Methotrexate improves the health-related quality of life of children with juvenile idiopathic arthritis.

Objectives: To examine the change in health-related quality of life (HRQOL) and its determinants in children with juvenile idiopathic arthritis (JIA) treated with methotrexate (MTX).

Methods: Patients were extracted from the PRINTO clinical trial which aimed to evaluate the efficacy and safety profile of MTX administered in standard, intermediate or higher doses (10, 15 and 30 mg/m(2)/week respectively). Children with polyarticular-course JIA, who were less than 18 years and had a complete HRQOL assessment were included.

A randomized, placebo-controlled trial of infliximab plus methotrexate for the treatment of polyarticular-course juvenile rheumatoid arthritis.

Objective: To evaluate the safety and efficacy of infliximab in the treatment of juvenile rheumatoid arthritis (JRA).

Methods: This was an international, multicenter, randomized, placebo-controlled, double-blind study. One hundred twenty-two children with persistent polyarticular JRA despite prior methotrexate (MTX) therapy were randomized to receive infliximab or placebo for 14 weeks, after which all children received infliximab through week 44.

Temporomandibular joint arthritis in juvenile idiopathic arthritis: prevalence, clinical and radiological signs, and relation to dentofacial morphology.

Objective: To perform a prospective, comprehensive, clinical, and radiological evaluation of temporomandibular joint (TMJ) involvement and its influence on craniofacial growth, in a cohort of patients with juvenile idiopathic arthritis (JIA), representing all JIA subtypes.

Methods: Clinical rheumatologic and orthodontic evaluations were performed in 100 patients with JIA [12 systemic arthritis, 24 rheumatoid factor (RF)-negative polyarthritis, 1 RF-positive polyarthritis, 39 oligoarthritis, 22 enthesitis-related arthritis, 2 psoriatic arthritis]. An orthopantomogram and lateral cephalogram were performed in 46 patients.

Intravenous immunoglobulins in refractory childhood-onset epilepsy: effects on seizure frequency, EEG activity, and cerebrospinal fluid cytokine profile.

Purpose: Several studies have reported favorable effects of intravenous immunoglobulins (IVIG) in refractory epilepsy. Evidence substantiating an immunomodulatory action is scarce. In an open-label study, we prospectively investigated the effect of IVIG on clinical, EEG and serum/CSF immunological parameters in patients with refractory childhood-onset epilepsy.

[Risk factors for structural chromosomal abnormality in > or = 2 miscarriages, as an instrument for selective karyotyping].

Objective: To identify additional risk factors and the corresponding probability of carrying a chromosome abnormality in couples with two or more miscarriages.

Design: Nested case-control study.

Method: In 6 centres for clinical genetics in the Netherlands, data were collected from couples referred for karyotyping after 2 2 miscarriages from 1992-2000.

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

Here, we report a patient with a novel brachydactyly-syndactyly syndrome and a de novo translocation 46,XY,t(4;6)(q12;p23). We mapped the breakpoint and identified genes in the breakpoint region. One of the genes on chromosome 6, the membrane-associated O-acetyl transferase gene 1 (MBOAT1), was disrupted by the breakpoint.

Imatinib for the treatment of patients with unresectable or metastatic malignant KIT-positive gastrointestinal stromal tumours: an open-label Belgian trial.

Background: Gastrointestinal stromal tumours (GIST) are the most common mesenchymal tumours of the gastrointestinal tract. They are defined immunohistologically as KIT positive tumours. The only effective treatment for malignant GIST was surgery until 2000.

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.

Williams Syndrome (WS, [MIM 194050]) is a disorder caused by a hemizygous deletion of 25-30 genes on chromosome 7q11.23. Several of these genes including those encoding cytoplasmic linker protein-115 (CYLN2) and general transcription factors (GTF2I and GTF2IRD1) are expressed in the brain and may contribute to the distinct neurological and cognitive deficits in WS patients.

Pediatric granulomatous arthritis: an international registry.

Objective: Blau syndrome and its sporadic counterpart, early-onset sarcoidosis, share an identical phenotype featuring the classic triad of arthritis, dermatitis, and uveitis and are associated with mutations of CARD15 in 50-90% of cases. We chose the term "pediatric granulomatous arthritis" to refer to both. An international registry was established in the spring of 2005 to define the phenotype spectrum and establish the mutation frequency and variants.

