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James P Burke

Publications and source records attributed to James P Burke.

At least 19 recordsLinked to original sources
PubMed2007

The risk of glaucoma in pseudoexfoliation syndrome.

PURPOSE: To determine the conversion rate of pseudoexfoliation syndrome (PEX) to pseudoexfoliative glaucoma or treated ocular hypertension. METHODS: Retrospective community-based study of newly diagnosed cases of PEX syndrome in all residents of Olmsted County, Minnesota between 1976 and 1991. The end point was considered the initiation of therapy, which included patients with glaucoma (optic disc damage or visual field defects), or with elevated intraocular pressure (IOP) >21 mm Hg in the presence of risk factors; the subsequent development of damage in the latter group was also determined. RESULTS: Two hundred fifty-five patients (318 eyes) had newly diagnosed PEX over the 15-year interval. Mean age was 73+/-10 years; 78% (199/255) were female. Of all PEX patients, 16% were placed on therapy at the time of initial diagnosis of PEX. In the remaining PEX patients, the probability of being placed on therapy was 44% at 15 years. Bilateral PEX was present in 25% at initial diagnosis and developed in another 29% by 15 years. Of those not placed on therapy, 16% (23/142) had IOP increase 5+ mm Hg during follow-up, with 11% (16/142) reaching 22 mm Hg or more. The strongest risk factors for converting to therapy were IOP at initial diagnosis of PEX and bilateral involvement. CONCLUSIONS: In a geographically defined population of PEX patients, 16% required treatment upon presentation. Of the remaining PEX patients, 44% received therapy over the next 15 years.

Aged↗
PubMed2006

Incidence and types of childhood esotropia: a population-based study.

OBJECTIVE: To describe the incidence and types of childhood esotropia in a defined population. DESIGN: Retrospective population-based cohort. PARTICIPANTS: All pediatric (<19 years of age) residents of Olmsted County, Minnesota, diagnosed with an esodeviation (> or =10 prism diopters) from January 1, 1985, through December 31, 1994. METHODS: The medical records of all potential patients identified by the resources of the Rochester Epidemiology Project were reviewed. MAIN OUTCOME MEASURES: Incidence and types of childhood esotropia. RESULTS: Three hundred eighty-five cases of childhood esotropia were identified during the 10-year period, yielding an annual age- and gender-adjusted incidence of 111.0 (95% confidence interval, 99.9-122.1) per 100,000 patients younger than 19 years of age. This rate corresponds to a cumulative prevalence of approximately 2.0% of all children younger than 6 years, with a significant decrease in older ages (P<0.0001). Of the 385 study children, the specific forms and percentages of esotropia diagnosed were as follows: fully accommodative, 140 (36.4%); acquired nonaccommodative, 64 (16.6%); esotropia associated with an abnormal central nervous system, 44 (11.4%); partially accommodative, 39 (10.1%); congenital, 31 (8.1%); sensory, 25 (6.5%); paralytic, 25 (6.5%); undetermined, 13 (3.4%); and other, 4 (1.0%). CONCLUSIONS: The incidence of childhood esotropia from this self-referred population-based study is comparable with prevalence rates reported among Western populations. Esotropia is most common during the first decade of life, with the accommodative and acquired nonaccommodative forms occurring most frequently. The congenital, sensory, and paralytic forms of childhood esotropia were less common in this population.

Adolescent↗
PubMed2006

Risk of retinal detachment after cataract extraction, 1980-2004: a population-based study.

