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The genetic basis of deafness in populations of African descent

Journal of Genetics and Genomics 2017年第6期44卷 285-294页

作者： Jason R.Rudman Rosemary I.Kabahuma Sara E.bressler Yong Feng Susan H.Blanton Denise Yan Xue-Zhong Liu Department of Otolaryngology University of Miami Miller School of Medicine Department of Otorhinolaryngology Steve Biko Academic HospitalUniversity of Pretoria Department of Otolaryngology Xiangya HospitalCentral South University Dr. John T.Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine John P.Hussman Institute for Human Genomics University of Miami Miller School of Medicine

Hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes such as GJB2(gap-junction protein β 2)and GJB6(gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing(NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3α in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost-and timeeffective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.

关键词： Genetic Hearing loss Deafness African

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Does training and experience influence the accuracy of computed tomography colonography interpretation?

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World Journal of Gastroenterology 2014年第6期20卷 1574-1581页

作者： Greg Rosenfeld Yi Tzu Nancy Fu Brendan Quiney Hong Qian Darin Krygier Jacquie Brown Patrick Vos Pari Tiwari Jennifer Telford Brian bressler Robert Enns Division of Gastroenterology Department of Medicine University of British Columbia St. Paul’s Hospital Department of Radiology University of British Columbia St. Paul’s Hospital CHEOS St. Paul’s Hospital Division of Gastroenterology Department of Medicine University of British Columbia Royal Columbian Hospital

AIM: To evaluate the effect of experience on the accuracy rate of computed tomography colonography (CTC) interpretation and patient preferences/satisfaction for CTC and colonoscopy.

关键词： Computed tomography colonography Colonoscopy Colorectal neoplasia Colorectal cancer screening

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百年内衣

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作者： K.W.·布莱斯勒 Karen W.·bressler

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Severe cholestasis due to adalimumab in a Crohn's disease patient

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World Journal of Hepatology 2013年第10期5卷 592-595页

作者： Edward Kim Brian bressler David F Schaeffer Eric M Yoshida Division of Gastroenterology University of British Columbia Department of Pathology and Laboratory Medicine University of British Columbia

Elevation of liver biochemistry has been reported with anti-tumor necrosis factor agents, but overt liver failure rarely reported. Autoimmune hepatitis has been more commonly reported with infliximab than adalimumab(ADA). Our case, however, describes the first reported case of ADA-associated severe cholestatic injury. A 39-year-old female with Crohn's disease developed severe jaundice after initiation of ADA. All serologic tests and imaging studies were normal. Liver biopsy showed prominent pericentral canalicular cholestasis,without features of steatosis or sclerosing cholangitis,consistent with drug-induced cholestasis. The serum total bilirubin peaked at 280 μmol/L, and improvement was seen after 5 wk with eventual normalization of liver enzymes at 10 wk. Our case describes the first reported case of ADA-associated severe cholestatic liver disease and the first histopathologic examination of this adverse drug effect. Clinicians need to be aware of this potential drug-induced liver injury when prescribing this commonly used biologic medication.

关键词： Crohn’s disease Cholestasis Adalimumab Anti-tumor necrosis factor agents Drug-induced liver injury

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从维替泊芬光动力疗法(VIP)试验获得的隐匿性非典型中央凹下脉络膜新生血管的老年性黄斑变性与临床有关的自然病史信息:VIP报道之4

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世界核心医学期刊文摘（眼科学分册） 2006年第10期2卷 10-11页

作者： Pieramici D.J. bressler S.B. Koester J.M. bressler N.M. 王永强 Retina Division Wilmer Eye InstituteJohns Hopkins University School of Medicine550 North BroadwayBaltimoreMD 21205-2002United States Dr.

