We investigate nonlinear elliptic Dirichlet problems whose growth is driven by a general anisotropic N -function, which is not necessarily of power type and need not satisfy the ∆2 nor the ∇2condition. Fully anisotropic, non-reflexive Orlicz-Sobolev spaces provide a natural functional framework associated with these problems. Minimal integrability assumptions are detected on the datum on the right-hand side of the equation ensuring existence and uniqueness of weak solutions. When merely integrable, or even measure, data are allowed, existence of suitably further generalized solutionsin the approximable sense -is established. Their maximal regularity in Marcinkiewicz-type spaces is exhibited as well. Uniqueness of approximable solutions is also proved in case of L 1 -data.

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A sharp integrability condition on the right-hand side of the p-Laplace system for all its solutions to be continuous is exhibited. Their uniform continuity is also analyzed and estimates for their modulus of continuity are provided. The relevant estimates are shown to be optimal as the right-hand side ranges in classes of rearrangement-invariant spaces, such as Lebesgue, Lorentz, Lorentz–Zygmund, and Marcinkiewicz spaces, as well as some customary Orlicz spaces.

The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort included 493 individuals with molecularly confirmed diagnosis of NF1 for whom cardiac evaluation data were available. CHD was reported in 62/493 (12.6%) patients. Among these patients, 23/62 (37.1%) had pulmonary valve stenosis/dysplasia, 20/62 (32.3%) had mitral valve anomalies, and 10/62 (16.1%) had septal defects. Other defects occurred as rare events. In this NF1 subcohort, three subjects carried a whole-gene deletion, while 59 were heterozygous for an intragenic mutation. A significantly increased prevalence of non-truncating intragenic mutations was either observed in individuals with CHD (22/59, 37.3%) or with pulmonary valve stenosis (13/20, 65.0%), when compared to individuals without CHD (89/420, 21.2%) (p = 0.038) or pulmonary valve stenosis (98/459, 21.4%) (p = 0.002). Similarly, patients with non-truncating NF1 mutations displayed two- and six-fold higher risk of developing CHD (odds ratio = 1.9713, 95% confidence interval (CI): 1.1162–3.4814, p = 0.0193) and pulmonary valve stenosis (odds ratio = 6.8411, 95% CI: 2.6574–17.6114, p = 0.0001), respectively. Noteworthy, all but one patient (19/20, 95.0%) with pulmonary valve stenosis, and 18/35 (51.4%) patients with other CHDs displayed Noonan syndrome (NS)-like features. Present data confirm the significant frequency of CHD in patients with NF1, and provide further evidence for a higher than expected prevalence of NF1 in-frame variants and NS-like characteristics in NF1 patients with CHD, particularly with pulmonary valve stenosis.