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Article ; Online: An atypical course of coxsackievirus A6 associated hand, foot and mouth disease in extremely low birth weight preterm twins.

Bruning, Andrea H L / van der Sanden, Sabine M G / ten Hoedt, Amber E / Wolthers, Katja C / van Kaam, Anton H / Pajkrt, Dasja

Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology

2015 Volume 65, Page(s) 20–22

Abstract: The incidence of coxsackievirus A6 (CV-A6) associated hand, foot and mouth disease (HFMD) has reportedly increased since 2008 with sometimes severe complications. We here describe an atypical course of CV-A6-associated HFMD in extremely low birth weight ... ...

Abstract	The incidence of coxsackievirus A6 (CV-A6) associated hand, foot and mouth disease (HFMD) has reportedly increased since 2008 with sometimes severe complications. We here describe an atypical course of CV-A6-associated HFMD in extremely low birth weight twins. The CV-A6-strains are genetically closely related to international strains isolated from HFMD outbreaks.
MeSH term(s)	Diseases in Twins/diagnosis ; Diseases in Twins/virology ; Enterovirus/classification ; Enterovirus/isolation & purification ; Female ; Hand, Foot and Mouth Disease/diagnosis ; Hand, Foot and Mouth Disease/virology ; Humans ; Infant, Extremely Low Birth Weight ; Infant, Low Birth Weight ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases/diagnosis ; Infant, Premature, Diseases/virology ; Male ; Phylogeny ; Risk Factors ; Twins
Language	English
Publishing date	2015-04
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	1446080-4
ISSN	1873-5967 ; 1386-6532
ISSN (online)	1873-5967
ISSN	1386-6532
DOI	10.1016/j.jcv.2015.01.020
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Article: Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.

Coene, Karlien L M / Timmer, Corrie / Goorden, Susan M I / Ten Hoedt, Amber E / Kluijtmans, Leo A J / Janssen, Mirian C H / Rennings, Alexander J M / Prinsen, Hubertus C M T / Wamelink, Mirjam M C / Ruijter, George J G / Körver-Keularts, Irene M L W / Heiner-Fokkema, M Rebecca / van Spronsen, Francjan J / Hollak, Carla E / Vaz, Frédéric M / Bosch, Annet M / Huigen, Marleen C D G

JIMD reports

2020 Volume 58, Issue 1, Page(s) 70–79

Abstract: Background: Reliable measurement of phenylalanine (Phe) is a prerequisite for adequate follow-up of phenylketonuria (PKU) patients. However, previous studies have raised concerns on the intercomparability of plasma and dried blood spot (DBS) Phe results. ...

Abstract	Background: Reliable measurement of phenylalanine (Phe) is a prerequisite for adequate follow-up of phenylketonuria (PKU) patients. However, previous studies have raised concerns on the intercomparability of plasma and dried blood spot (DBS) Phe results. In this study, we made an inventory of differences in (pre-)analytical methodology used for Phe determination across Dutch laboratories, and compared DBS and plasma results. Methods: Through an online questionnaire, we assessed (pre-)analytical Phe measurement procedures of seven Dutch metabolic laboratories. To investigate the difference between plasma and DBS Phe, participating laboratories received simultaneously collected plasma-DBS sets from 23 PKU patients. In parallel, 40 sample sets of DBS spotted from either venous blood or capillary fingerprick were analyzed. Results: Our data show that there is no consistency on standard operating procedures for Phe measurement. The association of DBS to plasma Phe concentration exhibits substantial inter-laboratory variation, ranging from a mean difference of -15.5% to +30.6% between plasma and DBS Phe concentrations. In addition, we found a mean difference of +5.8% in Phe concentration between capillary DBS and DBS prepared from venous blood. Conclusions: The results of our study point to substantial (pre-)analytical variation in Phe measurements, implicating that bloodspot Phe results should be interpreted with caution, especially when no correction factor is applied. To minimize variation, we advocate pre-analytical standardization and analytical harmonization of Phe measurements, including consensus on application of a correction factor to adjust DBS Phe to plasma concentrations.
Language	English
Publishing date	2020-11-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	2672872-2
ISSN	2192-8312 ; 2192-8304
ISSN (online)	2192-8312
ISSN	2192-8304
DOI	10.1002/jmd2.12186
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Article ; Online: Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life.

ten Hoedt, Amber E / Maurice-Stam, Heleen / Boelen, Carolien C A / Rubio-Gozalbo, M Estela / van Spronsen, Francjan J / Wijburg, Frits A / Bosch, Annet M / Grootenhuis, Martha A

Journal of inherited metabolic disease

2011 Volume 34, Issue 2, Page(s) 391–398

Abstract: Parents of children with chronic disorders have an impaired health-related quality of life (HRQoL) compared to parents of healthy children. Remarkably, parents of children with a metabolic disorder reported an even lower HRQoL than parents of children ... ...

