The Experts below are selected from a list of 201 Experts worldwide ranked by ideXlab platform

Alan K Percy - One of the best experts on this subject based on the ideXlab platform.

  • Biliary Tract Disease in girls and young women with rett syndrome
    Journal of Pediatric Gastroenterology and Nutrition, 2019
    Co-Authors: Kathleen J Motil, Jane B Lane, Judy O Barrish, Fran Annese, Suzanne Geerts, Lauren Mcnair, Steven A Skinner, Jeffrey L Neul, Daniel G Glaze, Alan K Percy
    Abstract:

    OBJECTIVE We reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of Biliary Tract Disease in girls and women with Rett syndrome (RTT). METHODS Sixty-two individuals with RTT and Biliary Tract Disease were identified from the membership of Rett Syndrome Organization and patient files of the principal investigator. Medical records of 46 individuals were reviewed for presenting features, diagnostic tests, and treatment outcomes of Biliary Tract Disease. We designed a questionnaire that probed the frequency of risk factors and treatment outcomes of Biliary Tract Disease in RTT. The questionnaire was completed by 271 parents whose daughters met the clinical criteria for RTT and/or had MECP2 mutations and participated in the Natural History of Rett Syndrome Study. RESULTS Presenting symptoms identified by record review included abdominal pain (94%), irritability (88%), weight loss (64%), and vomiting (52%). Biliary dyskinesia, cholecystitis, and cholelithiasis were identified in 90%, 77%, and 70%, respectively, by cholescintigraphy, surgical pathology, and abdominal ultrasound. The prevalence of Biliary Tract Disease was 4.4% (n = 12) in the RTT cohort. Risk factors included older age (P < 0.001) and a positive family history (P < 0.01). Diagnoses included cholecystitis (n = 5), Biliary dyskinesia (n = 6), and cholelithiasis (n = 7). Ten individuals underwent surgery; 7 had resolution of symptoms after surgical intervention. CONCLUSIONS Biliary Tract Disease is not unique to RTT, but may be under-recognized because of the cognitive impairment of affected individuals. Early diagnostic evaluation and intervention may improve the health and quality of life of individuals affected with RTT and Biliary Tract Disease.

  • Biliary Tract Disease in Girls and Young Women With Rett Syndrome.
    Journal of pediatric gastroenterology and nutrition, 2019
    Co-Authors: Kathleen J Motil, Jane B Lane, Judy O Barrish, Fran Annese, Suzanne Geerts, Lauren Mcnair, Steven A Skinner, Jeffrey L Neul, Daniel G Glaze, Alan K Percy
    Abstract:

    OBJECTIVE We reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of Biliary Tract Disease in girls and women with Rett syndrome (RTT). METHODS Sixty-two individuals with RTT and Biliary Tract Disease were identified from the membership of Rett Syndrome Organization and patient files of the principal investigator. Medical records of 46 individuals were reviewed for presenting features, diagnostic tests, and treatment outcomes of Biliary Tract Disease. We designed a questionnaire that probed the frequency of risk factors and treatment outcomes of Biliary Tract Disease in RTT. The questionnaire was completed by 271 parents whose daughters met the clinical criteria for RTT and/or had MECP2 mutations and participated in the Natural History of Rett Syndrome Study. RESULTS Presenting symptoms identified by record review included abdominal pain (94%), irritability (88%), weight loss (64%), and vomiting (52%). Biliary dyskinesia, cholecystitis, and cholelithiasis were identified in 90%, 77%, and 70%, respectively, by cholescintigraphy, surgical pathology, and abdominal ultrasound. The prevalence of Biliary Tract Disease was 4.4% (n = 12) in the RTT cohort. Risk factors included older age (P 

Parminder K Judge - One of the best experts on this subject based on the ideXlab platform.

  • Biliary Tract and liver complications in polycystic kidney Disease
    Journal of The American Society of Nephrology, 2017
    Co-Authors: Parminder K Judge, Charlie H S Harper, Benjamin C Storey, Richard Haynes, Martin J Wilcock, Natalie Staplin
    Abstract:

