Results 1 to 10 of about 394 (137)

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis [PDF]

Case Reports in Medicine, 2012
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.
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   +9 more
doaj   +4 more sources

Urbach-Wiethe syndrome: report of two clinical cases [PDF]

Dermatology Reports
Urbach-Wiethe syndrome, also known as lipoid proteinosis (LP), is a rare genodermatosis clinically characterized by mucocutaneous lesions, dysphonia with onset in early childhood, and, sometimes, neurological complications.
Ilaria Demofonte, Emanuele Miraglia, Giovanni Pellacani, Sandra Giustini   +3 more
doaj   +5 more sources

Brain imaging findings in lipoid proteinosis (Urbach-Wiethe disease) [PDF]

Radiology Case Reports
We present neuroimaging and skin findings of Urbach-Wiethe disease (lipoid proteinosis) in 2 adult patients. Lipoid proteinosis is a rare, autosomal recessive disease that primarily affects the skin, the upper respiratory tract, and the central nervous ...
Athanasios Tsochatzis, MD, PhD, Nikolaos-Achilleas Arkoudis, MD, PhD, Varvara Pantoleon, MSc, Panagiotis Toulas, MD, Dimitrios Filippiadis, MD, PhD, Georgios Velonakis, MD, PhD   +5 more
doaj   +4 more sources

How can key findings from patients with Urbach-Wiethe Disease (UWD) support the role of amygdala in socio-emotional-cognitive functioning? The case of a young adult with genetically proven UWD without amygdala calcifications [PDF]

European Psychiatry, 2023
Introduction Urbach-Wiethe disease (UWD; also named Lipoid proteinosis or Hyalinosis cutis et mucosae) was first described in 1929 by the Austrian scientists Erich Urbach and Camillo Wiethe and constitutes an autosomal recessive disorder which is ...
A. Staniloiu, H. J. Markowitsch
doaj   +2 more sources

Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease), [PDF]

Anais Brasileiros de Dermatologia, 2022
Lipoid proteinosis is a rare autosomal recessive disease, characterized by hyaline deposits of PAS-positive material in tissues due to mutations in the ECM1 gene.
Hiram Larangeira de Almeida Jr, Raphael Goveia Rodeghiero, Patrícia Naomi Ando Suzuki, Marília Marufuji Ogawa   +3 more
doaj   +2 more sources

Urbach–wiethe disease: Hyalinosis cutis et mucosae

Oman Journal of Ophthalmology, 2021
Urbach-Wiethe Disease is an uncommon entity with autosomal recessive inheritance. We describe the clinical and histopathological findings of lipoid proteinosis in this clinical image.
Prabrisha Banerjee, Bipasha Mukherjee
doaj   +2 more sources

The Possible Contribution of the Amygdala to Memory [PDF]

Behavioural Neurology, Volume 6, Issue 3, Page 167-170, 1993., 1993
The processing of episodic memories is believed to depend on the proper functioning of so‐called bottleneck structures through which information apparently must pass in order to be stored long term. These regions are seen in the basal forebrain, the medial diencephalon, and the medial temporal lobe.
R. Babinsky, P. Calabrese, H. F. Durwen, H. J. Markowitsch, D. Brechtelsbauer, L. Heuser, W. Gehlen   +6 more
core   +2 more sources

Behavioral, neurological, and psychiatric frailty of autobiographical memory

WIREs Cognitive Science, Volume 14, Issue 3, May/June 2023., 2023
The five long‐term memory systems and their assumed brain bases. Abstract Autobiographical‐episodic memory is considered to be the most complex of the five long‐term memory systems. It is autonoetic, which means, self‐reflective, relies on emotional colorization, and needs the features of place and time; it allows mental time traveling. Compared to the
Hans J. Markowitsch, Angelica Staniloiu
wiley   +1 more source

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

Pediatric Dermatology, Volume 40, Issue 1, Page 113-119, January/February 2023., 2023
Abstract Background/objectives Lipoid proteinosis (LP) is a rare autosomal recessive multisystem disorder that is caused by loss‐of‐function pathogenic variants in the extracellular matrix protein‐1 (ECM1) gene. The typical clinical manifestations of LP include hoarseness of voice, beaded papules on the eyelids, infiltration and scarring of the skin ...
Mingfeng Li, Judith Fischer, Sylvia Safwat, Walaa Shoman, Yasmine El Chazli, Svenja Alter, Cristina Has, Ebtesam Abdalla   +7 more
wiley   +1 more source

Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing

Journal of Biochemical and Clinical Genetics, 2021
Background: The endoplasmic reticulum membrane protein complex 1 (EMC1) gene encodes a subunit of the EMC with multiple alternatively spliced transcripts encoding different isoforms. Monoallelic and biallelic mutations of the EMC1 gene have been reported
Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari   +5 more
doaj   +1 more source