Emery-Dreifuss humeroperoneal muscular dystrophy: cardiac manifestations

Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder affecting skeletal and cardiac muscles and characterized by muscular atrophy, contractures, and cardiomyopathy with conduction defects. It can be X-linked or autosomal. Not all patients with EDMD develop heart involvement, but heart disease associated with EDMD can be unpredictable and may be life threatening. In rare cases heart problems may be the first symptom of EDMD. Early recognition of heart involvement is of utmost importance as placement of a pacemaker and/or defibrillator may be lifesaving.     

Vital pulpotomy in the primary dentition: attitudes and practices of community dental staff in Wales

OBJECTIVE: The International Agency for Research on Cancer (IARC) has classified formaldehyde as carcinogenic to humans, leaving the dental profession to look for viable substitutes to formocresol in the vital pulpotomy technique. This study was designed to examine the attitudes and practices of Community Dental Service (CDS) staff in Wales in relation to vital pulpotomy for primary molars 18 months following the IARC's press release. METHODS: The study employed a postal questionnaire. RESULTS: Questionnaires were returned by 79 (78.2%) of the CDS staff surveyed, yielding a sample of 65 dentists practising the technique. The most commonly used pulpotomy agents were formocresol, paraformaldehyde and ferric sulphate. Twenty-seven (41.5%) dentists expressed concern regarding their preferred pulpotomy agent and 17 (26.2%) were considering changing their technique. Only one respondent (1.5% of the sample) routinely took preoperative radiographs; follow-up radiographs were routinely taken by only three dentists (4.6%). Only 44 respondents (67.7%) always used local anaesthesia for this form of treatment. Amalgam was the most commonly used restorative material. Twenty-two respondents (33.8%) stated that they would pulp treat a primary molar on more than one occasion. CONCLUSIONS: The results of this study suggest that there is need for relevant continuing professional development courses for CDS staff in Wales.     

siRNA therapy in cutaneous T-cell lymphoma cells using polymeric carriers

Cutaneous T-cell lymphomas (CTCLs) arise from specific molecular aberrations that lead to uncontrolled cell proliferation. RNA interference (RNAi) with short interfering RNAs (siRNAs) is a feasible approach to interrupt aberrant signal processing in CTCL cells, but functional biomaterial carriers are needed to effectively deliver siRNAs intracellularly. Towards this goal, we explored the utility of lipid-substituted polyethylenimines (PEI) carriers in a cell model of CTCL. Using caprylic and linoleic acid substituted 2 kDa PEI (PEI-CA and PEI-LA, respectively), we showed effective delivery of siRNA to T-lymphocyte Hut78 and Jurkat cells, but silencing of a model protein (Green Fluorescent Protein, GFP) was possible only in the Hut78 cells. To enhance siRNA delivery to Hut78 cells, a high siRNA: carrier ratio used to assemble the complexes and centrifugation of cells in the presence of complexes were found effective. The toxicities of PEI-CA and PEI-LA were significantly lower than other commercial carriers, 25 kDa PEI and Lipofectamine^® RNAiMAX. This might have contributed to reduced siRNA delivery efficiency of the latter carriers. Screening several endogenous targets led us to identify phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K) and cyclin-dependent kinase 18 (CDK18) as viable targets to induce siRNA-mediated cell growth inhibition. The results of this study identified promising polymeric carriers and molecular targets that could control proliferation of CTCL cells based on RNAi therapy.     

Sequestered disc herniation mimicking psoas abscess: A rare case report

Intervertebral disc herniation is common condition, with majority occurring in lumbar and cervical spine. Most lumbar disk herniations occur within the spinal canal, with approximately 7%-10% identified within the foramen or extraforaminal location. Extraforaminal disc herniation in extreme lateral, retroperitoneal or anterior terms are used when disc material is seen towards anterolateral or anterior to the spine. Disc herniation in these locations is easily mistaken for an abscess or a neoplasm especially when it is not connected to the parent disc (sequestered disc). We describe a case of 60-year male who initially was misdiagnosed as psoas abscess and subjected to invasive investigation which later turned out to be histologically confirmed disc sequestration in the retroperitoneum. Thus, knowledge of this condition is essential in avoiding unnecessary workup and treatment.