Percorrer por autor "Yahyaoui, Raquel"
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- Birth Prevalence of Fatty Acid β-Oxidation Disorders in IberiaPublication . Rocha, Hugo; Castiñeiras, Daisy; Delgado, Carmen; Egea, José; Yahyaoui, Raquel; González, Yolanda; Conde, Manuel; González, Inmaculada; Rueda, Inmaculada; Rello, Luis; Vilarinho, Laura; Cocho, JoséMitochondrial fatty acid β-oxidation disorders (FAOD) are main targets for newborn screening (NBS) programs, which are excellent data sources for accurate estimations of disease birth prevalence. Epidemiological data is of key importance for the understanding of the natural history of the disorders as well as to define more effective public health strategies. In order to estimate FAOD birth prevalence in Iberia, the authors collected data from six NBS programs from Portugal and Spain, encompassing the screening of more than 1.6 million newborns by tandem mass spectrometry (MS/MS), and compared it with available data from other populations. The participating NBS programs are responsible for the screening of about 46% of all Iberian newborns. Data reveals that Iberia has one of the highest FAOD prevalence in Europe (1:7,914) and that Portugal has the highest birth prevalence of FAOD reported so far (1:6,351), strongly influenced by the high prevalence of medium-chain acyl-CoA dehydrogenase deficiency (MCADD; 1:8,380), one of the highest ever reported. This is justified by the fact that more than 90% of Portuguese MCADD patients are of Gypsy origin, a community characterized by a high degree of consanguinity. From the comparative analysis of various populations with comparable data other differences emerge, which points to the existence of significant variations in FAOD prevalences among different populations, but without any clear European variation pattern. Considering that FAOD are one of the justifications for MS/MS NBS, the now estimated birth prevalences stress the need to screen all Iberian newborns for this group of inherited metabolic disorders.
- Newborn screening for homocystinurias: recent recommendations versus current practicePublication . Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J.; Baumgartner, Matthias R.; Bártl, Josef; Dionisi-Vici, Carlo; Gleich, Florian; Morris, Andrew A.; Kožich, Viktor; Huemer, Martina; Barić, Ivo; Ben-Omran, Tawfeq; Blasco-Alonso, Javier; Bueno Delgado, Maria A.; Carducci, Claudia; Cassanello, Michela; Cerone, Roberto; Couce, Maria Luz; Crushell, Ellen; Delgado Pecellin, Carmen; Dulin, Elena; Espada, Mercedes; Ferino, Giulio; Fingerhut, Ralph; Garcia Jimenez, Immaculada; Gonzalez Gallego, Immaculada; González-Irazabal, Yolanda; Gramer, Gwendolyn; Juan Fita, Maria Jesus; Karg, Eszter; Klein, Jeanette; Konstantopoulou, Vassiliki; la Marca, Giancarlo; Leão Teles, Elisa; Leuzzi, Vincenzo; Lilliu, Franco; Lopez, Rosa Maria; Lund, Allan M.; Mayne, Philip; Meavilla, Silvia; Moat, Stuart J.; Okun, Jürgen G.; Pasquini, Elisabeta; Pedron-Giner, Consuélo Carmen; Racz, Gabor Zoltan; Ruiz Gomez, Maria Angeles; Vilarinho, Laura; Yahyaoui, Raquel; Zerjav Tansek, Moja; Zetterström, Rolf H.; Zeyda, MaximilianPurpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres. Results: NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second-tier marker total homocysteine (tHcy). The median decision limits of all centres were ≥ 2.35 for high and ≤ 0.44 MoM for low methionine, ≥ 1.95 for high and ≤ 0.47 MoM for low methionine/phenylalanine, ≥ 2.54 for high propionylcarnitine and ≥ 2.78 MoM for propionylcarnitine/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second-tier testing costs, we further adapted these decision limits using the data of 15 000 healthy newborns. Conclusions: Due to the favorable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, for example, birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second-tier markers.