PURPOSE: To estimate the long-term cumulative risk of retinal detachment (RD) after cataract extraction (CE). DESIGN: Retrospective cohort study and nested case-control study. PARTICIPANTS: All residents of Olmsted County, Minnesota who had CE from 1980 through 2004 (10 256 CEs in 7137 residents) and were diagnosed subsequently with RD in the same period. Two controls chosen from the primary cataract surgery cohort were matched to each RD case by age, gender, and duration of follow-up. METHODS: Cases were identified through the Rochester Epidemiology Project databases. Records were reviewed to confirm case status and ascertain risk factor information. The observed probability of RD after CE was estimated using the Kaplan-Meier method. A cumulative probability ratio of RD after CE was determined by comparing the observed probability of RD and the expected probability of RD in residents without CE. Logistic regression models assessed differences between cases and controls. MAIN OUTCOME MEASURES: Probability of and risk factors associated with RD after CE. RESULTS: Eighty-two cases of RD were identified. The cumulative probability of RD increased in a nearly linear manner over the 25-year study period. At 1, 5, 10, 15, and 20 years after extracapsular CE (ECCE) and phacoemulsification, cumulative probabilities of RD were 0.27%, 0.71%, 1.23%, 1.58%, and 1.79%, respectively. There was no significant difference in the probability of RD after ECCE when compared with phacoemulsification (P = 0.13). The cumulative probability ratio of RD at 20 years after ECCE and phacoemulsification remained 4.0-fold (95% confidence interval, 2.6-5.4) higher than would be expected in a similar group of residents not undergoing CE (P<0.001). Male gender, younger age, myopia, increased axial length, and posterior capsular tear were associated significantly with RD (P<0.01). CONCLUSIONS: The cumulative risk of RD after ECCE and phacoemulsification is increased for up to 20 years after surgery.

Adolescent↗
PubMed2006

Incidence and types of childhood hypertropia: a population-based study.

OBJECTIVE: To determine the incidence and types of childhood hypertropia in a defined population. DESIGN: Retrospective population-based cohort. PARTICIPANTS: All pediatric (<19 years of age) residents of Olmsted County, Minnesota, diagnosed with vertical strabismus from January 1, 1985, through December 31, 1994. METHODS: The medical records of all potential patients identified by the resources of the Rochester Epidemiology Project were reviewed. MAIN OUTCOME MEASURES: Incidence and types of childhood hypertropia. RESULTS: Forty-two cases of childhood hypertropia were identified during the 10-year period, yielding an annual age- and gender-adjusted incidence of 12.9 (95% confidence interval, 9.0-16.9) per 100000 patients younger than 19 years of age. This rate corresponds to a prevalence of approximately 0.26%, or 1 in 391, of all children younger than 19 years of age. Nearly three fourths (71.4%) of the children had a IVth cranial nerve palsy, primary inferior oblique overaction, Brown syndrome, or a vertical tropia in the setting of an abnormal central nervous system. CONCLUSIONS: The incidence rates for childhood hypertropia in this population-based study are higher than published reports of prevalence. Fourth cranial nerve palsy and primary dysfunction of the inferior oblique muscle were the most common forms of vertical strabismus in this population.

Adolescent↗
PubMed2006

Association of anthropometric measures with the presence and progression of benign prostatic hyperplasia.

The authors investigated the association of anthropometric measures with the presence and progression of components of benign prostatic hyperplasia (BPH) and a clinical outcome of BPH in a cohort of healthy, Caucasian men aged 40-79 years that was randomly selected from the Olmsted County, Minnesota, population beginning in 1990. Exclusionary criteria included prostate or bladder surgery, urethral surgery or stricture, or medical or other neurologic conditions that could affect normal urinary function. Height, weight, and waist and hip circumferences were measured. Components of BPH, including American Urological Association Symptom Index scores, peak urinary flow rate, and prostate volume, were assessed on a randomly selected subsample. Acute urinary retention was assessed through review of community medical records. There were few significant associations of anthropometric measures with the presence or progression of components of BPH or clinical outcome of BPH, and there were no instances where the point estimates for the BPH components suggested a dose-response effect. The authors conclude that anthropometric measures are not significantly associated with the presence or progression of BPH as measured by American Urological Association Symptom Index scores, peak urinary flow rate, prostate volume, or acute urinary retention. These data provide no evidence of a consistent significant relation between anthropometric measures and BPH.

Adult↗
PubMed2006

Diabetes and benign prostatic hyperplasia progression in Olmsted County, Minnesota.