Objective:To determine whether data from patients with agerelated macular degeneration(AMD)assigned to the placebo group in the Verteporfin in Photodynamic Therapy(VIP)-Trial provide a rationale for continuation or cessation of follow-up of individuals with subfoveal occult choroidal neovascularization(CNV)with no classic lesions,presumed recent disease progression,larger lesion size(> 4 disc areas),and a higher level of visual acuity(approximate Snellen equivalent,≥ 20/50 in the affected eye)in whom no treatment is given at initial ***:In a prospective,noncomparative case series,angiograms of participants assigned to a placebo group who had occult with no classic lesion composition at baseline were reviewed to identify conversion to minimally classic(area of classic CNV > 0% but < 50% of the entire lesion area)or predominantly classic(area of classic CNV ≥ 50% of the entire lesion area)***:Of the 114 patients with AMD assigned to the placebo group,89 were judged to have occult with no classic lesion composition at baseline in the study eye when fluorescein angiograms were reviewed in late 2001 for this *** 24 months,7(8%)of the 89 patients had lesions that converted to predominantly classic composition,and 41(46%)had minimally classic *** the 24 patients with a baseline visual acuity better than 20/50-1 and lesion size greater than 4 disc areas whose lesions did not convert to predominantly classic composition,the visual acuity of 18(75%)dropped below 20/*** of these 18 continued to have occult with no classic CNV with a visual acuity of 20/100 or better and had a lesion size no greater than 9 disc areas at the time that visual acuity dropped below 20/***:Continued monitoring,rather than cessation of follow-up,is recommended for patients with occult with no classic lesions,similar to those patients enrolled in the VIP Trial who did not initially receive treatment when they had relatively large lesion

关键词：老年性黄斑变性 VIP 光动力疗法脉络膜新生血管自然病史维替泊芬中央凹隐匿性视盘面积血

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FOCUS: Future of fecal calprotectin utility study in inflammatory bowel disease

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World Journal of Gastroenterology 2016年第36期22卷 8211-8218页

作者： Greg Rosenfeld Astrid-Jane Greenup Andrew Round Oliver Takach Lawrence Halparin Abid Saadeddin Jin Kee Ho Terry Lee Robert Enns Brian bressler Department of Medicine Division of Gastroenterology St. Paul’s Hospital University of British Columbia Vancouver Department of Medicine Division of Gastroenterology Prince George Regional Hospital University of British Columbia Department of Medicine Division of Gastroenterology Lion’s Gate Hospital University of British Columbia Centre for Health Evaluation and Outcome Sciences St Paul’s Hospital

AIM To evaluate the perspective of gastroenterologists regarding the impact of fecal calprotectin(FC) on the management of patients with inflammatory bowel disease(IBD).METHODS Patients with known IBD or symptoms suggestive of IBD for whom the physician identified that FC would be clinically useful were recruited. Physicians completed an online "pre survey" outlining their rationale for the test. After receipt of the test results, the physicians completed an online "post survey" to portray their perceived impact of the test result on patient management. Clinical outcomes for a subset of patients with follow-up data available beyond the completion of the "post survey" were collected and *** Of 373 test kits distributed, 290 were returned, resulting in 279 fully completed surveys. One hundred and ninety patients were known to have IBD; 147(77%) with Crohn's Disease, 43(21%) Ulcerative Colitis and 5(2%) IBD unclassified. Indications for FC testing included: 90(32.2%) to differentiate a new diagnosis of IBD from Irritable Bowel Syndrome(IBS), 85(30.5%) to distinguish symptoms of IBS from IBD in those known to have IBD and 104(37.2%) as an objective measure of inflammation. FC levels resulted in a change in management 51.3%(143/279) of the time which included a significant reduction in the number of colonoscopies(118) performed(P < 0.001). Overall, 97.5%(272/279) of the time, the physicians found the test sufficiently useful that they would order it again in similar situations. Follow-up data was available for 172 patients with further support for the clinical utility of FC *** The FC test effected a change in management 51.3% of the time and receipt of the result was associated with a reduction in the number of colonoscopies performed.

