Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

"Together is no longer completely together": Exploring the influence of social cognition problems on partner relationships following acquired brain injury.

Objective: To examine the experiences of individuals with acquired brain injury and their partners regarding the effects of social cognition problems on their relationships.

Design: Qualitative interview study.

Setting: Interviews were conducted 1 to 5 years post-injury, either in the participants' home or at a care facility in the Netherlands.

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Kleefstra syndrome (KLEFS) is a genetic neurodevelopmental disorder caused by haploinsufficiency of EHMT1. The full spectrum of clinical features and genotype-phenotype correlations is currently not fully understood. We performed a retrospective chart review of patients with KLEFS evaluated at the Boston Children's Hospital Kleefstra Clinic.

Cognition and behavior in adults with neurofibromatosis type 1.

Background: Neurofibromatosis Type 1 (NF1) is a congenital neurocutaneous disorder. As NF1 is incurable and presents with a wide range of physical and mental symptoms, knowledge of neurocognitive and behavioral functioning can be an important aid in understanding their functional impact, and developing treatment options. To date, studies in children with NF1 have shown dysfunction in several domains, but much less is known about cognition and behavior in adults with NF1.

The effects of previous detoxifications on intelligence, speed, attention, and executive functioning in patients with moderate to severe alcohol use disorder.

Introduction And Aims: Repeatedly undergoing supervised, medical, detoxification from chronic alcohol use may contribute to impairments in neurocognitive functioning of patients with an alcohol use disorder (AUD). Unsupervised, non-medical, detoxification, however, may also contribute to neurocognitive impairments, given the absence of first choice prescription medication to counteract severe withdrawal effects. So far, findings from previous studies are inconclusive and specifically effects of non-medical detoxifications are not investigated yet.

Comparison of overall survival and healthcare resource utilization among patients with major depressive disorder with or without psychiatric emergency admission: A real-world study from Hungary.

Background: Patients with major depressive disorder (MDD) hospitalized for psychiatric emergencies (PE) represent a high-risk population, requiring immediate intervention. Overall survival and healthcare resource utilization were evaluated among MDD patients with PE (MDD-PE) vs without PE (MDD-nonPE) using data from the Hungarian National Health Insurance Fund database (2009 to 2020).

Methods: Patients with MDD were selected if they had at least (i) 2 records of MDD diagnosis, or (ii) 1 record of MDD diagnosis and 1 prescription of antidepressant within 90 days of each other between 01 January 2010 and 31 December 2020.

White matter integrity and cognitive performance in the subacute phase after ischemic stroke in young adults.

Introduction: Reduced white matter integrity outside the stroke lesion may be a potential contributor of post-stroke cognitive impairment. We aimed to investigate how a stroke lesion affects the integrity of surrounding white matter, and whether the integrity of the non-lesioned part of white matter tracts is associated with cognitive performance after ischemic stroke in young adults.

Methods: Patients from the ODYSSEY study, aged 18-49 years, with a first-ever ischemic stroke, underwent 3T MRI and cognitive assessment within six months after the index event.

Still Higher Risk for Burnout and Low Work Engagement Among Female Residents After 10 Years of Demographic Feminisation.

Objectives: We explored whether gender differences in burnout and work engagement characteristics among residents changed after the representation of female physicians has surpassed the 30% threshold of critical mass between 2005 and 2015, as well as if these gender differences are influenced by working in a surgical versus a non-surgical specialty.

Methods: This study used data of two questionnaire surveys on the well-being of Dutch residents, collected in 2005 ( = 2115) and 2015 ( = 1231). Burnout was measured with the validated Dutch translation of the Maslach Burnout Inventory, covering the characteristics emotional exhaustion, depersonalisation and personal accomplishment.

Living less safely through the pandemic in England for people with serious mental and physical health conditions: qualitative interviews with service users and carers of Black African, Caribbean, and South-Asian descent.

Background: COVID-19 Ethnic Inequalities in Mental health and Multimorbidities (COVEIMM) is a mixed methods study to explore whether COVID-19 exacerbated ethnic health inequalities in adults with serious mental and physical health conditions. We analysed data from electronic health records for England and conducted interviews in Birmingham and Solihull, Manchester, and South London. Sites were selected because they were pilot sites for the Patient and Carer Race Equality Framework being introduced by NHS England to tackle race inequalities in mental health.

Depressive symptoms, avoidant coping, and alcohol use: differences based on gender and posttraumatic stress disorder in emerging adults.

Trauma exposure and alcohol use often co-occur. Unveiling predictors of drinking behavior, including among those with varying levels of trauma exposure, can inform behavioral health prevention and treatment efforts in at-risk populations. The current study examined associations between depressive symptoms, avoidant coping, gender, and alcohol use among emerging adults with and without trauma exposure and posttraumatic stress disorder (PTSD).

Mortality in patients with major depressive disorder: A nationwide population-based cohort study with 11-year follow-up.

Background: Major depressive disorder (MDD) is a leading cause of disability and premature mortality. This study compared the overall survival (OS) between patients with MDD and non-MDD controls stratified by gender, age, and comorbidities.

Methods: This nationwide population-based cohort study utilized longitudinal patient data (01/01/2010 - 12/31/2020) from the Hungarian National Health Insurance Fund database, which contains healthcare service data for the Hungarian population.

Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes.

Kleefstra syndrome (KLEFS1) is a rare genetic neurodevelopmental disorder affecting multiple body systems. It continues to be under-researched, and its prevalence remains unknown. This paper builds on the international KLEFS1 cohort of 172 individuals based on the caregiver-reported outcomes collected within the online data collection platform GenIDA and reports the occurrence, frequency and severity of symptoms in KLEFS1.

Understanding mental health help-seeking and stigma among Hungarian adults: A network perspective.

Background: Hungarians exhibit more negative attitudes toward help-seeking for mental health problems compared to other European countries. However, research on help-seeking in Hungary is limited, and it is unclear how stigma relates to help-seeking when considering demographic and clinical characteristics. We used a network analytic approach to simulate a stigma model using hypothesized constructs in a sizable sample of Hungarian adults.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHMT1 encodes euchromatic histone methyltransferase-1-a pivotal component of the epigenetic machinery.

The role of oxidative stress in the pathomechanism of major mood disorders: a narrative review with a special focus on uric acid.

Major mood disorder (i.e. major depressive disorder [MDD] and bipolar disorders [BPDs]) are among the most prevalent and disabling mental illnesses.

Early-Stage Alzheimer's Disease Affects Fast But Not Slow Adaptive Processes in Motor Learning.

Alzheimer's disease (AD) is characterized by an initial decline in declarative memory, while nondeclarative memory processing remains relatively intact. Error-based motor adaptation is traditionally seen as a form of nondeclarative memory, but recent findings suggest that it involves both fast, declarative, and slow, nondeclarative adaptive processes. If the declarative memory system shares resources with the fast process in motor adaptation, it can be hypothesized that the fast, but not the slow, process is disturbed in AD patients.