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.

LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome

2019 ◽  
Vol 28 (19) ◽  
pp. 3323-3326 ◽  
Author(s):  
Andrey V Marakhonov ◽  
Tatyana A Vasilyeva ◽  
Anna A Voskresenskaya ◽  
Natella V Sukhanova ◽  
Vitaly V Kadyshev ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Wilms Tumor ◽  
Chromosome Region ◽  
Genetic Disorder ◽  
Tumor Development ◽  
Gene Deletions ◽  
Wagr Syndrome ◽  
Genitourinary Anomalies ◽  
Congenital Aniridia ◽  
Chromosome Regions

Abstract WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms’ tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (mental retardation). It is associated with WAGR-region deletions in the 11p13 chromosome region. Our previous study of congenital aniridia patients revealed a noticeable number of aniridia patients with WAGR-region deletions but without Wilms’ tumor in their medical history. We assessed the involvement of other neighboring genes from affected chromosome regions in the patients with and without Wilms’ tumor. Reliable confidence was obtained for the LMO2 gene, which is significantly more often deleted in patients with nephroblastoma. Thus, our study presents genetic evidence that the development of Wilms tumors in WAGR syndrome patients should be attributed to the deletion of WT1 and LMO2 rather than WT1 only.

Role of Cardiac MRI in Detecting Familial Hypertrophic Cardiomyopathy: Review

2016 ◽  
Vol 1 (1) ◽  
pp. 4
Author(s):  
Marymol Koshy ◽  
Bushra Johari ◽  
Mohd Farhan Hamdan ◽  
Mohammad Hanafiah
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Magnetic Resonance ◽  
Genetic Disorder ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Non Invasive ◽  
Wide Range ◽  
Proper Diagnosis ◽  
Magnetic Resonance Imaging Mri ◽  
Potential Use

Hypertrophic cardiomyopathy (HCM) is a global disease affecting people of various ethnic origins and both genders. HCM is a genetic disorder with a wide range of symptoms, including the catastrophic presentation of sudden cardiac death. Proper diagnosis and treatment of this disorder can relieve symptoms and prolong life. Non-invasive imaging is essential in diagnosing HCM. We present a review to deliberate the potential use of cardiac magnetic resonance (CMR) imaging in HCM assessment and also identify the risk factors entailed with risk stratification of HCM based on Magnetic Resonance Imaging (MRI).

scholarly journals Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells.

1989 ◽  
Vol 9 (4) ◽  
pp. 1799-1803 ◽  
Author(s):  
A E Reeve ◽  
S A Sih ◽  
A M Raizis ◽  
A P Feinberg
Keyword(s):  
Mental Retardation ◽  
Tumor Cells ◽  
Germ Line ◽  
Wilms Tumor ◽  
Globin Gene ◽  
Allelic Loss ◽  
Chromosomal Band ◽  
Chromosome 11 ◽  
Gamma Globin ◽  
Wagr Syndrome

Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible germ line deletion of chromosomal band 11p13. In accordance with the Knudson hypothesis of two-hit carcinogenesis, the absence of this chromosomal band suggests that loss of both alleles of a gene at 11p13 causes Wilms' tumor. Consistent with this model, chromosomes from sporadically occurring Wilms' tumor cells frequently show loss of allelic heterozygosity at polymorphic 11p15 loci, and therefore it has been assumed that allelic loss extends proximally to include 11p13. We report here that in samples from five sporadic Wilms' tumors, allelic loss occurred distal to the WAGR locus on 11p13. In cells from one tumor, mitotic recombination occurred distal to the gamma-globin gene on 11p15.5. Thus, allelic loss in sporadic Wilms' tumor cells may involve a second locus on 11p.

A Comprehensive Assessment Tool for Patient Registry Software Systems: The CIPROS Checklist

2015 ◽  
Vol 54 (05) ◽  
pp. 447-454 ◽  
Author(s):  
U. Mansmann ◽  
D. Lindoerfer
Keyword(s):  
Systematic Review ◽  
Critical Appraisal ◽  
Assessment Tool ◽  
Wide Spectrum ◽  
Patient Registry ◽  
Software Systems ◽  
Software System ◽  
Review Of The Literature ◽  
Patient Registries ◽  
Wide Range

SummaryBackground: Patient registries are an important instrument in medical research. Often their structure is complex and their implementation uses composite software systems to meet the wide spectrum of challenges.Objectives: For the implementation of a registry, there is a wide range of commercial, open source, and self-developed systems available and a minimal standard for the critical appraisal of their architecture is needed.Methods: We performed a systematic review of the literature to define a catalogue of relevant criteria to construct a minimal appraisal standard.Results: The CIPROS list is developed based on 64 papers which were found by our systematic review. The list covers twelve sections and contains 72 items.Conclusions: The CIPROS list supports developers to assess requirements on existing systems and strengthens the reporting of patient registry software system descriptions. It can be a first step to create standards for patient registry software system assessments.

scholarly journals Fish Allergy Around the World—Precise Diagnosis to Facilitate Patient Management

