Published in The Laryngoscope
22q11.2-deletion syndrome is a genetic condition that affects 1:3000 births. In addition to cardiac anomalies and immunosuppression, individuals with 22q11.2-deletion syndrome can have feeding difficulties from birth resulting in failure to thrive and infections. This study aims to characterize the dysphagia seen in infants with 22q11.2-deletion sy...
Published in Cardiovascular revascularization medicine : including molecular interventions
Emergent Transcatheter Aortic Valve Replacement (TAVR) is a strategy that has been used for management of severely decompensated patients who are unlikely to tolerate an open procedure (Kolte et al., 2018). Recently, in the context of degenerated valve bioprosthesis, valve-in-valve (ViV) transcatheter aortic valve replacement has become an acceptab...
Published in The American Journal of Case Reports
Patient: Male, newborn Final Diagnosis: 22q11.2 deletion syndrome Symptoms: Congenital heart disease • eczema Medication:— Clinical Procedure: — Specialty: Immunology • Pathology • Pediatrics and Neonatology Objective: Rare co-existance of disease or pathology Background: Chromosome 22q11.2 deletion syndrome (22q11.2 DS) currently includes DiGeorge...
Published in Schizophrenia Bulletin
The 22q11.2 deletion syndrome (22q11.2 DS), one of the highest genetic risk for the development of schizophrenia, offers a unique opportunity to understand neurobiological and functional changes preceding the onset of the psychotic illness. Reduced auditory mismatch negativity response (MMN) has been proposed as a promising index of abnormal sensor...
Published in The Annals of otology, rhinology, and laryngology
Double aortic arch is a rare congenital malformation of the aortic arch that most frequently presents in childhood. Early surgical intervention typically yields excellent outcomes. To describe aortotracheal fistula as a rare, yet serious complication of vascular ring and subsequent aortic aneurysm in an adult patient. Clinical history, as well as r...
Published in The American Journal of Case Reports
Patient: Female, 14-year-old Final Diagnosis: 22q11.2DS with vestibular dysfunction Symptoms: Balance problems Medication:— Clinical Procedure: Comprehensive balance assessment Specialty: Otolaryngology Objective: Challenging differential diagnosis Background: The 22q11.2 deletion syndrome (22q11.2DS) is the most common identified microdeletion in ...
Published in MedEdPORTAL : the Journal of Teaching and Learning Resources
Introduction Advances in genomic medicine contribute to increased demand for clinical genetics services and require physicians to understand the interprofessional practice of this field. Medical students receive a foundation in genetics during preclinical studies, but variability in clinical experience may limit knowledge of and recruitment into th...
ABSTRACT Purpose: The aim of this study was to identify the most typical and relevant categories of the International Classification of Functioning, Disability and Health (ICF) for patients with 22q11.2 Deletion Syndrome. Methods: Based on the Delphi technique an expert survey through e-mail was performed among health professionals’ specialists in ...
ObjectivesOur ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the proximal and distal information processes that utilize these representations. Impairment of spatial...
Restricted and repetitive behaviors (RRB) are common in individuals with 22q11.2 microdeletion syndrome (22q11.2DS), yet the underlying mechanisms of these behaviors remain poorly characterized. In the present pilot investigation, we aimed to further our understanding of RRB in 22q11.2DS by exploring their relationship with cognitive control and an...