    Polycystic liver Disease is a well described manifestation of autosomal dominant polycystic kidney Disease (ADPKD). Biliary Tract complications are less well recognized. We report a 50-year single-center experience of 1007 patients, which raised a hypothesis that ADPKD is associated with Biliary Tract Disease. We tested this hypothesis using all England Hospital Episode Statistics data (1998-2012), within which we identified 23,454 people with ADPKD and 6,412,754 hospital controls. Hospitalization rates for Biliary Tract Disease, serious liver complications, and a range of other known ADPKD manifestations were adjusted for potential confounders. Compared with non-ADPKD hospital controls, those with ADPKD had higher rates of admission for Biliary Tract Disease (rate ratio [RR], 2.24; 95% confidence interval [95% CI], 2.16 to 2.33) and serious liver complications (RR, 4.67; 95% CI, 4.35 to 5.02). In analyses restricted to those on maintenance dialysis or with a kidney transplant, RRs attenuated substantially, but ADPKD remained associated with Biliary Tract Disease (RR, 1.19; 95% CI, 1.08 to 1.31) and perhaps with serious liver complications (RR, 1.15; 95% CI, 0.98 to 1.33). The ADPKD versus non-ADPKD RRs for Biliary Tract Disease were larger for men than women (heterogeneity P<0.001), but RRs for serious liver complications appeared higher in women (heterogeneity P<0.001). Absolute excess risk of Biliary Tract Disease associated with ADPKD was larger than that for serious liver Disease, cerebral aneurysms, and inguinal hernias but less than that for urinary Tract infections. Overall, Biliary Tract Disease seems to be a distinct and important extrarenal complication of ADPKD.

  • Biliary Tract and liver complications in polycystic kidney Disease
    Journal of The American Society of Nephrology, 2017
    Co-Authors: Parminder K Judge, Benjamin C Storey, Richard Haynes, Martin J Wilcock, Natalie Staplin, Raph Goldacre, Colin Baigent
    Abstract:

    Polycystic liver Disease is a well described manifestation of autosomal dominant polycystic kidney Disease (ADPKD). Biliary Tract complications are less well recognized. We report a 50-year single-center experience of 1007 patients, which raised a hypothesis that ADPKD is associated with Biliary Tract Disease. We tested this hypothesis using all England Hospital Episode Statistics data (1998–2012), within which we identified 23,454 people with ADPKD and 6,412,754 hospital controls. Hospitalization rates for Biliary Tract Disease, serious liver complications, and a range of other known ADPKD manifestations were adjusted for potential confounders. Compared with non-ADPKD hospital controls, those with ADPKD had higher rates of admission for Biliary Tract Disease (rate ratio [RR], 2.24; 95% confidence interval [95% CI], 2.16 to 2.33) and serious liver complications (RR, 4.67; 95% CI, 4.35 to 5.02). In analyses restricted to those on maintenance dialysis or with a kidney transplant, RRs attenuated substantially, but ADPKD remained associated with Biliary Tract Disease (RR, 1.19; 95% CI, 1.08 to 1.31) and perhaps with serious liver complications (RR, 1.15; 95% CI, 0.98 to 1.33). The ADPKD versus non-ADPKD RRs for Biliary Tract Disease were larger for men than women (heterogeneity P P

Kathleen J Motil - One of the best experts on this subject based on the ideXlab platform.

  • Biliary Tract Disease in girls and young women with rett syndrome
    Journal of Pediatric Gastroenterology and Nutrition, 2019
    Co-Authors: Kathleen J Motil, Jane B Lane, Judy O Barrish, Fran Annese, Suzanne Geerts, Lauren Mcnair, Steven A Skinner, Jeffrey L Neul, Daniel G Glaze, Alan K Percy
    Abstract:

    OBJECTIVE We reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of Biliary Tract Disease in girls and women with Rett syndrome (RTT). METHODS Sixty-two individuals with RTT and Biliary Tract Disease were identified from the membership of Rett Syndrome Organization and patient files of the principal investigator. Medical records of 46 individuals were reviewed for presenting features, diagnostic tests, and treatment outcomes of Biliary Tract Disease. We designed a questionnaire that probed the frequency of risk factors and treatment outcomes of Biliary Tract Disease in RTT. The questionnaire was completed by 271 parents whose daughters met the clinical criteria for RTT and/or had MECP2 mutations and participated in the Natural History of Rett Syndrome Study. RESULTS Presenting symptoms identified by record review included abdominal pain (94%), irritability (88%), weight loss (64%), and vomiting (52%). Biliary dyskinesia, cholecystitis, and cholelithiasis were identified in 90%, 77%, and 70%, respectively, by cholescintigraphy, surgical pathology, and abdominal ultrasound. The prevalence of Biliary Tract Disease was 4.4% (n = 12) in the RTT cohort. Risk factors included older age (P < 0.001) and a positive family history (P < 0.01). Diagnoses included cholecystitis (n = 5), Biliary dyskinesia (n = 6), and cholelithiasis (n = 7). Ten individuals underwent surgery; 7 had resolution of symptoms after surgical intervention. CONCLUSIONS Biliary Tract Disease is not unique to RTT, but may be under-recognized because of the cognitive impairment of affected individuals. Early diagnostic evaluation and intervention may improve the health and quality of life of individuals affected with RTT and Biliary Tract Disease.

