2009年 · 第122卷第22期

With the development of genetic approaches over the past decade, it has become possible to genetically identify some inheritable eye diseases. Some eye diseases are caused by mutations in a single gene, while other eye diseases, such as retinitis pigmentosa, are related to multiple genes, Disease causative mutations and phenotypes may vary by ethnicity and geography。

Abstract：Background A Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified.The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage nalysis.Methods Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography,fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months.Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted.Linkage analysis was performed for candidate genes or loci using microsatellite markers.Results Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD.The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUC Y2D, and AIPL1) and two genetic loci (4p15.2-16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis.Conclusions The clinical findings of this Chinese family with CACD shared similarities with previously reported families of other ethnicities. Linkage analysis excluded the known genes and genetic loci, indicating genetic heterogeneity of the disease。

Abstract：Background Mutations in the transforming growth factor beta 1 (TGFBI) gene cause several types of autosomal-dominant corneal dystrophies. We investigated the role of this gene in a Chinese family affected by granular corneal dystrophy (GCD).Methods Family history and phenotypic data were recorded. The diagnosis of GCD was made on the basis of clinical evaluation. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intron-exon boundary sequences of TGFβI were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing.Results A heterozygous C to T transition at nucleotide c. 1663 (CGG to TGG R555W) of TGFβI gene was present in two affected members but was absent in the rest of the family members.Conclusion A recurrent pathogenic R555W of TGFβI gene mutation is identified, which appears to be the predominant mutations causing GCD in different populations。

Abstract：Background Branch retinal vein occlusion (BRVO) is a common retinal vascular disorder of the elderly and both intravitreal triamcinolone acetonide (TA) and intravitreal bevacizumab were reported to be effective. The purpose of this study was to compare intravitreal bevacizumab with intravitreal TA for the treatment of macular edema resulting from BRVO.Methods The retrospectively comparative interventional study included a bevacizumab group of 34 BRVO patients (1.25 mg bevacizumab) and a TA group of 34 BRVO patients (4.0 mg TA), and the two groups were matched by baseline best corrected visual acuity (BCVA). Examinations were designed to be carried out at 1 day, 3 days, 1 month, 2 months, 3 months, 6 months and 1 year after each injection. The mean follow-up was (148.43±130.56) days. Main outcome parameters were BCVA and morphometric measurements of the macula obtained by optical coherence tomography.Results In all follow-ups, the mean changes of BCVA (LogMAR) between two groups were not significantly different (P >0.10). Similarly, the rates of patients who got BCVA improvement >2 lines or lost BCVA >2 lines were not significantly different, either (P >0.10). In both groups, compared with baseline, the mean central macular thickness (CMT) got reduction from 4 weeks to 1 year after initial injection, however, which lost statistical significance at 6-month follow-up in TA group (P=0.25) and lost significance at 3-month and 6-month follow-up in bevacizumab group (P=0.07, 0.21). The mean CMT between two groups differed at 3-month follow-up (P <0.01), while almost kept parallel in other follow-ups (all P >0.40). In TA group, retinal pigment epithelium tear occurred in 1 eye at 8 weeks after initial injection and 12 eyes (35.3%) got intraocular pressure >21 mmHg. In bevacizumab group, no severe complications were observed.Conclusion For BRVO, intravitreal bevacizumab versus intravitreal TA causes a similar increase in visual acuity and reduction of macular edema (except 3-month follow-up) with minor complications during 1 year。

Abstract：Background Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a rare congenital ophthalmic disorder,characterized by congenital eyelid malformation including bilateral ptosis, shortening of the horizontal eyelid fissure,epicanthus inversus, and increased distance between the inner canthi. In this research, we studied the histological structure and ultrastructure of medial canthal ligament of patients with BPES.Methods Thirty patients with BPES who received plastic surgery at the Zhongshan Ophthalmic Center from March 2006 to January 2008 were studied. There were 17 males and 13 females with an average age of (8.73±3.37) years (3-31 years). The medial canthal ligaments of patients were collected during the plastic surgery to analyze the histological structure by hematoxylin and eosin (HE), Congo red, van Gieson's (VG), Masson trichrome and aldehyde-fuchsin staining. The ultrastructures of the medial canthal ligaments were also analyzed by scanning electron microscopy (SEM) and transmission electron microscopy (TEM). Fifteen samples of medial canthal ligament from healthy persons with an average age of (9.02±3.12) years (6-30 years) were collected as a control group.Results Morphological and histological study showed that the medial canthal ligaments of BPES patients were composed of collagen fibers, a few elastic fibers and striated muscles. The collagen fibers assemblies were disorganized and the fibrous connective tissues were undergoing hyaline degeneration. The karyopycnosis of fibroblasts was located among the collagen fibrils and the numbers of fibroblasts were decreased. Ultrastructural study with SEM showed that the collagen fibers were larger than normal, irregular and loose. Parts of the collagen fibers were broken and had a coarse surface. Ultrastructural study with TEM showed that the fibroblasts had less cytoplasm, fewer organelles and the nucleus displayed pyknosis.Conclusions The medial canthal ligament in BPES patients is composed chiefly of collagen fibers. The collagen fibers of medial canthal ligaments in BPES patients are disorganized and hyaline degeneration is present. The study revealed that the medial canthal ligament of BPES patients might have congenital dysplasia。

