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Prenatal diagnosis for CF using High Resolution Melting Analysis and simultaneous haplotype analysis through QF-PCR KU Leuven

Aspasia Destouni
BACKGROUND: High Resolution Melting (HRM) Analysis is a validated, robust, low-cost, high throughput CF screening method. Here, we report the development and retrospective evaluation of the diagnostic value of a novel multiplex HRM, genotyping and haplotyping method for CF prenatal diagnosis (generic HRM/haplotyping). METHODS: 80 study samples from 20 carrier couples referred for PND (whole blood in EDTA and CVS or amniotic fluid) were genotyped ...

Introduction to Section I: the relevance of CF diagnostic tools for measuring restoration of CFTR function after therapeutic interventions in human clinical trials KU Leuven

Christiane De Boeck
The pilocarpine sweat test, and in vivo assessment of CFTR function via nasal potential difference or intestinal current measurement are important tools to confirm the diagnosis of CF in subjects with suggestive symptoms. Since these tests reflect CFTR function and thus relate to the basic disease process in CF, changes in these parameters are also being used to assess the pharmacologic effect of compounds aimed at restoring CFTR function. ...

What can the CF registry tell us about rare CFTR-mutations? Vrije Universiteit Brussel

Elke De Wachter, M. Thomas, Simeon Situma Wanyama, Sara Seneca, Anne Malfroot

BACKGROUND: CFTR2 provides clinical and functional information of the most common CFTR-mutations. Rare mutations (RMs) occur in only a few patients with limited reported clinical data. Their role in CF-disease liability is hardly documented.

METHODS: Belgian CF-Registry 2013 data were analyzed to identify CF with at least 1 RM (CF+RM). Clinical data and sweat chloride of CF+RM were compared to CF-controls, carrying 2 class 1 to 3 ...

Distal intestinal obstruction in CF patients Vrije Universiteit Brussel

Jeroen Maus, Fazia Mana, Hendrik Reynaert, Daniel Urbain

Distal intestinal obstruction syndrome (DIOS) - the incomplete of complete intestinal obstruction by intestinal contents in the terminal ileum and proximal colon- is frequently seen in cystic fibrosis (CF) patients. Diagnosis is based on suggestive symptoms of abdominal pain in the right lower quadrant, a palpable mass on examination and signs of obstruction on plain radiography. Treatment consists of intensive laxative treatment with oral ...

Diagnosis and treatment of C3 glomerulopathy in a center of expertise KU Leuven

Bert van den Heuvel
C3 glomerulopathy is a rare renal disease that has been distinguished as a renal disease for about 10 years. It is caused by an excessive activation of the alternative complement pathway in the circulation, which leads to deposition of complement factor C3 in glomeruli. It is diagnosed based on clinical presentation, histological patterns in a kidney biopsy and tests of the complement pathways. It can closely resemble immune complexmediated ...

Acute Cardiovascular Care Association position statement for the diagnosis and treatment of patients with acute myocardial infarction complicated by cardiogenic shock: A document of the Acute Cardiovascular Care Association of the European Society of Ca.. Hasselt University

Uwe Zeymer, Hector Bueno, Christopher B. Granger, Judith Hochman, Kurt Huber, Maddalena Lettino, Susanna Price, Francois Schiele, Marco Tubaro, Pascal VRANCKX, et al.
Most of the guideline-recommended treatment strategies for patients with acute coronary syndromes have been tested in large randomised clinical trials. Still, a major challenge is represented by patients with acute myocardial infarction admitted with impending or established cardiogenic shock. Despite early revascularization the mortality of cardiogenic shock remains high and roughly half of patients do not survive until hospital discharge or ...

Elevated CA 15.3 in Newly Diagnosed Breast Cancer: A Retrospective Study KU Leuven

Jannes Heylen, Ann Smeets, Patrick Neven, Caroline Weltens, Annouschka Laenen, Hans Wildiers
PURPOSE: To examine the relationship between baseline elevated CA 15.3 (>30 kU/L) and the prevalence of primary or secondary metastatic disease in breast cancer. METHODS: We performed a retrospective, single-center cohort study on patients with newly diagnosed breast cancer and baseline CA 15.3> 30 kU/L, diagnosed between 2000-2015. Information on tumor characteristics, pre-treatment CA 15.3, staging results, treatment approach, disease ...