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1,021 results on '"Kema, Ido P"'

13. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Author

Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo WT, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald JA, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M, Friedman, Jan M, Pena, Izabella A, and van Karnebeek, Clara DM

Subjects
Epilepsy, Neurosciences, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Disease Models, Animal, Female, HEK293 Cells, Humans, Male, Phenotype, Proteins, Pyridoxal Phosphate, Pyridoxine, Vitamin B 6, Vitamin B 6 Deficiency, Zebrafish, PLPBP, PROSC, epilepsy, pyridoxine, vitamin B6-responsive epilepsy, Care4Rare Canada Consortium, PLPBP, PROSC, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of which is poorly understood. When left untreated, the disease can progress to status epilepticus and death in infancy. Here we present 12 previously undescribed patients and six novel pathogenic variants in PLPBP. Suspected clinical diagnoses prior to identification of PLPBP variants included mitochondrial encephalopathy (two patients), folinic acid-responsive epilepsy (one patient) and a movement disorder compatible with AADC deficiency (one patient). The encoded protein, PLPHP is believed to be crucial for B6 homeostasis. We modelled the pathogenicity of the variants and developed a clinical severity scoring system. The most severe phenotypes were associated with variants leading to loss of function of PLPBP or significantly affecting protein stability/PLP-binding. To explore the pathophysiology of this disease further, we developed the first zebrafish model of PLPHP deficiency using CRISPR/Cas9. Our model recapitulates the disease, with plpbp-/- larvae showing behavioural, biochemical, and electrophysiological signs of seizure activity by 10 days post-fertilization and early death by 16 days post-fertilization. Treatment with pyridoxine significantly improved the epileptic phenotype and extended lifespan in plpbp-/- animals. Larvae had disruptions in amino acid metabolism as well as GABA and catecholamine biosynthesis, indicating impairment of PLP-dependent enzymatic activities. Using mass spectrometry, we observed significant B6 vitamer level changes in plpbp-/- zebrafish, patient fibroblasts and PLPHP-deficient HEK293 cells. Additional studies in human cells and yeast provide the first empirical evidence that PLPHP is localized in mitochondria and may play a role in mitochondrial metabolism. These models provide new insights into disease mechanisms and can serve as a platform for drug discovery.

Published
2019

15. Exploring the kynurenine pathway in mild traumatic brain injury: A longitudinal study.

Author

Visser, Koen, Ciubotariu, Diana, de Koning, Myrthe E., Jacobs, Bram, van Faassen, Martijn, van der Ley, Claude, Mayer, Andrew R., Meier, Timothy B., Bourgonje, Arno R., Kema, Ido P., van Goor, Harry, van der Naalt, Joukje, and van der Horn, Harm J.

Subjects
PICOLINIC acid, QUINOLINIC acid, BRAIN injuries, TREATMENT effectiveness, PLASMA oscillations
Abstract

A potential source of novel biomarkers for mTBI is the kynurenine pathway (KP), a metabolic pathway of tryptophan (Trp), that is up‐regulated by neuroinflammation and stress. Considering that metabolites of the KP (kynurenines) are implicated in various neuropsychiatric diseases, exploration of this pathway could potentially bridge the gap between physiological and psychological factors in the recovery process after mTBI. This study, therefore, set out to characterize the KP after mTBI and to examine associations with long‐term outcome. Patients were prospectively recruited at the emergency department (ED), and blood samples were obtained in the acute phase (<24 h; N = 256) and at 1‐month follow‐up (N = 146). A comparison group of healthy controls (HC; N = 32) was studied at both timepoints. Trp, kynurenines, and interleukin (IL)‐6 and IL‐10 were quantified in plasma. Clinical outcome was measured at six months post‐injury. Trp, xanthurenic acid (XA), and picolinic acid (PA) were significantly reduced in patients with mTBI relative to HC, corrected for age and sex. For Trp (d = −0.57 vs. d = −0.29) and XA (d = −0.98 vs. d = −0.32), larger effects sizes were observed during the acute phase compared to one‐month follow‐up, while for PA (d = −0.49 vs. d = −0.52) effect sizes remained consistent. Findings for other kynurenines (e.g., kynurenine, kynurenic acid, and quinolinic acid) were non‐significant after correction for multiple testing. Within the mTBI group, lower acute Trp levels were significantly related to incomplete functional recovery and higher depression scores at 6 months post‐injury. No significant relationships were found for Trp, XA, and PA with IL‐6 or IL‐10 concentrations. In conclusion, our findings indicate that perturbations of the plasma KP in the hyperacute phase of mTBI and 1 month later are limited to the precursor Trp, and glutamate system modulating kynurenines XA and PA. Correlations between acute reductions of Trp and unfavorable outcomes may suggest a potential substrate for pharmacological intervention. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Delayed Graft Function After Kidney Transplantation: The Role of Residual Diuresis and Waste Products, as Oxalic Acid and Its Precursors.

