Results 91 to 100 of about 442,293 (268)

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome

Frontiers in Genetics
Background: Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities.
Carmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, Viviana P. Beltrán-Salazar, Juan Pablo Trujillo-Quintero, Nuria Capdevila, Anna Brunet-Vega, Neus Baena, A Arockia Jeyaprakash, A Arockia Jeyaprakash, Victor Martinez-Glez, Anna Ruiz   +11 more
doaj   +1 more source

Inpatient Exposure, Confidence, and Knowledge in Pediatric Hematology/Oncology: Evaluating General Pediatric Residents During 2025 ACGME Curriculum Change

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background General pediatricians often evaluate hematologic and oncologic presentations before subspecialty consultation, yet the 2025 Accreditation Council for Graduate Medical Education (ACGME) pediatric requirements reduce inpatient pediatric hematology/oncology (PHO) time, raising questions about resident readiness.
Colburn Yu, Rohini Jain
wiley   +1 more source

Sociodemographic Factors Associated With Later Stage at Diagnosis of Pediatric Germ Cell Tumors: A Report From Children's Oncology Group Registries ACCRN07 and APEC14B1

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Germ cell tumors (GCTs) often arise in the ovaries and testes (extracranial) but can also develop in the brain (intracranial). We examined the relationship of individual, family, and community‐level socioeconomic status (SES) with stage of disease at diagnosis in a cohort of pediatric patients with GCT from Children's Oncology Group
Heydon K. Kaddas, Judy Y. Ou, Todd Alonzo, Logan G. Spector, Negar Fallahazad, Emily Owens, Anne C. Kirchhoff, Adam L. Green   +7 more
wiley   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome

Biomedical Papers
Aims/Background. Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease caused by pathogenic variants in the UBR1 gene. JBS is usually suspected based on characteristic anomalies, but only genetic testing provides a definitive diagnosis ...
Lukas Strych, Tomas Zavoral, Pavla Komrskova, Tomas Vanecek, Ivan Subrt   +4 more
doaj   +1 more source

Phase Angle as an Early Functional Biomarker of Cancer‐Related Fatigue in Pediatric Oncology: A Prospective Longitudinal Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric cancer remains a leading cause of morbidity and mortality worldwide, particularly in low‐and middle‐income countries. Cancer treatment may impair nutritional status, alter body composition, and exacerbate cancer‐related fatigue (CRF).
Luís Carlos Lopes‐Junior, Luiz Claudio Barreto Silva Neto, Fabiano Kenji Haraguchi, Letícia Batista de Azevedo, Marcelo Brenner Nascimento Carlini, Raphael Manhães Pessanha, Mariana Rabello Laignier, Wesley Rocha Grippa, Tania Mara Lopes Bitti Bortolini, Gláucia Zouain‐Figueiredo, Regina Aparecida Garcia de Lima, Liliana Vasquez   +11 more
wiley   +1 more source

A novel dinucleotide variant at 5′ splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A

Frontiers in Genetics
BackgroundHemophilia A is a rare, severe X-linked recessive inherited hemorrhagic disorder caused by F8 gene dysfunction, which is characterized by spontaneous or post-traumatic bleeding tendencies.
Xunzhao Zhou, Xunzhao Zhou, Qi Yang, Qi Yang, Qiuli Chen, Qiuli Chen, Sheng Yi, Sheng Yi, Shengkai Wei, Shengkai Wei, Jingsi Luo, Jingsi Luo, Jingsi Luo, Dahua Meng, Zailong Qin, Zailong Qin, Shujie Zhang, Shujie Zhang   +17 more
doaj   +1 more source

Natural Killer Cells in Paediatric Soft Tissue Sarcomas: A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Paediatric soft tissue sarcomas (pSTS) are a rare and heterogeneous group of malignant tumours arising in tissues of mesenchymal origin. The role of natural killer (NK) cells in pSTS remains poorly understood, with evidence fragmented across small preclinical studies and early‐phase clinical trials.
Raya Dean, Lara V. Graham, Christina Putnam, Rosa Gomes Alves Martins, Daniel T. Harding, Tim J. Underwood, Zoë S. Walters, Matthew D. Blunt   +7 more
wiley   +1 more source

Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report

Frontiers in Genetics
IntroductionGastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare autosomal dominant familial gastric cancer syndrome. GAPPS is caused by pathogenic variant in the regulatory region of APC.
Jong Sun Park, Sun Gyo Lim, Jongmun Choi, Jongmun Choi, Sae-Mi Lee, Sae-Mi Lee, Chang Ahn Seol, Chang Ahn Seol, Seon-Yong Jeong, Eunkuk Park, Young Bae Sohn   +10 more
doaj   +1 more source

Mapping Childhood Cancer Care Services in Oceania: Methodological Lessons From the SIOP Global Mapping Programme

Pediatric Blood &Cancer, EarlyView.
ABSTRACT The International Paediatric Oncology Society Global Mapping Programme aims to collect data on global paediatric oncology services by continent, with Africa and Latin America completed. This study reports on the methodology and lessons learned for Oceania, a unique continent with resource disparity across countries, multiple small island ...
Trisha Soosay Raj, Christy Noble, Amy Gray, Daniel C. Moreira, Jennifer Lowe, Maite Gorostegui, Gwenda Anga, Andrew Soma, Milena Lay Dos Santos, Siobhan Cross, Erin Luttrell, Michael Sullivan, Julie Cayrol, Julia Challinor, Neil Ranasinghe, Jordana McLoone, Claire E. Wakefield   +16 more
wiley   +1 more source