Abstract：Background Multifocal lens has become popular in cataract surgery. Short-term outcome after AcrySof ReSTOR Lens implantation had been reported by many studies, but long-term visual performance and the effect of posterior capsular opacification (PCO) on visual performance need further investigation.Methods This retrospective study involved 54 eyes from 41 cataract patients implanted with ReSTOR lens, with a follow-up period of 12 to 31 months. Manifest refraction spherical equivalence (MRSE), monocular uncorrected and best-corrected distance visual acuity, uncorrected and distance-corrected near and intermediate visual acuity, contrast sensitivity were assessed. The effect of PCO on visual performance was evaluated by comparing visual parameters between pre and post-capsulotomy.Results Uncorrected distance visual acuity of eyes with MRSE within ±0.5 diopter (D) was better than those with MRSE greater than ±0.5 D (P <0.05). Uncorrected distance and near visual acuity (LogMAR) was 0.10 and 0.17 respectively.Best corrected distance visual acuity and best distance-corrected near visual acuity (LogMAR) was 0.00 and 0.16, a significant improvement was noted after correction (P=0.000, P=0.001, respectively). Contrast sensitivity logarithm was comparable with the normal value at difference spatial frequencies except at 12 cpd. In 5 eyes with mild PCO,post-capsulotomy visual parameters were better than pre-capsulotomy (P<0.05).Conclusion ReSTOR lens provides a good long-term distance and near vision, functional intermediate vision and contrast sensitivity. Mild PCO significantly affects visual performance and needs early intervention。

Abstract：Background Many studies have suggested that the imbalance of angiogenic factor and anti-angiogenic factor expression contributes significantly to the development of choroidal neovascularization (CNV), and ultrasound microbubble combination system can increase the gene transfection efficiency successfully. This study was designed to investigate whether ultrasound-mediated microbubble destruction could effectively deliver therapeutic plasmid into the retina of rat, and whether gene transfer of pigment epithelium-derived factor (PEDF) could inhibit CNV.Methods Human retinal pigment epithelial cells were isolated and treated either with ultrasound or plasmid alone, or with a combination of plasmid, ultrasound and microbubbles to approach feasibility of microbubble-enhanced ultrasound enhance PEDFgene expression; For in vivo animal studies, CNV was induced by argon lasgon laser in rats. These rats were randomly assigned to five groups and were treated by infusing microbubbles attached with the naked plasmid DNA of PEDF into the vitreous of rats followed by immediate ultrasound exposure (intravitreal injection); infusing liposomes with the naked plasmid DNA of PEDF into the vitreous (lipofectamine + PEDF); infusing microbubbles attached with PEDF into the orbit of rats with ultrasound irradiation immediately (retrobular injection); infusing microbubbles attached with PEDF into the femoral vein of rats with exposed to ultrasound immediately (vein injection). The CNV rats without any treatment served as control. Rats were sacrificed and eyes were enucleated at 7, 14, and 28 days after treatment. Gene and protein expression of PEDF was detected by quantitative real-time RT-PCR, Western blotting and immunofluorescence staining, respectively. The effect of PEDF gene transfer on CNV was examined by fluorescein fundus angiography.Results In vitro cell experiments showed that microbubbles with ultrasound irradiation could significantly enhance PEDF delivery as compared with microbubbles or ultrasound alone. In the rat CNV model, transfection efficiency mediated by ultrasound/microbubbles was significantly higher than that by lipofectamine-mediated gene transfer at 28 days after treatment. The study also showed that with the administration of ultrasound-mediated microbubbles destruction, the CNV of rats was inhibited effectively.Conclusions Ultrasound-microbubble technique could increase PEDF gene transfer into rats' retina and chorioid, in association with a significant inhibition of the development of CNV, suggesting that this noninvasive gene transfer method may provide a useful tool for clinical gene therapy。

