Anti-Jo-1 Syndrome presenting as cryptogenic organizing pneumonia

AbstractA 50-year-old Chinese lady presented with subacute onset of dyspnoea, bilateral infiltrates on chest X-ray and type I respiratory failure. There were minor symptoms of arthralgia and myalgia. Subsequent investigations confirmed that she had organizing pneumonia, polymyositis and serum anti-Jo-1 antibody. Treatment with corticosteroids resulted in prompt improvement of the respiratory condition and myositis

The composition of the protosolar disk and the formation conditions for comets

Conditions in the protosolar nebula have left their mark in the composition of cometary volatiles, thought to be some of the most pristine material in the solar system. Cometary compositions represent the end point of processing that began in the parent molecular cloud core and continued through the collapse of that core to form the protosun and the solar nebula, and finally during the evolution of the solar nebula itself as the cometary bodies were accreting. Disentangling the effects of the various epochs on the final composition of a comet is complicated. But comets are not the only source of information about the solar nebula. Protostellar disks around young stars similar to the protosun provide a way of investigating the evolution of disks similar to the solar nebula while they are in the process of evolving to form their own solar systems. In this way we can learn about the physical and chemical conditions under which comets formed, and about the types of dynamical processing that shaped the solar system we see today. This paper summarizes some recent contributions to our understanding of both cometary volatiles and the composition, structure and evolution of protostellar disks.Comment: To appear in Space Science Reviews. The final publication is available at Springer via http://dx.doi.org/10.1007/s11214-015-0167-

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Background: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. Objective: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. Methods: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-kappa B) signaling. Results: We classified 56 of the 105 distinct NFKB1 variants in 157 individuals from 68 unrelated families as pathogenic. Incomplete clinical penetrance (70%) and age-dependent severity of NFKB1-related phenotypes were observed. The phenotype included hypogammaglobulinemia (88.9%), reduced switched memory B cells (60.3%), and respiratory (83%) and gastrointestinal (28.6%) infections, thus characterizing the disorder as primary immunodeficiency. However, the high frequency of autoimmunity (57.4%), lymphoproliferation (52.4%), noninfectious enteropathy (23.1%), opportunistic infections (15.7%), autoinflammation (29.6%), and malignancy (16.8%) identified NF-kappa B1-related disease as an inborn error of immunity with immune dysregulation, rather than a mere primary immunodeficiency. Current treatment includes immunoglobulin replacement and immunosuppressive agents. Conclusions: We present a comprehensive clinical overview of the NF-kappa B1-related phenotype, which includes immunodeficiency, autoimmunity, autoinflammation, and cancer. Because of its multisystem involvement, clinicians from each and every medical discipline need to be made aware of this autosomal-dominant disease. Hematopoietic stem cell transplantation and NF-kappa B1 pathway-targeted therapeutic strategies should be considered in the future.Peer reviewe

Knowledge elicitation approach in enhancing tacit knowledge sharing

Purpose The purpose of this paper is to present an automatic Medical Knowledge Elicitation System (MediKES), which is designed to improve elicitation and sharing of tacit knowledge acquired by physicians. The system leverages the clinical information stored in electronic medical record systems, by representing the acquired information in a series of knowledge maps. Design/methodology/approach The system architecture of the proposed MediKES is first discussed, and then a case study on an application of the proposed system in a Hong Kong medical organization is presented to illustrate the adoption process and highlight the benefits that can be realized from deployment of the MediKES. Findings The results of the case study show that the proposed solution is more reliable and powerful than traditional knowledge elicitation approaches in capturing physicians' tacit knowledge, transforming it into a machine‐readable form, as well as enhancing the quality of the medical judgment made by physicians. Practical implications A prototype system has been constructed and implemented on a trial basis in a medical organization. It has proven to be of benefit to healthcare professionals through its automatic functions in representing and visualizing physicians' diagnostic decisions. Originality/value Knowledge is key to improving the quality of the medical judgment of physicians. However, researchers and practitioners are still striving for more effective ways of capturing tacit knowledge and transforming it into a machine‐readable form so as to enhance knowledge sharing. In this paper, the authors reveal that the knowledge retrieval and the visual knowledge representation functions of the proposed system are able to facilitate knowledge sharing among physicians. Thus, junior physicians can use it as a decision support tool in making better diagnostic decisions

Arrhythmia in a 38-year-old man.

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Copula Functions for Residual Dependency

item response theory, local item dependency, copula,