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991.
Tim Boogaerts Maarten Quireyns Florence Maes Maria Laimou-Geraniou Natan Van Wichelen Ester Heath Bram Pussig Bert Aertgeerts Adrian Covaci Alexander L. N. van Nuijs 《Drug testing and analysis》2023,15(2):240-246
Wastewater-based epidemiology (WBE) is based on the analysis of human metabolic excretion products (biomarkers) of xenobiotics in wastewater, to gain information about various lifestyles and health aspects of a population in an evidence-based manner. Due to the complex wastewater matrix and trace level occurrence of human biomarkers in the sewage network, it is crucial to have sensitive analytical procedures available. Additionally, to improve the value of WBE as a complementary epidemiological source, there is increasing pressure on the analysis of more compounds, more locations and more samples. A high-throughput method based on 96-well Oasis MCX solid-phase extraction (SPE), requiring less influent wastewater (2 mL), was developed in accordance with the European Medicines Agency guidelines. Validation was successful for 28 parent drugs and metabolites of antidepressants, opioids and drugs of abuse. The selection of biomarkers and quantification limit was chosen to be relevant for WBE and was predominantly 10 ng/L or below. The final method was successfully applied to 24-h composite samples of October 2019 (n = 27), obtained from an urban wastewater treatment plant in Leuven (Belgium). 相似文献
992.
Susanna Ranta Jayashree Motwani Jan Blatny Martina Bührlen Manuel Carcao Hervé Chambost Carmen Escuriola Kathelijn Fischer Mutlu Kartal-Kaess Marloes de Kovel Gili Kenet Christoph Male Beatrice Nolan Roseline d'Oiron Martin Olivieri Ester Zapotocka Nadine G. Andersson Christoph Königs 《Haemophilia》2023,29(5):1291-1298
Introduction
Haemophilia A care has changed with the introduction of emicizumab. Experience on the youngest children is still scarce and clinical practice varies between haemophilia treatment centres.Aim
We aimed to assess the current clinical practice on emicizumab prophylaxis within PedNet, a collaborative research platform for paediatricians treating children with haemophilia.Methods
An electronic survey was sent to all PedNet members (n = 32) between October 2022 and February 2023. The survey included questions on the availability of emicizumab, on the practice of initiating prophylaxis in previously untreated or minimally treated patients (PUPs or MTPs) and emicizumab use in patients with or without inhibitors.Results
All but four centres (28/32; 88%) responded. Emicizumab was available in clinical practice in 25/28 centres (89%), and in 3/28 for selected patients only (e.g. with inhibitors). Emicizumab was the preferred choice for prophylaxis in PUPs or MTPs in 20/25 centres; most (85%) started emicizumab prophylaxis before 1 year of age (30% before 6 months of age) and without concomitant FVIII (16/20; 80%). After the loading dose, 13/28 centres administered the recommended dosing, while the others adjusted the interval of injections to give whole vials. In inhibitor patients, the use of emicizumab during ITI was common, with low-dose ITI being the preferred protoco l .Conclusion
Most centres choose to initiate prophylaxis with emicizumab before 12 months of age and without concomitant FVIII. In inhibitor patients, ITI is mostly given in addition to emicizumab, but there was no common practice on how to proceed after successful ITI. 相似文献993.
994.
Ester Moreno-Artero MD Teresa Imizcoz MD Carlos Prieto MD Raquel Manrique MD Marta González-Cañete MD Manuel Manrique MD Antonio Torrelo MD 《Pediatric dermatology》2023,40(3):534-536
Pathogenic sequence changes in mitochondrial DNA (mtDNA) are one of the most common causes of genetic hearing loss. We report an infant with palmoplantar hyperkeratosis, extrapalmoplantar cutaneous features and mitochondrial sensorineural hearing loss caused by the previously reported pathogenic NC_012920:m.7445A > G sequence change in the mitochondrial gene COX1 (COX1, MT-CO1). Next generation sequencing- based technology was key for the diagnosis and management of this patient. 相似文献
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Massimo Granai Stefano Lazzi Virginia Mancini Ayse Akarca Raffaella Santi Federica Vergoni Ester Sorrentino Raffaella Guazzo Lucia Mundo Gabriele Cevenini Claudio Tripodo Gioia Di Stefano Benedetta Puccini Maurilio Ponzoni Elena Sabattini Claudio Agostinelli Nuray Bassüllü Tülay Tecimer Ahu Senem Demiroz Leah Mnango Stephan Dirnhofer Leticia Quintanilla-Martinez Teresa Marafioti Falko Fend Lorenzo Leoncini 《Histopathology》2022,80(2):i-i
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Dale J. Lange MD Mona Shahbazi MSN NP BC‐NP OCNCNP Vincenzo Silani MD Albert C. Ludolph MD PhD Jochen H. Weishaupt MD Senda Ajroud‐Driss MD Kara G. Fields MS Rahul Remanan MB Stanley H. Appel MD Claudia Morelli MD Alberto Doretti MD Luca Maderna MD Stefano Messina MD Ulrike Weiland MD Stefan L. Marklund MD PhD Peter M. Andersen MD PhD 《Annals of neurology》2017,81(6):837-848