نتایج جستجو برای: urbach wiethe

تعداد نتایج: 420  

Journal: :Biochemical pharmacology 1962
G B KOELLE

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...

Journal: :Journal of Ayub Medical College, Abbottabad : JAMC 2008
Javeria Samiullah Marium Neelofar Fatima Samad Ghulam Nabi Saadia Ghazal

BACKGROUND Urbache-Wiethe disease (Lipoid Proteinosis) is a rare autosomal recessive disorder characterized by the deposition of an eosinophilic hyaline-like material in the skin, larynx, mucous membranes, brain, and other internal organs. METHODS A survey of one year duration was carried out prospectively at the Department of Dermatology, Ayub Teaching Hospital Abbottabad to document cases o...

Journal: :Journal of medical genetics 1975
R C Juberg P R Winder L L Turk

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.

Journal: :Journal of clinical and diagnostic research : JCDR 2012
Sushil G Kachewar Devidas S Kulkarni

Lipoid Proteinosis (LP) is a genetically linked, autosomally transferred, rare, chronic multisystem disease which is characterized by a normal lipid profile, but with abnormal deposits of lipids and proteins in the body, which slowly but steadily leads to systemic manifestations. Although it affects almost all the systems of the body, it predominantly manifests as lesions on the skin and it has...

Journal: :AJNR. American journal of neuroradiology 2010
F G Gonçalves M B de Melo V de L Matos F R Barra R E Figueroa

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...

2012
Seyed-Mojtaba Abtahi Farzan Kianersi Mohammad-Ali Abtahi Seyed-Hossein Abtahi Arash Zahed Hamid-Reza Fesharaki Zahra-Alsadat Abtahi Shahzad Baradaran Mehdi Mazloumi Saeed Naghiabadi

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...

Journal: :Biological psychiatry 2012
Benjamin Becker Yoan Mihov Dirk Scheele Keith M Kendrick Justin S Feinstein Andreas Matusch Merve Aydin Harald Reich Horst Urbach Ana-Maria Oros-Peusquens Nadim J Shah Wolfram S Kunz Thomas E Schlaepfer Karl Zilles Wolfgang Maier René Hurlemann

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...

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