10 results on '"Natashia Benzian-Olsson"'
Search Results
2. Single-cell analysis implicates T
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Daniel, McCluskey, Natashia, Benzian-Olsson, Satveer K, Mahil, Niina Karoliina, Hassi, Christian T, Wohnhaas, A David, Burden, Christopher E M, Griffiths, John R, Ingram, Nick J, Levell, Richard, Parslew, Andrew E, Pink, Nick J, Reynolds, Richard B, Warren, Sudha, Visvanathan, Patrick, Baum, Jonathan N, Barker, Catherine H, Smith, and Francesca, Capon
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Biological Products ,Skin Diseases, Vesiculobullous ,Cell Plasticity ,Chronic Disease ,Leukocytes, Mononuclear ,Quality of Life ,Humans ,Psoriasis ,Single-Cell Analysis - Abstract
Palmoplantar pustulosis (PPP) is a severe inflammatory skin disorder characterized by eruptions of painful, neutrophil-filled pustules on the palms and soles. Although PPP has a profound effect on quality of life, it remains poorly understood and notoriously difficult to treat.We sought to investigate the immune pathways that underlie the pathogenesis of PPP.We applied bulk and single-cell RNA sequencing (RNA-Seq) methods to the analysis of skin biopsy samples and peripheral blood mononuclear cells. We validated our results by flow cytometry and immune fluorescence microscopy RESULTS: Bulk RNA-Seq of patient skin detected an unexpected signature of T-cell activation, with a significant overexpression of several TPPP is associated with complex T-cell activation patterns and may explain why biologic drugs that target individual T helper cell populations have shown limited therapeutic efficacy.
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- 2021
3. Association of Clinical and Demographic Factors With the Severity of Palmoplantar Pustulosis
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Hywel L Cooper, Kaspar Torz, Jonathan Barker, Zsuzsa Bata-Csorgo, Tejus Dasandi, Charlotte Chaloner, Helen J. Lachmann, R Parslew, Natashia Benzian-Olsson, Plum study team, H. McAteer, Sulev Kõks, F. Meynell, Richard B. Warren, Victoria Cornelius, Prakash Patel, Shyamal Wahie, Külli Kingo, Catherine H. Smith, Christopher E.M. Griffiths, Adrian Tanew, Andrew Wright, Alexander A. Navarini, Andrew Pink, Ulrich Mrowietz, Suzie Cro, A. David Burden, Riccardo G. Borroni, Francesca Capon, Nick J. Reynolds, Hannes Trattner, Nick Dand, and National Institute for Health Research
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Male ,Palmoplantar pustulosis ,medicine.medical_treatment ,Smoking Prevention ,Comorbidity ,Severity of Illness Index ,030207 dermatology & venereal diseases ,0302 clinical medicine ,Quality of life ,Interquartile range ,Risk Factors ,Prevalence ,Age of Onset ,Original Investigation ,Smokers ,Smoking ,Middle Aged ,ERASPEN consortium and the APRICOT and PLUM study team ,030220 oncology & carcinogenesis ,Cohort ,Female ,Life Sciences & Biomedicine ,Comments ,Adult ,medicine.medical_specialty ,Dermatology ,03 medical and health sciences ,Sex Factors ,Internal medicine ,Psoriasis ,Severity of illness ,medicine ,Online First ,Humans ,1112 Oncology and Carcinogenesis ,Science & Technology ,business.industry ,Research ,1103 Clinical Sciences ,Non-Smokers ,medicine.disease ,Featured ,LIFE ,Cross-Sectional Studies ,Quality of Life ,Smoking cessation ,Age of onset ,business ,Ex-Smokers - Abstract
