Citations

ABSTRACTIntroductionThe aim of this study was to test the proficiency (accuracy among evaluators) of measured attributes of nerve conduction (NC).MethodsExpert clinical neurophysiologists, without instruction or consensus development, from 4 different medical centers, independently assessed 8 attributes of NC in 24 patients with diabetes mellitus (DM) on consecutive days.ResultsNo significant intraobserver differences between days 1 and 2 were found, but significant interobserver differences were seen. Use of standard reference values did not correct for these observed differences.ConclusionsInterobserver variability was attributed to differences in performance of NC. It was of sufficient magnitude that it is of concern for the conduct of therapeutic trials. To deal with interrater variability in therapeutic trials, the same electromyographers should perform all NC assessments of individual patients or, preferably, NC procedures should be more standardized. A further trial is needed to test whether such standardization would eliminate interobserver variability. Muscle Nerve 48: 369–374, 2013

The presence of microbialite structures in a freshwater, dimictic mid-latitudelake and their establishment after the last ice age about 10,000 years ago is puzzling.Freshwater calcite microbialites at Pavilion Lake, British Columbia, Canada, consist of acomplex community of microorganisms that collectively form large, ordered structuredaggregates. This distinctive assemblage of freshwater calcite microbialites was studied through standard microbial methods, morphological observations, phospholipid fatty acid(PLFA) analysis, DNA sequencing and the identification of quorum sensing molecules.Our results suggest that the microbialites may represent a transitional form from theexclusively prokaryotic colonial precursors of stromatolites to the multicellular organismicaggregates that give rise to coral reefs.

AbstractMycobacterium tuberculosis infection is one of many opportunistic infections in renal transplant recipients, arising either from reactivation of latent infection or de novo infection, occasionally donor derived. M. tuberculosis hepatitis has never been reported in patients who have received alemtuzumab as part of their renal transplant management. We describe 2 patients who underwent deceased‐donor renal transplantation following alemtuzumab induction therapy and presented with a febrile syndrome, subsequently diagnosed as tuberculous hepatitis, one with disseminated disease. Both responded well to treatment without significant side effects, resulting in excellent graft function. The importance of chemoprophylaxis should be emphasized to minimize the risk of developing active tuberculosis in patients with latent tuberculosis infection undergoing solid organ transplantation.

Abstract BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presumably because one wild-type BRCA1 allele is required during embryogenesis. This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to have one allele with a deleterious mutation in BRCA1, c.2457delC (p.Asp821Ilefs*25), and a second allele with a variant of unknown significance in BRCA1, c.5207T>C (p.Val1736Ala). Medical records revealed short stature, microcephaly, developmental delay, and significant toxicity from chemotherapy. BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. These findings represent the first validated example of biallelic deleterious human BRCA1 mutations and have implications for the interpretation of genetic test results. Significance: Accurate assessment of genetic testing data for BRCA1 mutations is essential for clinical monitoring and treatment strategies. Here, we report the first validated example of an individual with biallelic BRCA1 mutations, early-onset ovarian cancer, and clinically significant hypersensitivity to chemotherapy. Cancer Discov; 3(4); 399–405. ©2012 AACR. See related commentary by D'Andrea, p. 376 This article is highlighted in the In This Issue feature, p. 363

Over the last two decades there has been considerable deliberation, experience, and research in the arena of Health Information Technology (HIT), Electronic Medical Records (EMR), Electronic Health Records (EHR), and more recently, Electronic Personal Health Records (PHR). Despite the challenges involved in adopting these systems and technologies, there is consensus that they bring significant value to the delivery of trusted and affordable healthcare. The investment involved and the impact on customers, clinical and non-clinical staff, and processes are significant and far reaching. This chapter attempts to synthesize the vast amount of information, experience, and implementation perspectives related to Electronic Health Records with the intent of assisting healthcare institutions and key stakeholders make informed choices as they embark on designing, developing, and implementing an EHR. EHR considerations, challenges, opportunities, and future directions are also addressed. The chapter highlights the power of management engineering to facilitate planning, implementation, and sustainability of the EHR, a critical asset for a healthcare organization and the overall healthcare industry.

AbstractBackgroundTo investigate anatomical configuration of ciliary body and iris using ultrasound biomicroscopy as a predictor of malignant glaucoma development.DesignRetrospective study in a tertiary care hospital.ParticipantsCohort of 31 consecutive patients diagnosed with post‐surgical malignant glaucoma.MethodsAnterior chamber angle, iris and ciliary body configuration of involved eyes that had ultrasound biomicroscopy evaluation prior to the malignant glaucoma onset were evaluated. In cases with no presurgical ultrasound biomicroscopy exam of the involved eye, images from the fellow eye (imaged within 6 months) were analysed.Main Outcome MeasuresQualitative parameters.ResultsThirty‐one eyes (31 patients) had confirmed malignant glaucoma between 1996 and 2008. Most patients were women (65%) and had an anatomical narrow angle or angle‐closure glaucoma (77%). Mean intraocular pressure at diagnosis was 30.4 ± 13.5 mmHg. The most common operation was trabeculectomy with mitomycin C (55%, 17/31 eyes), combined (3/17) or not (14/17) with cataract extraction and intraocular lens implantation. Among these 31 cases, we were able to evaluate the ultrasound biomicroscopy images of 13 patients (13 eyes) including involved eyes imaged prior to the malignant glaucoma onset or eligible fellow eyes. A narrow angle with or without iridotrabecular contact was found in all eyes. A large and/or anteriorly positioned ciliary body associated with an iris root angulating forward and centrally, revealing a plateau iris configuration, was noticed in 85% (11/13) of these eyes.ConclusionIdentification of plateau iris configuration by ultrasound biomicroscopy should be considered as a possible predictor of post‐operative malignant glaucoma development.