Acta Clinica Belgica最新文献

Background: Fish-eye disease (FED) is due to a partial deficiency in LCAT activity. Nevertheless, Familial lecithin-cholesterol acyltransferase deficiency (FLD), also called Norum disease, appears when the deficiency is complete. They are both rare genetic disorders inherited in an autosomal recessive manner. Clinical signs include decreased circulating HDL cholesterol and dense corneal opacity. Kidney injuries also affect patients suffering from FLD. The diagnosis of FLD is based on the presence of characteristic signs and symptoms and confirmed by genetic testing.

Case presentation: We present a case of a 63-year-old man showing an altered lipid profile with low HDL cholesterol, chronic kidney disease (CKD) and corneal disorders. He was referred to genetic counseling in order to discard genetic LCAT deficiency due to decreased visual acuity caused by corneal opacity. A massive DNA sequencing was conducted using a multigene panel associated with lipid metabolism disturbances.

Results and genetic findings: Two likely pathogenic variants in LCAT were identified and later confirmed by Sanger sequencing. Both (c.491 G > A and c.496 G > A) were missense variants that originated an amino acid substitution (164Arginine for Histidine and 166Alanine for Threonine, respectively) modifying the protein sequence and its 3D structure.

Conclusions: FLD and FED sharing common biochemical features, and the existence of other diseases with similar clinical profiles underline the need for a timely differential diagnosis aiming to address patients to preventive programs and future available therapies. This case, added to the reduced number of publications previously reported regarding FLD and FED, contributes to better understanding the genetic characteristics, clinical features, and diagnosis of these syndromes.

Introduction: Health-care organizations are facing a high burden of ergonomic occupational accidents, and prevention is a continuous point of interest. In this manuscript, we describe the characteristics of ergonomic accidents in a large Belgian university hospital and discuss the value of near misses.

Methods: Combining databases, we identified the frequency [number of accidents × 10⁶ hours worked per year], severity (number of days off work × 10³ hours worked per year), and profile of the victims of occupational ergonomic accidents (with absence from work) or incidents or near-misses (without absence from work). Ergonomic accidents and incidents include slips, trips, falls, injurious body movements, overexertion, and handling heavy weights.

Results: In a period of 23 years, we noticed a significant decrease in the frequency of ergonomic accidents (from about 7 to about 4 standard units), without changes in the severity. The decrease in the frequency of accidents is mirrored by an increase in the frequency of incidents (from about 4 to about 6 standard units). Female and older employees are more vulnerable to accidents, and the frequency was between two and four times higher for employees mostly involved in manual tasks compared to employees mostly involved in managerial tasks. The profile of the victims and the causes of accidents and incidents were identical.

Conclusion: Although it is premature to assume a cause-consequence relationship between incidents and accidents, it is tempting to speculate that the increased ratio of the frequencies of incidents over accidents might be one of the variables reflecting the adequacy of preventive measures and the growth of safety behavior.

Objectives: Prevalence of MRSA in patients with CF has risen over the past decades, and chronic infection with MRSA is associated with worse outcome in this patient group.

Methods: This retrospective observational study investigated long-term eradication rate in pediatric and adult CF patients with chronic MRSA infection, using a 6-month eradication regimen containing 2 oral antibiotics, combined with topical decolonisation measures. Respiratory tract cultures were performed at least every three months, from the first MRSA-positive culture onwards.

Results: A total of 24 patients with chronic MRSA infection were identified from our CF patient registry, of which 13 patients underwent an eradication attempt. The regimen consisted of 2 oral antibiotics: a combination of rifampicin, fusidic acid, clindamycin and co-trimoxazol, based on the sensitivity pattern of the MRSA strain. At the end of the study period (median 8.2 years), 12 out of 13 patients (92%) were MRSA negative. None of the patients interrupted treatment due to side-effects.

Conclusions: Eradication of chronic MRSA infection is feasible, well-tolerated and highly successful, and can offer a long-lasting MRSA-negative status, obviating the need for patient segregation.

