Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature

Conclusions: The 9q22.3 microdeletion syndrome should be considered at diagnosis of WT in children with dysmorphic features. Conversely, patients with a known 9q22.3 deletion syndrome should be considered for a WT predisposition surveillance program, especially those with overgrowth. The management should be individualized and given the excellent prognosis, and the unknown future risk of metachronous disease or other malignancy, the surgical approach should be carefully considered.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

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Authors: Miraglia E, Laghi A, Iacovino C, Moramarco A, Giustini S PMID: 33026215 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma, representing approximately 40% of all pediatric soft tissue sarcomas. The spindle cell/sclerosing subtype of RMS (SSRMS) accounts for roughly 5% to 10% of all cases of adult and pediatric RMS. Historically, SSRMS were described as paratesticular tumors with an excellent outcome. However, more recent studies have identified unique molecular subgroups of SSRMS, including those with MYOD1 mutations or VGLL2/NCOA2 fusions, which have widely disparate outcomes. The goal of this article is to better describe the biological heterogeneity of SSRMS, which may ...
Source: Surgical Pathology Clinics - Category: Pathology Authors: Source Type: research
Studies describing intravascular involvement in Wilms tumor have focused on illustrating individual institutional experience and the elements of surgical management. Thrombus characteristics like extent, patterns of regression, and correlation with the surgical findings, intraluminal adhesion, and viable tumor in the thrombus, and patency of the inferior vena cava (IVC) have not been systematically described.
Source: Journal of Pediatric Urology - Category: Urology & Nephrology Authors: Source Type: research
AbstractThe 22q11.2 deletion has been identified as a risk factor for multiple neurodevelopmental disorders. Behavioral and cognitive impairments are common among carriers of the 22q11.2 deletion. Parvalbumin expressing (PV+) interneurons provide perisomatic inhibition of excitatory neuronal circuits through GABAA receptors, and a deficit of PV+ inhibitory circuits may underlie a multitude of the behavioral and functional deficits in the 22q11.2 deletion syndrome. We investigated putative deficits of PV+ inhibitory circuits and the associated molecular, morphological, and functional alterations in the prefrontal cortex (PF...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
Publication date: October 2020Source: The Journal of Allergy and Clinical Immunology: In Practice, Volume 8, Issue 9Author(s): Emilia Cirillo, Maria Rosaria Prencipe, Giuliana Giardino, Roberta Romano, Giulia Scalia, Rita Genesio, Lucio Nitsch, Claudio Pignata
Source: The Journal of Allergy and Clinical Immunology: In Practice - Category: Allergy & Immunology Source Type: research
This study highlights the impact of the size of deleted regions, as they may affect the clinical picture of patients with 16p11.2 microdeletion syndrome. Reported cases indicates the key role of the interdisciplinary approach in 16p11.2 microdeletion syndrome diagnostics, as the care of patients with this deletion is based on regular health assessment and adjustment of the nervous system develo pment therapy
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Genome variation profiling by SNP array Homo sapiens Source Type: research
Conclusions: A prognostic nomogram model based on the competing-risks model has been established for predicting the probability of death in patients with RMS. This validated prognostic model may be useful when choosing treatment strategies and for predicting survival. PMID: 33014049 [PubMed]
Source: Journal of Oncology - Category: Cancer & Oncology Tags: J Oncol Source Type: research
Abstract High distress intolerance (DI: often assessed as anxiety sensitivity) and low working memory capacity (WMC) have each been identified as risk factors for negative health behaviors. To our knowledge, these risk factors have only been studied independently. The current study investigated both the independent and interactive effects of DI and WMC in predicting health-related goal attainment in 118 undergraduates who self-selected a health-related goal. Participants received one of three interventions: values clarification, action planning, or a combination of the two. Across these interventions, we found tha...
Source: Cognitive Behaviour Therapy - Category: Psychiatry & Psychology Authors: Tags: Cogn Behav Ther Source Type: research
Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display c...
Source: BMC Medical Genomics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
The microdeletion of chromosome 13 has been rarely reported. Here, we report a 14-year old Asian female with a de novo microdeletion on 13q12.3.
Source: BMC Medical Genomics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
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