Results 51 to 60 of about 21,617 (225)

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

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

Figulla PFO occluder versus Amplatzer PFO occluder for percutaneous closure of patent foramen ovale [PDF]

, 2010
Percutaneous closure of patent foramen ovale (PFO) has been shown safe and feasible using several devices. The Occlutech Figulla single layer PFO Occluder (FPO) constitutes an alternative to the Amplatzer PFO Occluder (APFO)
Windecker, Stephan, Praz, Fabien, Ardan M. Saguner, Stefano F. de Marchi, Heinrich P. Mattle, Bernhard Meier, Fabien Praz, de Marchi, Stefano F., Stephan Windecker, Andreas Wahl, Cook, Stéphane, Stéphane Cook, Mattle, Heinrich P, Wahl, Andreas, Meier, Bernhard, Saguner, Ardan M   +15 more
core   +1 more source

Adult brain abscess associated with patent foramen ovale: a case report

Journal of Medical Case Reports, 2007
Brain abscess results from local or metastatic septic spread to the brain. The primary infectious site is often undetected, more commonly so when it is distant.
Stathopoulos Georgios T, Mandila Christina G, Koukoulitsios Georgios V, Katsarelis Nikodimos G, Pedonomos Michel, Karabinis Andreas   +5 more
doaj   +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

Advances in the Study of the Correlation Between Patent Foramen Ovale and Migraine [PDF]

This article examines the relationship between patent foramen ovale (PFO) and migraine, emphasizing the mechanisms underlying the connection and the historical status of transcatheter PFO closure as a treatment for migraine.
Fulin Liu, Tongtong Liu, Jiawei Wang, Zhexuan Gong, Yue Zuo   +4 more
core   +1 more source

Patent foramen ovale: indications for closure and techniques [PDF]

, 2016
Non-surgical closure of the patent foramen ovale (PFO) has been possible for 40 years and proved safe in probably a million cases performed worldwide.
Maisano, Francesco, Nietlispach, Fabian, Meier, Bernhard, Taramasso, Maurizio   +3 more
core   +1 more source

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

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

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source