BACKGROUND Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA patients. This approach was used to investigate three unrelated families in which previous single-gene analyses failed to identify the molecular ...

Introduction: Branchial arch anomalies represent defects in embryological developments whereby parts of the branchial arch persist in the head and neck regions as sinuses, fistulas, or cysts. These anomalies usually present as a unilateral lesion in the head and neck of young adults and children, which are excised upon the emergence of complications.   Case Report: Herei...

BACKGROUND In studies comparing open with endoscopic carpal tunnel release, return to work (RTW) is often cited as a primary outcome. OBJECTIVE The present study assessed the reporting of RTW and evaluated its usefulness in studies comparing these two methods of carpal tunnel release. METHODS A computerized search was conducted to find randomized controlled trials that compared open with en...

fMRI studies increasingly examine functions and properties of non-primary areas of human auditory cortex. However there is currently no standardized localization procedure to reliably identify specific areas across individuals such as the standard 'localizers' available in the visual domain. Here we present an fMRI 'voice localizer' scan allowing rapid and reliable localization of the voice-sen...

In an investigation of the auditory cortex response to speech, six subjects were studied using echo-planar functional magnetic resonance imaging (fMRI) at 2.1T. The subjects were asked to listen to English nouns presented at various rates ranging from 0 words per minute (wpm) to 130 wpm while fMRI images encompassing their primary and posterior superior secondary auditory cortices were acquired...

We investigated the basal ganglia, motor cortex area 4, and supplementary motor area (SMA) using functional magnetic resonance imaging (fMRI) and five motor tasks: switching between finger and toe movements, writing, finger tapping, pronation/supination, and saccadic eye movements. We found reliable activation in the caudate nucleus and putamen in single subjects without the need for inter-subj...

OBJECTIVES We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome. PATIENTS AND METHODS Three families from the south of Tunisia were identified as affected by Pendred syndrome. The patients and their families underwent ENT and general examination and audiovestibular and radiological tests. Molecular DNA analysis was performed by the Sfax...

BACKGROUND Immune related adverse events affecting various organ systems are a recognized potential consequence of immune checkpoint inhibition. However, autoimmune inner ear disease is one complication not previously associated with the use of checkpoint inhibitors, though it has been reported after adoptive cell immunotherapy. CASE PRESENTATION Here we present what we believe is the first c...

Background: Bilateral synchronous testis germ cell tumors with different histopathology are not common. Case Presentation: Here, a case of 27-year-old male who is reported presented with bilateral testicular swellings. There was a high α-fetoprotein level with bilateral lesions on scrotal USG. Bilateral orchiectomy was performed. According to pathology report, there was a right testicular semi...

We consider the matching problem with contracts of Hatfield and Milgrom (2005), and we introduce new concepts of bilateral and unilateral substitutes. We show that bilateral substitutes is a sufficient condition for the existence of a stable allocation in this framework. However, the set of stable allocations does not form a lattice under this condition, and there does not necessarily exist a d...