Results 51 to 60 of about 9,898 (185)

FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region

Genetics and Molecular Biology, 2000
Conventional cytogenetic studies on a female infant with sporadic aniridia revealed what appeared to be a balanced de novo t(11;13) (p13;q33) translocation.
J.C. Llerena Jr., J.C. Cabral de Almeida, E. Bastos, J.A. Crolla   +3 more
doaj   +1 more source

miR‐135a‐5p Is a Promising Target to Prevent the Glomerulosclerosis Associated with Podocyte Developmental Toxicity in Offspring Induced by Prenatal Dexamethasone Exposure

Advanced Science, EarlyView.
Prenatal dexamethasone exposure (PDE) programs persistent podocyte developmental injury and adult glomerulosclerosis. Mechanistically, glucocorticoid receptor (GR) binds the miR‐135a‐5p promoter and recruits the histone acetyltransferase p300, increasing promoter histone acetylation and sustaining miR‐135a‐5p expression. Elevated miR‐135a‐5p suppresses
Xiaoqi Zhao, Haiyun Chen, Yanan Zhu, Zhiping Xia, Hangyuan He, Yutang Liu, Tianshu Yang, Hui Wang, Ying Ao   +8 more
wiley   +1 more source

Prognóstico de pacientes com tumor de Wilms unilateral no Rio de Janeiro, 1990-2000 Prognosis for patients with unilateral Wilms' tumor in Rio de Janeiro, Brazil, 1990-2000

Revista de Saúde Pública, 2005
OBJETIVO: Analisar a sobrevida e os principais fatores prognósticos entre os pacientes com tumor de Wilms unilateral. MÉTODOS: A coorte de estudo incluiu 132 casos de tumor de Wilms unilateral em menores de 15 anos de idade matriculados em serviço de ...
Marilia Fornaciari Grabois, Gulnar Azevedo e Silva Mendonça   +1 more
doaj   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

Whole exome sequencing identified a rare WT1 loss‐of‐function variant in a non‐syndromic POI patient

Molecular Genetics & Genomic Medicine, 2022
Background Premature ovarian insufficiency (POI) is a highly heterogeneous disease, and up to 25% of cases can be explained by genetic causes. The transcription factor WT1 has long been reported to play a crucial role in ovary function.
Yingchen Wang, Qing Chen, Feng Zhang, Xi Yang, Lingyue Shang, Shuting Ren, Yuncheng Pan, Zixue Zhou, Guoqing Li, Yunzheng Fang, Li Jin, Yanhua Wu, Xiaojin Zhang   +12 more
doaj   +1 more source

Effect of developmental changes on pharmacokinetics of drugs used in the treatment of infant acute lymphoblastic leukaemia—A comprehensive review

British Journal of Clinical Pharmacology, EarlyView.
While the event‐free survival (EFS) of children treated for acute lymphoblastic leukaemia (ALL) has improved greatly in the last decades, the EFS for patients diagnosed with ALL before the age of one is still under 50%. This outcome further decreases when infants have a rearrangement in the gene encoding histone‐lysine N‐methyltransferase 2A (KMT2A ...
Tirsa de Kluis, Leiah J. Brigitha, Lidwien M. Hanff, Alwin D. R. Huitema, Inge M. van der Sluis, Meta H. M. Diekstra   +5 more
wiley   +1 more source

Efficacy, safety and cost‐effectiveness of CAR‐T therapy

British Journal of Clinical Pharmacology, EarlyView.
CAR T‐cells demonstrate high efficacy in blood cancers, including ALL, MM and DLBCL. Innovations target solid tumours despite challenges such as antigen escape. Combination therapies enhance the delivery and infiltration of CAR T cells. Toxicity, cost and resistance remain major barriers to clinical use.
Emina Karahmet Sher, Amina Džidić‐Krivić, Emma Pinjic, Nejra Selak, Kanita Omerbasic, Alexandar Chupin, Andrej Belancic, Almir Fajkic   +7 more
wiley   +1 more source

Proteína p53 em nefroblastomas

Acta Cirúrgica Brasileira, 2000
A imunoexpressão do antígeno p53 foi estudada em 35 pacientes com idade média de 38± 29 meses. Todos foram tratados com nefrectomia e quimioterapia, em 17 se associou também a radioterapia. O tempo médio de seguimento foi de 69± 66 meses.
Ricardo Iwakura, Antonio Carlos Pereira Martins, Silvio Tucci Jr, Monica T. Pastorello, Haylton Jorge Suaid, Adauto José Cologna, João José Carneiro, Antônio D. Campos   +7 more
doaj   +1 more source

Phagocytic Mesothelial Cells in Pericardial Effusion Following Allogeneic Peripheral Blood Stem Cell Transplantation for Chronic Active Epstein–Barr Virus Infection: A Distinctive Cytomorphological and Immunocytochemical Case Study

Diagnostic Cytopathology, EarlyView.
ABSTRACT Phagocytic activity of mesothelial cells is a rare phenomenon requiring careful differentiation from histiocytic hemophagocytosis to ensure appropriate patient management, as these phenomena could exhibit distinct clinical implications. In this study, we report a case of phagocytic mesothelial cells found in pericardial effusion that developed
Hidetoshi Satomi, Ayumi Ryu, Sei Murayama, Hiroya Kojima, Satoshi Tanada, Keiichiro Honma   +5 more
wiley   +1 more source

Tumores renais e adrenais com invasão cardíaca: resultados cirúrgicos imediatos em 14 pacientes Tumores renales y adrenales con invasión cardiaca: resultados quirúrgicos inmediatos en 14 pacientes Renal and adrenal tumors with cardiac invasion: immediate surgical results in 14 patients

Arquivos Brasileiros de Cardiologia, 2009
FUNDAMENTO: A ressecção do trombo tumoral em veia cava inferior (VCI) e átrio direito (AD) aumenta a sobrevida do paciente com câncer renal/supra-renal. OBJETIVO: Avaliar a conduta cirúrgica do trombo da VCI e AD no tratamento dos tumores renais e supra ...
Rafael Fagionato Locali, Priscila Katsumi Matsuoka, Tiago Cherbo, Edmo Atique Gabriel, Enio Buffolo   +4 more
doaj   +1 more source