References of "BOEMER, François"
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See detailAminoacidopathies : Aspects cliniques et analytiques
BOEMER, François ULiege

Conference (2021, May 20)

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See detailBelgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions.
Vandevelde, Nathalie M.; Vermeersch, Pieter; Devreese, Katrien M. J. et al

in Orphanet journal of rare diseases (2021), 16(1), 89

BACKGROUND: One objective of the Belgian Rare Diseases plan is to improve patients' management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical ... [more ▼]

BACKGROUND: One objective of the Belgian Rare Diseases plan is to improve patients' management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare diseases, developing new financing conditions and establishing reference laboratories. METHODS: A feasibility study was performed from May 2015 until August 2016 in order to select the financeable biochemical analyses, and, among them, those that should be performed by reference laboratories. This selection was based on an inventory of analyses used for rare diseases and a survey addressed to the Belgian laboratories of clinical pathology (investigating the annual analytical costs, volumes, turnaround times and the tests unavailable in Belgium and outsourced abroad). A proposal of financeable analyses, financing modalities, reference laboratories' scope and budget estimation was developed and submitted to the Belgian healthcare authorities. After its approval in December 2016, the implementation phase took place from January 2017 until December 2019. RESULTS: In 2019, new reimbursement conditions have been published for 46 analyses and eighteen reference laboratories have been recognized. Collaborations have also been developed with 5 foreign laboratories in order to organize the outsourcing and financing of 9 analyses unavailable in Belgium. CONCLUSIONS: In the context of clinical pathology and rare diseases, this initiative enabled to identify unreimbursed analyses and to meet the most crucial financial needs. It also contributed to improve patients' management by establishing Belgian reference laboratories and foreign referral laboratories for highly-specific analyses and a permanent surveillance, quality and financing framework for those tests. [less ▲]

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See detailDiagnostic et suivi de la phénylcétonurie par LC-MS-MS au Maroc.
Meiouet, Faïza; Kabbaj, Saâd El; DEBRAY, François-Guillaume ULiege et al

in Annales de biologie clinique (2021)

Phenylketonuria is an inherited metabolic disease, of autosomal recessive transmission, due to the enzymatic deficit of phenylalanine hydroxylase, which transforms phenylalanine into tyrosine. The deficit ... [more ▼]

Phenylketonuria is an inherited metabolic disease, of autosomal recessive transmission, due to the enzymatic deficit of phenylalanine hydroxylase, which transforms phenylalanine into tyrosine. The deficit leads to an increase in phenylalanine and its metabolite, phenylpyruvic acid which is responsible for the toxicity and symptomatology characterized by serious neurological disorders. Through this work, we wanted to show: 1) the profile of phenylalanine concentrations in a cohort of 52 Moroccan phenylketonuric patients diagnosed in our laboratory by Tandem Mass Spectrometry coupled with HPLC; 2) The value of biological monitoring in the nutritional management of phenylketonuric patients. The results showed that phenylketonuria diagnosed in Morocco is characterized by a predominance of classic and moderate phenylketonuria in both sexes with a median concentration = 1,107 μmol/L, 26 times higher than that observed in the control group (median value = 42 μmol/L - p < 0.0001). The phenylalanine and tyrosine concentrations of 33 phenylketonuric patients regularly monitored by our laboratory highlights the effectiveness of the hypoproteic diet with a marked improvement in psychomotor development, a significant regression in behavioral disorders and an encouraging overall development of children. Conclusion: phenylketonuria is a disease that would be frequent in Morocco but it is still diagnosed at the stage of severe mental retardation. A better management of these patients could be considered when setting up a nation-wide neonatal screening program. [less ▲]

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See detailNewborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon‑skipping therapy
BECKERS, Pablo ULiege; CABERG, Jean-Hubert ULiege; DIDEBERG, Vinciane ULiege et al

in Scientific Reports (2021), 11

Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients ... [more ▼]

Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45 skipping. We evaluated the spectrum of deletions reported in DMD registries, and designed a method to screen newborns and identify DMD deletions amenable to exon 51, 53 and 45 skipping. We developed a multiplex qPCR assay identifying hemi(homo)-zygotic deletions of the flanking exons of these therapeutic targets in DMD exons (i.e. exons 44, 46, 50, 52 and 54). We conducted an evaluation of our new method in 51 male patients with a DMD phenotype, 50 female carriers of a DMD deletion and 19 controls. Studies were performed on dried blood spots with patient’s consent. We analyzed qPCR amplification curves of controls, carriers, and DMD patients to discern the presence or the absence of the target exons. Analysis of the exons flanking the exon-skipping targets permitted the identification of patients that could benefit from exon-skipping. All samples were correctly genotyped, with either presence or absence of amplification of the target exon. This proof-of-concept study demonstrates that this new assay is a highly sensitive method to identify DMD patients carrying deletions that are rescuable by exon-skipping treatment. The method is easily scalable to population-based screening. This targeted screening approach could address the new management paradigm in DMD, and could help to optimize the beneficial therapeutic effect of DMD therapies by permitting pre-symptomatic care. [less ▲]

