Results 121 to 130 of about 79,064 (227)

Ovarian Cancer: Epidemiology, Disease Mechanisms, New Diagnosis and Treatment Strategies, and Research Directions

iNew Medicine, EarlyView.
ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid, Weirong Fan, Farah Nazir, Yixiang Xing, Tengchuan Jin   +4 more
wiley   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Transcriptome Sequencing Reveals Hidden Diagnostic Clues in the Alport Spectrum. [PDF]

Kidney Int Rep
Horinouchi T, Wiesener M.
europepmc   +1 more source

Liquid biopsy across cancers: Integrating circulating biomarkers, tumor biology, artificial intelligence, and clinical translation

Interdisciplinary Medicine, EarlyView.
Liquid biopsy uses non‐invasive sampling of blood or body fluids to isolate circulating analytes, including circulating tumor DNA, circulating tumor cells, extracellular vesicles, and RNA. These are analyzed using next‐generation sequencing, qPCR, and proteomics to inform cancer detection, monitoring, and characterization. Figure created with BioRender.
Jaswinder Singh, Manjeet Kumar, Kajal Kamra   +2 more
wiley   +1 more source

Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children. [PDF]

Children (Basel)
Caelles-Gramunt N, Pijuan J.
europepmc   +1 more source

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations

Journal of Clinical Laboratory Analysis, EarlyView.
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Jieqiong Xie, Yanru Huang, Xingmei Yao, Lutan Zhang, Yixi Zhou, Wenbo Wang, Jian Zhang, Yunsheng Ge   +7 more
wiley   +1 more source

A Novel Homozygous Frameshift Variant in ZNF699 Associated With DEGCAGS Syndrome With Severe Transfusion-Dependent Anemia in an Indian Child: A Case Report. [PDF]

Clin Case Rep
Reddy ACL, Priya AV, Pachwa A, Reddy BA, Samineni LN, Reddy LG.   +5 more
europepmc   +1 more source

Ultrasound findings associated with neonatal acute liver failure secondary to gestational alloimmune liver disease: A case series

JPGN Reports, EarlyView.
Abstract Objectives Gestational alloimmune liver disease is the leading cause of neonatal acute liver failure, hypothesized to emerge from maternal exposure to an antigen that is expressed on fetal hepatocytes, resulting in maternal‐fetal alloimmune attack and activation of the complement cascade.
Naseem Ravanbakhsh, Ashley M. Upton, Chun‐Sing Huang, Nhu Thao N. Galván, John Goss, Sanjiv Harpavat, Jose A. Hernandez   +6 more
wiley   +1 more source

Allelic Variants of the <i>DPYD</i> Gene in Russian Patients with Cancer: The Results of Exome Sequencing. [PDF]

Genes (Basel)
Fedorinov D, Lyadov V, Lyadova M, Abdullaev S, Sychev I, Filatova A, Danilov L, Glotov O, Budagova I, Mirzaev K, Sychev D.   +10 more
europepmc   +1 more source

Novel variant and enteroendocrine hormone deficiency in a patient with proline and glutamate‐rich protein with a coiled coil domain 1 (PERCC1) associated enteropathy: New diagnostic and therapeutic insights

JPGN Reports, EarlyView.
Abstract Proline and glutamate‐rich protein with a coiled coil domain 1 (PERCC1)‐associated enteropathy is a rare monogenic congenital diarrhea due to defective enteroendocrine cells (EECs). We describe a 6‐year‐old female with intestinal failure since birth.
Teresa Di Chio, Daniela Gattini, Christina Belza, Iram Siddiqui, Bolette Hartmann, Meghan Zoe Benchimol, Shiqi Zhang, Neil E. Warner, Aleixo M. Muise, Yaron Avitzur   +9 more
wiley   +1 more source