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Association of LOXL1 gene with Finnish exfoliation syndrome patients.

https://arctichealth.org/en/permalink/ahliterature151709
Source
J Hum Genet. 2009 May;54(5):289-97
Publication Type
Article
Date
May-2009
Author
Susanna Lemmelä
Eva Forsman
Päivi Onkamo
Hanna Nurmi
Hannele Laivuori
Tero Kivelä
Päivi Puska
Martin Heger
Aldur Eriksson
Henrik Forsius
Irma Järvelä
Author Affiliation
Department of Medical Genetics, University of Helsinki, Helsinki, Finland. susanna.lemmela@helsinki.fi
Source
J Hum Genet. 2009 May;54(5):289-97
Date
May-2009
Language
English
Publication Type
Article
Keywords
Aged, 80 and over
Alleles
Amino Acid Oxidoreductases - genetics
Case-Control Studies
Exfoliation Syndrome - complications - genetics
Family
Finland - ethnology
Genetic Linkage
Genetic Loci - genetics
Genetic Predisposition to Disease
Glaucoma, Open-Angle - complications - genetics
Haplotypes - genetics
Humans
Polymorphism, Single Nucleotide - genetics
Abstract
In this study, three single-nucleotide polymorphisms (SNPs) on the lysyl oxidase-like 1 (LOXL1) gene associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) were investigated in the Finnish population. A case-control study of 59 sporadic patients with XFS, 82 with XFG, 71 with primary open-angle glaucoma (POAG) and 26 individuals without these disorders from the southern Finnish population, and a family study of an extended family with 28 patients with XFS or XFG and 92 unaffected relatives from Kökar islands, Southwestern Finnish archipelago, were conducted. Anonymous blood donors (n=404) were studied as population-based controls. Three SNPs, rs1048661 (R141L), rs3825942 (G153D) and rs2165241, of the LOXL1 gene were genotyped by PCR sequencing. Association and linkage analyses were carried out. In both case-control and family materials, significant association for allele G of rs1048661 (P=2.65 x 10(-5); P=0.0007), allele G of rs3825942 (P=2.24 x 10(-8); P=0.49) and allele T of rs2165241 (P=2.62 x 10(-13); P
PubMed ID
19343041 View in PubMed
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The collaborative ocular melanoma study.

https://arctichealth.org/en/permalink/ahliterature175762
Source
Ophthalmol Clin North Am. 2005 Mar;18(1):129-42, ix
Publication Type
Article
Date
Mar-2005
Author
Arun D Singh
Tero Kivelä
Author Affiliation
Department of Ophthalmic Oncology, Cole Eye Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA. singha@ccf.org
Source
Ophthalmol Clin North Am. 2005 Mar;18(1):129-42, ix
Date
Mar-2005
Language
English
Publication Type
Article
Keywords
Brachytherapy - methods
Canada
Decision Making
Eye Enucleation - methods
Eye Neoplasms - pathology - therapy
Humans
Multicenter Studies as Topic
Neoplasm Staging
Prognosis
Randomized Controlled Trials as Topic
Treatment Outcome
United States
Abstract
This review provides a summary of the main objectives, significant design features, and major findings and achievements of the Collaborative Ocular Melanoma Study (COMS). It has been written by two ophthalmic oncologists who were not part of the COMS study group; therefore, it represents an extramural view of the trial to supplement summaries published by the COMS investigators. Because the randomized design of the COMS was unique, no attempt is made to make any comparison with the results of previous non-controlled studies.
PubMed ID
15763198 View in PubMed
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Conjunctival melanoma: is it increasing in the United States?

https://arctichealth.org/en/permalink/ahliterature182592
Source
Am J Ophthalmol. 2003 Dec;136(6):1189-90; author reply 1190
Publication Type
Article
Date
Dec-2003
Author
Seppo Tuomaala
Tero Kivelä
Source
Am J Ophthalmol. 2003 Dec;136(6):1189-90; author reply 1190
Date
Dec-2003
Language
English
Publication Type
Article
Keywords
Conjunctival Neoplasms - epidemiology
Finland - epidemiology
Humans
Incidence
Melanoma - epidemiology
Sex Distribution
United States - epidemiology
Notes
Comment On: Am J Ophthalmol. 2003 Jun;135(6):800-612788119
PubMed ID
14644247 View in PubMed
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Digital imaging in differential diagnosis of small choroidal melanoma.

