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Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis
ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi +8 more
wiley +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
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Committees, Research Ethics Committees (See Research Ethics; Research Ethics Committees)
2021Research ethics committees have been established in a wide range of institutions where clinical research is conducted such as hospitals, research centers, and universities.
Henk ten Have +1 more
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The ethics of ethics committees
British Journal of Neuroscience Nursing, 2021An ethics committee serves a number of purposes, ranging from informed and considered deliberation and decision on difficult questions of clinical practice to acting as a vehicle for the pooling of multidisciplinary approaches to a proposed treatment.
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Ethics committees: an ethical dilemma
BMJ, 2011The year before we married we lived in sin, just outside Sunderland. We attempted to cook. The results were half baked, half cooked, and half eaten. Spitting food out, although not classic table etiquette, was common. But in our darkest hour we were saved by the supreme being, Delia Smith.
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Business Ethics in Ethics Committees?
The Hastings Center Report, 1990Business Ethics in Ethics Committees? A physical therapist employed at a physician-owned therapy service became distressed when the owner, an orthopedic surgeon, required the therapist to continue care for a patient beyond what could reasonably be documented as improvement.
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