OBJECTIVES: To examine the association of diabetes and progression of benign prostatic hyperplasia in a prospective population-based sample of residents of Olmsted County, Minnesota, with serial surrogate measures of benign prostatic hyperplasia. METHODS: A cohort of 2115 white men aged 40 to 79 years was randomly selected from an enumeration of the 1990 Olmsted County, Minnesota population (55% participation rate). Participants completed a previously validated baseline questionnaire that assessed lower urinary tract symptom severity from questions similar to the American Urological Association Symptom Index. The questionnaire also asked whether they had ever been diagnosed by a physician as having diabetes. Participants also voided into a portable urometer to measure the peak urinary flow rate. A 25% random subsample underwent transrectal ultrasonography to determine the prostate volume, and the prostate-specific antigen level was determined. Dynamic follow-up was performed biennially for 12 years with the measures repeated at each visit. RESULTS: Of the 2115 men 111 had diabetes at baseline. The men with diabetes had a significantly greater median annual percentage change in the American Urological Association Symptom Index (0.40 versus 0.15, P = 0.04) and a trend toward a greater median annual percentage of change in the peak urinary flow rate (-4.7% versus -2.9%, P = 0.06) compared with those without diabetes. However, no significant difference was found in the annual percentage of change in the prostate volume or serum prostate-specific antigen level. CONCLUSIONS: The results of this study suggest that the presence of diabetes may be more closely associated with the dynamic components of lower urinary tract function than with benign prostatic hyperplasia progression, per se.

Adult↗
PubMed2005

Incidence and outcomes of uveitis in juvenile rheumatoid arthritis, a synthesis of the literature.

BACKGROUND: Juvenile rheumatoid arthritis (JRA) is the most common systemic cause of pediatric uveitis in Europe and North America. Uveitis is commonly perceived as a frequent sequela of JRA and JRA-associated uveitis is commonly considered to have a complicated course with frequent adverse visual outcomes. METHODS: We performed a systematic literature search for series of consecutive patients with JRA (as defined by the American College of Rheumatology criteria) reporting on the frequency of uveitis and/or complications of uveitis, published between January 1980 and December 2004. The main outcome measures were: the cumulative incidence of uveitis in JRA, the cumulative incidence of adverse visual outcome and that of complications in JRA-associated uveitis. Additionally, the influence of gender, presence of antinuclear antibody (ANA) and disease onset subtype to the likelihood of developing uveitis were examined. RESULTS: Analysis of pooled data from the 26 eligible series suggested a cumulative incidence of uveitis in JRA of 8.3% [95% confidence intervals (CI), 7.5-9.1%]. The cumulative incidence of uveitis varied according to geographic location, being highest in Scandinavia, then the US, then Asia and lowest in India. JRA-associated uveitis was more common in pauciarticular than polyarticular onset patients [odds ratio (OR) = 3.2, 95% CI, 2.33-4.36] and in ANA-positive than ANA-negative patients (OR = 3.18, 95% CI, 2.22-4.54). Female gender was only a weak risk factor for the development of uveitis in JRA patients (OR = 1.69, 95% CI 1.09-2.62) and was not statistically significant after considering disease onset subtypes. In JRA-associated uveitis the cumulative incidence of cumulative incidence of adverse outcome (visual acuity < 20/40 OU) was 9.2% (95% CI: 4.7-15.8) of cataracts 20.5% (95% CI: 15.5-26.3), of glaucoma 18.9% (95% CI: 14.4-24.2) and of band keratopathy 15.7% (95% CI: 10.9-21.7). CONCLUSION: The cumulative incidence of uveitis in JRA varies according to geographic location, presence of ANA, type of JRA onset and gender. Uveitis, adverse visual outcome, and complications in JRA are less frequent than commonly accepted.

Adolescent↗
PubMed2005

Incidence and types of childhood exotropia: a population-based study.

