First Detection of 1p36 Deletion by Whole‐Exome Sequencing in a Tunisian Patient
ABSTRACT Study Objective We reported a rare case of 1p36 deletion syndrome diagnosed using whole‐exome sequencing (WES) in a Tunisian neonate, and to highlight the utility of WES in detecting structural variants, particularly in resource‐limited settings.
Nesrine Kerkeni +6 more
wiley +1 more source
Nasal Septum Perforation Repair: Simplicity and low Morbidity Using the Temporalis Fascia and Silicone Films. [PDF]
Anastasopoulos G +4 more
europepmc +1 more source
Timeline of the patient's clinical course from birth to follow‐up: (birth, diagnosis, NICU admission, prostaglandin infusion, surgery date, post‐op NICU stay, discharge and 3 month follow‐up). ABSTRACT Patients with Tetralogy of Fallot (TOF) with pulmonary atresia present high perioperative risks during non‐cardiac surgeries, making anesthetic ...
Prince Barnawal +4 more
wiley +1 more source
Ectopic thyroid carcinoma in the nasal septum: A case report. [PDF]
Guo S, Xue H, Zhou J, Qin F.
europepmc +1 more source
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis
ABSTRACT Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years. Mortality is primarily due to seizures and lower respiratory tract infections.
Molly M. Crenshaw +11 more
wiley +1 more source
This study investigates the nasal branch of the anterior ethmoidal artery (NbAEA) and the cribroethmoidal groove (CrEGr) as novel and reliable anatomical landmarks for expanded endoscopic frontal sinusotomies. Through cadaveric dissections and a clinical case series, both structures were consistently identified and shown to aid safe and accurate ...
Alessandro Vinciguerra +13 more
wiley +1 more source
Radiographic Association of Maxillary Sinus Volume in Patients with Deviated Nasal Septum: A Systematic Review and Meta-analysis. [PDF]
Dhole A, Ramteke A, Motwani M.
europepmc +1 more source
MMP11 as a Prognostic Indicator for Inverted Papilloma Histologic Grade and Recurrence
Matrix metalloproteinase‐11 (MMP11) expression increases with inverted papilloma (IP) histologic grade and is significantly higher in patients who develop recurrence. Quantitative immunohistochemistry revealed that elevated MMP11 predicts both increased recurrence risk and shorter time to recurrence, independent of dysplasia.
Kush Panara +11 more
wiley +1 more source
Unveiling a Nasal Enigma: Pleomorphic Adenoma of Nasal Septum Causing Chronic Obstruction and Epistaxis. [PDF]
Karthikeyan P, Ashish S.
europepmc +1 more source
Clinical and Genetic Analysis of SMARCC2‐Related Diseases in Three Chinese Patients
In this article, we investigate the pathogenesis of three unrelated Chinese children who exhibited mild to moderate developmental delay, mild intellectual disability, facial dysmorphism, mild speech delay, hypotonia, feeding difficulties, brain abnormalities, attention deficit hyperactivity disorder (ADHD), and autistic behaviors. Furthermore, both the
Shan Ou +14 more
wiley +1 more source

