Results 61 to 70 of about 3,106 (209)

Congenital Insensitivity to Pain

Online Journal of Health & Allied Sciences, 2011
Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN). It is a rare disorder of unknown etiology associated with loss of pain sensation.
Praveen Kumar B,, Sudhakar S,, Prabhat MPV,   +2 more
doaj  

Hereditary sensory and autonomic neuropathy type V: Report of a rare case

Contemporary Clinical Dentistry, 2015
Hereditary sensory and autonomic neuropathy (HSAN) type V is a rare inherited disease caused by a mutation in the neurotrophic tyrosine kinase receptor, type 1 gene located on chromosome 1 (1q21-q22).
Ritesh Kalaskar, Ashita Kalaskar
doaj   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are multipotent, migratory stem‐like cells essential for vertebrate development that contribute broadly to many tissues including the craniofacial skeleton, peripheral nervous system, and pigment‐producing cells. Their development progresses through phases of induction, specification, delamination, migration, and ...
Allison E. Mancini, Mallorie P. Jenne, Michael L. Piacentino   +2 more
wiley   +1 more source

Genetic analysis of hereditary sensory, motor and autonomic neuropathies, including a rat model [PDF]

, 2003
The subject of this thesis is genetic research in two inherited neuropathies, the hereditary sensory and autonomic neuropathies (HSAN) and Charcot-Marie-Tooth diseases (CMTs). Two sections are included; the first is dedicated to identifying the causative
Lee, Ming-Jen
core   +1 more source

The neuroimmune axis and chronic pain disorders

iScience
Summary: Both the nervous system and the immune system alert and protect the body against pathogen invasion and damage, but the extent of their interactions have only truly been elaborated in the past few decades.
Rebecca A. Feenstra, Wilfred F.A. den Dunnen, Jon D. Laman   +2 more
doaj   +1 more source

Artificial Intelligence in Ophthalmology: From Methodological Advances to Clinical Translation and Future Directions

Eye &ENT Research, EarlyView.
ABSTRACT Artificial intelligence (AI) is reshaping ophthalmology from task‐specific image analysis toward multimodal, longitudinal, and clinically integrated decision support. This narrative review summarizes the methodological evolution of ophthalmic AI, including traditional machine learning, task‐specific deep learning, self‐supervised learning ...
Yuxin Liu, Hanruo Liu
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Optical Stimulation and Monitoring of the Peripheral Nervous System: Perspectives and Challenges Toward Clinical Translation

Laser &Photonics Reviews, EarlyView.
Optical neuromodulation with IR light allows stimulation of the PNS without the need for physical contact with the target nerve or without requiring any genetic modification. The clinical translation of this technique will pave the way to the development of neural interfaces for restoring sensory feedback in individuals with limb amputation.
Federica Piccirillo, Sarassunta Ucci, Anna Aliberti, Patrizio Vaiano, Alessia La Rocca, Francesca Angelone, Silvia Pascarella, Pellegrino Lippiello, Maria Concetta Miniaci, Giuseppe Prisco, Michela Russo, Francesco Amato, Deyanira Contartese, Milena Fini, Gianluca Giavaresi, Lucia Martini, Francesco Rosa, Cosimo Gentile, Emanuele Gruppioni, Armando Ricciardi, Andrea Cusano   +20 more
wiley   +1 more source

Insensibilité congénitale à la douleur

The Pan African Medical Journal, 2014
L'insensibilité congénitale à la douleur (ICD), est une affection rare de transmission autosomique récessive, caractérisée par une absence congénitale de la perception de la douleur.
Kawtar Inani, Fatimazahra Mernissi
doaj   +1 more source