OBJECTIVE: To determine the incidence and types of childhood exotropia in a defined population. DESIGN: Retrospective, population-based cohort. PARTICIPANTS: All pediatric (<19 years old) residents of Olmsted County, Minnesota diagnosed with an exodeviation (>or=10 prism diopters) from January 1, 1985 through December 31, 1994. METHODS: The medical records of all potential patients identified by the resources of the Rochester Epidemiology Project were reviewed. MAIN OUTCOME MEASURES: Incidence and types of childhood exotropia. RESULTS: Two hundred five cases of childhood exotropia were identified during the 10-year period, yielding an annual age- and gender-adjusted incidence of 64.1 (95% confidence interval: 55.2-72.9)/100,000 patients younger than 19 years. This rate corresponds to a prevalence of approximately 1.0% of all children younger than 11 years, with a significant decrease in the incidence during the second decade of life (P<0.001). Eighty-six percent of the children had intermittent exotropia, convergence insufficiency, or an exotropia in the setting of an abnormal central nervous system. CONCLUSIONS: The incidence of childhood exotropia from this population-based study is comparable to the prevalence rates in prior reports. Exotropia is most prevalent during the first decade of life, with intermittent exotropia and convergence insufficiency occurring most frequently.

Adolescent↗
PubMed2005

Diabetes and hypertension in isolated sixth nerve palsy: a population-based study.

PURPOSE: Diabetes mellitus and systemic hypertension are frequently reported as ischemic causes of sixth nerve palsy/paresis, but there are few rigorous studies to support these associations. We conducted a population-based case-control study to determine the presence and magnitude of any association of preexisting diabetes mellitus and systemic hypertension with isolated sixth nerve palsy. DESIGN: Retrospective population-based case-control study. PARTICIPANTS AND CONTROLS: Participants were patients with new onset of neurologically isolated sixth nerve palsy or paresis (n = 76) in Olmsted County, Minnesota, from January 1, 1978, to December 31, 1992. Controls (n = 76) were selected from the same general population and were matched for age, gender, and length of medical follow-up. METHODS: Using the Rochester Epidemiology Project medical records linkage system, which captures virtually all medical care provided to residents of Olmsted County, Minnesota, we identified all incident cases of neurologically isolated sixth nerve palsy/paresis (n = 76) among county residents between the given dates. An equal number (n = 76) of controls were randomly selected from the general population. We reviewed the entire medical record of each case and control, using stringent predetermined criteria to define the presence of diabetes mellitus and systemic hypertension. We compared the prevalence of diabetes and systemic hypertension between cases and controls by use of chi-square tests, and we calculated odds ratios (OR) with 95% confidence intervals (CI). MAIN OUTCOME MEASURES: Presence or absence of diabetes mellitus and systemic hypertension. RESULTS: Diabetes mellitus occurred more frequently in cases (23.7%) than in controls (5.3%; P = 0.001; OR, 5.59; 95% CI, 1.79-17.42). Systemic hypertension occurred with similar frequency in cases (51.3%) and controls (39.5%; P = 0.14; OR, 1.62; 95% CI, 0.85-3.08). Coexistent diabetes mellitus and hypertension were more common in cases (18.4%) than in controls (2.6%; P = 0.002; OR, 8.36; 95% CI, 1.83-38.18). CONCLUSIONS: We conclude that there is a 6-fold increase in odds of having diabetes in cases of sixth nerve palsy over controls, whereas systemic hypertension does not seem to be associated with increased odds. In contrast, there is an 8-fold increased odds of having coexistent diabetes and hypertension in cases of sixth nerve palsy over controls. The much-cited association of systemic hypertension alone with sixth nerve palsy may be coincidental.

Abducens Nerve Diseases↗
PubMed2005

Long-term trends in thyroid carcinoma: a population-based study in Olmsted County, Minnesota, 1935-1999.

