Association of caffeine consumption with cerebrospinal fluid biomarkers in mild cognitive impairment and Alzheimer's disease: A BALTAZAR cohort study.

Introduction: We investigated the link between habitual caffeine intake with memory impairments and cerebrospinal fluid (CSF) biomarkers in mild cognitive impairment (MCI) and Alzheimer's disease (AD) patients.

Methods: MCI (N = 147) and AD (N = 116) patients of the Biomarker of AmyLoid pepTide and AlZheimer's diseAse Risk (BALTAZAR) cohort reported their caffeine intake at inclusion using a dedicated survey. Associations of caffeine consumption with memory impairments and CSF biomarkers (tau, p-tau181, amyloid beta 1-42 [Aβ], Aβ) were analyzed using logistic and analysis of covariance models.

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.

Desmin is a class III intermediate filament protein highly expressed in cardiac, smooth and striated muscle. Autosomal dominant or recessive mutations in the desmin gene () result in a variety of diseases, including cardiomyopathies and myofibrillar myopathy, collectively called desminopathies. Here we describe the clinical, histological and radiological features of a Greek patient with a myofibrillar myopathy and cardiomyopathy linked to the c.

Neural modulations in the auditory cortex during internal and external attention tasks: A single-patient intracranial recording study.

Brain sensory processing is not passive, but is rather modulated by our internal state. Different research methods such as non-invasive imaging methods and intracranial recording of the local field potential (LFP) have been used to study to what extent sensory processing and the auditory cortex in particular are modulated by selective attention. However, at the level of the single- or multi-units the selective attention in humans has not been tested.

Face-selective multi-unit activity in the proximity of the FFA modulated by facial expression stimuli.

When we see someone's face, our brain usually effortlessly extracts a variety of information such as facial identity, expression, or gaze direction. While it is widely accepted that dedicated subsystems are responsible for different aspects of face processing, how these subsystems work together is not yet fully understood. To this extent, one of the most explored questions is whether and if so, to what extent facial expression processing interacts with other stages of facial processing.

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.

Aim: KCNB1 encephalopathy encompasses a broad phenotypic spectrum associating intellectual disability, behavioral disturbances, and epilepsies of various severity. Using standardized parental questionnaires, we aimed to capture the heterogeneity of the adaptive and behavioral features in a series of patients with KCNB1 pathogenic variants.

Methods: We included 25 patients with a KCNB1 encephalopathy, aged from 3.

Sustained Tumor Control With MAPK Inhibition in V600-Mutant Adult Glial and Glioneuronal Tumors.

Objective: To assess whether RAF and MEK inhibitors (RAFi/MEKi) can provide long-term clinical benefit in adult patients with V600-mutant glial and glioneuronal tumors (GGNTs), we analyzed tumor response and long-term outcome in a retrospective cohort.

Methods: We performed a retrospective search in the institutional databases of 6 neuro-oncology departments for adult patients with recurrent or disseminated V600-mutant GGNTs treated with RAFi/MEKi.

Results: Twenty-eight adults with recurrent or disseminated V600-mutant gangliogliomas (n = 9), pleomorphic xanthoastrocytomas (n = 9), and diffuse gliomas (n = 10) were included in the study.

[Geriatric units at the beginning of the 2020 COVID-19 epidemic in France].

The COVID-19 epidemic that started in November in China became a national epidemic from March 16, 2020 with the declaration of population containment in order to reduce the spread of the virus in France. From March 17 to March 27, 2020, the monitoring unit of the French society of geriatrics and gerontology decided to conduct a survey to analyze the implementation of the mobilization of geriatric units, given that this epidemic had shown that it resulted in excess mortality mainly among the elderly. The survey was able to bring together the response of 34 services, nine of which were located in a high epidemic cluster zone.

Actionable FGFR1 and BRAF mutations in adult circumscribed gliomas.

Purpose: Circumscribed gliomas -pilocytic astrocytomas (PA), gangliogliomas (GG), ependymomas (EP)- are mostly low-grade tumours but may progress to anaplasia and sometimes surgery can be challenging due to deep anatomical localization. Because of the high frequency of MAPK-pathway alterations and availability of targeted therapies for FGFR1 and BRAF-mutated tumors, we investigated these mutational hotspots in a cohort of adult circumscribed gliomas.

Methods: Adult patients (>15 years) with diagnosis of PA, GG, EP and DNET were retrospectively identified from two institutions databases.

Management of severe asthma exacerbation: guidelines from the Société Française de Médecine d'Urgence, the Société de Réanimation de Langue Française and the French Group for Pediatric Intensive Care and Emergencies.

Background: The French Emergency Medicine Society, the French Intensive Care Society and the Pediatric Intensive Care and Emergency Medicine French-Speaking Group edited guidelines on severe asthma exacerbation (SAE) in adult and pediatric patients.

