Antenatal diagnosis of Miller-Dieker syndrome, ultrasound screening and differential diagnosis

Marta Merola Martinez, Anne Guillaume Published in the journal : April 2022 Category : Clinical Report

We herein describe the antenatal diagnosis of Miller-Dieker syndrome. Ultrasound is the primary means of screening for Miller-Dieker syndrome. However, early presentations of the disease vary widely. With this case report, we want to emphasize facial dysmorphism, and namely retrognathism, as an important feature that can raise suspicion of the diagnosis, especially when associated with ventriculomegaly and intrauterine growth restriction.

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Guillain-Barré and severe myositis induced by hepatitis E virus: case report and literature review

Ewelina Uscilowska (a), Marie De Vos (b), Catherine Thiran (c), Ilisei Dragos (d) Published in the journal : April 2022 Category : Clinical Report

Hepatitis E virus (HEV), which is spread all over the world, is nowadays among the most common causes of viral hepatitis, mainly affecting developing countries. Nevertheless, over the last 10 years, there has been a resurgence of viral hepatitis cases in developed countries. In most cases, HEV infection has been rather benign, but it can at times be complicated by extra-hepatic manifestations, neurological ones being the most common. Based on a clinical case report, we have describe the atypical evolution of HEV infection, which was complicated by Guillain Barré syndrome and myositis.

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COVID-19-induced urological pathologies, a review of the literature based on an observation of Peyronie's disease

Nathan Wirtzfeld*, Gwenola Mambour**, Bertrand Tombal***, Annabelle Stainier*, Roland Vaesen*, Frédéric Leduc* Published in the journal : April 2022 Category : Clinical Report

Coronavirus disease 2019 (COVID-19) is an emerging infectious disease caused by the SARS-CoV-2. This coronavirus proves able to invade endothelial cells, thereby causing systemic inflammation and a blood hypercoagulable state. This systematic review of the literature reports on the various urological disorders observed in the course of COVID-19, starting from a case of Peyronie's disease. Only one case of post-COVID-19 Peyronie's disease has been described in the literature so far. Peyronie's disease should be considered as a possible sequela of COVID-19, and healthcare professionals should inquire about a possible COVID-19 history in patients with Peyronie's disease.

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Comparison of a rapid antigen test versus polymerase chain reaction for detecting respiratory syncytial virus, influenza A/B virus, and adenovirus in children

Claire Sommelette (1), Marc Bourgeois (2), David Tuerlinckx (3) Published in the journal : April 2022 Category : Pediatrics

Viruses are a common cause of respiratory infections in children. This study sought to compare the performance of a rapid antigen test versus the polymerase chain reaction (PCR) method for detecting three viruses (respiratory syncytial virus [RSV], adenovirus [ADV], and influenza A/B ([INF A/B]). We herein report the results of a prospective study conducted as part of the Sciensano (Institute of Public Health in Belgium) acute respiratory infection (ARI) surveillance. Between October 2018 and April 2019, 140 nasopharyngeal cell samples were collected from 135 children hospitalized for ARI at the University Hospital Dinant Godinne (Belgium). The rapid antigen test came back positive for 71/140 (50.7%) samples, while PCR came back positive for at least one virus for 123/140 (87.8%) samples. We determined the sensitivity (Se), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV) of the rapid test compared to the RT-qPCR (PCR), which is used as the gold standard. The results for the rapid antigen test were as follows: Se 80.3%, Sp 100%, PPV 100%, and NPV 85% for RSV; Se 6.25%, Sp 99%, PPV 66.7%, and NPV 78.1% for ADV; Se 87.5%, Sp 98.4%, PPV 87.5%, and NPV 98.4% for INF.

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Anticoagulation in antiphospholipid syndrome

Catherine Lambert Published in the journal : April 2022 Category : Hematology/Oncology

Antiphospholipid syndrome is a severe thrombotic disorder with a high risk of recurrence. For many years, the standard treatment for thrombotic complications of antiphospholipid syndrome has been anticoagulation with anti-vitamin K drugs. Over the past decade, direct oral anticoagulants have emerged as the anticoagulant treatment of choice for venous thromboembolic disease in the general population. The purpose of this article has been to review the modalities and objectives of anticoagulant therapy in antiphospholipid syndrome and to discuss the potential place of direct oral anticoagulants in this indication

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VEXAS syndrome: a new entity at the crossroads of rheumatology and hematology

Séverine Wautier*, Hélène Houssiau*, Nicole Straetmans (1) Published in the journal : April 2022 Category : Hematology/Oncology

VEXAS (Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic) syndrome has been recently described as a late-onset inflammatory disease caused by a somatic mutation in UBA1 in myeloid cells. It mostly affects men over 40 years of age with inflammatory symptoms (recurrent fever, dermatitis), rheumatologic disorders (arthritis, chrondritis), or hematologic abnormalities for several years. The presence of vacuoles in bone marrow myeloid cells is a characteristic (yet non-specific) sign of the disease. VEXAS syndrome may be associated with hematologic diseases, such as myelodysplasia and multiple myeloma, as well as an increased risk of thromboembolic event. The mortality is about 25-35% at 5 years. The disease is usually steroid-resistant. Studies with JAK2 inhibitors have shown promising results and are currently ongoing. Allogeneic stem cell transplantation is currently the only curative option for young, otherwise healthy patients.

