Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32

Some MCP SNP and aHUS-associated MCP mutation     

The clinical encounter as local moral world: Shifts of assumptions and transformation in relational context

In this study we consider the process of the clinical encounter, and present exemplars of how assumptions of both clinicians and their patients can shift or transform in the course of a diagnostic interview. We examine the process as it is recalled, and further elaborated, in post-diagnostic interviews as part of a collaborative inquiry during reflections with clinicians and patients in the northeastern United States. Rather than treating assumptions by patients and providers as a fixed attribute of an individual, we treat them as occurring between people within a particular social context, the diagnostic interview. We explore the diagnostic interview as a landscape in which assumptions occur (and can shift), navigate the features of this landscape, and suggest that our examination can best be achieved by the systematic comparison of views of the multiple actors in an experience-near manner. We describe what might be gained by this shift in assumptions and how it can make visible what is at stake for clinician and patient in their local moral worlds—for patients, acknowledgment of social suffering, for clinicians how assumptions are a barrier to engagement with minority patients. It is crucial for clinicians to develop this capacity for reflection when navigating the interactions with patients from different cultures, to recognize and transform assumptions, to notice ‘surprises’, and to elicit what really matters to patients in their care.     

Limited posterolateral surgical approach to the knee for excision of osteoid osteoma

An 18-year-old man suffered four years of undiagnosed knee pain until a CAT scan revealed an epiphyseal osteoid osteoma of the tibia located subchondrally, just medial to the proximal tibiofibular joint. A nidus in this location is not easily accessible, and its proximity to the joint surface raised concerns about damage to the tibial plateau. To facilitate excision of the tumor, cadaveric dissections were performed to develop a limited posterior approach to the proximal, lateral portion of the tibia. The CAT scan was used to calculate the precise dimensions of the tumor and its relation to the posterior tibial cortex and the proximal tibiofibular joint. With the use of the exposure developed in the laboratory and the calculations derived from the CAT scan, the tumor could be excised by removing a single block of bone 15 mm3. Intraoperative radiographs confirmed the presence of the nidus within the excised block of bone. This case report reaffirms the frequent difficulties and tardiness in diagnosing osteoid osteomas and the need to include these tumors in the differential diagnosis of knee pain and epiphyseal lesions. Before CAT scans were used, the working diagnoses were torn meniscus, juvenile rheumatoid arthritis, and bone hemangiomatosis.     

Effect of olanzapine treatment on platelet glutamine synthetase-like protein and glutamate dehydrogenase immunoreactivity in schizophrenia.

According to contemporary views, the glutamatergic system is implicated in the pathogenesis of schizophrenia, and atypical neuroleptics exert their effects (at least partially) through the glutamatergic system. Immunoreactive glutamate-metabolising enzymes, such as glutamine synthetase-like protein (GSLP) and two glutamate dehydrogenase isoenzymes (GDH), have been discovered in human platelets. The amount of GSLP in the platelets of 40 chronic patients with schizophrenia was found to be significantly higher than in 33 controls (consistent with our previous finding of increased amounts of GSLP in the prefrontal cortex of chronic schizophrenia patients). Moreover, survival analysis of the group of patients treated with olanzapine for 28 weeks showed that the larger amount of GSLP measured in platelets before treatment, the shorter the treatment time needed to achieve a positive clinical response (defined a priori as > or = 20% reduction in PANSS total score from the initial level before the treatment). Hence, GSLP level may serve as a predictor of the treatment duration to achieve a positive outcome with olanzapine. Both GSLP and GDH were found significantly changed in the course of treatment; hence, treatment with olanzapine influences the amounts of glutamate-metabolising enzymes in the platelets of chronic schizophrenia patients.