Abstract	Parents of children with chronic disorders have an impaired health-related quality of life (HRQoL) compared to parents of healthy children. Remarkably, parents of children with a metabolic disorder reported an even lower HRQoL than parents of children with other chronic disorders. Possibly, the uncertainty about the course of the disease and the limited life expectancy in many metabolic disorders are important factors in the low parental HRQoL. Therefore, we performed a cross-sectional study in parents of children with phenylketonuria (PKU, OMIM #261600) and galactosemia (OMIM #230400), metabolic disorders not affecting life expectancy, in order to investigate their HRQoL compared to parents of healthy children and to parents of children with other metabolic disorders. A total of 185 parents of children with PKU and galactosemia aged 1-19 years completed two questionnaires. Parents of children with PKU or galactosemia reported a HRQoL comparable to parents of healthy children and a significantly better HRQoL than parents of children with other metabolic disorders. Important predictors for parental mental HRQoL were the psychosocial factors emotional support and loss of friendship. As parental mental functioning influences the health, development and adjustment of their children, it is important that treating physicians also pay attention to the wellbeing of the parents. The insight that emotional support and loss of friendship influence the HRQoL of the parents enables treating physicians to provide better support for these parents.
MeSH term(s)	Adaptation, Psychological ; Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Galactosemias/psychology ; Galactosemias/therapy ; Humans ; Infant ; Male ; Parents ; Phenylketonurias/psychology ; Phenylketonurias/therapy ; Quality of Life ; Social Class ; Surveys and Questionnaires
Language	English
Publishing date	2011-02-03
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1007/s10545-010-9267-3
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Article ; Online: "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial.

Ten Hoedt, Amber E / Hollak, Carla Em / Boelen, Carolien Ca / van der Herberg-van de Wetering, N Ada P / Ter Horst, Nienke M / Jonkers, Cora F / Wijburg, Frits A / Bosch, Annet M

Orphanet journal of rare diseases

2011 Volume 6, Page(s) 48

Abstract: ... or e-mail by a dietician in case of a deviant Phe value. Group 1 was given a personal "My PKU" web ...

Abstract	Background: Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism. The inability to convert phenylalanine (Phe) into tyrosine causes Phe to accumulate in the body. Adherence to a protein restricted diet, resulting in reduced Phe levels, is essential to prevent cognitive decline. Frequent evaluation of plasma Phe levels and, if necessary, adjustment of the diet are the mainstay of treatment. We aimed to assess whether increased self-management of PKU patients and/or their parents is feasible and safe, by providing direct online access to blood Phe values without immediate professional guidance. Methods: Thirty-eight patients aged ≥ 1 year participated in a 10 month randomized controlled trial. Patients were randomized into a study group (1) or a control group (2). Group 2 continued the usual procedure: a phone call or e-mail by a dietician in case of a deviant Phe value. Group 1 was given a personal "My PKU" web page with a graph of their recent and previous Phe values, online general information about the dietary treatment and the Dutch PKU follow-up guidelines, and a message-box to contact their dietician if necessary. Phe values were provided on "My PKU" without advice. Outcome measures were: differences in mean Phe value, percentage of values above the recommended range and Phe sample frequency, between a 10-month pre-study period and the study period in each group, and between the groups in both periods. Furthermore we assessed satisfaction of patients and/or parents with the 'My PKU' procedure of online availability. Results: There were no significant differences in mean Phe value, percentage of values above recommended range or in frequency of blood spot sampling for Phe determination between the pre-study period and the study period in each group, nor between the 2 groups during the periods. All patients and/or parents expressed a high level of satisfaction with the new way of disease management. Conclusions: Increased self-management in PKU by providing patients and/or parents their Phe values without advice is feasible and safe and is highly appreciated. Trial registration: The trial was registered with The Netherlands National Trial Register (NTR #1171) before recruitment of patients.
MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; Diet ; Female ; Humans ; Infant ; Male ; Patient Satisfaction ; Phenylalanine/blood ; Phenylketonurias/diet therapy ; Self Care ; Young Adult
Chemical Substances	Phenylalanine (47E5O17Y3R)
Language	English
Publishing date	2011-06-27
Publishing country	England
Document type	Journal Article ; Randomized Controlled Trial ; Research Support, Non-U.S. Gov't
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/1750-1172-6-48
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Article: High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial

ten Hoedt, Amber E / de Sonneville, Leo M. J / Francois, Baudouin / ter Horst, Nienke M / Janssen, Mirian C. H / Rubio-Gozalbo, M. Estela / Wijburg, Frits A / Hollak, Carla E. M / Bosch, Annet M

Journal of inherited metabolic disease. 2011 Feb., v. 34, no. 1

2011

Abstract: The main debate in the treatment of Phenylketonuria (PKU) is whether adult patients need the strict phenylalanine (Phe)-restricted diet. Physicians and patients lack evidence-based guidelines to help them make well-informed choices. We have carried out ... ...