关键词： Inflammatory bowel disease Biomarkers Fecal calprotectin Colonoscopy Physician perspective

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超敏视锐度分析仪PHP检测脉络膜新生血管的研究

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世界核心医学期刊文摘(眼科学分册) 2006年第4期 48-49页

作者： bressler N.M. Meditec C.Z. 喻平平 Dr.Wilmer Eye Institute Department of Ophthalmology Johns Hopkins University School of Medicine 550 North Broadway Baltimore MD 21205-2002 United States

Purpose: To assess the ability of the Preferential Hyperacuity Perimeter (PreView PHP; Carl Zeiss Meditec, Dublin, CA) to detect recent-onset choroidal neovascularization (CNV) resulting from age-related macular degeneration (AMD) and to differentiate it from an intermediate stage of AMD. Design: Prospective, comparative, concurrent, nonrandomized, multicenter study. Participants: Eligible participants’study eyes had a corrected visual acuity of 20/160 or better and either untreated CNV from AMD diagnosed within the last 60 days or an intermediate stage of AMD. Methods: After obtaining consent, visual acuity with habitual correction, masked PHP testing, stereoscopic color fundus photography, and fluorescein angiography were performed. Photographs and angiograms were evaluated by graders masked to diagnosis and PHP results. The reading center’s diagnosis determined if the patient was categorized as having intermediate AMD or neovascular AMD. Main Outcome Measures: A successful study outcome was defined a priori as a sensitivity of at least 80%and a speci-ficity of at least 80%. Results: Of 185 patients who gave consent to be enrolled, 11 (6%) had PHP results judged to be unreliable. An additional 52were not included because they did not meet all eligibility criteria. Of the remaining 122 patients, 57 had an intermediate stage of AMD and 65 had neovascular AMD. The sensitivity to detect newly diagnosed CNV using PHP testing was 82%(95%confidence interval [CI], 70%-90%). The specificity to differentiate newly diagnosed CNV from the intermediate stage of AMD using PHP testing was 88%(95%CI, 76%-95%). Conclusions: Preferential Hyperacuity Peri-meter testing can detect recent-onset CNV resulting from AMD and can differentiate it from an intermediate stage of AMD with high sensitivity and specificity. These data suggest that monitoring with PHP should detect most cases of CNV of recent onset with few false-positive results at a stage when treatment usually would be benefic

关键词：视锐度脉络膜新生血管 PHP 分析仪超敏

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糖尿病患者哌加他尼治疗后视网膜新生血管的变化

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世界核心医学期刊文摘（眼科学分册） 2006年第5期2卷 50-51页

作者： bressler N. M Altaweel M 王静波(译) 550 North Broadway Baltimore MD 21205 -2002 United States 不详

Objective: To study effects of intravitreal pegaptanib (Macugen) on retinal neovascularization. Design: Retrospective analysis of a randomized clinical trial. Participants, Intervention, and Main Outcome Measures: Individuals with retinal neovascularization identified from a multicenter, randomized, controlled trial evaluating pegaptanib for treatment of diabetic macular edema, with a best-corrected visual acuity letter score between 68 and 25 (approximate Snellen equivalent between 20/50 and 20/320) and receiving a sham injection or intravitreal pegaptanib (0.3 mg, 1 mg, 3 mg) administered at study entry, week 6, and week 12, with additional injections and/or focal photocoagulation as needed during the ensuing 18 weeks, up to a maximum of 6 pegaptanib/sham therapies, were evaluated. Scatter panretinal photocoagulation before study enrollment was permitted, but not within 6 months of randomization and study entry. Changes in retinal neovascularization were assessed on fundus photographs and fluorescein angiograms graded at a reading center in a masked fashion. Results: Of 172 participants, 19 had retinal neovascularization in the study eye at baseline. Excluding 1 who had scatter photocoagulation 13 days before randomization and 2 with no follow-up photographs, 1 of the remaining 16 subjects had panretinal photocoagulation during study follow-up. Of these 16 subjects, 8 of 13 (62%) in a pegaptanib treatment group (including the one receiving panretinal photocoagulation), 0 of 3 in the sham group, and 0 of 4 fellow (nonstudy) eyes showed either regression of neovascularization on fundus photographs or regression or absence of fluorescein leakage from neovascularization (or both) at 36 weeks. In 3 of 8 with regression, neovascularization progressed at week 52 after cessation of pegaptanib at week 30. Conclusions: Most subjects with retinal neovascularization at baseline assigned to pegaptanib showed regression of neovascularization by week 36. These findings suggest a

