11 results on '"Graham E, Quinn"'
Search Results
2. Insulin‐like growth factor‐1 for the prevention or treatment of retinopathy of prematurity
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Jennifer M Trzaski, Katherine W. Herbst, Graham E. Quinn, Marissa F. Gauthier, James I. Hagadorn, and David W. Sink
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Medicine General & Introductory Medical Sciences ,business.industry ,medicine.medical_treatment ,education ,Retinopathy of prematurity ,Bioinformatics ,medicine.disease ,03 medical and health sciences ,Insulin-like growth factor ,0302 clinical medicine ,030225 pediatrics ,030221 ophthalmology & optometry ,medicine ,Pharmacology (medical) ,business - Abstract
This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To compare treatment with insulin‐like growth factor‐1 to no treatment or placebo for the prevention of retinopathy of prematurity or treatment of early retinopathy of prematurity.
- Published
- 2018
3. Reducing Blindness from Retinopathy of Prematurity (ROP) in Argentina Through Collaboration, Advocacy and Policy Implementation
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Alejandro Dinerstein, Luxme Hariharan, Ernesto Alda, Andrea Zin, Alicia M Benítez, Clare Gilbert, Julio Manzitti, Marina Brussa, Patricia Visintin, Celia Lomuto, Adriana Cattaino, Norma Erpen, Liliana Bouzas, Lidia Galina, Ana Quiroga, Frances K. Barg, Joan McLeod-Omawale, Cynthia Magluta, Juan Carlos Silva, Teresa Sepúlveda, Adriana Fandiño, Graham E. Quinn, Silvia Marinaro, and Zulma Ortiz
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medicine.medical_specialty ,Latin Americans ,Argentina ,Legislation ,Blindness ,Child Advocacy ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,Intensive care ,Humans ,Medicine ,Retinopathy of Prematurity ,030212 general & internal medicine ,Cooperative Behavior ,Human resources ,Health policy ,Retrospective Studies ,business.industry ,Health Policy ,Health Plan Implementation ,Infant, Newborn ,Infant ,Retinopathy of prematurity ,Legislature ,Focus Groups ,medicine.disease ,Focus group ,eye diseases ,Family medicine ,business - Abstract
Retinopathy of prematurity (ROP) is a largely avoidable cause of blindness in children worldwide, requiring high-quality neonatal care, early detection and treatment. In middle-income countries throughout Latin America, Eastern Europe and South Asia, there has been a rise in ROP blindness due to a combination of increased survival of preterm infants, resource-scarce medical environments and lack of policies, training and human resources. However, Argentina is an example of country where rates of ROP blindness have declined and ROP programmes have been successfully and effectively embedded within the health and legal system. The purpose of this study is to describe the activities and stakeholders, including Ministry of Health (MoH) and UNICEF, involved in the process, from recognition of an epidemic of ROP blindness to the development of national guidelines, policies and legislation for control. Using a retrospective mixed methods case study design, data on rates of severe ROP was collected from 13 neonatal intensive care units from 1999 to 2012, and on the proportion of children blind from ROP in nine blind schools in seven provinces. Legislative document review, focus group discussions and key informant interviews were conducted with neonatologists, ophthalmologists, neonatal nurses, parents, MoH officials, clinical societies, legislators and UNICEF officials in seven provinces. Results are presented combining the stages heuristic policy framework and Shiffman including: agenda setting, policy formulation, implementation and evaluation. By 2012, ROP had declined as a cause of blindness in children in schools for the blind as had rates of severe ROP needing treatment in the NICUs visited. Multiple factors played a role in reducing blindness from ROP in Argentina and successfully coordinating its control including national advocacy, leadership, legislation and international collaboration. Lessons learned in Argentina can potentially be scaled to other LMICs in Latin America and beyond with further context-specific research.