https://arctichealth.org/en/permalink/ahliterature169604
Source
Graefes Arch Clin Exp Ophthalmol. 2006 Dec;244(12):1581-90
Publication Type
Article
Date
Dec-2006
Author
Jukka M Saari
Tero Kivelä
Paula Summanen
Kari Nummelin
K Matti Saari
Author Affiliation
Department of Ophthalmology, Helsinki University Central Hospital, Finland. jzsaari@medscape.com
Source
Graefes Arch Clin Exp Ophthalmol. 2006 Dec;244(12):1581-90
Date
Dec-2006
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Choroid Neoplasms - diagnosis - epidemiology
Diagnosis, Differential
Double-Blind Method
Female
Finland - epidemiology
Fluorescein Angiography
Fundus Oculi
Humans
Image Processing, Computer-Assisted
Male
Melanoma - diagnosis - epidemiology
Melanoma, Amelanotic - diagnosis - epidemiology
Middle Aged
Nevus, Pigmented - diagnosis - epidemiology
Ophthalmoscopy
Reproducibility of Results
Sensitivity and specificity
Subtraction Technique
Abstract
To assess the role of digital imaging and a new subtraction method for differential diagnosis of choroidal nevus and small choroidal melanoma.
Of 241 consecutive patients referred to a tertiary referral center for suspected choroidal melanoma, 110 who underwent digital imaging of the ocular fundus were eligible for this study. Digital color, red-free and red light retinal images were evaluated in a randomized and masked manner and by the subtraction method for diagnosis of the fundus lesion. The reference standard was based on the combined results of ophthalmological examination, including mydriatic ophthalmoscopy, B scan ultrasonography, digital imaging and fluorescein angiography of the ocular fundus.
Comparative use of digital color, red-free and red light imaging had 85.7% (95%CI 42.1-99.6) sensitivity, 99.0% (95%CI 94.7-99.9) specificity and 98.2% (95%CI 93.6-99.8) exact agreement versus reference standard in differentiation of small choroidal melanoma from pseudomelanoma. Direct comparison between use of digital images and the reference standard showed excellent agreement in detecting small choroidal melanoma from suspected choroidal lesions (K 0.847; 95%CI 0.639-1.0). The subtraction method was useful to show growth in four of 94 melanocytic choroidal tumors. The mean annual incidence of choroidal melanoma in Southwest Finland was 0.80 per 100.000 population. The most frequent choroidal pseudomelanomas were choroidal melanotic and amelanotic nevi, disciform lesions, congenital hypertrophy of the retinal pigment epithelium, and circumscribed choroidal hemangioma.
Combined use of digital color, red-free and red light imaging was a suitable adjunct in differentiation of small choroidal melanoma from different pseudomelanomas. The subtraction method may reveal early growth of the melanotic choroidal tumors.
PubMed ID
16636839 View in PubMed
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Exfoliation syndrome in Nordic countries: a comparative histopathological study of Danish and Finnish eyes with absolute glaucoma and uveal melanoma.

https://arctichealth.org/en/permalink/ahliterature16545
Source
Acta Ophthalmol Scand. 2005 Dec;83(6):711-5
Publication Type
Article
Date
Dec-2005
Author
Ghassan Ayish Alyahya
Jaana Hietanen
Steffen Heegaard
Tero Kivelä
Jan Ulrik Prause
Author Affiliation
Eye Pathology Institute, University of Copenhagen, Copenhagen, Denmark. gaja@eyepath.ku.dk
Source
Acta Ophthalmol Scand. 2005 Dec;83(6):711-5
Date
Dec-2005
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age Distribution
Aged
Aged, 80 and over
Comparative Study
Denmark - epidemiology
Exfoliation Syndrome - epidemiology - pathology
Eye Enucleation
Female
Finland - epidemiology
Glaucoma - complications - epidemiology
Humans
Male
Melanoma - complications - epidemiology
Middle Aged
Prevalence
Research Support, Non-U.S. Gov't
Sex Distribution
Uveal Neoplasms - complications - epidemiology
Abstract
PURPOSE: To compare the frequency of exfoliation syndrome (EXS) in Denmark and Finland in eyes enucleated for absolute glaucoma and uveal melanoma and to correlate these results to reported clinical prevalence rates. METHODS: The material consisted of 304 and 39 eyes consecutively removed because of absolute glaucoma and of 240 and 149 eyes enucleated because of uveal melanoma in Denmark and Finland, respectively. Histological sections of all eyes were stained with haematoxylin-eosin and periodic acid-Schiff and examined under a light microscope for EXS. Diagnosis of EXS was made by the consensus of the investigators. RESULTS: In absolute glaucoma eyes, EXS was observed in 12 out of 304 eyes (3.9%, 95% CI 2.1-6.8) in Denmark, and in 16 out of 39 eyes (41%, 95% CI 26-58) in Finland (p
PubMed ID
16396649 View in PubMed
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Exome and regulatory element sequencing of neuromyelitis optica patients.

