Publications of François BOEMER
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See detailPerformance of Sickle SCAN® in the Screening of Sickle Cell Disease in Kisangani Pregnant Women and Attitude towards Results
NEEMA UFOYMUNGU, Yvette; JUAKALI SIHALIKYOLO, Jean Jeannot; Marini Djang'Eing'A, Roland ULiege et al

in Open Journal of Blood Diseases (2020)

In the Democratic Republic of the Congo, the sickle cell trait carriage is estimated at 25%. Routine neonatal screening is not a common practice, leading to a very late diagnosis. In this study, the ... [more ▼]

In the Democratic Republic of the Congo, the sickle cell trait carriage is estimated at 25%. Routine neonatal screening is not a common practice, leading to a very late diagnosis. In this study, the screening of pregnant women was assessed as well as their attitudes. This is an analytical cross-sectional study conducted in 245 pregnant women, sampled by convenience in four hospitals in Kisangani city (Democratic Republic of Congo) and screened using the sickle SCAN® test, from February 1 to July 31, 2019. The sensitivity and specificity of the latter were determined using liquid chromatography coupled with mass spectrometry as the gold standard. The attitudes of 240 pregnant women without previous screening history were assessed upon the announcement of the results. The sensitivity of screening for hemoglobin (Hb) AA and Hb AS was 96.69% and 98.39%, respectively; while the specificities were 99.43% and 96.32%, respectively. The Kappa coefficient (κ) was excellent. Concerning attitudes, Hb SS pregnant women and 55.17% of AS pregnant women worried when the results relating to their hemoglobin status were announced. The sickle SCAN® test was found reliable for sickle cell disease screening in Kisangani. The announcement of the results, mainly positive, raises worry among pregnant woman. Therefore, we recommend the involvement of a clinician psychologist for pre-screening counselling and for results announcement, as well as early newborns and unmarried teenage girls screening [less ▲]

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See detail(S)un (M)ay (A)rise on SMA: the newborn screening experience in Southern Belgium
BOEMER, François ULiege

Conference (2020, March 06)

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See detailSystematic Screening of Neonatal Sickle Cell Disease with HemoTypeSCTM Kit-Test: Case Study and Literature Review
TEBANDITE KASAI, Emmanuel; BOEMER, François ULiege; Marini Djang'Eing'A, Roland ULiege et al

in Open Journal of Blood Diseases (2020)

HemoTypeSCTM test is a new cheap, faster, and appropriate screening method for neonatal diagnosis of sickle cell disease. The literature reports a few cases of its applicability. This study extends the ... [more ▼]

HemoTypeSCTM test is a new cheap, faster, and appropriate screening method for neonatal diagnosis of sickle cell disease. The literature reports a few cases of its applicability. This study extends the cases study and reviews the available literature. The sample consisted of 99 subjects, including 87 newborns (36 girls and 51 boys; 1.9 - 4.9 kg BW) sampled among 566 babies bone at six hospitals in Kisangani city (Democratic Republic of Congo) during March-April 2019; height infant-adolescents (<18 years); and four adults. Duplicate blood samples of 75 newborns, spotted on filter paper, were transferred to Liège in Belgium for LC-MS test confirmation. Of 99 subjects, 74.74% tested HbAA, 24.26% HbAS and 1% HbSS. The prevalence of HbAS compared to the HbAA phenotype was 15/60 (20%) by HemoTypeSCTM and 14/61 (18.7%) by LC-MS. The concordance between the two methods was 98.3% or a discordance of 1.7%. The findings support the validity of the HemoTypeSCTM test as a sensitive, specific point of care test, cheap and reliable for poor African populations. [less ▲]

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See detailActualités thérapeutiques dans les erreurs innées du métabolisme
Debray, François-Guillaume ULiege; WEEKERS, Laurent ULiege; Dadoumont, C. et al

in Revue Médicale de Liège (2020), 75(5-6), 420-425

Inborn errors of metabolism (IEM) represent a vast group of orphan genetic disorders associated with enzyme deficiencies, substrates accumulation and products depletion. For several decades, the ... [more ▼]