OBJECTIVE: To determine whether there was a significant increase in the incidence of thyroid carcinoma in Olmsted County, Minnesota, that may be attributed to the widespread use of therapeutic head and neck irradiation between 1920 and the 1950s or to exposure to atomic fallout at the Nevada Test Site in the 1960s. METHODS: Rochester Epidemiology Project resources were used to identify potential cases of thyroid carcinoma among residents of Olmsted County between 1935 and 1984. We extended this earlier study through 1999. RESULTS: During the study period, thyroid carcinoma was newly diagnosed in 263 residents. In women, the age-adjusted incidence increased from 2.7 per 100,000 person-years (p-y) in 1935-1949 to 9.2 per 100,000 p-y in 1990-1999 (P = .001); In men, the rate increased from 0.8 to 5.0 per 100,000 p-y (P = .007). However, most of the increase occurred before 1965 and remained relatively stable thereafter. Similar trends were observed for papillary carcinoma alone. CONCLUSION: Although the Incidence of thyroid carcinoma increased significantly between 1935 and 1964, no significant Increases have been seen since 1965, suggesting that neither atmospheric atomic fallout from the Nevada Test Site nor use of ionizing radiation to treat conditions of the head and neck significantly affected the incidence of thyroid carcinoma in Olmsted County.

Adolescent↗
PubMed2005

Thrombomodulin gene polymorphisms or haplotypes as potential risk factors for venous thromboembolism: a population-based case-control study.

Dysfunction of the protein C anticoagulant system is associated with venous thromboembolism (VTE) and thrombomodulin (TM) is a critical cofactor within the protein C system. The aim of this study was to test the hypotheses that polymorphisms or haplotypes within the TM gene are common risk factors for VTE. We screened the TM putative promoter, exon and 3'-untranslated region for sequence variations in a random sample (n = 266) of consecutive idiopathic, objectively confirmed non-Olmsted County VTE patients referred to the Mayo Clinic. We then genotyped a sample of Olmsted County, MN residents with a first lifetime, objectively confirmed VTE in the 25-year period, 1966-90 (n = 223), and a sample of Olmsted County residents without VTE (n = 237) for polymorphisms either discovered in the screening population or previously published, and tested for an association of VTE with TM genotype or haplotypes using unconditional logistic regression and generalized linear models, respectively. We also genotyped these Olmsted County cases and controls at 20 'null' genetic maker loci and tested for population admixture. Nine novel and three previously described mutations were identified in the screening population. Mutations within the TM promoter, EGF(1-5), serine/threonine-rich, transmembrane, and cytoplasm regions were absent or uncommon. TM845G-->A (Ala25Thr; lectin region), TM2136T-->C (Ala455Val; EGF(6) region), TM2470C deletion (3'-untranslated region), and 4363A-->G (3'-flanking region) were more common, but were not associated with VTE by genotype or haplotype. Null genetic marker allele frequencies did not differ significantly among cases and controls. We conclude that polymorphisms or haplotypes within the TM gene are not common risk factors for incident VTE.

Adult↗
PubMed2005

Relative risk of mortality associated with diabetes as a function of birth weight.

OBJECTIVE: Birth weight is a risk factor for both diabetes and mortality. Diabetes is a risk factor for mortality. Whether the excess mortality observed for diabetes varies with birth weight is unclear. RESEARCH DESIGN AND METHODS: Among all 2,508 Rochester, Minnesota, residents who first met research criteria for adult-onset diabetes in 1960-1995, 171 were born locally in-hospital after 1922 (i.e., birth weights available) as singleton, term infants. Each case subject and two age- and sex-matched nondiabetic control subjects (born locally, residing locally when the case subject met the criteria for diabetes) were followed through 31 December 2000 for vital status. RESULTS: Of the diabetic case subjects, 16% (27 of 171) died vs. 7% (25 of 342) of control subjects (P = 0.004). The difference was less for normal-birth-weight (NBW) (2,948-<3,856 g) individuals (12% [12 of 102] vs. 8% [20 of 246], P = 0.31) than for abnormal-birth-weight individuals (low birth weight [LBW] 20% [8 of 39] vs. 2% [1 of 46], P = 0.01; high birth weight [HBW] 23% [7 of 30] vs. 8% [4 of 50], P = 0.16), as confirmed with age- and sex-adjusted Cox proportional hazards (diabetes-associated hazard ratio 1.4 [95% CI 0.69-2.90] for NBW vs. 4.8 [1.7-13.3] for abnormal birth weight, test for interaction P = 0.056). The observed diabetes deaths were greater than expected, based on mortality for the general population (27 vs. 13.3, P < 0.001), with 70% of excess deaths occurring among LBW (8 vs. 2.2, P < 0.001) and HBW (7 vs. 3.1, P = 0.03) individuals. CONCLUSIONS: The excess mortality observed for diabetes appears disproportionately concentrated among abnormal-birth-weight individuals, thus identifying a subset of at-risk diabetic individuals and reinforcing the importance of NBW deliveries.

