Results 231 to 240 of about 90,874 (298)

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Laparoscopic Cholecystectomy for Ruptured Gallbladder Varices Diagnosed by Preoperative Endoscopic Ultrasonography: A Case Report. [PDF]

Surg Case Rep
Hirano T, Nishihara M, Honda M, Asano S, Ozawa N, Himeiwa S, Iida H, Terada S, Kawamitsu H.   +8 more
europepmc   +1 more source

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

A Technical Note on Portal Vein Reconstruction With Interposition Cadaveric Internal Iliac Vein Graft in an Infant With Biliary Atresia and Portal Vein Hypoplasia. [PDF]

Cureus
Solangaarachchi KS, Siriwardana R, Tillakaratne SB, Fernando M, Weerasuriya AP.   +4 more
europepmc   +1 more source

Painful Bilateral Necrosis of the Scalp

JEADV Clinical Practice, EarlyView.
Zoé Dumesnil, Manuel Croix, Anael Dumont, Kottler Diane, Mohamed‐Taha Tagmouti, Anne Dompmartin, Jean‐Matthieu L'Orphelin   +6 more
wiley   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source

Attributes of atherosclerotic plaques in carotid artery disease: a Doppler ultrasound assessment. [PDF]

J Vasc Bras
Trevisan DCT, Bosnardo CAF.
europepmc   +1 more source

Ultrasonographic Features of Spiradenomas and Cylindromas as Diagnostic Clues in the Pre‐Therapeutic Setting

JEADV Clinical Practice, EarlyView.
Diana Crisan, Tina Weiss, Karin Scharffetter‐Kochanek, Yusef Sallum, Ioana‐Ancuta Ungureanu, Maria Crisan   +5 more
wiley   +1 more source