Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome.

GATA2 deficiency is a heterogeneous multi-system disorder characterized by a high risk of developing myelodysplastic syndrome (MDS) and myeloid leukemia. We analyzed the outcome of 65 patients reported to the registry of the European Working Group (EWOG) of MDS in childhood carrying a germline GATA2 mutation (GATA2) who had undergone hematopoietic stem cell transplantation (HSCT). At 5 years the probability of overall survival and disease-free survival (DFS) was 75% and 70%, respectively.

Electroanatomical mapping- and CT scan image integration-guided pacing lead implantation: A case series and review of the recent literature.

Background: We present a case series and short review of electroanatomical mapping (EAM)-guided pacing lead implantation. The cases illustrate different aspects of EAM use in special circumstances and summarizes our experience with EAM-guided His lead implantation in 32 consecutive patients. Advantages and caveats encountered when using EAM in device procedures are discussed.

Positive Predictive Value of ICD-10 Diagnosis Codes for COVID-19.

Purpose: To examine the positive predictive value (PPV) of International Classification version 10 (ICD-10) diagnosis codes for Coronavirus disease 2019 (COVID-19).

Patients And Methods: Medical record review of all patients assigned a diagnosis code of COVID-19 (DB342A or DB972A) at six Danish departments of infectious diseases from February 27 through May 4, 2020. Confirmed COVID-19 diagnosis was defined as either: 1) definite, a positive polymerase chain reaction (PCR) for severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) on a respiratory sample combined with symptoms suggestive of COVID-19: 2) probable, clinical presentation of COVID-19 without detection of SARS-CoV-2 and no alternative diagnoses considered more likely; or 3) possible, clinical presentation of COVID-19 without detection of SARS-CoV-2, and the patient was discharged or deceased before further investigations were carried out.

Diabetic microvascular complications are associated with reduced global longitudinal strain independent of atherosclerotic coronary artery disease in asymptomatic patients with diabetes mellitus: a cross-sectional study.

Background: Reduced left ventricular function, assessed by global longitudinal strain (GLS), is sometimes observed in asymptomatic patients with diabetes mellitus (DM) and is often present in patients with diabetes-related microvascular complications. Our aim was to assess the association between microvascular complications, coronary artery plaque burden (PB) and GLS in asymptomatic patients with DM and non-obstructive coronary artery disease (CAD).

Methods: This cross-sectional study included patients with DM without any history, symptoms or objective evidence of obstructive CAD.

Vascular conditioning prevents adverse left ventricular remodelling after acute myocardial infarction: a randomised remote conditioning study.

Aims: Remote ischemic conditioning (RIC) alleviates ischemia-reperfusion injury via several pathways, including micro-RNAs (miRs) expression and oxidative stress modulation. We investigated the effects of RIC on endothelial glycocalyx, arterial stiffness, LV remodelling, and the underlying mediators within the vasculature as a target for protection.

Methods And Results: We block-randomised 270 patients within 48 h of STEMI post-PCI to either one or two cycles of bilateral brachial cuff inflation, and a control group without RIC.

Riociguat treatment in patients with chronic thromboembolic pulmonary hypertension: Final safety data from the EXPERT registry.

Objective: The soluble guanylate cyclase stimulator riociguat is approved for the treatment of adult patients with pulmonary arterial hypertension (PAH) and inoperable or persistent/recurrent chronic thromboembolic pulmonary hypertension (CTEPH) following Phase 3 randomized trials. The EXPosurE Registry RiociguaT in patients with pulmonary hypertension (EXPERT) study was designed to monitor the long-term safety of riociguat in clinical practice.

Methods: EXPERT was an international, multicenter, prospective, uncontrolled, non-interventional cohort study of patients treated with riociguat.

Riociguat treatment in patients with pulmonary arterial hypertension: Final safety data from the EXPERT registry.

Objective: The soluble guanylate cyclase stimulator riociguat is approved for the treatment of adult patients with pulmonary arterial hypertension (PAH) and inoperable or persistent/recurrent chronic thromboembolic pulmonary hypertension following Phase 3 randomized trials. The EXPosurE Registry RiociguaT in patients with pulmonary hypertension (EXPERT) study was designed to monitor the long-term safety of riociguat in clinical practice.

Methods: EXPERT was an international, multicenter, prospective, uncontrolled, non-interventional cohort study of patients treated with riociguat.

Characterization of distinct molecular interactions responsible for IRF3 and IRF7 phosphorylation and subsequent dimerization.

IRF3 and IRF7 are critical transcription factors in the innate immune response. Their activation is controlled by phosphorylation events, leading to the formation of homodimers that are transcriptionally active. Phosphorylation occurs when IRF3 is recruited to adaptor proteins via a positively charged surface within the regulatory domain of IRF3.

Invasive aortic pulse pressure is not superior to cuff pulse pressure in cardiovascular risk prediction.

