Results 41 to 50 of about 17,457 (194)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

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

American Journal of Medical Genetics Part A, EarlyView.
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

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Paradoxical Embolism due to Persistent Foramen Ovale; a Case Report

Archives of Academic Emergency Medicine, 2016
The mean percentage of cryptogenic strokes among ischemic strokes is 31%, of which one-third may be associated with patent foramen ovale. The foramen ovale is required for blood flow through the fetal atrial septum.  It is formed as of the fourth week ...
Dormar David Barrios, Jonathan Roncancio, Albert Alejandro Avila, Jaime Andrés Alvarado, Ana Cristina Montenegro   +4 more
doaj   +3 more sources

Percutaneous Closure of Patent Foramen Ovale in a Patient with Mirror-Image Dextrocardia and Situs Inversus

Cardiovascular Innovations and Applications, 2020
A 26-year-old patient with mirror-image dextrocardia and situs inversus experienced a transient ischemic attack. We suspected that a patent foramen ovale was the reason.
Xiaofei Jiang, Heng Zhang, Mingyang Qian
doaj   +1 more source

Patent Foramen Ovale and Cryptogenic Stroke [PDF]

New England Journal of Medicine, 2013
To the Editor: The articles by Meier et al.1 and Carroll et al.2 and the corresponding editorial by Messe and Kent3 (March 21 issue) illustrate a major problem in clinical trials. When it is not obvious which of two therapies is better, sufficient numbers of events are essential to reach a conclusion.
Christian, Pristipino, Francesco, Bedogni, Alberto, Cremonesi   +2 more
openaire   +9 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Active paradoxical and pulmonary emboli in a first trimester pregnancy

Annals of Cardiac Anaesthesia, 2022
Capturing a paradoxical embolism in real-time has been a challenge in recent literature. We present the unique case of a 33-year-old, G3P2 female at 8 weeks gestation presenting with dyspnea. An active thrombus through an undiagnosed patent foramen ovale
Nicholas Suraci, Monica Shifman, Annadita Kumar, Michael Haske   +3 more
doaj   +1 more source

The petrotympanic canal (Huguier canal): Evolutionary, anatomical, and medical perspectives

The Anatomical Record, EarlyView.
Abstract The petrotympanic canal, traditionally referred to as Civinini's or Huguier's canal, represents an anatomical passage connecting the middle ear and temporomandibular joint (TMJ). Despite its early description, its structural complexity and functional significance have often been underestimated. In this study, we combined historical, anatomical,
Andrea Papini, Nicola Montemurro, Ferdinando Paternostro, Immacolata Belviso, Massimo Galli, Petra Martini, Licia Uccelli, Jacopo Moggi‐Cecchi, Gregorio Oxilia   +8 more
wiley   +1 more source