[Severe form of hereditary neuralgic amyotrophy without SEPT9 gene mutation].

Introduction: Hereditary neuralgic amyotrophy (HNA) is a rare condition characterized by recurrent episodes of painful paralysis preferentially affecting the brachial plexus. It is often linked to a mutation in the SEPT9 gene.

Case Report: A 69-year-old female patient experienced a dozen episodes of severe neurological deficit mainly affecting the brachial plexus and the phrenic and recurrent nerves.

Genetic dissection of Helicobacter pylori AddAB role in homologous recombination.

Helicobacter pylori infects the stomach of about half of the world's human population, frequently causing chronic inflammation at the origin of several gastric pathologies. One of the most remarkable characteristics of the species is its remarkable genomic plasticity in which homologous recombination (HR) plays a critical role. Here, we analyzed the role of the H.

Liver involvement in systemic lupus erythematosus: incidence, clinical course and outcome of lupus hepatitis.

Objectives: The aims of this study were to assess the spectrum of liver disease occurring in systemic lupus erythematosus (SLE), primarily the incidence, clinical course and outcome of lupus hepatitis (LH).

Methods: The records of 283 SLE out-patients referred to our Unit between 1994 and 2008 were reviewed to identify clinical or laboratory evidence of liver involvement. Liver enzyme values were considered abnormal when a sustained increase in serum transaminase levels above the normal value was observed for a period of at least three months or when the increase was confirmed in two consecutive assessments.

Characteristics of joint involvement and relationships with systemic inflammation in systemic sclerosis: results from the EULAR Scleroderma Trial and Research Group (EUSTAR) database.

Objective: To determine the prevalence of and independent factors associated with joint involvement in a large population of patients with systemic sclerosis (SSc).

Methods: This study was cross-sectional, based on data collected on patients included in the European League Against Rheumatism (EULAR) Scleroderma Trials and Research (EUSTAR) registry. We queried this database to extract data regarding global evaluation of patients with SSc and the presence of any clinical articular involvement: synovitis (tender and swollen joints), tendon friction rubs (rubbing sensation detected as the tendon was moved), and joint contracture (stiffness of the joints that decreased their range of motion).

Defective cerebral gamma-aminobutyric acid-A receptor density in patients with systemic lupus erythematosus and central nervous system involvement. An observational study.

Gamma-aminobutyric acid-A (GABA-A) receptors play a crucial role in regulating neuronal excitability and cognitive functions. Single-photon emission computerized tomography (SPECT) analysis of GABA-A receptors binding by (123)I-labelled Iomazenil ((123)I-IMZ) has been applied in some neuropsychiatric disorders to investigate conditions where GABA-A receptor density can be detected in several pathophysiological conditions. In this study we investigate cerebral GABA-A receptor density in a small series of patients with systemic lupus erythematosus (SLE) and cognitive impairment characterized by recurrent, episodic memory loss.

Switching from infliximab or etanercept to adalimumab in resistant or intolerant patients with spondyloarthritis: a 4-year study.

Objective: TNF-alpha antagonists, infliximab (INF), etanercept (ETA) and adalimumab (ADA), have been demonstrated to be effective in controlling symptoms in SpAs. The aim of this study was to investigate the possibility of using ADA as a second or third choice.

Methods: A retrospective study was conducted in patients with SpA treated with TNF-alpha blockers who switched from INF or ETA to ADA, for inefficacy or adverse events.

CD8+ T-cell mediated self-reactivity in HLA-B27 context as a consequence of dual peptide conformation.

HLA-B2709 does not predispose for Ankylosing Spondylitis although it differs from B2705, the most common and AS-associated subtype in different ethnic groups, only for the substitution His116Asp. Therefore, a productive approach to elucidate the molecular mechanisms of the disease could be the comparison of these alleles. B2705 has been shown to display certain self-peptides enriched in basic residues i.

The radiological assessment of axial involvement in psoriatic arthritis: a validation study of the BASRI total and the modified SASSS scoring methods.