关键词：视网膜新生血管糖尿病患者治疗后多中心随机对照试验玻璃体腔内注射视网膜激光光凝糖尿病性黄斑水肿临床试验分析荧光血管造影玻璃体注射

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维替泊芬治疗眼组织胞浆霉菌病的光动力学疗法:2年的无对照开放性跟踪研究

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世界核心医学期刊文摘（眼科学分册） 2005年第2期1卷 54-55页

作者： Rosenfeld P.J. Saperstein D.A. bressler N.M. 黎黎 Bascom Palmer Eye Institute Miami FL United States Dr.

Objective To evaluate the safety, effect on visual function, and fluorescein a ngiographic appearance of subfoveal choroidal neovascularization (CNV) through 2 years after photodynamic therapy with verteporfin (Visudyne; Novartis AG, Basel , Switzerland) in patients with ocular histoplasmosis syndrome (OHS). Design Ope n-label, 3-center, uncontrolled clinical study. Participants Ocular histoplasm osis syndrome patients with subfoveal CNV (N=26) with a greatest linear dimensio n no larger than 5400 μm with classic or occult CNV extending under the geometr ic center of the fovea, and best-corrected visual acuity letter score of approx imately 20/40 to 20/200. Methods The methods were similar to those described in the 1-year results with follow-up examinations every 3 months continuing throu gh the second year. During the second year, additional therapy was recommended i f fluorescein angiography showed leakage at a scheduled visit. Main outcome meas urements Visual function measurements included the changes from baseline in visu al acuity and contrast sensitivity scores. Lesion size and leakage from classic and occult CNV were assessed at month 12 and month 24. Safety assessments also w ere made. Results A 24-month examination was completed in 22 of the 26 enrolled participants (85%). At the 24-month examination, median improvement from base line in visual acuity of the 22 patients evaluated was 6 letters; median contras t sensitivity improved by 3.5 letters. At the 24-month examination, 10 patients (45%) gained 7 or more letters of visual acuity from baseline, whereas 4 patie nts (18%) lost 8 or more letters, including 2 patients (9%) who lost at least 15 letters. There was absence of fluorescein angiographic leakage from classic C NV in 17 of the 20 evaluable lesions (85%), and leakage from occult CNV was abs ent in all eyes. No serious ocular adverse events were reported, and no serious systemic event was considered to be associated with treatment. Conclusions Medi

关键词：光动力学疗法眼组织维替泊芬中心凹脉络膜新生血管对比敏感度视功能基线水平随访检查月检查

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47岁男性患者视网膜中央静脉阻塞后的脉络膜新生血管膜

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美国医学会眼科杂志（中文版） 2005年第2期17卷 109-111页

作者： David A. DiLoreto Morton F. Goldberg Neil M. bressler 王建民（译）马景学（校）

1例46岁白人男性患者被转诊于马里兰州巴尔地摩市Wilmer眼科研究所，对其患有的黄斑水肿进行诊治。5个月前，转诊眼科医生通过眼底照像和眼底荧光血管造影检查，诊断他的右眼患有无灌注性的视网膜中央静脉阻塞（CVO）（图1）。患者有高... 详细信息

1例46岁白人男性患者被转诊于马里兰州巴尔地摩市Wilmer眼科研究所，对其患有的黄斑水肿进行诊治。5个月前，转诊眼科医生通过眼底照像和眼底荧光血管造影检查，诊断他的右眼患有无灌注性的视网膜中央静脉阻塞（CVO）（图1）。患者有高胆固醇血症的病史，服用的药物包括阿司匹林和降脂药物。

关键词：视网膜中央静脉阻塞脉络膜新生血管膜男性患者眼底荧光血管造影检查高胆固醇血症降脂药物眼科研究所黄斑水肿眼底照像眼科医生

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