9 documents found, page 1 of 1

N88S seipin‑related seipinopathy is a lipidopathy associated with loss of iron ...

Background Seipin is a protein encoded by the BSCL2 gene in humans and SEI1 gene in yeast, forming an Endoplasmic Reticulum (ER)-bound homo-oligomer. This oligomer is crucial in targeting ER-lipid droplet (LD) contact sites, facilitating the delivery of triacylglycerol (TG) to nascent LDs. Mutations in BSCL2, particularly N88S and S90L, lead to seipinopathies, which correspond to a cohort of motor neuron diseas...

The 2021 Portuguese Society of Ophthalmology Joint Guidelines with Paediatric R...

Aim: To develop the first Ophthalmology joint guidelines with Paediatric Rheumatology with recommendations on the screening, monitoring and medical treatment of juvenile idiopathic arthritis-associated uveitis (JIA-U), endorsed by the Portuguese Society of Ophthalmology (SPO). Methods: A systematic literature review was conducted to include publications up to July 14th 2020, with no language restrictions, in or...

Causative links between ER stress and oxidative damage in a yeast model of huma...

Seipin is encoded by the gene Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) and FLD1/SEI1 in yeast. The gain-of-function N88S mutation in the BSCL2 gene was identified in a cohort of autosomal dominant motor neuron diseases (MNDs) collectively known as seipinopathies. Previous work has shown that this mutation disrupts N-glycosylation, leading to the formation of inclusion bodies (IBs) and contribut...

Personality, cognitive emotion regulation and insomnia

Inhibition of the formation in vitro of putatively carcinogenic metabolites der...

Infections caused by Schistosoma haematobium and Opisthorchis viverrini are classified as carcinogenic. Although carcinogenesis might be a multifactorial process, it has been postulated that these helminth produce/excrete oxysterols and estrogen-like metabolites that might act as initiators of their infection-associated carcinogenesis. Current treatment and control of these infections rely on a single drug, pra...

Why should we screen for perinatal depression? Ten reasons to do it

In this paper we review some of the best available evidence to argue that screening for perinatal depression should be systematically conducted since pregnancy. Our view is organized in ten topics: (1) perinatal depression high prevalence; (2) its potential negative consequences, including maternal, conjugal, foetal, infantile, and child effects; (3) its under-detection and treatment; (4) its stigma; (5) the pr...

The Stress Response to Surgery and Postoperative Delirium: Evidence of Hypothal...

Introduction: The aim of this study is to determine whether postoperative delirium is associated with dysregulation of hypothalamic—pituitary—adrenal and growth hormone/insulin-like growth factor 1 (GH/IGF-1) responses following acute systemic inflammation. Methods: Plasma levels of cortisol, IGF-1, C-reactive protein, interleukin (IL)-6, IL-8, and IL-10 were measured before and after surgery in 101 patients 60...

The Cholinergic System and Inflammation: Common Pathways in Delirium Pathophysi...

OBJECTIVES: To investigate whether delirium is associated with an unbalanced inflammatory response or a dysfunctional interaction between the cholinergic and immune systems. DESIGN: Cohort observational study. SETTING: General hospital orthopedic ward. PARTICIPANTS: One hundred one individuals aged 60 and older with no previous cognitive impairment undergoing elective arthroplasty. MEASUREMENTS: Incidence of po...

Low preoperative plasma cholinesterase activity as a risk marker of postoperati...

BACKGROUND: delirium is a frequent neuropsychiatric syndrome affecting medical and surgical elderly patients. Cholinergic dysfunction has been implicated in delirium pathophysiology and plasmatic acetylcholinesterase (AChE) and butyrylcholinesterase (BuChE) activities are suppressed in patients with delirium. In this cohort study, we investigated whether these changes emerge during delirium or whether they are ...