https://arctichealth.org/en/permalink/ahliterature270963
Source
J Neuroimmunol. 2015 Dec 15;289:139-42
Publication Type
Article
Date
Dec-15-2015
Author
Mika Siuko
Miko Valori
Tero Kivelä
Kirsi Setälä
Andreanne Morin
Tony Kwan
Tomi Pastinen
Pentti Tienari
Source
J Neuroimmunol. 2015 Dec 15;289:139-42
Date
Dec-15-2015
Language
English
Publication Type
Article
Keywords
Adult
Aquaporin 4 - cerebrospinal fluid
Exome - genetics
Female
Finland
Histocompatibility Antigens - genetics
Humans
Male
Middle Aged
Mutation, Missense - genetics
Neuromyelitis Optica - cerebrospinal fluid - genetics
Abstract
Neuromyelitis optica (NMO) is rare in Finland. To identify rare genetic variants contributing to NMO risk we performed whole exome, HLA and regulatory region sequencing in all ascertained cases during 2005-2013 (n=5) in a Southern Finnish population of 1.6 million. There were no rare variant shared by all patients. Four missense variants were shared by two patients in C3ORF20, PDZD2, C5ORF47 and ZNF606. Another PDZD2 variant was found in a third patient. In the non-coding sequence two predictably functional rare variants were shared by two patients. Our results do not support a homogeneous genetic etiology of NMO in Finland.
PubMed ID
26616883 View in PubMed
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Frequency of age-related macular degeneration among patients with primary chronic open-angle glaucoma and exfoliation glaucoma.

https://arctichealth.org/en/permalink/ahliterature156772
Source
Acta Ophthalmol. 2008 Sep;86(6):697-8
Publication Type
Article
Date
Sep-2008

Frequency of systemic vascular diseases in patients with primary open-angle glaucoma and exfoliation glaucoma.

https://arctichealth.org/en/permalink/ahliterature157544
Source
Acta Ophthalmol. 2008 Sep;86(6):598-602
Publication Type
Article
Date
Sep-2008
Author
Ahti Tarkkanen
Antti Reunanen
Tero Kivelä
Author Affiliation
Department of Ophthalmology, Helsinki University Central Hospital, Finland. ahti.tarkkanen@kolumbus.fi
Source
Acta Ophthalmol. 2008 Sep;86(6):598-602
Date
Sep-2008
Language
English
Publication Type
Article
Keywords
Aged
Blood pressure
Databases, Factual
Exfoliation Syndrome - diagnosis - epidemiology
Female
Finland - epidemiology
Glaucoma, Open-Angle - diagnosis - epidemiology
Health Surveys
Humans
Hypertension - diagnosis - epidemiology
Intraocular Pressure
Male
Myocardial Ischemia - diagnosis - epidemiology
National Health Programs - statistics & numerical data
Odds Ratio
Registries
Abstract
Abnormal fibrils can be identified by electron microscopy in the heart, lung, liver, kidney, cerebral meninges and other tissues of patients with exfoliation syndrome (ES). However, a clinical association of ES with arterial hypertension (HT), ischaemic heart disease (IHD), cerebrovascular accidents and aneurysm of the abdominal aorta is debated. We conducted a national registry-based survey to further assess the first two of these associations.
We reviewed the records of 519 consecutive patients to whom the Social Insurance Institution of Finland had granted free medication for glaucoma according to national common criteria. The glaucoma was classified either as primary open-angle glaucoma (POAG) or exfoliation glaucoma (EG), masked to any systemic diseases; 20 patients with other types of glaucoma were excluded from the survey. Masked to the type of glaucoma, the registry provided data on free medication similarly granted for HT, IHD and diabetes mellitus (DM), a known modifier of risk for cardiovascular disease. Data were analysed by logistic regression, modelling age, gender and DM as confounders.
The control group of 344 patients with POAG was comparable as regards gender with the study group of 155 patients with EG, but patients with POAG were both younger (mean 69 versus 73 years; P
PubMed ID
18435818 View in PubMed
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Incidence of retinoblastoma from 1958 to 1998 in Northern Europe: advantages of birth cohort analysis.

