Publications by authors named "Bjerre J"

Article Synopsis
  • - The growth and development of bones are controlled by bone morphogenetic proteins (BMPs), which are linked to various skeletal disorders, but BMP5 has not previously been connected to human skeletal malformations.
  • - A patient with two loss-of-function variants of BMP5 was identified, presenting a syndromic phenotype that includes skeletal dysostosis, physical abnormalities, and heart issues.
  • - The study suggests a novel association between BMP5 variants and various developmental anomalies affecting the ears, heart, and skeleton, enhancing our understanding of BMP5's role in human development.
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Article Synopsis
  • After implantation of an implantable cardioverter defibrillator (ICD), patients face temporary driving restrictions for personal vehicles and permanent prohibitions for professional driving, impacting their job and daily activities.
  • A Danish survey revealed that among active professional drivers, 33% lost their jobs due to these driving restrictions, while 47% of previously employed patients felt restricted in maintaining their work.
  • The study indicated that younger age, higher income, and pre-implantation driving frequency increased the likelihood of significant daily living disruptions due to driving limitations after ICD implantation.
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Introduction: Diabetes in pregnancy is associated with impaired offspring cardiac function. The objective of this systematic review was to determine the effect of diabetes in pregnancy on cardiac function in the offspring measured by echocardiography.

Methods: PubMed, Embase, Cochrane CENTRAL and Web of Science databases were searched from 1992 to June 27, 2023.

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Objective: It is estimated that about 40% of all dementia cases are potentially attributable to modifiable risk factors, but awareness of this is relatively lacking.

Methods: An 18-months nation-wide public awareness campaign on dementia risk reduction was rolled out in Denmark that combined a mass-media approach with an online risk assessment tool and knowledge bank targeting all inhabitants aged between 40 and 75 years. Campaign effects (increase in awareness and knowledge of modifiable dementia risk and protective factors) were assessed via online surveys in two independent random samples before (n = 1003) and after the campaign (n = 1076).

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Background: Robust data on changes in pulmonary valve replacement (PVR) procedural volume and predictors of bioprosthetic pulmonary valve (BPV) durability in patients with tetralogy of Fallot (TOF) are scarce.

Objectives: This study sought to assess temporal trends in PVR procedural volume and BPV durability in a nationwide, retrospective TOF cohort.

Methods: Data were obtained from patient records.

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Left ventricular aneurysm is a potentially serious but rare condition in children. This case describes delayed but fatal rupture of an occult posttraumatic left ventricular aneurysm in an 11-year-old boy with a history of blunt chest trauma from a high-impact automobile collision 7 months earlier. ().

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Background And Aim: There are a paucity of studies investigating workforce affiliation in connection with first-time implantable cardioverter defibrillator (ICD)-implantation. This study explored workforce affiliation and risk markers associated with not returning to work in patients with ICDs.

Methods: Using the nationwide Danish registers, patients with a first-time ICD-implantation between 2007 and 2017 and of working age (30-65 years) were identified.

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Introduction: The aetiology of Kawasaki disease (KD) remains unknown. Changes in infectious exposure during the COVID-19 pandemic owing to infection prevention measures may have affected the incidence of KD, supporting the pathogenic role of an infectious trigger. The purpose of this study was to evaluate the incidence, phenotype and outcome of KD before and during the COVID-19 pandemic in Denmark.

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Objectives: To assess temporal changes in the surgical management of patients with tetralogy of Fallot including the timing of interventions, surgical techniques, reinterventions and survival in a nationwide cohort.

Methods: Patients with tetralogy of Fallot in Denmark were divided into 3 eras based on their year of birth: early (1977-1991), intermediate (1992-2006) and late (2007-2021).

Results: The cohort consisted of 745 patients.

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Noonan syndrome is characterized by variable phenotypic expressivity with characteristic dysmorphic facial features, varying degrees of intellectual disability, developmental delay, short stature, and congenital heart defects in 50-80%. Other findings include a webbed neck, cryptorchidism, coagulation defects and eye abnormalities. Thus far, Noonan syndrome has mainly been attributed to heterozygous pathogenic variants in 10+ different genes, with the rare exception of cases due to biallelic pathogenic variants in LZTR1.

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Thromboembolism is a serious toxicity in the treatment of acute lymphoblastic leukemia (ALL), but little is known about the correlation between asparaginase enzyme activity (ASA) levels and coagulation parameters. We included 65 non-high risk ALL patients, aged 1-17 years. Coagulation parameters and corresponding ASA levels were measured during asparaginase treatment.

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Article Synopsis
  • - Men living alone struggle more with managing long-term health issues, particularly chronic medical conditions.
  • - Anticoagulation control, which is a key measure of how well someone manages their health, is worse for these men.
  • - This suggests that living alone can negatively impact a person's ability to take care of their health effectively.
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Infants with Noonan Syndrome and hypertrophic cardiomyopathy have a poor prognosis and a high mortality especially when diagnosed before six months of age. As for the majority of the RASopathies, no medical treatment has been approved for Noonan Syndrome. Meanwhile, several approved agents targeting the same RAS/MAPK signaling pathway are used in cancer treatment.

