Italian Society for Rheumatology recommendations for the management of hand osteoarthritis.

Hand osteoarthritis (OA) is a common and potentially disabling disease, with different features from hip and knee OA so that a specific therapeutic approach is required. Evidence based recommendations for the management of hand OA were developed by the European League Against Rheumatism (EULAR) in 2006. The Italian Society for Rheumatology (SIR) aimed to update, adapt to national contest and disseminate the EULAR recommendations for the management of hand OA. The multidisciplinary group of experts included specialists involved in the management of patients with hand OA. In order to maintain consistency with EULAR recommendations, a similar methodology was utilized by the Italian group. The original propositions were reformulated in terms of a search query and for every recommendation a systematic search was conducted updating EULAR recommendations' review. The propositions were translated in Italian and reformulated basing on collected evidences and expert opinion. The strength of recommendation was measured for each proposition with the EULAR ordinal and visual analogue scales. The original 11 propositions of EULAR recommendations were translated and adapted to Italian context. Further evidences were collected about non-pharmacological therapies, local treatments, intra-articular injection with SYSADOA and corticosteroids, and surgery. The SIR has developed updated recommendations for the management of hand OA adapted to the Italian healthcare system. Their implementation in clinical practice is expected to improve the management of patients with hand OA.

Italian Society of Rheumatology recommendations for the management of gout.

OBJECTIVE: Gout is the most common arthritis in adults. Despite the availability of valid therapeutic options, the management of patients with gout is still suboptimal. The Italian Society of Rheumatology (SIR) aimed to update, adapt to national contest and disseminate the 2006 EULAR recommendations for the management of gout. METHODS: The multidisciplinary group of experts included rheumatologists, general practitioners, internists, geriatricians, nephrologists, cardiologists and evidence-based medicine experts. To maintain consistency with EULAR recommendations, a similar methodology was utilized by the Italian group. The original propositions were translated in Italian and priority research queries were identified through a Delphi consensus approach. A systematic search was conducted for selected queries. Efficacy and safety data on drugs reported in RCTs were combined in a meta-analysis where feasible. The strength of recommendation was measured by utilising the EULAR ordinal and visual analogue scales. RESULTS: The original 12 propositions were translated and adapted to Italian context. Further evidences were collected about the role of diet in the non-pharmacological treatment of gout and the efficacy of oral corticosteroids and low-dose colchicine in the management of acute attacks. Statements concerning uricosuric treatments were withdrawn and replaced with a proposition focused on a new urate lowering agent, febuxostat. A research agenda was developed to identify topics still not adequately investigated concerning the management of gout. CONCLUSIONS: The SIR has developed updated recommendations for the management of gout adapted to the Italian healthcare system. Their implementation in clinical practice is expected to improve the management of patients with gout.

A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.

BACKGROUND: Progressive external ophthalmoplegia (PEO) is a mitochondrial disorder associated with defective enzymatic activities of oxidative phosphorylation (OXPHOS), depletion of mitochondrial DNA (mtDNA) and/or accumulation of mtDNA mutations and deletions. Recent positional cloning studies have linked the disease to four different chromosomal loci. Mutations in POLG1 are a frequent cause of this disorder. METHODS: We describe two first-cousins: the propositus presented with PEO,mitochondrial myopathy and neuropathy, whereas his cousin showed a Charcot- Marie-Tooth phenotype. Neurophysiological studies, peroneal muscle and sural nerve biopsies, and molecular studies of mtDNA maintenance genes (ANT1, Twinkle, POLG1, TP) and non dominant CMT-related genes (GDAP1, LMNA, GJB1) were performed. RESULTS: A severe axonal degeneration was found in both patients whereas hypomyelination was observed only in the patient with PEO whose muscle biopsy specimen also showed defective OXPHOS and multiple mtDNA deletions. While no pathogenetic mutations in GDAP1, LMNA, and GJB1 were found, we identified a novel homozygous POLG1 mutation (G763R) in the PEO patient. The mutation was heterozygous in his healthy relatives and in his affected cousin. CONCLUSIONS: A homozygous POLG1 mutation might explain PEO with mitochondrial abnormalities in skeletal muscle in our propositus, and it might have aggravated his axonal and hypomyelinating sensory-motor neuropathy. Most likely, his cousin had an axonal polyneuropathy with CMT phenotype of still unknown etiology.

