Breast cancer occurs in 12% of the female population. If in most of the case this affection is sporadic, heredity plays a role in 10-15% of the cases. In certain personal of familial situations, a genetic analysis can be proposed to the patients after genetic counselling. When a germline mutation is found in a family, a predictive genetic testing can be proposed to “at risk” relatives to take preventive measures. General practitioners, caretaker of the familial history, plays an important role in the follow-up and support, as in the information’s transmission in the family.
Alexandre Jacquerie ¹, Elodie Georges¹, Charlotte Van Ende², Gabriela Migali², Benoit Ghaye³, Michel Lambert¹Published in the journal : April 2017Category : Internal Medicine
We report the case of a 43-year-old woman presenting with atypical back pain caused by a tumor-like paraspinal mass. This turned out be a rare presentation of granulomatosis with polyangiitis (GPA) or Wegener's disease.
Key Words
Back pain, tumor-like mass, thoracic spine lesion, GPA
Laurine Sacré (1), Isabelle Tromme (1), Jean-François Baurain (2), Benoit Lengelé (3), Marie Baeck (1)Published in the journal : April 2017Category : Dermatology
We report here on the "PEAU’se dermatologique" meeting, held on January 16, 2016, focusing on melanoma diagnosis and new treatments. Doctor I. Tromme presented her thesis results concerning melanoma detection by means of optical and digital dermoscopy. Professor JF. Baurain provided us with a better understanding of new systemic therapies for metastatic melanomas. Lastly, Professor B. Lengelé shared with us his experience in electrochemotherapy for managing primary or metastatic cutaneous tumors.
Key Words
Melanoma, optical and digital dermoscopy, targeted therapy, elcetrochemotherapy
Georges de Bilderling (1), Claire Geurten (1), Jean Evrard (1), François Kanen (1), Laurent Houtekie (2), Alain Poncelet (3), Karlien Carbonez (4), Stéphane Moniotte (4)Published in the journal : April 2017Category : Pediatrics
A 2-month-old baby is admitted to our unit for bronchiolitis. Due to the infant's prolonged symptoms with predominant feeding difficulties and because of a heart murmur noted on auscultation, cardiac ultrasound is performed, resulting in the diagnosis of ALCAPA syndrome (Anomalous Left Coronary Artery from Pulmonary Artery). ALCAPA is a rare but severe cardiac malformation, with early diagnosis and treatment being key to a good prognosis. Bronchiolitis can provoke heart failure, whereas clinical features of heart failure may mimic bronchiolitis. This clinical case underlines the need for performing a complete clinical examination, along with oriented diagnostic investigations, when confronted with a baby suffering from a respiratory condition whose severity or evolution appears unusual.
Edeline Kaze (1), François D’heygere (2)Published in the journal : April 2017Category : Rare Diseases
The combined syndrome of juvenile polyposis / inherited hemorrhagic telangiectasia (JD-HHT Syndrome) is rare, caused by mutations in the MADH4 gene. Affected individuals exhibit the clinical manifestations of both pathologies and are at increased risk of gastrointestinal cancer (1).
Alexandre Hupez (a-b), M.D., Christine Detrembleur (c), Ph.D, Fernand Van Innis (a), M.D., Serge Troussel (a), M.D., Xavier Libouton (b-c), M.D, Ph.D., Thierry Lequint (a), M.D.Published in the journal : April 2017Category : Orthopedics
This study sought to evaluate the use of collagenase injections for Dupuytren's contracture (19 compared to fasciectomy, with 19 patients assessed in each group. We measured loss of metacarpophalangeal (MCP) and proximal interphalangeal (PIP) joint extension at baseline and 12 months post-injection, along with its impact on patients' daily life, pain, and satisfaction. Whereas there was no significant between-group difference observed for loss of MCP joint extension, PIP joint extension proved lower for the surgical group compared to the injection group. The injection group exhibited significant improvements in terms of pain, daily activities, and satisfaction regarding the MCP joints, with no between-group differences observed for the PIP joints.
This article presents the association bisoprolol/perindopril (Bipressil®), along with its indications and advantages, in the cardiovascular disease setting.
Léopold Pirson (a), Yves Humblet (b), Ingrid Ferreira de Castro Moutinho (c), Christine Galant (c), Dominique Maiter (d)Published in the journal : March 2017Category : Oncologie
Numerous cases of Krukenberg tumors have been described in the literature, with several reviews on this topic published over these last three decades. The precise origin of these metastatic tumors is often unknown, in spite of the availability of biological and immunohistochemical markers. This case-report sought to present the diagnostic and therapeutic challenges raised by Krukenberg tumours in the course of a poorly-differentiated adenocarcinoma of atypical presentation, along with a review of the literature on this topic. We report the case of a 29-year-old patient referred to the endocrinology department for increased bone turn-over and elevated parathormone levels, in the context of chronic lower back pain. Further examinations revealed bilateral Krukenberg tumors, multifocal osteoblastic bone metastases, as well as probable peritoneal dissemination. While the primary origin of the metastases is still unknown, they are likely of gastro-intestinal origin, following careful exclusion of breast carcinoma. Whereas there are no guidelines on the management of Krukenberg tumors, actual therapy primarily consists of bi- or tri-chemotherapy with bilateral adnexectomy, leading to extended survival from a few months to several years. Yet prognosis remains poor with a median survival time of only 16 months, unless both primary tumor and metastases can be fully resected, with then considerably extended survival.
Dan Putineanu, Thomas SchubertPublished in the journal : March 2017Category : Diabétologie
As part of the multidisciplinary management of the diabetic foot, surgery plays a key role in the prevention and control of infection, in bone and soft tissue reconstruction, in limb preservation, and in the execution of amputation meant to be as distal as possible while offering a correct amputation stump. To achieve these objectives, plenty of surgical techniques are currently available.
Duplex sonography is still regarded as the first-choice imaging technique for the work-up of diabetic patients with suspected peripheral artery disease. Should additional information be required prior to digital subtraction angiography (DSA), computed tomography angiography (CTA) or magnetic resonance angiography (MRA) can be performed. The article has outlined in a comprehensive manner both the advantages and shortcomings of these techniques. DSA, an invasive technique, is still considered the gold standard, offering the highest spatial resolution and image quality, in addition to the possibility of performing endovascular revascularization of the limb within the same session.