Results 281 to 290 of about 55,513 (351)

First Detection of 1p36 Deletion by Whole‐Exome Sequencing in a Tunisian Patient

open access: yesBirth Defects Research, Volume 118, Issue 1, January 2026.
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]

open access: yesIndian J Otolaryngol Head Neck Surg
Anastasopoulos G   +4 more
europepmc   +1 more source

A Regional Approach to a Global Challenge: A Case Report of Caudal Anesthesia for Anoplasty in Tetralogy of Fallot With Pulmonary Atresia

open access: yesClinical Case Reports, Volume 14, Issue 1, January 2026.
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]

open access: yesInt J Surg Case Rep
Guo S, Xue H, Zhou J, Qin F.
europepmc   +1 more source

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis

open access: yesJIMD Reports, Volume 67, Issue 1, January 2026.
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

Nasal Branch of the Anterior Ethmoidal Artery and Cribroethmoidal Groove: New Frontal Sinus Landmarks

open access: yesThe Laryngoscope, Volume 136, Issue 1, Page 105-112, January 2026.
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

MMP11 as a Prognostic Indicator for Inverted Papilloma Histologic Grade and Recurrence

open access: yesThe Laryngoscope, Volume 136, Issue 1, Page 113-118, January 2026.
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

Clinical and Genetic Analysis of SMARCC2‐Related Diseases in Three Chinese Patients

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
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

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