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Beckwith-Wiedemann Syndrome (beckwith-wiedemann + syndrome)

Distribution by Scientific Domains
Life Sciences40%

Selected Abstracts

Assisted reproductive technologies and birth defects

CONGENITAL ANOMALIES, Issue 2 2005
Kohei Shiota
ABSTRACT In vitro fertilization (IVF) and other assisted reproductive technologies (ART) are effective treatments for infertility and are widely provided at infertility clinics. Although IVF and related ART procedures are generally considered safe, some studies have suggested an excess occurrence of major malformations, low birth-weight and other perinatal complications in babies conceived by ART. Further, it was recently reported that IVF and intracytoplasmic sperm injection (ICSI) are associated with imprinting disorders in the offspring such as Beckwith-Wiedemann syndrome and Angelman syndrome. Here we review the human and animal studies investigating the potential risks of ART, and discuss the need for further investigation. [source]

A probable case of gigantism in a fifth Dynasty skeleton from the Western Cemetery at Giza, Egypt

INTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 4 2005
D. M. MulhernArticle first published online: 31 DEC 200
Abstract Pituitary gigantism is a rare endocrine disorder caused by excess secretion of growth hormone during childhood. Individuals with this condition exhibit unusually tall stature due to prolonged growth as well as associated degenerative changes. Continued secretion of excess growth hormone during adulthood results in acromegaly, a related condition that results in bony overgrowth of the skull, hands and feet. The remains of a large adult male, probably in his late 20s or early 30s, from a Fifth Dynasty tomb (2494,2345 BC) were excavated in 2001 from Cemetery 2500 in the Western Cemetery at Giza, Egypt, as part of the Howard University Giza Cemetery Project. This individual exhibits characteristics of pituitary gigantism, including tall but normally-proportioned stature, delayed epiphyseal union, a large sella turcica, advanced arthritis and a transepiphyseal fracture of the left femoral head. Additional pathological features, including osteopenia and thinness of the parietal bones, suggest that this individual may also have been hypogonadal. Craniometric comparisons with other ancient Egyptian groups as well as modern normal and acromegalic patients show some tendency toward acromegalic skull morphology. Differential diagnosis includes eunuchoid gigantism, Sotos syndrome, Beckwith-Wiedemann syndrome, Marfan syndrome, homocystinuria, Weaver syndrome and Klinefelter syndrome. In conclusion, the pathological features associated with this skeleton are more consistent with pituitary gigantism than any of the other syndromes that result in skeletal overgrowth. Copyright © 2004 John Wiley & Sons, Ltd. [source]

Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: A cost-effective model,

PEDIATRIC BLOOD & CANCER, Issue 4 2001
D. Elizabeth McNeil MD
Abstract Background We undertook a cost-benefit analysis of screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndrome (BWS), a known cancer predisposition syndrome. The purpose of this analysis was twofold: first, to assess whether screening in children with BWS has the potential to be cost-effective; second, if screening appears to be cost-effective, to determine which parameters would be most important to assess if a screening trial were initiated. Procedures We used data from the BWS registry at the National Cancer Institute, the National Wilms Tumor Study (NWTS), and large published series to model events for two hypothetical cohorts of 1,000 infants born with BWS. One hypothetical cohort was screened for cancer until a predetermined age, representing the base case. The other cohort was unscreened. For our base case, we assumed: (a) sonography examinations three times yearly (triannually) from birth until 7 years of age; (b) screening would result in one stage shift downward at diagnosis for Wilms tumor and hepatoblastoma; (c) 100% sensitivity and 95% specificity for detecting clinical stage I Wilms tumor and hepatoblastoma; (d) a 3% discount rate; (e) a false positive result cost of $402. We estimated mortality rates based on published Wilms tumor and hepatoblastoma stage specific survival. Results Using the base case, screening a child with BWS from birth until 4 years of age results in a cost per life year saved of $9,642 while continuing until 7 years of age results in a cost per life-year saved of $14,740. When variables such as cost of screening examination, discount rate, and effectiveness of screening were varied based on high and low estimates, the incremental cost per life-year saved for screening up until age four remained comparable to acceptable population based cancer screening ranges (<,$50,000 per life year saved). Conclusions Under our model's assumptions, abdominal sonography examinations in children with BWS represent a reasonable strategy for a cancer screening program. A cancer screening trial is warranted to determine if, when, and how often children with BWS should be screened and to determine cost-effectiveness in clinical practice. Med Pediatr Oncol 2001;37:349,356. Published 2001 Wiley-Liss, Inc. [source]

