Results 51 to 60 of about 298 (122)

Survival for Children Diagnosed With Wilms Tumour (2012–2022) Registered in the UK and Ireland Improving Population Outcomes for Renal Tumours of Childhood (IMPORT) Study

Pediatric Blood &Cancer, Volume 73, Issue 3, March 2026.
ABSTRACT Background The Improving Population Outcomes for Renal Tumours of childhood (IMPORT) is a prospective clinical observational study capturing detailed demographic and outcome data on children and young people diagnosed with renal tumours in the United Kingdom and the Republic of Ireland.
Naomi Ssenyonga, Angela Lopez‐Cortes, Reem Al‐Saadi, Suzanne Tugnait, Kristina Dzhuma, Catriona Duncan, Gordan Vujanic, Tanzina Chowdhury, Claudia Allemani, Michel P. Coleman, Kathy Pritchard‐Jones, the Children's Cancer and Leukaemia Group (CCLG) Renal Tumour Special Interest Group, Hugh Bishop, Anthony McCarthy, Pamela Kearns, Helen Rees, Amos Burke, Meriel Jenney, Jane Pears, Hamish Wallace, Milind Ronghe, Tanzina Chowdhury, Susan Picton, Emma Ross, Lisa Howell, Bernadette Brennan, Gail Halliday, Richard Grundy, Shaun Wilson, Sucheta Vaidya, Daniel Yeomanson, Jessica Bate, Vesna Pavasovic, Jessica Bate, Sabine Irtan, Jesper Brok, Minou Oostveen, Kristina Dzhuma, Mark Weeks, Richard Williams, Mark Powis, Max Pachl, Bruce Okoye, Naima Smeulders, Gordan Vujanic, Oystein Olsen, Tom Watson, Susan Shelmerdine, Dan Saunders, Angela Lopez-Cortes, Taryn Treger, Tom Jackson, Suzanne Tugnait, Lisa Howell, Tanzina Chowdhury, Sam Behjati, Angela Polanco   +56 more
wiley   +1 more source

Placental Mesenchymal Dysplasia: Ultrasound Characteristics and Diagnostic Pitfalls

Ultrasound International Open, 2020
Introduction Placental mesenchymal dysplasia (PMD) is a rare, benign developmental anomaly with a reported prevalence of 0.02% (Arizawa and Nakayama, 2002).
Alexandros Psarris, Michail Sindos, Ploutarchos Kourtis, Andreas Pampanos, Panagiotis Antsaklis, Marianna Theodora, Maria Eleni Chondrogianni, Georgios Morphopoulos, Dimitrios Loutradis, Georgios Daskalakis   +9 more
doaj   +1 more source

Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Axial slice CT abdomen pelvis with portal venous contrast, revealing a well circumscribed 22 × 20 × 22 mm left adrenocortical adenocarcinoma (ACC) in a patient with neurofibromatosis type 1 (NF1). ABSTRACT Although rare, adrenocortical carcinoma (ACC) should be considered in individuals with neurofibromatosis type 1 (NF1) presenting with adrenal ...
Zachary Pluim, Joseph Do Woong Choi, Benedict Kakala, Jessica Wong, Roderick Clifton‐Bligh, Mark Sywak, Julie Howle   +6 more
wiley   +1 more source

Upper Extremity Manifestations of Beckwith–Wiedemann Syndrome: A Unique Case Presentation and Management of a Pediatric Patient Over 9 Years

Journal of Hand Surgery Global Online
Beckwith–Wiedemann syndrome is a rare congenital genetic condition with various clinical manifestations, notably isolated lateralized overgrowth. Literature regarding hemihyperplasia of the hand and upper extremity is scarce.
Vidhur Sohini, MD, Nancy Jimenez, MD, Savannah Yeh, MD, Jonathan R. Sorelle, MD   +3 more
doaj   +1 more source

Implications of uniparental disomy in forensic kinship testing: A case study of paternal isodisomy on chromosome 3

Journal of Forensic Sciences, Volume 71, Issue 2, Page 1050-1057, March 2026.
Abstract In typical inheritance, a child receives one chromosome of each pair from each parent. In rare cases, however, both chromosomes may be inherited from the same parent, a phenomenon known as uniparental disomy (UPD). In forensic kinship testing, UPD can lead to Mendelian inconsistencies between parent and child, increasing the risk of ...
Hannah Fontanil, Sharlize Pedroza Matute, Thomas Haizel, Sasitaran Iyavoo   +3 more
wiley   +1 more source

Incidence and Outcome of Infants With Cancer in Canada: A Report From Cancer in Young People in Canada Database

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Purpose Infants with cancer are rare and face unique challenges. Our study aims to describe the incidence of infantile cancers in Canada and to compare treatment‐related mortality (TRM) and their outcomes with those of older children. Methods We conducted a retrospective cohort study using the Cancer in Young People in Canada database ...
Samuel Sassine, Hallie Coltin, Maria Kondyli, Monia Marzouki, Nicolas Prud'homme, Nida Usmani, Sylvia Cheng, Lesleigh Abbott, Tony Truong, Sapna Oberoi, Ketan Kulkarni, Josée Brossard, Lynette Bowes, Paul Gibson, Donna L. Johnston, Sarah McKillop, Roona Sinha, Lillian Sung, Catherine Vezina, Laura Wheaton, Alexandra P. Zorzi, Marie‐Claude Pelland‐Marcotte, Thai Hoa Tran   +22 more
wiley   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Joint effects of CD8A and ICOS in Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS)

Journal of Cardiothoracic Surgery
Background Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS) are complex disorders with unclear origins, underscoring the need for in-depth molecular investigations into their mechanisms.
Ling-bing Meng, Yongchao Li, Tingting Lv, Changhua Lv, Lianfeng Liu, Ping Zhang   +5 more
doaj   +1 more source

Syndromes and Disorders Associated with Omphalocele (I): Beckwith–Wiedemann Syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2007
Beckwith–Wiedemann syndrome (BWS, OMIM 130650) is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental mesenchymal dysplasia,
Chih-Ping Chen
doaj   +1 more source

Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening [PDF]

Archives of Endocrinology and Metabolism
SUMMARY Beckwith-Wiedemann syndrome (BWS) is a common genetic congenital disease characterized by somatic overgrowth and its broad clinical spectrum includes pre- and post-natal macrosomia, macroglossia, visceromegaly, increased risk of neonatal ...
Jéssica Mallmann Erbes Schaefer Martins, Barbara Leitao Braga, Klevia Nunes Feitosa Sampaio, Tamires de Souza Garcia, Juliana Van de Sande Lee, Edson Cechinel, Genoir Simoni, Marilza Leal Nascimento, Paulo Cesar Alves da Silva, Maria C. V. Fragoso, Tania A. A. S. Bachega, Mirian Y. Nishi, Berenice B. Mendonca   +12 more
doaj   +1 more source