Abstract	The main debate in the treatment of Phenylketonuria (PKU) is whether adult patients need the strict phenylalanine (Phe)-restricted diet. Physicians and patients lack evidence-based guidelines to help them make well-informed choices. We have carried out the first randomised double-blind placebo-controlled trial into the effects of short-term elevation of Phe levels on neuropsychological functions and mood of adults with PKU. Nine continuously treated adults with PKU underwent two 4-week supplementation periods: one with Phe, mimicking normal dietary intake, and one with placebo in randomly allocated order via a randomisation coding list in a double-blind cross-over design. A set of neuropsychological tests (Amsterdam Neuropsychological Tasks) was administered at the end of each study period. In addition, patients and for each patient a friend or relative, completed weekly Profile of Mood States (POMS) questionnaires, evaluating the patients' mood. Phe levels were measured twice weekly. Mean plasma Phe levels were significantly higher during Phe supplementation compared with placebo (p = 0.008). Neuropsychological tests demonstrated an impairment in sustained attention during Phe supplementation (p = 0.029). Both patients and their friend or relative reported lower scores on the POMS questionnaires during Phe supplementation (p = 0.017 and p = 0.040, respectively). High plasma Phe levels have a direct negative effect on both sustained attention and on mood in adult patients with PKU. A Phe-restricted “diet for life” might be an advisable option for many.
Language	English
Dates of publication	2011-02
Size	p. 165-171.
Publisher	Springer Netherlands
Publishing place	Dordrecht
Document type	Article
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1007/s10545-010-9253-9
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial.

ten Hoedt, Amber E / de Sonneville, Leo M J / Francois, Baudouin / ter Horst, Nienke M / Janssen, Mirian C H / Rubio-Gozalbo, M Estela / Wijburg, Frits A / Hollak, Carla E M / Bosch, Annet M

Journal of inherited metabolic disease

2010 Volume 34, Issue 1, Page(s) 165–171

Abstract	The main debate in the treatment of Phenylketonuria (PKU) is whether adult patients need the strict phenylalanine (Phe)-restricted diet. Physicians and patients lack evidence-based guidelines to help them make well-informed choices. We have carried out the first randomised double-blind placebo-controlled trial into the effects of short-term elevation of Phe levels on neuropsychological functions and mood of adults with PKU. Nine continuously treated adults with PKU underwent two 4-week supplementation periods: one with Phe, mimicking normal dietary intake, and one with placebo in randomly allocated order via a randomisation coding list in a double-blind cross-over design. A set of neuropsychological tests (Amsterdam Neuropsychological Tasks) was administered at the end of each study period. In addition, patients and for each patient a friend or relative, completed weekly Profile of Mood States (POMS) questionnaires, evaluating the patients' mood. Phe levels were measured twice weekly. Mean plasma Phe levels were significantly higher during Phe supplementation compared with placebo (p = 0.008). Neuropsychological tests demonstrated an impairment in sustained attention during Phe supplementation (p = 0.029). Both patients and their friend or relative reported lower scores on the POMS questionnaires during Phe supplementation (p = 0.017 and p = 0.040, respectively). High plasma Phe levels have a direct negative effect on both sustained attention and on mood in adult patients with PKU. A Phe-restricted "diet for life" might be an advisable option for many.
MeSH term(s)	Adult ; Affect/drug effects ; Attention/drug effects ; Cross-Over Studies ; Dietary Supplements ; Double-Blind Method ; Female ; Humans ; Male ; Neuropsychological Tests ; Phenylalanine/blood ; Phenylalanine/pharmacology ; Phenylalanine/therapeutic use ; Phenylketonurias/blood ; Phenylketonurias/drug therapy ; Phenylketonurias/psychology ; Placebos ; Young Adult
Chemical Substances	Placebos ; Phenylalanine (47E5O17Y3R)
Language	English
Publishing date	2010-12-10
Publishing country	United States
Document type	Journal Article ; Randomized Controlled Trial
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1007/s10545-010-9253-9
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: "MY PKU"

Jonkers Cora F / ter Horst Nienke M / van der Herberg-van de Wetering N Ada P / Boelen Carolien CA / Hollak Carla EM / ten Hoedt Amber E / Wijburg Frits A / Bosch Annet M

Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p

increasing self-management in patients with phenylketonuria. A randomized controlled trial

2011 Volume 48

Abstract: ... the usual procedure: a phone call or e-mail by a dietician in case of a deviant Phe value. Group 1 was ...

