Results 81 to 90 of about 10,587 (266)

End-Stage Renal Disease in Familial Amyloidosis ATTR Val30Met: A [PDF]

, 2003
Transplant Proc. 2003 May;35(3):1116-20. End-stage renal disease in familial amyloidosis ATTR Val30Met: a definitive indication to combined liver-kidney transplantation.
Beirão, I., Henriques, A.C., Lobato, L., Miranda, H.P., Pereira, M.C., Sarmento, A.M., Seca, R., Teixeira, M., Ventura, A.   +8 more
core  

Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro [PDF]

, 2018
Hereditary sensory neuropathy type 1 (HSN-1) is a peripheral neuropathy most frequently caused by mutations in the SPTLC1 or SPTLC2 genes, which code for two subunits of the enzyme serine palmitoyltransferase (SPT).
Abramov, AY, Bennett, DLH, Clark, AJ, Greensmith, L, Kalmar, B, Kugathasan, U, Reilly, MM, Wilson, ER   +7 more
core   +1 more source

Congenital insensitivity to pain: Review with dental implications

Indian Journal of Pain, 2014
Pain causes a reflex withdrawal from any stimuli that can cause actual or potential tissue damage. It is frequently an early symptom of a disease process and is often the impetus for a patient to seek medical treatment.
A Vijay Kumar, H P Jaishankar, Purnachandrarao Naik   +2 more
doaj   +1 more source

Frequency of peripheral neuropathy in newly diagnosed patients of diabetes mellitus iion clinical and electrophysiological basis [PDF]

, 2014
To determine the frequency of peripheral neuropathy in newly diagnosed patients of Diabetes Mellitus type II on clinical and electrophysiological basis.
Ali Lakhiar, Muslim, Hafeez Bughio, Abdul, Naeem Shahbaz, Naila, Prakash, Jai   +3 more
core   +1 more source

Speech-language findings on pain congenital insensitivity with anhydrosis: case report [PDF]

, 2007
PURPOSE: case report of congenital insensitivity to pain with anhydrosis of a 3-year-old child as well as discussing the speech-language findings, in relation to the aspects of the stomatognathic system, highlighting the process of rehabilitation for ...
Chiappetta, Ana Lúcia de Magalhães Leal, Roza, Rosemere Teixeira   +1 more
core   +3 more sources

Non‐invasive and efficient diabetic retinal mitochondrial repair nanoplatform based on engineered endothelial mitochondrial‐derived vesicles with dynamic integrated stress response modulation

Interdisciplinary Medicine, EarlyView.
Under hyperglycemic conditions, mitochondrial dysfunction in retinal endothelial cells triggers excessive reactive oxygen species/reactive nitrogen species production, barrier protein degradation, and endothelial barrier breakdown in diabetic retinopathy.
Siyu Gui, Jie Gao, Tianchang Tao, Peng Wang, Zhihao Huang, Yuyang She, Jiajie Li, Jingwan Su, Zhe Lu, Jianchao Qiao, Song Wang, Xiaodong Sun, Mohan Li   +12 more
wiley   +1 more source

A RETREG1 variant is associated with hereditary sensory and autonomic neuropathy with acral self-mutilation in purebred German Spitz.

Animal Genetics
Hereditary sensory and autonomic neuropathies (HSAN) represent a group of genetic diseases affecting the peripheral nervous system. In humans, at least 16 loci have been associated with the disorder but do not explain the disease origin of all patients ...
A. Letko, P. Quignon, Maéva Quilleré, J. Husson, C. D. de Citres, Jonas Donner, S. Dréano, J. Plassais, Catherine André   +8 more
semanticscholar   +1 more source

What Role Does the Central Nervous System Play in Refractory LUTS, and What Are the Therapeutic Implications? ICI‐RS 2025

Neurourology and Urodynamics, EarlyView.
ABSTRACT Aims While many patients with lower urinary tract symptoms (LUTS) improve by treating peripheral causes, a substantial proportion continue to experience symptoms despite apparently successful interventions. Central nervous system (CNS) mechanisms could potentially contribute to persisting symptoms after the initial peripheral cause has been ...
Mathijs M. de Rijk, Michel Wyndaele, Ana Charrua, Christopher Fry, Paul Abrams, Gommert A. van Koeveringe, Anthony J. Kanai, Marcus J. Drake   +7 more
wiley   +1 more source

[Hereditary sensory and autonomic neuropathy 1E showing hyperreflexia: a case report].

Rinshō shinkeigaku Clinical neurology
A 52-year-old man had developed hearing loss since childhood, as well as recurrent foot ulcers and osteomyelitis since his forties. He presented with gait disturbance and dysarthria that had worsened over four years and a month, respectively ...
Hitoshi Hayashida, Yukimasa Arita, K. Koh, Y. Takiyama, Koji Ikezoe   +4 more
semanticscholar   +1 more source

A Spaetzle-like role for nerve growth factor beta in vertebrate immunity to Staphylococcus aureus [PDF]

, 2014
Many key components of innate immunity to infection are shared between Drosophila and humans. However, the fly Toll ligand Spaetzle is not thought to have a vertebrate equivalent.
A. Kaser, Addis, Aloe, Aranda, Ashburner, B. Ochoa, B. Surewaard, Belvin, Bischoff, C. A. Loynes, C. Bryant, C. G. Woods, C. Klapholz, Carnesecchi, Chamy, Chen, Cohen, D. M. Grogono, de Tayrac, Floto, Floto, Guo, G  mez, Hoffmann, Howe, J. Cachat, J. Connolly, K. Brown, K. Hegyi, K. L. Hammond, Kwan, L. Hepburn, L. Minichiello, L. Wang, Lemaitre, Lowy, M. E. Torok, M. Holden, M. Otto, M. Schiebler, Mizuguchi, Murzin, N. V. Ogryzko, Needham, Novick, Otten, P. Ligoxygakis, P. Moreno, Paradis, Peschon, Prajsnar, Prajsnar, R. A. Floto, R. Antrobus, Renna, Rice, Rigby, Rotthier, S. A. Renshaw, S. J. Foster, S. J. Peacock, S. L. Seneviratne, Seidah, Shi, Sofroniew, Stuart, Surewaard, T. Blundell, T. K. Prajsnar, T. Ny, Thwaites, Valanne, Vitt, Weber, Wu, Zhu   +75 more
core   +1 more source