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- 2018
4. Longitudinal study of the association between thrombocytopenia and retinopathy of prematurity
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Gui-Shuang Ying, Gil Binenbaum, Graham E. Quinn, Jiayan Huang, and Anne K. Jensen
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Male ,Longitudinal study ,medicine.medical_specialty ,Gestational Age ,Platelet Transfusion ,Gastroenterology ,Article ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,030225 pediatrics ,Internal medicine ,Sepsis ,Medicine ,Birth Weight ,Humans ,Platelet ,Retinopathy of Prematurity ,Longitudinal Studies ,Retrospective Studies ,Laser Coagulation ,business.industry ,Platelet Count ,Infant, Newborn ,Infant ,Retinopathy of prematurity ,Retinal ,medicine.disease ,Thrombocytopenia ,eye diseases ,Ophthalmology ,chemistry ,Case-Control Studies ,Pediatrics, Perinatology and Child Health ,030221 ophthalmology & optometry ,Female ,business - Abstract
BACKGROUND: An association between thrombocytopenia and retinopathy of prematurity (ROP) has been suggested but not been studied longitudinally. We sought to identify the time period in postnatal development during which thrombocytopenia and the subsequent development of severe ROP are associated. METHODS: This was a retrospective case–control study of 100 subjects who received laser photocoagulation for type 1 ROP between 2005 and 2009 and 100 controls with no ROP or only stage 1 ROP. The proportions of infants with thrombocytopenia, defined as a serum platelet level of
- Published
- 2018
5. Potential for a paradigm change in the detection of retinopathy of prematurity requiring treatment
- Author
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Richard Wormald, Andrea Zin, Anand Vinekar, Graham E. Quinn, Brian A Darlow, Alistair R. Fielder, Luz Consuelo Zepeda-Romero, Ashok K. Deorari, and Clare Gilbert
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medicine.medical_specialty ,Pediatrics ,Latin Americans ,genetic structures ,Leading Article ,03 medical and health sciences ,0302 clinical medicine ,Neonatal Screening ,030225 pediatrics ,medicine ,Humans ,retinopathy of prematurity ,East Asia ,Intensive care medicine ,Under five mortality ,business.industry ,Incidence (epidemiology) ,Public health ,Infant, Newborn ,Obstetrics and Gynecology ,Retinopathy of prematurity ,General Medicine ,medicine.disease ,eye diseases ,retinal imaging ,Paradigm shift ,Pediatrics, Perinatology and Child Health ,030221 ophthalmology & optometry ,Screening ,Professional association ,business ,Infant, Premature - Abstract
Retinopathy of prematurity (ROP) is a major cause of potentially avoidable blindness in children in the middle-income countries of Latin America and Eastern Europe, and is becoming a public health problem in Asia.1 Indeed, the earlier estimate that there were 50 000–60 000 children worldwide who were blind from ROP2 is a marked underestimate, as a recent systematic review suggests that annually 20 000 infants (uncertainty range 15 500–27 200) became blind or severely visually impairment from ROP worldwide in 2010, with a further 12 300 (8300–18 400) being visually impaired.3 Asia has the highest number, reflecting the rapid expansion of services for preterm infants in the region.4 ,5 The rate of severe visual loss from ROP is 1.8–2.6 times higher per million births in East Asia, the Pacific region, Latin America and Eastern Europe than in high-income countries, reflecting both a higher incidence of severe ROP and inadequate detection and treatment. The recognition that prematurity is a major cause of infant and under five mortality rates6 is leading to rapid expansion of neonatal care in many countries such as India,7 China and Russia, which will put an increasing number of infants at risk of ROP. Visual loss from ROP will continue to increase in low-income and middle-income countries with improving preterm survival rates unless there are dramatic improvements in neonatal care coupled with higher coverage of high-quality services for the detection and treatment of ROP. The vast majority of programmes for the detection and treatment of ROP rely on highly skilled ophthalmologists who visit neonatal units on a weekly basis, or more frequently, to examine infants at risk. Many middle-income countries have criteria for examination, often drawn up collaboratively by professional societies of ophthalmologists and neonatologists, and programmes are becoming integrated into health systems. Many use criteria based on …
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- 2015
6. Thrombocytopenia and retinopathy of prematurity
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Jiayan Huang, Gil Binenbaum, Karen A. Karp, Anne K. Jensen, Graham E. Quinn, and Gui-Shuang Ying
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Pediatrics ,medicine.medical_specialty ,business.industry ,Birth weight ,Confounding ,Postmenstrual Age ,Gestational age ,Retinopathy of prematurity ,Odds ratio ,medicine.disease ,Confidence interval ,Article ,Sepsis ,Ophthalmology ,Internal medicine ,Pediatrics, Perinatology and Child Health ,medicine ,business - Abstract
BACKGROUND: Platelets may act as vascular endothelial growth factor (VEGF) scavengers, possibly limiting neovascularization in retinopathy of prematurity (ROP). The purpose of this study was to investigate the association between thrombocytopenia (platelets150,000/μL) and the development of type 1 ROP. METHODS: This was a retrospective 1:1 matched case-control study. Cases required laser; controls developed no or stage 1 ROP and were matched for birth weight within 100 g and gestational age within 1 week. Most recent platelet count prior to laser (case) and matched postmenstrual age (control) were abstracted. Conditional logistic regression was used. RESULTS: A total of 91 cases and 91 controls were reviewed. Of the cases, 25% had thrombocytopenia; of controls, 13% (P = 0.034; OR = 2.38; 95% CI, 1.04-5.43). Birth weight, gestational age, postmenstrual age, and culture-proven sepsis were not confounders in multivariate analysis. The association was significant for zone 1 (n = 16; OR = 9.00; 95% CI, 1.14-71.0) but not for zone 2 (OR = 1.43; 95% CI, 0.54-3.75) cases and controls. CONCLUSIONS: Thrombocytopenia was associated with type 1 ROP, primarily among infants with zone 1 ROP. This effect may result from disease location or disease timing, as posterior disease occurs at an earlier postmenstrual age. Longitudinal studies are required to further examine the roles of cumulative platelet deficits, thresholds, or critical time windows in the observed association.
