duration.The uncorrected visual acuity (UCVA),best corrected visual acuity (BCVA),automatic optometry,intraocular pressure and corneal topography were examined before surgery and 1 day,1 week,1 month,3 months,1 year and 2 years after surgery and calculated the spherical equivalent (SE).The long-term efficacy of SMILE included effective index (preoperative BCVA/postoperative UCVA),safety index (postoperative BCVA/ preoperative BCVA),predictability (linear regression analysis between actual SE and attempted SE) and refractive stability (SE changes at postoperative time points).Results The preoperative BCVA was ≥ 20/20 in 60 eyes with the percentage of 89.55％.UCVA≥ 20/20 were found in 61 eyes and 60 eyes in postoperative 3 months and 2 years respectively (91.04％ and 89.55％).The effective index was 1.038±0.182 and 1.029±0.231 in postoperative 3 months and 2 years respectively,showing an insignificant difference between them (t =0.400,P ＞ 0.05).Compared with the preoperative BCVA,8.96％ (6/67) and 10.45％ (7/67) eyes lost 1 line at 3 months and 2 years after surgery,respectively.The safety indexes were 1.141±0.193 and 1.312±0.242 at 3 months and 2 years after surgery,with no significant difference between them (t =0.414,P＞0.05).A linear correlation was found between actual SE and attempted SE both at postoperative 3 months and 2 years,with the linear regression equations of Y=0.897 1X-0.440 8 (R2 =0.914 2,P＜0.05) and Y =0.893 7X-0.382 3 (R2 =0.915 7,P＜0.05),respectively.The SE was (0.013±0.578),(-0.033±0.489),(-0.106±0.508),(-0.103±0.375),(-0.154±0.518) and (-0.147±0.366)D 1 day,1 week,1 month,3 months,1 year and 2 years after surgery,respectively,and there were no significant difference among different time points (F =0.185,P =0.176).Eighteen in the 67 eyes occurred opaque bubble layer after surgery.Diffuse lamellar keratitis appeared in 6 eyes and punctate keratitis was in 2 eyes.These complications were cured 1 month after administration of drugs.Conclusions SMILE is good in effectiveness,safety,predictability and refreactive stability and has fewer complications during 2-year following-up.

Psychological Stress Factor,Anxiety and Depression in Irritable Bowel Syndrome Patients among Soldiers in Northeast Area / 胃肠病学

Background:The pathogenesis of irritable bowel syndrome(IBS)is not fully known,social psychological factor is the important factor of IBS,especially the relationship with anxiety and depression. Aims:To investigate psychological stress factor,anxiety and depression in IBS patients among soldiers in northeast area. Methods:A total of 11 400 soldiers in northeast area were enrolled by multistage,stratified,cluster random sampling method asking to fulfill a questionnaire on IBS. Zung self-rating anxiety scale(SAS)and Zung self-rating depression scale(SDS)were assessed,and the relationship with anxiety,depression and stress was analyzed. Results:The incidence of IBS was 15. 9% . Prevalences of anxiety and depression in IBS group were significantly higher than those in non-IBS group(22. 9% vs. 9. 6% ,26. 6% vs. 12. 4% ,P< 0. 05). Score of SAS and SDS in IBS group were significantly higher than those in non-IBS group(50. 86 ± 7. 27 vs. 36. 54 ± 6. 97,53. 47 ± 7. 86 vs. 38. 25 ± 9. 83,P < 0. 05). Positive correlation was found between score of SAS and SDS and stress factors such as feeling lonely,depression,intensive training,working pressure,poor relationship with colleagues,solving emergency event or participating in military exercises in IBS group(P < 0. 05). Conclusions:IBS in soldiers is related with stress and psychological factors.

Comparison of different methods for the measurement of central and paracentral corneal thickness in post-LASIK eyes / 中华实验眼科杂志

Background Accurate measurement of corneal thickness is very important during the pre-and post-operative management of corneal surgical procedures,especially laser-assisted in-situ keratomileusis (LASIK),which is the most popular approach to the correction of refractive errors currently.This may be particularly important for the patients who have undergone previous laser refractive surgery with suboptimal outcomes and are being considered for an enhancement procedure.Objective This study was to compare the measuring outcomes of corneal thickness by slit-scanning pachymetry,non-contact specular microscope,anterior segment optical coherence tomography (AS-OCT)and ultrasound pachymetry,with a focus on central and midperipheral (from the central 3.0 mm) region of cornea in post-LASIK eyes.Methods Sixty-four right eyes of 64 patients who received LASIK were collected in Henan Eye Institute,Henan Eye Hospital from March to June 2011 with the equivalent spherical diopter of (-4.75±2.38)D and horizontal corneal diameter of (11.36±0.32)mm.Central corneal thickness was measured on each eye by using non-contact specular microscope (Topcon SP-3000P),slit-scanning pachymetry (Orbscan Ⅱ),AS-OCT and A-type ultrasound pachymetry,respectively,and the paracentral corneal thickness including 12:00,2:00,6:00 and 10:00 meridian was measured using Orbscan Ⅱ,non-contact specular microscope and AS-OCT.The measuring values and the agreement from different instruments were compared and evaluated.Results The mean central corneal thickness was (467.12±31.10)tμm for AS-OCT,(466.67±30.99)μm for ultrasound pachymetry,(441.84 ± 33.65) μm for specular microscopy and (422.51 ± 44.09) μm for Orbsan Ⅱ,respectively,showing a significant difference among the four methods (F =23.730,P =0.000).The central thickness value of the A-type ultrasound pachymetry was significantly higher than that of Orbsan Ⅱ or non-contact specular microscope (q =6.940,6.720,both at P =0.000).Compared with Orbscan Ⅱ,the measuring values of non-contact specular microscope and AS-OCT were significantly higher (q =-5.54,6.940,both at P =0.000),and the measuring value of AS-OCT was significantly higher that of non-contact specular microscope (q =6.800,P =0.000).The lowest difference value (25.3 μm)and the best agreement was found between the ultrasound pachymetry and AS-OCT.The paracentral corneal thickness values in 12:00,2:00,10:00,6:00 meridians were highest for Orbsan Ⅱ and the next for AS-OCT,and non-contact specular microscope had the lowest values,with significantly differences among them (F =5.020,22.950,67.890,18.850,all at P ＜ 0.01).Conclusions The corneal thickness values vary with the different instruments.Orbsan Ⅱ underestimates the central corneal thickness and overestimates the midperipheral corneal thickness,and non-contact specular microscope underestimates both the central and midperipheral corneal thickness.The measuring outcome from AS-OCT has a good agreement with ultrasound pachymetry and therefore they can be used interchangeably.

