Parents’ and Families’ Guide

2010 ◽  
Author(s):  
Jessica J. Otis ◽  
James D. Lauderdale
Keyword(s):  
Genetic Disorder ◽  
Good Relationship ◽  
Wagr Syndrome ◽  
Starting Point

When your child is first diagnosed with aniridia or WAGR syndrome, you will have several questions for your child’s ophthalmologist. To be prepared for the first appointment, the best thing to do is make a list of questions. Some questions other parents have had are listed at the end of this chapter. If you choose to, you can use these as a starting point and add more questions to the list as you think of them. At the appointment, be sure to have your list of questions to ask the doctor. Be sure to repeat what the doctor has told you to make sure you understand him or her. If you’re not sure, then ask the doctor to try to explain it in a different way so you can understand. It is your child, and you should be as informed as possible, and the only way to do that is to ask questions and to have a good relationship with your child’s ophthalmologist. Other questions parents have had that you do not necessarily need to ask an ophthalmologist will be discussed in this chapter. When a child is first diagnosed, a question asked by many parents, especially mothers, is, “Was this my fault?” No, it was not. Do not ever blame yourself for your child having aniridia or WAGR syndrome. It is a genetic disorder that you could not have done anything about, unless you do have it yourself. There is no reason for you to feel guilty or to put blame on yourself for something you had no control over. One way to help get over any of these feelings is to join Aniridia Foundation International, where you can meet many other parents and people with aniridia. From meeting and speaking with them, you can get the support you need. . On AFI’s members’ area website, I asked parents, “What questions did you have when your child was diagnosed?” One mother responded, “Mainly I wish someone had told us that he would be able to see at least a little bit and that the disastrous picture that was painted for us at the start was not actually representative of what he would turn out to be.”

scholarly journals Prenatal Diagnosis of WAGR Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Berrin Tezcan ◽  
Philip Rich ◽  
Amarnath Bhide
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Microarray Analysis ◽  
Genetic Disorder ◽  
Fetal Mri ◽  
Septum Pellucidum ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 11 ◽  
Cavum Septum Pellucidum ◽  
Wagr Syndrome

Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.

scholarly journals Pediatric Delayed Union in the Presence of WAGR Syndrome

2020 ◽  
Author(s):  
Matthew Antonucci ◽  
James A Wright
Keyword(s):  
Pain Management ◽  
Lower Extremity ◽  
Genetic Disorder ◽  
Delayed Union ◽  
Trauma Management ◽  
Articular Fracture ◽  
Wagr Syndrome ◽  
The Right ◽  
Insight Into ◽  
Expected Outcomes

In this study, we present the management of an intra-articular fracture in a 13-year-old boy with WAGR Syndrome, an extremely rare genetic disorder. The goal of this study is to provide possible solutions to the complex pain management requirements presenting in the setting of trauma to the right lower extremity. Given the scarcity of literature available with regard to this condition, we not only aim to increase awareness of the disease, but provide insight into trauma management and expected outcomes.

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.

Human Neurofibromas in Co-Culture with Mouse Neurons

1982 ◽  
Vol 40 ◽  
pp. 194-195
Author(s):  
R.L. Martuza ◽  
T. Liszczak ◽  
A. Okun ◽  
T-Y Wang
Keyword(s):  
Schwann Cell ◽  
Schwann Cells ◽  
Genetic Disorder ◽  
Cranial Nerves ◽  
Sympathetic Nerves ◽  
Acoustic Neuromas ◽  
Spinal Roots ◽  
Neural Crest Origin ◽  
Multiple Abnormalities ◽  
Other Neoplasms

Neurofibromatosis (NF) is an autosomal dominant genetic disorder with a prevalence of 1/3,000 births. The NF mutation causes multiple abnormalities of various cells of neural crest origin. Schwann cell tumors (neurofibromas, acoustic neuromas) are the most common feature of neurofibromatosis although meningiomas, gliomas, and other neoplasms may be seen. The schwann cell tumors commonly develop from the schwann cells associated with sensory or sympathetic nerves or their ganglia. Schwann cell tumors on ventral spinal roots or motor cranial nerves are much less common. Since the sensory neuron membrane is known to contain a mitogenic factor for schwann cells, we have postulated that neurofibromatosis may be due to an abnormal interaction between the nerve and the schwann cell and that this interaction may be hormonally modulated. To test this possibility a system has been developed in which an enriched schwannoma cell culture can be obtained and co-cultured with pure neurons.

