Functionally impaired RPL8 variants associated with Diamond‐Blackfan anemia and a Diamond‐Blackfan anemia‐like phenotype

2021 ◽  
Author(s):  
Simon Lebaron ◽  
Marie‐Françoise O’Donohue ◽  
Scott C. Smith ◽  
Kendra L. Engleman ◽  
Jane Juusola ◽  
...  
Keyword(s):  
Diamond Blackfan Anemia ◽  
Functionally Impaired

Partial hypopituitarism and primary hypotiroidism associated with Diamond-Blackfan Anemia

2019 ◽  
Author(s):  
Rosa Gomez Almendros ◽  
Ignacio Nocete Aragon ◽  
Lucia Prieto Coca ◽  
Maria Soledad Segurado Miravalles ◽  
Laura Kanaan Kanaan ◽  
...  
Keyword(s):  
Diamond Blackfan Anemia

scholarly journals Comparative Evaluation on Impacts of Fibronectin, Heparin–Chitosan, and Albumin Coating of Bacterial Nanocellulose Small-Diameter Vascular Grafts on Endothelialization In Vitro

Nanomaterials ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1952
Author(s):  
Max Wacker ◽  
Jan Riedel ◽  
Heike Walles ◽  
Maximilian Scherner ◽  
George Awad ◽  
...  
Keyword(s):  
Low Density Lipoprotein ◽  
Vascular Grafts ◽  
Small Diameter ◽  
Density Lipoprotein ◽  
Human Albumin ◽  
Water Soluble ◽  
Bacterial Nanocellulose ◽  
Functionally Impaired ◽  
Small Diameter Vascular Grafts

In this study, we contrast the impacts of surface coating bacterial nanocellulose small-diameter vascular grafts (BNC-SDVGs) with human albumin, fibronectin, or heparin–chitosan upon endothelialization with human saphenous vein endothelial cells (VEC) or endothelial progenitor cells (EPC) in vitro. In one scenario, coated grafts were cut into 2D circular patches for static colonization of a defined inner surface area; in another scenario, they were mounted on a customized bioreactor and subsequently perfused for cell seeding. We evaluated the colonization by emerging metabolic activity and the preservation of endothelial functionality by water soluble tetrazolium salts (WST-1), acetylated low-density lipoprotein (AcLDL) uptake assays, and immune fluorescence staining. Uncoated BNC scaffolds served as controls. The fibronectin coating significantly promoted adhesion and growth of VECs and EPCs, while albumin only promoted adhesion of VECs, but here, the cells were functionally impaired as indicated by missing AcLDL uptake. The heparin–chitosan coating led to significantly improved adhesion of EPCs, but not VECs. In summary, both fibronectin and heparin–chitosan coatings could beneficially impact the endothelialization of BNC-SDVGs and might therefore represent promising approaches to help improve the longevity and reduce the thrombogenicity of BNC-SDVGs in the future.

scholarly journals Determinants of patient-reported outcome trajectories and symptomatic recovery in Improving Access to Psychological Therapies (IAPT) services

2021 ◽  
pp. 1-10
Author(s):  
Jan Stochl ◽  
Emma Soneson ◽  
Freya Stuart ◽  
Jessica Fritz ◽  
Annabel E. L. Walsh ◽  
...  
Keyword(s):  
Symptom Severity ◽  
Severe Depression ◽  
Anxiety Symptoms ◽  
Rate Of Change ◽  
Depression And Anxiety ◽  
Rapid Improvement ◽  
Baseline Severity ◽  
Psychological Therapies ◽  
Patient Reported ◽  
Functionally Impaired

Abstract Background Despite evidence for the general effectiveness of psychological therapies, there exists substantial heterogeneity in patient outcomes. We aimed to identify factors associated with baseline severity of depression and anxiety symptoms, rate of symptomatic change over the course of therapy, and symptomatic recovery in a primary mental health care setting. Methods Using data from a service evaluation involving 35 527 patients in England's psychological and wellbeing [Improving Access to Psychological Therapies (IAPT)] services, we applied latent growth models to explore which routinely-collected sociodemographic, clinical, and therapeutic variables were associated with baseline symptom severity and rate of symptomatic change. We used a multilevel logit model to determine variables associated with symptomatic recovery. Results Being female, younger, more functionally impaired, and more socioeconomically disadvantaged was associated with higher baseline severity of both depression and anxiety symptoms. Being older, less functionally impaired, and having more severe baseline symptomatology was associated with more rapid improvement of both depression and anxiety symptoms (male gender and greater socioeconomic disadvantage were further associated with rate of change for depression only). Therapy intensity and appointment frequency seemed to have no correlation with rate of symptomatic improvement. Patients with lower baseline symptom severity, less functional impairment, and older age had a greater likelihood of achieving symptomatic recovery (as defined by IAPT criteria). Conclusions We must continue to investigate how best to tailor psychotherapeutic interventions to fit patients’ needs. Patients who begin therapy with more severe depression and/or anxiety symptoms and poorer functioning merit special attention, as these characteristics may negatively impact recovery.

scholarly journals MAIT cells (TCR7.2+CD161++CD8+) are functionally impaired during chronic SHIV infection

2020 ◽  
Vol 101 ◽  
pp. 288
Author(s):  
A. Murugesan ◽  
C. Ibegbu ◽  
T. Styles ◽  
S. Hicks ◽  
P. Reddy ◽  
...  
Keyword(s):  
Mait Cells ◽  
Functionally Impaired ◽  
Shiv Infection

scholarly journals Genetically intact but functionally impaired HIV-1 Env glycoproteins in the T-cell reservoir

2017 ◽  
Vol 3 ◽  
pp. 28-29
Author(s):  
A. Verneuil ◽  
J. Migraine ◽  
F. Mammano ◽  
J.-M. Molina ◽  
S. Gallien ◽  
...  
Keyword(s):  
T Cell ◽  
Functionally Impaired ◽  
Hiv 1
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