Publications of Hedwige BOBOLI
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See detailDiffuse alveolar haemorrhage in infants: Report of five cases
Gkogkou, Efthymia ULiege; roux, Isabelle; KEMPENEERS, Céline ULiege et al

in Respiratory Medicine Case Reports (2020)

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See detailAvancées thérapeutiques et évolution vers une médecine personnalisée pour les patients atteints de mucoviscidose
BOBOLI, Hedwige ULiege; Pirson, Jessica; SEGHAYE, Marie-Christine ULiege et al

in Revue Médicale de Liège (2020)

Cystic fibrosis is a genetic disorder responsible for the production of a defective transmembrane protein. In recent years, new protein modulators have been developed. They aim to treat the underlying ... [more ▼]

Cystic fibrosis is a genetic disorder responsible for the production of a defective transmembrane protein. In recent years, new protein modulators have been developed. They aim to treat the underlying cause of the disease. The results on the biomarkers of the function of the CFTR protein and on the clinical outcomes are very encouraging. However, there is an individual heterogeneity in the response to modulators within a same genotype. Furthermore, clinical trials focus on the most common mutations in the CFTR gene, in particular DF508. Intestinal organoids, a new model of ex vivo study, could offer a quick approach to increase access to effective treatment for all patients with cystic fibrosis regardless of their CFTR genotype. Organoids could enable personalized treatment of cystic fibrosis. [less ▲]

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See detailDiffuse alveolar hemorrhage in infants : Report of five cases
Gkogkou, Efthymia ULiege; BROUX, Isabelle ULiege; KEMPENEERS, Céline ULiege et al

in Respiratory Medicine Case Reports (2020), 31

Diffuse alveolar hemorrhage (DAH) is a rare life-threatening condition in children. In this entity, the bleeding originates from the pulmonary microvasculature as a result of microvascular damage leading ... [more ▼]

Diffuse alveolar hemorrhage (DAH) is a rare life-threatening condition in children. In this entity, the bleeding originates from the pulmonary microvasculature as a result of microvascular damage leading to blood leakage into the alveolar spaces. DAH can occur as an isolated medical entity or may be associated with other organ system injury or dysfunction. The classic triad of symptoms includes hemoptysis, anemia and diffuse pulmonary infiltrates. Hemoptysis is the usual presenting symptom but is not constant. A variety of diseases is associated with the development of DAH. Current classification organize the etiologies of diffuse alveolar hemorrhage based on the presence of severe immune disorders (such as systemic vasculitis and collagenosis) or non-immunodeficiency disorders (with an identified cardiac or non-cardiac origin, or idiopathic). The five cases of DAH presented in this study were all diagnosed in full-term infants, four males and one female, with normal neonatal adaptation and without family history of notable diseases. In all cases the diagnosis was made between the age of three and eighteen weeks-old. Moreover, all five patients, at the time of diagnosis, presented with hemoptysis, mild or severe dyspnea, anemia and abnormal chest X-rays. Consequently, the diagnosis of DAH was strongly suspected and, eventually, confirmed by bronchoscopy. Additional laboratory tests, as well as selected serologic and radiographic studies were performed in order to identify a specific etiology. The final diagnoses reflect a variety of causes: infections, idiopathic pulmonary hemosiderosis, accidental suffocation and Heiner syndrome. Treatment included oral corticosteroids except from one patient that received antimicrobial therapy. [less ▲]

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See detailDepistage neonatal de la mucoviscidose : vers une implementation nationale en Belgique en 2019.
BOBOLI, Hedwige ULiege; BOEMER, François ULiege; MASTOURI, Meriem ULiege et al

in Revue Médicale de Liège (2018), 73(10), 497-501

Cystic fibrosis has in Belgium a prevalence of 1/2.850 births, with a median age at diagnosis of 7 months according to the latest data from the Belgian registry of 2015. In our country, the diagnosis of ... [more ▼]

Cystic fibrosis has in Belgium a prevalence of 1/2.850 births, with a median age at diagnosis of 7 months according to the latest data from the Belgian registry of 2015. In our country, the diagnosis of cystic fibrosis is always based on signs and symptoms of the disease. However, because the scientific literature has largely demonstrated the benefits of neonatal screening for cystic fibrosis, it will be implemented in Belgium before the end of 2019. The screening programme should be framed by strict quality criteria in order to obtain the best performance with the least possible inconvenience. [less ▲]

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