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- 2011
7. A Randomized Trial Comparing Bangerter Filters and Patching for the Treatment of Moderate Amblyopia in Children
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Donny W. Suh, Susan A. Cotter, David A. Leske, Graham E. Quinn, Eric R. Crouch, Ingryd J. Lorenzana, Darren L. Hoover, Elizabeth L. Lazar, Roy W. Beck, Michael X. Repka, Jonathan M. Holmes, Robert P. Rutstein, and Dean J. Bonsall
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Male ,Visual acuity ,genetic structures ,Visual Acuity ,Occlusive Dressings ,Amblyopia ,Article ,law.invention ,Randomized controlled trial ,law ,Medicine ,Initial treatment ,Humans ,Initial therapy ,Child ,business.industry ,Treatment burden ,Outcome measures ,eye diseases ,Confidence interval ,Ophthalmology ,Eyeglasses ,Treatment Outcome ,Child, Preschool ,Fixation (visual) ,Optometry ,Female ,medicine.symptom ,Sensory Deprivation ,business - Abstract
To determine whether visual acuity improvement with Bangerter filters is similar to improvement with patching as initial therapy for children with moderate amblyopia.Randomized, clinical trial.We enrolled 186 children, 3 to10 years old, with moderate amblyopia (20/40-20/80).Children were randomly assigned to receive either daily patching or to use a Bangerter filter on the spectacle lens in front of the fellow eye. Study visits were scheduled at 6, 12, 18, and 24 weeks.Visual acuity in amblyopic eyes at 24 weeks.At 24 weeks, amblyopic eye improvement averaged 1.9 lines in the Bangerter group and 2.3 lines in the patching group (difference in mean visual acuities between groups adjusted for baseline acuity = 0.38 line). The upper limit of a 1-sided 95% confidence interval was 0.76 line, which slightly exceeded a prespecified noninferiority limit of0.75 line. Similar percentages of subjects in each group improvedor =3 lines (Bangerter group 38% vs patching group 35%; P = 0.61) or hador =20/25 amblyopic eye acuity (36% vs 31%, respectively; P = 0.86). There was a lower treatment burden in the Bangerter group as measured with the Amblyopia Treatment Index. With Bangerter filters, neither a fixation switch to the amblyopic eye nor induced blurring in the fellow eye to worse than that of the amblyopic eye was required for visual acuity improvement.Because the average difference in visual acuity improvement between Bangerter filters and patching was less than half a line, and there was lower burden of treatment on the child and family, Bangerter filter treatment is a reasonable option to consider for initial treatment of moderate amblyopia.
