Publications of François BOEMER
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See detailComorbidity of sickle cell trait and albinism: a cross-sectional survey in the Democratic Republic of the Congo.
Kambale-Kombi, Paul; Marini Djang'Eing'A, Roland ULiege; Alworong'a Opara, Jean-Pierre et al

in Pan African Medical Journal (2020), 35

INTRODUCTION: Sickle Cell Disease (SCD) and albinism are both recessive hereditary diseases in human kind with a high prevalence in sub-Saharan Africa. This study aimed to determinate the prevalence of ... [more ▼]

INTRODUCTION: Sickle Cell Disease (SCD) and albinism are both recessive hereditary diseases in human kind with a high prevalence in sub-Saharan Africa. This study aimed to determinate the prevalence of sickle cell trait in people living with albinism (PLA). METHODS: a cross-sectional descriptive survey was conducted in PLA attending the "Hôpital du Cinquantenaire de Kisangani". In total, by non-probabilistic convenience sampling, 82 albinos and 139 non-albinos and without any antecedents of albinism in their family were included, selected from students in the Faculty of Medicine and Pharmacy at the University of Kisangani. Blood samples were collected on "dried blood spot" and analyzed by mass spectrometry at CHU of Liège. Data were entered into an Excel file and analysed on SPSS 20.0 (Chicago, IL). RESULTS: forty-six of the 82 albinos (56.1%) were female and 43.9% male with a sex ratio of 1.28. Among albinos, 18.3% had hemoglobin AS (HbAS) and 81.7% hemoglobin AA (HbAA) compared to 18% of subjects with hemoglobin AS and 82% hemoglobin AA in the control group. The difference was not statistically significant (Chi-square=0.003, ddl=1, p=0.9544). CONCLUSION: this study highlighted that the prevalence of the sickle cell trait is high among people living with albinism, but does not differ from that observed in non-albinos in the Democratic Republic of the Congo. It is therefore important to raise awareness among this category of people about sickle cell disease and the importance of its premarital screening. [less ▲]

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See detail244th ENMC International Workshop: Newborn screening in Spinal Muscular Atrophy May 10-12, 2019, Hoofdorp, The Netherlands
Dangouloff, Tamara ULiege; Burghes, Arthur; Bertini, Enrico et al

in Neuromuscular Disorders (2019)

•Efficacy of new treatments in SMA is better in pre than in post-symptomatic patients •NBS is complementary of carriers screening, with different false negatives •Pilot projects of SMA NBS have started or ... [more ▼]

•Efficacy of new treatments in SMA is better in pre than in post-symptomatic patients •NBS is complementary of carriers screening, with different false negatives •Pilot projects of SMA NBS have started or are planned to start in several countries •Questions remain on SMN2 quantification and management of patients with 4 copies •We propose a strategy to launch an evidence-based approach for these patients [less ▲]

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See detailTryptophan catabolism increases in breast cancer patients compared to healthy controls without affecting the cancer outcome or response to chemotherapy
ONESTI, Concetta Elisa ULiege; BOEMER, François ULiege; JOSSE, Claire ULiege et al

in Journal of Translational Medicine (2019), 17

Background: Indoleamine 2,3-dioxygenase catalyzes the conversion of tryptophan to kynurenine, an immunosuppressive metabolite involved in T regulatory cell differentiation. Indoleamine 2,3-dioxygenase is ... [more ▼]

Background: Indoleamine 2,3-dioxygenase catalyzes the conversion of tryptophan to kynurenine, an immunosuppressive metabolite involved in T regulatory cell differentiation. Indoleamine 2,3-dioxygenase is expressed in many cancer types, including breast cancer. Here, we analyze kynurenine and tryptophan and their ratio in breast cancer patients and healthy controls. Methods: Breast cancer patients and healthy controls were prospectively enrolled in our study. All subjects underwent blood sample withdrawal at diagnosis or on the day of screening mammography for the healthy controls. Plasmatic kynurenine and tryptophan were determined on a TQ5500 tandem mass spectrometer after chromatographic separation. Results: We enrolled 146 healthy controls and 202 women with stages I–III breast cancer of all subtypes. All patients underwent surgery, 126 underwent neoadjuvant chemotherapy with 43 showing a pathological complete response, and 43 underwent adjuvant chemotherapy. We observed significantly higher plasmatic kynurenine, tryptophan and their ratio for the healthy controls compared to patients with breast cancer. We observed a lower plasmatic tryptophan and a higher kynurenine/tryptophan ratio in hormone receptor-negative patients compared to hormone receptor-positive cancers. Lobular cancers showed a lower ratio than any other histologies. Advanced cancers were associated with a lower tryptophan level and higher grades with an increased kynurenine/tryptophan ratio. Pathological complete response was associated with higher kynurenine values. The plasmatic kynurenine, tryptophan and kynurenine/tryptophan ratios were not predictive of survival. Conclusions: The plasmatic kynurenine, tryptophan and kynurenine/tryptophan ratio could differentiate breast cancer patients from healthy controls. The Kyn/Trp ratio and Trp also showed different values according to hormone receptor status, TNM stage, T grade and histology. These results suggest a rapid metabolism in breast cancer, but no associations with outcome or sensitivity to chemotherapy were observed. [less ▲]

