Daily cigarette smoking among inpatients for substance use disorders in France, 2010-2020: Commonalities and specificities across substances.

Introduction: This study aims to estimate the prevalence and factors associated with cigarette smoking among patients in treatment for substance use disorders (SUD) in France.

Methods: We analyze a nation-wide dataset retrieving information on patients entering treatment for alcohol, opioid and stimulant use disorders between 2010 and 2020. We conduct multilevel Poisson regressions to determine the main factors associated with daily cigarette smoking among all patients who entered treatment for alcohol (n=607122), opioid (n=283381) or stimulant (n=57189) use disorders, and zero-truncated negative-binomial regressions to predict the average number of cigarettes per day.

The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap.

In recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases. In this Review, we outline the concept of N-of-1 individualized therapies, focusing on genetic therapies, and illustrate advances and challenges in the field using cases for which therapies have been successfully developed.

Prevention of Sunlight-Induced Cell Damage by Selective Blue-Violet-Light-Filtering Lenses in A2E-Loaded Retinal Pigment Epithelial Cells.

Blue light accelerates retinal aging. Previous studies have indicated that wavelengths between 400 and 455 nm are most harmful to aging retinal pigment epithelia (RPE). This study explored whether filtering these wavelengths can protect cells exposed to broad sunlight.

A gain of function variant in RGS18 candidate for a familial mild bleeding syndrome.

Background: Inherited platelet diseases are bleeding disorders characterized by either defects in platelet count or platelet function, the latter being less common and very heterogeneous. Numerous gene variants associated with abnormal receptors, granules, and signaling pathways have been reported. Despite significant advancements in our understanding, many patients still lack a precise diagnosis.

Autophagy and autophagic cell death in sepsis: friend or foe?

In sepsis, inflammation, and nutrient deficiencies endanger cellular homeostasis and survival. Autophagy is primarily a mechanism of cellular survival under fasting conditions. However, autophagy-dependent cell death, known as autophagic cell death, is proinflammatory and can exacerbate sepsis.

The reciprocal relation between rising longevity and temperature-related mortality risk in older people, Spain 1980-2018.

Temperature-related mortality mostly affects older people and is attributable to a combination of factors. We focussed on a key non-temperature factor - rising longevity - and aimed to quantify its reciprocal relation with temperature-related mortality risk in Spain over 1980-2018. We obtained average annual temperature-attributable deaths among people aged 65y+, by sex and age group, for different temperature ranges (extreme cold, moderate cold, moderate heat, and extreme heat), from a previous study.

Relevance of I-FP-CIT SPECT prescriptions for the diagnosis of parkinsonian syndromes.

I-FP-CIT SPECT enables the detection of presynaptic dopaminergic denervation. It allows to differentiate degenerative parkinsonian syndromes from secondary parkinsonian syndromes or essential tremor, and patients with suspected dementia with Lewy bodies from those with other dementia subtypes. The aim of our study was to evaluate the appropriateness of I-FP-CIT SPECT prescriptions, identify prescriber profiles and analyze changes in prescriptions over a decade in the Neurology department of Avicenne University hospital.

Ventilation strategies in cardiogenic shock: insights from the FRENSHOCK observational registry.

Background: Despite scarce data, invasive mechanical ventilation (MV) is widely suggested as first-line ventilatory support in cardiogenic shock (CS) patients. We assessed the real-life use of different ventilation strategies in CS and their influence on short and mid-term prognosis.

Methods: FRENSHOCK was a prospective registry including 772 CS patients from 49 centers in France.

3T-3D FLAIR MRI in Menière's disease: associated profiles with clinical symptoms and electroacoustic characteristics.

Purpose: Diagnosis of Menière's disease relies on clinical symptoms. Injected 3T MRI can show endolymphatic hydrops (EH), but correlation with the clinical status of MD, (probable -PMD or definite-DMD) remains doubtful. We revealed endolymphatic pressure disruption through functional exploration and verified if it was associated with an EH through MRI.

Optimising Paediatric HIV Treatment: Recent Developments and Future Directions.

Treatment options for children living with HIV have historically been less effective, less practical and more difficult to implement compared with those for adults, as the research and development of new drugs for children has lagged behind. Significant progress has been achieved in response to the paediatric HIV epidemic over the last decade. Several optimised paediatric antiretroviral formulations are currently available or in development, including fixed-dose combination tablets containing a complete World Health Organization-recommended regimen.

