adult

Osimertinib beyond disease progression in T790M EGFR-positive NSCLC patients: a multicenter study of clinicians’ attitudes

Background: In most cases, T790M EGFR-positive NSCLC patients receiving osimertinib developed “non-drugable” progression, as the patients with common EGFR-sensitizing mutations were treated with first-line osimertinib. In both settings, chemotherapy represents the standard treatment and local ablative treatments (LATs) are potential useful options in the case of oligo-progression.

Combined analysis of intragastric malignant exfoliation and Ca 72.4 concentration in stomach adenocarcinoma. The "GL1 Ca 72.4" parameter

Differently from other digestive malignancies, gastric cancer (GC) pathobiology is still little known and understood. Recently, cytopathology and molecular biology on gastric juice/gastric lavage (GJ/GL) of GC patients have provided novel and interesting results in terms of screening, diagnosis, prognosis, and therapy. However, entertaining cytologic examination and molecular test as a unified solo-run test is previously unreported. Our aim was to assess the new parameter "GL Ca 72.4" for GC patients.

Subcutaneous implantable cardioverter defibrillator implantation. An analysis of Italian clinical practice and its evolution

Background: The subcutaneous implantable cardioverter defibrillator (S-ICD) is a relatively novel alternative to the transvenous ICD for the treatment of life-threatening ventricular arrhythmias, and is currently used in the clinical practice of several centers. The aim of this analysis was to describe current Italian practice regarding S-ICD implantation and its evolution over the years. Methods: We analyzed 607 consecutive patients (78% male, 48 ± 16 years) who underwent S-ICD implantation in 39 Italian centers from 2013 to 2017.

Achieving Reliable Diagnosis in Late Breast Implant Seromas. From Reactive to Anaplastic Large Cell Lymphoma

Late onset of fluid collection surrounding breast implants may represent a serious issue when considering the possibility of breast implant-associated anaplastic large cell lymphoma, a newly recognized type of T-cell malignancy. However, many other factors, including trauma and infections, may be implicated in the formation of non-neoplastic periprosthetic delayed effusions.

Mutations in the GLA gene and LysoGb3.Is it really anderson-fabry disease

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder.

Clinical outcomes in adult athletes with hypertrophic cardiomyopathy: A 7-year follow-up study

Objective Current guidelines recommend precautionary disqualification from competitive sports in patients with hypertrophic cardiomyopathy (HCM). We assessed the incidence of cardiovascular events in a cohort of patients with HCM engaged in long-term exercise programmes and competitive sport. Methods We reviewed data on 88 consecutive athletes diagnosed with HCM, from 1997 to 2017; 92 male, 98 Caucasian, median age 31 (IQR: 19-44) years. All participated in regular exercise programmes and competitive sport at study entry. We performed follow-up evaluation after 7±5 (1-21) years.

Biomechanical characterization of the junzuki karate punch: indexes of performance

The aims of this study were: (i) to determine kinematic, kinetic, and electromyographic characteristics of Junzuki karate punch in professional karate athletes; (ii) to identify biomechanical parameters that correlate with punch force and lead to a higher punching performance; (iii) to verify the presence of muscle co-activation in the upper limb, trunk, and lower limb muscles. Data were collected from nine experienced karatekas from the Accademia Italiana Karate e Arti Marziali during the execution of the specific punch.

Potential toxic elements in groundwater and their health risk assessment in drinking water of Limpopo National Park, Gaza Province, Southern Mozambique

Concentrations of trace elements in drinking water affect its safety and acceptability for use. Potentially toxic element (PTE) contaminations are considered extremely hazardous because of toxicity, persistence, and bioaccumulative behaviour. Many areas in the Southern African Development Community are data poor and have poor accessibility. The results of our previous research identified the presence of fossil waters in southern Limpopo National Park. Groundwater and river water are the only sources of drinking water for the villages in the study area.

High-dose vitamin B supplementation for persistent visual deficit in multiple sclerosis: a pilot study

The aim of this study is to investigate the potential neuroprotective effect of high-doses vitamins B1, B6 and B12 in patients with relapsing-remitting multiple sclerosis (RRMS) and persistent visual loss after acute optic neuritis (AON). Sixteen patients (20 eyes) diagnosed with RRMS and visual permanent disability following AON were enrolled for the present open, pilot study. Each patient was treated with oral high-doses 300 mg of vitamin B1, 450 mg of vitamin B6 and 1,500 mcg of vitamin B12, as add-on treatment to concomitant disease-modifying therapies (DMTs) for consecutive 90 days.

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