A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I. Mutations in in the X-linked nuclear encoded NDUFB11 gene have recently been discovered in association with two distinct phenotypes, i.e. microphthalmia with linear skin defects and histiocytoid cardiomyopathy. We report on a male with complex I deficiency, caused by a de novo mutation in NDUFB11 and displaying early onset sideroblastic anemia as the unique feature. This is the third report that describes a mutation in NDUFB11 but all are associated to a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of NDUFB11 defects

UVA1 phototherapy as a treatment option for plaque psoriasis in HIV-positive patients

Treatment of psoriasis in HIV-positive patients might be challenging since most of the available therapies are immunosuppressive. UVA-1 phototherapy proved to be a safe and effective treatment option in psoriatic HIV-positive patients

Impact of the COVID-19 pandemic and lockdown on the clinical response to dupilumab treatment and the psychological status of non-infected atopic patients

Background: Dupilumab is an effective treatment for atopic dermatitis and was found to improve results of clinician- and patient-oriented tests with relevant benefits across multiple domains related to the disease. Objectives: To investigate the effects of significant psychological stress on clinician- and patient-oriented tests for severe AD patients treated with dupilumab. Patients were investigated before and during the COVID-19 pandemic and lockdown in a severely affected area. Materials & Methods: Forty-five adult patients suffering from severe AD were enrolled. Clinician-oriented (EASI, SCORAD and NRS scores for sleep loss and itching) and patient-oriented tests (DLQI, POEM and HADS) were administered at baseline (TO) and after 16 (T1) and 24 (T2) weeks. The T2 examination took place just before the outbreak of the COVID-19 pandemic. A further examination took place at 32 weeks (T3) during the COVID-19 pandemic and lockdown. Results: In comparison to baseline, dupilumab treatment rapidly improved the scores of all tests. After this, the pandemic and lockdown started, and scores of clinician-oriented tests remained almost stable, while patient-oriented scores markedly deteriorated, although they remained better than at baseline. Some personal and social situations seemed to be linked to a worse result. Conclusion: Despite dupilumab being effective in inducing and maintaining clinical remission of AD, the COVID-19 pandemic and lockdown significantly impaired patients' perception of the disease, quality of life and anxiety and/or depression. However, this psychological status did not modify the therapeutic response to dupilumab

Valutazione della frequenza dell’allergia alimentare in età scolare

From the collected data it is possible to deduce the high prevalence in pediatric age of food related allergy, the earliness of its onset and its persistence in a minority of cases