Effectiveness of cognitive rehabilitation for people with multiple sclerosis: a meta-synthesis of patient perspectives

While previous randomised controlled trials and meta-analyses offer only limited evidence for the effectiveness of cognitive rehabilitation, qualitative studies examining patient perspectives report more positive outcomes. This meta-synthesis of qualitative studies examined patient perspectives of cognitive rehabilitation for memory, attention, and executive function problems in people with multiple sclerosis. Using set eligibility criteria, we screened electronic databases, reference lists, and academic networks for relevant papers. Seven papers (195 participants) were selected. Two independent researchers conducted quality appraisals of papers. Data analysis, guided by the thematic synthesis approach, yielded six main themes. These suggested that patients benefitted from the group environment in rehabilitation. Cognitive rehabilitation facilitated the participants’ reflection and awareness of their cognitive deficits, and was associated with increased knowledge and understanding of their illness. Increased strategy use was reported and associated with improvements in cognitive functioning and greater confidence and perseverance. Participants reported emotional and social improvements, and felt more optimistic. Overall, these changes had a positive impact on participants’ quality of life. This synthesis of qualitative studies indicates that people with multiple sclerosis who experience cognitive deficits benefit from cognitive rehabilitation programmes. This finding must, however, be viewed in light of the limitations of this meta-synthesis. The meta-synthesis was registered in the PROSPERO database under CRD42017040148.     

Sorsby fundus dystrophy: Insights from the past and looking to the future

Sorsby fundus dystrophy (SFD), an autosomal dominant, fully penetrant, degenerative disease of the macula, is manifested by symptoms of night blindness or sudden loss of visual acuity, usually in the third to fourth decades of life due to choroidal neovascularization (CNV). SFD is caused by specific mutations in the Tissue Inhibitor of Metalloproteinase-3, (TIMP3) gene. The predominant histo-pathological feature in the eyes of patients with SFD are confluent 20–30 m thick, amorphous deposits found between the basement membrane of the retinal pigment epithelium (RPE) and the inner collagenous layer of Bruch's membrane. SFD is a rare disease but it has generated significant interest because it closely resembles the exudative or “wet” form of the more common age-related macular degeneration (AMD). In addition, in both SFD and AMD donor eyes, sub-retinal deposits have been shown to accumulate TIMP3 protein. Understanding the molecular functions of wild-type and mutant TIMP3 will provide significant insights into the patho-physiology of SFD and perhaps AMD. This review summarizes the current knowledge on TIMP3 and how mutations in TIMP3 cause SFD to provide insights into how we can study this disease going forward. Findings from these studies could have potential therapeutic implications for both SFD and AMD.     

Dexamethasone potentiates in vitro blood-brain barrier recovery after primary blast injury by glucocorticoid receptor-mediated upregulation of ZO-1 tight junction protein

Owing to the frequent incidence of blast-induced traumatic brain injury (bTBI) in recent military conflicts, there is an urgent need to develop effective therapies for bTBI-related pathologies. Blood-brain barrier (BBB) breakdown has been reported to occur after primary blast exposure, making restoration of BBB function and integrity a promising therapeutic target. We tested the hypothesis that treatment with dexamethasone (DEX) after primary blast injury potentiates recovery of an in vitro BBB model consisting of mouse brain endothelial cells (bEnd.3). DEX treatment resulted in complete recovery of transendothelial electrical resistance and hydraulic conductivity 1 day after injury, compared with 3 days for vehicle-treated injured cultures. Administration of RU486 (mifepristone) inhibited effects of DEX, confirming that barrier restoration was mediated by glucocorticoid receptor signaling. Potentiated recovery with DEX treatment was accompanied by stronger zonula occludens (ZO)-1 tight junction immunostaining and expression, suggesting that increased ZO-1 expression was a structural correlate to BBB recovery after blast. Interestingly, augmented ZO-1 protein expression was associated with specific upregulation of the α⁺ isoform but not the α⁻ isoform. This is the first study to provide a mechanistic basis for potentiated functional recovery of an in vitro BBB model because of glucocorticoid treatment after primary blast injury.     

Lumbar Lipomeningomyelocele Associated with Multiple Café au Lait Spots: A Case Report

We report on a child with several café au lait spots in association with a lumbar lipomeningomyelocele as an apparently new association. Cutaneous markers, the identification of which plays a crucial role in the early diagnosis and management of spinal malformations, can accompany occult spinal dysraphism. Herein we report a case of lumbar lipomeningomyelocele associated with an overlying café au lait spot that served as a marker of occult spinal dysraphism. The patient also had segmental café au lait spots on the face, making the association unique.     

Long‐Term Follow‐Up of Pediatric Trachyonychia

Pediatric trachyonychia is an acquired nail disease that can cause distress to families. It is a poorly understood disease, and long‐term follow‐up data are lacking. We present an institutional review of 11 children with isolated pediatric trachyonychia followed over time. Children with the diagnosis of pediatric trachyonychia were identified and invited to participate. Pictures were taken on follow‐up and a questionnaire was answered. Exclusion criteria include having another diagnosis at the initial visit that causes nail dystrophy. Eleven patients with the diagnosis of pediatric trachyonychia were available for follow‐up. The mean age of appearance was 2.7 years (range 2–7 yrs) and the average follow‐up was 66 months (range 10–126 mos). Nine patients were treated with potent topical corticosteroids, one used only petrolatum, and one took vitamin supplements. One patient was found to have an additional skin and hair diagnosis of alopecia areata on follow‐up. On follow‐up, 82% noted improvement of the nails, whereas 18% noted no change. A majority of cases of pediatric trachyonychia are isolated and improve with time, regardless of treatment.