β-Mannosidosis: Myelin and oligodendrocyte lesions in brain and spinal cord

1984 ◽  
Vol 42 ◽  
pp. 694-695
Author(s):  
Kathryn L. Lovell ◽  
Margaret Z. Jones
Keyword(s):  
Spinal Cord ◽  
Nervous System ◽  
Genetic Disorder ◽  
Neurological Deficits ◽  
Axonal Spheroids ◽  
South Wales ◽  
Pendular Nystagmus ◽  
Myelin Deficits ◽  
Recessive Defect ◽  
Brain And Spinal Cord

Caprine β-mannosidosis, an autosomal recessive defect of glycoprotein catabolism, is associated with a deficiency of tissue and plasma -mannosidase and with tissue accumulation and urinary excretion of oligosaccharides, including the trisaccharide Man(β1-4)GlcNAc(βl-4)GlcNAc and the disaccharide Man(β1-4)GlcNAc. This genetic disorder is evident at birth, with severe neurological deficits including a marked intention tremor, pendular nystagmus, ataxia and inability to stand. Major pathological characteristics described in Nubian goats in Michigan and in Anglo-Nubian goats in New South Wales include widespread cytoplasmic vacuolation in the nervous system and viscera, axonal spheroids, and severe myelin paucity in the brain but not spinal cord or peripheral nerves. Light microscopic examination revealed marked regional variation in the severity of central nervous system myelin deficits, with some brain areas showing nearly complete absence of myelin and other regions characterized by the presence of 25-50% of the control number of myelin sheaths.

Crystal structure images of large gold clusters and growing crystals by HRTEM

1984 ◽  
Vol 42 ◽  
pp. 428-429
Author(s):  
L.R. Wallenberg ◽  
J.-O. Bovin ◽  
G. Schmid
Keyword(s):  
Crystal Structure ◽  
Nucleation And Growth ◽  
Close Packing ◽  
Gold Clusters ◽  
Molecular Weight Determination ◽  
Growth Mechanisms ◽  
Starting Point ◽  
Different Types ◽  
Nucleation And Growth Mechanisms ◽  
Points Of View

Metallic clusters are interesting from various points of view, e.g. as a mean of spreading expensive catalysts on a support, or following heterogeneous and homogeneous catalytic events. It is also possible to study nucleation and growth mechanisms for crystals with the cluster as known starting point.Gold-clusters containing 55 atoms were manufactured by reducing (C6H5)3PAuCl with B2H6 in benzene. The chemical composition was found to be Au9.2[P(C6H5)3]2Cl. Molecular-weight determination by means of an ultracentrifuge gave the formula Au55[P(C6H5)3]Cl6 A model was proposed from Mössbauer spectra by Schmid et al. with cubic close-packing of the 55 gold atoms in a cubeoctahedron as shown in Fig 1. The cluster is almost completely isolated from the surroundings by the twelve triphenylphosphane groups situated in each corner, and the chlorine atoms on the centre of the 3x3 square surfaces. This gives four groups of gold atoms, depending on the different types of surrounding.

Two isoprenylated flavonoids from Dorstenia psilurus activate AMPK, stimulate glucose uptake, inhibit glucose production and lower glycemia

2019 ◽  
Vol 476 (24) ◽  
pp. 3687-3704 ◽  
Author(s):  
Aphrodite T. Choumessi ◽  
Manuel Johanns ◽  
Claire Beaufay ◽  
Marie-France Herent ◽  
Vincent Stroobant ◽  
...  
Keyword(s):  
Glucose Uptake ◽  
Human Cancer ◽  
Glucose Production ◽  
Liver Mitochondria ◽  
New Drugs ◽  
Structural Isomer ◽  
Rat Liver Mitochondria ◽  
Ionization Mass ◽  
Ampk Activation ◽  
Starting Point

