A pediatric case of locked-in-syndrome

Laura Wulleman, Magali De Roy, Sybille Andries, Christine Bonnier, Leslie Danvoye Published in the journal : April 2020 Category : Pediatrics

The locked-in syndrome (LIS) is a rare neurologic disorder, especially in the pediatric population. It is defined by five clinical criteria: (1) persistence of eye opening and presence of vertical eye movements; (2) preserved superior cortical functions; (3) aphonia or severe hypophonia; (4) quadriplegia or quadriparesis; (5) initial communication mode with vertical eye movements or blinking. The LIS should be considered as part of the differential diagnoses appertaining to vegetative states and comas. The most common etiology is a pontine stroke, caused by vertebrobasilar artery thrombosis. We herein describe a pediatric clinical case of this pathology, which represents a challenge in terms of both diagnosis and management.

In this article, we present the etiological factors of ischemic pediatric stroke, a problem with multiple risk factors, with particular attention paid to post-varicella vasculopathy and its therapeutic management.

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Pitfall of diagnostic medicine: an uncommon cause of legs ulcers

Eva Larrañaga, Jean-Baptiste Nicolas, Julian Muguerza Published in the journal : April 2020 Category : General Internal Medicine

Calciphylaxis is an uncommon and complex syndrome characterized by the occlusion of micro-vessels within the subcutaneous tissue, resulting in painful ischemic skin ulcers. Its prognosis is poor, and the disease is associated with a high mortality rate. This rare condition usually affects patients with chronic kidney disease, but it may also occur in patients with normal kidney function. The pathogenesis of calciphylaxis is unlikely to be linked to vascular calcifications, which are frequently seen in the general population. Therapeutic guidelines are still lacking, whereas recent studies have improved the understanding of the condition’s physiopathology, enabling us to expect encouraging therapeutic approaches. Through a clinical case, this paper highlights the condition’s diagnostic difficulties and discusses its physiopathology, as well as treatment procedures.

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Systemic IgG4 disease, a rare cause of severe acute pancreatitis

Rhita Bennis, Tatiana Roy, Yves Nang Atto, Michel Ides Colin Published in the journal : April 2020 Category : Gastroenterology

Autoimmune pancreatitis (AIP) remains little known. It is part of the differential diagnosis of acute non-alcoholic, non-biliary pancreatitis. The clusters of arguments in favor of type 1 AIP diagnosis are the clinical profile (male aged 50-70), the imaging (diffusely enlarged, “sausage-like”, pancreas), the elevation of serum IgG4 beyond the threshold of 135 mg/dl, the histological criteria and the disease corticosensitivity. Type 1 AIP is a component of the systemic IgG4 disease. Lymphadenopathies, pancreatitis and tubulointerstitial nephritis are the most frequent pathologies occurring in IgG4 disease. The evolution is often favorable following treatment with corticosteroids. Given the risk of relapse, a follow-up is necessary. The purpose of this article is to highlight the major elements leading to the diagnosis and treatment of type 1 AIP.

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Post-stroke sexual dysfunction: an update

Morgane Chalon, Irina Tacu, Agnieszka Gierasimowicz-Fontana, Marie-Dominique Gazagnes, Eric Durand Published in the journal : April 2020 Category : Médecine Physique et Réadaptation

Sexuality and intimacy are essential aspects of an individual's quality of life. Sexual dysfunction is an underestimated and underevaluated complication of stroke. The issue is often fudged by patients and sparsely discussed by health professionals. The cause of post-stroke sexual dysfunction is multifactorial, including neuro-anatomical, physical, psychological, and cultural factors. The resumption of sexual life is part of the post-stroke recovery goals. The diagnosis and treatment of sexual dysfunction should undeniably be part of the rehabilitation process. In this narrative review, we explored the literature pertaining to sexuality in stroke patients and discussed the health professional’s behavior towards sexual rehabilitation. The articles were selected based on a PubMed research using the keywords “stroke”, “sexuality”, “stroke rehabilitation”, “sexuality after stroke” as well as combinations of these keywords. The results of this review are presented herein.

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Type 1 Gaucher disease: diagnostic and therapeutic challenges

Déborah Costard, Cédric Hermans Published in the journal : April 2020 Category : Rare Diseases

Gaucher disease is the result of a deficiency of a lysosomal enzyme, glucocerebrosidase, which causes the accumulation of its substrate, glucosylceramide, in macrophages. Bone involvement, (hepato)splenomegaly, bleeding diathesis, thrombocytopenia, increased ferritin levels, and immunoglobulin abnormalities, such as monoclonal gammopathy or hypergammaglobulinemia, are all clinical or biological signs that should prompt a diagnosis of Gaucher disease. Type 1, the most common form, is responsible for visceral damage, while Types 2 and 3 are responsible for neurological disorders. The diagnosis, which is facilitated by using algorithms, is based on the confirmation of the enzyme deficiency and search for the causal mutation. Treatment involves the intravenous administration of the deficient enzyme, such as miglucerase, velaglucerase, or taliglucerase) or the use of oral molecules that inhibit the biosynthesis of glycosylceramide like miglustat or eliglustat.

