The missense PTPN22 C1858T polymorphism recently emerged as an important population-independent risk factor for type 1 diabetes (T1D) and other autoimmune diseases. The PTPN22 gene encodes the lymphoid tyrosine phosphatase (LYP), a negative regulator of signal transduction through the T-cell receptor. Although the frequency of the polymorphism is variable among different ethnic groups, the association between PTPN22 *T1858 and T1D has been replicated in several populations. Here, we contribute the first replication of the association between PTPN22 and T1D in populations from continental Italy, carried out in two independent samples of T1D patients (N = 216 and 82) and controls (N = 271 and 89). Our data also suggest that T1D carriers of the *T1858 allele could be at increased risk for other comorbid autoimmune disorders.

Currently, despite well-known mutational causes, a universal treatment for neuromuscular disorders is still lacking, and current therapeutic efforts are mainly restricted to symptomatic treatments. In the present study, ␦-sarcoglycan-null dystrophic hamsters were fed a diet enriched in flaxseed-derived 3 ␣-linolenic fatty acid from weaning until death. ␣-linolenic fatty acid precluded the dystrophic degeneration of muscle morphology and function. In fact, in dystrophic animals fed flaxseed-derived ␣-linolenic fatty acid, the histological appearance of the muscular tissue was improved, the proliferation of interstitial cells was decreased, and the myogenic differentiation originated new myocytes to repair the injured muscle. In addition, muscle myofibers were larger and cell membrane integrity was preserved, as witnessed by the correct localization of ␣-, ␤-, and ␥-sarcoglycans and ␣-dystroglycan. Furthermore , the cytoplasmic accumulation of both ␤-catenin and caveolin-3 was abolished in dystrophic hamster muscle fed ␣-linolenic fatty acid versus control animals fed standard diet , while ␣-myosin heavy chain was expressed at nearly physiological levels. These findings , obtained by dietary intervention only , introduce a novel concept that provides evidence that the modulation of the plasmalemma lipid profile could represent an efficacious strategy to ameliorate human muscular dystrophy.

Regenerative therapies including stem cell treatments hold promise to allow curing patients affected by severe cardiac muscle diseases. However, the clinical efficacy of stem cell therapy remains elusive, so far. The two key roadblocks that still need to be overcome are the poor cell engraftment into the injured myocardium and the limited knowledge of the ideal mixture of bioactive factors to be locally delivered for restoring heart function. Thus, therapeutic strategies for cardiac repair are directed to increase the retention and functional integration of transplanted cells in the damaged myocardium or to enhance the endogenous repair mechanisms through cell‐free therapies. In this context, biomaterial‐based technologies and tissue engineering approaches have the potential to dramatically impact cardiac translational medicine. This review intends to offer some consideration on the cell‐based and cell‐free cardiac therapies, their limitations and the possible future developments.

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To determine the occurrence of familial and sporadic forms of hypertrophic cardiomyopathy (HC) 74 first-degree relatives of 21 patients with proven HC were studied by M-mode and two-dimensional echocardiography. A diagnosis of HC was made in 11 relatives (15%) while it was excluded in 61 of them (82%); 2 subjects (3%) were considered neither affected nor unaffected (borderline left ventricular hypertrophy suggestive of HC). Inspection of pedigrees revealed 38% of familial forms of HC with an autosomal dominant pattern of inheritance in 5/8 families (62%). Furthermore, among those relatives judged unaffected by means of full echocardiographic criteria for HC, an attempt was made to find out whether minor changes of left ventricular geometry were present for their possible implications in genetics of HC (latent or potential forms, low phenotypic expression of the disease). Eleven out of 61 unaffected relatives had a left ventricular wall thickness radius ratio > .50 (equivocal hypertrophy), a value that was higher than two standard deviations of the control group. Assessment of clinical significance of borderline and equivocal hypertrophy in relatives of patients with HC is required for a better understanding of genetic transmission of this disease. In this view the occurrence of sporadic and familial forms of HC might be revisited.

Background: Previous studies have shown a negative association between ACP1 *B/*C genotype and total IgE level. ACP1 (acid phospatase locus 1) is a polymorphic phosphotyrosine phosphatase that interacts with IL4-RA and is involved in T cell receptor signaling. Methods: In the present paper, we have studied the relationship between *B/*C genotype which shows high ACP1 activity and skin testing in 300 adult subjects referred for allergic manifestations. ACP1 genotypes were determined by DNA analysis. Results: There is a significant negative correlation between the intensity of skin test reaction and *B/*C genotype (p = 0.01). The proportion of *B/*C genotype is lower in allergic subjects with intense skin reaction than in allergic subjects with moderate skin reaction and in healthy controls. Conclusions: This new observation confirms by a different approach the relationship between ACP1 polymorphism and allergic manifestations, suggesting that high ACP1 activity protects against these manifestations.