Key Points Question Are clinical and demographic factors associated with the severity of palmoplantar pustulosis? Findings In a cross-sectional study of 203 patients in the UK, the Palmoplantar Pustulosis Psoriasis Area Severity Index score was significantly higher in women compared with men and in current smokers vs former and never smokers. Both of these findings were replicated in an independently ascertained, Northern European cohort including 159 patients. Meaning The findings of this study suggest that smoking cessation interventions may be beneficial in patients with palmoplantar pustulosis and should be investigated in clinical studies., Importance Although palmoplantar pustulosis (PPP) can significantly impact quality of life, the factors underlying disease severity have not been studied. Objective To examine the factors associated with PPP severity. Design, Setting, and Participants An observational, cross-sectional study of 2 cohorts was conducted. A UK data set including 203 patients was obtained through the Anakinra in Pustular Psoriasis, Response in a Controlled Trial (2016-2019) and its sister research study Pustular Psoriasis, Elucidating Underlying Mechanisms (2016-2020). A Northern European cohort including 193 patients was independently ascertained by the European Rare and Severe Psoriasis Expert Network (2014-2017). Patients had been recruited in secondary or tertiary dermatology referral centers. All patients were of European descent. The PPP diagnosis was established by dermatologists, based on clinical examination and/or published consensus criteria. The present study was conducted from October 1, 2014, to March 15, 2020. Main Outcomes and Measures Demographic characteristics, comorbidities, smoking status, Palmoplantar Pustulosis Psoriasis Area Severity Index (PPPASI), measuring severity from 0 (no sign of disease) to 72 (very severe disease), or Physician Global Assessment (PGA), measuring severity as 0 (clear), 1 (almost clear), 2 (mild), 3 (moderate), and 4 (severe). Results Among the 203 UK patients (43 men [21%], 160 women [79%]; median age at onset, 48 [interquartile range (IQR), 38-59] years), the PPPASI was inversely correlated with age of onset (r = −0.18, P = .01). Similarly, in the 159 Northern European patients who were eligible for inclusion in this analysis (25 men [16%], 134 women [84%]; median age at onset, 45 [IQR, 34-53.3] years), the median age at onset was lower in individuals with a moderate to severe PGA score (41 years [IQR, 30.5-52 years]) compared with those with a clear to mild PGA score (46.5 years [IQR, 35-55 years]) (P = .04). In the UK sample, the median PPPASI score was higher in women (9.6 [IQR, 3.0-16.2]) vs men (4.0 [IQR, 1.0-11.7]) (P = .01). Likewise, moderate to severe PPP was more prevalent among Northern European women (57 of 134 [43%]) compared with men (5 of 25 [20%]) (P = .03). In the UK cohort, the median PPPASI score was increased in current smokers (10.7 [IQR, 4.2-17.5]) compared with former smokers (7 [IQR, 2.0-14.4]) and nonsmokers (2.2 [IQR, 1-6]) (P = .003). Comparable differences were observed in the Northern European data set, as the prevalence of moderate to severe PPP was higher in former and current smokers (51 of 130 [39%]) compared with nonsmokers (6 of 24 [25%]) (P = .14). Conclusions and Relevance The findings of this study suggest that PPP severity is associated with early-onset disease, female sex, and smoking status. Thus, smoking cessation intervention might be beneficial., This cross-sectional study examines factors that may contribute to the severity of symptoms in patients with palmoplantar pustulosis.