- Published
- 2010
8. Primary Treatment of Nasolacrimal Duct Obstruction with Balloon Catheter Dilation in Children Less than Four Years Old
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Graham E. Quinn, Bernard D Perla, Todd A. Goldblum, Michael X. Repka, Roy W. Beck, David I. Silbert, B. Michele Melia, Deborah R. Fishman, David K. Wallace, Jonathan M. Holmes, and Danielle L. Chandler
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Male ,medicine.medical_specialty ,Article ,Catheterization ,Lacrimal Duct Obstruction ,medicine ,Humans ,Prospective Studies ,Prospective cohort study ,Fluorescent Dyes ,Nasolacrimal duct ,Lacrimal Apparatus Diseases ,business.industry ,Infant ,medicine.disease ,Balloon catheter dilation ,Surgery ,Ophthalmology ,Treatment Outcome ,medicine.anatomical_structure ,Nasolacrimal duct obstruction ,Multicenter study ,Child, Preschool ,Tears ,Pediatrics, Perinatology and Child Health ,Quality of Life ,Female ,Fluorescein ,Primary treatment ,business ,Nasolacrimal Duct - Abstract
To report the outcome of nasolacrimal duct balloon catheter dilation as the primary treatment of congenital nasolacrimal duct obstruction (NLDO) in children younger than 4 years of age.One hundred two children (151 eyes) ages 12 to48 months (mean, 23 months) at the time of surgery, who previously had not undergone a nasolacrimal surgical procedure and who presented with at least one of the following clinical signs of NLDO--epiphora, increased tear lake, and/or mucous discharge--were enrolled in a prospective, nonrandomized observational multicenter study (20 sites). All children received balloon catheter dilation of the nasolacrimal system of the affected eye(s).Treatment success was defined as no epiphora, increased tear lake, and/or mucous discharge present at the outcome visit at 1 month after surgery. The proportion of eyes treated successfully was 82% (95% CI: 74%-88%). The dye disappearance test at outcome was normal in 105 (73%), indeterminate in 15 (10%), and abnormal in 23 (16%) of the 143 eyes tested.In children 12 to48 months of age, balloon catheter dilation as a primary treatment of NLDO was successful in approximately 80% of cases. Because we did not perform a randomized trial with a comparison group, we were unable to determine how this procedure's success rate compares with that of simple probing or nasolacrimal intubation in this age group.
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- 2008
9. The early treatment for retinopathy of prematurity study: Structural findings at age 2 years
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Edward O'Malley, Scott M. Steidl, George Williams, Brian W. Arthur, Donald Tingley, James D. Reynolds, Richard A. Polin, Bradley V. Davitt, Robert Bergren, Michael X. Repka, John Roarty, Marc Horowitz, Reagan H. Bradford, William V. Good, Joseph Garcia-Prats, Albert M. Maguire, Robert A. Gordon, Sharon F. Freedman, Dottie Inguillo, Susan Bracken, Deborah Alcorn, Kelly A. Hutcheson, Peggy Fishman, Maryann Redford, David Durand, James G. Diamond, O'ine McCabe, Patricia N. Hartsell, James C. MacDonald, Ann M. Holleschau, Sarah K. Jones, Sharon Klamfoth, Linda Stevens, Michael F. Chiang, Cheryl Harris, Donald F. Everett, Y. Trigo, Michael Teske, Earl A. Palmer, Michele L. Parker, Judith Jones, Osode Coki, Soraya Abbasi, Mark W. Preslan, Velma Dobson, Carol R. Taylor, Karl Olsen, Thomas C. Lee, W. A.J. Van Heuven, Sarah MacKinnon, John Connett, Edward F. Donovan, Yesenia Garcia, Terri Mansfield, Charles C. Barr, Kristine Ziemann, David K. Wallace, Maria Castanes, Richard McClead, Steven A. Kane, Robert Peterson, Monte D. Mills, Jonathan M. Holmes, Matthew D. Gearinger, Nancy Dolphin, Rhiannon Johnson, Linda Breuer, Leon Paul Noel, Stephen P. Christiansen, John Baker, Greg Mantych, Mariette Tyedmers, Pat Manatrey, Derek T. Sprunger, Paul Bernstein, Lisa Ogilbee, Mary Anne McCaffree, Ann U. Stout, Elizabeth A. Hynes, Natalie Dweck, Jane Phillips, Gordon Smith, Sally Cook, Graham E. Quinn, Steven Awner, Jerald King, Judith Gancasz, Evelyn A. Paysee, William Keenan, Michelle Quintos, Terri L. Young, Mary Louise Z. Collins, Bernard H. Doft, Betty Tung, Cherylene Behrendt, David A. Plager, Laura B. Enyedi, R. Michael Siatkowski, Joseph