Transient left bundle branch block and left ventricular dysfunction in a patient with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome

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Functional Asplenia and Specific Polysaccharide Antibody Deficiency in a Girl with SAVI

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3D stereophotogrammetry in children and adolescents with Scleroderma En Coup De Sabre/Parry-Romberg Syndrome: Description of a novel method for monitoring disease progression

BACKGROUND: The diagnosis of Scleroderma En Coup de Sabre (ECDS)/Parry Romberg Syndrome (PRS) is mainly based on characteristic clinical findings. Methods to objectively monitor the course of the disease in a standardized way are lacking. OBJECTIVES: This descriptive, retrospective, single centre cohort study aims to describe the contribution of 3D photographs in the assessment of the degree of facial asymmetry changes over time in growing children and adolescents with ECDS and PRS. METHODS: Six patients diagnosed with ECDS/PRS, with a follow-up period of at least 24 months and at least three 3D photographs were included. Mirroring these 3D photographs was automatically performed using surface-based matching to generate a colour-coded distance map, illustrating the inter-surface distance and thereby asymmetry between the original and mirrored 3D photographs. The percentage of absolute distances between the original and mirrored 3D photograph were calculated. RESULTS: In two patients, impressive decreases in the percentages of absolute distance levels over time were found, whereas the other patients did not show progression of asymmetry over time. CONCLUSION: This study shows the potential of 3D stereophotogrammetry as an objective tool to measure disease activity over time in patients with ECDS/PRS

Quantitative muscle ultrasound: a potential tool for assessment of disease activity in juvenile dermatomyositis

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Phenotypic variability including Behcet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A > G splice site mutation

Contains fulltext : 214017.pdf (publisher's version ) (Open Access

Gene signature fingerprints stratify SLE patients in groups with similar biological disease profiles: a multicentre longitudinal study

OBJECTIVES: Clinical phenotyping and predicting treatment responses in SLE patients is challenging. Extensive blood transcriptional profiling has identified various gene modules that are promising for stratification of SLE patients. We aimed to translate existing transcriptomic data into simpler gene signatures suitable for daily clinical practice. METHODS: Real-time PCR of multiple genes from the IFN M1.2, IFN M5.12, neutrophil (NPh) and plasma cell (PLC) modules, followed by a principle component analysis, was used to identify indicator genes per gene signature. Gene signatures were measured in longitudinal samples from two childhood-onset SLE cohorts (n = 101 and n = 34, respectively), and associations with clinical features were assessed. Disease activity was measured using Safety of Estrogen in Lupus National Assessment (SELENA)-SLEDAI. Cluster analysis subdivided patients into three mutually exclusive fingerprint-groups termed (1) all-signatures-low, (2) only IFN high (M1.2 and/or M5.12) and (3) high NPh and/or PLC. RESULTS: All gene signatures were significantly associated with disease activity in cross-sectionally collected samples. The PLC-signature showed the highest association with disease activity. Interestingly, in longitudinally collected samples, the PLC-signature was associated with disease activity and showed a decrease over time. When patients were divided into fingerprints, the highest disease activity was observed in the high NPh and/or PLC group. The lowest disease activity was observed in the all-signatures-low group. The same distribution was reproduced in samples from an independent SLE cohort. CONCLUSIONS: The identified gene signatures were associated with disease activity and were indicated to be suitable tools for stratifying SLE patients into groups with similar activated immune pathways that may guide future treatment choices

TRENDS IN PRESCRIPTION OF BIOLOGICS AND OUTCOMES OF JUVENILE IDIOPATHIC ARTHRITIS; RESULTS OF THE DUTCH NATIONAL ARTHRITIS AND BIOLOGICALS IN CHILDREN REGISTER

Transplantation and immunomodulatio

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)

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