External Validation of a Risk Score Model for Predicting Major Clinical Events in Adults After Atrial Switch.

Background: A risk model has been proposed to provide a patient individualized estimation of risk for major clinical events (heart failure events, ventricular arrhythmia, all-cause mortality) in patients with transposition of the great arteries and atrial switch surgery. We aimed to externally validate the model.

Methods And Results: A retrospective, multicentric, longitudinal cohort of 417 patients with transposition of the great arteries (median age, 24 years at baseline [interquartile range, 18-30]; 63% men) independent of the model development and internal validation cohort was studied.

The first -induced Guillain-Barré syndrome in Sudan.

Key Clinical Message: This case report highlights the role of infection in the development of GBS. Healthcare providers should consider .  in their differential diagnosis for patients with neurological syndromes.

The combination of manogepix and itraconazole is synergistic and inhibits the growth of Madurella mycetomatis in vitro but not in vivo.

Mycetoma is a neglected tropical disease commonly caused by the fungus Madurella mycetomatis. Standard treatment consists of extensive treatment with itraconazole in combination with surgical excision of the infected tissue, but has a low success rate. To improve treatment outcomes, novel treatment strategies are needed.

Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.

The increasing pace of gene discovery in the last decade has brought a major change in the way the genetic causes of brain malformations are being diagnosed. Unbiased genomic screening has gained the first place in the diagnostic protocol of a child with congenital (brain) anomalies and the detected variants are matched with the phenotypic presentation afterwards. This process is defined as "reverse phenotyping".

Biallelic Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia.

Objective: We aimed to identify pathogenic variants in a girl with epilepsy, developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities with the use of whole-exome sequencing.

Methods: Whole-exome trio analysis and molecular functional studies were performed in addition to the clinical findings and neuroimaging studies.

Results: Brain MRI showed mild pachygyria, hypoplasia of the cerebellar vermis, and abnormal foliation of the cerebellar vermis, suspected for a variant in one of the genes of the Reelin pathway.

Comparative effectiveness of surgery in traumatic acute subdural and intracerebral haematoma: study protocol for a prospective observational study within CENTER-TBI and Net-QuRe.

Introduction: Controversy exists about the optimal treatment for patients with a traumatic acute subdural haematoma (ASDH) and an intracerebral haematoma/contusion (t-ICH). Treatment varies largely between different regions. The effect of this practice variation on patient outcome is unknown.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis. Children from 12 unrelated families presented with microcephaly, simplified gyral pattern of the cortex, hypomyelination, cerebellar hypoplasia, congenital arthrogryposis, and early fetal/postnatal demise. Genomic analysis revealed bi-allelic loss-of-function variants in SMPD4, coding for the neutral sphingomyelinase-3 (nSMase-3/SMPD4).

Social inequalities and dental caries in six-year-old children from the Netherlands.

Objectives: The purpose of our study was to investigate the association of different socioeconomic and sociodemographic factors with dental caries in six-year-old children. Furthermore, we applied a district based approach to explore the distribution of dental caries among districts of low and high socioeconomic position (SEP).

Methods: In our cross-sectional study 5189 six-year-olds were included.

Malignant pleural mesothelioma with lacrimal gland metastasis.

Purpose: To describe a rare clinical case of biopsy-proven metastatic mesothelioma of the lacrimal gland which responded well to chemo and radiation therapy.

Methods: Interventional case report.

Results: A 55-year-old woman with an untreated malignant biopsy-proven pleural mesothelioma presented with right proptosis, diplopia and hypoglobus.

β-Amyloid Precursor Protein and Ubiquitin Immunohistochemistry Aid in the Evaluation of Infant Autopsy Eyes With Abusive Head Trauma.

Purpose: To investigate β-amyloid precursor protein (β-APP), ubiquitin, and glial fibrillary acid protein (GFAP) immunostaining as a diagnostic tool to aid in the discrimination between abusive head trauma and nonabusive head trauma in postmortem ocular histopathologic investigation.

Design: Retrospective cross-sectional study.

Methods: Seventy-four eyes of 37 infants were studied for hemorrhage and immunohistochemical expression of β-APP, ubiquitin, and GFAP in the retina and optic nerve.

The effect of participatory women's groups on infant feeding and child health knowledge, behaviour and outcomes in rural Bangladesh: a controlled before-and-after study.

Background: Despite efforts to reduce under-5 mortality rates worldwide, an estimated 6.6 million under-5 children die every year. Community mobilisation through participatory women's groups has been shown to improve maternal and newborn health in rural settings, but little is known about the potential of this approach to improve care and health in children after the newborn period.

The ethical desirability of moral bioenhancement: a review of reasons.

Background: The debate on the ethical aspects of moral bioenhancement focuses on the desirability of using biomedical as opposed to traditional means to achieve moral betterment. The aim of this paper is to systematically review the ethical reasons presented in the literature for and against moral bioenhancement.

Discussion: A review was performed and resulted in the inclusion of 85 articles.

Secular trend of dental development in Dutch children.

Many studies have established dental age standards for different populations; however, very few studies have investigated whether dental development is stable over time on a population level. Therefore, the aim of this study was to analyze changes in dental maturity in Dutch children born between 1961 and 2004. We used 2,655 dental panoramic radiographs of 2- to 16-year-old Dutch children from studies performed in three major cities in the Netherlands.

Trends in incidence and predictions of cutaneous melanoma across Europe up to 2015.

Background: Melanoma is a significant health problem in Caucasian populations. The most recently available data from cancer registries often have a delay of several months up to a few years and they are generally not easily accessible.

Objectives: To assess recent age- and sex-specific trends in melanoma incidence and make predictions for 2010 and 2015.

Functional outcome at 2.5, 5, 9, and 24 months after injury in the Netherlands.

Background: The collection of empirical data on the frequency, severity, and duration of functioning is a prerequisite to identify patient groups with long term or permanent disability.

Methods: We fielded postal questionnaires in a stratified sample of 8,564 injury patients aged 15 years and older, who had visited an emergency department in the Netherlands. Measurements were at 2.