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Clinical Guidelines and Standards · Diagnostic Criteria and Classification

Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management

Duffy KA, Cielo CM, Cohen JL, Gonzalez-Gandolfi CX, Griff JR, Hathaway ER, Kupa J, Taylor JA, Wang KH, Ganguly A, Deardorff MA, Kalish JM

American journal of medical genetics. Part C, Seminars in medical genetics, 2019
DOI 10.1002/ajmg.c.31740 PMID 31469230 PMC PMC7959855

Abstract

Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and cancer predisposition disorder. Due to both varying molecular defects involving chromosome 11p15 and tissue mosaicism, patients can present with a variety of clinical features, leading to the newly defined Beckwith-Wiedemann spectrum (BWSp). The BWSp can be further divided into three subsets of patients: those presenting with classic features, those presenting with isolated lateralized overgrowth (ILO) and those not fitting into the previous two categories, termed atypical BWSp. Previous reports of patients with BWS have focused on those with the more recognizable, classic features, and limited information is available on those who fit into the atypical and ILO categories. Here, we present the first cohort of patients recruited across the entire BWSp, describe clinical features and molecular diagnostic characteristics, and provide insight into practical diagnosis and management recommendations that we have gained from this cohort.

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Environmental Exposures · Textiles and Dyes

Contamination of textile dyes in aquatic environment: Adverse impacts on aquatic ecosystem and human health, and its management using bioremediation

Dutta S et al., 2024 Journal of Environmental Management

Textile dyes are the burgeoning environmental contaminants across the world. They might be directly disposed of from textile industries into the aquatic bodies, which act as the direct source for the entire ecosystem, ultimately impacting the human beings. Hence, it is essential to dissect the potential adverse outcomes of textile dye exposure on aquatic plants, aquatic fauna, terrestrial entities, and humans. Analysis of appropriate literature has revealed that textile dye effluents could affect the aquatic biota by disrupting their growth and reproduction. Various aquatic organisms are targeted by textile dye effluents. In such organisms, these chemicals affect their development, behavior, and induce oxidative stress. General populations of humans are exposed to textile dyes via the food chain and drinking contaminated water. In humans, textile dyes are biotransformed into electrophilic intermediates and aromatic amines by the enzymes of the cytochrome family. Textile dyes and their biotransformed products form the DNA and protein adducts at sub-cellular moiety. Moreover, these compounds catalyze the production of free radicals and oxidative stress, and trigger the apoptotic cascades to produce lesions in multiple organs. In addition, textile dyes modulate epigenetic factors like DNA methyltransferase and histone deacetylase to promote carcinogenesis. Several bioremediation approaches involving algae, fungi, bacteria, biomembrane filtration techniques, etc., have been tested and some other hybrid systems are currently under investigation to treat textile dye effluents. However, many such approaches are at the trial stage and require further research to develop more efficient, cost-effective, and easy-to-handle techniques.

Related research

Safety and Risks · Birth Defects

Child with Beckwith-Wiedemann syndrome born after assisted reproductive techniques to an human immunodeficiency virus serodiscordant couple

Kuentz P et al., 2011 Fertility and Sterility

To report a child with Beckwith-Wiedemann syndrome (BWS) born after assisted reproductive technology (ART) to an HIV serodiscordant couple. Case report. Academic medical center.Patient(s)A child with BWS born after ART to an HIV serodiscordant couple.Intervention(s)Assisted reproductive techniques.Main outcome measure(s)ART and HIV.Result(s)Since 2003, it has been suggested that there is an association between ART and BWS, which is a congenital overgrowth syndrome characterized by macrosomia, macroglossia, visceromegaly, umbilical and abdominal wall abnormalities, and an increased risk of developing embryonal tumors in childhood. It is a multigenic disorder resulting from genetic or epigenetic alterations of genes on chromosome 11p15. Methylation errors account for 50%-60% of sporadic cases and almost 100% of cases born after ART. We report the birth of a child diagnosed with BWS arising from an ART cycle to an HIV serodiscordant couple with no history of infertility. This case cannot constitute conclusive evidence but it raises various questions.Conclusion(s)Assisted reproductive technology seems to be in the causal pathway but a male/female factor or an iatrogenic factor is also possible.

Safety and Risks · Birth Defects

Is it the patient or the IVF? Beckwith-Wiedemann syndrome in both spontaneous and assisted reproductive conceptions

Strawn EY et al., 2010 Fertility and Sterility

To describe two children diagnosed with Beckwith-Wiedemann Syndrome (BWS) arising from a spontaneous conception and an assisted reproductive technology (ART) cycle from one patient with a long-standing history of subfertility. Case report. Academic medical center.Patient(s)Two children with the morphologic features of BWS as a result of a spontaneous conception and an ART cycle from the same patient.Intervention(s)Assisted reproductive technology.Main outcome measure(s)Neonatal and pediatric morphologic evaluation by geneticists.Result(s)Two children with the morphologic features consistent with the criteria for the diagnosis of BWS.Conclusion(s)Patients with subfertility may be carriers for genetic disorders that can be passed to a child with or without the use of assisted reproductive technologies (ART). The use of ART may bypass natural selection mechanisms.

Clinical Guidelines and Standards › Diagnostic Criteria and Classification › Staging and Classification Systems
Kelly A Duffy, Christopher M Cielo, Jennifer L Cohen, Christina X Gonzalez-Gandolfi, Jessica R Griff, Evan R Hathaway, Jonida Kupa, Jesse A Taylor, Kathleen H Wang, Matthew A Deardorff, Jennifer M Kalish
K Duffy, Chris Cielo, C Cielo, Jen Cohen, Jenny Cohen, J Cohen, C Gonzalez-Gandolfi, Jess Griff, J Griff, E Hathaway, J Kupa, J Taylor, K Wang, Matt Deardorff, M Deardorff, Jen Kalish, Jenny Kalish, J Kalish
PMID 31469230 31469230 DOI 10.1002/ajmg.c.31740 10.1002/ajmg.c.31740 Duffy et al. 2019, Duffy 2019

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