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Purposes It is widely known that in Orthopaedics, as in each specialty, the academic influence of an article is also determined by the number of times the article is cited. The aim of this study was to identify the 50 most frequently cited Italian orthopaedics journal articles and to analyse the characteristics that might have made them more citable. Methods Science Citation Index Expanded was searched for the 50 most frequently cited Italian orthopaedics journal articles between 1988 and 2013 in the subject category “Orthopaedics”. Results The 50 most frequently cited articles were all published in English and were published in 12 of the 67 journals in the subject category “Orthopaedics” in the Institute for Scientific Information Web Science (Thomson Reuters, New York, New York, USA). One half of the articles were published before 2000 and the other half later. The number of citations ranged from 423 of the first article (mean citation/years 21.15) to 83 of the fiftieth (mean citation/years 16.60). The articles were all categorized under orthopaedic field, but each of them spanned from orthopaedics to a specific sub-specialty. The majority was clinical articles ( n  = 39), and the most common fields were sport orthopaedic surgery (including arthroscopy and cartilage) ( n  = 19) and biomechanics ( n  = 12). Conclusions This list of 50 most frequently cited Italian articles is, to our knowledge, significantly important for the general orthopaedic scientific community, particularly for the Italian orthopaedic community. Researchers and doctors may use this work to make their future publications more influential and citable.

Aims: To describe the clinical phenotype of X linked juvenile retinoschisis in eight Italian families with six different mutations in the XLRS1 gene. Methods: Complete ophthalmic examinations, electroretinography and A and B-scan standardised echography were performed in 18 affected males. The coding sequences of the XLRS1 gene were amplified by polymerase chain reaction and directly sequenced on an automated sequencer. Results: Six different XLRS1 mutations were identified; two of these mutations Ile81Asn and the Trp122Cys, have not been previously described. The affected males showed an electronegative response to the standard white scotopic stimulus and a prolonged implicit time of the 30 Hz flicker. In the families with Trp112Cys and Trp122Cys mutations we observed a more severe retinoschisis (RS) clinical picture compared with the other genotypes. Conclusion: The severe RS phenotypes associated with Trp112Cys and to Trp122Cys mutations suggest that these mutations determine a notable alteration in the function of the retinoschisin protein.

Comment The new mutation, described here, lies very close to the cysteine position 165 and 166 residues that have been suggested to be important for the ability of the peripherin protein to keep normal flattened outer segment disc morphology. 8 The morphological changes associated with RDS mutations causing pattern dystrophies of the macula ranged from mild depigmentation of the fovea to advanced geographic atrophy or choroidal neovascularisation. 6, 9, 10 In this study the two younger patients (II-1 and II-2) showed typical lesions of \"butterfly-shaped\" pattern dystrophy while the oldest one (I-1) had a severe geographic atrophy of the retina probably as an advanced evolution of lesions showed by his daughters.

E ditor ,-Retinitis pigmentosa (RP) comprises a group of hereditary progressive retinal degenerative conditions characterised by typical fundus alterations, loss in visual field, and severely reduced or unrecordable electroretinograms (ERG) The first reported disease related mutations in the human rhodopsin gene, described in 1990 by Dryja et al, 1 was a heterozygous C[arrow right]A tranversion in the second nucleotide of codon 23. Since than many further mutations has been identified to a current total of about 90. In many cases of retinal degeneration cells undergo apoptotic death; but it is not known whether apoptosis is involved in all the forms of induced or degenerative photoreceptor death. 4 Such mechanisms are just coming under scrutiny.

Autosomal recessive Stargardt disease (STGD) has been associated with substantial genetic and phenotypic heterogeneity. By systematic clinical analyses of STGD patients with complete genetic data (i.e. identified mutations on both alleles of the ABCA4 gene), we set out to determine phenotypic subtypes and to correlate these with specific ABCA4 alleles. Twenty-eight patients from 18 families with STGD/fundus flavimaculatus were investigated. All patients were submitted to complete ophthalmologic examination, electrophysiology, fluorescein angiography and ABCA4 gene chip analysis. Two main clinical phenotypes were observed among the examined patients. The severe phenotype was characterized by the onset of the disease <20 years and reduced ERG response, whereas the mild phenotype presented with later onset of the disease and a normal ERG response. Genetic analysis of the ABCA4 gene revealed, in the severe group, more frequently deletions, stop codons and insertions as compared to the mild phenotype group (p = 0.0113 by Fisher’s exact test). Moreover, the compound heterozygous mutations G1961E/5018 + 2T → C found in 7 patients from 3 unrelated STGD families were associated with a mild phenotype in all subjects, except 1. This study documented variability of the clinical expression of STGD in relation to the age of onset of the disease, fundus appearance and the ERG response and allowed to subdivide patients into a severe and a mild phenotype group. These findings suggest that an extensive and comprehensive genetic analysis of STGD patients combined with thorough clinical evaluation, including the careful recording of the age of onset of the disease, would allow a more precise prognostic evaluation.