Inborn errors of metabolism (IEM) represent a vast group of orphan genetic disorders associated with enzyme deficiencies, substrates accumulation and products depletion. For several decades, the cornerstone of life-saving therapies in IEM was based on extreme manipulations of the nutritional intakes. Such outstanding dietary engineering is still relevant today, but new therapeutic avenues have emerged last years, based on better pathophysiological understanding and technological advances. In this paper, we summarize current and new therapeutic options in the field of IEM.Les erreurs innées du métabolisme (EIM) représentent un groupe de conditions génétiques associées à une déficience enzymatique causant une accumulation du substrat en amont de la réaction et une déficience du produit en aval. Pendant des décennies, la pierre angulaire du traitement de ces affections a été basée sur des régimes drastiquement restrictifs. Ces manipulations diététiques extrêmes sont encore aujourd’hui d’actualité, mais l’arsenal thérapeutique s’est considérablement élargi ces dernières années, basé sur de meilleures connaissances physiopathologiques et sur des progrès technologiques et pharmacologiques. Dans cet article, nous résumons les différentes stratégies et nouveautés thérapeutiques dans le domaine des erreurs innées du métabolisme. [less ▲]

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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 detailUnderivatized Method for the Newborn Screening of Aminoacids, Acylcarnitines and LPC’s
BOEMER, François ULiege

Scientific conference (2019, December 17)

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See detailGuthrie 3.0
BOEMER, François ULiege

Conference (2019, December 07)

Detailed reference viewed: 36 (2 ULiège)
See detail(S)un (M)ay (A)rise on SMA The newborn screening program in Southern Belgium
BOEMER, François ULiege

Conference (2019, November 15)

Detailed reference viewed: 36 (2 ULiège)
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See detailLa myopathie atypique : le top 10 des dernières nouvelles
Votion, Dominique ULiege; François, Anne-Christine ULiege; Renaud, Benoît ULiege et al

in Mespoulhès, Céline (Ed.) Proceeding Journée AVEF (Association des Vétérinaires Equins Français) (2019, November 15)

Cet écrit reprend le top 10 des dernières nouvelles relatives à la myopathie atypique dont certaines ne sont pas encore publiées.

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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 detailDiagnostic and prognostic value of hypoglycin A, methylenecyclopropyl acetic acidcarnitine and, acylcarnitines profile in horses with atypical myopathy
Renaud, Benoît ULiege; François, Anne-Christine ULiege; BOEMER, François ULiege et al

in Bayrou, Calixte; Delguste, Catherine; Douny, Caroline (Eds.) et al Proceedings of the 6th FARAH-Day (2019, November 08)

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See detail40 ans de dépistage prénatal d'aneuploïdies
BOEMER, François ULiege

Conference (2019, September 27)

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See detail(S)un (M)ay (A)rise on SMA : l'espoir d'une region sans amyotrophie spinale.
BOEMER, François ULiege; CABERG, Jean-Hubert ULiege; DIDEBERG, Vinciane ULiege et al

in Revue medicale de Liege (2019), 74(9), 461-464

The treatment of spinal muscular atrophy (SMA) has considerably changed over the last 3 years. Several approaches that aim to increase the deficient SMN protein have demonstrated an efficacy that is ... [more ▼]

The treatment of spinal muscular atrophy (SMA) has considerably changed over the last 3 years. Several approaches that aim to increase the deficient SMN protein have demonstrated an efficacy that is inversely correlated with disease duration. In this context, newborn screening (NBS) is increasingly considered as the next step in several countries or regions. In 2018, we initiated a pilot study for NBS of SMA in French- and German-speaking Belgium. We aim to evaluate the feasibility, the efficacy, and the cost-effectiveness of such a program. Initially covering the region of Liege, the program was recently extended to the whole Southern Belgium and currently covers about 55.000 newborns per year. On June 1st 2019, 35.000 newborns had been screened and 5 affected babies were identified and referred to neuromuscular centers for early treatment. A full evaluation of the program will take place after three years to consider the inclusion of SMA screening in the publically-funded NBS program in Southern Belgium. [less ▲]

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See detailAssociation of SMA neonatal screening with other screening tests
BOEMER, François ULiege

in Neuromuscular Disorders (2019, May 11)

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See detailIn-house techniques for SMA screening test: validation
BOEMER, François ULiege

in Neuromuscular Disorders (2019, May 10)

Detailed reference viewed: 28 (8 ULiège)