Incidence of chronic recurrent multifocal osteomyelitis in children and adolescents in the UK and Republic of Ireland.

Objectives: Chronic Recurrent Multifocal Osteomyelitis (CRMO), also known as chronic nonbacterial osteomyelitis (CNO), is a rare autoinflammatory condition affecting the bones in children and teenagers. The actual incidence of CRMO remains uncertain. The objective of this study is to identify the incidence of CRMO in children and young people under the age of 16 years in the United Kingdom (UK) and Republic of Ireland (ROI).

HLA-B*27 is associated with CNO in a European cohort.

Objectives: To determine the influence of HLA-B27 positivity on risk of developing chronic nonbacterial osteomyelitis (CNO).

Methods: HLA-B*27 genotype was assessed in 3 European CNO populations and compared with local control populations (572 cases, 33,256 controls). Regional or whole-body MRI was performed at diagnosis and follow-up in all cases which reduces the risk of disease misclassification.

Prospective epidemiological study of juvenile-onset systemic lupus erythematosus in the UK and Republic of Ireland.

Objectives: The primary objective was to define the incidence of JSLE in children <16 years of age in the UK and Republic of Ireland (ROI). The secondary objective was to describe presenting features, classification criteria, initial management and disease damage in newly presenting JSLE patients.

Methods: A prospective JSLE epidemiological study was undertaken between September 2017 and September 2019 with support of the British Paediatric Surveillance Unit and other professional groups involved in diagnosis and management of JSLE patients.

Variability in phenotype and response to treatment in chronic nonbacterial osteomyelitis; the Irish experience of a national cohort.

Background: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory disease affecting bone with considerable phenotypic heterogeneity and variable association with other autoinflammatory conditions. Disease pathogenesis is incompletely understood, and treatment protocols vary between physicians with no clinical treatment guidelines available prior to 2017. Although CNO was previously considered benign, it is now clear that long-term sequelae do occur.

Emerging Role of the NLRP3 Inflammasome and Interleukin-1β in Neonates.

Infection and persistent inflammation have a prominent role in the pathogenesis of brain injury and cerebral palsy, as well as other conditions associated with prematurity such as bronchopulmonary dysplasia. The NLRP3 inflammasome-interleukin (IL)-1β pathway has been extensively studied in adults and pre-clinical models, improving our understanding of innate immunity and offering an attractive therapeutic target that is already contributing to clinical management in many auto-inflammatory disorders. IL-1 blockade has transformed the course and outcome of conditions such as chronic infantile neurological, cutaneous, articular (CINCA/NOMID) syndrome.

A Novel RELA Truncating Mutation in a Familial Behçet's Disease-like Mucocutaneous Ulcerative Condition.

Objective: Monogenic Behçet's disease (BD)-like conditions are increasingly recognized and to date have been found to predominantly involve loss-of-function variants in TNFAIP3. This study was undertaken to identify genetic and pathobiologic mechanisms associated with a BD-like mucocutaneous ulcerative syndrome and neuromyelitis optica (NMO) occurring in 3 generations of an Irish family (n = 5 cases and 5 familial controls).

Methods: Whole-exome sequencing was used to identify potential pathogenic variants in affected family members and determine segregation between affected and unaffected individuals.

Treatment-recalcitrant laryngeal sarcoidosis responsive to sirolimus.

A 15-year-old girl presented with gradual-onset dysphonia and dysphagia. Laryngoscopy revealed significant supraglottic airway obstruction with swelling of both the epiglottis and arytenoids. After emergency tracheostomy, biopsy of the epiglottis revealed lymphoid hyperplasia with focal non-necrotising granulomata, leading to a presumed diagnosis of laryngeal sarcoidosis.

Arthropathy of Down syndrome: an under-diagnosed inflammatory joint disease that warrants a name change.

Unlabelled: There is an increased incidence and prevalence of arthropathy in children with Down syndrome. However, it is rarely reported or recognised at onset, and remains under-diagnosed. Children with arthropathy of Down syndrome (A-DS) are presenting with significant joint damage and disability at diagnosis.

Musculoskeletal anomalies in children with Down syndrome: an observational study.

Background: Musculoskeletal complications of Down syndrome (DS) are common but infrequently reported. The combination of ligamentous laxity and low muscle tone contributes to increased risk of a number of musculoskeletal disorders and a delay in acquisition of motor milestones. The primary aim of this study was to describe musculoskeletal anomalies reported in a national cohort of children with DS.

Magnetic resonance imaging identifies features in clinically unaffected knees predicting extension of arthritis in children with monoarthritis.

Objective: A proportion of children with oligoarthritis have an aggressive disease course. Identifying these children at presentation would help guide prognosis and management. We examined if magnetic resonance imaging (MRI) of clinically unaffected joints is more sensitive than clinical assessment in identifying those at risk of developing arthritis in more than one joint.

Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome.

We report a female infant of 42 weeks gestation with a left sided diaphragmatic hernia and a hypoplastic left heart. A true double vagina, absent uterus and abnormal male gonads were found in the presence of normal external female genitalia. Conventional G band karyotyping of skin samples revealed a normal male karyotype.