Results 171 to 180 of about 345,553 (334)

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort

Journal of Clinical Laboratory Analysis, EarlyView.
Refining TREC cutoff values in newborn screening (NBS) for SCID: ROC analysis of a large testing cohort supports increasing the TREC threshold from 100 to 150–200 copies/105 cells, improving assay sensitivity and enabling earlier detection of SCID and other immunodeficiencies.
Andrey Marakhonov, Ekaterina Kalinina, Sergey Larin, Maryam Khadzhieva, Ekaterina Dudina, Anna Mukhina, Yulia Rodina, Irina Efimova, Natalya Balinova, Irina Sermyagina, Olga Shchagina, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, Sergey Kutsev   +14 more
wiley   +1 more source

Characteristics of Adults With Congenital Heart Defects in the United States.

Journal of the American College of Cardiology, 2020
M. Gurvitz, J. Dunn, A. Bhatt, W. Book, Jill Glidewell, C. Hogue, A. Lin, G. Lui, Claire E McGarry, C. Raskind-Hood, Alissa R Van Zutphen, A. Zaidi, K. Jenkins, Tiffany J. Riehle‐Colarusso   +13 more
semanticscholar   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Prominent Chiari Network as a Cause of Cyanosis in Infants: A Case Report and Implications for Pediatric Cardiology Practice

Journal of Clinical Ultrasound, EarlyView.
A prominent Chiari network can cause cyanosis in infants by inducing a positional right‐to‐left atrial shunt. Accurate diagnosis enabled conservative management, delaying surgery until optimal conditions. This case emphasizes the importance of echocardiographic evaluation in differentiating cyanosis mechanisms to guide appropriate treatment in ...
Carmen Rodríguez‐Barrios, Irene Gutierrez‐Rosa, Moises Rodriguez‐Gonzalez   +2 more
wiley   +1 more source

Congenital heart defects in Iceland 1990-1999 [PDF]

, 2008
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenObjective: About 1% of live born children have congenital heart defects (CHD).
Bjarni Torfason, Gunnlaugur Sigfússon, Herbert Eiríksson, Hróðmar Helgason, Jón Þór Sverrisson, Sigurður Sverrir Stephensen, Ásgeir Haraldsson   +6 more
core  

Diagnostic Performance of Standardized First Trimester Fetal Echocardiography for the Detection of Congenital Heart Defects

Journal of Clinical Ultrasound, EarlyView.
First trimester fetal echocardiography has high detection rates for early diagnosis of severe congenital heart defects. Standardized first trimester fetal echocardiography may allow early diagnosis of fetuses with congenital heart defects and contribute to the appropriate management of these pregnancies.
Münip Akalın, Emine Eda Akalın, Merve Kara, Esra Esim Büyükbayrak   +3 more
wiley   +1 more source

Grown up congenital heart disease patient presenting for non cardiac surgery: anaesthetic implications [PDF]

, 2010
Congenital heart disease patients surviving to adulthood have increased over the years due to various reasons. These patients are admitted in the hospital for non cardiac surgeries and other procedures more often than normal adult population.
Akhtar, Mohammad Irfan, Hameedullah,, Hamid, Mohammad, Khan, Fazal Hameed, Khan, Mansoor Ahmed, Saleemullah,, Samad, Khalid   +6 more
core   +1 more source

Congenital Heart Defects [PDF]

Insights in Biomedicine, 2019
openaire   +1 more source

Magnetic Resonance Imaging in the Clinical Evaluation of Lung Disorders: Current Status and Future Prospects

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT The low proton density and high signal decay rate of pulmonary tissue have previously hampered the application of magnetic resonance imaging (MRI) in the clinical evaluation of lung disorders. With the continuing technical advances in scanners, coils, pulse sequences, and image postprocessing, pulmonary MRI can provide structural and ...
Linyu Wu, Chen Gao, Ting Wu, Ning Kong, Ziwei Zhang, Jie Li, Li Fan, Maosheng Xu   +7 more
wiley   +1 more source