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Now showing items 4521-4540 of 40729

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

Coughlin, Curtis R; Tseng, Laura A; Abdenur, Jose E; Ashmore, Catherine; Boemer, François; Bok, Levinus A; Boyer, Monica; Buhas, Daniela; Clayton, Peter T; Das, Anibh; Dekker, Hanka; Evangeliou, Athanasios; Feillet, François; Footitt, Emma J; Gospe, Sidney M; Hartmann, Hans; Kara, Majdi; Kristensen, Erle; Lee, Joy; Lilje, Rina; Longo, Nicola; Lunsing, Roelineke J; Mills, Philippa; Papadopoulou, Maria T; Pearl, Phillip L; Piazzon, Flavia; Plecko, Barbara; Saini, Arushi G; Santra, Saikat; Sjarif, Damayanti R; Stockler-Ipsiroglu, Sylvia; Striano, Pasquale; Van Hove, Johan L K; Verhoeven-Duif, Nanda M; Wijburg, Frits A; Zuberi, Sameer M; van Karnebeek, Clara D M (Springer Netherlands, 2021-01)

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 ...
Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder

Gandawijaya, Josan; Bamford, Rosemary A.; Burbach, J. Peter H.; Oguro-Ando, Asami (Frontiers Media S. A., 2021-01-13)

Autism spectrum disorder (ASD) is characterized by impaired social interaction, language delay and repetitive or restrictive behaviors. With increasing prevalence, ASD is currently estimated to affect 0.5–2.0% of the global ...
A hybrid data harmonization workflow using word embeddings for the interlinking of heterogeneous cross-domain clinical data structures

Pezoulas, Vasileios C.; Sakellarios, Antonis; Kleber, Marcus; Bosch, Jos A.; van der Laan, Sander W.; Lamers, Femke; Lehtimäki, Terho; März, Winfried; Fotiadis, Dimitrios I. (Institute of Electrical and Electronics Engineers Inc., 2021)

Retrospective data harmonization is an open issue in healthcare due to the emerging need to interlink data from multiple clinical centers with the absence of standardized data collection protocols. In this work, we present ...
Cntn4, a risk gene for neuropsychiatric disorders, modulates hippocampal synaptic plasticity and behavior

Oguro-Ando, Asami; Bamford, Rosemary A.; Sital, Wiedjai; Sprengers, Jan J.; Zuko, Amila; Matser, Jolien M.; Oppelaar, Hugo; Sarabdjitsingh, Angela; Joëls, Marian; Burbach, J. Peter H.; Kas, Martien J. (Nature Publishing Group, 2021-02-04)

Neurodevelopmental and neuropsychiatric disorders, such as autism spectrum disorders (ASD), anorexia nervosa (AN), Alzheimer’s disease (AD), and schizophrenia (SZ), are heterogeneous brain disorders with unknown etiology. ...
Unfolding and disentangling coronary vascular disease through genome-wide association studies

Erdmann, Jeanette; van der Laan, Sander W (Oxford University Press, 2021-03-01)
An insight into healthcare professionals' perspectives on discussing implantable cardioverter defibrillator deactivation

Hill, Loreena; Cassidy, Lorna; Dixon, Lana; Fitzsimons, Donna; Thylen, Ingela; Jaarsma, Tiny (Elsevier, 2024-08)

Aims: International studies have examined patients' views concerning the discussion of deactivating an implantable cardioverter defibrillator (ICD). Findings reported that many patients were either not informed about the ...
Minding the gap: Assessing patient expectations versus experiences in drug information services at community health centers (Puskesmas) in Indonesia urban settings

Azizah, Rezki N.; Habibie, Habibie; Arsyad, Dian S.; Bahar, Muhammad A. (Narra Sains Indonesia, 2024-08)

In pharmaceutical care, patients' perceptions of drug information provided by pharmacists are vital for assessing pharmaceutical services at community health centers (in Indonesian known as Puskesmas). The aim of this study ...
Neurophysiological research: EEG and MEG

Van Lutterveld, Remko; Ford, Judith M. (Springer New York, 2012-09-01)

Electroencephalography (EEG) and magnetoencephalography (MEG) are two techniques that distinguish themselves from other neuroimaging methodologies through their ability to directly measure brain-related activity and their ...
Neurophysiological studies of auditory verbal hallucinations

Ford, Judith M.; Dierks, Thomas; Fisher, Derek J.; Herrmann, Christoph S.; Hubl, Daniela; Kindler, Jochen; Koenig, Thomas; Mathalon, Daniel H.; Spencer, Kevin M.; Strik, Werner; Van Lutterveld, Remko (Oxford University Press, 2012-06)

We discuss 3 neurophysiological approaches to study auditory verbal hallucinations (AVH). First, we describe "state" (or symptom capture) studies where periods with and without hallucinations are compared "within" a patient. ...
Effect of disease duration and other characteristics on efficacy outcomes in clinical trials of tocilizumab for rheumatoid arthritis

Rubbert-Roth, Andrea; Aletaha, Daniel; Devenport, Jenny; Sidiropoulos, Paris N.; Luder, Yves; Edwardes, Michael D.; Jacobs, Johannes W.G. (Oxford University Press, 2021-02-01)