Introduction: Abiraterone acetate + prednisone (AAP) and docetaxel have proven their efficacy in the treatment of patients with newly diagnosed metastatic hormone-sensitive prostate cancer (mHSPC) in clinical trials. However, real-world data are scarce. The goal of this study is to evaluate real-world data on the efficacy and safety of these therapies in mHSPC patients.

Patients and methods: Records of 93 patients from 21 different centres were retrospectively reviewed. Primary and secondary endpoints were radiographic and PSA progression-free survival (RPFS - PSA-PFS) and cancer specific and overall survival (CSS - OS), respectively. Adverse events (AEs) were evaluated according to the Common Terminology Criteria for Adverse Events version 5.0. Differences in oncological outcome and AEs were evaluated between three treatment groups: ADT only (N=26) - ADT + AAP (N=48) - ADT + docetaxel (N=19). Survival analysis was performed using Kaplan-Meier statistics.

Results: Median RPFS was 13 months (95% confidence interval [CI]: 9-17) for ADT only, 21 months (95% CI: 19-23) for ADT + AAP and 12 months (95% CI: 11-14) for ADT + docetaxel (p = 0.004). The 1-year PSA-PFS, CSS and OS were 73.5%, 90.7% and 88.7%, respectively, with no significant differences between the three groups. Adverse events of grade 3 or higher were not observed more frequently.

Conclusion: Retrospective real-world data show a significantly longer RPFS for mHSPC patients treated with ADT + AAP compared to ADT only or ADT + docetaxel at short-term follow-up. This can aid in counselling of mHSPC patients in daily clinical practice.

Objective: It is well recognized that nitrous oxide abuse can lead to vitamin B₁₂ deficiency presenting with neurological complications. Nevertheless, establishing this diagnosis can be challenging, and treatment guidelines are lacking.

Methods: In this paper, we present a case series of eight patients and discuss the diagnostic challenges and treatment options for vitamin B₁₂ deficiency due to nitrous oxide abuse presenting with neurologic complications.

Results: Biochemical findings are not always straightforward and complementary testing is often necessary. Magnetic Resonance Imaging (MRI) revealed a longitudinally myelopathy extending over a long segment typically involving the dorsal columns of the cervical cord. To increase the lesion conspicuity, dedicated MRI sequences are needed. In our practice, we recommend the use of T2-weighted images (WI) with fat suppression (FS). Treatment consists of cessation of nitrous oxide abuse and supplementation with intramuscular injections of cobalamin. Due to a lack of treatment guidelines, we also describe the treatment schedule used in our neurology clinic and give a brief overview of treatment options suggested in the literature.

Conclusion: We described diagnostic steps en treatment plans in patients presenting with subacute neurological complications due to nitrous oxide abuse.

Abbreviations: crea: creatinine; HCy: homocysteine; MCA: 2-methylcitric acid; MMA: methylmalonic acid; MRI: magnetic resonance imaging; SEP: somatosensory evoked potentials.

Health care workers (HCWs) are at the frontline for combatting the ongoing severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. To describe recent or past infections, the novel development of serological assays enabled the assessment of the immune response developed in coronavirus disease (COVID-19). Here, we investigate SARS-CoV-2 seroprevalence in high-risk HCWs in a Belgian general hospital after both the first and the second waves. Three different immunoassays were used to determine immune response to SARS-CoV-2 in volunteer HCWs who worked in at least one COVID-19-dedicated ward [emergency department, intensive care unit (ICU) and internal medicine department] in our institution from 8 May 2020 to 19 May 2020 (n = 267) and from 18 January 2021 to 8 February 2021 (n = 189). Risk factors for seropositivity were also assessed using a questionnaire filled out by all participants. We report a steep increase in seroprevalence after the second wave and report a higher seropositivity in HCWs than in the general population. Furthermore, we show that ICU personnel and especially nurses exhibit a proportionally lower SARS-CoV-2 seroprevalence. This study documents the rapid increase in SARS-CoV-2 seroprevalence in highly exposed HCWs in a context of high viral circulation prior to vaccination campaigns. Most importantly, it suggests a lower occupational risk in ICU and illustrates the role of diagnostic labeling and use of personal protective equipment during the COVID-19 pandemic.

