IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.

IRF2BPL has recently been described as a novel cause of neurodevelopmental disorders with multisystemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. We describe a novel IRF2BPL phenotype consistent with progressive myoclonus epilepsy (PME) in three novel subjects and review the features of the 31 subjects with IRF2BPL-related disorders previously reported. Our three probands, aged 28-40 years, harbored de novo nonsense variants in IRF2BPL (c.

Long-term follow-up of patients with a quadripolar active fixation left ventricular lead: An Italian multicenter experience.

Introduction: Left ventricular (LV) lead optimal positioning is one of the most important determinants of cardiac resynchronization therapy (CRT) success. LV quadripolar active fixation (QAF) leads have been designed to ensure stable LV pacing in the target area and reduce the likelihood of phrenic nerve stimulation (PNS). The aim of this analysis is to compare performances, safety, and clinical outcomes of QAF with those of quadripolar passive fixation leads (QPL) and bipolar active fixation (BAF) leads in a real-world cohort of CRT patients.

Non-interventional, retrospective data of long-term home parenteral nutrition in patients with benign diseases: Analysis of a nurse register (SERECARE).

Objectives: The aim of this study was to evaluate the safety and efficacy of home parenteral nutrition (HPN) service in patients with benign chronic intestinal failure (CIF).

Methods: This was a 10-y retrospective, non-interventional, multicenter study conducted with adult and pediatric patients with CIF who received HPN service. We analyzed data prospectively collected from a dedicated register by HPN nurses.

Bipolar active fixation left ventricular lead or quadripolar passive fixation lead? An Italian multicenter experience.

Aims: About one-third of patients receiving cardiac resynchronization therapy (CRT) are not responders, due to either patient selection or technical issues. Left ventricular quadripolar passive fixation leads (QPL) and bipolar active fixation (BAF) leads have been designed to ensure a targeted left ventricular stimulation area, minimizing lead dislodgments and phrenic nerve stimulation (PNS). The aim was to compare real-world safety and efficacy of BAF (Attain Stability, Medtronic Plc.

Switch to maraviroc with darunavir/r, both QD, in patients with suppressed HIV-1 was well tolerated but virologically inferior to standard antiretroviral therapy: 48-week results of a randomized trial.

Objectives: Primary study outcome was absence of treatment failure (virological failure, VF, or treatment interruption) per protocol at week 48.

Methods: Patients on 3-drug ART with stable HIV-1 RNA <50 copies/mL and CCR5-tropic virus were randomized 1:1 to maraviroc with darunavir/ritonavir qd (study arm) or continue current ART (continuation arm).

Results: In June 2015, 115 patients were evaluable for the primary outcome (56 study, 59 continuation arm).

Steroid treatment of acute graft--host disease grade I: a randomized trial.

Patients with acute graft--host disease (GvHD) grade I were randomized to an observation arm (n=85) or to a treatment arm (n=86) consisting of 6-methylprednisolone 1 mg/kg/day, after stratification for age and donor type. The primary end point was development of grade II-IV GvHD. The cumulative incidence of grade II-IV GvHD was 50% in the observation arm and 33% in the treatment arm (=0.

[Renal involvement in monoclonal gammopathy and multiple myeloma].

Lymphoproliferative disorders often involve the kidney either by direct cell infiltration (lymphoma) or by deposition of paraproteins (monoclonal gammopathy, multiple myeloma, LCDD, amyloidosis). Nowadays the latter phenomenon seems to be the most common as a result of the growing number of elderly people affected by monoclonal gammopathies. The nephrotoxic potential of monoclonal immunoglobulins and amyloidogenic proteins make monoclonal gammopathies clinical entities of considerable interest in nephrology.

Thalidomide-dexamethasone as up-front therapy for patients with newly diagnosed multiple myeloma: thrombophilic alterations, thrombotic complications, and thromboprophylaxis with low-dose warfarin.

Background: Venous thromboembolism (VTE) is a major complication of myeloma therapy recently observed with the increasing use of up-front thalidomide and dexamethasone (thal-dex). The pathogenesis of thal-induced VTE is not well recognized, and the role of prothrombotic factors, especially of thrombophilic abnormalities, is not yet determined.

Material And Methods: Two hundred and sixty-six patients with newly diagnosed multiple myeloma (MM) were primarily treated with thal-dex in preparation for subsequent high-dose therapy and autologous stem-cell transplantation.

[Atherosclerosis regression and plaque stabilization: comparison of therapeutic targets].

Atherosclerosis is a systemic disease where atheromatous plaque is the basic lesion. A number of studies have shown that atherosclerotic lesions progress over time, when risk factors such as arterial hypertension and hyperlipidemia are present. Many clinical trials have been conducted in the last decade, both with antihypertensive and lipid-lowering drugs.