Publications by authors named "J Karila-Cohen"

Introduction: Microcephalic osteodysplastic primordial dwarfism (MOPD) syndrome type 2, caused by a mutation in the PCNT gene (21q22.3), is a rare autosomal recessive disorder. Patients present with bone dysplasia, insulin resistance, kidney diseases, and cardiac malformations, making them prone to vascular diseases.

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Aggregatibacter actinomycetemcomitans (Aa), a Gram-negative coccobacillus commonly associated with endocarditis, poses a rare diagnostic challenge in pediatric cases. The presentation of two pediatric cases-myositis and chest mass-highlights novel aspects, including unusual symptom presentations in children which can be mistaken for malignancy. The limited sensitivity of standard blood tests complicates diagnosis, leading to delayed diagnosis and treatment.

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Absence of connection of both coronary arteries to the aorta is an extremely rare congenital malformation. Most cases reported are anatomic variants of anomalous left coronary artery to pulmonary artery, found in isolation or in association with other congenital heart defects. We describe here four cases of patients born without any coronary artery connected to the aorta, including two with an almost complete absence of epicardial coronary arteries, one with single coronary artery to the right pulmonary artery, and one with left ventricular connection of a single coronary artery.

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Objectives: Disconnected pulmonary artery (PA) is a rare anomaly that can be isolated or associated with complex intracardiac malformations. Early reimplantation of the disconnected PA is recommended to allow growth and satisfactory pulmonary perfusion while preventing collateral artery development. The aim of this study was to describe the characteristics of patients with disconnected PA and, for those who had surgical reimplantation, to determine the incidence, delay and predictive factors of reintervention for reconnected PA stenosis.

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