Rett syndrome: an eye‐tracking study of attention and recognition memory

Aim

The aim of this study was to examine attention and recognition memory for faces and patterns in Rett syndrome, a severely disabling neurodevelopmental disorder caused by mutations in the X‐linked MECP2 gene.

Method

Because Rett syndrome impairs speech and hand use, precluding most neuropsychological testing, the visual paired‐comparison paradigm (VPC) was used, together with eye tracking. In the VPC, two identical stimuli are presented for familiarization. On test, the familiar stimulus and a new one are paired, and recognition inferred from preferential looking to the novel target. Attention is measured by looking time, gaze dispersion, and number/length of fixations. Twenty‐seven female patients with Rett syndrome (mean age 10y 6mo; SD 6y 8mo, age range 2–22y) from the Rett clinic at a children's hospital were assessed in this study, along with 30 age‐ and sex‐matched typically developing participants (outpatients from the same hospital).

Results

Although patients with Rett syndrome showed recognition of both faces and patterns, with novelty scores greater than chance (50%), their performance was significantly poorer than that of the typically developing comparison group. Their attention to both was less mature and marked by a more narrowly focused gaze, with fewer and longer fixations. When inspecting faces, attention to the eyes was similar in both groups; however, patients with Rett syndrome tended to ignore the nose and mouth.

Interpretation

This is one of the first studies to characterize attention and memory in individuals with Rett syndrome. Visually based techniques, such as the VPC, open a new avenue for quantifying the cognitive phenotype associated with this syndrome.     

The cross‐pin retained implant supported restoration: a study of gasket placement and leakage

Background: Advantages of cross‐pin retained implant supported restorations (ISRs) include predictable retrieval and predictable retention. Unlike direct to fixture (DTF) or cement retained restorations, the prosthetic design of a cross‐pinned restoration retains gaps at the interfaces between the crown, abutment and cross‐pin screw. These spaces permit leakage into the suprastructure and gasket placement has been recommended to prevent this leakage. Methods: Five different gaskets were assessed for their ability to prevent leakage into a cross‐pinned ISR. The gaskets tested were: cement admixture on the cross‐pin screw; cement admixture on the inner surface of the coping and the cross‐pin screw; cement admixture on the inner surface of the coping only; cement admixture placed 1 mm from the margin of the coping and a filler placed in the abutment chimney. Results: Only gaskets which sealed both the cross‐pin screw interface and the abutment‐crown interface prevented leakage. A filler placed in the abutment chimney prevented leakage into this space but did not prevent fluid accumulating between the coping and abutment. Conservative placement of cement at the margin of the coping failed to prevent leakage. Conclusions: Cement gaskets may effectively prevent leakage into a cross‐pinned ISR. However, the use of a cement as a gasket has to be weighed against the issue of predictable retrieval, cement extrusion and incomplete seating.     

Orofacial neuralgia associated with a middle cerebral artery aneurysm

Chronic orofacial pain of neuropathic origin can present diagnostic and management dilemmas to dental practitioners and also affects the patient's quality of life. Intracranial aneurysms are a potential cause of stroke (e.g. sub‐arachnoid haemorrhage) that is usually associated with, high rates of mortality and morbidity. A patient who had been previously managed for symptoms of temporomandibular joint disorder (TMD) presented with sharp, shooting pain of moderate intensity. It was precipitated by swallowing, and radiated to the right throat, posterior border of the mandible, ear and temporomandibular joint. Clinical and radiological investigations ruled out odontogenic pain, TMD and other more common types of facial pain. Magnetic resonance imaging revealed a 7 × 6 mm aneurysm in the right middle cerebral artery (MCA) which was subsequently surgically clipped. Interestingly, the facial pain resolved after this procedure. Compression of the insular region of the brain innervated by the trigeminal, glossopharyngeal and vagus nerves provides a plausible explanation for the pain reported. To our knowledge, this is the first case of facial neuralgia associated with an aneurysm in the MCA which emphasizes the importance of a multidisciplinary approach in the diagnosis and management of unusual cases of chronic orofacial pain.     

A random set approach to confidence regions with applications to the effective dose with combinations of agents

The effective dose (ED) is the pharmaceutical dosage required to produce a therapeutic response in a fixed proportion of the patients. When only one drug is considered, the problem is a univariate one and has been well‐studied. However, in the multidimensional setting, that is, in the presence of combinations of agents, estimation of the ED becomes more difficult. This study is focused on the plug‐in logistic regression estimator of the multidimensional ED. We discuss consistency of such estimators and focus on the problem of simultaneous confidence regions. We develop a bootstrap algorithm to estimate confidence regions for the multidimensional ED. Through simulation, we show that the proposed method gives 95% confidence regions, which have better empirical coverage than the previous method for moderate to large sample sizes. The novel approach is illustrated on a cytotoxicity study on the effect of two toxins in the leukemia cell line HL‐60 and a decompression sickness study of the effects of the duration and depth of the dive. Copyright © 2014 John Wiley & Sons, Ltd.     

Endothelium and Vascular Smooth Muscle Cells in the Context of Uremia

It is obvious that retention of uremic toxins leads to endothelial dysfunction, which in turn initiates proliferation of vascular smooth muscle cells. Yet, the entity of the cascade of pathomechanisms has not sufficiently been elucidated. Endothelial dysfunction inevitably and irreversibly leads to progressive cardiovascular dysfunction and thereby represents the beginning of a life-limiting cascade. This review highlights important findings in this field.     

Biological resurfacing of the knee: a review of surgical management

Lesions of the articular surfaces of the knee have been managed by various techniques over the last 50 years. Surgical management has involved: excising the damaged area, refashioning the underlying bone to produce a fibrous response, and introducing allograft, autograft and synthetic materials to encourage a repair matrix. The techniques and their pitfalls are reviewed and discussed, and suggestions made as to the direction of future studies for the repair of osteochondral lesions in the painful knee.