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- 2020
4. Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease
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Richard B. Warren, Charlotte Chaloner, A. David Burden, Jonathan Barker, Marta Vergnano, Shyamal Wahie, Satveer K. Mahil, Patrick Baum, Andrew Wright, Siew Eng Choon, K. Grys, Hywel L Cooper, Plum study team, Catherine H. Smith, Ulrike Hüffmeier, Sudha Visvanathan, Francesca Capon, Nick J. Reynolds, Ines A. Barbosa, Natashia Benzian-Olsson, and Suzannah August
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education.field_of_study ,Myeloperoxidase deficiency ,biology ,business.industry ,Population ,medicine.disease ,Neutrophilia ,Myeloperoxidase ,Genotype ,Immunology ,Generalized pustular psoriasis ,biology.protein ,Medicine ,Allele ,medicine.symptom ,business ,education ,Neutrophil homeostasis - Abstract
The identification of disease alleles underlying human autoinflammatory diseases can provide important insights into the mechanisms that maintain neutrophil homeostasis. Here, we focused on generalized pustular psoriasis (GPP), a potentially life-threatening disorder presenting with cutaneous and systemic neutrophilia. Following the whole exome sequencing of 19 unrelated cases, we identified one affected individual harbouring a homozygous splice-site mutation (c.2031-2A>C) in MPO. The same homozygous change was subsequently identified in a further subject suffering from acral pustular psoriasis, a disease phenotypically related to GPP.MPO encodes myeloperoxidase, an essential component of neutrophil azurophil granules. Of interest, the c.2031-2A>C allele was previously described as a genetic determinant of myeloperoxidase deficiency (MPOD), a condition which can causes recurrent infections. Here, a systematic literature review identified four individuals suffering from MPOD and pustular skin disease, further strengthening the link between MPO and pustular inflammation.A subsequent analysis of the UK Biobank cohort demonstrated that the c.2031-2A>C allele was associated with increased neutrophil abundance in the general population (P=5.1×10−6). The same applied to three further MPOD mutations for which genotype data was available, with two alleles generating p-values −10. Finally, treatment of healthy neutrophils with an MPO inhibitor reduced cell apoptosis, highlighting a mechanism whereby MPO mutations affect granulocyte numbers.These findings identify MPO mutations as genetic determinants of pustular skin disease and neutrophil abundance. Given the recent interest in the development of MPO antagonists for the treatment of neurodegenerative disease, our results also suggest that the pro-inflammatory effects of these agents should be closely monitored.
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- 2020
5. 069 Multi-omic analyses highlight key molecular pathways in dystrophic epidermolysis bullosa pruriginosa
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Konstantina Dimitrakopoulou, Jemima E. Mellerio, Alyson Guy, D. Cozzetto, Mansoor Saqi, Maria Papanikolaou, L. Lu, Alexandros Onoufriadis, Natashia Benzian-Olsson, and John A. McGrath
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DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA ,Cell Biology ,Dermatology ,Computational biology ,Biology ,Molecular Biology ,Biochemistry - Published
- 2021
6. JUMPING TO CONCLUSIONS AND FACIAL EMOTION RECOGNITION IMPAIRMENT IN FIRST EPISODE PSYCHOSIS ACROSS EUROPE
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Giada Tripoli, Diego Quattrone, Charlotte Gayer-Anderson, Victoria Rodriguez, Natashia Benzian-Olsson, Laura Ferraro, Caterina La Cascia, Crocettarachele Sartorio, Lucia Sideli, Fabio Seminerio, Daniele La Barbera, Craig Morgan, Pak Sham, Marta Di Forti, Robin Murray, and Giada Tripoli, Diego Quattrone, Charlotte Gayer-Anderson, Victoria Rodriguez, Natashia Benzian-Olsson, Laura Ferraro, Caterina La Cascia, Crocettarachele Sartorio, Lucia Sideli, Fabio Seminerio, Daniele La Barbera, Craig Morgan, Pak Sham, Marta Di Forti, Robin Murray
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Settore M-PSI/08 - Psicologia Clinica ,cognition, psychosis ,Settore MED/48 -Scienze Infermierist. e Tecn. Neuro-Psichiatriche e Riabilitat ,Settore MED/25 - Psichiatria - Abstract