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Background: Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described.

Objectives: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression.

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  • The study conducted in Denmark assessed the incidence of myopericarditis following the Pfizer-BioNTech COVID-19 vaccination in adolescents aged 12-17 years.
  • A total of 15 cases were identified among nearly 261,000 vaccinated individuals, resulting in a rate of 97 cases per million for males and 16 per million for females.
  • The findings suggest that the rate of myopericarditis in males after vaccination is higher compared to similar data reported from the United States.
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Aim: To investigate if short-term treatment with liraglutide, a glucagon-like peptide-1 receptor agonist, improves left ventricular diastolic function.

Materials And Methods: An investigator-initiated, double-blind, randomized, placebo-controlled trial on the effect of 18 weeks of treatment with liraglutide on diastolic function was assessed in patients with type 2 diabetes with signs of diastolic dysfunction (echo-Doppler determined E/e' ≥ 9 and/or lateral e' ≤ 10 cm/s). Primary outcomes were improved left ventricle filling (the early peak filling rate [ePFR]) and left atrium ease of emptying (the passive emptying fraction [LA ]), assessed by cardiac magnetic resonance imaging at rest and during chronotropic stress.

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Over the last decades, remarkable advances in survival in patients with congenital heart disease (CHD) have been reported. Currently, 90% of infants born with CHD can expect to reach adulthood. Moderate and severe CHD is associated with increased perioperative mortality.

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Article Synopsis
  • A nationwide survey in Denmark assessed the awareness and adherence to driving restrictions among patients who received implantable cardioverter defibrillators (ICDs) between 2013 and 2016.
  • The study found that a significant number of respondents (between 28% and 58% depending on their situation) were unaware of the driving restrictions and over one-third resumed driving during prohibited periods.
  • Despite this, only 0.2% reported experiencing an ICD shock while driving, with a very low estimated risk of harm (0.0002% per person-year).
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Introduction: Radiofrequency catheter ablation (RFA) is the treatment of choice for a variety of cardiac arrhythmias in adults. RFA is considered effective and is associated with few complications. We aimed to review the characteristics and outcomes of invasive electrophysiological study (EPS) and RFA in children with supraventricular tachyarrhythmia.

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Data is lacking on the contemporary risk of death and readmission following implantable cardioverter-defibrillator (ICD) implantation in patients with non-ischemic cardiomyopathies (NICM) compared with ischemic cardiomyopathies (ICM) in a large nationally representative cohort. We performed a retrospective cohort study using the National Cardiovascular Data Registry ICD Registry linked with Medicare claims from April 1, 2010 to December 31, 2013. We established a cohort of NICM and ICM patients with a left ventricular ejection fraction ≤35% who received a de novo, primary prevention ICD.

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Background: The evaluation of the patent ductus arteriosus (PDA) in the very premature neonate is a challenge. Echocardiography provides an interpretation of the hemodynamic condition. It is however, only a snapshot.

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Background: Children with complex CHD are at risk for psychopathology such as severe attention-deficit/hyperactivity disorder symptoms after congenital heart surgery.

Objective: The aim of this study was to investigate if children with Ventricular Septal Defect, Transposition of Great Arteries, or Tetralogy of Fallot have an increased occurrence of attention-deficit/hyperactivity disorder symptoms compared with the background population and to investigate differences between the three CHDs in terms of occurrence and appearance of attention-deficit/hyperactivity disorder symptoms.

Method: A national register-based survey was conducted, including children aged 10-16 years with surgically corrected CHDs without genetic abnormalities and syndromes.

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Regular audit of results of prenatal screening for congenital heart disease (CHD) is crucial to ensure reliable prenatal diagnosis. We aimed to assess the accuracy of prenatal diagnosis of major CHD between 1996 and 2013. During the study period, prenatal detection of major CHD improved from 4.

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Article Synopsis
  • The study investigates how early childhood surgeries for congenital heart defects (CHD) impact the quality of life in children ages 10-16.
  • A survey was conducted with 161 children who had surgeries for conditions like Ventricular Septal Defect, Transposition of the Great Arteries, and Tetralogy of Fallot, using the Paediatric Quality of Life 4.0 questionnaire to gather data on various quality of life aspects.
  • Results indicated that overall and school-related quality of life scores for children with CHD were significantly lower compared to healthy peers, with the Tetralogy of Fallot group showing particularly low physical health scores.
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Background: Major congenital heart diseases (CHD) often demand intervention in the neonatal period. Prenatal diagnosis may improve mortality by eliminating the diagnostic delay; however, there is controversy concerning its true effect. We aimed to evaluate the effect of general prenatal screening on prognosis by comparing a period without general prenatal screening to a period with general prenatal screening.

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