What challenges for the management of rare diseases? Current situation in Europe and Belgium

Nathalie Lannoy (1), Marie-Françoise Vincent (2), Fabienne Lohest (2), Cédric Hermans (1) Published in the journal : February 2019 Category : Rare Diseases

In Europe, a disease is defined as rare when its prevalence is less than 1 in 2,000. The management of patients with rare diseases refers to the complex and heterogeneous status of some 6,000 to 8,000 diseases, 80% of which are of genetic origin. Rare diseases mostly affect children. Due to the large phenotypic heterogeneity, rarity and unusual nature of rare diseases, the affected patients regularly encounter a lack of knowledge regarding their disease, which is most often associated with diagnostic wavering until an accurate diagnosis is made and lack of treatment.

In order to draw attention on and address this issue, the European Commission has been developing initiatives aiming to ensure the development of concrete measures for the patients and their families across its member states for more than two decades.

Responding to this call, Belgium is committed to improving the management of rare diseases and has thus developed a national plan. Multidisciplinary diagnostic structures were created and supported, partnerships with European reference networks were established, and registers were set up in order to centrally and uniformly collect patient data. This article offers an overview of the characteristics of rare diseases, as well as an inventory of existing measures in both Europe and Belgium.

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News on infectious diseases in 2018: What the general practitioner should know

Jean-Cyr Yombi Published in the journal : February 2019 Category : Infectiologie

In various fields of medicine, several innovations and novelties were introduced in 2018, and infectiology does not escape the rule (1). In this article, we have presented the relevant news and novelties that the GP should be aware of.

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2018 innovations in orthopedic surgery and traumatology

Th. Schubert (1), M. Van Cauter (1), O. Barbier (1), D. Mathieu, D. Morcillo, L. Thoreau, S. Vandergugten, N.Pireau, A. Sirbu, V. Druez, N. Irda, L. Kaminski, K. Tribak, D. Putineanu, J-E. Dubuc, X. Libouton, E. Thienpont, J-C. Yombi, X. Geets (2),et al. Published in the journal : February 2019 Category : Chirurgie orthopédique et traumatologie

Arthroplasty has become the standard approach for hip replacement and has even been described as “The operation of the century” in The Lancet. The drive to optimize care has led to many improvements, particularly regarding minimally invasive surgery, thereby enabling faster functional recovery. Thanks to these advances, it is now possible to consider performing a bilateral arthroplasty, when required, in the same operating session, without impacting the final result of both arthroplasties and at a lower cost. The concept of arthroplasty also extends to the structures involved in the movements of the over- and underlying joints, notably with arthroplasties able to restore the pronation-supination movements of the forearm.

The discovery of a soft tissue mass is often trivialized. Yet, when its volume exceeds 5 centimeters and it is located under the fascia, a malignant tumor must be considered, and multidisciplinary care is required. While surgery has long been regarded as the standard therapeutic option, it is now well established that the co-management with radiation therapists offers a better chance of success, especially if it can precede surgery. Strategies combining state-of-the-art radiotherapy techniques to achieve skin saving and surgical management techniques with a very conservative approach to soft tissue management and negative pressure wound therapy significantly improve the tumor control.

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European Society of Cardiology and European Society of Hypertension joint guidelines for the management of arterial hypertension: key messages

Agnès Pasquet, Alexandre Persu Published in the journal : February 2019 Category : Cardiology

The European Society of Cardiology and European Society of Hypertension have published new guidelines regarding management of hypertension. This paper summarizes the key messages of these guidelines.

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The innovative technology of virtual reality

Damien Henrard, Fabienne Roelants Published in the journal : February 2019 Category : Anesthesiology

The role of the anesthesiologist is to care for the patient throughout the perioperative period and to ensure his/her well-being notably through anxiolysis and effective pain management. In addition to conventional drug approaches, an innovative technique is slowly proving its worth in the medical world: virtual reality. While already well known to the general public for its recreational benefits, virtual reality will probably become in the near future an essential tool in the management of pain and anxiety in a wide variety of painful medical procedures. This technology has already been successfully studied in both adult and pediatric patients in a range of potentially painful medical procedures, such as the treatment of wounds in seriously burned patients, dental procedures and routine medical procedures, and has now started to make its way into anesthesiology...

