CAG repeat mosaicism is gene specific in spinocerebellar ataxias.

Expanded CAG repeats in coding regions of different genes are the most common cause of dominantly inherited spinocerebellar ataxias (SCAs). These repeats are unstable through the germline, and larger repeats lead to earlier onset. We measured somatic expansion in blood samples collected from 30 SCA1, 50 SCA2, 74 SCA3, and 30 SCA7 individuals over a mean interval of 8.

Sonography-Guided Carpal Tunnel Release.

During the past 2 decades, increased powerful and quality ultrasound devices have contributed to developing ultrasound surgery more specifically for the hand. Carpal tunnel release under ultrasound now is available as a safe technique. The procedure uses a specific device.

Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.

GRN mutations are frequent causes of familial frontotemporal degeneration. Although there is no clear consensual threshold, plasma progranulin levels represent an efficient biomarker for predicting GRN mutations when decreased. We evaluated plasma levels to determine whether it could also predict age at onset, clinical phenotype, or disease progression in 160 GRN carriers.

Ultrasound-Guided de Quervain's Tendon Release, Feasibility, and First Outcomes.

 de Quervain's syndrome is one of the main tendonitis of the wrist. The hypothesis of authors was that de Quervain's syndrome could be successfully treated with a specific ultrasound-guided percutaneous procedure, as it is for trigger finger.  Identification of the subcompartmentalization of the first extensor compartment was performed first, using the Hiranuma's classification, prior to the surgery.

[Palliative care in a paediatric intrahospital mobile team].

Paediatric palliative care has been set up after extensive discussion and observations regarding the need to provide different support to children with a serious and incurable disease as well as their families. The mobile palliative care team support children and their family in this specific process and train caregivers in the palliative approach.

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.

Valosin-containing protein (VCP) mutations are rare causes of autosomal dominant frontotemporal dementias associated with Paget's disease of bone, inclusion body myopathy, and amyotrophic lateral sclerosis. We analyzed the VCP gene in a cohort of 199 patients with frontotemporal dementia and identified 7 heterozygous mutations in unrelated families, including 3 novel mutations segregating with dementia. This expands the VCP mutation spectrum and suggests that although VCP mutations are rare (3.

Acute skin reaction suggestive of pembrolizumab-induced radiosensitization.

The combination of localized radiotherapy and immune checkpoint inhibitors represents a promising therapeutic strategy for various cancers, including metastatic melanoma. Radiation therapy may enhance tumor antigen presentation and cytokine release, which may optimize the systemic antitumor immune response induced by these immunotherapeutic antibodies, with a potential delayed abscopal effect. However, clinical experience of using immune checkpoint inhibitors with concurrent radiotherapy remains scarce.

Adherence to guidelines in gynecologic cancer surgery.

The purpose of this study is to review the available evidence documenting the prognostic role of adherence to guidelines in gynecologic cancers. A systematic review of the PubMed database using "guideline," "adherence," and "cancer" was carried out on February 25, 2014. Two thousand one hundred twenty-three publications were identified.

Clinicians' expectations of Web 2.0 as a mechanism for knowledge transfer of stroke best practices.

Background: Health professionals are increasingly encouraged to adopt an evidence-based practice to ensure greater efficiency of their services. To promote this practice, several strategies exist: distribution of educational materials, local consensus processes, educational outreach visits, local opinion leaders, and reminders. Despite these strategies, gaps continue to be observed between practice and scientific evidence.

Retrospective analysis of local control and cosmetic outcome of 147 periorificial carcinomas of the face treated with low-dose rate interstitial brachytherapy.

Purpose: Skin cancer is the most common malignancy in white populations. We evaluated the local cure rate and cosmetic outcome of patients with basal cell carcinoma (BCC) or squamous cell carcinoma (SCC) of the face treated with low-dose rate brachytherapy.

Methods And Materials: Between February 1990 and May 2000, 147 facial carcinomas in 132 patients were treated by (192)Ir wire implantation.

Brachytherapy in lip carcinoma: long-term results.

Purpose: The aim of this study was to evaluate the effectiveness of low-dose-rate brachytherapy for local control and relapse-free survival in squamous cell and basal cell carcinomas of the lips. We compared two groups: one with tumors on the skin and the other with tumors on the lip.

Patients And Methods: All patients had been treated at Claudius Regaud Cancer Centre from 1990 to 2008 for squamous cell or basal cell carcinoma.

Coregistration of prechemotherapy PET-CT for planning pediatric Hodgkin's disease radiotherapy significantly diminishes interobserver variability of clinical target volume definition.

Purpose: To assess the interobserver variability in clinical target volume (CTV) definitions when using registered (18)F-labeled deoxyglucose positron emission tomography (FDG-PET-CT) versus side-by-side image sets in pediatric Hodgkin's disease (HD).

Methods And Materials: Prechemotherapy FDG-PET-CT scans performed in the treatment position were acquired from 20 children (median age, 14 years old) with HD (stages 2A to 4B) and registered with postchemotherapy planning CT scans. The patients had a median age of 14 years and stages of disease ranging between 2A and 4B.

Impact of radiation schedule and chemotherapy duration in definitive chemoradiotherapy regimen for esophageal cancer.

Unlabelled: Impact of radiotherapy (RT) schedule on local response and duration of the 5-fluorouracil/cisplatin (5 FU/CDDP) chemotherapy (CT) on m are still questioning in chemoradiotherapy (CRT) regimen in esophageal carcinoma.

Aim: Evaluate two RT schedules and two different CT durations by a retrospective comparison of the CRT regimens used by two centres between 1994 and 2000.

Methods: In centre I (regimen I), patients received 2 CT concomitantly to a continuous RT (50 Gy/25 fractions/5 weeks).

Predictive factors of survival in patients treated with definitive chemoradiotherapy for squamous cell esophageal carcinoma.

Aim: The aim of the study was to evaluate the predictive factors of survival in patients with locally advanced squamous cell esophageal carcinoma (LASCOC) treated with definitive chemoradiotherapy (CRT) regimen based on the 5FU/CDDP combination.

Methods: All patients with LASCOC treated with a definitive CRT using the 5FU/CDDP combination between 1994 and 2000 were retrospectively included. Clinical complete response (CCR) to CRT was assessed by esophageal endoscopy and CT-scan 2 mo after CRT completion.