Results 71 to 80 of about 16,514 (185)

Opciones quirúrgicas actuales y sus resultados en neonatos con síndrome de corazón izquierdo hipoplásico

Anales de Pediatría, 2019
Resumen: Desde que Norwood et al. efectuaron la primera paliación exitosa en 1983, ha habido cambios sustanciales en el diagnóstico, el manejo y el pronóstico del síndrome de corazón izquierdo hipoplásico. La supervivencia en el estadio i de la paliación
Victor Bautista-Hernandez, Alejandro Avila-Alvarez, Gerald R. Marx, Pedro J. del Nido   +3 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Percutaneous Deployment of the Sinus‐SuperFlex‐DS Stent for Hybrid Stage I Palliation in Neonates Weighing ≤ 2.5 kg: A Multicenter Study

Catheterization and Cardiovascular Interventions, Volume 108, Issue 2, Page 644-652, August 1, 2026.
ABSTRACT Background Hybrid stage I palliation (HS1P) has developed as an alternative to the Norwood stage I palliation for neonates with hypoplastic left heart and related left‐sided obstructive lesions. HS1P is currently used in various clinical settings, such as single ventricle palliation, bridge to decision, bridge to biventricular repair, or ...
Johanna Hummel, Jochen Grohmann, Katarzyna Gendera, Götz Müller, Harald Bertram, Matthias Sigler, Dietmar Schranz, Christian Jux, Markus Khalil   +8 more
wiley   +1 more source

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, Volume 13, Issue 8, Page 1804-1814, August 2026.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu, Xueqin Cheng, Bixia Zheng, Chunli Wang, Wei Zhou, Aihua Zhang   +5 more
wiley   +1 more source

Central Nervous System Infections in Pediatric Solid Organ Transplant Recipients

Pediatric Transplantation, Volume 30, Issue 8, August 2026.
CNS infections in SOT recipients are rare and presentation can be subtle. Therefore, a low threshold for evaluation is warranted to minimize the associated mortality. ABSTRACT Background Solid organ transplant (SOT) recipients face an increased risk of central nervous system (CNS) infections due to immunosuppression.
Amna AlSaihati, Kathleen E. Hosek, Cristina Otero, Brandon H. Tran, Carrie A. Mohila, David Moreno McNeill, Mini Michael, Krupa R. Mysore, Joseph A. Spinner, Claire E. Bocchini, Kristen G. Valencia Deray   +10 more
wiley   +1 more source

Rapid bilateral pulmonary artery banding: A developmentally based proposal for the management of neonates with hypoplastic left heartCentral Message

JTCVS Open, 2023
Gil Wernovsky, MD, Mahmut Ozturk, MD, J. Wesley Diddle, MD, Ricardo Muñoz, MD, Yves d'Udekem, MD, PhD, Can Yerebakan, MD, PhD   +5 more
doaj   +1 more source

Challenges to overcome obstacles for pediatric donor heart availability

JHLT Open
Although surgical techniques for congenital heart disease (CHD), including hypoplastic left heart syndrome, have progressively advanced, pediatric heart transplantation remains the most effective surgical option for complex CHD and cardiomyopathy with ...
Norihide Fukushima
doaj   +1 more source

Transcatheter Cardiac Interventions in Neonates with Congenital Heart Disease:  A Single Centre Experience

Pakistan Armed Forces Medical Journal
Objective: To analyze the outcome among neonates undergoing transcatheter balloon atrial septostomy for various kinds of congenital heart diseases. Study Design: Prospective longitudinal study.
Fazal ur Rehman, Muhammad Talal Arshad, Mujeeb ur Rehman, Shakeel Ahmed, Abdul Sattar Shaikh, Veena Kumari   +5 more
doaj   +1 more source

Fetal hypoplastic left heart syndrome: key factors shaping prognosis

Journal of Perinatal Medicine
The purpose of the study is to estimate factors affecting survival in prenatally diagnosed hypoplastic left heart syndrome (HLHS) and echocardiographic features predicting poor prognosis and early neonatal death.
Cambaztepe Büşra, Demirci Oya, Ayhan Işıl, Alpınar Abdullah, Yücel İlker K.   +4 more
doaj   +1 more source