In this study we have investigated the oxidative metabolism of red blood cells (RBC), plasma, serum, aqueous humor, and lens of healthy subjects and of age-matched cataractous patients with and without diabetes. Reduced and oxidized glutathione (GSH, GSSG) levels in RBC were similar among the three groups. Plasma levels of GSSG were higher in diabetics than in cataractous and control subjects. No differences in plasma content of GSH were noted among the three groups. The activity of the enzyme glucose-6-phosphate dehydrogenase was significantly diminished in diabetic patients. Controls and cataractous patients showed similar levels of malondialdehyde (MDA). Although not significant, the MDA content in RBC from diabetics was elevated. No differences in plasma levels of vitamin E were noted among the three groups. The biological liquid oxidant activity of serum in diabetic patients was significantly higher than in controls and cataractous patients. GSH levels in aqueous humor were similar in diabetic and nondiabetic cataractous patients. The content of GSSG in aqueous humor was highest in diabetic patients. Control clear lenses showed low levels of MDA. The MDA levels in cataractous lenses from nondiabetic patients were significantly higher than those of controls. In diabetic patients the content of MDA in the lens was approximately twice as high as the cataractous values. Our results seem to demonstrate that oxidative damages could play a role in the pathogenesis of cataract in diabetes.

Genetic variation in the ABCA4 (ABCR) gene has been associated with several distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus (STGD/FFM), cone-rod dystrophy (CRD), retinitis pigmentosa (RP) and age-related macular degeneration. The current model of genotype/phenotype association suggests that patients harboring deleterious mutations in both ABCR alleles would develop RP-like retinal pathology. Here we describe ABCA4-associated phenotypes, including a proband with a homozygous nonsense mutation in a family from Southern Italy. The proband had been originally diagnosed with STGD. Ophthalmologic examination included kinetic perimetry, electrophysiological studies and fluorescein angiography. DNA of the affected individual and family members was analyzed for variants in all 50 exons of the ABCA4 gene by screening on the ABCR400 microarray. A homozygous nonsense mutation 2971G>T (G991X) was detected in a patient initially diagnosed with STGD based on funduscopic evidence, including bull’s eye depigmentation of the fovea and flecks at the posterior pole extending to the mid-peripheral retina. Since this novel nucleotide substitution results in a truncated, nonfunctional, ABCA4 protein, the patient was examined in-depth for the severity of the disease phenotype. Indeed, subsequent electrophysiological studies determined severely reduced cone amplitude as compared to the rod amplitude, suggesting the diagnosis of CRD. ABCR400 microarray is an efficient tool for determining causal genetic variation, including new mutations. A homozygous protein-truncating mutation in ABCA4 can cause a phenotype ranging from STGD to CRD as diagnosed at an early stage of the disease. Only a combination of comprehensive genotype/phenotype correlation studies will determine the proper diagnosis and prognosis of ABCA4-associated pathology.

It is acknowledged that, in spite of their generally worse health, women live longer than men. However, whether women also enjoy longer disability-free lives is still unclear. Using data from a representative, Italian cohort followed for 6 years, this study aimed at estimating differences between men and women in the age of disability onset and in total survival. In 1989, 651 persons aged > or = 65 years were interviewed and their medical status was assessed by a geriatrician. In 1995, the time of onset of disability was reconstructed by re-interviewing 392 survivors and collecting proxy information for 201 subjects who had died. No information was available for 58 subjects who refused to be re-interviewed or were lost to follow-up. Data on changes in functional status were also collected by proxy interview for 34 additional persons who had died during the follow-up period, although they had not been originally interviewed at baseline. Of the 235 deaths, 113 were men and 122 were women. On average, the age at death was 3.5 years higher among women than among men. However, the age at onset of disability was similar in the two sexes. In survival analysis in which age was the time variable, women were as likely as men to develop disability, but significantly less likely to die over the follow-up period. Compared with men, women experience longer disability before death. This may be due to sex-related differences in the lifetime prevalence of lethal vs. disabling diseases.