Results 61 to 70 of about 744 (162)

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

A case of a hereditary, late progressing sensory autonomic neuropathy

, 1998
A case of a hereditary sensory autonomic neuropathy (HSAN) with severe medical complications that had been reported as nonprogressive HSAN typo II has been followed and treated for a period of 10 years, and is now considered to be progressive HSAN type ...
Onganer, E, Cinar, Y, Ince, U, Ince, B, Hekimoglu, F   +4 more
core   +1 more source

Keratoconus associated with hereditary sensory and autonomic neuropathy II

Indian Journal of Ophthalmology, 2022
Zalak Shah, Shwetambari Singh, Dipali Purohit, Neha Shilpy   +3 more
doaj   +1 more source

Hereditary sensory autonomic neuropathy type V: a rare case report

, 2018
Hereditary sensory autonomic neuropathy (HSAN) type V is a rare autosomal recessive condition caused by mutation in neurotrophic tyrosine kinase receptor type 1 gene located on chromosome 1 (1q21-1q22).
Madhura S., Sowrabha ., Manjunath ., Savitha M. R.   +3 more
core   +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

Nonprogressive type II hereditary sensory autonomic neuropathy: a homogeneous clinicopathologic entity.

, 1992
Two different clinical subtypes were previously identified within hereditary sensory autonomic neuropathy (HSAN) type II: a stable congenital form and a progressive one. This paper discusses two clinicopathologic cases of nonprogressive HSAN type II with
Gerard Ferrière, Philippe Evrard, Kulakowski, S, Francesco Guzzetta, Guzzetta, F., Sophie Kulakowski, Ferrière, G, Evrard, Philippe   +7 more
core   +1 more source

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

, 2009
Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction. Here we show that loss-of-function mutations in FAM134B, encoding a newly identified cis-Golgi protein ...
Gal, Andreas, Rotthier, Annelies, Huebner, Antje K., Gudrun Nürnberg, Pamminger, Torsten, Andreas Gal, Ingo Kurth, Huebner, Christian A., Haluk Topaloglu, De Jonghe, Peter, Timmerman, Vincent, Jonathan Baets, Vincent Timmerman, Topaloglu, Haluk, Senderek, Jan, Jan Senderek, J Christopher Hennings, Désirée Soehendra, Christoph Kaether, Nuernberg, Peter, Hennings, J. Christopher, Annelies Rotthier, Sandra A Farrell, Peter Nürnberg, Peter De Jonghe, Kurth, Ingo, Soehendra, Desiree, Torsten Pamminger, Christian A Hübner, Antje K Huebner, Nuernberg, Gudrun, Baets, Jonathan, Farrell, Sandra A., Kaether, Christoph   +33 more
core   +2 more sources

Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)

, 2006
Hereditary sensory and autonomic neuropathy type I (HSAN I) is the most frequent type of hereditary neuropathy that primarily affects sensory neurons.
O'Donovan, Dominic G., Lennox, G, Groves, M, Hammons, S, Thomas, P.K., Reilly, M, Woodward, C, Groves, Mike, King, R, O'Donovan, DG, Houlden, H, Blake, Julian, Blake, J, Nicoll, J, Woodward, Cathy, Hammans, Simon, Thomas, PK, King, Rosalind, Lennox, Graham, Nicoll, James A., Houlden, Henry, Love, Seth, Gabriel, Carolyn, Reilly, Mary M., Love, S   +24 more
core   +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

Congenital Insensitivity to Pain with Anhidrosis in an Iranian Patient

Basic and Clinical Neuroscience, 2013
Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose their feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene ...
Nasrollah Saleh-gohari, Marzye Mohammadi-Anaie   +1 more
doaj   +2 more sources