Introduction: The B.1.617.2 SARS-CoV-2 or Delta variant, first detected in India, has shown a rapid global spread due to its high transmissibility and now represents more than 99% of the currently circulating variants in Europe.

Methods and result: In May 2021, two ships that had recently arrived in the Port of Antwerp reported crew members with COVID-like symptoms. SARS-CoV-2 RNA was detected in nasopharyngeal swabs in 30 out of 45 skippers and the B.1.617.2 variant was identified via whole genome sequencing. Crew members were isolated or quarantined and repeatedly tested to assess the evolution of their SARS-CoV-2 viral load based on the cycle threshold (CT) values of the PCR reaction. Viral cultures were also taken at day 7 to detect viable virus and were compared with the subjects CT value at that moment. The shipper's clinical condition was closely observed using a digital home monitoring tool. Eleven crew members (37%) required hospitalization, with CT values of SARS-CoV-2 RNA being a good predictive factor for the hospitalization need. Furthermore, a clear correlation between CT values and positive viral culture was observed, hinting infectiousness even longer than 10 days after the intitial positive PCR test.

Conclusion: Our study of 2 Delta variant clusters shows that the initial CT value is a good predictor for hospitalization need and suggests that patients infected with this variant may remain infectious for a longer time period.

Objectives: The Canagliflozin and Renal Events in Diabetes with Established Nephropathy Clinical Evaluation (CREDENCE) trial showed reduced renal and cardiovascular (CV) events in patients with type 2 diabetes (T2D) and diabetic kidney disease (DKD) treated with canagliflozin 100 mg added to Standard of Care (SoC) versus SoC alone. This led to an extension of the canagliflozin 100 mg European marketing authorisation, making canagliflozin the first pharmacological therapy to receive authorisation for the treatment of DKD since the RENAAL and IDNT trials more than 20 years ago. Given the importance of cost-effectiveness analyses in health care, this study aimed to leverage the CREDENCE trial outcomes to estimate the cost-effectiveness of canagliflozin 100 mg from the perspective of the Belgian healthcare system.

Methods: A microsimulation model (CREDENCE Economic Model of DKD), developed using patient-level CREDENCE trial data, was leveraged to model the progression of DKD and CV outcomes, associated costs, and life quality. Unit costs and quality-adjusted life years (QALYs) were sourced from the literature. The time horizon was 10 years and sensitivity analyses were performed.

Results: Canagliflozin was associated with sizable gains in life-years and QALYs over 10 years, and the incremental cost-effectiveness ratio cost offsets associated with reductions in CV and renal complications resulted in overall net cost savings from the perspective of the Belgian healthcare system.

Conclusion: Model-based results suggest that adding canagliflozin 100 mg to SoC can improve outcomes for patients with DKD while reducing overall net costs for the Belgian healthcare system.

Background and aim: The rise in long-term antidepressant use is concerning. Long-term antidepressant (AD) use, much longer than recommended by guidelines, can result in risk of adverse events and generate unnecessary costs. In order to mitigate these risks, patients views about their antidepressants and how to discontinue need to be taken into account. We aimed to explore patients' experiences and views of discontinuing long-term AD, barriers and facilitators of discontinuation and required support.

Methods: Semi-structured face to face interviews were conducted with 14 patients with long-term AD use in primary care. Interviews were analysed thematically.

Results: Participants describe various perceptions about discontinuation. There is fear of returning to their depression, even in those who were ambivalent about the effectiveness and safety of AD continuation. Participants describe low confidence in their own coping resources, fear of stress, and previous negative experiences with stopping. This enhances their perception of AD dependence. Participants indicate the importance of the support of their GP and their social network to help them withdraw.

Conclusion: Discontinuation of long-term antidepressants is a complex issue for patients. More awareness of the lack of evidence and the potential risks of long-term AD continuation is required. By raising the issue and offering support during discontinuation GPs can help their patients stop AD. A greater focus on non-pharmacological approaches of depression in primary care is needed to reduce unnecessary AD use.