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An intense sports effort not so harmless in pediatric patients?

Emmy Hoornaert¹, Jean-Luc Hennecker¹, Simon Vandergugten², Nathalie Blavier¹, Véronique Maes¹ Published in the journal : March 2022 Category : Clinical Report

Pyomyositis is an acute bacterial infection of skeletal muscles arising from transient bacteremia, commonly associated with Staphylococcus aureus. Owing to its higher frequency in tropical regions, the infection has earned itself the title of “tropical pyomyositis”. However, it must be mentioned that the disease is no longer restricted to tropical regions, and its frequency is increasing worldwide. Obturator pyomyositis mimics other common infections involving this area like septic arthritis. Indeed lack of awareness of pyomyositis commonly leads to delays in both diagnosis and adequate treatment. Magnetic resonance imaging (MRI) is the best tool for diagnosing pyomyositis. Treatment consists of bed rest, antibiotics, percutaneous drainage, as well as surgical intervention, depending on diagnostic delay and extension of the infection.

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What is the value of understanding the properties of the endothelial glycocalyx in the management of COVID-19-affected patients?

Alexandre Boulanger1, Anne-Sophie Dincq1, Benoit Rondelet2, Maximilien Gourdin1 Published in the journal : March 2022 Category : Anesthesiology

COVID-19 is an emerging viral infection caused by SARS-CoV-2 coronavirus strain. Following the two-year pandemic, clinicians have made significant progress in their understanding of the clinical disease manifestations, particularly by highlighting the primary role of the endothelial glycocalyx. This micro-fibrillar complex structure is located at the apical pole of the endothelial cell. It constitutes the histological barrier between cell and vascular lumen; in many ways, this structure behaves as an organ in its own way. The pathophysiological study of the endothelial glycocalyx has highlighted its usefulness in understanding both the COVID-19 and its complications. This article thus sought to look at the disease from a different angle, while summarizing the relevant data we have learned over the past two years for the clinicians.

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Bempedoic acid: a new therapeutic option to improve the lipid profile of patients at high cardiovascular risk

Olivier S. Descamps1, Fabian Demeure2, Ann Mertens3, Ann Verhaegen4, Jean-Luc Balligand5, Michel Langlois6, Caroline Wallemacq7, Johan De Sutter8, Nathalie Cals,9 Ernst Rietzschel10 ***On behalf of the Belgian Society of Atherosclerosis/Belgian Lipid Club Published in the journal : March 2022 Category : Actualité thérapeutique

Low-density lipoprotein cholesterol (LDL-C) is now unequivocally considered a causal factor in atherosclerotic cardiovascular disease (ASCVD), and its reduction significantly contributes to preventing the risk of ASCVD.

Statins, ezetimibe, and proprotein convertase subtilisin/kexin Type 9 (PCSK9) inhibitors are the main treatment options available to date, but these drugs’ tolerability, adherence, and reimbursement remain problematic. Furthermore, despite these treatments, a large number of patients with high- and very high cardiovascular risk, are often unable to achieve the recommended LDL-C target levels. Hence, additional new treatments, whether given alone or in combination, are urgently required.

Owing to its mode of action that differs from that of other lipid-lowering therapies, along with its good safety profile, bempedoic acid constitutes the first candidate of a new and interesting therapeutic class for managing hypercholesterolemia. We have herein reviewed the currently available data relating to this drug’s efficacy and safety profile and similarly discussed its potential place in clinical practice, particularly in patients at high and very high cardiovascular risk who are insufficiently treated under ezetimibe along with a maximally tolerated statin or in those who display statin intolerance or contraindications.

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Clinical work-up of adenopathy in general medicine : when should we reassure the patient and when refer the patient for further evaluation?

Inès Dufour1, Géraldine Verstraete1, Juliette Raedemaeker1, Fabio Andreozzi1, Sarah Bailly1, Eric Van Den Neste1, Cédric Hermans1, Marie-Christiane Vekemans1 Published in the journal : March 2022 Category : Hematology/Oncology

Adenopathy investigation requires a systematic approach in order to determine the benign or malignant character of the adenopathy. It is essential to be able to recognize severity signs, which should orientate towards additional assessments, usually consisting of a biopsy. The article was aimed to help the general practitioner in the adenopathy work-up, as well as to review the main differential diagnoses in this setting.

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