Background Jumping to conclusions (JTC) is a well-established reasoning and data gathering bias found in patients with psychosis even at illness onset (First Episode Psychosis, FEP). Preliminary work in this field focused primarily on the association with delusions, although jumping to conclusions has also been found in non-deluded schizophrenia patients after remission, and in individual with at risk mental state. Moreover, psychotic patients tend to show impairments in social cognition, struggling in identifying, processing and interpreting social clues. Deficits in facial emotion recognition (FER) – a key component of the construct – represent a well-replicated finding in schizophrenia. Furthermore, deficits in global facial affect recognition have been found in FEP with the same severity as at further stages, especially for anger recognition. The present study aims to measure JTC and FER bias in a sample of FEP recruited across 5 European countries, compared with healthy controls. Methods Data on JTC (Beads task 60:40), FER (Degraded Facial Recognition task – DFAR) and socio-demographics have been analysed in a sample of 643 FEP and 1019 population controls recruited as part as the EU-GEI study across UK, Netherlands, France, Spain, and Italy. IQ scores were used to exclude cases and controls with current IQ
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- 2018
7. Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease
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Marta Vergnano, Maja Mockenhaupt, Natashia Benzian-Olsson, Maren Paulmann, Katarzyna Grys, Satveer K. Mahil, Charlotte Chaloner, Ines A. Barbosa, Suzannah August, A. David Burden, Siew-Eng Choon, Hywel Cooper, Alex A. Navarini, Nick J. Reynolds, Shyamal Wahie, Richard B. Warren, Andrew Wright, Ulrike Huffmeier, Patrick Baum, Sudha Visvanathan, Jonathan N. Barker, Catherine H. Smith, Francesca Capon, Thamir Abraham, Mahmud Ali, David Baudry, Anthony Bewley, Christopher E.M. Griffiths, John Ingram, Susan Kelly, Mohsen Korshid, Effie Ladoyanni, John McKenna, Freya Meynell, Richard Parslew, Prakash Patel, Angela Pushparajah, Nick Reynolds, Catherine Smith, and Richard Warren
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0301 basic medicine ,Neutrophils ,MPO ,Disease ,acute generalized exanthematous pustulosis ,0302 clinical medicine ,Loss of Function Mutation ,Medicine ,Genetics (clinical) ,Skin ,Aged, 80 and over ,education.field_of_study ,biology ,Neurodegenerative Diseases ,AGEP ,Acute generalized exanthematous pustulosis ,myeloperoxidase ,Phenotype ,030220 oncology & carcinogenesis ,Myeloperoxidase ,Female ,generalized pustular psoriasis ,medicine.symptom ,4-Aminobenzoic Acid ,myeloperoxidase deficiency ,Adult ,Genotype ,Population ,Skin Diseases ,Cell Line ,03 medical and health sciences ,Report ,Genetics ,Humans ,Psoriasis ,Allele ,education ,Neutrophil homeostasis ,Loss function ,Aged ,Peroxidase ,Myeloperoxidase deficiency ,business.industry ,Correction ,medicine.disease ,Neutrophilia ,Human genetics ,030104 developmental biology ,Immunology ,Generalized pustular psoriasis ,biology.protein ,GPP ,business - Abstract
The identification of disease alleles underlying human autoinflammatory diseases can provide important insights into the mechanisms that maintain neutrophil homeostasis. Here, we focused our attention on generalized pustular psoriasis (GPP), a potentially life-threatening disorder presenting with cutaneous and systemic neutrophilia. Following the whole-exome sequencing of 19 unrelated affected individuals, we identified a subject harboring a homozygous splice-site mutation (c.2031-2A>C) in MPO. This encodes myeloperoxidase, an essential component of neutrophil azurophil granules. MPO screening in conditions phenotypically related to GPP uncovered further disease alleles in one subject with acral pustular psoriasis (c.2031-2A>C;c.2031-2A>C) and in two individuals with acute generalized exanthematous pustulosis (c.1705C>T;c.2031-2A>C and c.1552_1565del;c.1552_1565del). A subsequent analysis of UK Biobank data demonstrated that the c.2031-2A>C and c.1705C>T (p.Arg569Trp) disease alleles were also associated with increased neutrophil abundance in the general population (p = 5.1 × 10-6 and p = 3.6 × 10-5, respectively). The same applied to three further deleterious variants that had been genotyped in the cohort, with two alleles (c.995C>T [p.Ala332Val] and c.752T>C [p.Met251Thr]) yielding p values < 10-10. Finally, treatment of healthy neutrophils with an MPO inhibitor (4-Aminobenzoic acid hydrazide) increased cell viability and delayed apoptosis, highlighting a mechanism whereby MPO mutations affect granulocyte numbers. These findings identify MPO as a genetic determinant of pustular skin disease and neutrophil abundance. Given the recent interest in the development of MPO antagonists for the treatment of neurodegenerative disease, our results also suggest that the pro-inflammatory effects of these agents should be closely monitored.
