Results 81 to 90 of about 9,576 (247)

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Peripheral Blood Cell Gene Expression Diagnostic for Identifying Symptomatic Transthyretin Amyloidosis Patients: Male and Female Specific Signatures [PDF]

, 2016
BACKGROUND: Early diagnosis of familial transthyretin (TTR) amyloid diseases remains challenging because of variable disease penetrance. Currently, patients must have an amyloid positive tissue biopsy to be eligible for disease-modifying therapies ...
Buxbaum, J., Coelho, T., Gelbart, T., Kelly, J., Kurian, S., Novais, M., Salomon, D., Whisenant, T.   +7 more
core   +1 more source

Older Adults' Self‐Care and Family Caregiver Contribution in Multiple Chronic Conditions: A Dyadic Qualitative Study

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aims To explore how older adult‐family caregiver dyads jointly manage multiple chronic conditions. Specifically, it investigates how dyads (i) prioritise chronic diseases, (ii) make and negotiate decisions related to self‐care and (iii) define and distribute self‐care tasks and caregiver contributions.
Giulia Andrea Baldan, Irene Dello Iacono, Valentina Giurissevich, Davide Ausili, Ercole Vellone, Maddalena De Maria, Maria Matarese   +6 more
wiley   +1 more source

Immune cell infiltration correlates with intestinal permeability, inflammation, and gastrointestinal symptoms in type 1 diabetes

Journal of Diabetes Investigation, EarlyView.
In individuals with type 1 diabetes, immune cell infiltration in the colon mucosa tended to correlate with fecal and systemic markers of intestinal permeability and inflammation, as well as gastrointestinal symptoms. These findings suggest that low‐grade gut immune activation might link the intestinal barrier dysfunction with systemic endotoxin ...
Polina Zalizko, Reinis Isaks, Leonora Pahirko, Aleksejs Fedulovs, Eduards Krustins, Jurijs Nazarovs, Sergejs Dubencovs, Hanne Salmenkari, Markku Lehto, Kaspars Jēkabsons, Una Riekstiņa, Per‐Henrik Groop, Niina Sandholm, Jeļizaveta Sokolovska   +13 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

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

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

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

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  

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