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Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐up

Winkel, Léon P. F. ; Van den Hout, Johanna M. P. ; Kamphoven, Joep H. J. ; [et al.]

Wiley ; 2004

In: Annals of Neurology Vol. 55, No. 4 ( 2004-04), p. 495-502

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In: Annals of Neurology, Wiley, Vol. 55, No. 4 ( 2004-04), p. 495-502

Abstract: Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen is caused by acid α‐glucosidase deficiency. Patients with late‐onset Pompe's disease present with progressive muscle weakness also affecting pulmonary function. In search of a treatment, we investigated the feasibility of enzyme replacement therapy with recombinant human α‐glucosidase from rabbit milk. Three patients (aged 11, 16, and 32 years) were enrolled in the study. They were all wheelchair‐bound and two of them were ventilator dependent with a history of deteriorating pulmonary function. After 3 years of treatment with weekly infusions of α‐glucosidase, the patients had stabilized pulmonary function and reported less fatigue. The youngest and least affected patient showed an impressive improvement of skeletal muscle strength and function. After 72 weeks of treatment, he could walk without support and finally abandoned his wheelchair. Our findings demonstrate that recombinant human α‐glucosidase from rabbit milk has a therapeutic effect in late‐onset Pompe's disease. There is good reason to continue the development of enzyme replacement therapy for Pompe's disease and to explore further the production of human therapeutic proteins in the milk of mammals. Ann Neurol 2004;55:000–000

Type of Medium: Online Resource

ISSN: 0364-5134 , 1531-8249

URL: Issue

URL: Article

DOI: 10.1002/ana.v55:4

DOI: 10.1002/ana.20019

Language: English

Publisher: Wiley

Publication Date: 2004

detail.hit.zdb_id: 2037912-2

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Physiological Characterization of the ARO10 -Dependent, Broad-Substrate-Specificity 2-Oxo Acid Decarboxylase Activity of Saccharomyces cerevisiae

Vuralhan, Zeynep ; Luttik, Marijke A. H. ; Tai, Siew Leng ; [et al.]

American Society for Microbiology ; 2005

In: Applied and Environmental Microbiology Vol. 71, No. 6 ( 2005-06), p. 3276-3284

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In: Applied and Environmental Microbiology, American Society for Microbiology, Vol. 71, No. 6 ( 2005-06), p. 3276-3284

Abstract: Aerobic, glucose-limited chemostat cultures of Saccharomyces cerevisiae CEN.PK113-7D were grown with different nitrogen sources. Cultures grown with phenylalanine, leucine, or methionine as a nitrogen source contained high levels of the corresponding fusel alcohols and organic acids, indicating activity of the Ehrlich pathway. Also, fusel alcohols derived from the other two amino acids were detected in the supernatant, suggesting the involvement of a common enzyme activity. Transcript level analysis revealed that among the five thiamine-pyrophospate-dependent decarboxylases ( PDC1 , PDC5 , PDC6 , ARO10 , and THI3 ), only ARO10 was transcriptionally up-regulated when phenylalanine, leucine, or methionine was used as a nitrogen source compared to growth on ammonia, proline, and asparagine. Moreover, 2-oxo acid decarboxylase activity measured in cell extract from CEN.PK113-7D grown with phenylalanine, methionine, or leucine displayed similar broad-substrate 2-oxo acid decarboxylase activity. Constitutive expression of ARO10 in ethanol-limited chemostat cultures in a strain lacking the five thiamine-pyrophosphate-dependent decarboxylases, grown with ammonia as a nitrogen source, led to a measurable decarboxylase activity with phenylalanine-, leucine-, and methionine-derived 2-oxo acids. Moreover, even with ammonia as the nitrogen source, these cultures produced significant amounts of the corresponding fusel alcohols. Nonetheless, the constitutive expression of ARO10 in an isogenic wild-type strain grown in a glucose-limited chemostat with ammonia did not lead to any 2-oxo acid decarboxylase activity. Furthermore, even when ARO10 was constitutively expressed, growth with phenylalanine as the nitrogen source led to increased decarboxylase activities in cell extracts. The results reported here indicate the involvement of posttranscriptional regulation and/or a second protein in the ARO10 -dependent, broad-substrate-specificity decarboxylase activity.

