Elements of Return-to-Work Interventions for Workers on Long-Term Sick Leave: A Systematic Literature Review.

Purpose: The aim of this systematic review is to identify vocational rehabilitation (VR) interventions that are effective to enhance return-to-work (RTW) for people on long-term sick leave (> 90 days) and to identify main elements of these interventions.

Methods: Six electronic databases were searched for peer-reviewed studies published up to February 2022. Each article was screened independently by two different reviewers.

Tailored vocational rehabilitation for people with a work disability pension in The Netherlands; an in-depth data analysis of the content and outcomes of vocational rehabilitation trajectories of the Social Security Institute.

Purpose: People with a work disability pension receive vocational rehabilitation (VR) services from the Dutch Social Security Institute (SSI) in order to facilitate return-to-work (RTW). The SSI offers tailored VR existing of two trajectories (aimed at getting fit for work or aimed at returning to work). The purpose of this study is to describe the current practice of VR.

Altered attentional processing of facial expression features in severe alcohol use disorder: An eye-tracking study.

Social cognition impairments, and notably emotional facial expression (EFE) recognition difficulties, as well as their functional and clinical correlates, are increasingly documented in severe alcohol use disorder (SAUD). However, insights into their underlying mechanisms are lacking. Here, we tested if SAUD was associated with alterations in the attentional processing of EFEs.

A Decision Aid to Support Vocational Rehabilitation Professionals Offering Tailored Care to Benefit Recipients with a Long-Term Work Disability: A Feasibility Study.

Purpose: This feasibility study focusses on the implementation and use of a decision aid, which supports vocational rehabilitation (VR) professionals in helping clients with a disability pension return to work in practice. The decision aid shows an overview of the clients' return to work barriers and suggests suitable VR interventions based on these barriers.

Methods: The study population consisted of VR professionals working at the Dutch Social Security Institute and their clients receiving a (partial) work disability pension.

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macrocephaly (IDDAM), the syndrome caused by pathogenic variants in CHD8, consists of a broad range of phenotypic abnormalities. We collected and reviewed 106 individuals with IDDAM, including 36 individuals not previously published, thus enabling thorough genotype-phenotype analyses, involving the CHD8 mutation spectrum, characterization of the CHD8 DNA methylation episignature, and the systematic analysis of phenotypes collected in Human Phenotype Ontology (HPO).

Return to work factors and vocational rehabilitation interventions for long-term, partially disabled workers: a modified Delphi study among vocational rehabilitation professionals.

Background: Long-term disability has a great impact on both society and workers with disabilities. Little is known about the barriers which prohibit workers with long-term disabilities from returning to work and which interventions are best suited to counteract these barriers. The main purpose of this study was to obtain consensus among professionals on important return to work (RTW) factors and effective vocational rehabilitation (VR) interventions for long-term (> 2 years), partially disabled workers.

Magnocellular and Parvocellular Mediated Luminance Contrast Discrimination in Severe Alcohol Use Disorder.

Background: Severe alcohol use disorder (SAUD) is associated with widespread cognitive impairments, including low-level visual processing deficits that persist after prolonged abstinence. However, the extent and characteristics of these visual deficits remain largely undetermined, impeding the identification of their underlying mechanisms and influence on higher-order processing. In particular, little work has been conducted to assess the integrity of the magnocellular (MC) and parvocellular (PC) visual pathways, namely the 2 main visual streams that convey information from the retina up to striate, extrastriate, and dorsal/ventral cerebral regions.

Metadehumanization in severe alcohol-use disorders: Links with fundamental needs and clinical outcomes.

Background: Dehumanization, i.e., the denial of one's humanity, has important consequences for social interactions.

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Background: Neuromuscular disorders (NMDs) are clinically and genetically heterogeneous. Accurate molecular genetic diagnosis can improve clinical management, provides appropriate genetic counseling and testing of relatives, and allows potential therapeutic trials.

Objective: To establish the clinical utility of panel-based whole exome sequencing (WES) in NMDs in a population with children and adults with various neuromuscular symptoms.