Objective: To determine the extent to which disease duration, alone or in combination with other baseline clinical and non-clinical factors, explains variations in outcome of tocilizumab initiated in biologic-naïve patients ...
A sex difference in handscan scores in rheumatoid arthritis patients and controls? An ongoing analysis of the sex difference and other potential confounders

Verhoeven, Maxime M.A.; Westgeest, Antonius A.A.; Jacobs, Johannes W.G. (Journal of Rheumatology, 2021-06-01)
The psychological impact of the COVID-19 pandemic on Dutch people with and without an inflammatory rheumatic disease

Koppert, Tim Y.; Jacobs, Johannes W.G.; Geenen, Rinie (Oxford University Press, 2021-08-02)

OBJECTIVES: To determine the psychological impact of the COVID-19 pandemic on people with and without an inflammatory rheumatic disease and establish whether psychological flexibility buffers this impact. METHODS: From ...
The impact of COVID-19 stress on pain and fatigue in people with and without a central sensitivity syndrome

Koppert, Tim Y.; Jacobs, Johannes W.G.; Lumley, Mark A.; Geenen, Rinie (Elsevier, 2021-12)

Objectives: Stress may augment somatic symptoms in central sensitivity syndromes (CSS) such as fibromyalgia, chronic fatigue syndrome, and irritable bowel syndrome. To test this hypothesis, we examined whether the association ...
A narrative review on current duodenoscope reprocessing techniques and novel developments

Heuvelmans, Maarten; Wunderink, Herman F; van der Mei, Henny C; Monkelbaan, Jan F (BioMed Central Ltd., 2021-12-23)

Duodenoscopy-associated infections occur worldwide despite strict adherence to reprocessing standards. The exact scope of the problem remains unknown because a standardized sampling protocol and uniform sampling techniques ...
Changing the choice from dialysis to conservative care or vice versa in older patients with advanced chronic kidney disease

Voorend, Carlijn G.N.; Verberne, Wouter R.; Van Oevelen, Mathijs; Meuleman, Yvette; Van Buren, Marjolijn; Bos, Willem Jan W. (Oxford University Press, 2021-10-01)
Glioblastoma, IDH-wildtype with primarily leptomeningeal localization diagnosed by nanopore sequencing of cell-free DNA from cerebrospinal fluid

Sol, Nik; Kooi, Evert Jan; Pagès-Gallego, Marc; Brandsma, Dieta; Bugiani, Marianna; de Ridder, Jeroen; Wesseling, Pieter; Vermeulen, Carlo (Springer, 2024-09-03)
Greater exposure to PM2.5 and PM10 was associated with lower corneal nerve measures: the Maastricht study - a cross-sectional study

Mokhtar, Sara B.A.; Viljoen, Jessica; van der Kallen, Carla J.H.; Berendschot, Tos T.J.M.; Dagnelie, Pieter C.; Albers, Jeroen D.; Soeterboek, Jens; Scarpa, Fabio; Colonna, Alessia; van der Heide, Frank C.T.; van Greevenbroek, Marleen M.J.; Bosm, Hans; Kroon, Abraham A.; Nuijts, Rudy M.M.A.; Gijs, Marlies; Lakerveld, Jeroen; Malik, Rayaz A.; Webers, Carroll A.B.; Stehouwer, Coen D.A.; Koster, Annemarie (BioMed Central, 2024-09-04)

Background: Epidemiological and toxicological studies indicate that increased exposure to air pollutants can lead to neurodegenerative diseases. To further confirm this relationship, we evaluated the association between ...
Patient, parent and professional expert perspectives on personalized regenerative implants: a qualitative focus group study

Daal, Manon van; de Kanter, Anne Floor J.; Custers, Roel J.H.; Martínez-Sanz, Elena; Bredenoord, Annelien L.; Graeff, Nienke de (Taylor and Francis Ltd., 2024)

Background: Perspectives of patients, parents and professional experts on personalized regenerative implants for regenerative medicine purposes are largely unknown. Method: To better understand these perspectives, we ...
Velopharyngeal insufficiency after cleft palate repair in patients with isolated Robin sequence versus isolated cleft palate: A systematic review

Sullivan, N. A.T.; Sijtsema, V.; Lachkar, N.; Paes, E. C.; Breugem, C. C.; Logjes, R. J.H. (Elsevier, 2024-12)

Background: Robin sequence (RS) is characterized by micrognathia, glossoptosis, and upper airway obstruction, and is often combined with a cleft palate. It is unclear whether RS negatively impacts the development of ...
In vivo and in vitro relationship between ionized magnesium and ionized calcium

Groenestege, Wouter M.Tiel; Stokwielder, Ron H.; Soels, Leosa R.; Sikma, Maaike A.; Hutten, Tim J.A. (Elsevier, 2024-12)

Objectives: The objective of this study was to determine the in vivo correlation of ionized magnesium (iMg) with ionized calcium (iCa), total calcium, albumin and pH. In addition, the analytical interference of iCa on iMg ...

Now showing items 4521-4540 of 40729