Results 151 to 160 of about 2,203,451 (295)

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Trisomy 21 (T21) is associated with various neurological impairments. However, the mechanisms of fetal brain development in T21 and their impact on neurodevelopmental outcomes remain unclear, limiting prenatal counseling. Therefore, this study aims to assess neuropathological changes in fetuses with T21 and the associated ...
Christina Haberl, Pilar Palmrich, Eva Karner, Patric Kienast, Sarah Glatter, Florian Heinzl, Philipp Moser, Daniela Prayer, Gregor Kasprian, Julia Binder   +9 more
wiley   +1 more source

Emphysema in an 11‐month‐old boy with alpha‐1 antitrypsin deficiency

Pediatric Investigation, EarlyView.
Pediatric development of emphysema in Alpha‐1 Antitrypsin Deficiency (A1ATD) has been rarely described. In this case report, we document an 11‐month boy with A1ATD phenotype PiZZ with basilar centrilobular emphysema, the earliest such documented case.
Irvin Yi, Rachel Williams, Leela Chandrasekar, Saif Al‐Qatarneh   +3 more
wiley   +1 more source

Pregnancy in CTD‐interstitial lung disease: Current evidence, clinical challenges, and a proposed management algorithm

Rheumatology &Autoimmunity, EarlyView.
Summary of pregnancy management in CTD‐ILD across preconception, antenatal, and postpartum phases, emphasizing risk stratification and multidisciplinary care. 6MWT, 6‐min walk test; CTD‐ILD: connective tissue disease‐interstitial lung disease; DLCO, diffusion capacity of the lung for carbon monoxide; FVC, forced vital capacity; MDT, multidisciplinary ...
Khaled Aldhuaina, Ghaydaa Aldabie, Mohammad Abdulsalam, Ali Jawad   +3 more
wiley   +1 more source

Anomalous right coronary artery arising from the pulmonary artery (ARCAPA): an incidental diagnosis in a 3-year-old girl

Pediatrics and Neonatology
Anna Wałdoch, Radosław Jaworski
doaj   +1 more source

Long‐term outcome after fetal endoscopic tracheal occlusion for congenital diaphragmatic hernia: systematic review

Ultrasound in Obstetrics &Gynecology, EarlyView.
Abstract Objective This systematic review aimed to evaluate the long‐term outcomes of infants who had undergone fetal endoscopic tracheal occlusion (FETO) for congenital diaphragmatic hernia (CDH). Methods PubMed, MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials (CENTRAL) were searched from inception to October 2025 for studies ...
S. Shah, R. Ruiz Roman, K. H. Nicolaides
wiley   +1 more source

Nonthermal plasma approaches for combating implant‐associated infections: A compendious review

VIEW, EarlyView.
Implant‐associated infections pose serious clinical challenges. Non‐thermal plasma (NTP) modifications overcome this bottleneck in distinct ways relative to traditional sterilization methods. Gas‐phase plasmas generate highly energetic species, UV radiation and reactive oxygen/nitrogen species (RONS), which alter the implant surface properties.
A. M. Trimukhe, Satish Rojekar, Amol Gholap, K. Navaneetha Pandiyaraj, Mukesh Patekar, Claudia Riccardi, R. R. Deshmukh, Tomáš Kovářík, Kalim Deshmukh   +8 more
wiley   +1 more source

Holt-Oram Syndrome With Complex Cardiac and Limb Anomalies in an Ethiopian Patient: A Case Report. [PDF]

Case Rep Cardiol
Getachew Y, Birhanu A, Mulugeta S, Arega B, Belay B, Mersha A, Damtie B, Yirga A, Fufa E, Kemal I, Fanuel B.   +10 more
europepmc   +1 more source