Abstract	Abstract Background Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism. The inability to convert phenylalanine (Phe) into tyrosine causes Phe to accumulate in the body. Adherence to a protein restricted diet, resulting in reduced Phe levels, is essential to prevent cognitive decline. Frequent evaluation of plasma Phe levels and, if necessary, adjustment of the diet are the mainstay of treatment. We aimed to assess whether increased self-management of PKU patients and/or their parents is feasible and safe, by providing direct online access to blood Phe values without immediate professional guidance. Methods Thirty-eight patients aged ≥ 1 year participated in a 10 month randomized controlled trial. Patients were randomized into a study group (1) or a control group (2). Group 2 continued the usual procedure: a phone call or e-mail by a dietician in case of a deviant Phe value. Group 1 was given a personal "My PKU" web page with a graph of their recent and previous Phe values, online general information about the dietary treatment and the Dutch PKU follow-up guidelines, and a message-box to contact their dietician if necessary. Phe values were provided on "My PKU" without advice. Outcome measures were: differences in mean Phe value, percentage of values above the recommended range and Phe sample frequency, between a 10-month pre-study period and the study period in each group, and between the groups in both periods. Furthermore we assessed satisfaction of patients and/or parents with the 'My PKU' procedure of online availability. Results There were no significant differences in mean Phe value, percentage of values above recommended range or in frequency of blood spot sampling for Phe determination between the pre-study period and the study period in each group, nor between the 2 groups during the periods. All patients and/or parents expressed a high level of satisfaction with the new way of disease management. Conclusions Increased self-management in PKU by providing patients and/or ...
Keywords	Medicine ; R
Subject code	610
Language	English
Publishing date	2011-06-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Cullup, Thomas / Kho, Ay Lin / Dionisi-Vici, Carlo / Brandmeier, Birgit / Smith, Frances / Urry, Zoe / Simpson, Michael A / Yau, Shu / Bertini, Enrico / McClelland, Verity / Al-Owain, Mohammed / Koelker, Stefan / Koerner, Christian / Hoffmann, Georg F / Wijburg, Frits A / ten Hoedt, Amber E / Rogers, R Curtis / Manchester, David / Miyata, Rie /

Hayashi, Masaharu / Said, Elizabeth / Soler, Doriette / Kroisel, Peter M / Windpassinger, Christian / Filloux, Francis M / Al-Kaabi, Salwa / Hertecant, Jozef / Del Campo, Miguel / Buk, Stefan / Bodi, Istvan / Goebel, Hans-Hilmar / Sewry, Caroline A / Abbs, Stephen / Mohammed, Shehla / Josifova, Dragana / Gautel, Mathias / Jungbluth, Heinz

Nature genetics

2012 Volume 45, Issue 1, Page(s) 83–87

Abstract: Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and ... ...

Abstract	Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 18 affected individuals. We identified recessive mutations in EPG5 (previously KIAA1632), indicating a causative role in Vici syndrome. EPG5 is the human homolog of the metazoan-specific autophagy gene epg-5, encoding a key autophagy regulator (ectopic P-granules autophagy protein 5) implicated in the formation of autolysosomes. Further studies showed a severe block in autophagosomal clearance in muscle and fibroblasts from individuals with mutant EPG5, resulting in the accumulation of autophagic cargo in autophagosomes. These findings position Vici syndrome as a paradigm of human multisystem disorders associated with defective autophagy and suggest a fundamental role of the autophagy pathway in the immune system and the anatomical and functional formation of organs such as the brain and heart.
MeSH term(s)	Agenesis of Corpus Callosum/genetics ; Antigens, Neoplasm/genetics ; Autophagy/genetics ; Autophagy-Related Proteins ; Biopsy ; Cataract/genetics ; Consanguinity ; Exome ; Family ; Genes, Recessive ; Humans ; Intracellular Signaling Peptides and Proteins ; Lysosomal Membrane Proteins ; Lysosomes/metabolism ; Muscle, Skeletal/pathology ; Muscle, Skeletal/ultrastructure ; Mutation ; Proteins/metabolism ; Vesicular Transport Proteins
Chemical Substances	Antigens, Neoplasm ; Autophagy-Related Proteins ; EPG5 protein, human ; Intracellular Signaling Peptides and Proteins ; Lysosomal Membrane Proteins ; NBR1 protein, human ; Proteins ; Vesicular Transport Proteins
Language	English
Publishing date	2012-12-09
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng.2497
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