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- 2021
8. S77. JUMPING TO CONCLUSIONS AND FACIAL EMOTION RECOGNITION IMPAIRMENT IN FIRST EPISODE PSYCHOSIS ACROSS EUROPE
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Natashia Benzian-Olsson, Charlotte Gayer-Anderson, Caterina La Cascia, Lucia Sideli, Giada Tripoli, Craig Morgan, Laura Ferraro, Robin M. Murray, Pak C. Sham, Victoria Rodriguez, F. Seminerio, Crocettarachele Sartorio, Diego Quattrone, Marta Di Forti, and Daniele La Barbera
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Poster Session III ,Psychosis ,education.field_of_study ,business.industry ,media_common.quotation_subject ,Population ,Cognition ,Anger ,medicine.disease ,Logistic regression ,Abstracts ,Psychiatry and Mental health ,Social cognition ,Schizophrenia ,Jumping to conclusions ,Medicine ,business ,education ,media_common ,Clinical psychology - Abstract
Background Jumping to conclusions (JTC) is a well-established reasoning and data gathering bias found in patients with psychosis even at illness onset (First Episode Psychosis, FEP). Preliminary work in this field focused primarily on the association with delusions, although jumping to conclusions has also been found in non-deluded schizophrenia patients after remission, and in individual with at risk mental state. Moreover, psychotic patients tend to show impairments in social cognition, struggling in identifying, processing and interpreting social clues. Deficits in facial emotion recognition (FER) – a key component of the construct – represent a well-replicated finding in schizophrenia. Furthermore, deficits in global facial affect recognition have been found in FEP with the same severity as at further stages, especially for anger recognition. The present study aims to measure JTC and FER bias in a sample of FEP recruited across 5 European countries, compared with healthy controls. Methods Data on JTC (Beads task 60:40), FER (Degraded Facial Recognition task – DFAR) and socio-demographics have been analysed in a sample of 643 FEP and 1019 population controls recruited as part as the EU-GEI study across UK, Netherlands, France, Spain, and Italy. IQ scores were used to exclude cases and controls with current IQ
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- 2018
9. 150 Sex and Smoke-Related Differences in the Severity of Palmoplantar Pustulosis
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Charlotte Chaloner, Francesca Capon, Nick J. Reynolds, J. Barker, Nick Dand, Richard B. Warren, Catherine H. Smith, F. Meynell, and Natashia Benzian-Olsson
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Smoke ,medicine.medical_specialty ,Palmoplantar pustulosis ,business.industry ,Medicine ,Cell Biology ,Dermatology ,business ,Molecular Biology ,Biochemistry - Published
- 2019
10. 281 CARD14 variants are associated with palmar plantar pustulosis
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A. Niaouris, S. Haddad, A. Pushpa-Rajah, Sudha Visvanathan, Catherine H. Smith, Natashia Benzian-Olsson, Patrick Baum, Francesca Capon, and Jonathan N.W.N. Barker
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medicine.medical_specialty ,business.industry ,medicine ,Cell Biology ,Dermatology ,medicine.symptom ,business ,Pustulosis ,Molecular Biology ,Biochemistry - Published
- 2019
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