Objectives: To assess the validity of the BASRI and m-SASSS scores for the radiological axial involvement in psoriatic arthritis (PsA). Secondary end-points were to report on clinical, functional and radiographic characteristics of axial involvement.

Methods: Inclusion criteria were satisfaction of the CASPAR criteria and the presence of clinical, functional and/or radiological axial involvement.

Identifying and preventing adverse drug events in elderly hospitalised patients: a randomised trial of a program to reduce adverse drug effects.

Objectives: Evaluate the impact of educational intervention in decreasing ADEs in elderly patients in a hospital setting.

Design: Randomised prospective study.

Setting: The study was performed in France in the Paris area, in 16 rehabilitation geriatric centres of APHP (Assistance Publique - Hôpitaux de Paris).

HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia.

Introduction: Ankylosing spondylitis (AS) is a severe, chronic inflammatory disease strongly associated with HLA-B27. The presence of additional HLA risk factors has been suggested by several studies. The aim of the current study is to assess the occurrence of an additional HLA susceptibility locus in the region between HLA-E and HLA-C in the Sardinian population.

Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.

Neonatal hemochromatosis is a heterogeneous disorder of iron metabolism characterized by hepatic failure and marked iron accumulation in liver and extrahepatic tissues. Autosomal recessive transmission is found in most cases. Neonatal hemochromatosis shares cellular features with the adult disease but is clinically and genetically distinct, the causal gene(s) being presently unknown.

Drosophila translational elongation factor-1gamma is modified in response to DOA kinase activity and is essential for cellular viability.

Drosophila translational elongation factor-1gamma (EF1gamma) interacts in the yeast two-hybrid system with DOA, the LAMMER protein kinase of Drosophila. Analysis of mutant EF1gamma alleles reveals that the locus encodes a structurally conserved protein essential for both organismal and cellular survival. Although no genetic interactions were detected in combinations with mutations in EF1alpha, an EF1gamma allele enhanced mutant phenotypes of Doa alleles.

Comparison of four antibodies for immunohistochemical evaluation of epidermal growth factor receptor expression in non-small cell lung cancer.

Agents acting on signalling molecules of growth pathways have emerged as therapeutics for non-small cell lung cancer (NSCLC). Among them are inhibitors of the epidermal growth factor receptor (EGFR). To meet Belgian reimbursement criteria for erlotinib, patients must have an EGFR-positive tumour, defined as at least 10% of cells showing membranous staining on immunohistochemistry.

Successful preoperative localization of a small pancreatic insulinoma by diffusion-weighted MRI.

Context: Insulinoma is the most common functioning endocrine tumor of the pancreas responsible for fasting hypoglycemia resulting from autonomous insulin hypersecretion. Most insulinomas are small and difficult to localize with conventional imaging. We successfully localized a small insulinoma in our patient using diffusion-weighted magnetic resonance imaging before surgery.

Vitamin D deficiency and insufficiency in 2 independent cohorts of patients with systemic sclerosis.

Objective: To investigate 25-OH vitamin D concentrations in 2 independent systemic sclerosis (SSc) populations from France and Italy.

Methods: We studied 156 consecutive SSc patients comparable for demographic characteristics: 90 from Northern France and 66 from Southern Italy. 25-OH vitamin D, intact parathyroid hormone, and serum total calcium and phosphorus were measured in all patients.

Psoriatic arthritis spondylitis radiology index: a modified index for radiologic assessment of axial involvement in psoriatic arthritis.

Objective: To develop and validate a modified index for assessing the radiologic axial involvement in psoriatic arthritis (PsA) in a group of patients with established disease.

Methods: Patients were included on clinical and/or radiologic criteria. The modified index combined features of existing radiologic indices for ankylosing spondylitis (AS) with the addition of scores for the facet joints of the cervical and lumbar regions.

A dynamic model of plant growth with interactions between development and functional mechanisms to study plant structural plasticity related to trophic competition.

