Congenital absence of the pericardium is a very uncommon condition that may be focal, unilateral or bilateral but most frequently involves the left sided pericardium. Clinical signs and symptoms are often absent or nonspecific, overlapping with many other more common conditions. Imaging findings are distinctive if the features are sought and recognized.
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http://dx.doi.org/10.1053/j.sult.2021.05.005 | DOI Listing |
Front Pediatr
December 2024
Department of Neonatal Intensive Care Unit, The First Affiliated Hospital of Zhengzhou University, Henan, China.
Background: Congenital tracheal stenosis (CTS) is a rare but life-threatening malformation of the trachea. Surgical reconstruction is the treatment of choice in symptomatic cases which is highly risky and is rarely performed in extremely premature infants. With this, reporting a case of CTS managed by tracheal reconstructive surgery under ECMO in a baby weighing 1.
View Article and Find Full Text PDFFront Med (Lausanne)
December 2024
Department of Ophthalmology, Clínica Universidad de Navarra, Pamplona, Spain.
Introduction: The prevalence of myopia has increased significantly in recent years including an earlier onset of myopia development on the pediatric population. The main objective of the study is to compare CUVAF (Conjunctival Ultraviolet Autofluorescence) in children with and without myopia to validate its usefulness as an outdoor protective biomarker.
Methods: A case-control observational study was conducted in a child cohort from subjects that attended to the Ophthalmology Department of Clínica Universidad de Navarra for an ophthalmological examination.
Eur Heart J Case Rep
December 2024
Electrophysiology Department, Rede D'Or São Luiz, R. Santo Amaro, 80 - Glória, Rio de Janeiro - RJ, 22211-230, Brazil.
Background: The congenital absence of the left atrial appendage (LAA) is an extremely rare anatomical anomaly, with only 23 cases documented in medical literature. The LAA plays a critical role in thrombus formation, particularly in patients with atrial fibrillation (AF), thus impacting stroke prevention strategies and the management of anticoagulation.
Case Summary: We report a 48-year-old male with a 2-year history of hypertension and prior episodes of tachycardic palpitations, who presented with AF and chest pain.
Case Rep Dermatol
December 2024
Department of Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakrah, Qatar.
Introduction: Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by the localized absence of skin at birth, primarily affecting the scalp but also affecting the trunk and limbs. Nine different presentations have been reported. Group V-ACC (G-V ACC) is a rare type associated with fetus papyraceus.
View Article and Find Full Text PDFFront Genet
December 2024
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
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