Successful prevention of BK-polyomavirus nephropathy using extracorporeal photopheresis for immunosuppression minimisation following severe BK polyomavirus replication after kidney transplantation in a double lung transplant recipient, a case report.

Background: BK-polyomavirus (BKpyV) nephropathy (BKVN) is associated with end-stage kidney disease in kidney and non-kidney solid organ transplantation, with no curative treatment.

Case Presentation: A 45-year-old woman with a past medical history of double lung transplantation subsequently developed end-stage kidney disease, of undetermined origin. One month after receiving a kidney transplant, a diagnosis of early BKVN was suspected, and in retrospect was a reasonable cause for the loss of her native kidneys.

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal.

Biallelic pathogenic variants in CNTNAP2, a gene encoding the contactin-associated protein-like 2, have been reported in patients with various clinical presentations including intellectual disability (ID), autistic spectrum disorders (ASD), psychiatric disorders, and focal epilepsy rarely associated to focal cortical dysplasia. We report four children carrying novel biallelic CNTNAP2 pathogenic variants. They present global developmental delay, psychiatric disorders, and focal epilepsy.

EMDR-Teens-cPTSD: Efficacy of Eye Movement Desensitization and Reprocessing in Adolescents with Complex PTSD Secondary to Childhood Abuse: A Case Series.

: Mental healthcare for children and adolescents with a history of childhood abuse constitutes a major public health issue. Indeed, abuse exposes children to severe and complex post-traumatic stress disorder (cPTSD) but also to neurodevelopmental and psychological repercussions impacting the developmental trajectory. Trauma-focused care is essential to avoid the chronicization of symptoms and disorders.

Auditory Rehabilitation in Single-Sided-Deafened Patients after Surgery to the Cerebellopontine Angle for Vestibular Schwannoma: What Is the Patient's Choice?

: Surgical resection of vestibular schwannomas (VS) can be responsible for single-sided deafness (SSD). Hearing restoration can be a challenge both for the otolaryngologist and the patient. : In a retrospective series, we analyzed the charts of SSD patients operated on for VS from 2005-2021, checking which type of hearing rehabilitation was chosen.

What a wonderful world!

The world of cancer science is moving toward a paradigm shift in making connections with neuroscience. After decades of research on genetic instability and mutations or on the tumor microenvironment, emerging evidence suggests that a malignant tumor is able to hijack and use the brain and its network of peripheral and central neurons as disrupters of homeostasis in the body. Whole-body homeostasis requires brain-body circuits to maintain survival and health via the processes of interoception, immunoception, and nociception.

Autism-Related Heterozygous Mice: Increased Levels of miRNAs Retained in DNA/RNA Hybrid Profiles (R-Loop).

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a highly variable expression of phenotypes (restricted interest or activity and repetitive behavior in communication and social interactions), genes (mutation), markers (alteration of transcription) and pathways. Loss of function of the gene appears to primarily affect the brain, leading to a range of behavioral problems in humans. In our study published in 2020, we found that the expressions of miR-19a-3p, miR-361-5p, miR-150-5p, miR-3613-3p, miR-126-3p and miR-499a-5p were downregulated in the serum samples of autistic patients, their families and mouse models ( +/- and valproic acid treated males).

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". Despite significant advances in genomic sequencing technologies, more than half of the patients with suspected Mendelian disorders remain undiagnosed.

Early childcare arrangements and children's internalizing and externalizing symptoms: an individual participant data meta-analysis of six prospective birth cohorts in Europe.

Background: Early childcare attendance may be related to children's internalizing and externalizing symptoms throughout childhood and young adolescence, however evidence from Europe is limited. We aimed to assess this association across multiple population-based birth cohorts of children recruited in different European countries.

Methods: Data come from six parent-offspring prospective birth cohort studies across five European countries within the EU Child Cohort Network.

Management of cardiogenic shock: state-of-the-art.

The management of cardiogenic shock is an ongoing challenge. Despite all efforts and tremendous use of resources, mortality remains high. Whilst reversing the underlying cause, restoring/maintaining organ perfusion and function are cornerstones of management.