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See detailL'expérience wallonne du dépistage néonatal de l'amyotrophie spinale
BOEMER, François ULiege

Conference (2021, January 14)

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See detailManagement of sickle cell disease: current practices and challenges in a northeastern region of the Democratic Republic of the Congo.
Kambale-Kombi, Paul; Marini Djang'Eing'A, Roland ULiege; Alworong'a Opara, Jean-Pierre et al

in Hematology (2021), 26(1), 199-205

BACKGROUND: The Democratic Republic of the Congo (DRC) is the third most affected country worldwide by sickle cell disease (SCD). However, this disease is still orphaned in the country; large-scale ... [more ▼]

BACKGROUND: The Democratic Republic of the Congo (DRC) is the third most affected country worldwide by sickle cell disease (SCD). However, this disease is still orphaned in the country; large-scale control actions are rare, and little is known about its management. OBJECTIVE: To assess current practices in the management of SCD in Kisangani, DRC. METHODS: This cross-sectional study was conducted in six health facilities in Kisangani. It involved 198 presumed sickle cell patients attending the above health facilities. The study focused on the sociodemographic and clinical data of the participants, obtained through a clinical examination and their medical records. Diagnostic confirmation of SCD was made by high-performance liquid chromatography coupled to mass spectrometry. Data were analyzed using SPSS 20.0. RESULTS: The diagnosis of SCD was confirmed in 194 (98.0%; 95% CI: 94.9-99.2) participants, while it was not confirmed in 4 (2.0%; 95% CI: 0.8-5.1) participants. The diagnosis was mainly made by the Emmel test (42.9%). 45.8% of participants had previously been transfused with the blood of their parents. Folic acid was taken by 48.5% of participants and the previous intake of hydroxyurea was reported in 5.1% of participants. The participants vaccinated against Pneumococcus were 13.6% and against Haemophilus influenzae type b 28.3%. Penicillin prophylaxis was received by only 1.5% and malaria prophylaxis by 11.6% of participants. CONCLUSION: Standard-care practices for SCD patients in Kisangani are insufficient. The Congolese government should regard this disease as a health priority and consider actions to improve its management. [less ▲]

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See detailGrazing Mares on Pasture with Sycamore Maples: A Potential Threat to Suckling Foals and Food Safety through Milk Contamination.
Renaud, Benoît ULiege; François, Anne-Christine ULiege; Boemer, François ULiege et al

in Animals : an open access journal from MDPI (2021), 11(1),

Equine atypical myopathy (AM) is seasonal intoxication resulting from the ingestion of seeds and seedlings of the sycamore maple (Acer pseudoplatanus) that contain toxins, among them, hypoglycin A (HGA ... [more ▼]

Equine atypical myopathy (AM) is seasonal intoxication resulting from the ingestion of seeds and seedlings of the sycamore maple (Acer pseudoplatanus) that contain toxins, among them, hypoglycin A (HGA). Literature mentions several cases of AM among gravid mares and in unweaned foals. The objective of this study was to determine whether HGA and/or its metabolite are present in milk from grazing mares exposed to sycamore maple trees as confirmed by detection of HGA and its metabolite in their blood. Four mare/foal couples were included in the study. Both HGA and its metabolite were detectable in all but one of the milk samples. To our knowledge, this is the first study describing transfer of HGA to the milk. This unprecedented observation could partially explain cases of unweaned foals suffering from AM. However, a transplacental transfer of the toxin cannot be excluded for newborn foals. Besides being a source of contamination for offspring, milk contamination by toxins from fruits of trees of the Sapindaceae family might constitute a potential risk for food safety regarding other species' raw milk or dairy products. [less ▲]

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See detailConsensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin, Curtis R. Nd; Tseng, Laura A.; Abdenur, Jose E. et al

in Journal of Inherited Metabolic Disease (2020)

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a ... [more ▼]

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE-ALDH7A1 were reported to have developmental delay and intellectual disability. To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy. These lysine-reduction therapies have resulted in improved biochemical parameters and cognitive development in many but not all patients. The goal of these consensus guidelines is to re-evaluate and update the two previously published recommendations for diagnosis, treatment, and follow-up of patients with PDE-ALDH7A1. Members of the International PDE Consortium initiated evidence and consensus-based process to review previous recommendations, new research findings, and relevant clinical aspects of PDE-ALDH7A1. The guideline development group included pediatric neurologists, biochemical geneticists, clinical geneticists, laboratory scientists, and metabolic dieticians representing 29 institutions from 16 countries. Consensus guidelines for the diagnosis and management of patients with PDE-ALDH7A1 are provided. This article is protected by copyright. All rights reserved. [less ▲]

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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 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 (2020), 30(1), 93-103

•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 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. [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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