Background And Aims: The strong influence of environment and functioning on plant organogenesis has been well documented by botanists but is poorly reproduced in most functional-structural models. In this context, a model of interactions is proposed between plant organogenesis and plant functional mechanisms.

Methods: The GreenLab model derived from AMAP models was used.

HLA-B*2709 and lack of susceptibility to sacroiliitis: further support from the clinic.

Interferons (IFN) are well known triggers of immunomediated diseases in genetically predisposed subjects. We describe the unique case of a HLA-B*2709 positive subject who underwent IFN-alpha treatment for essential thrombocythemia and developed arthritis of the proximal interphalangeal joints of the hands but not sacroiliitis. The possible mechanisms of IFN-induced arthritis are discussed.

The interplay between the geographic distribution of HLA-B27 alleles and their role in infectious and autoimmune diseases: a unifying hypothesis.

Due to its strong association with Ankylosing Spondylitis and the other Spondyloarthropathies, the HLA-B27 family of alleles and, in particular, the ancestral HLA-B*2705, has been the object of numerous studies. More recently, some novel interesting features have emerged such as the ability of HLA-B27 to confer resistance to the progression of HIV infection and to promote a spontaneous CD8+ T cell-mediated viral clearance of HCV. The co-occurrence of these protective and pathogenic features suggests a common ground, i.

Expression of galectins-1, -3 and -4 varies with strain and type of experimental colitis in mice.

Galectins are increasingly the focus of biomedical research. Although they are involved at different stages in inflammation, data on galectins in colitis remain scarce. The aim of this study was to determine and compare the expression of galectins in acute and chronic experimental colitis in mice.

Familial chilblain and late contractural arachnodactyly: a novel association?

We report an Italian family suffering from chilblain. Seven members over three generations affected, two of them presenting association with late contractural arachnodactyly. Inflammatory cutaneous lesions following exposure to cold or drop in temperature are called chilblain.

Parametric identification of a functional-structural tree growth model and application to beech trees (Fagus sylvatica).

Functional-structural models provide detailed representations of tree growth and their application to forestry seems full of prospects. However, owing to the complexity of tree architecture, parametric identification of such models remains a critical issue. We present the GreenLab approach for modelling tree growth.

Hemarthrosis as acute presentation of acquired hemophilia in a patient with systemic lupus erythematosus: successful treatment and long-lasting remission.

Hemorrhagic events due to production of antibodies directed against coagulation factors are rarely observed in systemic lupus erythematosus (SLE). We report the case of a patient with clinically quiescent SLE who developed factor VIII inhibitor in acquired hemophilia presenting as hemarthrosis. Initial treatment with FVII, FVIII and FIX plasma concentrate, metilprednisolone and immunoglobulins i.

Association of MICA alleles with psoriatic arthritis and its clinical forms. A multicenter Italian study.

Objective: Analysis of the association between psoriatic arthritis (PsA) clinical forms and MICA gene transmembrane polymorphisms.

Methods: Patients were classified as having peripheral asymmetric oligoarthritis (AO), peripheral symmetric poly-arthritis (PA) and spondylitis (SP), or disease combinations (PA/SP, OA/SP). Two hundred and twenty-six patients with PsA were typed for MICA exon 5 microsatellite (TM) by heteroduplex analysis and compared with 225 normal controls.

The psoriatic arthritis cost evaluation study: a cost-of-illness study on tumour necrosis factor inhibitors in psoriatic arthritis patients with inadequate response to conventional therapy.

Objective: To evaluate costs, benefits and cost-effectiveness of anti-TNF agents in PsA patients with inadequate response to conventional treatment.

Methods: A total of 107 patients, from nine Italian rheumatology centres, with different forms of PsA were given anti-TNF treatment, mainly etanercept (87%). Information on resource use, health-related quality of life, disease activity, function and laboratory values were collected at baseline and through out the 12 months of therapy.