Results 231 to 240 of about 44,851 (309)

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu, Guoqiang Li, Yimin He, Yiyao Chen, Lu‐lu Li, Niu Li, Shuyuan Li, Jian Wang   +7 more
wiley   +1 more source

Unrecognized Atrial Septal Defect Presenting with Postoperative Occipital Infarction. [PDF]

Diagnostics (Basel)
Lin J, Carraro do Nascimento V, Hefford J, Vo T, Matta MG.   +4 more
europepmc   +1 more source

Impact of Priming Volume Reduction on Hematocrit Retention in Pediatric Cardiopulmonary Bypass: A Retrospective Analysis

Pediatric Anesthesia, Volume 36, Issue 6, Page 703-713, June 2026.
ABSTRACT Background Retrograde autologous priming and venous antegrade priming replace the cardiopulmonary bypass circuit crystalloid with patient blood to mitigate hemodilution. However, their effectiveness in pediatric patients, particularly when analyzed as continuous variables, remains unclear.
Tokimitsu Hibino, Yusuke Okui, Yoshie Toba, Satoko Kondo, Hiromi Ikegami, Kiyoshi Suzuki, Fumiko Ogura, Hiroshi Masui, Norihisa Kitamoto, Masaaki Koide, Tsutomu Yamazaki   +10 more
wiley   +1 more source

Extrahepatic Biliary Atresia With Situs Inversus and Ventricular Septal Defect: A Case Report. [PDF]

Clin Med Insights Case Rep
Khan M, Farhan K, Rahim M, Farooq A, Raza AA, Samadi A, Arif F.   +6 more
europepmc   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, Volume 46, Issue 7, Page 1122-1129, June 2026.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Inferior Left Atrial Diverticulum Communicating with the Right Atrium or Inferior Vena Cava: Prevalence and CT Features. [PDF]

J Cardiovasc Dev Dis
Kim HJ, Park SG, Chang SA, Song J, Yang JH, Kim SM, Choe YH.   +6 more
europepmc   +1 more source

Fetal Instability and Resuscitative Management During Fetal Intervention: A Retrospective, Descriptive Analysis of 245 Fetal Cardiac and Spina Bifida Procedures

Prenatal Diagnosis, Volume 46, Issue 7, Page 1104-1111, June 2026.
ABSTRACT Objective The heterogeneity of fetal surgery has led to variability in the nature and frequency of fetal instability. Understanding these differences is critical for optimizing management. Methods We reviewed all fetal atrial septal interventions (FASI) and fetoscopic myelomeningocele (fMMC) repairs with fetal instability performed at our ...
Claire A. Naus, Betul Yilmaz Furtun, Jessian L. Munoz, Rebecca M. Johnson, Carolyn A. Altman, Michael A. Belfort, Luc Joyeux, Alice King, David G. Mann, Shaine Morris, Athar M. Qureshi, Magdalena Sanz Cortes, William E. Whitehead, Caitlin D. Sutton   +13 more
wiley   +1 more source

Transcatheter ventricular septal defect closure in children: ten-year experience with multiple devices and long-term outcomes. [PDF]

Egypt Heart J
Vuran G, Yılmazer MM, Bilen M, Doğan C, Dur Yİ, Hira O, Özön A, Gülaştı ÖF, Karaçelik M, Meşe T.   +9 more
europepmc   +1 more source

Sympatho‐Excitation in Pulmonary Hypertension: The Potential Role of Pulmonary Arterial Baroreceptors: An Acute Physiologic Intervention Study

Respirology, Volume 31, Issue 6, Page 621-629, June 2026.
Pulmonary arterial baroreceptors reflexively stimulate sympathetic nerve activity (SNA) in response to elevated pulmonary artery pressure and distension. In pulmonary hypertension patients, changes in muscle SNA were proportional to changes in pulmonary haemodynamics following nebulised iloprost.
Michael J. Plunkett, Ana L. C. Sayegh, Robert A. Lewis, Tanya J. McWilliams, Sasiharan Sithamparanathan, Julian F. R. Paton, James P. Fisher   +6 more
wiley   +1 more source

Lung-Protective Effect of Alveolar Recruitment Maneuvers in Children with Right Vertical Infra-Axillary Thoracotomy for Repair of Congenital Heart Disease. [PDF]

Children (Basel)
Zhang L, Wang C, He C, Wang X, Lin L, Ma J, Wang S.   +6 more
europepmc   +1 more source