Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry

2021 ◽  
Vol 125 ◽  
pp. 108365
Author(s):  
Danielle Boyce ◽  
Sheena McGee ◽  
Lisa Shank ◽  
Sheel Pathak ◽  
Douglas Gould
Keyword(s):  
Patient Registry ◽  
Syndrome Patient

scholarly journals Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management

2021 ◽  
Vol 9 ◽  
Author(s):  
Kelly A. Duffy ◽  
Kelly L. Trout ◽  
Jennifer M. Gunckle ◽  
Shari McCullen Krantz ◽  
John Morris ◽  
...  
Keyword(s):  
Care Management ◽  
Wilms Tumor ◽  
Genetic Disorder ◽  
Spectrum Disorder ◽  
Patient Registry ◽  
Management Approach ◽  
Syndrome Patient ◽  
Clinical Issues ◽  
Wagr Syndrome ◽  
Wide Range

WAGR syndrome is a rare genetic disorder characterized by Wilms tumor, Aniridia, Genitourinary anomalies, and Range of developmental delays. In addition to the classic features, patients affected by WAGR syndrome can develop obesity and kidney failure, and a wide variety of non-classical manifestations have also been described. This suggests that a broader phenotypic spectrum beyond the classic syndrome exists and here we demonstrate that spectrum using data from the WAGR Syndrome Patient Registry. In the present study, we collected information from 91 individuals enrolled in the registry to explore self-reported health issues in this patient population. A wide variety of common clinical issues not classically associated with the disorder were found, prompting the redefinition from WAGR syndrome to WAGR spectrum disorder to incorporate the phenotypic variations that occur. A comprehensive care management approach is needed to address the wide range of clinical issues and we propose a care model for patients affected by WAGR spectrum disorder. Further research is needed to solidify the breath of the phenotype and confirm the observations in this study to advance individualized patient care in this population.

Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control

2019 ◽  
Vol 215 ◽  
pp. 158-163.e6 ◽  
Author(s):  
Soonweng Cho ◽  
Biswajit Maharathi ◽  
Karen L. Ball ◽  
Jeffrey A. Loeb ◽  
Jonathan Pevsner
Keyword(s):  
Seizure Control ◽  
Delayed Diagnosis ◽  
Patient Registry ◽  
Syndrome Patient ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

Evolution in Management Trends of Sporadic Vestibular Schwannoma from 1970 through 2019 Using the Acoustic Neuroma Association Patient Registry

2020 ◽  
Author(s):  
Stephen A. Chan ◽  
John P. Marinelli ◽  
Debbie L. Hahs-Vaughn ◽  
Michael J. Link ◽  
Allison Feldman ◽  
...  
Keyword(s):  
Vestibular Schwannoma ◽  
Acoustic Neuroma ◽  
Patient Registry

BIOSYNTHESIS OF CORTICOIDS AND ANDROGENS IN AN ADENOMA FROM A CUSHING'S SYNDROME PATIENT

1963 ◽  
Vol 42 (2) ◽  
pp. 187-194
Author(s):  
Menek Goldstein ◽  
Marcel Gut ◽  
Ralph I. Dorfman ◽  
Louis J. Soffer ◽  
J. Lester Gabrilove
Keyword(s):  
Cushing’S Syndrome ◽  
Cushing’S Disease ◽  
Cushing's Syndrome ◽  
Cushing's Disease ◽  
Syndrome Patient ◽  
Adrenal Tissue

ABSTRACT Incubation of cholesterol-4-14C and pregnenolone-7-3H with a homogenate of adenomatous adrenal tissue from a patient with Cushing's disease yielded 14C and 3H labelled, cortisol, cortisone, 11-deoxycortisol, deoxycorticosterone, dehydroepiandrosterone, and 11β-hydroxy-androst-4-3,17-dione.

Management of a Goldenhar Syndrome patient with a custom-made osteosynthesis mesh

2020 ◽  
Vol 4 (3) ◽  
Author(s):  
Carlo Tian ◽  
Ingrid Tonni ◽  
Umberto Zanetti ◽  
Luca Visconti ◽  
Francesco Daleffe ◽  
...  
Keyword(s):  
Goldenhar Syndrome ◽  
Syndrome Patient ◽  
Custom Made
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