Cystic fibrosis newborn screening implemented in Belgium in 2019

Patrick Lebecque (1), Olivier Lebecque (2), Marijke Proesmans (3), Teresinha Leal (4) Published in the journal : November 2019 Category : Pneumologie pédiatrique

In 2019, a national program of cystic fibrosis newborn screening is scheduled to be eventually implemented in Belgium. An IRT/DNA algorithm has been chosen, pretty similar to the French algorithm. In both countries, R117H is almost always combined in cis with a 7T sequence in the intron 8 acceptor splice site. It was included in the initial panel of CFTR variants looked for. This paper critically describes the program’s steps, while emphasizing the crucial roles of general practitioners and local pediatricians.

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Endocrine disruptors

Corentine Vanlier (1), Marie Baeck (1), Anne-Simone Parent (2), Christine Lafforgue (3), Caroline Peeters (1), Anne Herman (1) Published in the journal : October 2019 Category : Dermatology

We herein report on the “PEAU’se dermatologique” meeting focused on endocrine disruptors, which was held on October 22, 2018 and organised by the Department of dermatology of the Cliniques universitaires Saint-Luc. Doctor AS. Parent first described the interactions taking place between endocrine disruptors and child development. Next, Doctor CH. Laforge presented the legislation on endocrine disruptors and talked about absorption mechanisms. Finally, the experts provided us with advice on how to limit exposure to and, thus, avoid the undesirable effects of these products.

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A rare cause of hypercalcemia

Charlotte Lepere (1), Jean-Cyr Yombi (1), Eric Van den Neste (2), Philippe D’Abadie (3), Halil Yildiz (1) Published in the journal : October 2019 Category : Internal Medicine

Hypercalcemia is a condition that must not be mistaken, because it can be life-threatening. Its severe form must be rapidly treated. We present the case of 66-year-old man presenting with neurologic symptoms and cardiac alterations secondary to severe hypercalcemia. The diagnostic work-up revealed excessive production of calcitriol secondary to Richter’s syndrome. After treatment of hypercalcemia and chemotherapy, the neurological symptoms and electrocardiographic changes completely disappeared. The aim of this article is to discuss the main etiologies of hypercalcemia, its clinical manifestations, and the principles of its management.

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A rare cause of hypokalemia

Jean Henry (1), Eugénie Lagneaux (1), Michel Lambert (2), Jean-Christophe Marot (1), Jean-Charles Coche (3) Published in the journal : October 2019 Category : Internal Medicine

Introduction. Hypokalemia is often discovered accidentally during routine check-ups. In some cases, however, it may be accompanied by severe symptoms like rhabdomyolysis, potentially leading to life-threatening cardiac rhythm disturbances.

Clinical case. We report the case of a 60-year-old woman admitted to the emergency department with marked anorexia, general weakness, diarrhea, and abdominal pain, which had progressively worsened over the last few weeks. Initial blood analyses showed hypokalemia (1.44mmol/L) as well as rhabdomyolysis (CK 6561 U/L). The cause of her condition could not be identified based on etiological investigations, whereas thorough history taking revealed massive chronic ingestion of cola (10 liters a day).

Discussion. The consumption of high quantities of cola can lead to hypokalemia through the effects of caffeine, glucose, and fructose. Caffeine induces severe hypokalemia by two mechanisms: intracellular redistribution of potassium and increased renal excretion of potassium. Additionally, substances with high fructose content cause osmotic diarrhea with secondary hypokalemia. The high glucose concentration in cola also induces hyperinsulinism, which is associated with intracellular redistribution of potassium.

Conclusion. Chronic and massive consumption of cola can lead to hypokalemia through intracellular potassium shifts, along with osmotic diarrhea caused by high fructose concentrations. Primary care physicians should inquire about soda consumption among their patients when confronted with unexplained cases of refractory hypokalemia.

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Predictive factors of macroangiopathy in type 2 diabetic patients

Imen Sebai, Ibtissem Oueslati, Nadia Khessairi, Meriem Yazidi, Emna Talbi, Fatma Chaker Mélika Chihaoui Published in the journal : October 2019 Category : Diabétologie

Cardiovascular complications are the first cause of mortality in patients with type 2 diabetes mellitus. The aim of our study was to determine the risk factors related to diabetic macroangiopathy. To meet this purpose, we conducted a cross-sectional study among 71 patients with type 2 diabetes mellitus. Patients were divided into two groups according to presence or absence of macroangiopathy. The examination included full medical histories, somatic examination and laboratory tests, in particular brain natriuretic peptide (BNP) measurements. The univariate analysis showed a significant association between macroangiopathy and male gender (p = 0.029), HbA1c > 9.5% (p = 0.008), a cumulative number of cardiovascular risk factors>5 (p <10-3), hypertension, presence of microangiopathy (p <10-3) and BNP plasmatic level > 24 pg/mL (p=0.007). In multivariate analysis, predictor factors were a cumulative cardiovascular risk factors > 5 (OR=13.9 [95%CI:1.4 -137.6], p = 0.024), presence of microangiopathy (OR=22 [95%CI: 2.2 - 215.4], p = 0.008) and HbA1c>9.5% (OR = 36.6 [95%CI:2.6 - 505]; p = 0.007). Thus, cardiovascular diseases were the consequence of the entanglement of traditional risk factors with the involvement of chronic hyperglycemia.

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35 recommendations for end-of-life support at the Grand Hôpital de Charleroi

Emmanuelle Claes (1), Vanessa Baio (2), Yannick Courtin (3) Published in the journal : October 2019 Category : Soins palliatifs

Caregivers in charge of end-of-life patients are often helpless and experience difficulty when their patients do approach death. Heavy emotions manifest and several questions come up. This is a common observation.