Objective: Aortic pulse pressure (PP) represents the hemodynamic cardiac and cerebral burden more directly than cuff PP. The objective of this study was to investigate whether invasively measured aortic PP confers additional prognostic value beyond cuff PP for cardiovascular events and death. With increasing age, cuff PP progressively underestimates aortic PP.

Surgical correction of pectus carinatum.

Pectus carinatum is a common chest wall anomaly. It occurs five times more frequently in males than females and can be present at birth, although it usually progresses during adolescence. The correction of chest wall anomalies offers patients significant improvements in quality of life and it should never be regarded as an entirely cosmetic issue.

Postoperative paralytic ileus after cytoreductive surgery combined with heated intraperitoneal chemotherapy.

Background: Patients with peritoneal malignancy treated by cytoreductive surgery (CRS) combined with hyperthermic intraperitoneal chemotherapy (HIPEC) are prone to develop postoperative paralytic ileus (POI). POI is associated with significant increase in both morbidity and mortality. CRS and HIPEC commonly result in prolonged POI (PPOI).

Qualitative factors shaping MS patients' experiences of infusible disease-modifying drugs: a critical incident technique analysis.

Objective: To explore factors shaping the experiences of patients with relapsing-remitting multiple sclerosis with infusible disease-modifying drugs in a hospital setting.

Design And Settings: The critical incident technique served as a framework for collecting and analysing patients' qualitative account practices involving infusible disease-modifying drugs. Data were collected through semistructured interviews and one single-case study.

Diabetes in urban Guinea-Bissau; patient characteristics, mortality and prevalence of undiagnosed dysglycemia.

Background: The burden of diabetes mellitus in Sub-Saharan Africa is growing rapidly, and yet the prevalence and patient characteristics are still largely unknown.

Objectives: We analyzed clinical and demographic characteristics of Type 2 diabetes (T2DM) patients attending a diabetes clinic in Guinea-Bissau from February 2008 to April 2014, and estimated the prevalence and risk factors of unknown-impaired fasting plasma glucose (FPG) and diabetes, as well as excess mortality associated with T2DM.

Methods: We characterized T2DM patients attending the national diabetes clinic in Bissau.

Cognitive impairments and recovery in patients with work-related stress complaints - four years later.

Patients on sick leave due to work-related stress often present with cognitive complaints. The primary aim of this prospective cohort study was to examine potential long-term consequences of previous ongoing work-related stress in terms of cognitive functioning four years after initial professional care seeking. We tested a group of patients with work-related stress complaints with a comprehensive neuropsychological test battery.

Overview of Quantitative Flow Ratio and Optical Flow Ratio in the Assessment of Intermediate Coronary Lesions.

Fractional flow reserve (FFR)-guided percutaneous coronary intervention (PCI) improves clinical outcome compared with angiography-guided PCI. Advances in computational technology have resulted in the development of solutions, enabling fast derivation of FFR from imaging data in the catheterization laboratory. The quantitative flow ratio is currently the most validated approach to derive FFR from invasive coronary angiography, while the optical flow ratio allows faster and more automation in FFR computation from intracoronary optical coherence tomography.

Treatment of ADHD in adults - prevalence of discontinuation and associated factors - results from a cross-sectional analysis of Danish register data.

Background: A growing number of adults are receiving pharmacological treatment for ADHD but a sizable proportion also discontinues or have gaps in treatment. The primary aims of this study were to identify how many patients treated for ADHD in adulthood, have at least one event of discontinuation in treatment and to identify possible associated variables.

Methods: Within the Danish population aged 18-60 years on the 1st of January 2013, we identified the number of individuals who had been prescribed ADHD-medication at least once during the 1st of January 2002-31st of December 2013 using Danish register data.

Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.

Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as the most common cause underlying primary MDS in children. Triggered by the discovery of a recurrent synonymous GATA2 variant, we systematically investigated 911 patients with phenotype of pediatric MDS or cellular deficiencies for the presence of synonymous alterations in GATA2.

Electronic symptom monitoring in patients with metastatic lung cancer: a feasibility study.

Objectives: To design an electronic questionnaire for symptom monitoring and to evaluate the feasibility, usability and acceptability when applied to patients with metastatic lung cancer.

Setting: Single-centre feasibility study.

Participants: Patients with stage IV lung cancer in antineoplastic treatment.

Effects of antenatal hypnosis on maternal salivary cortisol during childbirth and six weeks postpartum-A randomized controlled trial.

Background: Cortisol has been used to capture psychophysiological stress during childbirth and postpartum wellbeing. We explored the effect of a brief antenatal training course in self-hypnosis on salivary cortisol during childbirth and 6 weeks postpartum.

Methods: In a randomized, controlled trial conducted at Aarhus University Hospital Skejby Denmark during the period January 2010 until October 2010, a total of 349 healthy nulliparous women were included.