Type of Medium: Online Resource

ISSN: 0099-2240 , 1098-5336

URL: Article

DOI: 10.1128/AEM.71.6.3276-3284.2005

RVK:

WA 15000

Language: English

Publisher: American Society for Microbiology

Publication Date: 2005

detail.hit.zdb_id: 223011-2

detail.hit.zdb_id: 1478346-0

SSG: 12

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Alternative reactions at the interface of glycolysis and citric acid cycle in Saccharomyces cerevisiae

van Rossum, Harmen M. ; Kozak, Barbara U. ; Niemeijer, Matthijs S. ; [et al.]

Oxford University Press (OUP) ; 2016

In: FEMS Yeast Research Vol. 16, No. 3 ( 2016-05), p. fow017-

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In: FEMS Yeast Research, Oxford University Press (OUP), Vol. 16, No. 3 ( 2016-05), p. fow017-

Type of Medium: Online Resource

ISSN: 1567-1364 , 1567-1364

URL: Article

DOI: 10.1093/femsyr/fow017

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2016

detail.hit.zdb_id: 2052068-2

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A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Okumiya, Toshika ; Keulemans, Joke L.M. ; Kroos, Marian A. ; [et al.]

Elsevier BV ; 2006

In: Molecular Genetics and Metabolism Vol. 88, No. 1 ( 2006-05), p. 22-28

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In: Molecular Genetics and Metabolism, Elsevier BV, Vol. 88, No. 1 ( 2006-05), p. 22-28

Type of Medium: Online Resource

ISSN: 1096-7192

URL: Article

DOI: 10.1016/j.ymgme.2005.10.016

Language: English

Publisher: Elsevier BV

Publication Date: 2006

detail.hit.zdb_id: 1471393-7

SSG: 12

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“I Should’ve Been Able to Decide for Myself, but I Didn’t Want to Be Left Alone.” A Qualitative Interview Study of Clients’ Ethical Challenges and Norms Regarding Decision-Making in Gender-Affirming Medical Care

Gerritse, Karl ; Martens, Casper ; Bremmer, Marijke A. ; [et al.]

Informa UK Limited ; 2023

In: Journal of Homosexuality

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In: Journal of Homosexuality, Informa UK Limited

Type of Medium: Online Resource

ISSN: 0091-8369 , 1540-3602

URL: Article

DOI: 10.1080/00918369.2023.2201972

Language: English

Publisher: Informa UK Limited

Publication Date: 2023

detail.hit.zdb_id: 2067359-0

SSG: 5,2

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Sharing decisions amid uncertainties: a qualitative interview study of healthcare professionals’ ethical challenges and norms regarding decision-making in gender-affirming medical care

Gerritse, Karl ; Martens, Casper ; Bremmer, Marijke A. ; [et al.]

Springer Science and Business Media LLC ; 2022

In: BMC Medical Ethics Vol. 23, No. 1 ( 2022-12-27)

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In: BMC Medical Ethics, Springer Science and Business Media LLC, Vol. 23, No. 1 ( 2022-12-27)

Abstract: In gender-affirming medical care (GAMC), ethical challenges in decision-making are ubiquitous. These challenges are becoming more pressing due to exponentially increasing referrals, politico-legal contestation, and divergent normative views regarding decisional roles and models. Little is known, however, about what ethical challenges related to decision-making healthcare professionals (HCPs) themselves face in their daily work in GAMC and how these relate to, for example, the subjective nature of Gender Incongruence (GI), the multidisciplinary character of GAMC and the role HCPs play in assessing GI and eligibility for interventions. Given the relevance and urgency of these questions, we conducted a qualitative study among HCPs providing GAMC to transgender adults in the Netherlands. Methods In this qualitative research, we conducted 11 semi-structured interviews between May 2020 and February 2021 with HCPs (six mental health professionals, two HCPs in endocrinology, two in plastic surgery, and one in nursing) working in two distinct GAMC settings. We purposively sampled for professional background and years of experience in GAMC. We analyzed our interview data using thematic analysis. As some respondents were more inclined to speak about what should or ought to be done to arrive at good or right decision-making, we identified both ethical challenges and norms. Furthermore, in our analysis, we differentiated between respondents’ explicit and implicit ethical challenges and norms and ascertained the specific context in which these challenges emerged. Results Respondents’ ethical challenges and norms centered on (1) dividing and defining decisional roles and bounds, (2) negotiating decision-making in a (multidisciplinary) team, and (3) navigating various decision-making temporalities. These themes arose in the context of uncertainties regarding (1) GAMC’s guidelines, evidence, and outcomes, as well as (2) the boundaries and assessment of GI. Conclusions This interview study provides detailed empirical insight into both the explicit and implicit ethical challenges that HCPs experience and their ethical norms regarding decision-making. It also describes how uncertainties and (implicit) normativities concerning GAMC and GI pre-structure the moral environment in which these challenges and norms manifest. We provide normative reflections and recommendations on handling these ethical challenges in a way that is sensitive to the context in which they arise.

