Multiple brain developmental venous anomalies as a marker for constitutional mismatch repair deficiency syndrome

The occurrence of multiple developmental venous anomalies in this study of 10 patients with constitutional mismatch repair deficiency syndrome (CMMRD) suggests that developmental venous anomalies may be a characteristic of this syndrome that has not been previously described. A retrospective descriptive analysis of brain MR imaging studies from 3 families with CMMRD was performed. Analysis included the number of developmental venous anomalies, location, draining vessels, and associated vascular anomalies (for instance, cavernomas) with clinical correlation of symptoms and tumors. CMMRD is a cancer-predisposition syndrome with very high penetrance and most reported individuals are affected during childhoodInternational Biallelic Mismatch Repair Deficiency ConsortiumMeagan’s Walk, the CIHR Joint Canada- Israel Health Research Program, and an American Association for Cancer Research Stand Up 2 Cancer Catalyst TM Research Gran

Motivational interviewing for low mood and adjustment early after stroke: a feasibility randomised trial

Background Management of psychological adjustment and low mood after stroke can result in positive health outcomes. We have adapted a talk-based therapy, motivational interviewing (MI), and shown it to be potentially effective for managing low mood and supporting psychological adjustment post-stroke in a single-centre trial. In the current study, we aimed to explore the feasibility of delivering MI using clinical stroke team members, and using an attention control (AC), to inform the protocol for a future definitive trial. Methods This parallel two-arm feasibility trial took place in north-west England. Recruitment occurred between December 2012 and November 2013. Participants were stroke patients aged 18 years or over, who were medically stable, had no severe communication problems, and were residents of the hospital catchment. Randomisation was to MI or AC, and was conducted by a researcher not involved in recruitment using opaque sealed envelopes. The main outcome measures were descriptions of study feasibility (recruitment/retention rates, MI delivery by clinical staff, use of AC) and acceptability (through qualitative interviews and completion of study measures), and fidelity to MI and AC (through review of session audio-recordings). Information was also collected on participants’ mood, quality of life, adjustment, and resource-use. Results Over 12 months, 461 patients were screened, 124 were screened eligible, and 49 were randomised: 23 to MI, 26 to AC. At 3 months, 13 MI and 18 AC participants completed the follow-up assessment (63% retention). This was less than expected based on our original trial. An AC was successfully implemented. Alternative approaches would be required to ensure the feasibility of clinical staff delivering MI. The study measures, MI, and AC interventions were considered acceptable, and there was good fidelity to the interventions. There were no adverse events related to study participation. Conclusions It was possible to recruit and retain participants, train clinical staff to deliver MI, and implement an appropriate AC. Changes would be necessary to conduct a future multi-centre trial, including: assuming a recruitment rate lower than that in the current study; implementing more strategies to increase participant retention; and considering alternative clinical staff groups to undertake the delivery of MI and AC

How similar are the different results?

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/43555/1/11135_2004_Article_BF00145805.pd

Progression of terminal syrinx in occult spina bifida after untethering

Object: The association of spinal dysraphism and terminal syringomyelia is a well-known entity, and untethering with or without syrinx drainage is usually the surgery of choice. However, progression of the previously existing syrinx after an untethering procedure is an uncommon course. The objective of this study was to discuss the diagnostic, surgical, and follow-up consequences of such an occurrence. Methods: Four children with occult spina bifida associated with terminal syrinx at the time of initial presentation are included in this study. After the primary releasing procedure, all developed enlargement of the syrinx. Two of them were operated on for placement of a syringo-subarachnoid shunt, while the other two were followed up conservatively. One of the shunted patients also had a second releasing procedure. Conclusion: Progression of the pre-existing terminal syrinx after the primary untethering procedure should be kept in mind even in the absence of overt neurological progression

Diffusion tensor imaging in hydrocephalus: initial experience

PURPOSE AND BACKGROUND: Diffusion tensor imaging (DTI) is an MR imaging–based technique that provides an in vivo tool for visualization of white matter tracts. In this preliminary study, we used this technique to investigate the diffusion characteristics of white matter tracts in patients with hydrocephalus before and after surgery and compared them with age-matched volunteers. MATERIALS AND METHODS: Seven patients with different types of acute hydrocephalus (defined by acute clinical signs of increased intracranial pressure and imaging evidence of enlarged ventricles) underwent MR imaging including a DTI protocol before and after surgery for shunt placement/revision or ventriculostomy. Eight age-matched healthy subjects served as a control group. The DTI was acquired in a clinical setting that included 6 gradient directions with a b value of 1000 s/mm2. RESULTS: Before surgery, in fiber systems lateral to the ventricles (corona radiata), the diffusion parallel to the fibers was increased (+10%) and the diffusion perpendicular to the fibers was decreased (−25%) in all patients, resulting in an overall increase in the fractional diffusion anisotropy (FA, +28%). Following surgery, the FA values approached those of control values in all except 1 patient. In the corpus callosum, the presurgery FA values in patients with hydrocephalus (HCP) were lower than those of control values, and no significant changes were seen following surgery. CONCLUSIONS: DTI can distinguish the compression characteristics of white matter before and after surgery in patients with HCP. At the acute stage of the disease, DTI characteristics point to white matter compression as a possible cause of the observed changes