M. Miller, Jane C. Edmond, Paul J. Rychwalski, Naval Sondhi, James T. Handa, M. Millicent Peterseim, David G. Hunter, Kenneth P. Cheng, Louis Lobes, Richard P. Golden, Krist Cumming, William L. Gill, George P. Albert, Robert S. Hoffman, Eric Jones, C. Gail Summers, Daniel Neely, Douglas B. Babel, Edmund LaGamma, Kevin Powdrill, David T. Wheeler, R J Hardy, M. Bethany Ball, Donna Ornitz, Jamie G. Koh, Brian J. Forbes, Jeffrey N. Bloom, Deborah S. Neff, Marilyn T. Miller, Leandro Cordero, Don L. Bremer, David Epley, John T. Flynn, Jennifer Shepard, Dale L. Phelps, Susan W. Aucott, Robert E. Leonard, Mary Lou McGregor, Cybil Bean Cassady, Maureen M. Gilmore, Pamela Ann Weber, Antonio Capone, Richard Koty, Argye Hillis, Cynthia H. Cole, Brenda L. MacKinnon, Lawrence M. Kaufman, Brian Nichols, Oscar A. Cruz, Claudia Pedroza, Greg K. Whittington, Gary L. Rogers, David K. Coats, Lori Hutchins Parkman, Ashima Madan, Richard L. Mowery, Richard A. Saunders, Kimberly G. Yen, Beverly Brozanski, Dilip Purohit, Cassandra Horihan, Rajesh Rao, Gregg T. Lueder, Rae R. Fellows, Terri Slagle, Rita Ryan, Michael J. Shapiro, Michael T. Trese, James A. Lemons, Gary David Markowitz, Walter Merriam, Edward Wilson, Gordon Tsai, Maria Genio, Wico W. Lai, Deborah K. VanderVeen, Pamela Donahue, Anthony Fraioli, Richard W. Hertle, Stephanie Davidson, and Michael W. Gaynon
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medicine.medical_specialty ,Side effect ,genetic structures ,Retinopathy Of Prematurity - Pathology - Surgery - Therapy ,medicine.medical_treatment ,Posterior pole ,Cryotherapy ,Cellular and Molecular Neuroscience ,chemistry.chemical_compound ,Ophthalmology ,Retina - Pathology - Surgery ,medicine ,Humans ,Infant, Very Low Birth Weight ,Prospective Studies ,Prospective cohort study ,Retina ,business.industry ,Clinical Science - Extended Report ,Infant, Newborn ,Retinal detachment ,Retinopathy of prematurity ,Retinal ,medicine.disease ,Sensory Systems ,eye diseases ,medicine.anatomical_structure ,Treatment Outcome ,chemistry ,Child, Preschool ,sense organs ,Laser Therapy ,business ,Infant, Premature ,Follow-Up Studies - Abstract
Objective: To determine whether earlier treatment of high-risk, prethreshold retinopathy of prematurity (ROP) improves retinal structural outcome at 2 years of age. Methods: Infants with bilateral high-risk prethreshold ROP had one eye randomly assigned to treatment with peripheral retinal ablation. The fellow eye was managed conventionally, and either treated at threshold ROP or observed if threshold was never reached. In patients with asymmetrical disease, the high-risk, prethreshold eye was randomised to earlier treatment or to conventional management. At 2 years of age, children were examined comprehensively by certified ophthalmologists to determine structural outcomes for their eyes. For the purposes of this study, an unfavourable structural outcome was defined as (1) a posterior retinal fold involving the macula, (2) a retinal detachment involving the macula or (3) retrolental tissue or "mass" obscuring the view of the posterior pole. Results of the 2-year examination were compared with those from the 9 months examination. Results: Data were available on 339 of 374 (90.6%) surviving children. Unfavourable structural outcomes were reduced from 15.4% in conventionally managed eyes to 9.1% in earlier-treated eyes (p = 0.002) at 2 years of age. Ophthalmic side effects (excluding retinal structure) from the ROP or its treatment were similar in the earlier-treated eyes and the conventionally managed eyes. Conclusion: The benefit of earlier treatment of high-risk prethreshold ROP on retinal structure endures to 2 years of age, and is not counterbalanced by any known side effect caused by earlier intervention. Earlier treatment improves the chance for long-term favourable retinal structural outcome in eyes with high-risk prethreshold ROP. Long-term follow-up is planned to determine structural and functional outcomes at 6 years of age., link_to_OA_fulltext
- Published
- 2006
10. ROP and neurodevelopmental disabilities
- Author
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Graham E. Quinn
- Subjects
