Motor and neurocognitive profiles of children with symptomatic spinal muscular atrophy type 1 with two copies of before and after treatment: a longitudinal observational study.

Introduction: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 () gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma, Novartis) was efficacious in improving motor functioning in children with SMA. However, its effects on cognitive and language skills are largely unknown.

Sequential treatment with nusinersen, Zolgensma and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes muscle atrophy and weakness. While no specific therapies existed until a few years ago, several effective disease-modifying treatments have become available in recent years. However, there are currently no recommendations on the management of therapy sequencing involving these new treatments.

Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked myopathy caused by mutations, in most cases deletions and duplications, in the dystrophin gene. Point mutations account for 13% and stop codon mutations are even rarer. Ataluren was approved for the treatment of DMD caused by nonsense mutations in 2014, and several clinical trials documented its efficacy and safety.

Manufacturability and Stress Issues in 3D Silicon Detector Technology at IMB-CNM.

This paper provides an overview of 3D detectors fabrication technology developed in the clean room of the Microelectronics Institute of Barcelona (IMB-CNM). Emphasis is put on manufacturability, especially on stress and bow issues. Some of the technological solutions proposed at IMB-CNM to improve manufacturability are presented.

Reconstruction of surgical defect of the dorsum of the hand.

In some cases, keratoacanthomas can be indistinguishable from squamous cell carcinoma, making the gold standard treatment surgical excision with histopathological evaluation. The surgical defects created on the back of the hand can be challenging to repair. We describe the use of bilateral rotation flap as an option in this area, and discuss the indications and contraindications of some of the possible surgical techniques for reconstruction of the dorsum of the hand.

18F-FDG PET/CT in preoperative staging of vulvar cancer patients: is it really effective?

The aim of this study was to assess the role of 18F-FDG PET/CT in preoperative staging of vulvar cancer patients.29 pts (69 years, range 51-88) with vulvar cancer (clinical apparent stage I-II), underwent preoperative FDG-PET/CT scan followed by radical vulvectomy and bilateral (or monolateral in case of tumor >2 cm from midline) inguinal lymphadenectomy ± sentinel node biopsy. PET/CT images were analyzed in consensus and correlated to histological findings according to a pt-based and a groin-based analyses.

Sentinel-node mapping in endometrial cancer patients: comparing SPECT/CT, gamma-probe and dye.

Objective: The aim of this study was to compare preoperative SPECT/CT with gamma-probe and methylene blue-dye (MBD) in the identification of sentinel lymph node (SLN) in early stage endometrial cancer.

Methods: 40 stage-I EC patients (66.7 ± 9.

The contribution of a collagen-fibrin patch (Tachosil) to prevent the postoperative lymphatic complications after groin lymphadenectomy: a double institution observational study.

Objective: Postoperative morbidity associated with groin lymphadenectomy remain high and still represents a major concern for this patients. The aim of this study was to confirm the efficacy of TachoSil(®) in preventing postoperative complications after inguinofemoral lymphadenectomy for gynecological malignancy.

Study Design: An observational study was conducted to evaluate the incidence of postoperative complications among 49 patients (TachoSil(®) group=24; control group=25) underwent groin dissection enrolled in two Italian Department of Gynecology Oncology from 2011 to 2014.