https://arctichealth.org/en/permalink/ahliterature17670
Source
Ophthalmology. 2004 Jun;111(6):1228-32
Publication Type
Article
Date
Jun-2004
Author
Stefan Seregard
Göran Lundell
Helena Svedberg
Tero Kivelä
Author Affiliation
Ophthalmic Pathology and Oncology Service, St. Erik's Eye Hospital, Stockholm, Sweden.
Source
Ophthalmology. 2004 Jun;111(6):1228-32
Date
Jun-2004
Language
English
Publication Type
Article
Keywords
Adolescent
Child
Child, Preschool
Cohort Effect
Cohort Studies
Finland - epidemiology
Humans
Incidence
Infant
Infant, Newborn
Registries
Retinal Neoplasms - epidemiology - pathology
Retinoblastoma - epidemiology - pathology
Retrospective Studies
Sweden - epidemiology
Abstract
PURPOSE: To assess change in incidence of retinoblastoma in Northern Europe and to compare commonly used methods for calculating its incidence against birth cohort analysis. DESIGN: Retrospective cohort study. PARTICIPANTS: Individual and pooled data of 291 Swedish and 174 Finnish children diagnosed with retinoblastoma between 1958 and 1998. MAIN OUTCOME MEASURES: Incidence per 1 million children younger than 5 years of age (37 812 035 person- years at risk) and per 100 000 live births (7 152 265 live-born children at risk). METHODS: Data were from Swedish and Finnish Cancer Registries and corresponding national referral centers for retinoblastoma. Incidence was calculated both by standard analysis per children younger than 5 years of age and per live births, and by birth cohort analysis. Curves were smoothed with robust, locally weighted regression. Linear regression was used to fit pooled data. RESULTS: The number of new retinoblastoma cases per year ranged from 0 to 13 (1-13 per birth cohort) in Sweden and from 0 to 10 in Finland (1-9 per birth cohort). The mean incidence was 11.8 (95% confidence interval [CI], 10.5-13.1) and 11.2 (95% CI, 9.4-13.0) per 1 million children younger than 5 years of age in Sweden and Finland, respectively, and 6.7 (95% CI, 5.9-7.5) and 6.2 (95% CI, 5.3-7.2) per 100 000 live births, respectively. Analysis based on year of diagnosis suggested moderate increase in incidence since 1990, but by birth cohort analysis, incidence rates were stable for both countries. The pooled incidence by birth cohort was 6.0 (95% CI, 5.4-6.6) per 100 000 live births, corresponding to 1 in 16 642 (95% CI, 15 105-18 528) live births. CONCLUSIONS: The data suggest that the incidence of retinoblastoma is stable in Northern Europe. Analysis based on birth cohort is recommended for future epidemiologic studies, because it minimizes the effect of variable age at diagnosis of this developmental cancer and results in less variable incidence rates than standard analysis based on year of diagnosis.
PubMed ID
15177976 View in PubMed
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John G. Lindberg and the discovery of exfoliation syndrome.

https://arctichealth.org/en/permalink/ahliterature50772
Source
Acta Ophthalmol Scand. 2002 Apr;80(2):151-4
Publication Type
Article
Date
Apr-2002
Author
Ahti Tarkkanen
Tero Kivelä
Author Affiliation
Helsinki University Eye Hospital, Helsinki, Finland. ahti.tarkkanen@kolumbus.fi
Source
Acta Ophthalmol Scand. 2002 Apr;80(2):151-4
Date
Apr-2002
Language
English
Publication Type
Article
Keywords
Exfoliation Syndrome - history
Finland
History, 20th Century
Ophthalmology - history
Portraits
Abstract
John G. Lindberg, a young Finnish ophthalmology resident, started a research project in 1914 aiming at an academic dissertation. His plan was to elucidate Axenfeld's observations on iris changes in senile eyes. Axenfeld had described two types of degeneration of the iris: a hyaline degeneration of the iris pupillary zone causing poor pupillary dilatation with mydriatics and an atrophy of the iris pigment epithelium at the pupillary border. For his research Lindberg had to construct a slit-lamp biomicroscope by studying Gullstrand's monograph on the matter; slit-lamp biomicroscopes were not commercially available at that time. A Sach's lamp was used for transillumination of the iris. While conducting his research Lindberg paid attention to greyish flakes and fringes at the pupillary border. He also noted how this strange material formed a membrane on the anterior lens surface. Documentation was made by skillful hand drawings. The new phenomenon was found to be as common in cataract patients as in non-cataractous controls older than 55 years. The phenomenon was observed in 50% of glaucoma patients. Age was the decisive factor; the phenomenon was more prevalent with advancing age. Lindberg published his results as a thesis at the University of Helsinki in 1917. When attending a Nordic Congress of Ophthalmology in 1921, Lindberg met Norwegian ophthalmologist, Birger Malling, and gave him his thesis and explained the new findings. In 1920-21 Lindberg worked at Axenfeld's clinic in Freiburg, Germany. During this period he met in Basel, Switzerland, a Swiss ophthalmologist, Alfred Vogt. He told Vogt about his research and provided him with copies of his thesis. Both Malling and Vogt published papers on exfoliation in 1923 without referring to Lindberg's work. Lindberg did not, however, interfere with these papers. Thus Lindberg was forgotten by his contemporaries as a scientist. However, his main conclusions on exfoliation are still valid today. The life of this remarkable ophthalmologist is described in the present paper.
PubMed ID
11952480 View in PubMed
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20 records – page 1 of 2.