2021 ◽  
Vol 2 ◽  
Author(s):  
Tanja Kalic ◽  
Christian Radauer ◽  
Andreas L. Lopata ◽  
Heimo Breiteneder ◽  
Christine Hafner
Keyword(s):  
Fish Species ◽  
False Negative ◽  
Management Approach ◽  
Fish Allergy ◽  
Wide Range ◽  
Precise Diagnosis ◽  
Diagnostic Approaches ◽  
Geographic Regions

The accurate and precise diagnosis of IgE-mediated fish allergy is one of the biggest challenges in allergy diagnostics. A wide range of fish species that belong to evolutionary distant classes are consumed globally. Moreover, each fish species may contain multiple isoforms of a given allergen that often differ in their allergenicity. Recent studies indicated that the cross-reactivity between different fish species is limited in some cases and depends on the evolutionary conservation of the involved allergens. Fish allergens belong to several protein families with different levels of stability to food processing. Additionally, different preparation methods may contribute to specific sensitization patterns to specific fish species and allergens in different geographic regions. Here, we review the challenges and opportunities for improved diagnostic approaches to fish allergy. Current diagnostic shortcomings include the absence of important region-specific fish species in commercial in vitro and in vivo tests as well as the lack of their standardization as has been recently demonstrated for skin prick test solutions. These diagnostic shortcomings may compromise patients' safety by missing some of the relevant species and yielding false negative test results. In contrast, the avoidance of all fish as a common management approach is usually not necessary as many patients may be only sensitized to specific species and allergens. Although food challenges remain the gold standard, other diagnostic approaches are investigated such as the basophil activation test. In the context of molecular allergy diagnosis, we discuss the usefulness of single allergens and raw and heated fish extracts. Recent developments such as allergen microarrays offer the possibility to simultaneously quantify serum IgE specific to multiple allergens and allergen sources. Such multiplex platforms may be used in the future to design diagnostic allergen panels covering evolutionary distant fish species and allergens relevant for particular geographic regions.

scholarly journals A Patient-Centric Care Approach to Facilitate the Design of an Artificial Intelligence Application in Geriatric Care Management of Heart Failure Readmissions

2021 ◽  
Vol 3 (5) ◽  
pp. 01-07
Author(s):  
Thomas Wan
Keyword(s):  
Heart Failure ◽  
Decision Support ◽  
Human Factors ◽  
Care Management ◽  
Randomized Clinical Trials ◽  
Self Care ◽  
Geriatric Care ◽  
The Self ◽  
Management Approach ◽  
Heart Failure Readmissions

The examination of human factors’ role in moderating medical interventions and hospitalizations and/or rehospitalization of heart failure (HF) patients. Objectives: The primary purpose of this study is two-fold: 1) to show relevant human factors influencing the rehospitalization of persons with heart failure by developing a systematic algorithm generated from the cited randomized trials; and 2) to examine how the self-care principles, such as choice/efficacy, restfulness, healing environment, activity, trust, interpersonal relationships, outlook, and nutrition, may reduce heart failure readmissions. Methods: The meta-analytic approach generated a theoretically relevant and empirically validated self-care management decision support protocol for HF. Statistical modeling of the effects of eight human factors for the reduction of HF readmissions was presented. Findings: The systematic review and meta-analysis approach documents the results of randomized clinical trials that affect heart failure hospitalization by selected human factors. A patient-centered decision support system was developed to facilitate the self-care management of heart failure. Discussion: Our research generates systematic knowledge about the importance of human-factor principles in the provision of geriatric care for heart failure. Using shared decision-making strategies under the population health management approach could enhance the quality of care and reduce costly readmissions of heart failure, particularly for elderly patients.

scholarly journals Difficulties in the differential diagnosis of tumors in the female reproductive system

2020 ◽  
Vol 13 (4) ◽  
pp. 369-383
Author(s):  
Ju. V. Nosova ◽  
A. E. Solopova ◽  
G. N. Khabas ◽  
A. V. Asaturova
Keyword(s):  
Differential Diagnosis ◽  
Inflammatory Reaction ◽  
Wilms Tumor ◽  
Imaging Techniques ◽  
Uterine Cancer ◽  
Diagnostic Errors ◽  
Diagnostic Tools ◽  
Cytokeratin 20 ◽  
Pelvic Tumors ◽  
Wide Range