  • Biliary Tract Disease in Girls and Young Women With Rett Syndrome.
    Journal of pediatric gastroenterology and nutrition, 2019
    Co-Authors: Kathleen J Motil, Jane B Lane, Judy O Barrish, Fran Annese, Suzanne Geerts, Lauren Mcnair, Steven A Skinner, Jeffrey L Neul, Daniel G Glaze, Alan K Percy
    Abstract:

    OBJECTIVE We reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of Biliary Tract Disease in girls and women with Rett syndrome (RTT). METHODS Sixty-two individuals with RTT and Biliary Tract Disease were identified from the membership of Rett Syndrome Organization and patient files of the principal investigator. Medical records of 46 individuals were reviewed for presenting features, diagnostic tests, and treatment outcomes of Biliary Tract Disease. We designed a questionnaire that probed the frequency of risk factors and treatment outcomes of Biliary Tract Disease in RTT. The questionnaire was completed by 271 parents whose daughters met the clinical criteria for RTT and/or had MECP2 mutations and participated in the Natural History of Rett Syndrome Study. RESULTS Presenting symptoms identified by record review included abdominal pain (94%), irritability (88%), weight loss (64%), and vomiting (52%). Biliary dyskinesia, cholecystitis, and cholelithiasis were identified in 90%, 77%, and 70%, respectively, by cholescintigraphy, surgical pathology, and abdominal ultrasound. The prevalence of Biliary Tract Disease was 4.4% (n = 12) in the RTT cohort. Risk factors included older age (P 

Richard Haynes - One of the best experts on this subject based on the ideXlab platform.

  • Biliary Tract and liver complications in polycystic kidney Disease
    Journal of The American Society of Nephrology, 2017
    Co-Authors: Parminder K Judge, Charlie H S Harper, Benjamin C Storey, Richard Haynes, Martin J Wilcock, Natalie Staplin
    Abstract:

    Polycystic liver Disease is a well described manifestation of autosomal dominant polycystic kidney Disease (ADPKD). Biliary Tract complications are less well recognized. We report a 50-year single-center experience of 1007 patients, which raised a hypothesis that ADPKD is associated with Biliary Tract Disease. We tested this hypothesis using all England Hospital Episode Statistics data (1998-2012), within which we identified 23,454 people with ADPKD and 6,412,754 hospital controls. Hospitalization rates for Biliary Tract Disease, serious liver complications, and a range of other known ADPKD manifestations were adjusted for potential confounders. Compared with non-ADPKD hospital controls, those with ADPKD had higher rates of admission for Biliary Tract Disease (rate ratio [RR], 2.24; 95% confidence interval [95% CI], 2.16 to 2.33) and serious liver complications (RR, 4.67; 95% CI, 4.35 to 5.02). In analyses restricted to those on maintenance dialysis or with a kidney transplant, RRs attenuated substantially, but ADPKD remained associated with Biliary Tract Disease (RR, 1.19; 95% CI, 1.08 to 1.31) and perhaps with serious liver complications (RR, 1.15; 95% CI, 0.98 to 1.33). The ADPKD versus non-ADPKD RRs for Biliary Tract Disease were larger for men than women (heterogeneity P<0.001), but RRs for serious liver complications appeared higher in women (heterogeneity P<0.001). Absolute excess risk of Biliary Tract Disease associated with ADPKD was larger than that for serious liver Disease, cerebral aneurysms, and inguinal hernias but less than that for urinary Tract infections. Overall, Biliary Tract Disease seems to be a distinct and important extrarenal complication of ADPKD.

  • Biliary Tract and liver complications in polycystic kidney Disease
    Journal of The American Society of Nephrology, 2017
    Co-Authors: Parminder K Judge, Benjamin C Storey, Richard Haynes, Martin J Wilcock, Natalie Staplin, Raph Goldacre, Colin Baigent
    Abstract:

