نتایج جستجو برای: urbach wiethe disease
تعداد نتایج: 1490423 فیلتر نتایج به سال:
A 9 year old boy with juvenile dermatomyositis developed pulmonary alveolar lipoproteinosis. This previously unreported association was treated successfully by bronchoalveolar lavage.
The amygdala is proposed to process threat-related information in non-human animals. In humans, empirical evidence from lesion studies has provided the strongest evidence for a role in emotional face recognition and social judgement. Here we use a face-in-the-crowd (FITC) task which in healthy control individuals reveals prioritised threat processing, evident in faster serial search for angry c...
Kirby (1994) has helpfully applied the terminology of signal detection theory to Watson's selection task. We agree with him that it is necessary to bring out the decision theoretic aspects of the selection task (Evans, Over & Manktelow, 1993), and Kirby makes an important contribution by doing this so fully for an abstract version of the task. However, there are problems with both the design of...
Patients suffering from Urbach-Wiethe syndrome (UWS), also known as lipoid proteinosis or hyalinosis cutis et mucosae, may have an ophthalmologist involved in the diagnosis and management of their disease. Along with moniliform blepharosis as a pathognomonic feature of the disease, an ophthalmologist may encounter other manifestations of UWS in any part of the eye such as cornea; conjunctiva; s...
THERE are two general approaches to the cytological localization of sites of drug action: (1) demonstration of the distribution of the active drug, or a close analog, at the cellular level following its systemic admini,stration, and (2) the demonstration at discrete loci of changes in the concentration of a specific group or compound with which the drug is known to react to produce its characte...
We report a case of hyalinosis cutis et mucosae, a rare disorder of hyalin deposition in skin and mucous membranes, in a 27-year-old male, whose coefficient of inbreeding was 0-0106 due to seven common ancestors, including an aunt of an early American president, in the eight preceding generations.
BACKGROUND The human amygdala plays a crucial role in processing social signals, such as face expressions, particularly fearful ones, and facilitates responses to them in face-sensitive cortical regions. This contributes to social competence and individual amygdala size correlates with that of social networks. While rare patients with focal bilateral amygdala lesion typically show impaired reco...
A 10-year-old girl born of consanguineous marriage presented with hoarseness of voice and difficulty in protruding tongue since last five years. No other family member was affected. Cardiovascular, ophthalmological and neurological examination was normal. Hematological profile was normal, including X-ray skull. Cutaneous examination showed classical multiple beaded papules along the eyelid marg...
Lipoid proteinosis is a rare genodermatosis characterized by multisystem involvement due to intracellular deposition of an amorphous hyaline material. Lipoid proteinosis is caused by mutations in the ECM1 gene. In many patients, skin and mucosa abnormalities are the first manifestation. When the CNS is affected, a wide variety of neurologic abnormalities may be present. The hallmark findings ar...
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