Author

Hospers, Gideon Post, Visser, Wesley J., Verhoeven, Jeroen G. H. P., Laging, Mirjam, Baart, Sara J., Mertens zur Borg, Ingrid R. A. M., Hesselink, Dennis A., de Mik-van Egmond, Anneke M. E., Betjes, Michiel G. H., van Agteren, Madelon, Severs, David, van de Wetering, Jacqueline, Zietse, Robert, Vos, Michel J., Kema, Ido P., Kho, Marcia M. L., Reinders, Marlies E. J., and Roodnat, Joke I.

Subjects
OXALIC acid, WASTE products, KIDNEY physiology, LOGISTIC regression analysis, GLYCOLIC acid
Abstract

Delayed graft function (DGF) after kidney transplantation heralds a worse prognosis. In patients with hyperoxaluria, the incidence of DGF is high. Oxalic acid is a waste product that accumulates when kidney function decreases. We hypothesize that residual diuresis and accumulated waste products influence the DGF incidence. Patients transplanted between 2018-2022 participated in the prospective cohort study. Pre-transplant concentrations of oxalic acid and its precursors were determined. Data on residual diuresis and other recipient, donor or transplant related variables were collected. 496 patients were included, 154 were not on dialysis. Oxalic acid, and glyoxylic acid, were above upper normal concentrations in 98.8%, and 100% of patients. Residual diuresis was ≤150 mL/min in 24% of patients. DGF occurred in 157 patients. Multivariable binary logistic regression analysis demonstrated a significant influence of dialysis type, recipient BMI, donor type, age, and serum creatinine on the DGF risk. Residual diuresis and glycolic acid concentration were inversely proportionally related to this risk, glyoxylic acid directly proportionally. Results in the dialysis population showed the same results, but glyoxylic acid lacked significance. In conclusion, low residual diuresis is associated with increased DGF incidence. Possibly accumulated waste products also play a role. Pre-emptive transplantation may decrease the incidence of DGF. [ABSTRACT FROM AUTHOR]

Published
2024
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25. Vitamin E Serum Levels and the Challenge to Correct for Lipids: Accounting for the Usual Double Correction for Variance Shared by Total Cholesterol and Fasting Triglycerides Reveals New Insights into the Association with the One-Carbon Pathway

Author

Minović, Isidor, Sotomayor, Camilo G., Eggersdorfer, Manfred, Riphagen, Ineke J., de Borst, Martin H., Dekker, Louise H., Navis, Gerjan, Nolte, Ilja M., van Zon, Sander K. R., Reijneveld, Sijmen A., van der Molen, Jan C., de Jong, Wilhelmina H. A., Kootstra-Ros, Jenny E., Kema, Ido P., Bakker, Stephan J. L., Bendich, Adrianne, Series Editor, Bales, Connie W., Series Editor, Weber, Peter, editor, Birringer, Marc, editor, Blumberg, Jeffrey B., editor, Eggersdorfer, Manfred, editor, and Frank, Jan, editor

Published
2019
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27. Hereditary Alpha Tryptasemia: Validation of a Single-Well Multiplex Digital Droplet PCR Assay in a Cohort of Symptomatic Patients

Author

Alheraky, Abdulrazzaq, primary, Wierenga, Albertus T J, additional, Simpelaar, Arjan, additional, Hesp, Lucy B, additional, Minovic, Isidor, additional, Bagheri, Niusha, additional, Roozendaal, Caroline, additional, Span, Lambert F R, additional, Oude Elberink, Hanneke N G, additional, Kema, Ido P, additional, and Mulder, André B, additional