Aged↗
PubMed2004

Ocular manifestations of juvenile rheumatoid arthritis in Olmsted County, Minnesota: a population-based study.

BACKGROUND: Juvenile rheumatoid arthritis (JRA) is the most common systemic cause of uveitis in Europe and North America. The cumulative incidence of uveitis in JRA has been reported at between 8.5% and 25% in series from referral centers in the USA. There have been no population-based studies of the cumulative incidence of uveitis in JRA in the USA. METHODS: We performed a population-based, retrospective cohort study of patients residing in Olmsted County, Minnesota between 1 January 1960 and 31 December 2000 who met American College of Rheumatology diagnostic criteria for JRA. The patients were identified using the Rochester Epidemiology Project (REP), a surveillance and medical records-linkage system which provides access to medical records of residents of Olmsted County. Patient histories were reviewed and information regarding rheumatic and ocular disease was extracted and analyzed. The main outcome measures were: cumulative incidence of uveitis, of complications of uveitis, of keratoconjunctivitis sicca (KCS) and of adverse visual outcome. RESULTS: Of the 88 patients identified, three patients developed uncomplicated uveitis [3.4%; 95% confidence intervals [CI] 0.7-9.6%), all with pauciarticular onset JRA. Two patients developed KCS (2.3%; 95% CI 0.3-8.0%). The visual acuity of these five patients at last follow-up (mean length of follow-up 22.6 years, range 8-36 years) was 20/20. There were no patients with visual loss attributable to JRA. CONCLUSIONS: In a population-based study of JRA in the United States, uveitis occurred at a lower frequency than expected. In the limited number of cases in this cohort with JRA-associated ophthalmologic complications there was no resulting loss of visual acuity.

Adolescent↗
PubMed2003

Herpes zoster ophthalmicus in olmsted county, Minnesota: have systemic antivirals made a difference?

OBJECTIVE: To determine the frequency of complications and adverse outcomes due to herpes zoster ophthalmicus before and after the introduction of oral antiviral medications in a community-based setting. METHODS: We identified all Olmsted County, Minnesota, residents diagnosed with acute herpes zoster ophthalmicus from 1976 through 1998. The frequencies of complications within 6 months of disease onset were compared between untreated patients vs those treated with antivirals. MAIN OUTCOME MEASURES: Defined complications were ocular sequelae due to herpes zoster ophthalmicus. Adverse outcomes included visual acuity of 20/200 or worse, trichiasis, or eyelid malposition requiring surgical treatment. RESULTS: A total of 202 patients had been treated with antivirals, and 121 had not. Neurotrophic keratitis was the only complication that was less likely in the treated group (3.3% vs 0%; P =.02). The probability of an adverse outcome at 5 and 10 years was 8.9% among untreated patients and 2.1% among treated patients (P =.009). Among patients who had been treated, the mean time from symptom onset to initiation of therapy was 4.8 days in those who developed stromal keratitis, corneal edema, scleritis, uveitis, or glaucoma compared with 3.8 days in those who did not (P =.006). CONCLUSIONS: Neurotrophic keratitis was less frequent among patients who received antiviral therapy. However, among treated patients, development of a serious inflammatory complication was associated with a delay in therapy. Most important, adverse outcomes were less probable in the treated group. These data may support the early and routine use of systemic antiviral therapy for acute herpes zoster ophthalmicus.

