Search

Natural history studies in neuromuscular disorders are vital to understand the disease evolution and to find sensitive outcome measures. We performed a longitudinal assessment of quantitative magnetic resonance imaging (MRI) and phosphorus magnetic resonance spectroscopy (31P MRS) outcome measures and evaluated their relationship with function in lower limb skeletal muscle of dysferlinopathy patients. Quantitative MRI/31P MRS data were obtained at 3 T in two different sites in 54 patients and 12 controls, at baseline, and three annual follow‐up visits. Fat fraction (FF), contractile cross‐sectional area (cCSA), and muscle water T2in both global leg and thigh segments and individual muscles and 31P MRS indices in the anterior leg compartment were assessed. Analysis included comparisons between patients and controls, assessments of annual changes using a linear mixed model, standardized response means (SRM), and correlations between MRI and 31P MRS markers and functional markers. Posterior muscles in thigh and leg showed the highest FF values. FF at baseline was highly heterogeneous across patients. In ambulant patients, median annual increases in global thigh and leg segment FF values were 4.1% and 3.0%, respectively (P< 0.001). After 3 years, global thigh and leg FF increases were 9.6% and 8.4%, respectively (P< 0.001). SRM values for global thigh FF were over 0.8 for all years. Vastus lateralis muscle showed the highest SRM values across all time points. cCSA decreased significantly after 3 years with median values of 11.0% and 12.8% in global thigh and global leg, respectively (P< 0.001). Water T2values in ambulant patients were significantly increased, as compared with control values (P< 0.001). The highest water T2values were found in the anterior part of thigh and leg. Almost all 31P MRS indices were significantly different in patients as compared with controls (P< 0.006), except for pHw, and remained, similar as to water T2, abnormal for the whole study duration. Global thigh water T2at baseline was significantly correlated to the change in FF after 3 years (ρ= 0.52, P< 0.001). There was also a significant relationship between the change in functional score and change in FF after 3 years in ambulant patients (ρ= −0.55, P= 0.010). This multi‐centre study has shown that quantitative MRI/31P MRS measurements in a heterogeneous group of dysferlinopathy patients can measure significant changes over the course of 3 years. These data can be used as reference values in view of future clinical trials in dysferlinopathy or comparisons with quantitative MRI/S data obtained in other limb‐girdle muscular dystrophy subtypes.

Tim Hodgson has joined the Radisson SAS hotel in Liverpool as food and beverage service manager. He had held the same position at London's Hyde Park Hilton hotel. BDL Hotel [...]

Aconsignment sales program can be a highly efficient method for transacting business through the distribution channel. Correctly implemented, consignment allows customers to access product in a timely fashion and protects […]

Localized juvenile spongiotic gingival hyperplasia is a relatively new histopathological diagnosis, presenting as a localized erythematous lesion of the anterior attached gingivae. Presenting in a peri-pubertal age, this condition is often misdiagnosed as ‘puberty gingivitis’. Here, two cases presenting to the Joint Paediatric-Oral Medicine clinic at the Eastman Dental Hospital are discussed.CPD/Clinical Relevance:Localized juvenile spongiotic gingival hyperplasia is a novel diagnosis, and one that is currently under-reported. Increased awareness of this condition is required for appropriate patient management.

Background and objectiveDysferlinopathies are a group of muscle disorders caused by mutations in the DYSFgene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests.MethodsWe present cross-sectional T1-weighted muscle MRI data from 182 patients with genetically confirmed dysferlinopathies. We have analysed the pattern of muscles involved in the disease using hierarchical analysis and presented it as heatmaps. Results of the MRI scans have been correlated with relevant functional tests for each region of the body analysed.ResultsIn 181 of the 182 patients scanned, we observed muscle pathology on T1-weighted images, with the gastrocnemius medialisand the soleusbeing the most commonly affected muscles. A similar pattern of involvement was identified in most patients regardless of their clinical presentation. Increased muscle pathology on MRI correlated positively with disease duration and functional impairment.ConclusionsThe information generated by this study is of high diagnostic value and important for clinical trial development. We have been able to describe a pattern that can be considered as characteristic of dysferlinopathy. We have defined the natural history of the disease from a radiological point of view. These results enabled the identification of the most relevant regions of interest for quantitative MRI in longitudinal studies, such as clinical trials.Clinical trial registrationNCT01676077.

