Results 31 to 40 of about 744 (162)

Cutaneous innervation in hereditary sensory and autonomic neuropathy type IV

open access: yes, 2000
The authors investigated immunocytochemically the innervation of a skin biopsy in a rare case of hereditary sensory and autonomic neuropathy type IV. A few protein gene product 9.5-, growth-associated protein 43-, calcitonin gene-related peptide-, and ...
Panzica, G C   +6 more
core   +1 more source

Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2017
Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties.
Abel Ramírez-Estudillo   +4 more
doaj   +1 more source

Advancing Human Skin Equivalents: The Crucial Role of Neurovascular Integration

open access: yesAdvanced Healthcare Materials, EarlyView.
This review discusses the importance of integrating vascular and peripheral nerve systems into human skin equivalents (HSEs) to better recapitulate native skin physiology. Recent advances in vascularized, innervated, and neurovascularized HSEs are highlighted, together with emerging bioengineering strategies, current challenges, and future ...
Hao Wu   +4 more
wiley   +1 more source

FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN

open access: yesPakistan Armed Forces Medical Journal, 2021
Majeed syndrome, characterized by chronic recurrent multifocal osteomyelitis and congenital dyserythropoeitic anemia, is a rare disease reported in children.
Qudrat Ullah Malik   +5 more
doaj   +3 more sources

Soft Skins With Reversible Thickness Morphing: Materials, Mechanisms, and Applications

open access: yesAdvanced Materials, EarlyView.
Evolution of electronic skin (e‐skin) technologies toward adaptive, multifunctional soft skins. Phase I highlights early rigid and discrete sensory interfaces. Phase II shows the transition toward flexible, stretchable, and large‐area e‐skin. Phase III captures the emergence of computational e‐skin.
Oliver Ozioko   +2 more
wiley   +1 more source

Generation of a transgenic mouse embryonic stem cell line expressing Dnmt1Y495C mutation associated with HSAN1E disorder

open access: yesStem Cell Research, 2021
DNMT1 Y495C is the most common mutation associated with hereditary sensory and autonomic neuropathy type 1E, and dementia. Here we employed non-homologous recombination and generated a mouse embryonic stem cell line carrying a transgene expressing DNMT1 ...
Sumana Choudhury, K. Naga Mohan
doaj   +1 more source

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis

open access: yesAdvanced Science, EarlyView.
Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong   +24 more
wiley   +1 more source

Congenital corneal anesthesia: A case series

open access: yesIndian Journal of Ophthalmology, 2022
Congenital corneal anesthesia (CCA) is an extremely rare condition where the cornea is affected in isolation or as a part of congenital syndrome, or can be associated with systemic anomalies.
Aruna P Jayarajan   +5 more
doaj   +1 more source

A Printed Hydrogel Hybrid Electronic System With Thermoresponsive Adhesion for Neurophysiological Monitoring

open access: yesAdvanced Science, EarlyView.
This work develops a soft hybrid electronic system with printed thermoresponsive hydrogel electrodes, which enables high‐fidelity neural signal acquisition and stimulation. The system precisely assesses median and ulnar nerve injuries in clinical cases, realizing accurate diagnosis of neural impairment while ensuring customized adhesion regulation ...
Bo Pang   +13 more
wiley   +1 more source

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case

open access: yeseNeurologicalSci, 2019
Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy.
Keisuke Yoshikawa   +11 more
doaj   +1 more source

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