Abstract：Background No-reflow phenomenon during percutaneous coronary intervention (PCI) for acute myocardial infarction (AMI) is a predictive factor of continuous myocardial ischemia, ventricular remodeling and cardiac dysfunction, which is closely associated with a worse prognosis. This study aimed to evaluate intracoronary nitroprusside in the prevention of the no-reflow phenomenon in AMI.Methods Ninety-two consecutive patients with AMI, who underwent primary PCI within 12 hours of onset, were randomly assigned to 2 groups: intracoronary administration of nitroprusside (group A, n=46), intracoronary administration of nitroglycerin (group B, n=46). The angiographic results were observed. The real-time myocardial contrast echocardiography (RT-MCE), including contrast score index (CSI), wall motion score index (WMSI), transmural contrast defect length (CDL) and serious WM abnormal length (WML) were recorded at 24 hours and 1 week post-PCI.High sensitivity C-reactive protein (Hs-CRP) was examined by immune rate nephelometry. N-terminal prohormone brain natriu retic peptide (NT-proBNP) was tested with enzyme-linked immunosorbent assay. Patients were followed up for six months. Major adverse cardiac events (MACE) were recorded.Results The incidence of final TIMI-3 flow in group A was much higher than that in Group B (P <0.05), final corrected TIMI frame count (cTFC) in group A decreased significantly than that in group B (P <0.01). The CSI, CDL/LV length,WMSI and WL/LV length in group A were significantly lower than that in group B (P <0.01). Levels of Hs-CRP and NT-proBNP at 1 week post-PCI decreased significantly in group A than that in group B (P<0.01). Patients were followed up for 6 months and the incidence of MACE in group A was significantly lower than that in group B (P<0.05).Conclusion Intracoronary nitroprusside can improve myocardial microcirculation, leading to the decrease of the incidence of no-reflow phenomenon and better prognosis。

Abstract：Background Currently intra-aortic balloon pump (IABP) has been widely used in patients with acute coronary syndrome (ACS) who undergo percutaneous coronary intervention (PCI). However, few studies have been done with regard to the clinical outcome and safety of IABP in assisting PCI in aged patients with ACS. The purpose of the present study was to evaluate the safety of IABP in different age groups of patients with ACS.Methods Data on 292 ACS patients who received IABP-assisted PCI in Shenyang General Hospital of People's Liberation Army were retrospectively analyzed. More specifically, the successful rate, mortality and complications associated with the treatment were compared between the senior (>60 years old) and the non-senior (<60 years old) groups of patients.Results The attack rate of non-ST segment elevation ACS was significantly higher in the senior group than in the non-senior group (38.8% vs 21.1%, P <0.01). The incidence of the IABP-associated complications was not significantly different between both groups (P >0.05).Conclusion The clinical outcome and safety of IABP-assisted PCI in the elderly patients were comparable to that for the non-elderly patients。

Abstract：Background Laparoscopic dismembered pyeloplasty is technically feasible for ureteropelvic junction (UPJ) obstruction although it is still challenged by its technical difficulty and time-consuming. In this study, we compared the initial results of retroperitoneal laparoscopic pyeloplasty versus a combined laparoscopic dissection and open reconstruction through a small incision in the treatment of UPJ obstruction.Methods Sixty-four patients with primary UPJ obstruction underwent pyeloplasty: 32 patients underwent laparoscopic procedure and 32 patients underwent open assisted laparoscopic surgery including two steps, ie, laparoscopic dissection of the UPJ transperitoneally and then pyeloplasty via an extended small incision. The demographic data and intraoperative, postoperative and follow-up conditions of patients were compared between the two groups.Results Preoperative data were comparable in the patients of the two groups. The operative time was shorter (60.9 minutes vs 157.7 minutes, P <0.0001) and the complication rate was lower (9.4% vs 31.3%, P <0.05) in the open assisted group than in the laparoscopic group. The estimated blood loss (42.3 ml vs 47.8 ml), time to have normal diet (37.6 hours vs 33.8 hours), and hospital stay (6.7 days vs 6.2 days) were equivalent. The operative success rate was 97% for the open assisted group and 91% for the laparoscopic group.Conclusions The procedure of combined small incision with laparoscopy for UPJ obstruction is technically easy, and the results are promising. It can be used as an alternative to conventional procedures。