- Newborn screening for homocystinurias: Recent recommendations versus current practicePublication . Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J.; Baumgartner, Matthias R.; Bártl, Josef; Dionisi‐Vici, Carlo; Gleich, Florian; Morris, Andrew A.; Kožich, Viktor; Huemer, Martina; Barić, Ivo; Ben‐Omran, Tawfeq; Blasco‐Alonso, Javier; Bueno Delgado, Maria A.; Carducci, Claudia; Cassanello, Michela; Cerone, Roberto; Couce, Maria Luz; Crushell, Ellen; Delgado Pecellin, Carmen; Dulin, Elena; Espada, Mercedes; Ferino, Giulio; Fingerhut, Ralph; Garcia Jimenez, Immaculada; Gonzalez Gallego, Immaculada; González‐Irazabal, Yolanda; Gramer, Gwendolyn; Juan Fita, Maria Jesus; Karg, Eszter; Klein, Jeanette; Konstantopoulou, Vassiliki; la Marca, Giancarlo; Leão Teles, Elisa; Leuzzi, Vincenzo; Lilliu, Franco; Lopez, Rosa Maria; Lund, Allan M.; Mayne, Philip; Meavilla, Silvia; Moat, Stuart J.; Okun, Jürgen G.; Pasquini, Elisabeta; Pedron‐Giner, Consuélo Carmen; Racz, Gabor Zoltan; Ruiz Gomez, Maria Angeles; Vilarinho, Laura; Yahyaoui, Raquel; Zerjav Tansek, Moja; Zetterström, Rolf H.; Zeyda, MaximilianPurpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres. Results: NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second-tier marker total homocysteine (tHcy). The median decision limits of all centres were ≥ 2.35 for high and ≤ 0.44 MoM for low methionine, ≥ 1.95 for high and ≤ 0.47 MoM for low methionine/phenylalanine, ≥ 2.54 for high propionylcarnitine and ≥ 2.78 MoM for propionylcarnitine/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second-tier testing costs, we further adapted these decision limits using the data of 15 000 healthy newborns. Conclusions: Due to the favorable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, for example, birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second-tier markers.
- Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman DiseasePublication . de Las Heras, Javier; Almohalla, Carolina; Blasco-Alonso, Javier; Bourbon, Mafalda; Couce, Maria-Luz; de Castro López, María José; García Jiménez, M. Concepción; Gil Ortega, David; González-Diéguez, Luisa; Meavilla, Silvia; Moreno-Álvarez, Ana; Pastor-Rosado, José; Sánchez-Pintos, Paula; Serrano-Gonzalo, Irene; López, Eduardo; Valdivielso, Pedro; Yahyaoui, Raquel; Quintero, JesúsLysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications. Mortality is close to 100% before one year of life in the absence of specific treatment. The later-onset form can be diagnosed in childhood or adulthood and is characterized by chronic liver injury and/or lipid profile alterations. When LAL-D is suspected, enzyme activity should be determined to confirm the diagnosis, with analysis from a dried blood spot sample being the quickest and most reliable method. In infantile-onset LAL-D, the initiation of enzyme replacement therapy (sebelipase α) and careful nutritional management with a low-lipid diet is very urgent, as prognosis is directly linked to the early initiation of specific treatment. In recent years, our knowledge of the management of LAL-D has increased considerably, with improvements regarding the initial enzyme replacement therapy dose and careful nutritional treatment with a low-lipid diet to decrease lipid deposition and systemic inflammation, leading to better outcomes. In this narrative review we offer a quick guide for the initial management of infantile-onset LAL-D.
- Prevalência ao nascimento dos défices da β-oxidação mitocondrial dos ácidos gordos na Península IbéricaPublication . Rocha, Hugo; Castiñeiras, Daisy; Delgado, Carmen; Egea, José; Yahyaoui, Raquel; González, Yolanda; Conde, Manuel; González, Inmaculada; Rueda, Inmaculada; Rello, Luis; Vilarinho, Laura; Cocho, JoséObjetivo: Determinar a prevalência ao nascimento dos défices da -oxidação mitocondrial dos ácidos gordos na Península Ibérica.