The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
Judy Savige - One of the best experts on this subject based on the ideXlab platform.
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segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for alport syndrome
Kidney International, 2001Co-Authors: Mark Buzza, Diane Wilson, Judy SavigeAbstract:Segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Background Inherited Hematuria is common and is usually attributed to thin basement membrane disease (TBMD). The aim of this study was to determine how often Hematuria in families with TBMD segregated with haplotypes at the chromosomal loci for autosomal recessive and X-linked Alport syndrome (COL4A3/COL4A4 and COL4A5, respectively). Methods The families of 22 individuals with TBMD on renal biopsy and with urinary glomerular red blood cell (RBC) counts of more than 50,000/mL were studied using phase-contrast microscopy of the urine and DNA microsatellite markers. Eighteen families had at least two members with Hematuria. Results Hematuria segregated with or was consistent with segregation at the COL4A3/COL4A4 locus in eight (36%) families ( P P Conclusions Hematuria in families with TBMD commonly segregates with the COL4A3/COL4A4 locus and thus results from mutations in the same genes as autosomal recessive Alport syndrome. Sometimes TBMD may be confused with the carrier state for X-linked Alport syndrome. However, nearly half of the families in this study had Hematuria that did not segregate with the loci for either autosomal recessive or X-linked Alport syndrome.
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segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for alport syndrome
Kidney International, 2001Co-Authors: Mark Buzza, Diane Wilson, Judy SavigeAbstract:Segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Background Inherited Hematuria is common and is usually attributed to thin basement membrane disease (TBMD). The aim of this study was to determine how often Hematuria in families with TBMD segregated with haplotypes at the chromosomal loci for autosomal recessive and X-linked Alport syndrome (COL4A3/COL4A4 and COL4A5, respectively). Methods The families of 22 individuals with TBMD on renal biopsy and with urinary glomerular red blood cell (RBC) counts of more than 50,000/mL were studied using phase-contrast microscopy of the urine and DNA microsatellite markers. Eighteen families had at least two members with Hematuria. Results Hematuria segregated with or was consistent with segregation at the COL4A3/COL4A4 locus in eight (36%) families ( P P Conclusions Hematuria in families with TBMD commonly segregates with the COL4A3/COL4A4 locus and thus results from mutations in the same genes as autosomal recessive Alport syndrome. Sometimes TBMD may be confused with the carrier state for X-linked Alport syndrome. However, nearly half of the families in this study had Hematuria that did not segregate with the loci for either autosomal recessive or X-linked Alport syndrome.
Mark Buzza - One of the best experts on this subject based on the ideXlab platform.
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segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for alport syndrome
Kidney International, 2001Co-Authors: Mark Buzza, Diane Wilson, Judy SavigeAbstract:Segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Background Inherited Hematuria is common and is usually attributed to thin basement membrane disease (TBMD). The aim of this study was to determine how often Hematuria in families with TBMD segregated with haplotypes at the chromosomal loci for autosomal recessive and X-linked Alport syndrome (COL4A3/COL4A4 and COL4A5, respectively). Methods The families of 22 individuals with TBMD on renal biopsy and with urinary glomerular red blood cell (RBC) counts of more than 50,000/mL were studied using phase-contrast microscopy of the urine and DNA microsatellite markers. Eighteen families had at least two members with Hematuria. Results Hematuria segregated with or was consistent with segregation at the COL4A3/COL4A4 locus in eight (36%) families ( P P Conclusions Hematuria in families with TBMD commonly segregates with the COL4A3/COL4A4 locus and thus results from mutations in the same genes as autosomal recessive Alport syndrome. Sometimes TBMD may be confused with the carrier state for X-linked Alport syndrome. However, nearly half of the families in this study had Hematuria that did not segregate with the loci for either autosomal recessive or X-linked Alport syndrome.
