Results 121 to 130 of about 79,128 (273)

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

The Sooner, the Better: Neuroprotective Strategies in Fetuses With Congenital Heart Disease

Prenatal Diagnosis, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most frequent congenital malformation at birth and is associated with neurodevelopmental impairments. Alterations in cardiovascular physiology can lead to reduced cerebral blood perfusion and oxygenation, which negatively affects brain growth and maturation.
Maaike Nijman, Mirthe E. M. van der Meijden, Johannes M. P. J. Breur, Raymond Stegeman, Nicolaas J. G. Jansen, Mireille N. Bekker, Manon J. N. L. Benders, Nathalie H. P. Claessens   +7 more
wiley   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Cardiac disease in systemic sclerosis: Integrating pathobiology with clinical management

Rheumatology &Autoimmunity, EarlyView.
Abstract Systemic sclerosis (SSc) is a complex autoimmune disorder in which cardiovascular involvement remains a major determinant of morbidity and mortality. Cardiac injury in SSc results from the interplay of microvascular dysfunction, immune‐mediated inflammation, and progressive interstitial and replacement fibrosis, leading to myocardial disease ...
Henry Sutanto, Betty Rachma, Yuliasih
wiley   +1 more source

Are physiological oscillations physiological?

The Journal of Physiology, EarlyView., 2023
Abstract figure legend Mechanisms and functions of physiological oscillations. Abstract Despite widespread and striking examples of physiological oscillations, their functional role is often unclear. Even glycolysis, the paradigm example of oscillatory biochemistry, has seen questions about its oscillatory function.
Lingyun (Ivy) Xiong, Alan Garfinkel
wiley   +1 more source

Prenatal detection and outcome of major heart defects in a country with universal screening

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source

Deep learning assessment of fetal brain maturation on 3D ultrasound volumes in early‐onset fetal growth restriction

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objectives To quantify fetal brain maturation in fetuses with early‐onset fetal growth restriction (FGR) by estimating gestational age (GA) based on the appearance of gyrification and individual brain structures from three‐dimensional (3D) ultrasound volumes using a deep‐learning model trained on optimally developing subjects.
L. Meijerink, M. Wyburd, A. I. L. Namburete, T. Alderliesten, F. Groenendaal, M. Benders, F. Terstappen, M. N. Bekker   +7 more
wiley   +1 more source

Impact of prenatal sirolimus on cardiac rhabdomyomas and brain tubers

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To document the natural progression of fetal cardiac rhabdomyomas and evaluate the impact of prenatal sirolimus (PNS) on tumor size, cardiac complications and brain‐tuber size. Methods This was a single‐center retrospective cohort study of pregnancies with suspected fetal cardiac rhabdomyoma referred to our center from April 2013 to ...
S. Vergote, L. Van Der Veeken, D. Chitayat, E. Jaeggi, G. Ryan, E. Miller, S. Shinar   +6 more
wiley   +1 more source

A Congenital Left Ventricular Aneurysm: A Cause of Premature Ventricular Complex in a Premature Infant

Pediatrics and Neonatology, 2017
Wei-Li Hung, Shyh-Jye Chen, Shan-Miao Lin, Ming-Ren Chen   +3 more
doaj   +1 more source

Anti‐desmoglein‐2 autoantibodies do not discriminate between UK boxer dogs with and without arrhythmogenic right ventricular cardiomyopathy

Veterinary Record, EarlyView.
Abstract Background Evidence regarding the diagnostic utility of serum anti‐desmoglein‐2 (DSG2) autoantibodies for arrhythmogenic right ventricular cardiomyopathy (ARVC) in boxer dogs is conflicting. Methods Prospective standardised evaluation of apparently healthy boxer dogs for ARVC was performed at three referral centres, including blood pressure ...
Chia‐Hsuan Chang, Claire Watson, Diptendu Chatterjee, Jade Ward, Kieran Borgeat, Hannah Hodgkiss‐Geere, Joanna Dukes‐McEwan, Robert Hamilton, Melanie J. Hezzell   +8 more
wiley   +1 more source