Abstract：Background Laparoscopic entry is of primary importance in laparoscopic surgery because of its potential association with serious complications such as visceral and vascular injuries. There are several approaches now available for laparoscopic entry. The present study reported a modified open trocar first-puncture approach (Yan's open technique) and validated its safety and practicability in a multi-center research.Methods The study was performed in seven gynecological endoscopy centers for 8 successive years from September 1998 to March 2006 involving 17 350 patients, who received the modified open trocar first-puncture approach developed by Dr. LIU Yan as the study group (MOT group). The "Yan's open technique" is the umbilical incision with a scalpel and then a 10-mm trocar entry into the abdominal cavity through direct trocar puncture or insertion of the cannula sheath via the opened umbilicus under no resistance. Another 4570 patients received the traditional Veress needle puncture as the control (VN group). The first puncture procedures of both groups were performed by 28 experienced gynecologic laparoscopists and 170 learners.Results In MOT group, the successful achievement rate (AR) of first puncture was 99.99% (17 348/17 350), including smooth manipulation in 17326 cases and unsmooth manipulation in 22 cases. The remaining two cases failed.First-puncture associated complications occurred in two cases (0.01%). In VN group, the successful AR of first puncture was 99.89% (4565/4570), including smooth manipulation in 4542 cases and unsmooth manipulation in 23 cases. The remaining five cases failed. First-puncture associated complications occurred in four cases (0.09%). There was no significant difference in the successful AR between the experienced gynecologic laparoscopists of the two groups (100% vs 100%, P >0.05), but the difference was significant between the learners of the two groups (99.98% vs 99.81%, P <0.05). The complication rate of VN group was significantly higher than that of MOT group (0.09% vs 0.01%, P <0.05).Conclusions Compared with the traditional Veress needle puncture, the modified open trocar first-puncture is easier to follow, especially for learners. In addition, it can avoid possible Veresa needle-associated injuries. Opening the umbilical hole for the sake of minimizing or zeroing puncture resistance is a safer and more practicable maneuver for laparoscopic entry。

Abstract：Objective To review the update research progress about the treatment of diabetic macular edema and to give helpful guidelines in the treatment of diabetic macular edema based on available evidence to date.Data sources A literature search of all English articles was performed on the online electronic PubMed database dated 1984 to 2009. The keywords searched included: macular edema, therapy, laser coagulation, intravitreal triamcinolone acetonide, vascular endothelial growth factor inhibitor, protein kinase C inhibitor and Pars plana vitrectomy. After finding relevant articles within these search limits, a manual search was conducted through the references from these articles.Study selection Original articles and critical reviews were reviewed and selected to address the stated purpose.Results To date, demonstrated means to reduce the risk of vision loss from diabetic macular edema include focal/grid laser photocoagulation and improved metabolic control. Emerging pharmacologic therapies (intravitreal triamcinolone acetonide, vascular endothelial growth factor inhibitors and protein kinase C beta-isoform inhibitors) and Pars plana vitrectomy have shown early promise in the treatment of diabetic macular edema.Conclusions As there has been extensive development in multiple treatments of diabetic macular edema, choice of the most suitable treatment for specific patients becomes important. Combination therapy of laser, pharmacological and surgical treatment modalities may offer an alternative to treatment of diabetic macular edema。

Gynecomastia, characterized by the growth of breast glandular tissue in boys, is occasionally seen in clinics. This growth can manifest at any age, but 40% of cases present in adolescent boys. Even though gynecomastia is a benign condition, patients are often emotionally burdened by this condition. The pathophysiological process of gynecomastia is mainly due to the imbalance between testosterone and free estrogen effects on the breast tissue, and hormone therapy.1-3 The disease is characterized by declined testosterone and slightly elevated estrogen。

Primary hyperoxaluria (PH) is a rare autosomal recessive disorder of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Because oxalate is excreted exclusively by the kidney, hyperoxaluria leads to calcium oxalate nephrolithiasis, nephrocalcinosis, and renal failure。

Persistent truncus arteriosus (PTA) is a rare congenital cardiac anomaly, and has an incidence of about 0.5 to 0.9 per 10 000 live births. Almost all cases described in the literatures had a large ventricular septal defect, only few rare cases were reported with intact ventricular septum. From June 1998 to December 2008, cardiac angiography were performed in 10 880 patients with congenital heart disease in our hospital, 47 patients with PTA were diagnosed, one case with tricuspid atresia,hypoplastic right ventricle, and intact ventricular septum was encountered.