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segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for alport syndrome
Kidney International, 2001Co-Authors: Mark Buzza, Diane Wilson, Judy SavigeAbstract:Segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Background Inherited Hematuria is common and is usually attributed to thin basement membrane disease (TBMD). The aim of this study was to determine how often Hematuria in families with TBMD segregated with haplotypes at the chromosomal loci for autosomal recessive and X-linked Alport syndrome (COL4A3/COL4A4 and COL4A5, respectively). Methods The families of 22 individuals with TBMD on renal biopsy and with urinary glomerular red blood cell (RBC) counts of more than 50,000/mL were studied using phase-contrast microscopy of the urine and DNA microsatellite markers. Eighteen families had at least two members with Hematuria. Results Hematuria segregated with or was consistent with segregation at the COL4A3/COL4A4 locus in eight (36%) families ( P P Conclusions Hematuria in families with TBMD commonly segregates with the COL4A3/COL4A4 locus and thus results from mutations in the same genes as autosomal recessive Alport syndrome. Sometimes TBMD may be confused with the carrier state for X-linked Alport syndrome. However, nearly half of the families in this study had Hematuria that did not segregate with the loci for either autosomal recessive or X-linked Alport syndrome.
Diane Wilson - One of the best experts on this subject based on the ideXlab platform.
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segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for alport syndrome
Kidney International, 2001Co-Authors: Mark Buzza, Diane Wilson, Judy SavigeAbstract:Segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Background Inherited Hematuria is common and is usually attributed to thin basement membrane disease (TBMD). The aim of this study was to determine how often Hematuria in families with TBMD segregated with haplotypes at the chromosomal loci for autosomal recessive and X-linked Alport syndrome (COL4A3/COL4A4 and COL4A5, respectively). Methods The families of 22 individuals with TBMD on renal biopsy and with urinary glomerular red blood cell (RBC) counts of more than 50,000/mL were studied using phase-contrast microscopy of the urine and DNA microsatellite markers. Eighteen families had at least two members with Hematuria. Results Hematuria segregated with or was consistent with segregation at the COL4A3/COL4A4 locus in eight (36%) families ( P P Conclusions Hematuria in families with TBMD commonly segregates with the COL4A3/COL4A4 locus and thus results from mutations in the same genes as autosomal recessive Alport syndrome. Sometimes TBMD may be confused with the carrier state for X-linked Alport syndrome. However, nearly half of the families in this study had Hematuria that did not segregate with the loci for either autosomal recessive or X-linked Alport syndrome.
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segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for alport syndrome
Kidney International, 2001Co-Authors: Mark Buzza, Diane Wilson, Judy SavigeAbstract:Segregation of Hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Background Inherited Hematuria is common and is usually attributed to thin basement membrane disease (TBMD). The aim of this study was to determine how often Hematuria in families with TBMD segregated with haplotypes at the chromosomal loci for autosomal recessive and X-linked Alport syndrome (COL4A3/COL4A4 and COL4A5, respectively). Methods The families of 22 individuals with TBMD on renal biopsy and with urinary glomerular red blood cell (RBC) counts of more than 50,000/mL were studied using phase-contrast microscopy of the urine and DNA microsatellite markers. Eighteen families had at least two members with Hematuria. Results Hematuria segregated with or was consistent with segregation at the COL4A3/COL4A4 locus in eight (36%) families ( P P Conclusions Hematuria in families with TBMD commonly segregates with the COL4A3/COL4A4 locus and thus results from mutations in the same genes as autosomal recessive Alport syndrome. Sometimes TBMD may be confused with the carrier state for X-linked Alport syndrome. However, nearly half of the families in this study had Hematuria that did not segregate with the loci for either autosomal recessive or X-linked Alport syndrome.
Steven J Jacobsen - One of the best experts on this subject based on the ideXlab platform.