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See detail(S)un (M)ay (A)rise on SMA: The Newborn Screening Liege’s Experience
BOEMER, François ULiege

in Meeting Report - Reliability of Neonatal Screening Results (2018, October)

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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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See detailRaising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia
Bonham, J; Carling, R; Lindner, M et al

in International Journal of Neonatal Screening (2018)

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See detailNGS for NBS : Are we ready for « Next Generation » Newborn Screening ?
BOEMER, François ULiege

Conference (2017, May 12)

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See detailL'hypophosphatasie.
Winckert, A.; VRANKEN, Laura ULiege; BOEMER, François ULiege et al

in Revue Médicale de Liège (2017), 72(12), 547-551

Hypophosphatasia (HPP) is a rare genetic disorder characterized by the diminution of the enzymatic activity of the alkaline phosphatase (ALP). The disease mainly involves multiple defects of the ... [more ▼]

Hypophosphatasia (HPP) is a rare genetic disorder characterized by the diminution of the enzymatic activity of the alkaline phosphatase (ALP). The disease mainly involves multiple defects of the mineralization of the skeleton including bone fragilities. It will be expressed to varying degrees of severity and will allow to characterize different forms of HPP. Unfortunately, the prevalence of this pathology remains probably underestimated and its diagnosis must be multidisciplinary by taking into account the biochemical assays, the clinical history as well as the radiological imaging. So, in the approach of this diagnosis, a retrospective screening was carried out by the clinical chemistry department of the CHU of Liege. The aim of this study is to potentially identify the affected patients on the basis of their biochemical assays and their anamnesis in order to propose a genetic screening. Unfortunately, no case could be formally identified, which testifies the difficulty to establish a diagnosis of the slight forms encountered mainly in the adults. [less ▲]

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See detailA next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
BOEMER, François ULiege; Fasquelle, Corinne ULiege; D'OTREPPE DE BOUVETTE, Stéphanie ULiege et al

in Scientific Reports (2017), 7(1), 17641

The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview ... [more ▼]

The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview of NGS capacities on DBS-extracted DNA but did not focus on the identification of specific disorders. We thus aimed to demonstrate that NGS was reliable for detecting pathogenic mutations on genomic material extracted from DBS. Assuming the future implementation of NGS technologies into newborn screening (NBS), we conducted a pilot study on fifteen patients with inherited metabolic disorders. Blood was collected from DBS. Whole-exome sequencing was performed, and sequences were analyzed with a specific focus on genes related to NBS. Results were compared to the known pathogenic mutations previously identified by Sanger sequencing. Causal mutations were readily characterized, and multiple polymorphisms have been identified. According to variant database prediction, an unexplained homozygote pathogenic mutation, unrelated to patient's disorder, was also found in one sample. While amount and quality of DBS-extracted DNA are adequate to identify causal mutations by NGS, bioinformatics analysis revealed critical drawbacks: coverage fluctuations between regions, difficulties in identifying insertions/deletions, and inconsistent reliability of database-referenced variants. Nevertheless, results of this study lead us to consider future perspectives regarding "next-generation" NBS. [less ▲]

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See detailNeonatal thyroid-stimulating hormone concentrations in Belgium: a useful indicator for detecting mild iodine deficiency?
Vandevijvere, S; Coucke, W; Vanderpas, J et al

in PLoS ONE (2012)

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See detailHCV genotype 5: an easy to treat population
REENAERS, Catherine ULiege; DELWAIDE, Jean ULiege; GERARD, Christiane ULiege et al

in Acta Gastro-Enterologica Belgica (2004), 67

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