We describe three families to highlight the variability of expression and penetrance that can occur in the craniosynostoses. In two of the families, gene carriers were only identified in retrospect by looking at photographs of other family members. In the third family, identical twins were initially thought to be discordant for sagittal craniosynostosis until early skull x rays were examined an...

BACKGROUND The gold standard for evaluating medical students' knowledge is by multiple choice question (MCQs) tests: an objective and effective means of restituting book-based knowledge. However, concerns have been raised regarding their effectiveness to evaluate global medical skills. Furthermore, MCQs of unequal difficulty can generate frustration and may also lead to a sizable proportion of ...

BACKGROUND Leak after a sleeve gastrectomy (SG) is a severe complication. Risk factors, such as regional ischemia, increased intraluminal pressure, technical failure of the stapling device, and surgeon error, have been reported. OBJECTIVES It was hypothesized that intraoperative hypotension is another risk factor for leak, similar to that reported for colorectal surgery. SETTING Tertiary te...

A fistula is defined as an abnormal association of two or more epithelial lining. Therefore, vesicocutaneous fistula (VCF) represents an extra anatomic communication between the bladder wall and the external surface of the skin. The most common cause is iatrogenic; however, numerous factors may play a role in the formation of VCFs. When a VCF is identified, it should be treated properly due to ...

OBJECTIVE Hypernasality in velocardiofacial syndrome (VCFS) is more severe, persistent, and difficult to manage compared to other populations with cleft palate or velopharyngeal (VP) dysfunction. This pilot study investigated why children with VCFS have more severe hypernasality. METHODS Pressure-flow methodology indirectly measured VP orifice size and VP closure timing during speech in a gro...

Let π ⊗ σ be a supercuspidal representation of GL(2n)× SO(2n) over a p-adic field with π selfdual, where SO(2n) stands for a quasisplit even special orthogonal group. In order to study its normalized parabolic induction to SO(6n), Goldberg and Shahidi defined a pairing R between the matrix coefficients of π and σ which controls the residue of the standard intertwining operator. The elliptic par...

The anesthetic management of plastic surgical procedures in the pediatric population is often challenging because of the variety of congenital syndromes that require cosmetic repair.These syndromes are associated with altered airway anatomy, as well as complex coexisting medical conditions.This chapter reviews anesthetic management of the more commonly performed plastic surgery procedures – cle...

Carriers of the rare 22q11.2 microdeletion present with a high percentage of positive and negative symptoms and a high genetic risk for schizophrenia. Visual processing impairments have been characterized in schizophrenia, but less so in 22q11.2 Deletion Syndrome (DS). Here, we focus on visual processing using high-density EEG and source imaging in 22q11.2DS participants (N = 25) and healthy co...

Ninety-two children with velocardiofacial syndrome (VCFS), a genetic disorder caused by a microdeletion of chromosome 22q11.2 and an age, race, and gender-ratio comparable sample of 59 control participants were included in the project. Participants received an MRI as well as a comprehensive neuropsychological battery; the primary outcome measure in the current report is the Rey-Osterrieth Compl...