Publications by authors named "Adele Demain"
Objective: The objective of this study was to investigate the relationships among subthalamic nucleus (STN) activity, gait initiation (GI), and freezing of gait (FOG) in patients with Parkinson's disease (PD).
Methods: We recorded GI and STN local field potentials (LFPs) via externalized cables in 38 patients with PD (35 reporting FOG in daily life), both OFF- and ON-dopamine (DOPA). GI was also recorded in 24 age-matched controls.
Article Synopsis
- The study investigates the effectiveness of cell-free DNA (cfDNA) testing for detecting fetal aneuploidies in women with triplet pregnancies, as current data is limited compared to singleton pregnancies.
- The research involved a retrospective analysis of 255 women who underwent cfDNA testing between 2017 and 2020, focusing primarily on trisomy 21 (T21) and secondarily on trisomy 18 (T18) and trisomy 13 (T13).
- Results indicated that cfDNA testing can serve as a primary screening tool for major fetal aneuploidies in triplet pregnancies, highlighting the importance of informed patient consent before proceeding with the test.
Wilson's disease (WD), a rare genetic disorder responsible for copper accumulation in the body, is fatal if left untreated. Although there are effective treatments, adherence to treatment tends to be low. We evaluated the medication adherence of 139 patients using the Morisky scale.
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- This study investigates the effectiveness of cell-free DNA (cfDNA) testing for detecting chromosomal abnormalities (trisomy 21, 18, and 13) in pregnant women with abnormal HCG and PAPP-A levels, indicating higher risks for complications.* -
- The analysis involved 477 women and showed that cfDNA testing had a 100% sensitivity and specificity for identifying trisomy 21, with other trisomies detected as well, contributing to its reliability as a screening tool.* -
- Additionally, the study aimed to assess cfDNA's role in predicting vascular complications during pregnancy, finding a few cases of hypertension among the participants.*
Article Synopsis
- - Recent studies hinted at a link between heparin treatment and non-reportable cell-free DNA (cfDNA) test results, but lacked solid methodology to prove this connection.
- - Researchers conducted a retrospective analysis of pregnancies with non-reportable cfDNA results and found that heparin treatment was present in only a small percentage, suggesting other factors were more influential.
- - In lab tests, heparin showed no effect on fetal DNA measurements, indicating it does not influence the accuracy of cfDNA screening for aneuploidies.
Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study.
Genet Med
November 2018
Article Synopsis
- Cell-free DNA (cfDNA) screening shows promising results compared to maternal serum screening (MSS), especially for pregnancies from assisted reproduction technologies (ART).
- In a study with 794 pregnancies, cfDNA had a false-positive rate of 0% and a positive predictive value of 100%, while MSS had higher false-positive rates, particularly in ART pregnancies.
- The findings indicate that cfDNA is more effective than MSS and could reduce the need for invasive procedures in all types of pregnancies, suggesting it should be the preferred primary screening method.
Antisaccades in Parkinson disease: A new marker of postural control?
Neurology
February 2017
Objective: To describe the relation between gaze and posture/gait control in Parkinson disease (PD) and to determine the role of the mesencephalic locomotor region (MLR) and cortex-MLR connection in saccadic behavior because this structure is a major area involved in both gait/postural control and gaze control networks.
Methods: We recruited 30 patients with PD with or without altered postural control and 25 age-matched healthy controls (HCs). We assessed gait, balance, and neuropsychological status and separately recorded gait initiation and eye movements (visually guided saccades and volitional antisaccades).
Gait and balance disorders are the major source of motor disabilities in advanced forms of Parkinson's disease (PD). Low-frequency stimulation of the pedunculopontine nucleus area (PPNa-DBS) has been recently proposed to treat these symptoms with variable clinical results. To further understand the effects of PPNa-DBS on resistant gait and balance disorders, we performed a randomised double-blind cross-over study in six PD patients.
View Article and Find Full Text PDFThe pathophysiology of gait and balance disorders in elderly people with 'higher level gait disorders' (HLGD) is poorly understood. In this study, we aimed to identify the brain networks involved in this disorder. Standardised clinical scores, biomechanical parameters of gait initiation and brain imaging data, including deep white matter lesions (DWML) and brain voxel-based morphometry analyses, were assessed in 20 HLGD patients in comparison to 20 age-matched controls.
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