Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel

We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogeni

Calculation of Optical Signal Using Three-Dimensional Bidomain/Diffusion Model Reveals Distortion of the Transmembrane Potential

Optical mapping experiments allow investigators to view the effects of electrical currents on the transmembrane potential, Vm, as a shock is applied to the heart. One important consideration is whether the optical signal accurately represents Vm. We have combined the bidomain equations along with the photon diffusion equation to study the excitation and emission of photons during optical mapping of cardiac tissue. Our results show that this bidomain/diffusion model predicts an optical signal that is much smaller than Vm near a stimulating electrode, a result consistent with experimental observations. Yet, this model, which incorporates the effect of lateral averaging, also reveals an optical signal that overestimates Vm at distances >1 mm away from the electrode. Although Vm falls off with distance r from the electrode as exp(−r/λ)/r, the optical signal decays as a simple exponential, exp(−r/λ). Moreover, regions of hyperpolarization adjacent to a cathode are emphasized in the optical signal compared to the region of depolarization under the cathode. Imaging methods utilizing optical mapping techniques will need to account for these distortions to accurately reconstruct Vm

A case-control study of risk factors for death from 2009 pandemic influenza A(H1N1): Is American Indian racial status an independent risk factor?

Historically, American Indian/Alaska Native ( AI/AN ) populations have suffered excess morbidity and mortality from influenza. We investigated the risk factors for death from 2009 pandemic influenza A( H1N1 ) in persons residing in five states with substantial AI/AN populations. We conducted a case-control investigation using pandemic influenza fatalities from 2009 in Alaska, Arizona, New Mexico, Oklahoma and Wyoming. Controls were outpatients with influenza. We reviewed medical records and interviewed case proxies and controls. We used multiple imputation to predict missing data and multivariable conditional logistic regression to determine risk factors. We included 145 fatal cases and 236 controls; 22% of cases were AI/AN. Risk factors ( P 45 years vs. < 18 years], pre-existing medical conditions ( mOR 7·1 ), smoking ( mOR 3·0 ), delayed receipt of antivirals ( mOR 6·5 ), and barriers to healthcare access ( mOR 5·3 ). AI/AN race was not significantly associated with death. The increased influenza mortality in AI/AN individuals was due to factors other than racial status. Prevention of influenza deaths should focus on modifiable factors ( smoking, early antiviral use, access to care ) and identifying high-risk persons for immunization and prompt medical attention

Conducting qualitative research in audiology: A tutorial

Objective: Qualitative research methodologies are being used more frequently in audiology as it allows for a better understanding of the perspectives of people with hearing impairment. This article describes why and how international interdisciplinary qualitative research can be conducted. Design: This paper is based on a literature review and our recent experience with the conduction of an international interdisciplinary qualitative study in audiology. Results: We describe some available qualitative methods for sampling, data collection, and analysis and we discuss the rationale for choosing particular methods. The focus is on four approaches which have all previously been applied to audiologic research: grounded theory, interpretative phenomenological analysis, conversational analysis, and qualitative content analysis. Conclusions: This article provides a review of methodological issues useful for those designing qualitative research projects in audiology or needing assistance in the interpretation of qualitative literature