Results 41 to 50 of about 298 (122)

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

Cell Proliferation, Volume 59, Issue 6, June 2026.
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley   +1 more source

Excellent Outcomes With High‐Risk Pediatric Hepatoblastoma: A Detailed Analysis of a Large, Single‐Center Experience

Pediatric Transplantation, Volume 30, Issue 6, June 2026.
This large single‐center experience demonstrates that liver transplantation is a highly effective curative strategy for high‐risk pediatric hepatoblastoma. Recurrence risk is driven by tumor biology and treatment timing rather than metastatic disease at diagnosis.
Valeria Ripa, Robert S. Venick, Samer Ebaid, Noah Federman, Nicole Charland, Caitlin J. Thornley, Jonathan Jou, Brandon Pearson, Vatche G. Agopian, Fady M. Kaldas, Suzanne V. McDiarmid, Douglas G. Farmer   +11 more
wiley   +1 more source

Clinicopathological Characteristics and Outcomes of Genitourinary Rhabdomyosarcoma in Two Girls

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Rhabdomyosarcoma (RMS) is a soft tissue neoplasm accounting for about 8% of solid tumors in children. There are mainly four histologic subtypes of RMS: embryonal, alveolar, spindle cell/sclerosing, and pleomorphic. The genitourinary tract is the second most affected primary site of RMS. Genitourinary RMS is more common in young boys than girls.
George Evele, Francine Kouya, George Ngock, Richard Bardin   +3 more
wiley   +1 more source

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk, Christine Damase‐Michel, Joan Morris, Amanda Neville, Ester Garne, Sue Jordan, Anke Rissmann, Alessio Coi, Deirdre Folan, Dieuwke Broekstra, Jennifer M. Broughan, Lea Bruneau, Clara Cavero‐Carbonell, Elly den Hond, Miriam Gatt, Mika Gissler, Babak Khoshnood, Anna Latos Bielenska, Hedvig Nordeng, Ljubica Odak, Mary O'Mahony, Isabelle Perthus, J. Luke Richardson, Florence Rouget, Joanna Sichitiu, David Tucker, Natalya Zymak‐Zakutnya, Maria Loane   +27 more
wiley   +1 more source

Tall stature due to Beckwith Wiedemann Syndrome

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2018
Tall stature is less commonly referred to specialist care. Familial, nutritional and hormonal causes are mainly encountered. Beckwith Wiedemann Syndrome (BWS) is a rare congenital disease, referred as an overgrowth syndrome.
Dharshini Karuppiah, Mithusha Markandu
doaj   +1 more source

Necrotizing enterocolitis following diazoxide therapy for persistent neonatal hypoglycemia

Journal of Pediatric Surgery Case Reports, 2020
Recalcitrant neonatal hypoglycemia poses a treatment challenge for clinicians. When a patient's hypoglycemia does not respond to dextrose infusion, several medication options are available, including diazoxide(1,2).
Christina M. Theodorou, Shinjiro Hirose
doaj   +1 more source

Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision‐making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after ...
Maayke A. de Koning, Sarah Long, Holly E. Evans, Lauren Kelada, Gijs W. E. Santen, Tony Roscioli, Manon Suerink   +6 more
wiley   +1 more source

Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2012
With the advent of prenatal sonography, fetal overgrowth can be easily detected. Prenatal-onset overgrowth can be secondary to normal variants of familial tall stature, familial rapid maturation, diabetic macrosomia, and congenital nesidioblastosis, or ...
Chih-Ping Chen
doaj   +1 more source

PERSISTENT HYPOGLYCAEMIA IN A NEWBORN – CASE REPORT OF A GIRL WITH BECKWITH-WIEDEMANN SYNDROME

Slovenska pediatrija, 2022
Hypoglycaemia is a common metabolic disorder in new-borns. It is defined as a blood sugar level below 2.2 mmol/l in the first 24 hours of life and below 2.6 mmol/l from 24 to 48 hours after birth.
Mojca Kavčič, Jana Lozar Krivec, Magdalena Avbelj Stefanija   +2 more
doaj   +1 more source

Placental mesenchymal dysplasia: case report with gross and histological findings

Autopsy and Case Reports, 2014
Placental mesenchymal dysplasia (PMD) is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi.
Marcello Pecoraro Toscano, Regina Schultz   +1 more
doaj   +1 more source