Visual outcome in children with juvenile idiopathic arthritis related uveitis.

Purpose: To determine the incidence and characteristics of uveitis in a cohort of patients with juvenile idiopathic arthritis (JIA) as well as the nature of treatment and the risk factors for visual loss.

Patients And Methods: Retrospective review of 52 patients with JIA, screened for uveitis between 1995 and 2005. The first group, presenting with symptoms of arthritis and uveitis, was diagnosed at screening.

Congenital diaphragmatic hernia associated with duplication of 11q23-qter.

Congenital diaphragmatic hernia (CDH) is a relatively common birth defect with a high mortality. Although little is known about its etiology, there is increasing evidence for a strong genetic contribution. Both numerical and structural chromosomal abnormalities have been described in patients with CDH.

Bilateral acute retinal necrosis in a 12-year-old girl.

Acute retinal necrosis (ARN) is a severe ocular syndrome consisting of a moderate-to-severe anterior uveitis, vasculitis, and vaso-occlusive retinal necrosis. It can occur in healthy individuals at any age, but reports of this condition in children are rare.

[Fear of falling in a fall clinic for geriatric patients: a pilot study].

Objective: In this pilot study we want to determine how often fear of falling occurs in geriatric patients visiting a fall clinic and to study the characteristics of fear of falling and its consequences.

Design: Retrospective study of patient's records.

Method: A random sample of 100 medical records of geriatric patients of the fall clinic of the Jeroen Bosch Ziekenhuis in Den Bosch was systematical examined.

Localized scleroderma in childhood is not just a skin disease.

Objective: Juvenile localized scleroderma is usually considered a disease that is confined to the skin and subcutaneous tissue. We studied the prevalence and clinical features of extracutaneous manifestations in a large cohort of children with juvenile localized scleroderma.

Methods: Data from a multinational study on juvenile scleroderma was used for this in-depth study.

[Not Available].

Fear of falling in a fall clinic for geriatric patients: a pilot study Objective. In this pilot study we wantto determine how often fear of falling occurs in geriatric patients visiting a fall clinic and to study the characteristics of fear of falling and its consequences.Design.

Selective chromosome analysis in couples with two or more miscarriages: case-control study.

Objective: To identify additional factors, such as maternal age or factors related to previous reproductive outcome or family history, and the corresponding probability of carrying a chromosome abnormality in couples with two or more miscarriages.

Design: Nested case-control study.

Setting: Six centres for clinical genetics in the Netherlands.

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

Background: Saethre-Chotzen syndrome is a craniosynostosis syndrome further characterized by distinctive facial and limb abnormalities. It shows complete penetrance and variable expressivity and has been linked to the TWIST gene on chromosome 7p21; more than 80 different intragenic mutations and, recently, large deletions have been detected in Saethre-Chotzen patients. The aim of this study was to genetically and phenotypically characterize patients with a clinical diagnosis of Saethre-Chotzen syndrome.

The EuroSCORE as predictor for prolonged hospital and intensive care stay after cardiac surgery?

Objective: Validation of the EuroSCORE as predictor for a prolonged hospital and intensive care stay after CABG vs. institution-specific scoring systems.

Methods: For the evaluation of a prolonged hospital stay, 3359 patients were included in the analysis of EuroSCORE vs.

Clinical symptoms and complications of pars planitis in childhood.

Unlabelled: Pars planitis is the idiopathic form of intermediate uveitis; it most commonly affects persons between 5 and 40 years of age. In childhood, the disease is largely asymptomatic until in a well advanced stage with markedly reduced vision. Lack of early diagnosis and treatment may lead to permanent visual loss and amblyopia.

Severe carpal tunnel syndrome in a patient with juvenile idiopathic arthritis due to proximal migration of hypertrophic lumbrical muscles.

We report a new case of pediatric carpal tunnel syndrome in a patient with juvenile rheumatoid arthritis. Symptoms were mainly motor weakness and severe atrophy of the thenar.

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple organs and tissues. TSC is caused by mutations in either the TSC1 or TSC2 gene. We searched for mutations in both genes in a cohort of 490 patients diagnosed with or suspected of having TSC using a combination of denaturing gradient gel electrophoresis, single-strand conformational polymorphism, direct sequencing, fluorescent in situ hybridisation and Southern blotting.