Most naturally, this emphasizes the necessity of a project involving caregivers’ knowledge of death outside palliative care. Such a project was built over 3 years of meetings, consultations with eight teams of caregivers, questions, seminar sessions and presentations, transcripts, proofreading, in addition to numerous corrections.

The outcome is a set of 35 recommendations stemming from the «practical wisdom» of caregivers. This document bears witness to a process of care within this field, a process which designates a movement, bringing one towards the other in order to meet him on his own path [6]. This approach brought together caregivers from eight disciplines around the same questioning in order to broaden and ameliorate their own skills, while sharing them with the different stakeholders working on the quality of care within an institution.

This project is now evolving and primarily designed to encourage consultation and implementation of the recommendations, while further seeking for partnerships in this field.

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Improving ovarian cancer management through centralized surgery: experience gained by the UNGO after one year of collaboration and obtaining ESGO accreditation in 2019

Mathieu Luyckx (1,6,8), Mathieu Jouret (1,2), Frédéric Grandjean (1,3), Marc Waterkeyn (1,4), Jean-Paul Van Gossum (1,5), Nathanael Dubois (1,5), Jean-François Baurain (7,8) Jean-Luc Squifflet (1,8) Published in the journal : October 2019 Category : Gynécologie et Andrologie

Ovarian cancer treatment combines optimal surgery with platine-based chemotherapy. The quality of the surgery, which is the cornerstone of the treatment, must be complete (no residual disease after the procedure). Owing to its central role, the European Society of Gynaecological Oncology (ESGO) has published objective criteria to evaluate the quality of surgery quality, providing gynecological oncology centers with the opportunity to be accredited for ovarian cancer surgery. In 2016, a centralisation network for ovarian cancer surgery was formed. Like others Belgian networks for rare cancers, this network primarily aimed to increase the experience of surgeons within the reference centers by increasing the number of cases, yet still enabling surgeons in other centres to perform oncological pelvic surgery and become referents of their respective centres. The UNGO (UCL Network of Gynaecological Oncology) centralizes all surgeries in the Cliniques Universitaires Saint-Luc (CUSL), with the remaing of the treatment and check-ups staying under the responsibility of collaborating centers. Five hospitals have been involved: CUSL Brussels, CHWaPi Tournai, Saint-Michel, Sainte-Elisabeth, and Saint-Jean in Brussels. After a 1-year collaboration, 40 patients underwent ovarian cancer surgery within the UNGO, and 91% of them underwent complete surgery with no residual disease (R0). The results of this first year of collaboration were deemed satisfying and we will thus continue on this path. We have thus demonstrated that centralization of ovarian cancer surgery is possible in Belgium. In 2019 the ESGO awarded for 5 years an accreditation to UNGO network and CUSL for cancer surgery advanced ovarian. Two additional centers since joined the UNGO: CSPO and Roccourt.

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Severe hypomagnesemia induced by proton pump inhibitors: description of two cases and review of the literature

Matveï Apraxine(1,2), Pierre Levecque†(3), Patrick Druez(1), Karin Dahan(4) Jean-François Cambier(2), Jean-Philippe Lengelé(2) Published in the journal : September 2019 Category : Gastroenterology

Proton pump inhibitors, an essential treatment of gastric acid-related disorders, can cause hypomagnesemia, associated with functional hypoparathyroidism and hypocalcemia. Symptoms may be either minor like cramps or more severe like rhabdomyolysis, cardiac arrhythmias, or epilepsy. We have herein reported on two cases presenting with severe hypomagnesemia, which quickly resolved following drug withdrawal. We have additionally reviewed the underlying mechanism, which is only partially elucidated to date, though possibly linked to a reduced intestinal absorption of magnesium, which as dependent on the channel TRPM6 (transient receptor potential melastatin type 6).

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Dermatology and internal medicine

Marine Beeckman (1), Deborah Debois (1), Didier Bessis (2), Marie Baeck (1) Published in the journal : September 2019 Category : Dermatology

We herein report on the «PEAUse dermatologique» meeting of the Cliniques universitaires Saint-Luc held on May 14, 2018, which was focused on the topic “dermatology and internal medicine”.

For this occasion, Professor Didier Bessis, head of the Dermatology department of the CHU Montpellier and specialist in the care of rare dermatological diseases, presented us some clinical cases and four examples of new clinical entities in dermatology.

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Familial pulmonary fibrosis and telomeropathies

Thomas Planté-Bordeneuve (1,2), Xavier Poiré (3), Anne De Leener (4), Antoine Froidure (1,2) Published in the journal : September 2019 Category : Pneumology

Germline mutations in genes related to telomere biology are the first cause of familial pulmonary fibrosis. The progressive shortening of these protective structures successively leads to cell cycle arrest, cellular exhaustion, and the possible development of lung fibrosis. This process may also involve hematopoiesis, the liver, and the skin. The most common pulmonary feature is an early-onset, rapidly progressive pulmonary fibrosis, leading to terminal respiratory insufficiency.

The multisystemic features, early disease onset, and familial component are key hallmarks of the disease. Diagnosis is primarily based on measuring telomere length and identifying a germline mutation. The management of the affected patients is rather complex, because of their rapidly progressive fibrosis, while the effects of antifibrotic drugs are limited, and the patients prone to develop drug-related undesirable events.

The Cliniques universitaires Saint-Luc have set up a specific program, in close collaboration with pneumologists, hematologists, and geneticists, designed to offer optimal care to this patient population.

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