Results: The guidelines were related to 5 areas: diagnosis, pharmacological treatment, oxygen therapy and ventilation, patients triage, specific considerations regarding pregnant women. The literature analysis and formulation of the guidelines were conducted according to the Grade of Recommendation Assessment, Development and Evaluation methodology.

Long-term effectiveness and side effects of mandibular advancement devices on dental and skeletal parameters.

Introduction: Continuous positive airways pressure, generally used to treat obstructive sleep apnea-hypopnea syndrome (OSAHS), is not tolerated well by many patients. An alternative is to treat OSAHS with mandibular advancement devices (MAD). This research assesses the long term (> 2 years) effectiveness and the side effects on dental and skeletal parameters of these devices.

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing.

Pressure ulcers are associated with 6-month mortality in elderly patients with hip fracture managed in orthogeriatric care pathway.

Unlabelled: Despite orthogeriatric management, 12% of the elderly experienced PUs after hip fracture surgery. PUs were significantly associated with a low albumin level, history of atrial fibrillation coronary artery disease, and diabetes. The risk ratio of death at 6 months associated with pressure ulcer was 2.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients.

Isolated cardiac troponin rise does not modify the prognosis in elderly patients with hip fracture.

Perioperative myocardial infarction remains a life-threatening complication in noncardiac surgery and even an isolated troponin rise (ITR) is associated with significant mortality. Our aim was to assess the prognostic value of ITR in elderly patients with hip fracture.In this cohort study, all patients admitted between 2009 and 2013 in our dedicated geriatric postoperative unit after hip fracture surgery with a cardiac troponin I determination were included and divided into Control, ITR, and acute coronary syndrome (ACS) groups.

Status epilepticus in patients with cirrhosis: How to avoid misdiagnosis in patients with hepatic encephalopathy.

Purpose: Status epilepticus (SE) in patients with cirrhosis is a rare but serious situation. Diagnosis may be difficult in emergency presentation, especially when patients present with hepatic encephalopathy (HE). Misdiagnosis must be avoided since some anti-epileptic drugs aggravate HE.

Association between Cognitive Status before Surgery and Outcomes in Elderly Patients with Hip Fracture in a Dedicated Orthogeriatric Care Pathway.

Background: Dementia is associated with a worse prognosis of hip fracture, but the impact of a dedicated geriatric care pathway on the prognosis of these patients has not been evaluated.

Objective: According to the cognitive status before surgery, our main objective was to compare mortality rate at 6 months; secondary outcomes were to compare in-hospital complications, the risk of new institutionalization, and the ability to walk at 6 months.

Methods: Between 2009 and 2015, all patients (>70 years) admitted after hip fracture surgery into a dedicated unit of peri-operative geriatric care were included: patients with dementia (DP), without dementia (NDP), and with cognitive status not determined (CSND).

Characteristics of gliomas in patients with somatic IDH mosaicism.

IDH mutations are found in the majority of adult, diffuse, low-grade and anaplastic gliomas and are also frequently found in cartilaginous tumors. Ollier disease and Maffucci syndrome are two enchondromatosis syndromes characterized by the development of multiple benign cartilaginous tumors due to post-zygotic acquisition of IDH mutations. In addition to skeletal tumors, enchondromatosis patients sometimes develop gliomas.

Copeptin improves the sensitivity of cardiac troponin in patients 70 years or older, but not enough to rule out myocardial infarction at emergency department presentation.

Objectives: We aimed to evaluate the diagnostic performance of the combination of cardiac troponin (cTn) and copeptin in a population older than 70 years of age to rule out non-ST-elevation myocardial infarction (NSTEMI) at emergency department (ED) presentation.

Methods: Among 885 analyzed patients with acute chest pain presenting to the ED, 218 (25%) were aged at least 70 years.

Results: Patients with elevated copeptin values at presentation were more often aged at least 70 years and had higher blood pressure.

Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study.

Background: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disease due to PHOX2B mutations. CCHS patients suffer from many autonomic disorders, dominated clinically by defective ventilatory automatisms. From birth, the life of CCHS patients depends on ventilatory support during sleep, involving a high burden of care.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Objective: Mutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heterogeneous phenotypes of which Bethlem myopathy (BM) represents the milder end of the spectrum. Genotype-phenotype correlations and long-term follow-up description in BM remain scarce.

Methods: We retrospectively evaluated the long-term clinical evolution, and genotype-phenotype correlations in 35 genetically identified BM patients (23 index cases).

Postoperative admission to a dedicated geriatric unit decreases mortality in elderly patients with hip fracture.

Background: Elderly patients with hip fracture have a 5 to 8 fold increased risk of death during the months following surgery. We tested the hypothesis that early geriatric management of these patients focused on co-morbidities and rehabilitation improved long term mortality.

Methods And Findings: In a cohort study over a 6 year period, we compared patients aged >70 years with hip fracture admitted to orthopedic versus geriatric departments in a time series analysis corresponding to the creation of a dedicated geriatric unit.