The South African Constitution entrenches the achievement of equality as a founding value and the full and equal enjoyment of all rights and freedoms as a right and prohibits discrimination based on both sex and gender. Feminism is a movement to end sexism, sexist exploitation and oppression and to end all forms of gender discrimination. The Constitution, at its core, therefore embodies a feminist ideology. This has implications for the interpretation and application of all law and policy, including s 174 of the Constitution which requires the Judicial Service Commission (JSC) to consider ‘the need for the judiciary to reflect broadly the racial and gender composition of South Africa when judicial officers are appointed’. Broadly, the JSC's conduct between 1994 and 2014 evidences a failure to understand both gender and its constitutional mandate in terms of s 174 to proactively pursue the appointment of both female and feminist judges. Attempts to appoint more women, absent an appropriate understanding of gender, have resulted in both subtle and overt discrimination against female candidates for judicial selection. In order to remedy its misguided approach and fulfil its mandate the JSC must produce detailed guidelines on its approach to gender transformation of the judiciary, grounded in a feminist understanding of the Constitution. A unified feminist movement which embraces South Africa's feminist Constitution, with the support of a broad coalition of human rights advocacy groups and activist organisations, is urgently needed to guide the JSC in its understanding of feminism and gender, but also to hold the JSC to account when it betrays this mandate. Women are not a proxy for feminism; the South African judiciary is in dire need of a more feminist face. [ABSTRACT FROM AUTHOR]

Dry mouth can be disabling for the patient and challenging for the clinician to manage. Xerostomia is the subjective perception of oral dryness whereas salivary hypofunction is an objectively measured decrease in whole saliva production. Management includes saliva substitutes and stimulants which may only give partial symptom relief.

Vesiculobullous disorders of the oral cavity managed by oral medicine specialists include erythema multiforme, pemphigus vulgaris, paraneoplastic pemphigus and mucous membrane pemphigoid. These conditions can have significant effects on quality of life and potentially serious sequelae if not identified early.

Gastrointestinal disorders are common and occasionally extraintestinal manifestations can involve both the oral and facial tissues. This article describes the orofacial manifestations of selected gastrointestinal diseases and outlines their management.

Oral lichen planus is a common condition which can have negative effects on a patient's quality of life. This article reviews the aetiopathogenesis, management and malignant potential of oral lichen planus.

Visual neglect of left space following right parietal damage in humans involves a lateral bias in attention, apparent in many search tasks. We hypothesized that parietal neglect may also involve a failure to remember which locations have already been examined during visual search: an impairment in retaining searched locations across saccades. Using a new paradigm, we monitored gaze during search, while simultaneously probing whether observers judged they had found a new target, or judged instead that they were re-fixating a previously examined target. A patient with left neglect following focal right parietal infarction repeatedly re-fixated right locations. Critically, he often failed to remember that these locations had already been searched, treating old targets as new discoveries at an abnormal rate. In comparison, healthy age-matched control subjects rarely re-fixated targets, and mistook old targets as new targets even more rarely. The frequency of such mistakes in the parietal patient, for different conditions, correlated with the severity of his neglect. Control experiments indicated no perceptual localization deficit in non-search tasks. These results suggest a deficit in retaining searched locations across saccades in parietal neglect, in addition to the lateral spatial bias. Moreover, the former deficit exacerbates the latter, such that patients do not realize that the rightward locations favoured by their bias have already been examined during previous fixations and, for this reason, they saccade back to them repeatedly. The combination of the two deficits (a lateral bias plus a deficit in retaining locations already searched) may thus explain the pathological pattern of search that characterizes parietal neglect: why stimuli on the right are re-examined recursively, as if being searched for the first time, and hence why stimuli on the left continue to be ignored even with unlimited viewing time. These proposals accord with recent electrophysiological and functional imaging data, demonstrating posterior parietal involvement in the retention of target locations across saccades.

