H. V. Roos

Forensic DNA Phenotyping (FDP) encompasses an emerging set of technologies aimed at predicting physical characteristics of unknown suspects from crime scene DNA traces. In its application FDP involves a variety of settings: research laboratories where FDP tests are developed, forensic laboratories where FDP technologies are used to analyze crime scene DNA traces, and finally the criminal investigation, where results of tests are applied towards finding suspects. In this paper I show that the practices in each of these settings work by a different set of concerns, which I articulate by adopting the notion of “logics” as developed by Annemarie Mol. I ethnographically trace FDP from research lab to investigation, identifying three different logics along the way: those of accuracy, commonality, and valuing respectively. Taken together, I show that these practices do not linearly accumulate but form a heterogeneous assemblage, adding nuance to discussions surrounding FDP.

Introduction: Congenital myasthenic syndromes refer to a heterogenic group of neuromuscular transmission disorders. CMS-subtypes are diverse regarding exercise intolerance and muscular weakness, varying from mild symptoms to life-limiting forms with neonatal onset. Long-term follow-up studies on disease progression and treatment-response in pediatric patients are rare.Patients and Methods: We analyzed retrospective clinical and medication data in a cohort of 32 CMS-patients including the application of a standardized, not yet validated test to examine muscular strength and endurance in 21 patients at the last follow-up. Findings obtained in our cohort were compared with long-term follow-up studies of CMS-cohorts from the literature by considering the underlying molecular mechanisms. Outcomes of CMS-ST were compared to results of normal clinical assessment.Results: Thirty-two pediatric patients with defects in eight different CMS-genes were followed by a median time of 12.8 years. Fifty-nine percentage of patients manifested with first symptoms as neonates, 35% as infants. While 53% of patients presented a reduced walking distance, 34% were wheelchair-bound. Even under adequate therapy with pyridostigmine and 3,4-diaminopyridine, CHAT-mutations led to the progression of muscular weakness partly in combination with persistent respiratory and bulbar symptoms. RAPSN, CHRND, and CHRNB1 patients with neonatal manifestation, early respiratory problems, and bulbar symptoms showed a good and maintained treatment response. CHAT and CHRNE patients required higher PS dosages, whereas RAPSN patients needed a lower mean dosage at the last follow-up. The benefits of short-term medication and long-term progression of symptoms were highly dependent on the specific genetic defect. CMS-ST was carried out in 17/21 patients, determined affected muscle groups including bulbar and ocular symptoms, some of which were not reported by the patients.Conclusions: Our findings and comparison with the literature- suggest a better treatment-response and less severe progression of symptoms present in patients suffering from mutations in CMS-genes directly associated with receptor deficiency, while patients with defects leading to synaptopathy and presynaptic defects tend to have worse outcomes. Assessment of affected muscular groups and clinical symptoms by CMS-ST may be a useful tool for optimal therapeutic management of the patients, especially for future clinical studies.

Although a large number of studies have explored the main causes of gender inequality in academia, less attention has been given to the processes underlying the failure of gender equality initiatives to enhance gender representation, especially at the professorial level. We offer a critical discourse analysis of recently promulgated gender policy documents of the five Flemish universities, and demonstrate that defensive institutional work is a fundamental process underlying resistance to gender equality in the academic profession. That is, powerful organizational actors resist gender change by intentionally deploying a combination of discursive strategies that legitimate what we describe as non–time-bound gender equality initiatives: The expected outcomes are undetermined in time, and they delegitimate concrete, time-bound measures that define specific outcomes against well-defined deadlines. By explicitly bringing a temporal dimension into our analysis, we argue that defensive institutional work deflects questions regarding what ought to be achieved when, and contributes to the slow pace of gender change in academia.