Published
2023
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38. Corrigendum to “A genome-wide association study of 24-hour urinary excretion of endocrine disrupting chemicals” [Environ. Int., A Genome-Wide Association Study of 24-Hour Urinary Excretion of Endocrine Disrupting Chemicals 183 (2024) 108396]

Author

Lu, Xueling, van der Meer, Thomas P., Kamali, Zoha, van Faassen, Martijn, Kema, Ido P., van Beek, André P., Xu, Xijin, Huo, Xia, Ani, Alireza, Nolte, Ilja M., Wolffenbuttel, Bruce H.R., van Vliet-Ostaptchouk, Jana V., and Snieder, Harold

Published
2024
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44. Sleep quality, fatigue, societal participation and health-related quality of life in kidney transplant recipients: a cross-sectional and longitudinal cohort study.

Author

Knobbe, Tim J, Kremer, Daan, Eisenga, Michele F, Londen, Marco van, Annema, Coby, Bültmann, Ute, Kema, Ido P, Navis, Gerjan J, Berger, Stefan P, Bakker, Stephan J L, and Investigators, the TransplantLines

Subjects
SLEEP quality, QUALITY of life, FATIGUE (Physiology), MATERIAL fatigue, KIDNEY transplantation, UNHEALTHY lifestyles
Abstract

Background Fatigue and impaired health-related quality of life (HRQoL) are common among kidney transplant recipients (KTR). We hypothesized that both may partially be attributable to poor sleep. Methods Cross-sectional and longitudinal data of KTR enrolled in the TransplantLines Biobank and Cohort Study were used. Sleep quality was assessed using the Pittsburgh Sleep Quality Index questionnaire. Individual strength (i.e. a composite of fatigue, concentration, motivation and physical activity), societal participation and HRQoL were assessed using validated questionnaires. Results We included 872 KTR (39% female, age 56 ± 13 years) and 335 healthy controls. In total, 33% of male KTR and 49% of female KTR reported poor sleep quality, which was higher compared with male and female healthy controls (19% and 28%, respectively, P  < .001 for both). In logistic regression analyses, female sex, anxiety, active smoking, low protein intake, physically inactive lifestyle, low plasma magnesium concentration, using calcineurin inhibitors, not using mTOR inhibitors and using benzodiazepine agonists were associated with poor sleep quality. In adjusted linear regression analyses, poor sleep was strongly and independently associated with lower individual strength [standardized β (st.β) = 0.59, 95% confidence interval (CI) 0.45 to 0.74, P  < .001], poorer societal participation (frequency: st.β = −0.17, 95% CI −0.32 to −0.01, P  = .04; restrictions: st.β = −0.36, 95% CI −0.51 to −0.21, P  < .001; satisfaction: st.β = −0.44, 95% CI −0.59 to −0.28, P  < .001) and lower HRQoL (physical: st.β = −0.53, 95% CI −0.68 to −0.38, P  < .001; mental: st.β = −0.64, 95% CI −0.78 to −0.50, P  < .001). The associations with poorer societal participation and lower HRQoL were strongly mediated by individual strength (P  < .001 for all), yet the suggested direct effects of poor sleep quality on HRQoL remained significant (P physical = .03, P mental = .002). Longitudinal data of 292 KTR showed that sleep quality improves after kidney transplantation in males (P  < .001), but not in females (P  = .9). Conclusions Poor sleep quality is common among KTR, and may be a potential target to improve fatigue, societal participation and HRQoL among KTR. [ABSTRACT FROM AUTHOR]

Published
2024
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49. Supplementary Figures S1 - S2 from Measuring Residual Estrogen Receptor Availability during Fulvestrant Therapy in Patients with Metastatic Breast Cancer

Author

van Kruchten, Michel, primary, de Vries, Elisabeth G., primary, Glaudemans, Andor W., primary, van Lanschot, Meta C., primary, van Faassen, Martijn, primary, Kema, Ido P., primary, Brown, Myles, primary, Schröder, Carolien P., primary, de Vries, Erik F., primary, and Hospers, Geke A., primary

Published
2023
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