Results 111 to 120 of about 10,587 (266)

Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects

Brain Sciences, 2020
Hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy is a progressive disease that is transmitted as an autosomal dominant trait and characterized by multiple organ failure, including axonal sensory-motor neuropathy, cardiac ...
Massimo Russo, Luca Gentile, Antonio Toscano, M’Hammed Aguennouz, Giuseppe Vita, Anna Mazzeo   +5 more
doaj   +1 more source

Persistence of fatigue in the absence of pathophysiological mechanisms in some patients more than 2 years after the original SARS‐CoV‐2 infection

Experimental Physiology, EarlyView.
Abstract Following an acute infection with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), a substantial percentage of patients report the persistence of debilitating symptoms, often grouped in a syndrome termed ‘long COVID’. We sought to identify potential pathophysiological mechanisms responsible for the persistence, in some long COVID ...
Giovanni Baldassarre, Lucrezia Zuccarelli, Thomas Favaretto, Caterina Ursella, Andrea Palomba, Paulo Cesar do Nascimento Salvador, Emanuela Sozio, Ernesto Crisafulli, Massimo Imazio, Carlo Tascini, Bruno Grassi   +10 more
wiley   +1 more source

Diagnostic approach to peripheral neuropathy

Annals of Indian Academy of Neurology, 2008
Peripheral neuropathy refers to disorders of the peripheral nervous system. They have numerous causes and diverse presentations; hence, a systematic and logical approach is needed for cost-effective diagnosis, especially of treatable neuropathies.
Misra Usha, Kalita Jayantee, Nair Pradeep   +2 more
doaj  

A Review of Tafamidis for the Treatment of Transthyretin-Related Amyloidosis [PDF]

, 2015
Transthyretin (TTR)-related amyloidosis (ATTR) is a devastating disease which affects a combination of organs including the heart and the peripheral nerves, and which has a fatal outcome if not treated within a average of 10 years.
Benson, Merril D., Waddington Cruz, Márcia   +1 more
core   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

Experimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Early onset hereditary sensory autonomic neuropathy type I and not leprosy

Indian Journal of Dermatology, 2009
Hereditary sensory autonomic neuropathies (HSAN) are rare forms of chronic neuropathies in children, which lead to severe complications like foot ulcers, mutilations, fractures and deformities.
Pande Sushil, Kharkar Vidya, Mahajan Sunanda, Khopkar Uday   +3 more
doaj  

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies [PDF]

, 2017
Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in the transient receptor potential vanilloid 4 gene were found to be associated with three distinct
Auer-Grumbach, Michaela, Baets, Jonathan, Barisic, Nina, Berciano, José, Boltshauser, Eugen, Crosby, Andrew H., Fischbeck, Kenneth H., Garcia, Antonio, Gaudet, Rachelle, Hilton-Jones, David, Houlden, Henry, Jonghe, Peter De, Jordanova, Albena, Landouré, Guida, Lopez-Laso, Eduardo, Ludlow, Christy L., McEntagart, Meriel, Merlini, Luciano, Reilly, Mary M., Shaw, Christopher E., Sumner, Charlotte J., Timmerman, Vincent, Zimoń, Magdalena   +22 more
core  

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist [PDF]

, 2014
Although sleep abnormalities in general and sleep-related breathing disorders (SBD) in particular are quite common in healthy children; their presence is notably under-recognized.
Arie Oksenberg, Natan Gadoth
core   +1 more source

Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications

Orthopaedics & Traumatology: Surgery & Research, 2013
Hereditary sensory and autonomic neuropathy type IV (HSAN-IV) is a very rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, extensive anhidrosis, total insensitivity to pain, hypotonia, and mental retardation.
Kim, W., Guinot, A., Marleix, S., Chapuis, M., Fraisse, B., Violas, P.   +5 more
openaire   +2 more sources

Glial cells in the heart: Implications for their roles in health and disease

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic representation of cardiac autonomic ganglia within epicardial fat pads (posterior heart surface shown), containing vagal postganglionic neuron cell bodies, associated fibres, and glia. These ganglia receive cholinergic input from vagal preganglionic neurons and adrenergic input from sympathetic postganglionic neurons ...
Svetlana Mastitskaya, Rimma Dugarova, Shefeeq M. Theparambil   +2 more
wiley   +1 more source