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stratifying risk of urinary tract malignant tumors in patients with asymptomatic microscopic Hematuria
Mayo Clinic Proceedings, 2013Co-Authors: Ronald K Loo, Jeff Slezak, Stephen F Lieberman, Howard M Landa, Albert J Mariani, Gary Nicolaisen, Ann Michelle Aspera, Steven J JacobsenAbstract:Objective: To identify patients who could safely avoid unnecessary radiation and instrumentation after the detection of microscopic Hematuria. Patients and Methods: We conducted a prospective cohort study of patients who were referred to urologists and underwent a full evaluation for asymptomatic microscopic Hematuria during a 2-year period in an integrated care organization in 3 regions along the West Coast of the United States. A test cohort and validation cohort of patients with Hematuria evaluations between January 9, 2009, and August 15, 2011, were identified. Patients were followed passively through their electronic health records for a diagnosis of urothelial or renal cancer. The degree of microscopic Hematuria, history of gross Hematuria, smoking history, age, race, imaging findings, and cystoscopy findings were evaluated as risk factors for malignant tumors. Results: The test cohort consisted of 2630 patients, of whom 55 (2.1%) had a neoplasm detected and 50 (1.9%) had a pathologically confirmed urinary tract cancer. Age of 50 years or older and a recent diagnosis of gross Hematuria were the strongest predictors of cancer. Male sex was also predictive of cancer, whereas smoking history and 25 or more red blood cells per high-power field on a recent urinalysis were not statistically significant. A Hematuria Risk Index developed from these factors had an area under the receiver operating characteristic curve of 0.809. In the validation cohort of 1784 patients, the Hematuria Risk Index performed comparably (area under the curve ¼ 0.829). Overall, 32% of the population was identified as low risk and 0.2% had a cancer detected; 14% of the population was identified as high risk, of whom 11.1% had a cancer found. Conclusion: These results suggest that a considerable proportion of patients could avoid extensive evaluations with the use of the Hematuria Risk Index.
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association of Hematuria on microscopic urinalysis and risk of urinary tract cancer
The Journal of Urology, 2011Co-Authors: Howard Jung, Jeff Slezak, Ronald K Loo, Joseph M Gleason, Hetal Patel, Steven J JacobsenAbstract:Purpose: We determined the incidence of urinary tract cancer in patients with Hematuria, stratified risk by age, gender and Hematuria degree, and examined current best policy recommendations.Materials and Methods: We performed a large, retrospective population based cohort study of patients who underwent microscopic urinalysis during 2004 and 2005 in a large managed care organization. Patients were followed for 3 years for urinary tract cancer.Results: We identified 772,002 patients who underwent urinalysis during the study period. After exclusions due to previous Hematuria, age less than 18 years, pregnancy, urinary tract infection, inpatient status and prior urinary tract cancer 309,402 patients were available for analysis, of whom 156,691 had Hematuria. The overall 3-year incidence of urinary tract cancer in those with Hematuria was 0.68%. Older age (greater than 40 years OR 17.0, 95% CI 11.2–25.7), greater Hematuria (greater than 25 red blood cells per high power field OR 4.0, 95% CI 3.5–4.5) and male...
Ronald K Loo - One of the best experts on this subject based on the ideXlab platform.
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evaluation of microscopic Hematuria and risk of urologic cancer in female patients
American Journal of Obstetrics and Gynecology, 2017Co-Authors: Quinn Lippmann, Jeff Slezak, Shawn A Menefee, Emily L Whitcomb, Ronald K LooAbstract:Background Urologic cancer has a lower prevalence in women compared with men; however, there are no differences in the recommended evaluation for women and men with microscopic Hematuria. Objectives The purpose of this study was to identify risk factors that are associated with urologic cancer in women with microscopic Hematuria and to determine the applicability of a Hematuria risk score for women. Study Design We conducted a retrospective cohort study within an integrated healthcare system in Southern California. All urinalyses with microscopic Hematuria (>3 red blood cells per high-power field) that were performed from 2009–2015 were identified. Women who were referred for urologic evaluation were entered into a prospective database. Clinical and demographic variables that included the presence of gross Hematuria in the preceding 6 months were recorded. The cause of the Hematuria, benign or malignant, was entered into the database. Cancer rates were compared with the use of chi-square and logistic regression models. Adjusted risk ratios of urologic cancer were estimated with the use of multivariate regression analysis. We also explored the applicability of a previously developed, gender nonspecific, Hematuria risk score in this female cohort. Results A total of 2,705,696 urinalyses were performed in women during the study period, of which 552,119 revealed microscopic Hematuria. Of these, 14,539 women were referred for urologic evaluation; clinical data for 3573 women were entered into the database. The overall rate of urologic cancer was 1.3% (47/3573). In women P P 60 years old (odds ratio, 3.1; 95% confidence interval, 1.6–5.9), a history of smoking (odds ratio, 3.2; 95% confidence interval, 1.8–5.9), and a history of gross Hematuria in the previous 6 months (odds ratio, 6.2; 95% confidence interval, 3.4–11.5) were associated with urologic cancers. A higher microscopic Hematuria risk score was associated with an increased risk of cancer in this test cohort ( P Conclusions In this female population, >60 years old and a history of smoking and/or gross Hematuria were the strongest predictors of urologic cancer. Absent these risk factors, the rate of urologic cancer did not exceed 0.6%. A higher Hematuria risk score correlated significantly with the risk of urologic cancer in this female test cohort.
