Long term outcome after surgical tetralogy of Fallot repair at young age: Longitudinal follow-up up to 50 years after surgery.

Background: Little is known about the very long-term outcome in Tetralogy of Fallot (ToF) patients.

Objectives: To prospectively evaluate clinical outcome and quality-of-life after surgical repair of ToF.

Methods: Single-centre, longitudinal cohort-study evaluating every decade 144 ToF patients who underwent surgical repair <15 years of age between 1968 and 1980.

Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications.

Autosomal dominant mutations in the gene encoding the DNA and RNA binding protein FUS are a cause of amyotrophic lateral sclerosis (ALS), and about 0·3-0·9% of patients with ALS are FUS mutation carriers. FUS-mutation-associated ALS (FUS-ALS) is characterised by early onset and rapid progression, compared with other forms of ALS. However, different pathogenic mutations in FUS can result in markedly different age at symptom onset and rate of disease progression.

International Expert-Based Consensus Definition, Classification Criteria, and Minimum Data Elements for Osteoradionecrosis of the Jaw: An Inter-Disciplinary Modified Delphi Study.

Purpose: Osteoradionecrosis of the jaw (ORNJ) is a severe iatrogenic disease characterized by bone death after radiation therapy (RT) to the head and neck. With over 9 published definitions and at least 16 classification systems, the true incidence and severity of ORNJ are obscured by lack of a standard for disease definition and severity assessment, leading to inaccurate estimation of incidence, reporting ambiguity, and likely under-diagnosis worldwide. This study aimed to achieve consensus on an explicit definition and phenotype of ORNJ and related precursor states through data standardization to facilitate effective diagnosis, monitoring, and multidisciplinary management of ORNJ.

Phosphodiesterase 4D inhibition improves the functional and molecular outcome in a mouse and human model of Charcot Marie Tooth disease 1 A.

Charcot-Marie-Tooth disease type 1A (CMT1A) is an inherited peripheral neuropathy caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. It is primarily marked by Schwann cell dedifferentiation and demyelination, leading to motor and sensory deficits. Cyclic adenosine monophosphate (cAMP) is crucial for Schwann cell differentiation and maturation.

Longitudinal cardiac imaging for assessment of myocardial injury in non-hospitalised community-dwelling individuals after COVID-19 infection: the Rotterdam Study.

Background: The aim of this study was to assess the presence of myocardial injury after COVID-19 infection and to evaluate the relation between persistent cardiac symptoms after COVID-19 and myocardial function in participants with known cardiovascular health status before infection.

Methods: In the prospective population-based Rotterdam Study cohort, echocardiography and cardiovascular magnetic resonance (CMR) were performed among participants who recovered from COVID-19 at home within 2 years prior to inclusion in the current study. Persistent cardiac symptoms comprised only self-reported symptoms of chest pain, dyspnoea or palpitations lasting >4 weeks after COVID-19 infection.

Effect of Characteristic Inflammatory and Structural Pelvic Magnetic Resonance Imaging Lesions on Expert Assessment of Axial Juvenile Spondyloarthritis.

Objective: To evaluate the influence of pelvic magnetic resonance imaging (MRI) findings on axial disease assessment in juvenile spondyloarthritis (JSpA).

Methods: This was a cross-sectional study of patients with JSpA with suspected axial disease. Three experts reviewed each case and rated their confidence (-3 to +3) in the presence of axial disease, first with clinical data and second with clinical and MRI data.

Health-related Quality of Life and Exercise Capacity in Double Lung Transplant Recipients With Baseline Lung Allograft Dysfunction.

Background: Baseline lung allograft dysfunction (BLAD) after lung transplant is associated with an increased risk of dying, but the association with health-related quality of life (HRQL) and exercise capacity is not known. We hypothesized that BLAD would be associated with reduced HRQL and 6-min walk distance (6MWD) at 1 y post-lung transplant.

Methods: We analyzed patients who underwent lung transplants in our program from 2004 to 2018 who completed 1-y 36-item Short Form (SF-36) questionnaire and 6MWD testing.

Proton therapy of lung cancer patients - Treatment strategies and clinical experience from a medical physicist's perspective.

Purpose: Proton therapy of moving targets is considered a challenge. At Maastro, we started treating lung cancer patients with proton therapy in October 2019. In this work, we summarise the developed treatment strategies and gained clinical experience from a physics point of view.

Long-Term Safety and Efficacy of Bimekizumab in Axial Spondyloarthritis: 2-Year Results from Two Phase 3 Studies.

Objectives: Bimekizumab, a monoclonal IgG1 antibody that selectively inhibits interleukin (IL)‑17F in addition to IL-17A, previously demonstrated efficacy and was well tolerated to 1 year in patients with non-radiographic (nr-) and radiographic (r-) axial spondyloarthritis (axSpA). Here, we report bimekizumab safety and efficacy to 2 years.

Methods: Patients completing week 52 in the phase 3 studies BE MOBILE 1 (nr-axSpA; NCT03928704) and 2 (r‑axSpA; NCT03928743) were eligible for an ongoing open‑label extension (OLE; NCT04436640).

Instruments for Value Elucidation in Older Adults in Clinical Practice-A Scoping Review.

Background: To ensure appropriate care for the individual older adult, an ideal treatment should align with patients' values. However, healthcare professionals struggle with how to elucidate patient values effectively. To offer guidance to healthcare professionals, we performed a scoping review, thereby mapping and categorizing instruments specifically developed to elucidate values of older adults in clinical practice.

Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo.

The most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is an intronic GC repeat expansion in C9orf72. The repeats undergo bidirectional transcription to produce sense and antisense repeat RNA species, which are translated into dipeptide repeat proteins (DPRs). As toxicity has been associated with both sense and antisense repeat-derived RNA and DPRs, targeting both strands may provide the most effective therapeutic strategy.

