Publications by authors named "Anne Richard"
Input of exome sequencing in early-onset cerebral amyloid angiopathy.
Alzheimers Dement (Amst)
November 2024
Article Synopsis
- The study explores the genetics of cerebral amyloid angiopathy (CAA), which is not widely researched and can impact the understanding of Alzheimer's disease (AD).
- Researchers conducted exome sequencing on 78 patients diagnosed with early-onset CAA, finding notable genetic variants, including pathogenic NOTCH3 mutations in two patients related to CADASIL, a rare vascular condition.
- The findings suggest that there are shared genetic factors between AD and CAA beyond just the APOE gene, with potential susceptibility linked to other rare genetic variants in various risk factor genes.
After several years of downturn in new resettlement, the United States is projected to admit 125,000 refugees in the current fiscal year. Refugee communities have known risks of developing mental health problems due to high rates of exposure to war and conflict-related trauma and chronic stressors associated with displacement and resettlement. In this commentary, we examine limitations in the current system of mental health care available to newly arriving refugee communities and make recommendations for expanding and redesigning services to better meet the needs of culturally diverse refugee communities.
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- Researchers conducted whole-exome and whole-genome sequencing on nearly 3,000 Alzheimer’s disease cases and controls from France to investigate genetic associations.
- They found significant links between early-onset Alzheimer’s (EOAD) risk and rare variants in three specific genes: SORL1, TREM2, and ABCA7, but not in late-onset Alzheimer’s (LOAD).
- The study reaffirmed previous findings on these genes and highlighted that variations in TREM2, SORL1, and ABCA7 each explain a small portion (1.1% to 1.5%) of EOAD heritability, much less than the substantial impact of the APOE ε4 variant (9.12
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Am J Med Genet B Neuropsychiatr Genet
April 2016
The proline dehydrogenase (PRODH) gene maps to 22q11.2 in the region deleted in the velo-cardio-facial syndrome (VCFS). A moderate to severe reduction (>50%) in PRODH activity resulting from recessive deletions and/or missense mutations has been shown to cause type 1 hyperprolinemia (HPI).
View Article and Find Full Text PDFUnlabelled: There are no specific studies evaluating the benefit/risk of antithrombotic prophylactic treatment in patients hospitalised in a palliative care unit. So, the aim of this study was to evaluate the clinicians attitudes about antithrombotic prophylaxis for patients in palliative care units and the elements which determined their decisions.
Methods: The clinical data of 4 terminally ill patients were extracted from database of a Palliative Care Unit in France.
[Standards, options and recommendations for the use of medical analgesics for the treatment of pain arising from excess nociception in adults with cancer (update 2002): opioid analgesics with the exception of morphine by mouth and the rotation].
Bull Cancer
December 2003
Context: The "Standards, Options and Recommendations" (SOR) project, started in 1993, is a collaboration between the federation of French Cancer Centers (FNCLCC), the 20 French cancer centers, and specialists from French public universities, general hospitals and private clinics. The main objective is the development of clinical practice guidelines to improve the quality of health care and the outcome of cancer patients. The methodology is based on a literature review and critical appraisal by a multidisciplinary group of experts, with feedback from specialists in cancer care delivery.
View Article and Find Full Text PDF[Standards, options and recommendations for the use of medical analgesics for the treatment of pain arising from excess nociception in adults with cancer (update 2002)].
Bull Cancer
December 2002
Context: The "Standards, Options and Recommendations" (SOR) project, started in 1993, is a collaboration between the Federation of french cancer centers (FNCLCC), the 20 French cancer centers, and specialists from French public universities, general hospitals and private clinics. The main objective is the development of clinical practice guidelines to improve the quality of health care and the outcome of cancer patients. The methodology is based on a literature review and critical appraisal by a multidisciplinary group of experts, with feedback from specialists in cancer care delivery.
View Article and Find Full Text PDFObjectives: The primary objectives were to evaluate the acceptability in France of the Quebec Back Pain Disability Scale (QBPDS) in its original French-language version and to study its correlational validity against indicators of impairment, pain, disability, psychological status, and perceived health status.
Material And Methods: Thirty-two patients with chronic low back pain were recruited at the rheumatology outpatient clinic of a French hospital. A physical examination was performed for determination of an impairment score, and scales were completed for pain (visual analog scale and Saint-Antoine Questionnaire), disability (QBPDS and Dallas Scale [DS]), perceived health status (Nottingham Health Profile, NHP), and psychological status (Hospital Anxiety and Depression Scale, HADS).