Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy

The mutational analysis of potassium (KCNQ2, KCNQ3), sodium (SCN1A, SCN2A), and chloride (CLCN2) ion channels was performed in three children with typical features of the recently described syndrome of migrating partial seizures in infancy. Mutational analysis was performed by PCR and automatic sequencing. The coding regions, including the exon-intron boundaries, were amplified in the patients using appropriate primers sets. No mutations associated to migrating partial seizures have been found. Mutational screening of CLCN2 gene, revealed a homozygous mutation G2003C (exon 17), leading to a Ser/Thr substitution at the codon 668, in two of the three patients. The same variation has been found in 38 out of 100 control alleles. The identification of the genetic basis of this new epileptic encephalopathy requires further studies that might be enforced by familial cases.     

Drug-eluting Stent Patency at 6 Months in the Pedal Artery of a Patient with Polyarteritis Nodosa: A Case Report

Drug-eluting stents are largely used in coronary arteries and more recently in tibial arteries owing to their potentially better outcomes compared with bare metal stents. A patient with polyarteritis nodosa and critical limb ischemia and a dorsal foot ulcer was previously unsuccessfully treated with multiple angioplasties and subsequently underwent implantation of a drug-eluting stent in the pedal artery. At 6 months, stent patency on color Doppler ultrasound and complete healing of the foot ulcer were observed.     

MR-Guided High-Intensity Focused Ultrasound: Current Status of an Emerging Technology

The concept of ideal tumor surgery is to remove the neoplastic tissue without damaging adjacent normal structures. High-intensity focused ultrasound (HIFU) was developed in the 1940s as a viable thermal tissue ablation approach. In clinical practice, HIFU has been applied to treat a variety of solid benign and malignant lesions, including pancreas, liver, prostate, and breast carcinomas, soft tissue sarcomas, and uterine fibroids. More recently, magnetic resonance guidance has been applied for treatment monitoring during focused ultrasound procedures (magnetic resonance–guided focused ultrasound, MRgFUS). Intraoperative magnetic resonance imaging provides the best possible tumor extension and dynamic control of energy deposition using real-time magnetic resonance imaging thermometry. We introduce the fundamental principles and clinical indications of the MRgFUS technique; we also report different treatment options and personal outcomes.     

Consumers’ attitudes before and after the introduction of the Chilean regulation on food labelling

Abstract

The aim of the present study is to understand how the attitudes towards food labelling in the Chilean population have changed after the introduction of the Chilean law on food labelling and advertising. A computer-assisted telephone interview was conducted in 2012 and 2016, employing the same procedures. The difference in outcomes between 2012 and 2016 was assessed using a logistic regression model. One hundred and sixty-seven subjects responded to both the 2012 and 2016 survey editions (respondents). For both the unadjusted and adjusted analyses, the respondents in 2016 were more likely to be involved in a programme to lose weight and to consider food labelling the most effective intervention introduced to date to promote healthy nutrition. However, no significant differences were reported in both self-reported and objectively assessed understandings of front-of-pack-labelling. Evidence suggests a positive perception among Chileans regarding the effectiveness of the new law.     

Health Workers’ Perceptions of Italian Female Adolescents: A Qualitative Study About Sexuality,Contraception, and Caring Practices in Family Health Centers

Our aim was to explore health workers’ perceptions of providing sexuality and contraception care for female adolescents within family health centers. We interviewed 26 volunteer health workers and analyzed the interviews using thematic analysis. We identified three main themes: (a) “adolescents and sexuality,” with the subthemes “initiation rite,” “me like the others,” and “just for fun”; (b) “adolescents and contraception,” with the subthemes “omnipotent adolescents,” “aware adolescents,” and “women's responsibility”; and (c) “health workers and adolescents,” with the subthemes “to put in order,” “to catch,” and “to teach to take care of themselves.” Our results provided an interesting picture of health workers’ perceptions of their work with Italian female adolescents regarding sexuality and contraception.     

Pharmacokinetics and antineoplastic activity of galectin-1-targeting OTX008 in combination with sunitinib

Purpose

OTX008 is a galectin-1-targeting compound, currently undergoing a phase I clinical trial. This study aimed at investigating OTX008 pharmacokinetics (PK) and antineoplastic activity.

Methods

Pharmacokinetics and activity of OTX008 were analyzed in the human ovarian carcinoma A2780-1A9 and glioblastoma U87MG xenografted in nude mice. In vitro, OTX008 was tested on tumor and endothelial cells.

Results

After 5 mg/kg i.v., OTX008 achieved plasma Cmax of 14.39 μg/mL, distributed rapidly, and was eliminated with a half-life of 31.4 h. Tumor OTX008 Cmax (1.65 μg/g, 1.76 μM), achieved at 0.5 h, remained high at 24 h (0.516 μg/g, 0.55 μM) with AUC of 15.76 μg/g*h. OTX008 accumulated in the tumor after repeated administrations achieving a concentration of 2.3 μM, compatible with the concentrations active in vitro. OTX008 (5 mg/kg i.v., every other day for 3 weeks) inhibited the in vivo growth of A2780-1A9, whereas U87MG was not sensitive. In vitro, OTX008 affected endothelial cell proliferation, motility, invasiveness, and cord formation. Tumor cell proliferation was also inhibited, with differences in sensitivity among cell lines (IC50 from 1 to 190 μM). OTX008 potentiated the activity of the tyrosine kinase inhibitor sunitinib on A2780-1A9 in vivo and in vitro, where the combination showed synergistic (endothelial cells) and additive (A2780-1A9) antiproliferative activity, indicating that the combination targets both the tumor and vascular compartments.

Conclusions

OTX008—alone or in combination with sunitinib—has a favorable PK and antineoplastic activity on selected tumor models through the effects on both endothelial and tumor cells.     

Fludarabine,Cyclophosphamide, and Rituximab in Salvage Therapy of Waldenström's Macroglobulinemia

The combination FCR (fludarabine, cyclophosphamide, and rituximab) proved to be active in Waldenström's macroglobulinemia in a mixed population of untreated and previously treated patients. Prolonged myelosuppression and concerns about purine analogue treatment led to the conclusion that this regimen should be avoided in younger patients in first-line treatment. In this retrospective study on 40 patients we observed a response rate of 80% (32) after FCR salvage treatment with 32.5% (13) of patients reaching at least a very good partial remission. None of the prognostic variables had a significant effect on response or good quality of response achievement. Median event-free survival was reached at 77 months; median progression-free survival was not reached after a median follow-up of 51 months with any difference when categorizing patients according to quality of response. The results of this study suggest that the FCR regimen might overcome poor prognostic features and should be taken into account as salvage treatment. Tardive immunosuppression and myelosuppression warrant accurate patient follow-up.     

Scalp infection by Candida Albicans in an immunocompetent patient: a description of a rare case

Candida is a large genus of yeast, consisting of about 150 species, among which C.albicans is the most prevalent fungal species of the human microbiota. C. albicans is the most important fungal opportunistic pathogen that can cause infection when the host becomes debilitated or immunocompromised. We report a case of a scalp infection by C.albicans in a patient without an obvious immunocompromised state.