Results 101 to 110 of about 17,532 (272)

Femoral Skeletal Growth in Early Infancy Assessed by Radiofrequency Echographic Multi‐Spectrometry

Journal of Clinical Ultrasound, EarlyView.
Radiofrequency echographic multi‐spectrometry (REMS) acquisition of raw ultrasound radiofrequency signals from neonatal bone. Signals undergo preprocessing and frequency‐domain analysis to extract spectral features reflecting bone properties. A software‐guided procedure then identifies and selects standardized regions of interest (ROIs).
Serafina Perrone, Virginia Beretta, Laura Cannavò, Domenico Corica, Tommaso Aversa, Giorgia Pepe, Letteria Morabito, Maria Elisabeth Street, Malgorzata Wasniewska, Tullio Ghi, Andrea Dall'Asta   +10 more
wiley   +1 more source

Updated ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease 2025

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives To revise the 2018 European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies (ERNICA) clinical guideline for the management of rectosigmoid Hirschsprung's disease (HSCR) based on new evidence and evolving clinical priorities, ensuring continued relevance, trustworthiness, and consistency ...
Daniel Rossi, Willemijn Irvine, Anna Löf Granström, Annika Mutanen, Roel Bakx, Kristin Bjørnland, Duccio Cavalieri, Piotr Czauderna, Anne Dariel, Mark Ellebæk, Francesco Fascetti Leon, Fabio Fusaro, Dirk‐Jan Gloudemans, Marietta Jank, Peter Kolja Kvist, Martin Lacher, Annette Lemli, Lucas Matthyssens, Louise Montalva, Pedro Palazon, Alessio Pini Prato, Lucie Pos, Roxana Rassouli‐Kirchmeier, Konrad Reinshagen, Nagoud Schukfeh, Rony Sfeir, Olivia Spivack, Pernilla Stenström, Lovisa Telborn, Eelke Toxopeus, Alejandra Vilanova, Miriam Wilms, Rene Wijnen, Cornelius E. J. Sloots, Mikko Pakarinen, Tomas Wester   +35 more
wiley   +1 more source

Pathway for serum-only screening strategy without non-invasive prenatal testing.

, 2019
Pathway for serum-only screening strategy without non-invasive prenatal testing.
Julie Sou (8081861), Wei Zhang (405), Tima Mohammadi (8081858), Aslam H. Anis (8081864)   +3 more
core   +1 more source

Early Acitretin Therapy in a Patient With Harlequin Ichthyosis

JEADV Clinical Practice, EarlyView.
ABSTRACT Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities.
Orasa Sukmark, Parith Wongkittichote, Sanchawan Wittayakornrerk   +2 more
wiley   +1 more source

Non-invasive prenatal testing is a breakthrough in prenatal screening

, 2016
Non-invasive prenatal testing is a breakthrough in prenatal screeningNon-invasive prenatal testing (NIPT) using cell-free fetal DNA from the peripheral blood of the pregnant woman has become a possibility within recent years, but is not yet implemented ...
Sørensen, Steen, Ambye, Louise, Jørgensen, Finn Stener, Hornstrup, Louise Stig   +3 more
core  

Alterations in MicroRNA and Cytokine Expressions in Placental and Amniotic Tissues of COVID‐19 Affected Pregnant Women

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Since 2019, coronavirus disease 2019 (COVID‐19) has been associated with increased risks of preterm birth and placental complications. We prospectively investigated alterations in microRNAs (miRNAs) and cytokines in placental and amniotic tissues from pregnant women with and without COVID‐19 to evaluate the infection's impact on pregnancy ...
Wei‐Chun Chen, Shu‐Yu Hu, Chao‐Min Cheng, Ching‐Ju Shen   +3 more
wiley   +1 more source

The association between non-invasive prenatal testing and first-trimester preeclampsia screening

Taiwanese Journal of Obstetrics & Gynecology
Objective: The non-invasive prenatal testing (NIPT) and preeclampsia screening test (PES) has been widely used to detect fetal chromosomal abnormalities and maternal preeclampsia during early pregnancy.
Ren-Jun Hsu, Chuang-Yen Huang, Pin-Chia Huang, Chao-Fan Liu, Fung-Wei Chang   +4 more
doaj   +1 more source

Investigational Management for a Positive NIPT Result - Case Report [PDF]

Modern Medicine
Non-invasive prenatal testing (NIPT), since its introduction in 2011, has revolutionized prenatal screening, becoming widely used globally and replacing traditional screening methods in developed countries.
Elena Evelina STOICA, Laurentiu Camil BOHILTEA, Delia-Maria Gradinaru-FOMETESCU, Monica Mihaela CIRSTOIU   +3 more
doaj   +1 more source

Hemophilia A: An Ideal Disease for Prenatal Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada, Anthony Atala, Graça Almeida‐Porada   +2 more
wiley   +1 more source

Non-invasive prenatal detection of delf508 CFTR mutation status [PDF]

, 2016
Cystic fibrosis is the most common fatal genetic disorder in the Northern European population; however early diagnosis and treatment can lead to increased quality and length of life for affected individuals and therefore its diagnosis is of great public ...
Shaw, Patricia
core