A Repurposed Drug Selection Pipeline to Identify CNS-Penetrant Drug Candidates for Glioblastoma.

Background: Glioblastoma is an aggressive and incurable type of brain cancer. Little progress has been made in the development of effective new therapies in the past decades. The blood-brain barrier (BBB) and drug efflux pumps, which together hamper drug delivery to these tumors, play a pivotal role in the gap between promising preclinical findings and failure in clinical trials.

Electronic cigarette usage amongst high school students in South Africa: a mixed methods approach.

Background: The WHO has highlighted that: "promotion of e-cigarettes has led to marked increases in e-cigarette use by children and adolescents." The long-term neuropsychiatric and psychological consequences of substance abuse in adolescence is well recognised. Limited data exists on the adolescent burden of vaping-related nicotine addiction and behavioural and/or psychological dependence to guide pharmacological or behavioural interventions to stop electronic cigarette usage.

Visceral Pain in Preterm Infants with Necrotizing Enterocolitis: Underlying Mechanisms and Implications for Treatment.

Necrotizing enterocolitis (NEC) is a relatively rare but very severe gastrointestinal disease primarily affecting very preterm infants. NEC is characterized by excessive inflammation and ischemia in the intestines, and is associated with prolonged, severe visceral pain. Despite its recognition as a highly painful disease, current pain management for NEC is often inadequate, and research on optimal analgesic therapy for these patients is lacking.

ESAIC focused guidelines for the management of the failing epidural during labour epidural analgesia.

Background: Labour epidural analgesia reportedly fails in up to 10 to 25% of cases. A joint taskforce of European Society of Anaesthesiology and Intensive Care (ESAIC) experts was created to develop this focused guideline on the management of failing epidural analgesia in a previously well functioning epidural catheter.

Design: Six clinical questions were defined using a PICO (Population/Intervention/Comparison/Outcome) strategy to conduct a systematic literature search.

Indications for the use of dermal substitutes in patients with acute burns and in reconstructive surgery after burns: A systematic review.

Deep dermal and full-thickness burns often result in scar sequelae such as contractures, hypertrophy, pain and itching following split-thickness skin grafting. Dermal substitutes are currently employed alongside split-thickness skin grafting to enhance clinical outcomes, though their indications remain a subject of ongoing debate. This systematic review aims to clarify the indications for the application of dermal substitutes in burn patients, in both acute and reconstructive settings.

Human Enteric Glia Diversity in Health and Disease: New Avenues for the Treatment of Hirschsprung Disease.

Background & Aims: The enteric nervous system (ENS), which is composed of neurons and glia, regulates intestinal motility. Hirschsprung disease (HSCR) results from defects in ENS formation; however, although neuronal aspects have been studied extensively, enteric glia remain disregarded. This study aimed to explore enteric glia diversity in health and disease.

Do the provisional PRINTO Enthesitis/Spondylitis-Related JIA criteria capture youth with axial spondyloarthritis?

Background: The Paediatric Rheumatology International Trials Organisation (PRINTO) recently undertook an effort to better harmonize the pediatric and adult arthritis criteria. These provisional criteria are being refined for optimal performance. We aimed to investigate differences between patients who did and did not fulfill these PRINTO criteria amongst youth diagnosed with juvenile spondyloarthritis (SpA) that met axial juvenile SpA (axJSpA) classification criteria.

Sports participation and lifestyle in middle-aged adults with congenital heart disease.

Background: Sports are associated with numerous physiological and psychological benefits. However, it is unclear to what extent adults with congenital heart disease(CHD) participate in sports and whether this is safe. Furthermore, little is known about lifestyle habits in this group.

Changes in blood biomarkers correlate with changes in cardiac size and function in patients with tetralogy of Fallot.

Introduction: Patients after surgical correction of Tetralogy of Fallot (ToF) often show adverse cardiac remodeling. To better understand the underlying biological processes, we studied the relation between changes in blood biomarkers and changes in biventricular size and function as assessed by cardiac magnetic resonance imaging (CMR).

Methods: This study included 50 ToF patients, who underwent blood biomarker and CMR analysis at least twice between 2002 and 2018.

C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.

Progressive loss of motor neurons is the hallmark of the neurodegenerative disease amyotrophic lateral sclerosis (ALS), but the underlying disease mechanisms remain incompletely understood. In this study, we investigate the effects of C21ORF2 mutations, a gene recently linked to ALS, and find that primary cilia are dysfunctional. Human patient-derived mutant C21ORF2 motor neurons have a reduced ciliary frequency and length.

Pilot Data Suggest That Obesity and Presence of Malignancy Are Associated with Altered Immune Cell Infiltration in Endometrial Biopsies.

(1) : The worldwide endometrial cancer (EC) incidence is rising, amongst others linked to obesity, type 2 diabetes mellitus (T2DM), and metabolic syndrome, possibly due to low-grade adipose tissue inflammation. We studied immune cell infiltration in the endometrium in relation to diagnosis and obesity. (2) : A cohort was created ( = 44) from postmenopausal women, lean ( = 15) and obese ( = 29), with bleeding complaints due to EC ( = 18) or benign pathology ( = 26).

Cognition and behavior in adults with neurofibromatosis type 1.

Background: Neurofibromatosis Type 1 (NF1) is a congenital neurocutaneous disorder. As NF1 is incurable and presents with a wide range of physical and mental symptoms, knowledge of neurocognitive and behavioral functioning can be an important aid in understanding their functional impact, and developing treatment options. To date, studies in children with NF1 have shown dysfunction in several domains, but much less is known about cognition and behavior in adults with NF1.