[Prevalence of obesity, overweight and hypertension in children and adolescents from Abruzzo, Italy]. / Prevalenza di obesità, sovrapeso e ipertensione nei bambini e adolescenti della provincia di Pescara.

The present survey was aimed at determining the prevalence of overweight, obesity, hypertension, their correlation and the association with gender, age and provenience, in the pediatric population of Pescara province, Italy. During the academic year 2001-2002, the body mass index (BMI) and blood pressure of 15.612 scholars aged 6-14 years (mean age 9.9), coming from all province schools, have been measured. Two scales have been used to define obesity and overweight status (one developed by the National Center for Health Statistics--NCHS--the other by Cacciari et al.); while hypertension has been attributed using National Institute of Health curves. Several multiple logistic regression models have been fitted to analyze data. According to NCHS standards, the prevalence of childhood and adolescence overweight and obesity was, respectively, 40.6% and 19.5%. Using curves by Cacciari, the prevalence were 33.3% and 7.7%. Hypertensive subjects were 11.1%. With both scales, the prevalence of weight problems widely decreased after 12 years of age, and either obesity or overweight were significantly related with male sex, hypertension and rural area residence. A strong independent association was found between living inside the city and hypertension. Although the differences in the dimension of the problem "overweight" according to the used scale, and a potential overestimation of hypertension must be taken into account, the overall data suggest an urgent need, especially for primary school children, of preventive interventions aimed at reducing both overweight and blood pressure.

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephalic leukoencephalopathy and subcortical cysts (MLC) syndrome. Marked clinical intrafamilial and interfamilial variability in mutation-proven cases was found. A broad spectrum of pathogenetic mutations (missense, splice site, insertion, and deletions) were identified in the MLC1 gene, enlarging the spectrum of allelic variants without a straightforward genotype-phenotype correlation. Five patients did not harbor mutations in MLC1, supporting the existence of at least one other MLC locus.

[The therapy of Raynaud's phenomenon]. / La terapia del fenomeno di Raynaud.

Management of Raynaud's phenomenon is essentially "symptomatic". Some hygienic-behavioral rules intended to eliminate all factors (cold, cigarette smoking, drugs, traumata) apt to trigger the phenomenon are essential. A number of drugs have been suggested for treatment: Nifedipine had been found to be effective in reducing frequency and duration of vasospastic attacks thanks to its mainly vasodilatory action, to its ability to influence platelet activity as well as to its antithrombotic effect. Also the most recent generation of calcium-channel blockers (nicardipine felodipine, isradipine, etc.) were found to have therapeutic efficacy comparable to that of nifedipine, with the added advantage of a once daily dosage. Ketanserin, a serotoninergic antagonist, is a valid alternative to calcium-channel blockers for treatment of Raynaud's phenomenon in as much as it can reduce frequency, duration and severity of vasospastic attacks, although not all authors agree upon this point. The use of prostanoids is usually reserved for cases of Raynaud's phenomenon associated with systemic sclerosis accompanied by extensive trophic disorders. Surgery is indicated only in selected cases.

[Sjögren's syndrome: therapeutic trends]. / La sindrome di Sjoegren: attualità terapeutiche.

Sjögren syndrome is an autoimmune, mostly benign disorder characterized by functional impairment of exocrine glands, especially of the salivary and lacrimal glands. Symptomatic treatment with recourse to hygienic measures and topical therapy permits to attenuate secondary disorders due to hyposecretion. Among drugs used, hydrochloroquine has proved apt to bring about marked improvement in some laboratory test results although it has scarce effect on the clinical picture. Corticosteroids and immunodepressant agents are indicated in severe forms of the disease with accompanying extraglandular and systemic manifestations. Some authors have reported interesting findings concerning the usefulness of a low lipid diet which is said to reduce inflammation and lymphocyte infiltration of the glands involved; these findings deserve further research.