Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.

Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11 years of MSUD newborn screening (NBS) in the Netherlands (screening >72 hours, referral if both total leucine (Xle) and valine ≥400 μmol/L blood) and have explored possibilities for improvement by combining our data with a systematic literature review and data from Collaborative Laboratory Integrated Reports (CLIR). Dutch MSUD NBS characteristics and accuracy were determined.

Histological intratumoral heterogeneity in pretreatment esophageal cancer biopsies predicts survival benefit from neoadjuvant chemotherapy: results from the UK MRC OE02 trial.

Despite the use of multimodal treatment, survival of esophageal cancer (EC) patients remains poor. One proposed explanation for the relatively poor response to cytotoxic chemotherapy is intratumor heterogeneity. The aim was to establish a statistical model to objectively measure intratumor heterogeneity of the proportion of tumor (IHPoT) and to use this newly developed method to measure IHPoT in the pretreatment biopsies from from EC patients recruited to the OE02 trial.

Emergencies on direct oral anticoagulants: Management, outcomes, and laboratory effects of prothrombin complex concentrate.

Background: In the initial absence of specific reversal agents for factor Xa inhibitors (FXa-Is), prothrombin complex concentrate (PCC) as a hemostatic agent has been recommended by guidelines. Since 2017, idarucizumab has been registered for dabigatran reversal. Still, data on the clinical outcome of direct oral anticoagulant (DOAC)-related emergencies (major bleeding or urgent interventions) is scarce.

Minimally invasive totally thoracoscopic stand-alone surgical ablation for atrial fibrillation.

Surgical ablation is a safe and effective treatment for atrial fibrillation. In the procedure demonstrated in this video tutorial, surgery was performed under general anesthesia with a double-lumen tube. After opening of the pericardium and blunt dissection of the oblique and transverse sinuses, surgical ablation was performed.

Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.

Sjögren-Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the gene, resulting in a deficiency of fatty aldehyde dehydrogenase. Most patients have a clearly recognizable severe phenotype, with congenital ichthyosis, intellectual disability, and spastic diplegia.

Ten-year follow-up after endocardial point-by-point cryoablation for paroxysmal atrial fibrillation.

Background: Since many years catheter ablation is widely used for the treatment of atrial fibrillation (AF), however, long-term follow-up data of ablation techniques are rare. This study presents a 10-year follow-up period in patients treated for paroxysmal AF (PAF) with point-by-point pulmonary vein isolation (PVI) using cryothermal energy (cryoPVI). The main objective is to investigate whether cryoPVI is able to create durable PVI.

EAT-10 Scores and Fiberoptic Endoscopic Evaluation of Swallowing in Head and Neck Cancer Patients.

Objective: The purpose of this study was to determine the relationship between patient-reported symptoms of oropharyngeal dysphagia (OD) using the Eating Assessment Tool (EAT)-10 and the swallowing function using a standardized fiberoptic endoscopic evaluation of swallowing (FEES) protocol in head and neck cancer (HNC) patients with confirmed OD.

Methods: Fifty-seven dysphagic HNC patients completed the EAT-10 and a FEES. Two blinded clinicians scored the randomized FEES examinations.

Congenital platelet disorders and health status-related quality of life.

Background: Patients with congenital blood platelet disorders (CPDs) demonstrate a predominantly mucocutaneous bleeding tendency. Repeated bleeds throughout life can have a significant impact on health status-related quality of life (HR-QoL), but few studies have investigated HR-QoL in patients with CPDs.

Objectives: To determine HR-QoL in patients with suspected or confirmed CPDs as compared with the general Dutch population and to assess the association between bleeding phenotype and HR-QoL.

An update on pulmonary rehabilitation techniques for patients with chronic obstructive pulmonary disease.

: Pulmonary rehabilitation (PR) is one of the core components in the management of patients with chronic obstructive pulmonary disease (COPD). In order to achieve the maximal level of independence, autonomy, and functioning of the patient, targeted therapies and interventions based on the identification of physical, emotional and social traits need to be provided by a dedicated, interdisciplinary PR team.: The review discusses cardiopulmonary exercise testing in the selection of different modes of training modalities.

Mitral valve repair after failed MitraClip therapy.

Although the long-term durability of transcatheter procedures has yet to be established, their emergence as an option for mitral valve repair seems to have provided the surgical community with another tool in the toolbox for treatment of mitral valve disease.  Edge-to-edge mitral valve repair (with the MitraClip, Abbott, Abbott Park, IL, USA) was developed as a novel procedure, based on Alfieri's technique, in which the repair can be performed through a percutaneous approach for correction of mitral valve regurgitation. However, with new treatment options, new complications are unavoidable.

Two-year persistence with teriparatide improved significantly after introduction of an educational and motivational support program.

