Results 121 to 130 of about 28,297 (220)
Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency
Clinical Genetics, Volume 108, Issue 4, Page 479-485, October 2025.We report three people from two unrelated families with a clinical diagnosis of thoracic dystrophy characterized by short or missing ribs, narrow chest, and respiratory insufficiency. Affected people each have rare, biallelic, predicted deleterious missense substitutions in FGF4, a gene known to be essential for the formation of the thoracic skeleton ...
Laura M. Watts +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
Patent foramen ovale and closure of patent foramen ovale in patients with cryptogenic stroke
Cardiologia Croatica, 2019 The patent foramen ovale (PFO) is a common anatomical variant in humans (prevalence 25%). Most common asymptomatic (incidental), it can be a cause of a paradoxical embolic stroke. A dedicated PFO occluder (Amplatzer PFO Occluder) was first used in 1997. Since, it has been used often as common and safe procedure.
openaire +1 more source
Catheterization and Cardiovascular Interventions, Volume 106, Issue 3, Page 2037-2047, September 1, 2025.ABSTRACT The patent foramen ovale (PFO), present in 25% of the population, can cause paradoxical embolism and stroke. Transcatheter PFO closure is the gold standard for recurrent embolism with significant inter‐atrial shunting, with recent trials confirming its superiority in reducing ischemic stroke recurrence over medical therapy.
Eirini Beneki +13 more
wiley +1 more source
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Down syndrome is a risk factor for Hirschsprung's disease. However, the amniotic band sequence does not directly correlate. We present a patient with Down syndrome and associated Hirschsprung's disease, who exhibited findings consistent with amniotic band sequence.
Rosario Hernández‐Ramírez +4 more
wiley +1 more source
Cardiac hemangioma of the right atrium in a neonate : fetal management and expedited surgical resection [PDF]
, 2005 Cardiac hemangioma is a rare tumor with a reported incidence of 1-2%. We describe the case of a neonate with a right atrial mass that was diagnosed prenatally. The fetus developed a supraventricular tachycardia and was delivered by cesarean section in
Campbell, A. +5 more
core +1 more source
A correlative study between white matter lesions of migraine and patent foramen ovale
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Migraine is a kind of common primary headache, which seriously damages human health and quality of life. Recent studies show there is a high incidence of white matter lesions (WML) in migraineurs, which is independent of other risk factors for ...
Qiang ZHANG, Guo-gang LUO
doaj
Ultrasound in Obstetrics &Gynecology, Volume 66, Issue 3, Page 353-360, September 2025.ABSTRACT Objective To characterize the fetoplacental response to acute maternal hyperoxygenation (AMH) in fetuses with suspected coarctation of the aorta (CoA) using fetal cardiac magnetic resonance imaging (MRI). Methods Pregnant women carrying a fetus with suspected CoA were recruited prospectively from a tertiary fetal cardiology center as part of ...
M. P. M. van Poppel +10 more
wiley +1 more source
Patent foramen ovale presenting as visual loss [PDF]
, 2017 Retinal artery occlusion in an otherwise healthy, young patient is rare. In this context it is important to consider patent foramen ovale as a differential. Early referral to a cardiology specialist for diagnosis and treatment is important for preventing
Arif, S +4 more
core
Intermittent Interatrial Block in a Patient With Recurrent Transient Ischemic Attacks
Annals of Noninvasive Electrocardiology, Volume 30, Issue 5, September 2025.This case underscores the clinical importance of recognizing IAB, particularly intermittent forms, in patients with ESUS. ABSTRACT Interatrial block (IAB) is a conduction disorder linked to atrial fibrillation (AF) and ischemic stroke. Intermittent IAB, often triggered by premature atrial complexes (PACs), may precede AF and increase thromboembolic ...
Serhat Kesriklioglu +3 more
wiley +1 more source