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History of the youngest medical specialty : (Part 4 of 4 parts)

Yves Pirson Published in the journal : January 2019 Category : Ama Contacts

Nephrology as a full-blown specialty was born in the middle of th 20th century with the advent of kidney replacement therapy. As regards knowledge of kidney diseases, decisive steps forward were introduction of percutaneous kidney biopsy (with examination by immunofluorescence staining and electron microscopy), as well as investigation of individual nephron function by micropuncture and more recently molecular biology techniques. As regards therapy, nephrology benefited the tremendous development of phamacology with the advent of diuretics, hypotensive agents and immunosuppressive drugs. But the revolution of the time was actually the invention of hemodialysis and peritoneal dialysis as well as the first success of kidney transplantation, allowing a rapidly growing number of patients worldwide to survive renal insufficiency for decades. Access to renal replacement therapy gave rise to novel ethical issues, which has been the foundation of medical bioethics.

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Pneumothorax and tuberous sclerosis of Bourneville

Published in the journal : January 2019 Category : Rare Diseases

The adult phenotype of tuberous sclerosis of Bourneville (TSB) differs from the typical triad, usually found in children, namely epilepsy, mental retardation, and cutaneous angiofibromas. Recurrent spontaneous pneumothorax episodes may thus be a clinical presentation, secondary to pulmonary cystic lesions present in 40% of TSB women. Based on a clinical case as illustration, we recall the diagnostic criteria of TSB and pulmonary lymphangiomyomatosis (LAM), along with recommendations for treatment and follow-up.

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Tetraparesis and thyrotoxicosis

Louise Ghosez (1), Christian Davin (2), Karim Bochouari (3), David Guery (4), Isabelle Paris (4), Ides Colin (4), Pol Vincent (3) Published in the journal : January 2019 Category : Endocrinologie et Nutrition

Thyrotoxic hypokalemic periodic paralysis is rare, especially in Caucasians. Affected patients have muscle weakness secondary to hypokalemia associated with hyperthyroidism. We report the case of a 23-year-old patient who was admitted to the emergency department for sudden-onset tetraparesis without any trauma. Tetraparesis was accompanied by severe hypokalemia. Etiologic investigations have led to the diagnosis of Graves' disease. Hypokalemic periodic paralysis is a rare neuromuscular complication of hyperthyroidism. It originates from hypokalemia secondary to intracellular transfer caused by both Na+/K+ ATPase pump overstimulation and abnormal potassium efflux due to a mutation in the potassium efflux channel. The clinical management consists in conservative potassium supplementation and administration of ß-blockers. The neuromuscular deficit is transient and reverses rapidly after the correction of hyperthyroidism.

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Cushing's syndrome secondary to ectopic ACTH secretion from pheochromocytoma

Anne Dysseleer (1), Dominique Maiter (2) Published in the journal : January 2019 Category : Endocrinologie et Nutrition

Pheochromocytoma is a rare cause of Cushing’s syndrome (<0.5% of cases) due to ectopic ACTH secretion. This condition proves very challenging regarding both diagnosis and treatment. Our case report illustrates the necessity of a thorough endocrinological investigation for all adrenal incidentalomas, particularly in the presence of clinical symptoms indicative of excessive hormonal secretion. We also show that Cushing’s syndrome secondary to ectopic ACTH secretion displays some typical characteristics as compared to the more common pituitary Cushing’s disease. Furthermore, we conducted a literature review regarding Cushing’s syndrome due to ectopic ACTH secretion from pheochromocytomas.

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Hematology & dermatology

Déborah Debois (1), Liliane Marot (1), Eric Van Den Neste (2), Alessandra Camboni (3), Isabelle Tromme (1) Published in the journal : January 2019 Category : Dermatology

We here briefly summarize the “PEAUse dermatologique” meeting organized in February 2018 by the Department of Dermatology of the Saint-Luc University Clinics and dedicated to cutaneous lymphomas. Professor E. Van Den Neste presented the most frequent cutaneous lymphomas, their treatments, as well as several clinical cases from the Department of Hematology. Professor A. Camboni focused on the histological aspects.

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