Type of Medium: Online Resource

ISSN: 1472-6939

URL: Article

DOI: 10.1186/s12910-022-00880-y

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2022

detail.hit.zdb_id: 2041552-7

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Evaluation of low-dose aspirin in the prevention of recurrent spontaneous preterm labour (the APRIL study): A multicentre, randomised, double-blinded, placebo-controlled trial

Landman, Anadeijda J. E. M. C. ; de Boer, Marjon A. ; Visser, Laura ; [et al.]

Public Library of Science (PLoS) ; 2022

In: PLOS Medicine Vol. 19, No. 2 ( 2022-2-1), p. e1003892-

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In: PLOS Medicine, Public Library of Science (PLoS), Vol. 19, No. 2 ( 2022-2-1), p. e1003892-

Abstract: Preterm birth is the leading cause of neonatal morbidity and mortality. The recurrence rate of spontaneous preterm birth is high, and additional preventive measures are required. Our objective was to assess the effectiveness of low-dose aspirin compared to placebo in the prevention of preterm birth in women with a previous spontaneous preterm birth. Methods and findings We performed a parallel multicentre, randomised, double-blinded, placebo-controlled trial (the APRIL study). The study was performed in 8 tertiary and 26 secondary care hospitals in the Netherlands. We included women with a singleton pregnancy and a history of spontaneous preterm birth of a singleton between 22 and 37 weeks. Participants were randomly assigned to aspirin 80 mg daily or placebo initiated between 8 and 16 weeks of gestation and continued until 36 weeks or delivery. Randomisation was computer generated, with allocation concealment by using sequentially numbered medication containers. Participants, their healthcare providers, and researchers were blinded for treatment allocation. The primary outcome was preterm birth 〈 37 weeks of gestation. Secondary outcomes included a composite of poor neonatal outcome (bronchopulmonary dysplasia, periventricular leukomalacia 〉 grade 1, intraventricular hemorrhage 〉 grade 2, necrotising enterocolitis 〉 stage 1, retinopathy of prematurity, culture proven sepsis, or perinatal death). Analyses were performed by intention to treat. From May 31, 2016 to June 13, 2019, 406 women were randomised to aspirin ( n = 204) or placebo ( n = 202). A total of 387 women (81.1% of white ethnic origin, mean age 32.5 ± SD 3.8) were included in the final analysis: 194 women were allocated to aspirin and 193 to placebo. Preterm birth 〈 37 weeks occurred in 41 (21.2%) women in the aspirin group and 49 (25.4%) in the placebo group (relative risk (RR) 0.83, 95% confidence interval (CI) 0.58 to 1.20, p = 0.32). In women with ≥80% medication adherence, preterm birth occurred in 24 (19.2%) versus 30 (24.8%) women (RR 0.77, 95% CI 0.48 to 1.25, p = 0.29). The rate of the composite of poor neonatal outcome was 4.6% ( n = 9) versus 2.6% ( n = 5) (RR 1.79, 95% CI 0.61 to 5.25, p = 0.29). Among all randomised women, serious adverse events occurred in 11 out of 204 (5.4%) women allocated to aspirin and 11 out of 202 (5.4%) women allocated to placebo. None of these serious adverse events was considered to be associated with treatment allocation. The main study limitation is the underpowered sample size due to the lower than expected preterm birth rates. Conclusions In this study, we observed that low-dose aspirin did not significantly reduce the preterm birth rate in women with a previous spontaneous preterm birth. However, a modest reduction of preterm birth with aspirin cannot be ruled out. Further research is required to determine a possible beneficial effect of low-dose aspirin for women with a previous spontaneous preterm birth. Trial registration Dutch Trial Register (NL5553, NTR5675) https://www.trialregister.nl/trial/5553 .

