Results 131 to 140 of about 48,714 (242)

Unraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Kartagener's Syndrome (KS), a rare autosomal recessive disorder and a subset of Primary Ciliary Dyskinesia (PCD), is characterized by chronic sinusitis, bronchiectasis, and, in approximately 50% of cases, situs inversus. This condition arises from genetic mutations that impair motile cilia function, leading to defective mucociliary clearance ...
Ibrahim Khalil, Sakib Abrar, Shah Tanvir Ahmed, Md. Imran Hossain   +3 more
wiley   +1 more source

Surgical Ventricular Septal Defect Repair. [PDF]

JACC Case Rep
Fournier E, Provost B, Dirickx A, Valdeolmillos E, Albenque G, Batteux C, Weixler V, Hascöet S, Belli E.   +8 more
europepmc   +1 more source

Poland Syndrome With Dextrocardia: A Rare Association Leading to Complex Cardiopulmonary Challenges

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Patients with Poland syndrome, especially those with left‐sided defects accompanied by dextrocardia, may be predisposed to significant respiratory and cardiac complications. This case underscores the importance of early recognition, thorough cardiopulmonary assessment, and proactive planning for airway management and ventilatory support to ...
Sai Kommineni, Anna Morse, Saisreeja Jekkireddy, Shyam Ganti, Maneesh Gaddam   +4 more
wiley   +1 more source

Case Report: Concurrent atrial and ventricular septal defect in a young Sphynx cat. [PDF]

Front Vet Sci
Lee J, Oh B, Oh SI, Kim B, Park H, Lee K, Yoon H.   +6 more
europepmc   +1 more source

VV‐ECMO Combined With M‐TEER for the Treatment of Mitral Valve Papillary Muscle Rupture Following Acute Myocardial Infarction PCI: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Mitral valve papillary muscle rupture represents a rare yet critical complication of acute myocardial infarction, often leading to severe mitral regurgitation and subsequent pulmonary edema with high mortality. Despite optimal ventilatory support and pharmacological management, patients often exhibit refractory hypoxemia, rendering surgical ...
Zhenjiang Liu
wiley   +1 more source

Late Presentation and Surgical Repair of Traumatic Ventricular Septal Defect Caused by an Old Gunshot Wound. [PDF]

JACC Case Rep
Hassanein H, Awad S, Semeyn M, Massad M, Abdelhady K.   +4 more
europepmc   +1 more source

Long‐Term Follow‐Up of Patients With Transaldolase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Transaldolase (TALDO) deficiency has a well‐characterized phenotype. However, there are few large cohort studies, and little is known about the long term, including the need for organ transplantation. Our aim was to share a long multicenter experience in managing these patients.
M. Scaglione, A. Brassier, A. Wiedemann, I. Jankowska, J. Pawłowska, T. Lamireau, L. Bridoux‐Henno, C. Douillard, T. Casswall, U. Cucinotta, M. Gaschignard, P. Socha, F. Feillet, B. Fischler, D. Samara‐Boustani, M. C. Schiaffino, M. Schiff, P. De Lonlay, F. Lacaille   +18 more
wiley   +1 more source

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee   +10 more
wiley   +1 more source

A Delayed Approach to Ventricular Septal Defect Repair After Myocardial Infarction. [PDF]

JACC Case Rep
Al Kindi S, Al-Jabri A, Maddali MM, Al Abri Q.   +3 more
europepmc   +1 more source

The Sooner, the Better: Neuroprotective Strategies in Fetuses With Congenital Heart Disease

Prenatal Diagnosis, Volume 46, Issue 3, Page 368-381, March 2026.
ABSTRACT Congenital heart disease (CHD) is the most frequent congenital malformation at birth and is associated with neurodevelopmental impairments. Alterations in cardiovascular physiology can lead to reduced cerebral blood perfusion and oxygenation, which negatively affects brain growth and maturation.
Maaike Nijman, Mirthe E. M. van der Meijden, Johannes M. P. J. Breur, Raymond Stegeman, Nicolaas J. G. Jansen, Mireille N. Bekker, Manon J. N. L. Benders, Nathalie H. P. Claessens   +7 more
wiley   +1 more source