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stratifying risk of urinary tract malignant tumors in patients with asymptomatic microscopic Hematuria
Mayo Clinic Proceedings, 2013Co-Authors: Ronald K Loo, Jeff Slezak, Stephen F Lieberman, Howard M Landa, Albert J Mariani, Gary Nicolaisen, Ann Michelle Aspera, Steven J JacobsenAbstract:Objective: To identify patients who could safely avoid unnecessary radiation and instrumentation after the detection of microscopic Hematuria. Patients and Methods: We conducted a prospective cohort study of patients who were referred to urologists and underwent a full evaluation for asymptomatic microscopic Hematuria during a 2-year period in an integrated care organization in 3 regions along the West Coast of the United States. A test cohort and validation cohort of patients with Hematuria evaluations between January 9, 2009, and August 15, 2011, were identified. Patients were followed passively through their electronic health records for a diagnosis of urothelial or renal cancer. The degree of microscopic Hematuria, history of gross Hematuria, smoking history, age, race, imaging findings, and cystoscopy findings were evaluated as risk factors for malignant tumors. Results: The test cohort consisted of 2630 patients, of whom 55 (2.1%) had a neoplasm detected and 50 (1.9%) had a pathologically confirmed urinary tract cancer. Age of 50 years or older and a recent diagnosis of gross Hematuria were the strongest predictors of cancer. Male sex was also predictive of cancer, whereas smoking history and 25 or more red blood cells per high-power field on a recent urinalysis were not statistically significant. A Hematuria Risk Index developed from these factors had an area under the receiver operating characteristic curve of 0.809. In the validation cohort of 1784 patients, the Hematuria Risk Index performed comparably (area under the curve ¼ 0.829). Overall, 32% of the population was identified as low risk and 0.2% had a cancer detected; 14% of the population was identified as high risk, of whom 11.1% had a cancer found. Conclusion: These results suggest that a considerable proportion of patients could avoid extensive evaluations with the use of the Hematuria Risk Index.
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association of Hematuria on microscopic urinalysis and risk of urinary tract cancer
The Journal of Urology, 2011Co-Authors: Howard Jung, Jeff Slezak, Ronald K Loo, Joseph M Gleason, Hetal Patel, Steven J JacobsenAbstract:Purpose: We determined the incidence of urinary tract cancer in patients with Hematuria, stratified risk by age, gender and Hematuria degree, and examined current best policy recommendations.Materials and Methods: We performed a large, retrospective population based cohort study of patients who underwent microscopic urinalysis during 2004 and 2005 in a large managed care organization. Patients were followed for 3 years for urinary tract cancer.Results: We identified 772,002 patients who underwent urinalysis during the study period. After exclusions due to previous Hematuria, age less than 18 years, pregnancy, urinary tract infection, inpatient status and prior urinary tract cancer 309,402 patients were available for analysis, of whom 156,691 had Hematuria. The overall 3-year incidence of urinary tract cancer in those with Hematuria was 0.68%. Older age (greater than 40 years OR 17.0, 95% CI 11.2–25.7), greater Hematuria (greater than 25 red blood cells per high power field OR 4.0, 95% CI 3.5–4.5) and male...