Unlabelled: This study evaluated the 2-year persistence with teriparatide in the Netherlands. Analyses showed that the risk of non-persistence was 28% lower in patients who were followed according to an additional educational and motivational support program.

Introduction: Until recently, teriparatide (TPTD) was a third-line treatment option for severe osteoporosis in the Netherlands, which could only be prescribed by medical specialists based on a specific medical statement.

Multi-Site Coronary Vein Sampling Study on Cardiac Troponin T Degradation in Non-ST-Segment-Elevation Myocardial Infarction: Toward a More Specific Cardiac Troponin T Assay.

Background Cardiac troponin T ( cTnT ) is seen in many other conditions besides myocardial infarction, and recent studies demonstrated distinct forms of cTnT . At present, the in vivo formation of these different cTnT forms is incompletely understood. We therefore performed a study on the composition of cTnT during the course of myocardial infarction, including coronary venous system sampling, close to its site of release.

Aberrant innominate artery: A possible hazard during total laryngectomy.

Background: Surgical management in laryngeal carcinoma remains a challenge with countless unexpected complications. Great vessel anomalies such as anomaly of the innominate artery carry high risk of morbidity and mortality if not managed properly.

Methods: We present our first experience with an aberrant innominate artery during total laryngectomy which complicated the whole surgical procedure and tracheostoma placement.

Preconceptional Maternal Bile Acids and Birth Weight of Neonates.

Preconceptional maternal bile acid species are significantly associated with birth weight of the offspring.

Anatomic Relationship of the Complex Tricuspid Valve, Right Ventricle, and Pulmonary Vasculature: A Review.

Importance: Severe functional or secondary tricuspid regurgitation (TR) is associated with poor long-term outcomes in natural history studies as well as specific disease states. An understanding of the physiologic causes of the TR is lacking precluding a systematic approach to treatment.

Observations: The complex anatomic relationship between the tricuspid valve apparatus and structure of the right side of the heart lends insight into the functional changes seen with secondary TR.

Relationship Between Nonalcoholic Fatty Liver Disease Susceptibility Genes and Coronary Artery Disease.

Coronary artery disease (CAD) is the principal cause of death in patients with nonalcoholic fatty liver disease (NAFLD). The aim of the present study was to investigate whether NAFLD is causally involved in the pathogenesis of CAD. For this, previously reported NAFLD susceptibility genes were clustered and tested for an association with CAD in the Coronary Artery Disease Genome-Wide Replication and Meta-Analysis plus the Coronary Artery Disease Genetics (CARDIoGRAMplusC4D) Consortium data set.

Natriuretic Peptides in Chronic Heart Failure.

Normal brain natriuretic peptide (BNP) and N-terminal proBNP (NT-proBNP) levels are helpful in excluding chronic heart failure in the ambulatory setting, although they have been studied less well and possibly less accurately than in acute care. They may also be of help in screening patients at risk to intervene and reduce the development of heart failure. Natriuretic peptides are also excellent prognostic markers of chronic heart failure, but the clinical value of such prognostic information is less clear.

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.

Background: PMS2-associated Lynch syndrome is characterized by a relatively low colorectal cancer penetrance compared with other Lynch syndromes. However, age at colorectal cancer diagnosis varies widely, and a strong genetic anticipation effect has been suggested for PMS2 families. In this study, we examined proposed genetic anticipation in a sample of 152 European PMS2 families.

Glucose Modifies the Effect of Endovascular Thrombectomy in Patients With Acute Stroke.

Background and Purpose- Hyperglycemia is a negative prognostic factor after acute ischemic stroke but is not known whether glucose is associated with the effects of endovascular thrombectomy (EVT) in patients with large-vessel stroke. In a pooled-data meta-analysis, we analyzed whether serum glucose is a treatment modifier of the efficacy of EVT in acute stroke. Methods- Seven randomized trials compared EVT with standard care between 2010 and 2017 (HERMES Collaboration [highly effective reperfusion using multiple endovascular devices]).

Association Between Cardiovascular Magnetic Resonance-Derived Left Atrial Dimensions, Electroanatomical Substrate and NT-proANP Levels in Atrial Fibrillation.

Background Enlargement of left atrial ( LA ) size indicates advanced disease stage in patients with atrial fibrillation ( AF ) and is associated with poor success of different AF therapies. Two dimensional echocardiographic LA measurements do not reliably reflect the true size of LA anatomy. The aim of the current study was: 1) to analyze cardiovascular magnetic resonance ( CMR )-derived LA dimensions and their association with low voltage areas ( LVA ); and 2) to investigate the association between these parameters and NT -pro ANP (N-terminal proatrial natriuretic peptide) levels.