Twin pregnancy obtention of patient with nonmosaic klinefelter's syndrome and his wife with chromosome 9 inversion by ICSI treatment

A 24-year-old man was diagnosed with klinefelter's syndrome [KS] and his wife was found to have an inversion on chromosome 9-46, XX, inv [9] [p11q21]- because of infertility. Intracytoplasmic sperm injection [ICSI] was performed for fertilization after fluorescence in-situ hybridization [FISH] was used to analyze the aneuploidy rate of the X and Y chromosomes of the ejaculated sperms of the patient, and 99 sperms were haploid among 100 sperms that were to be analyzed. A twin pregnancy was achieved. The chromosomes of the two fetuses were identified as 46, XY and 46, XY, inv [9][p11q21] after a prenatal diagnosis at 18 weeks gestation. Two healthy twins were born through caesarean section at 32 weeks gestation because of premature rupture of membranes [PROM]

Secretion expression of BPI23-haFGF fusion gene in Pichia pastoris X-33 and identification of its biological activity / 生物医学工程学杂志

The BPI23-haFGF fusion gene was subcloned to the yeast expression vector pPICZaA and the recombinant plasmid pPICZaA-BPI23-haFGF was constructed. After linearization by sac I, the construct was introduced into X-33 yeast cells. The efficient engineering strain was obtained by the resistance and phenotype selection and identified by specific PCR. SDS-PAGE and Western blot analysis indicated that a 43 KD protein band coincident with the anticipated fusion protein size expressed in the culture supernatant of the transformed yeast cells, which accounted for above 50% of the total proteins of the culture supernatant. About 90% purity of recombinant BPI23-haFGF fusion protein was obtained by affinity chromatography. The in vitro bioactivity testing showed that the purified fusion protein killed E. coli and promoted proliferation of NIH3T3 cells, suggesting that the recombinant BPI23-haFGF fusion protein possessed both of BPI and FGF functions.

Importance and Model for Hospital's Evaluation on Drug Suppliers / 中国药房

OBJECTIVE:To provide references for the evaluation of drug suppliers in hospital so as to promote the suppliers to enhance their service level. METHODS: The drug suppliers were evaluated comprehensively with on-time delivery percentage, drug price and post-sale service as evaluation criteria. RESULTS & CONCLUSIONS: The evaluation of drug suppliers can not only raise the service level of the suppliers, but also facilitate a scientific and standardized management of drug supply. However, great importance should be attached to the impartiality and fairness in the evaluation.

XBJ Oxgen Inhalation Treat Chronic Pulmonary-cardiac Disease in Acute Period / 浙江中医药大学学报

[Objective] To observe the clinical therapeutic effect of XBJ oxygen inhalation on chronic pulmonary-cardiac disease in acute period.[Method] Randomly divide 150 cases into blank control group(1),vein administration group(2),oxygen inhalation group(3),observe their clinical effect,lung function,blood-gas analysis,cardiac function grade and other indexes.[Result] Group 3 could improve patients lung function,blood-gas analysis,cardiac function grade and other indexes,which had marked advantages compared with other 2 groups.

Protective Measures Against Occupational Hazardous Factors for Pharmacists in Hospital Pharmacy / 中国药房

OBJECTIVE: To analyze the occupational hazardous factors in hospital pharmacy so as to enhance pharmacist’s awareness of self-protection against such hazards. METHODS: The occupational hazardous factors including physical factors, chemical factors and psychological factors etc were analyzed and the countermeasures were discussed. RESULTS & CONCLUSIONS: Pharmacists should be cautious to the occupational hazards, strengthen traning and education, raise awareness of self-protection to guard against the occupational hazard event.

Experience of Drugs Stocktaking in Central Dispensing Room of Our Hospital / 中国药房

OBJECTIVE:To provide reference for the improvement of management level in hospital central dispensing work.METHODS:By means of "Army No.1" system,drug stocktaking was performed based on goods section number.RESULTS & CONCLUSIONS:Due to "Army No.1" system,the target of accounts-goods conformity rate ≥90% has come off.Besides,the monthly inventory profits and losses main at a balance basically.This experience deserves to be popularized.