Acute Disease↗
PubMed2003

Microfluidic chip-based method for genotyping microsatellites, VNTRs and insertion/deletion polymorphisms.

We have developed a method to genotype variable number of tandem repeats (VNTRs) and insertion/deletion polymorphisms using an integrated microfluidic chip-based system. We used this method to analyze a) a highly polymorphic pentanucleotide repeat (CCTTT)(n) locus within the 5'-putative promoter region of the human inducible nitric oxide synthase gene (iNOS5) which is associated with diabetic complications and infectious diseases; b) a bi-allelic 27 bp VNTR region within intron 4 of endothelial nitric oxide gene (eNOS27) which is associated with hypertension in type 2 diabetes patients with coronary heart disease and excess risk of advanced diabetic nephropathy in type 1 diabetes patients and c) an insertion/deletion polymorphism within the gene encoding angiotensin-converting enzyme (ACE/ID) which is associated with cardiovascular pathology and nitric oxide activity, and is in strong linkage disequilibrium with functional variants. Following amplifications, samples were mixed with gel-dye and markers and loaded into commercially available microfluidic chips designed for DNA sizing applications. In the study (N = 230), 95 (41%) of the DNA samples were homozygous and 135 (59%) were heterozygous for the iNOS5 repeats. For eNOS27, 173 (75%) of the genotyped DNA samples were homozygous for the larger 4b allele and the remaining 57 samples (25%) were heterozygous (4b/4a). No DNA samples were homozygous for the shorter 4a allele with four 27 bp repeats. In case of ACE/ID, 47 (20%) of the DNA samples were homozygous for the insertion, 65 (28%) were homozygous for the deletion and the remaining 118 (51%) were heterozygous. The results obtained were verified by analyzing random amplicons using bi-directional sequencing and GeneScan 3.0 analyses with 100% concordance being observed. Using the microfluidic chip-based method, separation and DNA sizing and genotyping are rapidly accomplished. The DNA fragments are resolved clearly and the system allows quantitation. Finally, the microfluidic chip-based method may be used for both large- and small-scale genotyping studies.

Alleles↗
PubMed2003

Birth prevalence of visually significant infantile cataract in a defined U.S. population.

PURPOSE: To determine the birth prevalence of visually significant infantile cataract, using population-based comprehensive medical record retrieval, in a defined US population. DESIGN: Retrospective, population-based, medical record retrieval. METHODS: We reviewed records of all pediatric patients (0-17 years) coded as cataract during a 20-year period (1978 to 1997) using the resources of the Rochester Epidemiology Project. "Infantile cataract" was defined as a cataract diagnosed within the first year of life. "Possible infantile cataract" was defined as a cataract, diagnosed after the first year in a child born in Olmsted County, where there was no evidence of an acquired traumatic, acquired systemic, or acquired ocular etiology. Visually insignificant cataracts were excluded. RESULTS: Ten incident cases of visually significant infantile cataract were identified during the 20-year study period, yielding a birth prevalence of 3.0 per 10,000 live births (95% CI: 1.5-5.6 per 10,000). Five additional cases of visually significant "possible infantile cataract" were identified, diagnosed between the ages of 2 and 8 years. Inclusion of these "possible infantile cataracts" would result in an estimate of overall birth prevalence for visually significant infantile cataract of 4.5 per 10,000 live births (95% CI: 2.5-7.5 per 10,000). CONCLUSIONS: Using population-based medical record retrieval methods, we estimate the birth prevalence of visually significant infantile cataract to be 3.0 to 4.5 per 10,000. Infantile cataracts are an important cause of visual impairment in children and these data are useful in planning clinical trials and allocating health care resources.

Cataract↗