Results 51 to 60 of about 2,012 (189)

Performance of Prenatal Ultrasound Screening for the Relative Positioning of Mesenteric Vessels

open access: yesJournal of Ultrasound in Medicine, Volume 44, Issue 1, Page 35-45, January 2025.
Objectives Abnormal relative positioning of the superior mesenteric artery (SMA) and vein (SMV) can lead to intestinal malrotation that predisposes to midgut volvulus. The aim of this study was to assess the prenatal ultrasound ability to visualize the relative position of SMA and SMV in normal pregnancies. Methods Prospective cohort study performed in
Jean Michel Faure   +7 more
wiley   +1 more source

Vitamin K deficiency bleeding and optimal prophylaxis methods in biliary atresia: A surveillance study in Japan

open access: yesPediatrics International, Volume 67, Issue 1, January/December 2025.
Abstract Background Vitamin K (VK) prophylaxis refers to the administration of VK to newborns to prevent neonatal VK deficiency bleeding (VKDB), which is characterized by intracranial hemorrhage (ICH). This study investigated the relationship between VK prophylaxis methods and VKDB in biliary atresia (BA).
Ryuji Okubo   +16 more
wiley   +1 more source

Long‐Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia

open access: yesCase Reports in Genetics, Volume 2025, Issue 1, 2025.
Primary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD. One of the genes, HYDIN, presents a diagnostic challenge due to the existence of HYDIN2, a highly homologous pseudogene that significantly ...
Liora H. Feshbach   +8 more
wiley   +1 more source

Unusual, unexpected course of temporary pacing lead leading to diagnosis of a rare syndrome

open access: yesIHJ Cardiovascular Case Reports, 2019
We describe a case of an elderly female with complete heart block where temporary pacemaker insertion led to diagnosis of inferior vena cava interruption, leading further to diagnosis of polysplenia syndrome.
M.P. Girish   +4 more
doaj   +1 more source

Fetal Presentation of MYRF‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis

open access: yesPrenatal Diagnosis, Volume 44, Issue 13, Page 1647-1658, December 2024.
ABSTRACT Purpose MYRF‐related cardiac‐urogenital syndrome (MYRF‐CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF‐CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far.
Maud Favier   +34 more
wiley   +1 more source

Left atrial isomerism associated with aneurysmal enlargement of right atrial appendage: A case report with literature review

open access: yesIndian Journal of Radiology and Imaging, 2019
We present a prenatally diagnosed case of heterotaxy syndrome (HS) in which left atrial isomerism (LAI) was associated with an aneurysmal enlargement of the right atrial appendage (RAA).
Prateek Agarwal, Rajesh Kumar Agarwal
doaj   +1 more source

Polysplenia Syndrome With Persistent Left Superior Vena Cava: Case Report and Review of the Literature

open access: yesGlobal Pediatric Health, 2022
Polysplenia syndrome is an uncommon condition associating several splenic nodules (sometimes polylobed spleen and cases of normal spleen have been described) with a number of malformations that appear between the fourth and sixth week of embryonic ...
El Houss Salma MD   +5 more
doaj   +1 more source

Retrospective Cohort Study of Associated Factors for Intestinal Complications in Pediatric Liver Transplantation

open access: yesPediatric Transplantation, Volume 28, Issue 8, December 2024.
Intestinal complications (IC) are significant adverse events following liver transplantation (LT), yet research on pediatric cohorts remains limited. This study aims to describe IC in children after LT and identify factors associated with their occurrence.
Sindy Pires   +4 more
wiley   +1 more source

Intra-Abdominal Abnormalities Associated with Polysplenia Syndrome

open access: yesJournal of the Belgian Society of Radiology, 2019
What to look for in case of polysplenia and/or unusual disposition of several intra-abdominal organs.
Hadrien Renier
doaj   +1 more source

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