Genomic imprinting in the development and evolution of psychotic spectrum conditions

BIOLOGICAL REVIEWS, Issue 4 2008
Bernard Crespi
Abstract I review and evaluate genetic and genomic evidence salient to the hypothesis that the development and evolution of psychotic spectrum conditions have been mediated in part by alterations of imprinted genes expressed in the brain. Evidence from the genetics and genomics of schizophrenia, bipolar disorder, major depression, Prader-Willi syndrome, Klinefelter syndrome, and other neurogenetic conditions support the hypothesis that the etiologies of psychotic spectrum conditions commonly involve genetic and epigenetic imbalances in the effects of imprinted genes, with a bias towards increased relative effects from imprinted genes with maternal expression or other genes favouring maternal interests. By contrast, autistic spectrum conditions, including Kanner autism, Asperger syndrome, Rett syndrome, Turner syndrome, Angelman syndrome, and Beckwith-Wiedemann syndrome, commonly engender increased relative effects from paternally expressed imprinted genes, or reduced effects from genes favouring maternal interests. Imprinted-gene effects on the etiologies of autistic and psychotic spectrum conditions parallel the diametric effects of imprinted genes in placental and foetal development, in that psychotic spectrum conditions tend to be associated with undergrowth and relatively-slow brain development, whereas some autistic spectrum conditions involve brain and body overgrowth, especially in foetal development and early childhood. An important role for imprinted genes in the etiologies of psychotic and autistic spectrum conditions is consistent with neurodevelopmental models of these disorders, and with predictions from the conflict theory of genomic imprinting. [source]

Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: A cost-effective model,

PEDIATRIC BLOOD & CANCER, Issue 4 2001
D. Elizabeth McNeil MD
Abstract Background We undertook a cost-benefit analysis of screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndrome (BWS), a known cancer predisposition syndrome. The purpose of this analysis was twofold: first, to assess whether screening in children with BWS has the potential to be cost-effective; second, if screening appears to be cost-effective, to determine which parameters would be most important to assess if a screening trial were initiated. Procedures We used data from the BWS registry at the National Cancer Institute, the National Wilms Tumor Study (NWTS), and large published series to model events for two hypothetical cohorts of 1,000 infants born with BWS. One hypothetical cohort was screened for cancer until a predetermined age, representing the base case. The other cohort was unscreened. For our base case, we assumed: (a) sonography examinations three times yearly (triannually) from birth until 7 years of age; (b) screening would result in one stage shift downward at diagnosis for Wilms tumor and hepatoblastoma; (c) 100% sensitivity and 95% specificity for detecting clinical stage I Wilms tumor and hepatoblastoma; (d) a 3% discount rate; (e) a false positive result cost of $402. We estimated mortality rates based on published Wilms tumor and hepatoblastoma stage specific survival. Results Using the base case, screening a child with BWS from birth until 4 years of age results in a cost per life year saved of $9,642 while continuing until 7 years of age results in a cost per life-year saved of $14,740. When variables such as cost of screening examination, discount rate, and effectiveness of screening were varied based on high and low estimates, the incremental cost per life-year saved for screening up until age four remained comparable to acceptable population based cancer screening ranges (<,$50,000 per life year saved). Conclusions Under our model's assumptions, abdominal sonography examinations in children with BWS represent a reasonable strategy for a cancer screening program. A cancer screening trial is warranted to determine if, when, and how often children with BWS should be screened and to determine cost-effectiveness in clinical practice. Med Pediatr Oncol 2001;37:349,356. Published 2001 Wiley-Liss, Inc. [source]