Background:Gingival overgrowth with ulceration has recently been recorded in 4 reports: (1) our report of a British patient with ligneous conjunctivitis in whom the gingival lesions appeared to be related to tranexamic acid—an antifibrinolytic agent; (2) a report of 2 Turkish patients and an Italian patient with mainly gingival lesions; (3) our report of 5 Turkish patients with mainly gingival lesions; and (4) a report of 3 new Turkish cases, which also were associated with gingival lesions and alveolar bone loss. These patients all had gingival swellings, and a minority had conjunctival involvement similar to ligneous conjunctivitis, although the etiology was unclear in all. Nevertheless, fibrin exudation was fundamental because the hyaline or amyloidaceous material seen on the gingival biopsy stained for fibrin but failed to stain for amyloid. Methods:We have examined 6 more patients who exhibited gingival swelling caused by amyloidaceous deposits that stained only for fibrin, and we assayed their plasminogen levels. Results:The plasminogen functional activity assayed in these 6 additional patients, and in 2 of the 5 patients previously reported by us, was significantly reduced. Conclusions:Gingival overgrowth with ulceration appears to be a new complication caused by plasminogen deficiency; it also appears to be related to ligneous conjunctivitis in some cases. (ORAL Surg Oral Med Oral Pathol Oral Radiol Endod 2001;91:334-7)

To investigate levels of quality of life (QoL) and determine associated predictors in patients with oral lichen planus (OLP).

An 84-year-old Caucasian woman was referred by her primary care dentist to the authors' department with progressive lower lip numbness of 2 months' duration initially noticed by the patient during toothbrushing. The paraesthesia was initially intermittent but became permanent within 1 month. The patient had not sustained any injury to the jaws and no dental treatment had been provided before symptoms started. A course of empirical antibiotics had no impact.She was previously diagnosed with hypertension, ischaemic heart disease and atrial fibrillation for which she was prescribed lisinopril, valsartan, atorvastatin, digoxin and warfarin. She had no known allergies. She was a non-smoker and drank alcohol occasionally. She was the main carer for her husband who suffers from multiple sclerosis.Clinical examination revealed reduced sensation to light touch and pinprick in the distribution of the left mental nerve. No other cranial nerve abnormalities were noted. Apart from mild tenderness in the left buccal sulcus opposite the lower left first premolar and a polyp-like lesion on the lower left lip, no other intraoral abnormalities were found.Initial blood tests including full blood count, haematinics, liver and renal function, glucose, erythrocyte sedimentation rate and bone profile were performed to rule out possible systemic causes of mental paraesthesia and were unremarkable. A panoramic radiograph (Figure 1) showed generalized osteoporosis with a loss of the lower border cortex and inferior dental canal outlines bilaterally. Subsequent magnetic resonance imaging (Figure 2) revealed extensive T1 areas of low marrow signal throughout the skull vault, skull base, cervical vertebrae and the clavicles with the entire left side of mandible showing reduced T1 signal in keeping with mandibular marrow replacement. The appearances were consistent with extensive bone metastatic disease with marrow infiltration of the left side of the mandible involving the mental nerve. Further blood tests revealed normal immunoglobulins and absence of paraprotein.Oncological referral and further investigation including chest X-ray, whole body computed tomography scan and bone marrow aspiration and trephine confirmed a diagnosis of follicular lymphoma.

Offers pieces of advice on how to manage patients with recurrent mouth ulcers. Disorders which cause the ulceration of the mouth; Information on the recurrent aphthous stomatitis (RAS); Risk factors of RAS.

Two letters to the editor are presented in response to topics featured in previous issues including the nonselection for promotion in the U.S. National Guard in the July 2014 issue and the Air National Guard shield in the August 2014 issue.