Introduction. Most pelvic tumors originate from reproductive organs. Even using the up-to-date imaging techniques, radiologists experience difficulties in determining the source of the lesion since a wide range of tumors look similar to each other on the distorted backdrop of pelvic anatomy, large invasive formations, and an active inflammatory reaction of the pelvic peritoneum.Aim: to evaluate “pitfalls” in the preoperative noninvasive diagnosis of female pelvic tumors by applying the clinical diagnostic tools.Materials and methods. Four rare clinical cases were analyzed; all of them posed difficulties in interpreting the diagnostic examination due to their atypical characteristics. There were 2 cases of ovarian cancer, initially identified by an experienced team of radiologists as benign pelvic pathology. Also, there were fibroids with degeneration, marked proliferative activity, and a massive inflammatory reaction of the peritoneum – that was diagnosed as a malignant ovarian tumor. Tumor biopsies were examined using morphological and immunohistochemical methods (with the р16, Ki-67, p53, CD 117, S 100, CD 34 markers). Immunohistochemical (IHC) studies were performed with formalin-fixed paraffin materials using the avidin-biotin-peroxidase method. Antibodies to estrogen receptor (ER), progesterone receptor (PR), cytokeratin 7 (CK7), cytokeratin 20 (CK20) and Wilms tumor protein 1 (WT1) were also used.Results. A thorough analysis of the clinical picture and a joint multidisciplinary discussion (gynecologist, oncologist, radiologist, etc.) made it possible to avoid diagnostic errors.Conclusion. These observations demonstrate the difficulties of differential diagnosis between ovarian metastases of uterine cancer and primary multiple ovarian and uterine cancer, as well between leiomyosarcoma and uterine myoma with high mitotic activity. Obviously, the change in diagnosis calls for a change in the treatment strategy.

scholarly journals A Case of Wilms Tumor with a Tumor Thrombus in a Boy with WAGR Syndrome

2020 ◽  
Vol 27 (2) ◽  
pp. 134-137
Author(s):  
Soojung Lee ◽  
Hyo Jin Kim ◽  
In-sang Jeon
Keyword(s):  
Tumor Thrombus ◽  
Wilms Tumor ◽  
Wagr Syndrome

scholarly journals Survey on Approaches to Detect Sinkhole Attacks in Wireless Sensor Networks

2021 ◽  
Vol 10 (4) ◽  
pp. 1-6
Keyword(s):  
Key Management ◽  
Low Cost ◽  
Geographical Area ◽  
Wireless Sensor ◽  
Management Approach ◽  
Hop Count ◽  
Network Attacks ◽  
Wide Range ◽  
Message Digest ◽  
Central Station

Due to the wide range of applications in public and military domains, wireless sensor network (WSN) is evolving as a popular technology. This WSN consists of a large number of sensors that are spread across a geographical area thatare self-configuring in nature. These nodes are of low cost and resource-constrained nodes. Because these reasons the network becomes vulnerable to many network attacks. There are many types of attacks among which one of the serious attacks is the sinkhole attack, which is one of the destructive routing attacks. It causes the adversary node to attract all or most of the traffic from the neighbors by broadcasting false routing updates of having the shortest path to the central station. This paper is a survey on various methods implemented to overcome sinkhole attacks like Hop Count Monitoring scheme, Key Management Approach, Message-Digest Algorithm.

scholarly journals Herbicide and Native Grass Seeding Effects on Sulfur Cinquefoil (Potentilla Recta)-Infested Grasslands

2008 ◽  
Vol 1 (1) ◽  
pp. 50-58 ◽  
Author(s):  
Bryan A. Endress ◽  
Catherine G. Parks ◽  
Bridgett J. Naylor ◽  
Steven R. Radosevich
Keyword(s):  
Ecological Restoration ◽  
Early Summer ◽  
Grass Species ◽  
Management Approach ◽  
Native Plant ◽  
Herbicide Application ◽  
Native Grass ◽  
Native Plant Species ◽  
Wide Range ◽  
Exotic Grass

AbstractSulfur cinquefoil is an exotic, perennial forb that invades a wide range of ecosystems in western North America. It forms dense populations and often threatens native plant species and communities. In this study, we address the following questions: (1) what herbicides, rates, and application times are most effective at reducing sulfur cinquefoil abundance while having the least impact on native plants; and (2) does postherbicide seeding with native grass species increase native plant abundance? In 2002, we experimentally examined the effects of five herbicides (dicamba + 2,4-D; metsulfuron-methyl; triclopyr; glyphosate; and picloram) at two rates of application (low and high), three application times (early summer, fall, and a combined early summer–fall treatment), and two postherbicide seed addition treatments (seeded or not seeded) on sulfur cinquefoil abundance, plant community composition, and species richness. Experimental plots were monitored through 2005. Picloram was the most effective herbicide at reducing sulfur cinquefoil density, the proportion of remaining adult plants, and seed production. The effects of picloram continued to be evident after 3 yr, with 80% reduction of sulfur cinquefoil in 2005. In addition, seeding of native grass seeds alone (no herbicide application) reduced the proportion of sulfur cinquefoil plants that were reproductively active. Despite reductions in sulfur cinquefoil abundance, all treatments remained dominated by exotic species because treated areas transitioned from exotic forb- to exotic grass-dominated communities. However, a one-time herbicide application controlled sulfur cinquefoil for at least 3 yr, and therefore might provide a foundation to begin ecological restoration. Herbicide applications alone likely are to be insufficient for long-term sulfur cinquefoil control without further modification of sites through native grass or forb seeding. Integrating herbicides with native plant seeding to promote the development of plant communities that are resistant to sulfur cinquefoil invasion is a promising management approach to ecological restoration.

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