Type of Medium: Online Resource

ISSN: 1549-1676

URL: Article

DOI: 10.1371/journal.pmed.1003892

DOI: 10.1371/journal.pmed.1003892.g001

DOI: 10.1371/journal.pmed.1003892.g002

DOI: 10.1371/journal.pmed.1003892.t001

DOI: 10.1371/journal.pmed.1003892.t002

DOI: 10.1371/journal.pmed.1003892.t003

DOI: 10.1371/journal.pmed.1003892.t004

DOI: 10.1371/journal.pmed.1003892.s001

DOI: 10.1371/journal.pmed.1003892.s002

DOI: 10.1371/journal.pmed.1003892.s003

DOI: 10.1371/journal.pmed.1003892.s004

DOI: 10.1371/journal.pmed.1003892.s005

DOI: 10.1371/journal.pmed.1003892.s006

DOI: 10.1371/journal.pmed.1003892.s007

DOI: 10.1371/journal.pmed.1003892.s008

DOI: 10.1371/journal.pmed.1003892.s009

DOI: 10.1371/journal.pmed.1003892.s010

DOI: 10.1371/journal.pmed.1003892.s011

DOI: 10.1371/journal.pmed.1003892.s012

DOI: 10.1371/journal.pmed.1003892.s013

DOI: 10.1371/journal.pmed.1003892.r001

DOI: 10.1371/journal.pmed.1003892.r002

DOI: 10.1371/journal.pmed.1003892.r003

DOI: 10.1371/journal.pmed.1003892.r004

DOI: 10.1371/journal.pmed.1003892.r005

DOI: 10.1371/journal.pmed.1003892.r006

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2022

detail.hit.zdb_id: 2164823-2

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Does Repeated Measurement of a 6-Min Walk Test Contribute to Risk Prediction in Children with Dilated Cardiomyopathy?

van der Meulen, Marijke H. ; Boer, Susanna den ; du Marchie Sarvaas, Gideon J. ; [et al.]

Springer Science and Business Media LLC ; 2020

In: Pediatric Cardiology Vol. 41, No. 2 ( 2020-02), p. 223-229

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In: Pediatric Cardiology, Springer Science and Business Media LLC, Vol. 41, No. 2 ( 2020-02), p. 223-229

Abstract: A single 6-min walk test (6MWT) can be used to identify children with dilated cardiomyopathy (DCM) with a high risk of death or heart transplantation. To determine if repeated 6MWT has added value in addition to a single 6MWT in predicting death or heart transplantation in children with DCM. Prospective multicenter cohort study including ambulatory DCM patients ≥ 6 years. A 6MWT was performed 1 to 4 times per year. The distance walked was expressed as percentage of predicted (6MWD%). We compared the temporal evolution of 6MWD% in patients with and without the study endpoint (SE: all-cause death or heart transplantation), using a linear mixed effects model. In 57 patients, we obtained a median of 4 (IQR 2–6) 6MWTs per patient during a median of 3.0 years of observation (IQR 1.5–5.1). Fourteen patients reached a SE (3 deaths, 11 heart transplantations). At any time during follow-up, the average estimate of 6MWD% was significantly lower in patients with a SE compared to patients without a SE. In both patients groups, 6MWD% remained constant over time. An absolute 1% lower 6MWD% was associated with an 11% higher risk (hazard) of the SE (HR 0.90, 95% CI 0.86–0.95 p 〈 0.001). Children with DCM who died or underwent heart transplantation had systematically reduced 6MWD%. The performance of all patients was stable over time, so repeated measurement of 6MWT within this time frame had little added value over a single test.

Type of Medium: Online Resource

ISSN: 0172-0643 , 1432-1971

URL: Article

DOI: 10.1007/s00246-019-02244-7

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 1463000-X

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Clymene dolphins ( Stenella clymene ) in the eastern tropical Atlantic: distribution, group size, and pigmentation pattern

Weir, Caroline R. ; Coles, Phil ; Ferguson, Amy ; [et al.]

Oxford University Press (OUP) ; 2014

In: Journal of Mammalogy Vol. 95, No. 6 ( 2014-12), p. 1289-1298

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In: Journal of Mammalogy, Oxford University Press (OUP), Vol. 95, No. 6 ( 2014-12), p. 1289-1298

Type of Medium: Online Resource

ISSN: 0022-2372 , 1545-1542

URL: Article

DOI: 10.1644/14-MAMM-A-115

DOI: 10.1644/14-MAMM-A-115.S1

RVK:

WA 15000

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2014

detail.hit.zdb_id: 2066602-0

SSG: 12

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Radio, Francesca Clementina ; Pang, Kaifang ; Ciolfi, Andrea ; [et al.]

Elsevier BV ; 2021

In: The American Journal of Human Genetics Vol. 108, No. 3 ( 2021-03), p. 502-516

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 108, No. 3 ( 2021-03), p. 502-516

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2021.01.015

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 1473813-2

SSG: 12

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