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A new health care system is needed!

Philippe A. Coucke Published in the journal : April 2020 Category : Médecine et société

Our health care system is not sustainable anymore. A new ecosystem is absolutely mandatory. The key elements of this new system are as follows: Internet of Things (IoT), big data, artificial intelligence, as well cloud and blockchain. In such a system, patients become connected “objects” within the IoT and, hence, produce a real continuous tsunami of data. To transform this enormous amount of data in useful information, we need artificial intelligence. This will allow for the evolution towards refined and personalized diagnostics and treatment decisions.

Worldwide demographics are at the origin of the shift towards connected health care and “offshoring”, both for primary and specialized care. The connection of patient results within a continuous data flux characterized by big volumes, variability and velocity. In order not to bias artificial intelligence, we must ensure data veracity. Automation becomes mandatory in all sectors of human activity, inclusive health care. This will likely be a perfect opportunity to come back to the real values in health care: communication, teamwork, and human empathy.

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2019 innovations in urology

Emilie Delchambre, Marie-Camille Guerin, François Hervé Published in the journal : February 2020 Category : Urology

Patients with lower urinary tract symptoms often report a decrease in quality of life, with a diminished self-confidence leading to social isolation and depression. Their symptoms are related to the dysfunction of the lower urinary tract, including the detrusor or urinary sphincter, and concern the storage, emptying phase, or both.

The year 2019 has been characterized by scientific findings demonstrating the central effect of botulinum toxin after its injection in the detrusor of patients suffering from overactive bladder. New therapeutic targets have also been evaluated. The past year has emphasized the relevant role of psychological comorbidities in non-obstructive voiding disorders, and our treatment armamentarium has thus been improved. Finally, several multidisciplinary guidelines concerning the workout and treatment of nocturia have been established.

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Pulmonology in the era of 4P medicine

Charles Pilette, Antoine Froidure, Audrey Hanson, Thierry Pieters Published in the journal : February 2020 Category : Pneumology

Pulmonology has entered the era of so-called "4P" medicine, which is meant to be preventive, personalized, predictive, and participatory. Combating smoking and improving air quality are essential for the prevention of most respiratory diseases. The summary of innovations we offer in the fields of asthma, lung cancer, and interstitial lung disease clearly illustrates the concepts of predictive and personalized medicine. Health care now takes into account not only observable characteristics, such as asthma with sinus polyposis or non-small cell cancer, but also the mechanisms involved in their pathophysiology, such as eosinophils in asthma or PD1 / PD-L1 expression in lung cancer. All this underlies the concept of endotype. Finally, the patient is offered the appropriate treatment based on biomarkers. We also benefit from recent advances in genetics. In addition to the search for predictive rearrangements underlying the response to certain chemotherapies, the discovery of common genetic variants associated with pulmonary fibrosis will enable us to predict its evolution, or even more, prevent its occurrence by promoting preventive measures within risk groups. Finally, the inclusion of patients in the care process optimizes adherence to treatment and control of the disease, while feeding research in our University Clinics to better understand and treat medical conditions in the near future.

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2019 innovations in otology

Anaïs Grégoire, Monique Decat, Daniele De Siati, Naïma Deggouj Published in the journal : February 2020 Category : Otologie

Cochlear implants have been used for over 40 years for deeply deaf children and adults. In Belgium, their significant cost (approximately 20,000 €) is borne by INAMI: bilaterally up to 12 years and unilaterally beyond. Since December 1, 2019, patients with severe deafness; i.e., hearing thresholds of 70dB, have also been permitted to benefit from an implant.

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Innovations in pelvic gynecological oncology

Mathieu Luyckx, Violette Warzée, Jean-François Baurain, Filomena Mazzeo, Jean-Luc Squifflet Published in the journal : February 2020 Category : Onco-Gynécologie Pelvienne

The last two years have been prolific in pelvic gynecologic oncology, particularly for ovarian cancer, considering the results of large prospective randomized studies. The first, published in the NEJM by Van Driel et al. in January 2018, revealed for the first time the benefits of hyperthermic intraperitoneal chemotherapy (HIPEC) in the initial management of advanced ovarian cancers. These benefits involved both disease-free survival and overall survival without significantly increasing the surgery’s morbi-mortality. The second, also published in the NEJM in December 2018, demonstrated the undeniable benefits of PARP inhibitors (Olaparib) in the initial management of patients with advanced ovarian cancer carrying a BRCA 1 or 2 mutation. The third study, published in February 2019 by Harter et al., showed quite surprisingly that routine lymphadenectomy during cytoreductive surgery for advanced ovarian cancer (Stage IIB-IV) did not provide any benefits in terms of disease-free survival and overall survival. Even in the lymphadenectomy group, half of the patients exhibited lymphnode involvement. Finally, in September 2019, for two other PARP inhibitors tested in the initial management of advanced ovarian cancer, their indisputable usefulness was confirmed.

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