Male ,medicine.medical_specialty ,Pediatrics ,Blinding ,Gestational Age ,Disease ,Cellular and Molecular Neuroscience ,Intensive care ,Intensive Care Units, Neonatal ,Epidemiology ,medicine ,Humans ,Retinopathy of Prematurity ,business.industry ,Incidence (epidemiology) ,Editorials ,Australia ,Infant, Newborn ,Retinopathy of prematurity ,medicine.disease ,Sensory Systems ,Ophthalmology ,Premature birth ,Intensive Care, Neonatal ,Female ,business ,Infant, Premature ,Retinopathy ,New Zealand - Abstract
To analyse variations in rates of severe retinopathy of prematurity (ROP) among neonatal intensive care units (NICUs) in the Australian and New Zealand Neonatal Network (ANZNN), adjusting for sampling variability and for case mix.25 NICUs were included in the study of 2105 infants born at less than 29 weeks in 1998 and 1999, who survived to 36 weeks post-menstrual age and were examined for ROP. The observed NICU rates of severe ROP were adjusted for case mix using logistic regression on gestation, weight for gestational age and sex, and for sampling variability using shrinkage estimates. The corrected rate in the best 20% of NICUs was identified and NICU variations in rates were compared with those in 2000-1.The overall (unadjusted) rate of severe ROP in the NICUs was 9.6% (interquartile range 5.4-12.8%). After adjusting for both case mix and sampling variability there remained significant variation among the NICUs. 20% of NICUs had a rate of severe ROP/=5.9%. Variation in rates among NICUs showed a similar pattern in both time periods. If the overall network rate was reduced to 5.9%, the 20th centile of the adjusted rates, there would be 79 fewer cases in a 2 year period, in contrast with 26 fewer if rates in the two units with excess rates improved to the average.Considerable variation in rates of severe ROP among NICUs remained after adjustment for case mix and sampling variability. These data will facilitate investigation of potentially better practices associated with a reduced risk of severe ROP.
- Published
- 2005
11. OA1 mutations and deletions in X-linked ocular albinism
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Joseph Wagstaff, Athel Hockey, Paul J. Benke, De-Ann M. Pillers, Mildred L. Kistenmacher, Seth J. Orlow, Arthur W. Grix, Rhonda E. Schnur, Graham E. Quinn, Roberta S. Pagon, Matthew S. Edwards, Hope H. Punnett, Maria A. Musarella, Mei Gao, Kenneth K. Kidd, Kamer Tezcan, Margaret Keller, Alex V. Levin, Jack H. Jung, Richard G. Weleber, Rod W. Nowakowski, Richard A. Lewis, and Penelope A. Wick
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Ocular albinism ,Male ,X Chromosome ,Genetic Linkage ,Nonsense mutation ,DNA Mutational Analysis ,Prenatal diagnosis ,Locus (genetics) ,Biology ,Gene mutation ,Exon ,medicine ,Genetics ,Missense mutation ,Humans ,Genetics(clinical) ,Eye Proteins ,Genetics (clinical) ,X chromosome ,Membrane Glycoproteins ,medicine.disease ,Albinism, Ocular ,eye diseases ,Phenotype ,Mutation ,Ocular albinism type 1 ,Female ,sense organs ,Sequence Analysis ,Gene Deletion ,Genetic counseling ,Research Article - Abstract
X-linked ocular albinism (OA1), Nettleship-Falls type, is characterized by decreased ocular pigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity. Affected males usually demonstrate melanin macroglobules on skin biopsy. We now report results of deletion and mutation screening of the full-length OA1 gene in 29 unrelated North American and Australian X-linked ocular albinism (OA) probands, including five with additional, nonocular phenotypic abnormalities (Schnur et al. 1994). We detected 13 intragenic gene deletions, including 3 of exon 1, 2 of exon 2, 2 of exon 4, and 6 others, which span exons 2-8. Eight new missense mutations were identified, which cluster within exons 1, 2, 3, and 6 in conserved and/or putative transmembrane domains of the protein. There was also a splice acceptor-site mutation, a nonsense mutation, a single base deletion, and a previously reported 17-bp exon 1 deletion. All patients with nonocular phenotypic abnormalities had detectable mutations. In summary, 26 (approximately 90%) of 29 probands had detectable alterations of OA1, thus confirming that OA1 is the major locus for X-linked OA.
- Published
- 1998
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