Duane retraction syndrome (DRS) is a congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze. Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness. Using genotype-phenotype correlations in humans and Mafb-knockout mice, we propose a threshold mo...

BACKGROUND AND PURPOSE 3D high-resolution MR imaging can provide reliable information for defining the exact relationships between the intraparotid facial nerve and adjacent structures. The purpose of this study was to explore the clinical value of using a surface coil combined with a 3D-PSIF-DWI sequence in intraparotid facial nerve imaging. MATERIALS AND METHODS Twenty-one healthy volunteer...

OBJECTIVE To evaluate clinician perception of voice quality, patient self-reported psychosocial impact of dysphonia, and glottic closure in patients who have undergone resection of the recurrent laryngeal nerve (RLN) and immediate operative reconstruction during thyroid surgery. STUDY DESIGN Prospective observational study. SETTING Single tertiary care hospital. SUBJECTS AND METHODS Nine ...

In this study, the adsorption behavior of the primary, secondary and tertiary alcohols over nanoscale (1 0 0) surface of defect spinel γ-alumina was investigated with the aid of density functional theory (DFT) at BLYP/DNP level of calculation. The influence of different substituents including alkyl, cycloalkyl, allyl and aryl were analyzed for free and adsorbed alcohols to shed light the adsorp...

Background: Intestinal atresia is a life-threatening problem requiring early active intervention. The aim of the study was to compare management outcomes between Duodenal-Atresia (DA) and Jejunoileal-Atresias (JIA). The secondary objective was to analyse tapering enteroplasty versus end-to-end anastomosis in JIA. Materials and Methods: Retrospective descriptive analysis of patients operated be...

Introduction As well described by all anatomists, the vessels of nose region, maxilla and sinus walls constitute a rich network of arteries and veins. Branches of the ophthalmic, maxillary and facial arteries supply the nose. They form anastomosis plexuses within the nasal mucosa. The anterior and posterior ethmoidal branches of the ophthalmic artery supply the frontal and ethmoidal sinuses and...

introduction: jejunoileal atresia (jia) is a common cause of neonatal intestinal obstruction and is a common surgical emergency. the aim of this study was to compare primary anastomosis without resection of the dilated segment with transanastomotic t tube jejunostomy (tatto) versus resection of the dilated segment without t tube as the control group for treatment of patients with jia. material ...

The timing of hypoglossal-facial nerve anastomosis is controversial. The present study was performed to clarify the influence of the timing of hypoglossal-facial nerve anastomosis on histological changes in the facial nerve and central nuclei using guinea pigs. The facial nerve was transected first at the labyrinthine portion, and then transected again at the stylomastoid foramen. Hypoglossal-f...

Knowledge of the anatomical organization of the hamstring muscles is necessary to understand their functions, and to assist in the development of accurate clinical and biomechanical models. The hamstring muscles were examined by dissection in six embalmed human lower limbs with the purpose of clarifying their gross morphology. In addition to obtaining evidence for or against anatomical partitio...