Results 31 to 40 of about 2,167,838 (317)

Unilateral absence of the left pulmonary artery with patent ductus arteriosus and interrupted inferior vena cava

Türk Kardiyoloji Derneği Arşivi, 2014
Unilateral absence of the pulmonary artery and interrupted inferior vena cava are rare congenital disorders. The clinical presentation is variable, and many patients can be asymptomatic for many years and even throughout their lives.
Burçak Kılıçkıran Avcı, Bilgehan Karadağ, Hasan Tüzün, Zeki Öngen   +3 more
doaj   +1 more source

Role of MDCT in evaluation of congenital and acquired anomalies of pulmonary venous drainage

The Egyptian Journal of Radiology and Nuclear Medicine, 2018
Objective: This work aimed for detection of different congenital and acquired abnormalities affecting the pulmonary veins using multislice computed tomography (MSCT). Patients and methods: This study was carried on 74 patients.
Youssriah Yahia Sabri, Marwa Moawed, Takeya Ahmed Taymour, Sally Foad Tadros   +3 more
doaj   +1 more source

Computed tomography imaging characteristics of shone syndrome

Radiology Case Reports, 2019
Shone syndrome was first described in 1963 by Dr JD Shone. It is a constellation of congenital abnormalities compromising approximately 0.6% of all cases of congenital cardiac abnormalities.
Alan True, MD, Melvin Baidya, Christopher Lui, MD, German Kilimnik, MD, Michael Sadler, MD   +4 more
doaj   +1 more source

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

The Success Rate for Diagnosing Congenital Anomalies During Prenatal

Obgynia
Introduction: This study aimed to determine the success of prenatal diagnosis in cases of congenital abnormalities at RSHS Bandung. Methods: This study was descriptive and cross-sectional.
Silva Elifa Firmansyah, Adhi Pribadi, Akhmad Yogi Pramatirta, Anita Rachmawati, Andi Rinaldi   +4 more
doaj   +1 more source

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome

British Journal of Dermatology, 2015
The spectrum of central nervous system (CNS) abnormalities described in association with congenital melanocytic naevi (CMN) includes congenital, acquired, melanotic and nonmelanotic pathology.
R. Waelchli, S. E. Aylett, David J. Atherton, D. J. Thompson, W. Chong, V. Kinsler   +5 more
semanticscholar   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

DNA methylation abnormalities in congenital heart disease

Epigenetics, 2015
Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown.
C. Serra‐Juhé, I. Cuscó, Aïda Homs, R. Flores, N. Torán, L. Pérez-Jurado   +5 more
semanticscholar   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source