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Intussusception of Meckel's Diverticulum: A Case Report.
Cureus
December 2024
Colorectal Surgery, Blackpool Teaching Hospitals, Blackpool, GBR.
Meckel's diverticulum (MD) is a common congenital anomaly of the gastrointestinal tract, present in approximately 2% of the population. While typically asymptomatic, MD can lead to complications such as obstruction and intussusception. Here, we present a case report of a man presenting with abdominal pain with an incidental finding of MD complicated by intussusception and our management approach.
View Article and Find Full Text PDFConcealed penis: A review of multilevel classification and surgical reconstruction techniques.
BJUI Compass
January 2025
Department of Urology Xiangya Hospital, Central South University Changsha China.
Concealed penis (CP), also known as hidden or buried penis, is an external genital deformity in which a normal-sized penis is covered by skin, subcutaneous tissue or fat tissue in the prepubic area, leading to abnormal exposure. This condition has significant morbidity and a negative effect on certain aspects of the patient's quality of life, including but not limited to hygiene, micturition, self-image and sexual function. Current classification systems for CP are heterogeneous, but most of these further classify CP based on their division into congenital concealed penis (CCP) and adult-acquired buried penis (AABP).
View Article and Find Full Text PDFA Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.
Mol Genet Genomic Med
February 2025
Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Background: Sensorineural hearing loss (SNHL) is a frequent manifestation of syndromic inherited retinal diseases (IRDs), exemplified by the very rare form of autosomal-dominant Leber congenital amaurosis with early onset deafness (LCAEOD; OMIM #617879). LCAEOD was first described in 2017 in four families segregating heterozygous missense mutations in TUBB4B, a gene encoding a β-tubulin isotype. To date, only eight more families with similar TUBB4B-associated sensorineural disease (SND) have been reported.
View Article and Find Full Text PDFPulmonary Morbidity in Congenital Diaphragmatic Hernia Survivors Treated at a Non-ECMO Center From 1998 to 2015: A Cross-Sectional Study.
Pediatr Pulmonol
January 2025
Department of Clinical Research, Faculty of Health sciences, University of Southern Denmark, Odense, Denmark.
Introduction: A main feature of CDH is lung hypoplasia and the related presentation of pulmonary hypertension and cardiac dysfunction. Multiple factors influence pulmonary status after CDH: degree of hypoplasia, ventilator-induced injury, altered growth and development of pulmonary structures, reduced diaphragm function and chest wall abnormalities. The evolution of pulmonary sequela in this population is still unclear.
View Article and Find Full Text PDFFree-breathing multi-parametric SASHA (mSASHA) mapping provides reliable non-contrast myocardial characterization in a pediatric and adult congenital population.
Int J Cardiovasc Imaging
January 2025
Cardiovascular MR R&D, Siemens Medical Solutions USA, Inc., Chicago, IL, USA.
Parametric mapping has become a standard of care technique for the non-invasive assessment of myocardial edema and fibrosis. Conventional MOLLI-based T1 mapping is susceptible to many confounding effects particularly in the pediatric population. The requirement for compliant breath holds is a major limitation for younger or more ill patients.
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