Root extracts of a Cameroon medicinal plant, Dorstenia psilurus, were purified by screening for AMP-activated protein kinase (AMPK) activation in incubated mouse embryo fibroblasts (MEFs). Two isoprenylated flavones that activated AMPK were isolated. Compound 1 was identified as artelasticin by high-resolution electrospray ionization mass spectrometry and 2D-NMR while its structural isomer, compound 2, was isolated for the first time and differed only by the position of one double bond on one isoprenyl substituent. Treatment of MEFs with purified compound 1 or compound 2 led to rapid and robust AMPK activation at low micromolar concentrations and increased the intracellular AMP:ATP ratio. In oxygen consumption experiments on isolated rat liver mitochondria, compound 1 and compound 2 inhibited complex II of the electron transport chain and in freeze–thawed mitochondria succinate dehydrogenase was inhibited. In incubated rat skeletal muscles, both compounds activated AMPK and stimulated glucose uptake. Moreover, these effects were lost in muscles pre-incubated with AMPK inhibitor SBI-0206965, suggesting AMPK dependency. Incubation of mouse hepatocytes with compound 1 or compound 2 led to AMPK activation, but glucose production was decreased in hepatocytes from both wild-type and AMPKβ1−/− mice, suggesting that this effect was not AMPK-dependent. However, when administered intraperitoneally to high-fat diet-induced insulin-resistant mice, compound 1 and compound 2 had blood glucose-lowering effects. In addition, compound 1 and compound 2 reduced the viability of several human cancer cells in culture. The flavonoids we have identified could be a starting point for the development of new drugs to treat type 2 diabetes.

Overview of Current Approaches to Aural Rehabilitation for Adults With Cochlear Implants

2020 ◽  
Vol 5 (5) ◽  
pp. 1175-1187
Author(s):  
Rachel Glade ◽  
Erin Taylor ◽  
Deborah S. Culbertson ◽  
Christin Ray
Keyword(s):  
Health Care ◽  
Clinical Practice ◽  
Cochlear Implants ◽  
Practice Patterns ◽  
The United States ◽  
Care Providers ◽  
Aural Rehabilitation ◽  
Starting Point ◽  
Clinical Models ◽  
Hearing Health

Purpose This clinical focus article provides an overview of clinical models currently being used for the provision of comprehensive aural rehabilitation (AR) for adults with cochlear implants (CIs) in the Unites States. Method Clinical AR models utilized by hearing health care providers from nine clinics across the United States were discussed with regard to interprofessional AR practice patterns in the adult CI population. The clinical models were presented in the context of existing knowledge and gaps in the literature. Future directions were proposed for optimizing the provision of AR for the adult CI patient population. Findings/Conclusions There is a general agreement that AR is an integral part of hearing health care for adults with CIs. While the provision of AR is feasible in different clinical practice settings, service delivery models are variable across hearing health care professionals and settings. AR may include interprofessional collaboration among surgeons, audiologists, and speech-language pathologists with varying roles based on the characteristics of a particular setting. Despite various existing barriers, the clinical practice patterns identified here provide a starting point toward a more standard approach to comprehensive AR for adults with CIs.

Indirect Assessment of Attitudes with Response-Time-Based Measures

2006 ◽  
Vol 37 (3) ◽  
pp. 131-139 ◽  
Author(s):  
Juliane Degner ◽  
Dirk Wentura ◽  
Klaus Rothermund
Keyword(s):  
Social Cognitive ◽  
Incremental Validity ◽  
Self Report ◽  
Small Scale ◽  
Implicit Measures ◽  
Scale Theory ◽  
Starting Point ◽  
Self Reports ◽  
Predicting Behavior ◽  
Social Cognitive Theories

Abstract: We review research on response-latency based (“implicit”) measures of attitudes by examining what hopes and intentions researchers have associated with their usage. We identified the hopes of (1) gaining better measures of interindividual differences in attitudes as compared to self-report measures (quality hope); (2) better predicting behavior, or predicting other behaviors, as compared to self-reports (incremental validity hope); (3) linking social-cognitive theories more adequately to empirical research (theory-link hope). We argue that the third hope should be the starting point for using these measures. Any attempt to improve these measures should include the search for a small-scale theory that adequately explains the basic effects found with such a measure. To date, small-scale theories for different measures are not equally well developed.

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