Electronic Health Program to Empower Patients in Returning to Normal Activities After Colorectal Surgical Procedures: Mixed-Methods Process Evaluation Alongside a Randomized Controlled Trial.

Background: Long-term recovery takes longer than expected despite improved surgical techniques and Enhanced Recovery After Surgery programs. An electronic health (eHealth) care program ("ikherstel") was developed to partially substitute perioperative care for patients undergoing colorectal surgical procedures. Successfully tested eHealth programs are not always implemented in usual care, and it is, therefore, important to evaluate the process to optimize future implementation.

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study.

Background And Purpose: We present the largest case series to date on basiocciput abnormalities in CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and/or deafness). We aimed to show that basiocciput abnormalities are common and may aid in diagnosis. We furthermore explored whether clivus size correlates with the type of chromodomain-helicase-DNA binding protein 7 gene () mutation, which causes CHARGE syndrome, and with clinical criteria according to Blake et al and Verloes.

Guidelines in CHARGE syndrome and the missing link: Cranial imaging.

"CHARGE syndrome" is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. Here we perform a structured literature review to examine all the existing advice.

Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of from the Embryonic Mid-Hindbrain Region.

Reduced fibroblast growth factor (FGF) signaling from the mid-hindbrain or isthmus organizer (IsO) during early embryonic development results in hypoplasia of the midbrain and cerebellar vermis. We previously reported evidence for reduced expression and FGF signaling in the mid-hindbrain region of embryos heterozygous for , the gene mutated in CHARGE (Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genitourinary anomalies and Ear defects) syndrome. However, animals only exhibit mild cerebellar vermis anomalies.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who lack a FLNA mutation. We previously also described a patient with a de novo variant in TAB2, which we hypothesized was causative of another form of AD-FMD.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensive. In this study, we evaluate the diagnostic utility of whole-exome sequencing (WES) targeting a panel of HI-related genes.

Acceleration bias in visually perceived velocity change and effects of Parkinson's bradykinesia.

In Parkinson's disease (PD), basal ganglia dysfunction leads to disturbed sensorimotor integration and associated timing. Previous functional MRI and behavioural PD studies on timing indicated a specific striatal contribution to assessing spatial displacement in velocity estimation. In this computation, cerebral processing time implies demarcating discrete intervals of spatial change.

Osteoporosis follow-up after wrist fractures following minor trauma.

Background: Patients presenting with low-trauma wrist fractures are an ideal target population for early case finding of osteoporosis. We decided to investigate whether this early detection occurred in practice.

Methods: This study was conducted at a single center in Edmonton, Alberta.

Blues and depression during early puerperium: home versus hospital deliveries.

Objective: To investigate whether women who give birth at home are less prone to mood disturbances during the early puerperium than those who give birth in hospital.

Design: A prospective study of 303 pregnant women who registered for antenatal care.

Setting: The antenatal clinic at St Joseph's Hospital, Veldhoven, The Netherlands, and five antenatal consultation programmes of local midwives working in the surrounding region.

Membership of a patients' association and well-being. A study into the relationship between membership of a patients' association, fellow-patient contact, information received, and psychosocial well-being of people with a neuromuscular disease.

This article presents the results of a study into the relationship between membership of a patients' association, information received, fellow-patient contact and psychosocial well-being. Data were collected from a group of people with myotonic dystrophy and spinal muscular atrophy (n = 349). About 60% of this group are members of a patients' association for people with a neuromuscular disease.

Prevalence of post partum depression--or is it post-puerperium depression?

In a longitudinal study, the prevalence of post partum depression was investigated in 293 women. They were assessed during gestation at 32 weeks, and consecutively after parturition with an interval of six weeks from four weeks until 34 weeks' post partum. The prevalence of post partum depression (RDC) varied between seven and 14%, with a peak at ten weeks' post partum.

[Incidence of postpartum thyroid function disorders in The Netherlands].

In a longitudinal study the incidence of postpartum thyroid dysfunction in the Netherlands was investigated in an unselected open population. There were 293 women who were screened by repeated assessments of thyroid function until 34 weeks postpartum at 6-week intervals. Thyroid dysfunction was defined as abnormal TSH values accompanied by abnormal FT4 and (or) FT3 values.