Results 141 to 150 of about 48,358 (257)

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

open access: yesJournal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims   +3 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

open access: yesThe Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal   +3 more
wiley   +1 more source

Mild intrahepatic cholestasis of pregnancy-A call to redefine diagnostic criteria and consider a new management paradigm. [PDF]

open access: yesPregnancy (Hoboken)
Sarker M   +9 more
europepmc   +1 more source

The Association of Pregnancy and Scurvy in Indigenous Women and Their Children From the Late Holocene in California (USA)

open access: yesInternational Journal of Osteoarchaeology, EarlyView.
ABSTRACT Limited evidence of nutritional deficiencies has been identified in bioarchaeological studies of Native California populations, although isotopic and ethnohistoric research provides evidence of regional, seasonal, and cultural variability in food shortages.
Alyson Caine   +3 more
wiley   +1 more source

The role of trust in wildlife damage response systems: One step towards coexistence between livestock farming and large carnivores?

open access: yesPeople and Nature, EarlyView.
Abstract Wildlife damage to livestock and crops is the primary cause of conflict and a major barrier to human–wildlife coexistence across Europe and beyond. Data on such damages play a key role in understanding and shaping these conflicts. Policy responses have emphasised prevention and compensation to support extensive husbandry practices; however ...
Katrina Marsden   +9 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal 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   +6 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

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