Search results for "current"
showing 10 items of 2224 documents
The impact of the Eurofever criteria and the new Infevers MEFV classification in real life: results from a large international FMF cohort
2022
INTRODUCTION: New Eurofever/PRINTO classification criteria (EPCC) for Familial Mediterranean Fever (FMF) and other recurrent fevers have been recently developed, together with the classification of the pathogenicity of MEFV variants. OBJECTIVES: To evaluate the impact in real life of both the EPCC and INSAID pathogenicity classification of MEFV variants in the large international Eurofever FMF cohort. METHODS: Baseline demographic, genetic and clinical data of FMF patients included in the Eurofever registry were evaluated. The EPCC and the 2018 INSAID classification for MEFV variants were applied in all eligible FMF patients. RESULTS: Since November 2009, clinical information was available …
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation
2018
IF 2.264; International audience; Pierpont syndrome is a rare and sporadic syndrome, including developmental delay, facial characteristics, and abnormal extremities. Recently, a recurrent de novo TBL1XR1 variant (c.1337A > G; p.Tyr446Cys) has been identified in eight patients by whole‐exome sequencing. A dominant‐negative effect of this mutation is strongly suspected, since patients with TBL1XR1 deletion and other variants predicting loss of function do not share the same phenotype. We report two patients with typical Pierpont‐like syndrome features. Exome sequencing allowed identifying a de novo heterozygous missense TBL1XR1 variant in both patients, different from those already reported: …
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
2018
BACKGROUND: Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares. METHODS: We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks. Patients who did not have a resolution of their flare received an add-on injection of 150 mg of canakinumab. The primary outcome was complete response (resolution…
Anodal tDCS of the swallowing motor cortex for treatment of dysphagia in multiple sclerosis: a pilot open-label study
2017
Swallowing difficulties are a common symptom of multiple sclerosis (MS). The early detection and treatment of dysphagia is critical to prevent complications, including poor nutrition, dehydration, and lung infections. Recently, transcranial direct current stimulation (tDCS) has been proven to be effective in ameliorating swallowing problems in stroke patients. In this pilot study, we aimed to assess safety and efficacy of transcranial direct current stimulation (tDCS) in the treatment of dysphagia in MS patients. We screened 30 patients by using the 10-item DYsphagia in MUltiple Sclerosis (DYMUS) questionnaire, and patients at risk for dysphagia underwent a clinical and fiberoptic endoscopi…
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient
2021
Synchronous primary malignancies occur in a small proportion of head and neck squamous cell carcinoma (HNSCC) patients. Here, we analysed three synchronous primaries and a recurrence from one patient by comparing the genomic and transcriptomic profiles among the tumour samples and determining the recurrence origin. We found remarkable levels of heterogeneity among the primary tumours, and through the patterns of shared mutations, we traced the origin of the recurrence. Interestingly, the patient carried germline variants that might have predisposed him to carcinogenesis, together with a history of alcohol and tobacco consumption. The mutational signature analysis confirmed the impact of alc…
Clinical application of embryo aneuploidy testing by next-generation sequencing
2019
Abstract We review here the evolution in the field of embryo aneuploidy testing over the last 20 years, from the analysis of a subset of chromosomes by fluorescence in situ hybridisation to the transition toward a more comprehensive analysis of all 24 chromosomes. This current comprehensive aneuploidy testing most commonly employs next-generation sequencing (NGS). We present our experience in over 130 000 embryo biopsies using this technology. The incidence of aneuploidy was lower in trophectoderm biopsies compared to cleavage-stage biopsies. We also confirmed by NGS that embryo aneuploidy rates increased with increasing maternal age, mostly attributable to an increase in complex aneuploid …
Reliability and validity of the Finnish version of the motor observation questionnaire for teachers.
2017
Objectives: Observational screening instruments are often used as an effective, economical first step in the identification of children with Developmental Coordination Disorder (DCD). The aim was to investigate the psychometric properties of the Finnish version of the Motor Observation Questionnaire for Teachers (MOQ-T-FI).Methods: The psychometric properties were tested using two separate samples (S1: age range 6-12, M 9y 5mo, females 101, males 92; S2: age range 6-9, M 7y 7mo, females 404, males 446). Teachers completed the MOQ-T-Fl in both samples, and in sample 2 teachers' ratings were compared to student's performance on the Movement Assessment Battery for Children-Second Edition (MABC…
Interactive effects of internalizing and externalizing problem behaviors on recurrent pain in children
2002
Objective: To examine, in children, relationships between self-reported recurrent pain and emotion regulation indicated by rated internalizing and externalizing problem behaviors and adjustment. Method: Finnish 11-12-year-old schoolchildren (N = 414) completed a questionnaire measuring recurrent pain. Emotion regulation was assessed by a Multidimensional Peer Nomination Inventory, Teacher Rating Form. Relationships between recurrent pain and emotion regulation were examined in logistic regression analyses, after controlling for past injuries and chronic illnesses. Results: Independent of injuries and chronic illnesses, externalizing and internalizing problem behaviors related to recurrent p…
Validity of Hip-worn Inertial Measurement Unit Compared to Jump Mat for Jump Height Measurement in Adolescents
2018
Jump tests assess lower body power production capacity, and can be used to evaluate athletic ability and development during growth. Wearable inertial measurement units (IMU) seem to offer a feasible alternative to laboratory-based equipment for jump height assessments. Concurrent validity of these devices for jump height assessments has only been established in adults. Therefore, the purpose of this study was to evaluate the concurrent validity of IMU-based jump height estimate compared to contact mat-based jump height estimate in adolescents. Ninety-five adolescents (10-13 years-of-age; girls N = 41, height = 154 (SD 9) cm, weight = 44 (11) kg; boys N = 54, height = 156 (10) cm, weight = 4…
Ileal Melanoma, A Rare Cause of Small Bowel Obstruction: Report of a Case, and Short Literature Review.
2020
Background: Malignant melanoma frequently spreads to the gastrointestinal tract, with 60% of patients with advanced metastatic disease showing digestive involvement; however, primary MM of the small intestine is a controversial diagnosis. In fact, whether these lesions arise as true small bowel primary neoplasms or represent metastases from unidentified cutaneous melanomas remains debatable. The most common complications are intestinal obstruction, massive gastrointestinal bleeding, and perforation. Objective & Methods: We report a case of a 64-year-old patient, with an unremarkable medical history, in which a late diagnosis of primary ileal malignant melanoma in the setting of an emer…