    Polycystic liver Disease is a well described manifestation of autosomal dominant polycystic kidney Disease (ADPKD). Biliary Tract complications are less well recognized. We report a 50-year single-center experience of 1007 patients, which raised a hypothesis that ADPKD is associated with Biliary Tract Disease. We tested this hypothesis using all England Hospital Episode Statistics data (1998–2012), within which we identified 23,454 people with ADPKD and 6,412,754 hospital controls. Hospitalization rates for Biliary Tract Disease, serious liver complications, and a range of other known ADPKD manifestations were adjusted for potential confounders. Compared with non-ADPKD hospital controls, those with ADPKD had higher rates of admission for Biliary Tract Disease (rate ratio [RR], 2.24; 95% confidence interval [95% CI], 2.16 to 2.33) and serious liver complications (RR, 4.67; 95% CI, 4.35 to 5.02). In analyses restricted to those on maintenance dialysis or with a kidney transplant, RRs attenuated substantially, but ADPKD remained associated with Biliary Tract Disease (RR, 1.19; 95% CI, 1.08 to 1.31) and perhaps with serious liver complications (RR, 1.15; 95% CI, 0.98 to 1.33). The ADPKD versus non-ADPKD RRs for Biliary Tract Disease were larger for men than women (heterogeneity P P

Benjamin C Storey - One of the best experts on this subject based on the ideXlab platform.

  • Biliary Tract and liver complications in polycystic kidney Disease
    Journal of The American Society of Nephrology, 2017
    Co-Authors: Parminder K Judge, Charlie H S Harper, Benjamin C Storey, Richard Haynes, Martin J Wilcock, Natalie Staplin
    Abstract:

    Polycystic liver Disease is a well described manifestation of autosomal dominant polycystic kidney Disease (ADPKD). Biliary Tract complications are less well recognized. We report a 50-year single-center experience of 1007 patients, which raised a hypothesis that ADPKD is associated with Biliary Tract Disease. We tested this hypothesis using all England Hospital Episode Statistics data (1998-2012), within which we identified 23,454 people with ADPKD and 6,412,754 hospital controls. Hospitalization rates for Biliary Tract Disease, serious liver complications, and a range of other known ADPKD manifestations were adjusted for potential confounders. Compared with non-ADPKD hospital controls, those with ADPKD had higher rates of admission for Biliary Tract Disease (rate ratio [RR], 2.24; 95% confidence interval [95% CI], 2.16 to 2.33) and serious liver complications (RR, 4.67; 95% CI, 4.35 to 5.02). In analyses restricted to those on maintenance dialysis or with a kidney transplant, RRs attenuated substantially, but ADPKD remained associated with Biliary Tract Disease (RR, 1.19; 95% CI, 1.08 to 1.31) and perhaps with serious liver complications (RR, 1.15; 95% CI, 0.98 to 1.33). The ADPKD versus non-ADPKD RRs for Biliary Tract Disease were larger for men than women (heterogeneity P<0.001), but RRs for serious liver complications appeared higher in women (heterogeneity P<0.001). Absolute excess risk of Biliary Tract Disease associated with ADPKD was larger than that for serious liver Disease, cerebral aneurysms, and inguinal hernias but less than that for urinary Tract infections. Overall, Biliary Tract Disease seems to be a distinct and important extrarenal complication of ADPKD.

  • Biliary Tract and liver complications in polycystic kidney Disease
    Journal of The American Society of Nephrology, 2017
    Co-Authors: Parminder K Judge, Benjamin C Storey, Richard Haynes, Martin J Wilcock, Natalie Staplin, Raph Goldacre, Colin Baigent
    Abstract:

    Polycystic liver Disease is a well described manifestation of autosomal dominant polycystic kidney Disease (ADPKD). Biliary Tract complications are less well recognized. We report a 50-year single-center experience of 1007 patients, which raised a hypothesis that ADPKD is associated with Biliary Tract Disease. We tested this hypothesis using all England Hospital Episode Statistics data (1998–2012), within which we identified 23,454 people with ADPKD and 6,412,754 hospital controls. Hospitalization rates for Biliary Tract Disease, serious liver complications, and a range of other known ADPKD manifestations were adjusted for potential confounders. Compared with non-ADPKD hospital controls, those with ADPKD had higher rates of admission for Biliary Tract Disease (rate ratio [RR], 2.24; 95% confidence interval [95% CI], 2.16 to 2.33) and serious liver complications (RR, 4.67; 95% CI, 4.35 to 5.02). In analyses restricted to those on maintenance dialysis or with a kidney transplant, RRs attenuated substantially, but ADPKD remained associated with Biliary Tract Disease (RR, 1.19; 95% CI, 1.08 to 1.31) and perhaps with serious liver complications (RR, 1.15; 95% CI, 0.98 to 1.33). The ADPKD versus non-ADPKD RRs for Biliary Tract Disease were larger for men than women (heterogeneity P P